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

BECN1

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 . 40963690 17250.39 G A PASS 0/1 63 SYNONYMOUS_CODING LOW None None None None None None None

TF

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 . 133472541 2939.57 C A PASS 0/1 48 SYNONYMOUS_CODING LOW 4.52 None None None None None None None

OTOL1

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 . 161221432 522.2 T A PASS 0/1 53 SYNONYMOUS_CODING LOW None None None None None None None

CRLF3

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 . 29111451 14168.31 G A PASS 0/1 50 SYNONYMOUS_CODING LOW 6.84 None None None None None None None

RASSF7

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 rs11246189
dbSNP
562437 1517.87 G A PASS 0/1 41 SYNONYMOUS_CODING LOW SILENT 0.15655 0.15650 0.20879 None None None None None None None

KRT35

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 . 39637121 12.18 C A PASS 0/1 10 SYNONYMOUS_CODING LOW None None None None None None None

KRTAP3-1

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 . 39165285 423.18 G A PASS 0/1 8 SYNONYMOUS_CODING LOW SILENT None None None None None None None

SLC51A

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 . 195959961 176.43 G A PASS 0/1 43 SYNONYMOUS_CODING LOW None None None None None None None

PDDC1

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 rs12224894
dbSNP
772490 50058.68 G A PASS 0/1 177 SYNONYMOUS_CODING LOW SILENT 0.30731 0.30730 0.39220 None None None None None None None

PIDD

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 rs7104785
dbSNP
804212 20995.82 C A PASS 0/1 107 SYNONYMOUS_CODING LOW SILENT 0.35084 0.35080 0.44586 None None None None None None None

CD151

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 rs1130663
dbSNP
837582 35801.57 G A PASS 0/1 54 SYNONYMOUS_CODING LOW SILENT 0.64217 0.64220 0.36542 None None None None None None None

MUC6

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 rs759742128
dbSNP
1017467 100.23 G A VQSRTrancheSNP99.90to100.00 0/1 53 SYNONYMOUS_CODING LOW SILENT None None None None None None None

PLEKHM2

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 . 16056339 49469.28 T A PASS 0/1 160 SYNONYMOUS_CODING LOW None None None None None None None

KLK7

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 . 51485026 713.04 G A PASS 0/1 50 SYNONYMOUS_CODING LOW None None None None None None None

FBXW10

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 . 18682002 257.62 G A PASS 0/1 72 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 17 . 18681923 3788.06 G A PASS 0/1 228 SYNONYMOUS_CODING LOW None None None None None None None

SLC51A

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 . 195959997 138.75 G A PASS 0/1 56 SYNONYMOUS_CODING LOW None None None None None None None

MUC6

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 rs57384288
dbSNP
1017773 61.45 G A PASS 0/1 45 SYNONYMOUS_CODING LOW SILENT 0.29673 0.29670 None None None None None None None

FLII

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 . 18151915 8645.73 G A PASS 1/1 73 SYNONYMOUS_CODING LOW SILENT None None None None None None None

ALDH16A1

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 . 49972209 9063.84 G A PASS 0/1 58 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 49972201 9370.72 T A PASS 0/1 61 SYNONYMOUS_CODING LOW SILENT None None None None None None None

MUC6

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 rs61869009
dbSNP
1017968 1807.51 T A PASS 1/1 40 SYNONYMOUS_CODING LOW SILENT None None None None None None None

TMEM220

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 . 10629567 58494.07 G A PASS 1/1 93 SYNONYMOUS_CODING LOW SILENT None None None None None None None

DNAH2

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 . 7689462 20194.36 G A PASS 0/1 14 SYNONYMOUS_CODING LOW SILENT None None None None None None None

MUC6

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 rs79139625
dbSNP
1027174 3874.4 G A PASS 0/1 184 SYNONYMOUS_CODING LOW SILENT 0.01318 0.01318 0.02885 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

POLR2A

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 . 7415240 27427.34 G A PASS 1/1 46 SYNONYMOUS_CODING LOW SILENT None None None None None None None

PCYT1A

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 . 195965611 159.49 G A PASS 0/1 83 SYNONYMOUS_CODING LOW None None None None None None None

DCHS1

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 . 6655505 57.92 G A PASS 0/1 2 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

TNK1

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 . 7289936 33796.89 G A PASS 0/1 20 SYNONYMOUS_CODING LOW SILENT None None None None None None None

TRIM6

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 . 5632188 97440.9 T A PASS 1/1 14 SYNONYMOUS_CODING LOW SILENT None None None None None None None

C11orf16

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 . 8948536 28796.0 C A PASS 1/1 56 SYNONYMOUS_CODING LOW None None None None None None None

TEKT1

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 . 6704204 767.47 G A PASS 0/1 55 SYNONYMOUS_CODING LOW None None None None None None None

MRFAP1

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 . 6642664 1908.5 G A PASS 1/1 45 SYNONYMOUS_CODING LOW SILENT None None None None None None None

MINK1

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 . 4789759 19818.76 G A PASS 0/1 151 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 17 . 4789440 7587.57 G A PASS 0/1 101 SYNONYMOUS_CODING LOW None None None None None None None

PLEKHA7

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 . 16816241 6992.94 G A PASS 0/1 89 SYNONYMOUS_CODING LOW None None None None None None None

KIF18A

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 . 28110143 2372.38 G A PASS 0/1 251 SYNONYMOUS_CODING LOW None None None None None None None

APIP

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 . 34916568 7953.11 C A PASS 0/1 12 SYNONYMOUS_CODING LOW SILENT None None None None None None None

CKAP5

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 . 46780544 42519.72 C A PASS 1/1 17 SYNONYMOUS_CODING LOW None None None None None None None

DLG1

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 . 197023257 10.24 G A PASS 0/1 8 SYNONYMOUS_CODING LOW None None None None None None None

MYBPC3

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 . 47359042 13771.58 G A PASS 1/1 32 SYNONYMOUS_CODING LOW SILENT None None None None None None None

SMTNL1

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 . 57314001 5090.25 C A PASS 1/1 14 SYNONYMOUS_CODING LOW None None None None None None None

GPR78

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 . 8582784 4896.15 C A PASS 0/1 30 SYNONYMOUS_CODING LOW SILENT None None None None None None None

MS4A4A

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 . 60070104 21556.59 T A PASS 0/1 7 SYNONYMOUS_CODING LOW None None None None None None None

MYBBP1A

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 rs371780582
dbSNP
4448345 25397.88 G A PASS 0/1 129 SYNONYMOUS_CODING LOW SILENT 0.00032 None None None None None None None

RIN1

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 . 66100839 5231.61 T A PASS 1/1 145 SYNONYMOUS_CODING LOW SILENT None None None None None None None

USP6

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 . 5033677 62135.54 G A PASS 1/1 149 SYNONYMOUS_CODING LOW SILENT 0.33 None None None None None None None

MMP3

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 . 102713292 90402.81 T A PASS 1/1 115 SYNONYMOUS_CODING LOW SILENT None None None None None None None

SHPK

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 . 3526752 770.48 G A PASS 0/1 27 SYNONYMOUS_CODING LOW None None None None None None None

FGFR3

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 . 1803569 9584.23 G A PASS 1/1 3 SYNONYMOUS_CODING LOW SILENT None None None None None None None

WDR81

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 . 1638896 48138.98 G A PASS 1/1 72 SYNONYMOUS_CODING LOW -0.07 None None None None None None None

VWA5A

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 . 124016607 31596.3 T A PASS 1/1 6 SYNONYMOUS_CODING LOW SILENT None None None None None None None

FBXO42

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 . 16577417 70179.55 T A VQSRTrancheSNP99.90to100.00 0/1 85 SYNONYMOUS_CODING LOW SILENT -0.42 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

C16orf3

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 . 90095697 23.63 G A PASS 0/1 43 SYNONYMOUS_CODING LOW SILENT None None None None None None None

DDX25

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 . 125776045 3778.55 G A PASS 1/1 131 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 . 10373279 2472.57 G A PASS 0/1 7 SYNONYMOUS_CODING LOW None None None None None None None

GAS8

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 . 90094124 285.25 G A PASS 0/1 7 SYNONYMOUS_CODING LOW SILENT None None None None None None None

PHLDB3

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 . 43999417 20727.29 G A PASS 1/1 36 SYNONYMOUS_CODING LOW SILENT None None None None None None None

PZP

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 . 9304242 24743.8 G A PASS 1/1 85 SYNONYMOUS_CODING LOW SILENT None None None None None None None

SMCO2

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 . 27654973 5308.38 G A PASS 1/1 23 SYNONYMOUS_CODING LOW SILENT None None None None None None None

TSPAN11

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 . 31136021 15121.3 G A PASS 0/1 40 SYNONYMOUS_CODING LOW None None None None None None None

KCNH3

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 . 49951193 3247.79 G A PASS 0/1 66 SYNONYMOUS_CODING LOW SILENT None None None None None None None

MEGF6

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 . 3496429 147.38 G A PASS 0/1 8 SYNONYMOUS_CODING LOW None None None None None None None

NELL2

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 . 45270430 2328.94 G A PASS 1/1 22 SYNONYMOUS_CODING LOW None None None None None None None

PKD1L2

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 . 81174910 13544.02 G A PASS 0/1 106 SYNONYMOUS_CODING LOW SILENT 1.71 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 16 . 81171115 9284.29 C A PASS 0/1 27 SYNONYMOUS_CODING LOW None None None None None None None

NPIPB15

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 . 74411919 25399.54 C A PASS 1/1 15 SYNONYMOUS_CODING LOW SILENT None None None None None None None

ACVRL1

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 . 52314636 6082.04 G A PASS 0/1 41 SYNONYMOUS_CODING LOW -0.35 None None None None None None None

TENC1

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 . 53456212 29679.89 G A PASS 1/1 6 SYNONYMOUS_CODING LOW SILENT None None None None None None None

NR4A1

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 . 52449882 61660.84 G A PASS 1/1 20 SYNONYMOUS_CODING LOW SILENT None None None None None None None

KRT84

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 . 52777487 18126.51 G A PASS 1/1 19 SYNONYMOUS_CODING LOW SILENT None None None None None None None

PPP1R1A

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 . 54974737 833.45 G A PASS 0/1 30 SYNONYMOUS_CODING LOW SILENT None None None None None None None

FOXA3

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 . 46375732 3905.97 G A PASS 0/1 141 SYNONYMOUS_CODING LOW None None None None None None None

RDH5

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 . 56118311 626.3 G A PASS 0/1 78 SYNONYMOUS_CODING LOW SILENT None None None None None None None

KIFC3

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 . 57803550 472.55 C A PASS 1/1 5 SYNONYMOUS_CODING LOW None None None None None None None

ZFYVE28

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 . 2273418 54600.09 G A PASS 0/1 27 SYNONYMOUS_CODING LOW SILENT None None None None None None None

TLR10

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 . 38775762 3966.15 G A PASS 1/1 76 SYNONYMOUS_CODING LOW 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

LRP1

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 . 57574955 8047.9 G A PASS 0/1 4 SYNONYMOUS_CODING LOW None None None None None None None

TLR10

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 . 38775899 6348.21 T A PASS 1/1 132 SYNONYMOUS_CODING LOW None None None None None None None

TAOK2

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 . 29989580 36959.51 G A PASS 0/1 24 SYNONYMOUS_CODING LOW None None None None None None None

NXPH4

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 . 57619392 905.86 G A PASS 1/1 10 SYNONYMOUS_CODING LOW SILENT None None None None None None None

UTP20

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 . 101685640 1725.76 G A PASS 0/1 80 SYNONYMOUS_CODING LOW None None None None None None None

GUF1

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 . 44683208 111000.83 T A PASS 1/1 8 SYNONYMOUS_CODING LOW SILENT None None None None None None None

WSCD2

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 . 108589690 594.65 G A PASS 0/1 10 SYNONYMOUS_CODING LOW SILENT None None None None None None None

FICD

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 . 108910914 1473.98 T A PASS 0/1 64 SYNONYMOUS_CODING LOW SILENT None None None None None None None

C12orf49

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 rs747392112
dbSNP
117158125 36418.82 G A PASS 0/1 49 SYNONYMOUS_CODING LOW SILENT None None None None None None None

RNF10

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 . 121001630 1245.82 G A PASS 0/1 81 SYNONYMOUS_CODING LOW 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

ERN2

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 . 23712317 201.4 T A PASS 0/1 8 SYNONYMOUS_CODING LOW None None None None None None None

RHOF

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 rs779299932
dbSNP
122231521 769.01 G A PASS 0/1 61 SYNONYMOUS_CODING LOW SILENT None None None None None None None

ACSM2B

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 . 20554263 2525.33 G A PASS 1/1 47 SYNONYMOUS_CODING LOW SILENT None None None None None None None

ZIC2

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 13 . 100635150 21712.52 G A PASS 0/1 25 SYNONYMOUS_CODING LOW None None None None None None None

ACSM2A

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 . 20480985 25007.76 G A PASS 1/1 27 SYNONYMOUS_CODING LOW SILENT None None None None None None None

ZIC2

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 13 . 100637744 62653.49 C A PASS 1/1 42 SYNONYMOUS_CODING LOW SILENT None None None None None None None

SOWAHB

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 . 77818952 26.76 G A PASS 0/1 6 SYNONYMOUS_CODING LOW None None None None None None None

LRRC14B

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 . 192037 372.77 G A PASS 0/1 63 SYNONYMOUS_CODING LOW SILENT 1.43 None None None None None None None