SELECT VARIANTS FROM EXCLUDE VARIANTS FROM
INDIVIDUALS:

SNP LIST:
GROUPS:

SAVED GENE LIST:

GENE LIST:
INDIVIDUALS:

EXCLUDE SNP LIST:
EXCLUDE GROUPS:

EXCLUDE SAVED GENE LIST:

EXCLUDE GENE LIST:
SELECT YOUR DISEASES:
OMIM:
CLINICAL GENOMICS DATABASE:
HGMD:
MUTATION TYPE:
CHR:

POS:
VARIANT EFFECT FUNCTIONAL CLASS IMPACT
DBSNP BUILD:


EXCLUDE VARIANTS AT VARISNP
READ DEPTH:

QUAL:
VARIANTS PER GENE:
SHOW ONLY VARIANTS PRESENT IN COMMON GENES BETWEEN ALL THE INDIVIDUALS SELECTED
SHOW ONLY VARIANTS AT EXACTLY SAME POSITION BETWEEN ALL THE INDIVIDUALS SELECTED
EXCLUDE ALL VARIANTS PRESENT IN LATEST DBSNP BUILD
SHOW ONLY VARIANTS PRESENT AT HGMD

FREQUENCIES

1000 GENOMES FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN 1000GENOMES
DBSNP FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN DBSNP
ESP6500 FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN EXOME SEQUENCING PROJECT

SCORES

SIFT SCORE

EXCLUDE VARIANTS WITHOUT SIFT SCORE
POLYPHEN2 SCORE

EXCLUDE VARIANTS WITHOUT POLYPHEN SCORE
CADD

EXCLUDE VARIANTS WITHOUT CADD SCORE
MCAP

EXCLUDE VARIANTS WITHOUT M-CAP SCORE
OPEN RESULT IN A NEW WINDOW
RESET FILTER | Save Config | Save Analysis

Genes:
A3GALT2, A4GALT, AATK, ABCA7, ABCB8, ABCC3, ABCC5, ABCG4, ABHD17A, AC026703.1, AC079612.1, AC105020.1, AC126614.1, AC135178.1, ACADS, ACAP1, ACO1, ACOT4, ACSBG2, ACSM2A, ACSM2B, ACSM5, ACTR5, ACVRL1, ADAM33, ADAMTS12, ADAMTS16, ADAMTS3, ADAMTS6, ADAMTSL1, ADAMTSL5, ADCY2, ADCYAP1, ADIPOR1, ADTRP, AEBP1, AFF1, AGRN, AGXT2, AHNAK, AHRR, AKAP5, AKAP8, AKR1A1, ALDH16A1, ALDH1A3, ALDH1B1, ALKBH2, ALOX15, ALPL, AMACR, AMER3, AMH, AMPD3, ANAPC1, ANGPTL4, ANK1, ANKIB1, ANKRD16, ANKRD18A, ANKRD18B, ANKRD24, ANKRD30B, ANKRD33B, ANKRD55, ANKRD62, ANKRD65, ANKRD9, AP001631.10, AP1G2, AP2A1, AP2A2, AP4E1, AP5B1, APEH, APIP, APOA1BP, APOBEC3B, AQP3, ARC, ARFGAP1, ARFIP2, ARHGAP1, ARHGEF39, ARID1A, ARID3A, ARID5A, ARL4D, ARMC5, ARRDC5, ARVCF, ASB14, ASGR2, ASIC3, ASPDH, ASPM, ATF6B, ATHL1, ATP13A1, ATP2B4, ATP2C2, ATP8B3, ATP8B4, ATXN1, AXIN2, AZU1, B4GALNT4, BAG1, BAI1, BAIAP3, BCAM, BCL10, BCL7A, BECN1, BIRC8, BMP6, BOD1L1, BRD9, BRPF1, BSN, BTBD2, BTD, BTN1A1, BTN3A1, BTN3A3, C11orf16, C11orf24, C11orf35, C12orf4, C12orf49, C16orf3, C19orf59, C20orf96, C2CD4C, C2CD5, C2orf71, C3, C4A, C5orf22, C5orf34, C6orf25, C7, C9orf38, C9orf72, CA5B, CACNA1H, CACTIN, CADPS2, CAMSAP3, CAP2, CAPN11, CAPN13, CASC5, CCBL1, CCDC107, CCDC135, CCDC136, CCDC152, CCDC154, CCDC171, CCDC182, CCDC33, CCDC38, CCDC78, CCDC94, CCIN, CCNL2, CCS, CCT5, CD151, CD2BP2, CD81, CDC42EP2, CDCP2, CDH10, CDH18, CDH6, CDH7, CDH9, CDHR5, CDK11A, CDK12, CDK2, CDYL, CECR5, CELSR3, CEP192, CEP350, CEP72, CER1, CES1, CFHR5, CHAD, CHD8, CHRD, CHRNB2, CHST3, CHSY1, CHTOP, CIT, CKAP5, CKM, CLC, CLCN7, CLDN6, CLK4, CLMN, CMYA5, CNGB1, CNOT4, CNTD1, CNTD2, CNTLN, CNTNAP3, COL11A2, COL5A3, COL6A3, COL6A5, COLEC12, COLGALT1, COPS7A, COPS7B, CPNE5, CRABP2, CRIM1, CRLF3, CROCC, CRYBG3, CSMD1, CSNK1D, CTD-2368P22.1, CTD-3193O13.9, CTNNBIP1, CUBN, CXCL16, CYBA, CYFIP1, CYP21A2, CYP2W1, CYP4F12, CYTH4, DAGLA, DAP, DAXX, DBH, DBP, DCHS1, DDA1, DDX25, DDX39B, DENND1C, DESI1, DGKA, DHRS4, DHTKD1, DKFZP434E1119, DLG1, DLX2, DMRTC2, DNA2, DNAH1, DNAH12, DNAH14, DNAH2, DNAH3, DNAH5, DNAH7, DNAI1, DNAJC1, DOCK3, DOCK8, DPCR1, DROSHA, DSN1, DSP, DTNBP1, DUSP22, DUSP28, DUSP3, DUSP8, EBI3, EEF2, EEFSEC, EHBP1L1, EIF2AK3, EIF4G1, ELANE, ELOVL5, EMC10, EMR1, ENTHD1, ENTPD3, ENTPD4, EP300, EPB41L3, EPHA2, EPPK1, EPS8L1, EPS8L2, ERMAP, ERMP1, ERN2, ESCO2, ESYT3, EXOSC3, F2RL3, F5, FAM151A, FAM160B1, FAM166B, FAM194B, FAM200B, FAM205A, FAM210A, FAM214B, FAM230A, FAM53A, FAM89B, FAM8A1, FAN1, FANCE, FASN, FASTKD3, FBN1, FBXL18, FBXO10, FBXO36, FBXO42, FBXO45, FBXW10, FBXW12, FCGR3A, FCGR3B, FCHSD2, FERMT1, FGD2, FGFR3, FGR, FIBP, FICD, FLII, FN1, FNBP1, FNDC5, FNDC7, FOLR1, FOXA3, FOXD4, FOXN3, FREM1, FRMPD1, FSD1, FSIP1, FSIP2, FSTL3, FUT5, FYCO1, GABARAPL1, GADD45B, GAGE10, GAGE12H, GALR3, GARNL3, GAS8, GATM, GBA2, GBF1, GCM2, GFI1B, GGN, GHR, GHRL, GLDC, GNAL, GOLGA2, GOLGA4, GPR108, GPR113, GPR56, GPR78, GPRC5A, GPSM2, GPX8, GRAMD1A, GRHPR, GRIK4, GRM5, GSE1, GUF1, GUK1, HAGHL, HAPLN2, HAUS7, HCG27, HCN2, HDGFRP2, HDLBP, HEATR1, HEATR4, HECTD2, HEG1, HENMT1, HEYL, HIST1H1C, HIST1H2AA, HIST1H2BA, HIST1H3C, HIST1H4C, HIST1H4E, HIST1H4H, HIVEP1, HMCN1, HMHA1, HNF1B, HOOK2, HOXA13, HPR, HRAS, HS3ST6, HSD17B6, HSD17B8, HSP90AB1, HSPA1A, HTR5A, IDE, IDH3B, IER3, IFFO2, IFNA1, IFNA4, IFNAR1, IFNK, IGFBPL1, IGSF10, IGSF22, IKZF4, IL17C, IL33, IL7R, INF2, INSC, INSL4, INSRR, IQGAP1, IQGAP3, IRAK2, IRF2BP1, IRF7, IRX1, IRX2, ITFG2, ITGAD, ITGAE, ITIH1, ITIH3, ITPR3, JAK2, JAK3, JARID2, JSRP1, JUND, KANK1, KAT8, KCNH3, KCNK6, KDM1A, KDM4B, KDM4C, KIAA0020, KIAA0319, KIAA0430, KIAA0947, KIAA1161, KIAA1279, KIAA1324, KIAA1432, KIAA2026, KIF13A, KIF18A, KIF18B, KIF22, KIF24, KIFC3, KIR2DS4, KIT, KLF11, KLF16, KLHDC2, KLK11, KLK2, KLK7, KMT2A, KRT15, KRT35, KRT82, KRT84, KRTAP3-1, LAG3, LAMA1, LAMA2, LAMA3, LAMB2, LAP3, LARS2, LATS1, LDHD, LGI4, LILRA2, LILRB2, LILRB5, LLGL1, LMBRD2, LPPR3, LRIF1, LRP1, LRPAP1, LRRC14B, LRRC56, LRRC71, LTBR, LURAP1L, MAD1L1, MADCAM1, MAFA, MAK, MALRD1, MAP3K5, MAST3, MAZ, MBD3L2, MBD3L3, MCAM, MED16, MED26, MEGF6, MEGF9, MEI1, MELK, METRN, METTL12, METTL4, MFSD10, MFSD12, MGAT2, MICALL2, MINK1, MISP, MKNK2, MMP3, MOCOS, MOXD1, MPND, MPP1, MPPE1, MRFAP1, MROH2B, MRPL55, MS4A4A, MSH5, MST1, MTRR, MUC13, MUC17, MUC2, MUC21, MUC5AC, MUC5B, MUC6, MUM1, MVD, MYBBP1A, MYBPC3, MYO10, MYO9B, MYOM1, MYPN, NADK2, NAGPA, NBAS, NCAN, NCLN, NCOR1, NCR3, NDRG4, NDUFA10, NDUFA11, NDUFA13, NDUFA4L2, NDUFA9, NDUFB10, NDUFS6, NDUFS7, NEDD9, NELFCD, NELL2, NEU1, NF1, NFASC, NFE2L2, NFKBIE, NHLRC1, NINL, NISCH, NKD2, NLGN2, NLRC5, NLRP13, NLRP2, NLRP5, NLRP6, NME8, NOL6, NOMO3, NOP56, NOTCH4, NPIPB15, NR1I3, NR4A1, NRBP1, NRP2, NRXN3, NSUN2, NTHL1, NUP133, NUP153, NXPH4, NYNRIN, OCEL1, ODF3L2, OR10J3, OR1C1, OR1F1, OR2S2, OR2T8, OR4F17, OR4N2, OR52I2, OR6K2, OR8B8, OR8H3, ORMDL2, OSBP2, OTOF, OTOG, OTOL1, OXCT1, PACS1, PAIP1, PAK1, PAK6, PALM, PALMD, PAN2, PAX5, PCDH12, PCDHB8, PCDHGA10, PCDHGA11, PCDHGC3, PCDHGC5, PCID2, PCNXL2, PCSK4, PCYT1A, PDCD11, PDDC1, PDE6A, PDE6C, PDE8A, PDGFRA, PDZD2, PDZD8, PEG3, PEX1, PEX11G, PGA5, PHLDB3, PHLPP2, PI4KB, PIAS4, PIDD, PIEZO2, PIK3R4, PIRT, PIWIL2, PKD1, PKD1L2, PKD2L1, PKMYT1, PKN2, PKP3, PLB1, PLCD4, PLCXD3, PLD2, PLEC, PLEKHA7, PLEKHG4B, PLEKHH3, PLEKHM2, PLIN3, PLIN4, PLK5, PLXNA3, PMS2, PNPLA2, PNPLA6, POLE, POLR1E, POLR2A, POLR2E, POLR2L, POLRMT, POTEC, POU5F1, PPP1R10, PPP1R12C, PPP1R18, PPP1R1A, PPP1R3G, PPP2R5C, PPP2R5D, PPRC1, PRCC, PRDM1, PRDM9, PREX1, PROM2, PRPF31, PRPF4B, PRPF6, PRPF8, PRPSAP2, PRR14L, PRR25, PRSS3, PRSS57, PSG8, PSMD13, PSMD8, PSME4, PTBP1, PTGR1, PTK6, PTPRD, PTPRM, PTPRS, PTPRT, PVRL2, PYGB, PZP, RAB11FIP2, RABL5, RAD54L2, RANBP1, RAPGEF3, RASGRP4, RASSF7, RBM22, RDH5, RECK, RELN, RET, REXO1, RGPD1, RHOF, RHOT2, RIMBP3, RIN1, RNASE9, RNF10, RNF126, RNF168, RNF212, RNF26, RNH1, ROBO1, ROPN1L, RP11-1396O13.13, RP11-145E5.5, RP11-302B13.5, RP11-683L23.1, RP11-998D10.1, RPL3L, RPP40, RREB1, RSPH6A, RTEL1-TNFRSF6B, RUNDC1, RYR2, SBF2, SBNO2, SBP1, SCGB1C1, SCN1B, SCYL3, SDHA, SDIM1, SEC22A, SEH1L, SEMA5A, SEMA6B, SERPINB9, SET, SETD5, SFSWAP, SGOL2, SH2D6, SH3GL1, SH3TC1, SHB, SHC2, SHMT2, SHPK, SIGIRR, SIGLEC1, SIGLEC11, SIRT5, SLC10A4, SLC12A3, SLC12A7, SLC16A14, SLC16A3, SLC17A3, SLC1A1, SLC22A13, SLC22A18AS, SLC25A2, SLC25A42, SLC25A44, SLC2A5, SLC34A2, SLC39A14, SLC39A7, SLC41A1, SLC45A2, SLC51A, SLC5A10, SLC6A18, SLC6A19, SLC6A6, SLC9A3, SLC9A5, SLIT2, SMARCA4, SMCHD1, SMCO2, SMIM22, SMO, SMTNL1, SMTNL2, SMUG1, SNRNP48, SNUPN, SNX33, SOGA2, SORD, SOWAHB, SPATA31A1, SPDYE2, SPEF2, SPHK2, SPTBN4, SPTBN5, SRCAP, SRRM2, STAB1, STAP2, STK36, SULT1A2, SUN1, SUV420H2, SVEP1, SYNE2, SYNGAP1, SYVN1, SZT2, TACC3, TADA3, TAF10, TAF3, TAF5, TAF7, TAOK2, TAPBP, TAS1R2, TAS2R13, TBC1D31, TBCCD1, TBXA2R, TCEB2, TCF12, TCTE1, TECPR1, TEK, TEKT1, TELO2, TENC1, TEX28P1, TF, TFR2, TFRC, TG, TGM5, THEM6, THOC1, TICAM1, TIMM10B, TJP3, TLE2, TLR10, TLR6, TM4SF18, TMEM129, TMEM214, TMEM220, TMEM261, TMEM63C, TMEM80, TMEM95, TMIGD2, TMOD3, TMPPE, TNF, TNFAIP8L2, TNFRSF6B, TNFRSF8, TNFSF14, TNK1, TNPO2, TNR, TNRC18, TNXB, TOMM5, TPPP2, TPSG1, TRAV8-1, TRBV20OR9-2, TRERF1, TRIM29, TRIM38, TRIM49B, TRIM6, TRIM67, TRIO, TRIP13, TRMT6, TRPM3, TRPM7, TSC1, TSGA13, TSPAN11, TSPAN4, TSR3, TTC23L, TTC38, TTC39B, TTC6, TTLL7, TTN, TUBB, TUSC1, TXNDC2, TXNRD2, TYRP1, U2AF2, UBA7, UBAP2, UBE2O, UBE2S, UBN1, UBR5, UBTD1, UBXN6, UHRF2, UQCC2, USP29, USP37, USP6, UTP20, UTS2R, VN1R2, VPS13C, VPS18, VPS39, VWA1, VWA3A, VWA5A, WARS2, WDR18, WDR24, WDR60, WDR66, WDR81, WDR90, WFS1, WHSC1L1, WIZ, WNT3A, WRNIP1, WSCD2, YES1, ZBED4, ZBTB14, ZBTB46, ZBTB5, ZCCHC3, ZCCHC7, ZDHHC11B, ZFHX2, ZFR, ZFR2, ZFYVE1, ZFYVE28, ZIC2, ZMAT4, ZMYND11, ZNF106, ZNF131, ZNF160, ZNF283, ZNF286A, ZNF304, ZNF318, ZNF416, ZNF44, ZNF473, ZNF518B, ZNF519, ZNF530, ZNF541, ZNF550, ZNF554, ZNF558, ZNF563, ZNF578, ZNF587B, ZNF589, ZNF626, ZNF644, ZNF691, ZNF777, ZNF786, ZNF804A, ZNF823, ZNF880, ZNRF4,

Genes at Omim

A4GALT, ABCA7, ACADS, ACVRL1, AGRN, ALDH1A3, ALPL, AMACR, AMH, AMPD3, ANGPTL4, ANK1, AP4E1, AQP3, ARID1A, ARMC5, ASPM, ATXN1, AXIN2, BCL10, BCL7A, BTD, C2orf71, C3, C4A, C7, C9orf72, CACNA1H, CASC5, CCDC78, CCT5, CD151, CD81, CES1, CFHR5, CHD8, CHRNB2, CHST3, CHSY1, CIT, CLCN7, CNGB1, COL11A2, COL6A3, CSNK1D, CUBN, CYBA, CYP21A2, DBH, DCHS1, DHTKD1, DNA2, DNAH5, DNAI1, DOCK8, DSP, DTNBP1, EEF2, EIF2AK3, EIF4G1, ELANE, ELOVL5, EP300, EPHA2, ERMAP, ESCO2, EXOSC3, F5, FAN1, FANCE, FBN1, FCGR3A, FCGR3B, FGFR3, FIBP, FN1, FOLR1, FREM1, FYCO1, GAS8, GATM, GBA2, GCM2, GFI1B, GHR, GHRL, GLDC, GNAL, GPSM2, GRHPR, GUF1, HMCN1, HNF1B, HOXA13, HRAS, IDH3B, IFNA1, IL7R, INF2, IRF7, ITPR3, JAK2, JAK3, KANK1, KDM1A, KIAA0319, KIAA1279, KIF22, KIT, KLF11, KMT2A, LAMA1, LAMA2, LAMA3, LAMB2, LARS2, LRPAP1, MAD1L1, MAK, MGAT2, MMP3, MOCOS, MTRR, MUC5B, MVD, MYBPC3, MYO9B, MYPN, NADK2, NBAS, NCR3, NDUFA10, NDUFA11, NDUFA13, NDUFA9, NDUFS6, NDUFS7, NEU1, NF1, NHLRC1, NME8, NOP56, NSUN2, NTHL1, OTOF, OTOG, OXCT1, PACS1, PAX5, PCYT1A, PDE6A, PDE6C, PDGFRA, PEX1, PIEZO2, PKD1, PMS2, PNPLA2, PNPLA6, PPP2R5D, PRCC, PRPF31, PRPF6, PRPF8, RDH5, RELN, RET, RNF168, RNF212, RYR2, SBF2, SCN1B, SDHA, SETD5, SH3GL1, SLC12A3, SLC17A3, SLC1A1, SLC34A2, SLC39A14, SLC45A2, SLC6A19, SLC9A3, SMARCA4, SMCHD1, SORD, SRCAP, SYNE2, SYNGAP1, SZT2, TAPBP, TBXA2R, TCF12, TEK, TELO2, TF, TFR2, TFRC, TG, TGM5, TICAM1, TNF, TNXB, TRIO, TRPM7, TSC1, TTN, TUBB, TYRP1, UQCC2, VPS13C, WDR60, WDR81, WFS1, WHSC1L1, ZIC2, ZMYND11, ZNF644,
A4GALT NOR polyagglutination syndrome, 111400 (3)
[Blood group, P1Pk system, P(2) phenotype], 111400 (3)
[Blood group, P1Pk system, p phenotype], 111400 (3)
ABCA7 {Alzheimer disease 9, susceptibility to}, 608907 (3)
ACADS Acyl-CoA dehydrogenase, short-chain, deficiency of, 201470 (3)
ACVRL1 Telangiectasia, hereditary hemorrhagic, type 2, 600376 (3)
AGRN Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, 615120 (3)
ALDH1A3 Microphthalmia, isolated 8, 615113 (3)
ALPL Hypophosphatasia, adult, 146300 (3)
Hypophosphatasia, childhood, 241510 (3)
Hypophosphatasia, infantile, 241500 (3)
Odontohypophosphatasia, 146300 (3)
AMACR Alpha-methylacyl-CoA racemase deficiency, 614307 (3)
Bile acid synthesis defect, congenital, 4, 214950 (3)
AMH Persistent Mullerian duct syndrome, type I, 261550 (3)
AMPD3 [AMP deaminase deficiency, erythrocytic], 612874 (3)
ANGPTL4 Plasma triglyceride level QTL, low, 615881 (3)
ANK1 Spherocytosis, type 1, 182900 (3)
AP4E1 Spastic paraplegia 51, autosomal recessive, 613744 (3)
Stuttering, familial persistent, 1, 184450 (3)
AQP3 [Blood group GIL], 607457 (3)
ARID1A Coffin-Siris syndrome 2, 614607 (3)
ARMC5 ACTH-independent macronodular adrenal hyperplasia 2, 615954 (3)
ASPM Microcephaly 5, primary, autosomal recessive, 608716 (3)
ATXN1 Spinocerebellar ataxia 1, 164400 (3)
AXIN2 Colorectal cancer, somatic, 114500 (3)
Oligodontia-colorectal cancer syndrome, 608615 (3)
BCL10 ?Immunodeficiency 37, 616098 (3)
Lymphoma, MALT, somatic, 137245 (3)
{Lymphoma, follicular, somatic}, 605027 (3)
{Male germ cell tumor, somatic}, 273300, (3)
{Mesothelioma, somatic}, 156240 (3)
{Sezary syndrome, somatic}, (3)
BCL7A B-cell non-Hodgkin lymphoma, high-grade (3)
BTD Biotinidase deficiency, 253260 (3)
C2orf71 Retinitis pigmentosa 54, 613428 (3)
C3 C3 deficiency, 613779 (3)
{Hemolytic uremic syndrome, atypical, susceptibility to, 5}, 612925 (3)
{Macular degeneration, age-related, 9}, 611378 (3)
C4A C4a deficiency, 614380 (3)
[Blood group, Rodgers], 614374 (3)
C7 C7 deficiency, 610102 (3)
C9orf72 Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, 105550 (3)
CACNA1H Hyperaldosteronism, familial, type IV, 617027 (3)
{Epilepsy, childhood absence, susceptibility to, 6}, 611942 (3)
{Epilepsy, idiopathic generalized, susceptibility to, 6}, 611942 (3)
CASC5 Microcephaly 4, primary, autosomal recessive, 604321 (3)
CCDC78 Myopathy, centronuclear, 4, 614807 (3)
CCT5 Neuropathy, hereditary sensory, with spastic paraplegia, 256840 (3)
CD151 Nephropathy with pretibial epidermolysis bullosa and deafness, 609057 (3)
[Blood group, Raph], 179620 (3)
CD81 Immunodeficiency, common variable, 6, 613496 (3)
CES1 Carboxylesterase 1 deficiency (3)
CFHR5 Nephropathy due to CFHR5 deficiency, 614809 (3)
CHD8 {Autism, susceptibility to, 18}, 615032 (3)
CHRNB2 Epilepsy, nocturnal frontal lobe, 3, 605375 (3)
CHST3 Spondyloepiphyseal dysplasia with congenital joint dislocations, 143095 (3)
CHSY1 Temtamy preaxial brachydactyly syndrome, 605282 (3)
CIT Microcephaly 17, primary, autosomal recessive, 617090 (3)
CLCN7 Osteopetrosis, autosomal dominant 2, 166600 (3)
Osteopetrosis, autosomal recessive 4, 611490 (3)
CNGB1 Retinitis pigmentosa 45, 613767 (3)
COL11A2 Deafness, autosomal dominant 13, 601868 (3)
Deafness, autosomal recessive 53, 609706 (3)
Fibrochondrogenesis 2, 614524 (3)
Otospondylomegaepiphyseal dysplasia, 215150 (3)
Stickler syndrome, type III, 184840 (3)
Weissenbacher-Zweymuller syndrome, 277610 (3)
COL6A3 Bethlem myopathy 1, 158810 (3)
Dystonia 27, 616411 (3)
Ullrich congenital muscular dystrophy 1, 254090 (3)
CSNK1D Advanced sleep-phase syndrome, familial, 2, 615224 (3)
CUBN Megaloblastic anemia-1, Finnish type, 261100 (3)
CYBA Chronic granulomatous disease, autosomal, due to deficiency of CYBA, 233690 (3)
CYP21A2 Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, 201910 (3)
Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency, 201910 (3)
DBH Dopamine beta-hydroxylase deficiency, 223360 (3)
[Dopamine-beta-hydroxylase activity levels, plasma] (3)
DCHS1 Mitral valve prolapse 2, 607829 (3)
Van Maldergem syndrome 1, 601390 (3)
DHTKD1 2-aminoadipic 2-oxoadipic aciduria, 204750 (3)
?Charcot-Marie-Tooth disease, axonal, type 2Q, 615025 (3)
DNA2 ?Seckel syndrome 8, 615807 (3)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6, 615156 (3)
DNAH5 Ciliary dyskinesia, primary, 3, with or without situs inversus, 608644 (3)
DNAI1 Ciliary dyskinesia, primary, 1, with or without situs inversus, 244400 (3)
DOCK8 Hyper-IgE recurrent infection syndrome, autosomal recessive, 243700 (3)
DSP Arrhythmogenic right ventricular dysplasia 8, 607450 (3)
Cardiomyopathy, dilated, with woolly hair and keratoderma, 605676 (3)
Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, 615821 (3)
Epidermolysis bullosa, lethal acantholytic, 609638 (3)
Keratosis palmoplantaris striata II, 612908 (3)
Skin fragility-woolly hair syndrome, 607655 (3)
DTNBP1 Hermansky-Pudlak syndrome 7, 614076 (3)
EEF2 ?Spinocerebellar ataxia 26, 609306 (3)
EIF2AK3 Wolcott-Rallison syndrome, 226980 (3)
EIF4G1 {Parkinson disease 18}, 614251 (3)
ELANE Neutropenia, cyclic, 162800 (3)
Neutropenia, severe congenital 1, autosomal dominant, 202700 (3)
ELOVL5 Spinocerebellar ataxia 38, 615957 (3)
EP300 Colorectal cancer, somatic, 114500 (3)
Rubinstein-Taybi syndrome 2, 613684 (3)
EPHA2 Cataract 6, multiple types, 116600 (3)
ERMAP [Blood group, Radin], 111620 (3)
[Blood group, Scianna system], 111750 (3)
ESCO2 Roberts syndrome, 268300 (3)
SC phocomelia syndrome, 269000 (3)
EXOSC3 Pontocerebellar hypoplasia, type 1B, 614678 (3)
F5 Factor V deficiency, 227400 (3)
Thrombophilia due to activated protein C resistance, 188055 (3)
{Budd-Chiari syndrome}, 600880 (3)
{Pregnancy loss, recurrent, susceptibility to, 1}, 614389 (3)
{Stroke, ischemic, susceptibility to}, 601367 (3)
{Thrombophilia, susceptibility to, due to factor V Leiden}, 188055 (3)
FAN1 Interstitial nephritis, karyomegalic, 614817 (3)
FANCE Fanconi anemia, complementation group E, 600901 (3)
FBN1 Acromicric dysplasia, 102370 (3)
Aortic aneurysm, ascending, and dissection (3)
Ectopia lentis, familial, 129600 (3)
Geleophysic dysplasia 2, 614185 (3)
MASS syndrome, 604308 (3)
Marfan lipodystrophy syndrome, 616914 (3)
Marfan syndrome, 154700 (3)
Stiff skin syndrome, 184900 (3)
Weill-Marchesani syndrome 2, dominant, 608328 (3)
FCGR3A Immunodeficiency 20, 615707 (3)
FCGR3B Neutropenia, alloimmune neonatal (3)
FGFR3 Achondroplasia, 100800 (3)
Bladder cancer, somatic, 109800 (3)
CATSHL syndrome, 610474 (3)
Cervical cancer, somatic, 603956 (3)
Colorectal cancer, somatic, 114500 (3)
Crouzon syndrome with acanthosis nigricans, 612247 (3)
Hypochondroplasia, 146000 (3)
LADD syndrome, 149730 (3)
Muenke syndrome, 602849 (3)
Nevus, epidermal, somatic, 162900 (3)
SADDAN, 616482 (3)
Spermatocytic seminoma, somatic, 273300 (3)
Thanatophoric dysplasia, type I, 187600 (3)
Thanatophoric dysplasia, type II, 187601 (3)
FIBP Thauvin-Robinet-Faivre syndrome, 617107 (3)
FN1 Glomerulopathy with fibronectin deposits 2, 601894 (3)
Plasma fibronectin deficiency, 614101 (1)
FOLR1 Neurodegeneration due to cerebral folate transport deficiency, 613068 (3)
FREM1 Bifid nose with or without anorectal and renal anomalies, 608980 (3)
Manitoba oculotrichoanal syndrome, 248450 (3)
Trigonocephaly 2, 614485 (3)
FYCO1 Cataract 18, autosomal recessive, 610019 (3)
GAS8 Ciliary dyskinesia, primary, 33, 616726 (3)
GATM Cerebral creatine deficiency syndrome 3, 612718 (3)
GBA2 Spastic paraplegia 46, autosomal recessive, 614409 (3)
GCM2 Hypoparathyroidism, familial isolated, 146200 (3)
GFI1B Bleeding disorder, platelet-type, 17, 187900 (3)
GHR Growth hormone insensitivity, partial, 604271 (3)
Increased responsiveness to growth hormone (3)
Laron dwarfism, 262500 (3)
{Hypercholesterolemia, familial, modifier of}, 143890 (3)
GHRL {Obesity, susceptibility to}, 601665 (3)
GLDC Glycine encephalopathy, 605899 (3)
GNAL Dystonia 25, 615073 (3)
GPSM2 Chudley-McCullough syndrome, 604213 (3)
GRHPR Hyperoxaluria, primary, type II, 260000 (3)
GUF1 ?Epileptic encephalopathy, early infantile, 40, 617065 (3)
HMCN1 {Macular degeneration, age-related, 1}, 603075 (3)
HNF1B Diabetes mellitus, noninsulin-dependent, 125853 (3)
Renal cysts and diabetes syndrome, 137920 (3)
{Renal cell carcinoma}, 144700 (3)
HOXA13 Guttmacher syndrome, 176305 (3)
Hand-foot-uterus syndrome, 140000 (3)
HRAS Congenital myopathy with excess of muscle spindles, 218040 (3)
Costello syndrome, 218040 (3)
Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic, 163200 (3)
{Bladder cancer, somatic}, 109800 (3)
{Nevus sebaceous or woolly hair nevus, somatic}, 162900 (3)
{Spitz nevus or nevus spilus, somatic}, 137550 (3)
{Thyroid carcinoma, follicular, somatic}, 188470 (3)
IDH3B Retinitis pigmentosa 46, 612572 (3)
IFNA1 Interferon, alpha, deficiency (1)
IL7R Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type, 608971 (3)
INF2 Charcot-Marie-Tooth disease, dominant intermediate E, 614455 (3)
Glomerulosclerosis, focal segmental, 5, 613237 (3)
IRF7 ?Immunodeficiency 39, 616345 (3)
ITPR3 {Diabetes, type 1, susceptibility to}, 222100 (2)
JAK2 Erythrocytosis, somatic, 133100 (3)
Leukemia, acute myeloid, somatic, 601626 (3)
Myelofibrosis, somatic, 254450 (3)
Polycythemia vera, somatic, 263300 (3)
Thrombocythemia 3, 614521 (3)
{Budd-Chiari syndrome, somatic}, 600800 (3)
JAK3 SCID, autosomal recessive, T-negative/B-positive type, 600802 (3)
KANK1 Cerebral palsy, spastic quadriplegic, 2, 612900 (3)
KDM1A Cleft palate, psychomotor retardation, and distinctive facial features, 616728 (3)
KIAA0319 {Dyslexia, susceptibility to, 2}, 600202 (3)
KIAA1279 Goldberg-Shprintzen megacolon syndrome, 609460 (3)
KIF22 Spondyloepimetaphyseal dysplasia with joint laxity, type 2, 603546 (3)
KIT Gastrointestinal stromal tumor, familial, 606764 (3)
Germ cell tumors, 273300 (3)
Leukemia, acute myeloid, 601626 (3)
Mast cell disease, 154800 (3)
Piebaldism, 172800 (3)
KLF11 Maturity-onset diabetes of the young, type VII, 610508 (3)
KMT2A Leukemia, myeloid/lymphoid or mixed-lineage (2)
Wiedemann-Steiner syndrome, 605130 (3)
LAMA1 Poretti-Boltshauser syndrome, 615960 (3)
LAMA2 Muscular dystrophy, congenital merosin-deficient, 607855 (3)
Muscular dystrophy, congenital, due to partial LAMA2 deficiency, 607855 (3)
LAMA3 Epidermolysis bullosa, generalized atrophic benign, 226650 (3)
Epidermolysis bullosa, junctional, Herlitz type, 226700 (3)
Laryngoonychocutaneous syndrome, 245660 (3)
LAMB2 Nephrotic syndrome, type 5, with or without ocular abnormalities, 614199 (3)
Pierson syndrome, 609049 (3)
LARS2 ?Hydrops, lactic acidosis, and sideroblastic anemia, 617021 (3)
Perrault syndrome 4, 615300 (3)
LRPAP1 Myopia 23, autosomal recessive, 615431 (3)
MAD1L1 Lymphoma, somatic (3)
Prostate cancer, somatic, 176807 (3)
MAK Retinitis pigmentosa 62, 614181 (3)
MGAT2 Congenital disorder of glycosylation, type IIa, 212066 (3)
MMP3 {Coronary heart disease, susceptibility to, 6}, 614466 (3)
MOCOS Xanthinuria, type II, 603592 (3)
MTRR Homocystinuria-megaloblastic anemia, cbl E type, 236270 (3)
{Neural tube defects, folate-sensitive, susceptibility to}, 601634 (3)
MUC5B {Pulmonary fibrosis, idiopathic, susceptibility to}, 178500 (3)
MVD Porokeratosis 7, multiple types, 614714 (3)
MYBPC3 Cardiomyopathy, dilated, 1MM, 615396 (3)
Cardiomyopathy, hypertrophic, 4, 115197 (3)
Left ventricular noncompaction 10, 615396 (3)
MYO9B {Celiac disease, susceptibility to, 4}, 609753 (3)
MYPN Cardiomyopathy, dilated, 1KK, 615248 (3)
Cardiomyopathy, familial restrictive, 4, 615248 (3)
Cardiomyopathy, hypertrophic, 22, 615248 (3)
NADK2 ?2,4-dienoyl-CoA reductase deficiency, 616034 (3)
NBAS Infantile liver failure syndrome 2, 616483 (3)
Short stature, optic nerve atrophy, and Pelger-Huet anomaly, 614800 (3)
NCR3 {Malaria, mild, susceptibility to}, 609148 (3)
NDUFA10 ?Leigh syndrome, 256000 (3)
NDUFA11 Mitochondrial complex I deficiency, 252010 (3)
NDUFA13 {Thyroid carcinoma, Hurthle cell}, 607464 (3)
NDUFA9 Leigh syndrome due to mitochondrial complex I deficiency, 256000 (3)
NDUFS6 Mitochondrial complex I deficiency, 252010 (3)
NDUFS7 Leigh syndrome, 256000 (3)
NEU1 Sialidosis, type I, 256550 (3)
Sialidosis, type II, 256550 (3)
NF1 Leukemia, juvenile myelomonocytic, 607785 (3)
Neurofibromatosis, familial spinal, 162210 (3)
Neurofibromatosis, type 1, 162200 (3)
Neurofibromatosis-Noonan syndrome, 601321 (3)
Watson syndrome, 193520 (3)
NHLRC1 Epilepsy, progressive myoclonic 2B (Lafora), 254780 (3)
NME8 Ciliary dyskinesia, primary, 6, 610852 (3)
NOP56 Spinocerebellar ataxia 36, 614153 (3)
NSUN2 Mental retardation, autosomal recessive 5, 611091 (3)
NTHL1 Familial adenomatous polyposis 3, 616415 (3)
OTOF Auditory neuropathy, autosomal recessive, 1, 601071 (3)
Deafness, autosomal recessive 9, 601071 (3)
OTOG Deafness, autosomal recessive 18B, 614945 (3)
OXCT1 Succinyl CoA:3-oxoacid CoA transferase deficiency, 245050 (3)
PACS1 Schuss-Hoeijmakers sydnrome, 615009 (3)
PAX5 {Leukemia, acute lymphoblastic, susceptibility to, 3}, 615545 (3)
PCYT1A Spondylometaphyseal dysplasia with cone-rod dystrophy, 608940 (3)
PDE6A Retinitis pigmentosa 43, 613810 (3)
PDE6C Cone dystrophy 4, 613093 (3)
PDGFRA Gastrointestinal stromal tumor, somatic, 606764 (3)
Hypereosinophilic syndrome, idiopathic, resistant to imatinib, 607685 (3)
PEX1 Heimler syndrome 1, 234580 (3)
Peroxisome biogenesis disorder 1A (Zellweger), 214100 (3)
Peroxisome biogenesis disorder 1B (NALD/IRD), 601539 (3)
PIEZO2 ?Marden-Walker syndrome, 248700 (3)
Arthrogryposis, distal, type 3, 114300 (3)
Arthrogryposis, distal, type 5, 108145 (3)
PKD1 Polycystic kidney disease, adult type I, 173900 (3)
PMS2 Colorectal cancer, hereditary nonpolyposis, type 4, 614337 (3)
Mismatch repair cancer syndrome, 276300 (3)
PNPLA2 Neutral lipid storage disease with myopathy, 610717 (3)
PNPLA6 ?Laurence-Moon syndrome, 245800 (3)
Boucher-Neuhauser syndrome, 215470 (3)
Oliver-McFarlane syndrome, 275400 (3)
Spastic paraplegia 39, autosomal recessive, 612020 (3)
PPP2R5D Mental retardation, autosomal dominant 35, 616355 (3)
PRCC Renal cell carcinoma, papillary, 605074 (3)
PRPF31 Retinitis pigmentosa 11, 600138 (3)
PRPF6 Retinitis pigmentosa 60, 613983 (3)
PRPF8 Retinitis pigmentosa 13, 600059 (3)
RDH5 Fundus albipunctatus, 136880 (3)
RELN Lissencephaly 2 (Norman-Roberts type), 257320 (3)
{Epilepsy, familial temporal lobe, 7}, 616436 (3)
RET Central hypoventilation syndrome, congenital, 209880 (3)
Medullary thyroid carcinoma, 155240 (3)
Multiple endocrine neoplasia IIA, 171400 (3)
Multiple endocrine neoplasia IIB, 162300 (3)
Pheochromocytoma, 171300 (3)
{Hirschsprung disease, susceptibility to, 1}, 142623 (3)
RNF168 RIDDLE syndrome, 611943 (3)
RNF212 Recombination rate QTL 1, 612042 (3)
RYR2 Arrhythmogenic right ventricular dysplasia 2, 600996 (3)
Ventricular tachycardia, catecholaminergic polymorphic, 1, 604772 (3)
SBF2 Charcot-Marie-Tooth disease, type 4B2, 604563 (3)
SCN1B Atrial fibrillation, familial, 13, 615377 (3)
Brugada syndrome 5, 612838 (3)
Cardiac conduction defect, nonspecific, 612838 (3)
Epilepsy, generalized, with febrile seizures plus, type 1, 604233 (3)
SDHA Cardiomyopathy, dilated, 1GG, 613642 (3)
Leigh syndrome, 256000 (3)
Mitochondrial respiratory chain complex II deficiency, 252011 (3)
Paragangliomas 5, 614165 (3)
SETD5 Mental retardation, autosomal dominant 23, 615761 (3)
SH3GL1 Leukemia, acute myeloid, 601626 (1)
SLC12A3 Gitelman syndrome, 263800 (3)
SLC17A3 [Uric acid concentration, serum, QTL4], 612671 (3)
{Gout susceptibility 4}, 612671 (3)
SLC1A1 Dicarboxylic aminoaciduria, 222730 (3)
{?Schizophrenia susceptibility 18}, 615232 (3)
SLC34A2 Pulmonary alveolar microlithiasis, 265100 (3)
SLC39A14 Hypermanganesemia with dystonia 2, 617013 (3)
SLC45A2 Albinism, oculocutaneous, type IV, 606574 (3)
[Skin/hair/eye pigmentation 5, black/nonblack hair], 227240 (3)
[Skin/hair/eye pigmentation 5, dark/fair skin], 227240 (3)
[Skin/hair/eye pigmentation 5, dark/light eyes], 227240 (3)
SLC6A19 Hartnup disorder, 234500 (3)
Hyperglycinuria, 138500 (3)
Iminoglycinuria, digenic, 242600 (3)
SLC9A3 Diarrhea 8, secretory sodium, congenital, 616868 (3)
SMARCA4 Coffin-Siris syndrome 4, 614609 (3)
{Rhabdoid tumor predisposition syndrome 2}, 613325 (3)
SMCHD1 Fascioscapulohumeral muscular dystrophy 2, digenic, 158901 (3)
SORD ?Cataract, congenital (2)
SRCAP Floating-Harbor syndrome, 136140 (3)
SYNE2 Emery-Dreifuss muscular dystrophy 5, autosomal dominant, 612999 (3)
SYNGAP1 Mental retardation, autosomal dominant 5, 612621 (3)
SZT2 Epileptic encephalopathy, early infantile, 18, 615476 (3)
TAPBP Bare lymphocyte syndrome, type I, 604571 (3)
TBXA2R {Bleeding disorder, platelet-type, 13, susceptibility to}, 614009 (3)
TCF12 Craniosynostosis 3, 615314 (3)
TEK Venous malformations, multiple cutaneous and mucosal, 600195 (3)
TELO2 You-Hoover-Fong syndrome, 616954 (3)
TF Atransferrinemia, 209300 (3)
TFR2 Hemochromatosis, type 3, 604250 (3)
TFRC Immunodeficiency 46, 616740 (3)
TG Thyroid dyshormonogenesis 3, 274700 (3)
{Autoimmune thyroid disease, susceptibility to, 3}, 608175 (3)
TGM5 Peeling skin syndrome 2, 609796 (3)
TICAM1 {Herpes simplex encephalitic, susceptibility to, 6}, 614850 (3)
TNF {Asthma, susceptibility to}, 600807 (3)
{Dementia, vascular, susceptibility to} (3)
{Malaria, cerebral, susceptibility to}, 611162 (3)
{Migraine without aura, susceptibility to}, 157300 (3)
{Septic shock, susceptibility to} (3)
TNXB Ehlers-Danlos syndrome due to tenascin X deficiency, 606408 (3)
Vesicoureteral reflux 8, 615963 (3)
TRIO Mental retardation, autosomal dominant 44, 617061 (3)
TRPM7 {Amyotrophic lateral sclerosis-parkinsonism/dementia complex, susceptibility to}, 105500 (3)
TSC1 Lymphangioleiomyomatosis, 606690 (3)
Tuberous sclerosis-1, 191100 (3)
TTN Cardiomyopathy, dilated, 1G, 604145 (3)
Cardiomyopathy, familial hypertrophic, 9, 613765 (3)
Muscular dystrophy, limb-girdle, type 2J, 608807 (3)
Myopathy, early-onset, with fatal cardiomyopathy, 611705 (3)
Myopathy, proximal, with early respiratory muscle involvement, 603689 (3)
Tibial muscular dystrophy, tardive, 600334 (3)
TUBB Cortical dysplasia, complex, with other brain malformations 6, 615771 (3)
Symmetric circumferential skin creases, congenital, 1, 156610 (3)
TYRP1 Albinism, oculocutaneous, type III, 203290 (3)
[Skin/hair/eye pigmentation, variation in, 11 (Melanesian blond hair)], 612271 (3)
UQCC2 ?Mitochondrial complex III deficiency, nuclear type 7, 615824 (3)
VPS13C Parkinson disease 23, autosomal recessive, early onset, 616840 (3)
WDR60 Short-rib thoracic dysplasia 8 with or without polydactyly, 615503 (3)
WDR81 Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, 610185 (3)
WFS1 ?Cataract 41, 116400 (3)
Deafness, autosomal dominant 6/14/38, 600965 (3)
Wolfram syndrome, 222300 (3)
Wolfram-like syndrome, autosomal dominant, 614296 (3)
{Diabetes mellitus, noninsulin-dependent, association with}, 125853 (3)
WHSC1L1 Leukemia, acute myeloid, 601626 (3)
ZIC2 Holoprosencephaly 5, 609637 (3)
ZMYND11 Mental retardation, autosomal dominant 30, 616083 (3)
ZNF644 Myopia 21, autosomal dominant, 614167 (3)

Genes at Clinical Genomics Database

A4GALT, ACADS, ACVRL1, AGRN, ALDH1A3, ALPL, AMACR, AMH, AMPD3, ANK1, AP4E1, AQP3, ARID1A, ARMC5, ASPM, ATXN1, AXIN2, BCAM, BCL10, BTD, C3, C4A, C7, CCT5, CD151, CD81, CES1, CHD8, CHRNB2, CHST3, CHSY1, CLCN7, CNGB1, COL11A2, COL6A3, CSNK1D, CUBN, CYBA, CYP21A2, DBH, DCHS1, DHTKD1, DNA2, DNAH1, DNAH5, DNAI1, DOCK8, DSP, DTNBP1, EIF2AK3, EIF4G1, ELANE, ELOVL5, EP300, EPHA2, ERMAP, ESCO2, EXOSC3, F5, FAN1, FANCE, FBN1, FCGR3A, FERMT1, FGFR3, FN1, FOLR1, FREM1, FYCO1, GAS8, GATM, GBA2, GCM2, GFI1B, GHR, GLDC, GNAL, GPSM2, GRHPR, GRIK4, HMCN1, HNF1B, HOXA13, HRAS, IDH3B, IL7R, INF2, IRF7, JAK2, JAK3, KANK1, KDM1A, KIF22, KIT, KLF11, KMT2A, LAMA1, LAMA2, LAMA3, LAMB2, LARS2, LRP1, LRPAP1, MAK, MGAT2, MTRR, MVD, MYBPC3, MYPN, NADK2, NBAS, NDUFA10, NDUFA11, NDUFA13, NDUFA9, NDUFS6, NDUFS7, NEU1, NF1, NHLRC1, NME8, NOP56, NTHL1, OTOF, OTOG, OXCT1, PACS1, PAX5, PCYT1A, PDE6A, PDE6C, PDGFRA, PEX1, PIEZO2, PKD1, PLEC, PMS2, PNPLA2, PNPLA6, POLE, PPP2R5D, PRPF31, PRPF6, PRPF8, RDH5, RELN, RET, RNF168, RYR2, SBF2, SCN1B, SDHA, SETD5, SLC12A3, SLC1A1, SLC34A2, SLC41A1, SLC45A2, SLC6A19, SMARCA4, SMCHD1, SRCAP, SYNE2, SYNGAP1, SZT2, TAPBP, TBXA2R, TCF12, TEK, TF, TFR2, TFRC, TG, TGM5, TICAM1, TNXB, TSC1, TTN, TUBB, TYRP1, UQCC2, VPS13C, VPS39, WDR60, WDR81, WFS1, ZIC2, ZMYND11, ZNF644,
A4GALT Blood group, P system
ACADS Acyl-CoA dehydrogenase, short-chain, deficiency of
ACVRL1 Hereditary hemorrhagic telangiectasia, type 2
AGRN Myasthenic syndrome, congenital 8
ALDH1A3 Microphthalmia, isolated 8
ALPL Odontohypophosphatasia
Hypophosphatasia, infantile
AMACR Alpha-methylacyl-CoA racemase deficiency
Bile acid synthesis defect, congenital, 4
AMH Persistent Mullerian duct syndrome, type I
AMPD3 Erythrocytic AMP deaminase deficiency
ANK1 Spherocytosis, hereditary 1
AP4E1 Spastic paraplegia 51, autosomal recessive
Stuttering, familial persistent, 1
AQP3 Blood group, GIL
ARID1A Coffin-Siris syndrome 2
Mental retardation, autosomal dominant 14
ARMC5 ACTH-independent macronodular adrenal hyperplasia 2
ASPM Microcephaly, primary autosomal recessive, 5
ATXN1 Spinocerebellar ataxia 1
AXIN2 Oligodontia-colorectal cancer syndrome
BCAM Lutheran, null
Blood group, Auberger system
Blood group, Lutheran system
BCL10 Immunodeficiency 37
BTD Biotinidase deficiency
C3 Hemolytic uremic syndrome, atypical, susceptibility to, 5
Complement component 3 deficiency, autosomal recessive
C4A Blood group, Chido/Rodgers system
C7 Complement component 7 deficiency
CCT5 Neuropathy, hereditary sensory, with spastic paraplegia
CD151 Raph blood group
CD81 Immunodeficiency, common variable, 6
CES1 Carboxylesterase 1 deficiency
CHD8 Autism, susceptibility to 18
CHRNB2 Epilepsy, nocturnal frontal lobe, type 3
CHST3 Spondyloepiphyseal dysplasia with congenital joint dislocations
CHSY1 Temtamy preaxial brachydactyly syndrome
CLCN7 Osteopetrosis, autosomal recessive 4
Osteopetrosis, autosomal dominant 2
CNGB1 Retinitis pigmentosa 45
COL11A2 Stickler syndrome, type III
Otospondylomegaepiphyseal dysplasia
Weissenbacher-Zweymuller syndrome
Fibrochondrogenesis 2
Deafness, autosomal recessive 53
Deafness, autosomal dominant 13
COL6A3 Dystonia 27
Bethlem myopathy 1
Ullrich congenital muscular dystrophy 1
CSNK1D Advanced sleep-phase syndrome, familial, 2
CUBN Megaloblastic anemia-1, Finnish type
CYBA Chronic granulomatous disease, autosomal, due to deficiency of CYBA
CYP21A2 Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency
Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency
DBH Dopamine beta-hydroxylase deficiency
DCHS1 Mitral valve prolapse 2
DHTKD1 2-aminoadipic and 2-oxoadipic aciduria
Charcot-Marie-Tooth disease, type 2Q
DNA2 Seckel syndrome 8
Progressive external ophthalmoplegia with mitochondrial deletions, autosomal dominant, 6
DNAH1 Spermatogenic failure
DNAH5 Ciliary dyskinesia, primary, 3, with or without situs inversus
DNAI1 Ciliary dyskinesia, primary, 1
DOCK8 Hyper-IgE recurrent infection syndrome, autosomal recessive
DSP Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis
Cardiomyopathy, dilated, with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia, familial 8
DTNBP1 Hermansky-Pudlak syndrome 7
EIF2AK3 Wolcott-Rallison syndrome
Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus
EIF4G1 Macular dystrophy with central cone involvement
Parkinson disease 18
ELANE Neutropenia, cyclic
Neutropenia, severe congenital 1, autosomal dominant
ELOVL5 Spinocerebellar ataxia 39
EP300 Rubinstein-Taybi syndrome 2
EPHA2 Cataract 6, multiple types
ERMAP Blood group, Radin
Blood group, Scianna system
ESCO2 Roberts syndrome
SC phocomelia syndrome
EXOSC3 Pontocerebellar hypoplasia type 1B
F5 Factor V deficiency
Thrombophilia due to activated protein C resistance
FAN1 Interstitial nephritis, karyomegalic
FANCE Fanconi anemia, complementation group E
FBN1 Marfan lipodystrophy syndrome
Shprintzen-Goldberg syndrome
MASS syndrome
Marfan syndrome
FCGR3A Immunodeficiency 20
FERMT1 Kindler syndrome
FGFR3 Muenke syndrome
Lacrimoauriculodentodigital syndrome (AD)
Crouzon syndrome with acanthosis nigricans
Camptodactyly, tall stature, and hearing loss (CATSHL) syndrome
FN1 Glomerulopathy with fibronectin deposits 2
FOLR1 Cerebral folate deficiency
FREM1 Congenital diaphragmatic hernia, autosomal recessive
Manitoba oculotrichoanal syndrome
Trigonocephaly 2
Bifid nose with or without anorectal and renal anomalies
FYCO1 Cataract, autosomal recessive congenital 2
GAS8 Ciliary dyskinesia, primary, 33
GATM Cerebral creatine deficiency syndrome 3
GBA2 Cerebellar ataxia with spasticity, autosomal recessive
GCM2 Hypoparathyroidism, familial isolated
GFI1B Bleeding disorder, platelet-type, 17
GHR Growth hormone insensitivity syndrome (Laron syndrome)
GLDC Glycine encephalopathy
GNAL Primary torsion dystonia
GPSM2 Deafness, autosomal recessive 82
Chudley-McCullough syndrome
GRHPR Hyperoxaluria, primary, type II
GRIK4 Response to antidepressant treatment with citalopram
HMCN1 Macular degeneration, age-related, 1
HNF1B Renal cell carcinoma, nonpapillary chromophobe
HOXA13 Hand-foot-uterus syndrome
Guttmacher syndrome
Hand-foot-genital syndrome
HRAS Congenital myopathy with excess of muscle spindles
Costello syndrome
IDH3B Retinitis pigmentosa, autosomal recessive, IDH3B-related
IL7R Severe combined immunodeficiency, autosomal recessive, T-cell negative, B-cell positive, NK cell positive
INF2 Charcot-Marie-Tooth disease, dominant intermediate E
Focal segmental glomerulosclerosis 5
IRF7 Immunodeficiency 39
JAK2 Thrombocythemia 3
JAK3 Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, natural killer cell-negative
KANK1 Cerebral palsy, spastic quadriplegic, 2
KDM1A Cleft palate, psychomotor retardation, and distinctive facial features
KIF22 Spondyloepimetaphyseal dysplasia with joint laxity, type 2
KIT Gastrointestinal stromal tumor
KLF11 Maturity-onset diabetes of the young, type VII
KMT2A Wiedemann-Steiner syndrome
LAMA1 Poretti-Boltshauser syndrome
LAMA2 Schizophrenia
Muscular dystrophy, congenital merosin-deficient, 1A
LAMA3 Epidermolysis bullosa, generalized atrophic benign
Epidermolysis bullosa, junctional, Herlitz type
Laryngoonychocutaneous syndrome
LAMB2 Nephrotic syndrome, type 5, with or without ocular abnormalities
Pierson syndrome
LARS2 Perrault syndrome 4
LRP1 Schizophrenia
LRPAP1 Myopia 23, autosomal recessive
MAK Retinitis pigmentosa 62
MGAT2 Congenital disorder of glycosylation, type IIa
MTRR Homocystinuria-megaloblastic anemia, cobalamin E type
MVD Porokeratosis 7
MYBPC3 Left ventricular noncompaction 10
Cardiomyopathy, dilated, 1MM
Cardiomyopathy, familial hypertrophic, 4
MYPN Cardiomyopathy, familial restrictive, 4
Cardiomyopathy, familial hypertrophic, 22
Cardiomyopathy, dilated, 1KK
NADK2 2,4-dienoyl-CoA reductase deficiency
NBAS Short stature, optic nerve atrophy, and Pelger-Huet anomaly (SOPH syndrome)
Infantile liver failure syndrome 2
NDUFA10 Leigh syndrome
Mitochondrial complex I deficiency
NDUFA11 Mitochondrial complex I deficiency
NDUFA13 Thyroid carcinoma, Hurthle cell
NDUFA9 Leigh syndrome
Mitochondrial complex I deficiency
NDUFS6 Mitochondrial complex I deficiency
NDUFS7 Leigh syndrome
Mitochondrial complex I deficiency
NEU1 Sialidosis, type II
Sialidosis, type I
NF1 Watson syndrome
Neurofibromatosis type 1, Neurofibromatosis-Noonan syndrome
NHLRC1 Epilepsy, progressive myoclonic 2B (Lafora)
NME8 Ciliary dyskinesia, primary, 6
NOP56 Spinocerebellar ataxia 36
NTHL1 Familial adenomatous polyposis 3
OTOF Neuropathy, autosomal recessive, 1
Deafness, autosomal recessive 9
OTOG Deafness, autosomal recessive 18B
OXCT1 Succinyl CoA:3-oxoacid CoA transferase deficiency
PACS1 Mental retardation, autosomal dominant 17
PAX5 Pre-B cell acute lymphoblastic leukemia
PCYT1A Spondylometaphyseal dysplasia with cone-rod dystrophy
PDE6A Retinitis pigmentosa 43
PDE6C Cone dystrophy 4
PDGFRA Gastrointestinal stromal tumor
PEX1 Heimler syndrome 1
PIEZO2 Marden-Walker syndrome
Distal arthrogryposis type 5
Distal arthrogryposis type 3
PKD1 Polycystic kidney disease, adult type I
PLEC Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with muscular dystrophy
Epidermolysis bullosa simplex with pyloric atresia
Muscular dystrophy, limb-girdle, type 2Q
PMS2 Mismatch repair cancer syndrome
Colorectal cancer, hereditary nonpolyposis type 4
PNPLA2 Neutral lipid storage disease with myopathy
PNPLA6 Oliver-McFarlane syndrome
Laurence-Moon syndrome
Boucher-Neuhauser syndrome
POLE Facial dysmorphism, immunodeficiency, livedo, and short stature syndrome (FILS syndrome)
Colorectal cancer, susceptibility to, 12
PPP2R5D Mental retardation, autosomal dominant 35
PRPF31 Retinitis pigmentosa 11
PRPF6 Retinitis pigmentosa 60
PRPF8 Retinitis pigmentosa 13
RDH5 Fundus albipunctatus
RELN Lissencephaly 2
Epilepsy, familial temporal lobe, 7
RET Hirschsprung disease, susceptibility to 1
Pheochromocytoma
Medullary thyroid carcinoma, familial
Multiple endocrine neoplasia IIB
Multiple endocrine neoplasia, type IIA
Central hypoventilation syndrome, congenital
RNF168 RIDDLE syndrome
RYR2 Arrhythmogenic right ventricular dysplasia 2
Ventricular tachycardia, catecholaminergic polymorphic, 1
SBF2 Charcot-Marie-Tooth disease, type 4B2 with early-onset glaucoma
SCN1B Brugada syndrome 5
Atrial fibrillation, familial 13
SDHA Leigh syndrome/Mitochondrial respiratory chain complex II deficiency
Cardiomyopathy, dilated, 1GG
Gastrointestinal stromal tumors
Paragangliomas 5
SETD5 Mental retardation, autosomal dominant 23
SLC12A3 Gitelman syndrome
SLC1A1 Dicarboxylic aminoaciduria
SLC34A2 Pulmonary alveolar microlithiasis
SLC41A1 Nephronophthisis-like ciliopathy
SLC45A2 Skin/hair/eye pigmentation 5
Oculocutaneous albinism, type IV
SLC6A19 Hartnup disease
SMARCA4 Rhabdoid tumor predisposition syndrome 2
SMCHD1 Facioscapulohumeral muscular dystrophy, type 2
SRCAP Floating-Harbor syndrome
SYNE2 Emery-Dreifuss muscular dystrophy 5, autosomal dominant
SYNGAP1 Mental retardation, autosomal dominant 5
SZT2 Epileptic encephalopathy, early infantile, 18
TAPBP Bare lymphocyte syndrome, type I
TBXA2R Bleeding disorder, platelet-type 13, susceptibility to
TCF12 Craniosynostosis 3
TEK Venous malformations, multiple cutaneous and mucosal
TF Atransferrinemia
TFR2 Hemochromatosis, type 3
TFRC Immunodeficiency 46
TG Thyroid dyshormonogenesis 3
TGM5 Peeling skin syndrome 2
TICAM1 Herpes simplex encephalitis, susceptibility to, 4
TNXB Ehlers-Danlos syndrome, autosomal recessive, due to tenascin X deficiency
Vesicoureteral reflux 8
TSC1 Lymphangioleiomyomatosis
Tuberous sclerosis
TTN Cardiomyopathy, dilated, 1G
Cardiomyopathy, familial hypertrophic 9
TUBB Cortical dysplasia, complex, with other brain malformations 6
Congenital symmetric circumferential skin creases 1
TYRP1 Albinism, oculocutaneous, type III
UQCC2 Mitochondrial complex III deficiency, nuclear type 7
VPS13C Parkinson disease 23, autosomal recessive, early onset
VPS39 Schizophrenia
WDR60 Short -rib thoracic dysplasia 8 with or without polydactyly
WDR81 Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2
WFS1 Wolfram syndrome
ZIC2 Holoprosencephaly 5
ZMYND11 Mental retardation, autosomal domianant, 30
ZNF644 Myopia 21, autosomal dominant

Genes at HGMD

Summary

Number of Variants: 1516
Number of Genes: 1047

Export to: CSV

TFRC

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 3 . 195789759 606426.43 G T PASS 0/1 77 SYNONYMOUS_CODING LOW None None None None None None None

RABL5

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 7 . 100959649 512947.83 G A PASS 0/1 267 SYNONYMOUS_CODING LOW 0.18 None None None None None None None

PCDH12

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 5 . 141331138 397334.4 G A PASS 1/1 38 SYNONYMOUS_CODING LOW SILENT 0.30 None None None None None None None

TMEM63C

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 14 . 77718223 393753.41 C A PASS 1/1 53 SYNONYMOUS_CODING LOW SILENT 1.39 None None None None None None None

MED26

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 19 . 16688116 393586.62 T C PASS 1/1 65 SYNONYMOUS_CODING LOW SILENT None None None None None None None

HAPLN2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 1 . 156593934 369046.41 A C PASS 1/1 46 SYNONYMOUS_CODING LOW -0.12 None None None None None None None

ZFR

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 5 . 32403241 367622.94 C T PASS 1/1 102 SYNONYMOUS_CODING LOW 1.45 None None None None None None None

TEK

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 9 . 27183465 364184.89 A C PASS 1/1 30 SYNONYMOUS_CODING LOW SILENT 1.66 None None None None None None None

KIF18B

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 17 . 43013476 356619.9 A G PASS 1/1 85 SYNONYMOUS_CODING LOW SILENT 0.93 None None None None None None None

PLIN4

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 19 . 4511513 333427.37 A G PASS 1/1 229 SYNONYMOUS_CODING LOW -3.96 None None None None None None None

IFNK

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 9 . 27524733 323593.29 A G PASS 1/1 50 SYNONYMOUS_CODING LOW -2.07 None None None None None None None

ZNF518B

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 4 . 10444761 314852.9 C T PASS 1/1 59 SYNONYMOUS_CODING LOW -0.89 None None None None None None None

APEH

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 3 . 49716355 289860.7 A G PASS 1/1 56 SYNONYMOUS_CODING LOW SILENT None None None None None None None

PALMD

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 1 . 100152331 286820.89 C T PASS 1/1 21 SYNONYMOUS_CODING LOW SILENT None None None None None None None

ACSBG2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 19 . 6156472 284867.99 T C PASS 1/1 58 SYNONYMOUS_CODING LOW -0.15 None None None None None None None

METTL4

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 18 . 2539017 280029.4 C G PASS 1/1 87 SYNONYMOUS_CODING LOW SILENT -0.58 None None None None None None None

SRCAP

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 16 . 30723642 274641.89 C A PASS 1/1 73 SYNONYMOUS_CODING LOW SILENT None None None None None None None

PLIN4

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 19 . 4511943 272550.42 T C PASS 1/1 199 SYNONYMOUS_CODING LOW -1.28 None None None None None None None

NUP153

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 6 . 17629385 270504.63 G A PASS 1/1 61 SYNONYMOUS_CODING LOW SILENT None None None None None None None

KIAA2026

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 9 rs3739649
dbSNP
5968416 265769.75 A G PASS 1/1 50 SYNONYMOUS_CODING LOW SILENT 0.82089 0.82090 0.08070 None None None None None None None

ALPL

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 1 . 21890615 263454.89 G A PASS 1/1 68 SYNONYMOUS_CODING LOW None None None None None None None

ZBTB5

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 9 . 37441811 262294.9 A G PASS 1/1 61 SYNONYMOUS_CODING LOW SILENT None None None None None None None

ATP2B4

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 1 . 203683316 256812.63 A G PASS 1/1 66 SYNONYMOUS_CODING LOW None None None None None None None

PRPF31

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 19 . 54631706 255571.74 A G PASS 0/1 225 SYNONYMOUS_CODING LOW None None None None None None None

CNTLN

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 9 . 17409368 245268.81 G A PASS 1/1 66 SYNONYMOUS_CODING LOW None None None None None None None

ZBTB14

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 18 . 5292031 245027.06 A G PASS 1/1 49 SYNONYMOUS_CODING LOW None None None None None None None

NLGN2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 17 . 7318066 243290.66 G A PASS 0/1 78 SYNONYMOUS_CODING LOW None None None None None None None

SLC5A10

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 17 . 18872707 242304.67 A T PASS 1/1 44 SYNONYMOUS_CODING LOW SILENT None None None None None None None

DAXX

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 6 . 33288319 239027.57 A T PASS 1/1 28 SYNONYMOUS_CODING LOW None None None None None None None

PLIN4

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 19 . 4511635 231056.64 C G PASS 1/1 91 SYNONYMOUS_CODING LOW SILENT -2.07 None None None None None None None

SULT1A2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 16 . 28606917 230470.89 A G PASS 1/1 187 SYNONYMOUS_CODING LOW None None None None None None None

RP11-1396O13.13

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 4 . 9388934 227768.41 A G PASS 1/1 114 SYNONYMOUS_CODING LOW None None None None None None None

IER3

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 6 . 30711851 227520.4 T A PASS 1/1 66 SYNONYMOUS_CODING LOW SILENT None None None None None None None

TNFSF14

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 19 . 6665009 224850.93 T C PASS 1/1 149 SYNONYMOUS_CODING LOW SILENT 0.19 None None None None None None None

ZNF519

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 18 . 14105924 221716.4 T C PASS 1/1 99 SYNONYMOUS_CODING LOW SILENT -2.06 None None None None None None None

AC126614.1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 12 . 57810500 220317.9 T C PASS 1/1 38 SYNONYMOUS_CODING LOW SILENT 1.29 None None None None None None None

NLRP6

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 11 rs7482279
dbSNP
280817 218655.7 T C PASS 1/1 162 SYNONYMOUS_CODING LOW SILENT 0.70088 0.70090 0.32485 None None None None None None None

DOCK8

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 9 rs1887957
dbSNP
441952 217590.06 G A PASS 1/1 63 SYNONYMOUS_CODING LOW SILENT 0.80391 0.80390 0.25711 None None None None None None None

PLIN4

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 19 . 4511917 216603.99 A G PASS 0/1 196 SYNONYMOUS_CODING LOW SILENT None None None None None None None

THOC1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 18 rs657138
dbSNP
252559 215100.2 G A PASS 1/1 75 SYNONYMOUS_CODING LOW SILENT 0.95467 0.95470 0.04825 None None None None None None None

CCDC107

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 9 . 35660993 214446.64 A G PASS 1/1 124 SYNONYMOUS_CODING LOW -1.31 None None None None None None None

MCAM

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 11 . 119182117 213153.14 C A PASS 1/1 94 SYNONYMOUS_CODING LOW SILENT 1.86 None None None None None None None

PLIN4

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 19 . 4511915 209308.12 G A PASS 0/1 198 SYNONYMOUS_CODING LOW -1.51 None None None None None None None

YES1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 18 rs537141
dbSNP
724612 207376.89 A G PASS 1/1 63 SYNONYMOUS_CODING LOW SILENT 0.98982 0.98980 0.00869 None None None None None None None

ALDH1B1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 9 . 38395943 200087.2 T C PASS 1/1 120 SYNONYMOUS_CODING LOW SILENT None None None None None None None

PLIN4

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 19 . 4511338 198762.09 T A PASS 0/1 222 SYNONYMOUS_CODING LOW SILENT -1.00 None None None None None None None

RP11-145E5.5

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 9 . 22029446 197074.55 G A PASS 1/1 141 SYNONYMOUS_CODING LOW None None None None None None None

PLIN4

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 19 rs542160942
dbSNP
4511818 197013.98 A G PASS 0/1 281 SYNONYMOUS_CODING LOW SILENT 0.00659 0.00659 None None None None None None None

ZNF823

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 19 . 11832882 193945.46 G A PASS 1/1 97 SYNONYMOUS_CODING LOW -1.17 None None None None None None None

UBE2S

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 19 . 55913077 191407.4 T C PASS 0/1 65 SYNONYMOUS_CODING LOW 0.24 None None None None None None None

ARFIP2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 11 . 6498412 185623.74 G A PASS 1/1 69 SYNONYMOUS_CODING LOW SILENT 0.74 None None None None None None None

POLR1E

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 9 . 37503127 184965.9 G A PASS 1/1 18 SYNONYMOUS_CODING LOW SILENT None None None None None None None

TBC1D31

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 8 . 124094966 184882.08 C T PASS 1/1 52 SYNONYMOUS_CODING LOW SILENT None None None None None None None

GABARAPL1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 12 . 10373141 183632.03 C T PASS 0/1 51 SYNONYMOUS_CODING LOW None None None None None None None

TBC1D31

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 8 . 124094960 183194.46 G A PASS 1/1 50 SYNONYMOUS_CODING LOW None None None None None None None

CNTNAP3

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 9 . 39118210 182825.13 A G PASS 0/1 31 SYNONYMOUS_CODING LOW None None None None None None None

HMCN1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 1 . 186057342 181228.52 T C PASS 1/1 90 SYNONYMOUS_CODING LOW SILENT 3.14 None None None None None None None

GPX8

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 5 . 54456158 181023.51 T C PASS 1/1 93 SYNONYMOUS_CODING LOW None None None None None None None

FASTKD3

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 5 . 7867917 178577.77 T C PASS 1/1 49 SYNONYMOUS_CODING LOW -2.08 None None None None None None None

NLRP13

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 19 . 56424158 173289.13 A G PASS 0/1 37 SYNONYMOUS_CODING LOW None None None None None None None

PLEKHH3

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 17 . 40822284 172702.9 A C PASS 1/1 14 SYNONYMOUS_CODING LOW SILENT 1.87 None None None None None None None

CEP192

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 18 . 13069783 172357.66 C T PASS 1/1 63 SYNONYMOUS_CODING LOW 1.12 None None None None None None None

SEH1L

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 18 . 12984145 169987.66 C A PASS 1/1 45 SYNONYMOUS_CODING LOW SILENT 1.34 None None None None None None None

SPATA31A1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 9 . 39358957 169460.22 C T PASS 1/1 48 SYNONYMOUS_CODING LOW 1.88 None None None None None None None

DGKA

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 12 . 56332734 168302.04 G A PASS 1/1 41 SYNONYMOUS_CODING LOW SILENT None None None None None None None

CNTLN

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 9 . 17394998 167009.81 T C PASS 1/1 54 SYNONYMOUS_CODING LOW None None None None None None None

CEP192

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 18 . 13068133 166366.04 T C PASS 1/1 69 SYNONYMOUS_CODING LOW 1.07 None None None None None None None

VPS18

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 15 . 41191438 164785.9 C T PASS 1/1 37 SYNONYMOUS_CODING LOW None None None None None None None

KDM4B

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 19 . 5041167 162536.81 T C PASS 0/1 115 SYNONYMOUS_CODING LOW None None None None None None None

KIAA0319

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 6 . 24596250 162300.81 T G PASS 1/1 146 SYNONYMOUS_CODING LOW -1.32 None None None None None None None

DOCK8

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 9 rs7854035
dbSNP
429719 162236.9 T C PASS 1/1 102 SYNONYMOUS_CODING LOW SILENT 0.99940 0.99940 0.00323 None None None None None None None

PCDHGA11

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 5 . 140802516 161354.11 G T PASS 0/1 313 SYNONYMOUS_CODING LOW 3.12 None None None None None None None

ZNF587B

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 19 . 58353113 161192.2 T C PASS 1/1 119 SYNONYMOUS_CODING LOW SILENT -0.13 None None None None None None None

KIAA0947

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 5 . 5462035 160984.08 G A PASS 1/1 44 SYNONYMOUS_CODING LOW -1.57 None None None None None None None

NUP133

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 1 . 229602489 160619.08 G A PASS 1/1 93 SYNONYMOUS_CODING LOW None None None None None None None

FYCO1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 3 . 45979726 159147.76 G T PASS 1/1 51 SYNONYMOUS_CODING LOW SILENT None None None None None None None

DDA1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 19 . 17424849 157696.14 A C,G PASS 1/1 22 SYNONYMOUS_CODING LOW SILENT None None None None None None None

TRMT6

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 20 . 5923202 156678.65 C G PASS 1/1 82 SYNONYMOUS_CODING LOW -1.44 None None None None None None None

DNAH5

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 5 . 13701416 155574.02 T C PASS 0/1 23 SYNONYMOUS_CODING LOW None None None None None None None

CMYA5

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 5 . 79028659 155158.22 T C PASS 0/1 32 SYNONYMOUS_CODING LOW SILENT None None None None None None None

KAT8

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 16 . 31141784 153963.79 A G PASS 1/1 64 SYNONYMOUS_CODING LOW None None None None None None None

PSMD13

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 11 rs1128321
dbSNP
244171 153486.99 T C PASS 0/1 63 SYNONYMOUS_CODING LOW SILENT 0.81510 0.81510 0.21936 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 11 rs1128320
dbSNP
244167 152988.99 C T PASS 0/1 61 SYNONYMOUS_CODING LOW SILENT 0.81530 0.81530 0.21828 None None None None None None None

TTC39B

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 9 . 15188108 152048.87 T C PASS 0/1 45 SYNONYMOUS_CODING LOW -0.45 None None None None None None None

FAM214B

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 9 . 35107861 151577.89 C T PASS 1/1 120 SYNONYMOUS_CODING LOW SILENT None None None None None None None

DSP

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 6 . 7571641 151128.65 G A PASS 1/1 47 SYNONYMOUS_CODING LOW None None None None None None None

EEF2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 19 . 3979410 149308.97 A G PASS 0/1 132 SYNONYMOUS_CODING LOW None None None None None None None

AC135178.1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 17 . 8263060 148757.78 T C PASS 0/1 93 SYNONYMOUS_CODING LOW None None None None None None None

OR4N2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 14 . 20296426 147536.23 A C PASS 0/1 57 SYNONYMOUS_CODING LOW None None None None None None None

TJP3

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 19 . 3730043 145962.1 C T PASS 1/1 106 SYNONYMOUS_CODING LOW None None None None None None None

IFNA4

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 9 . 21187312 145511.55 C T PASS 0/1 86 SYNONYMOUS_CODING LOW SILENT 0.39 None None None None None None None

PRSS3

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 9 . 33798019 144951.9 A G PASS 1/1 111 SYNONYMOUS_CODING LOW SILENT -0.83 None None None None None None None

TBCCD1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 3 . 186272307 143968.79 C T PASS 0/1 71 SYNONYMOUS_CODING LOW 1.24 None None None None None None None

CDH7

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 18 . 63489373 143649.76 G C PASS 1/1 44 SYNONYMOUS_CODING LOW None None None None None None None

UBAP2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 9 . 34017108 143375.05 C T PASS 1/1 58 SYNONYMOUS_CODING LOW SILENT 4.56 None None None None None None None

HIST1H1C

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 6 . 26056321 140823.87 A G PASS 1/1 67 SYNONYMOUS_CODING LOW None None None None None None None

HEYL

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 1 . 40092584 140494.86 C G PASS 1/1 8 SYNONYMOUS_CODING LOW None None None None None None None

SHMT2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 12 . 57625689 140100.89 T G PASS 1/1 75 SYNONYMOUS_CODING LOW 0.25 None None None None None None None

ZNF786

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 7 . 148767583 139232.09 T G PASS 0/1 14 SYNONYMOUS_CODING LOW None None None None None None None

NSUN2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 5 . 6605419 138580.11 C A PASS 0/1 54 SYNONYMOUS_CODING LOW SILENT None None None None None None None