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
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Genes:
ABCA7, ABCC1, ABCC5, ABCG4, ABHD8, AC026703.1, AC105020.1, AC135178.1, ACAD11, ACAP1, ACO1, ACSBG2, ACSM2A, ACTR5, ACVRL1, ADAM17, ADAM33, ADAMTS12, ADAMTS16, ADAMTS3, ADAMTSL1, ADAMTSL5, ADCY2, ADCYAP1, ADIPOR1, ADTRP, AEBP1, AGRN, AGXT2, AHNAK, AHRR, AK8, AKAP5, AKR1A1, ALAS1, ALDH16A1, ALDH18A1, ALDH1B1, ALDH5A1, ALKBH2, ALOX15, ALOX15B, ALPL, AMACR, AMH, ANAPC1, ANGPTL4, ANKRD16, ANKRD18A, ANKRD18B, ANKRD24, ANKRD33B, ANKRD52, ANKRD62, ANKRD65, AP1G2, AP2A1, AP5B1, APEH, APOA1BP, APOBEC3B, AQP3, ARC, ARFGAP1, ARL4D, ARVCF, ASB14, ASGR2, ASPA, ASPDH, ASS1, ATAD3C, ATP13A1, ATP2B4, ATP2C2, ATP5I, ATP8B2, ATP8B3, ATP8B4, ATXN1, BAG1, BAIAP3, BASP1, BAZ2A, BCAM, BCL10, BCL7A, BECN1, BMP6, BOD1L1, BSN, BST1, BTAF1, BTBD2, BTD, BTN1A1, BTN3A1, C11orf16, C11orf24, C12orf4, C16orf3, C16orf96, C19orf59, C2CD5, C2orf71, C3, C4A, C5orf22, C5orf34, C6orf201, C6orf25, C7, C7orf60, CA11, CA5B, CACNA1E, CACNA1H, CACNA1S, CACTIN, CAD, CALM1, CAPN11, CAPN13, CARD10, CASC5, CCDC107, CCDC120, CCDC135, CCDC136, CCDC152, CCDC171, CCDC176, CCDC33, CCDC38, CCDC78, CCDC82, CCIN, CCL24, CCS, CCT5, CD2AP, CD2BP2, CD81, CDC42EP2, CDC7, CDCP2, CDH10, CDH7, CDK11A, CECR5, CEP192, CEP350, CER1, CES1, CFHR5, CHD3, CHD8, CHRD, CHRNB4, CHST3, CHSY1, CILP, CIT, CKAP5, CKM, CLC, CLCN7, CLDN6, CLEC17A, CLIC1, CLIC6, CLMN, CLPTM1L, CMYA5, CNGB1, CNTD1, CNTLN, CNTN4, CNTNAP3, COG7, COL11A2, COL4A3BP, COL6A3, COL6A5, COLGALT1, COPS7A, COPS7B, CORO1C, CPEB2, CPNE5, CPXM1, CRABP2, CRIM1, CRLF3, CROCC, CSMD1, CSNK1D, CTC1, CTD-2368P22.1, CTD-3193O13.9, CTNNBIP1, CUBN, CWH43, CYBA, CYFIP1, CYP21A2, CYP2W1, CYTH4, DAP, DARS2, DAXX, DBH, DBP, DCHS1, DCLK2, DENND1C, DHTKD1, DHX40, DKFZP434E1119, DLG1, DLX2, DLX4, DMRTC2, DNA2, DNAH1, DNAH14, DNAH3, DNAH5, DNAH8, DNAJC1, DNMT1, DOHH, DPCR1, DROSHA, DSCAM, DSN1, DSP, DUSP3, DUSP8, DYRK1A, E2F3, EBI3, ECE1, EEF2, EEFSEC, EFCAB12, EFCAB5, EGFLAM, EHBP1L1, EIF2AK3, EIF4G1, ELFN2, ELOVL5, EMC10, EMC4, EMR1, EMR3, ENDOV, ENTHD1, EP300, EPB41L3, EPPK1, EPS8L1, ERMAP, ERN2, ESCO2, EVI5L, EXOC3L4, EYA2, F13A1, F13B, F2, F2RL3, FAM151A, FAM160B1, FAM161B, FAM173B, FAM194B, FAM200B, FAM205A, FAM210A, FAM53A, FAM89B, FASN, FASTKD3, FBN1, FBXL18, FBXO18, FBXO36, FBXO42, FBXO45, FBXW10, FCGR3B, FCHSD2, FER1L6, FERMT1, FGD2, FGR, FHAD1, FHOD1, FIBP, FN1, FNBP1, FNDC5, FNDC7, FOXA3, FOXC1, FOXD4, FOXN3, FOXO1, FRMPD1, FSD1, FSIP1, FSIP2, FUT5, GABARAPL1, GAGE10, GALR3, GATM, GFI1B, GGN, GHRL, GNAL, GOLGA2, GOLGA6L4, GPR128, GPR162, GPR179, GPR25, GPR56, GPR78, GPSM2, GPX8, GRK6, GSE1, GUF1, HAGHL, HAPLN2, HAUS7, HAUS8, HCAR1, HDLBP, HEATR1, HEATR4, HEATR6, HECTD2, HENMT1, HEYL, HIST1H1C, HIST1H2AA, HIST1H2AB, HIST1H2BA, HIST1H3C, HIST1H4C, HIST1H4E, HIST1H4H, HMGCS1, HMHA1, HOOK2, HOXA13, HPR, HS3ST6, HSD17B6, HSP90AB1, HYAL1, IDH3B, IFFO2, IFNA1, IFNAR1, IFNK, IGFBPL1, IGSF22, IKZF4, IL17C, IL17RA, INF2, INO80, INSRR, IQCC, IQGAP3, IRAK2, IREB2, IRF2BP1, IRX1, ITGAE, ITIH1, ITIH3, JAK3, JARID2, JSRP1, JUND, KAT8, KCNC3, KCNQ2, KCNQ5, KDM1A, KDM1B, KDM4B, KDM8, KIAA0319, KIAA0430, KIAA0922, KIAA0947, KIAA1161, KIAA1279, KIAA1324, KIAA1467, KIF13A, KIF18A, KIF22, KIFC3, KIR2DS4, KIT, KLF11, KLF16, KLK11, KLK2, KLK7, KLRB1, KMT2A, KRT15, KRT2, KRT35, KRT84, KRTAP10-12, LAG3, LAMA2, LAMB2, LAP3, LARS2, LATS1, LDLR, LEF1, LGI4, LIFR, LILRA2, LILRB2, LILRB5, LLGL1, LMBRD2, LMOD1, LRFN4, LRIF1, LRP1, LRP4, LRPAP1, LRRC10B, LRRC37A, LRRC71, LRRC9, LTA, LTBP4, LTBR, LURAP1L, MAD1L1, MAD2L2, MAK, MALRD1, MAN2C1, MAP4K1, MARCH11, MAZ, MBD3L2, MCM7, MDM1, MEGF6, MEGF9, METRN, METTL12, METTL14, MFSD12, MGAT2, MGAT5B, MICALL2, MINK1, MLYCD, MMP17, MORC2, MOXD1, MPND, MPP6, MROH2B, MROH7, MRPL54, MRPL55, MRPS26, MS4A4A, MTRR, MUC13, MUC17, MUC2, MUC5AC, MUC5B, MUM1, MVB12B, MVD, MVP, MYBBP1A, MYBPC2, MYBPC3, MYH1, MYO10, MYO7A, MYO9B, MYOM1, NADK2, NAGPA, NBAS, NCAN, NCLN, NCOR1, NDRG4, NDUFA11, NDUFA13, NDUFA4L2, NDUFA9, NDUFB10, NDUFS6, NEDD9, NELFCD, NELL2, NEU1, NF1, NFASC, NFE2L2, NFKB2, NFKBIE, NHLRC1, NIN, NINL, NISCH, NKD2, NLGN2, NLGN3, NLRP1, NLRP13, NLRP2, NLRP7, NME8, NMI, NOL6, NOMO3, NOP56, NOTCH4, NR2C2, NR4A1, NRBP1, NRP2, NSUN2, NTHL1, NUP133, NYNRIN, OMG, OR10J3, OR13C8, OR1C1, OR1F1, OR2T8, OR4N2, OR51B4, OR52I2, OR6C6, OR6J1, OR6K2, OR7D4, OR8H3, ORC2, ORMDL2, OSBP2, OTOF, OTOL1, OXCT1, PAIP1, PAK2, PALMD, PAN2, PATL1, PCDHB8, PCDHGA11, PCDHGC3, PCDHGC5, PCID2, PCNXL2, PCYT1A, PDCD11, PDGFRA, PDLIM7, PDPR, PDZD2, PDZD8, PEAK1, PEG3, PER3, PGA5, PGD, PGM2, PHC2, PHLDB3, PHLPP2, PHYH, PI4KB, PIAS4, PIEZO2, PIK3AP1, PIK3R4, PINLYP, PIWIL2, PKD1L2, PKD2L1, PLB1, PLCD4, PLCXD3, PLD2, PLEC, PLEKHA7, PLEKHG4B, PLEKHM2, PLIN3, PLIN4, PLXNA3, PMS2, PNPLA6, POLE, POLE2, POLH, POLM, POLR1E, POLR2E, POMT1, POMT2, POTEC, POU5F1, PPFIA4, PPP1R10, PPP1R12A, PPP1R12C, PPP1R18, PPP1R3G, PPP2R1A, PPP2R5C, PRAMEF18, PRCC, PRDM1, PRDM9, PRICKLE3, PRKG1, PROM1, PRPF3, PRPF31, PRPF6, PRR14L, PRSS12, PSG8, PSMC3, PSMD8, PTGR1, PTK6, PTPN23, PTPN6, PTPRM, PTPRS, PTPRT, PYGB, PZP, RAB11FIP2, RABL5, RAD54L2, RANBP3L, RAPGEF3, RBL1, RBM15B, RELN, REXO1, RGPD1, RHOT2, RHPN1, RIC8A, RICTOR, RIMBP3, RINT1, RNASE9, RNF10, RNF168, RNF26, RNH1, ROBO4, ROPN1L, RP11-1396O13.13, RP11-145E5.5, RPL3L, RPL9, RPP40, RSL1D1, RSPH6A, RSPO3, RTEL1-TNFRSF6B, RUNDC1, RYR2, SBF2, SBNO2, SBP1, SCAF1, SCD, SCN1B, SCN3A, SCYL3, SDIM1, SEC14L5, SEC22A, SECISBP2L, SEMA3G, SEMA5A, SERPINB9, SERPINE1, SETD2, SETD5, SFSWAP, SGOL2, SH2D6, SH3GL1, SH3TC1, SHCBP1, SHMT2, SHPK, SIGLEC7, SLC12A3, SLC12A7, SLC16A3, SLC17A3, SLC1A3, SLC22A13, SLC22A18AS, SLC25A44, SLC2A5, SLC34A2, SLC51A, SLC9A3, SLCO1A2, SLCO5A1, SLIT2, SMIM22, SMO, SMTNL1, SMTNL2, SMUG1, SNRNP48, SNTA1, SNUPN, SNX33, SOGA1, SOGA2, SORBS3, SORD, SOWAHB, SPATA31A1, SPEF1, SPEF2, SPEN, SPHK2, SPOCK2, SPRYD3, SPTBN4, SPTBN5, SPTLC3, SRD5A1, SRL, SRRM2, SSFA2, STAB1, STC1, STK36, SULT1A2, SUN1, SUV420H2, SVEP1, SYNE2, SZT2, TACC3, TADA3, TAF10, TAF3, TAF5, TAF6, TAOK2, TAPBP, TAS2R13, TBC1D20, TBC1D31, TBC1D32, TBCCD1, TBXA2R, TCTE1, TDP2, TEKT1, TELO2, TEX2, TEX28P1, TF, TFRC, TG, TGFBR3L, TGM5, THEM6, TICAM1, TJP3, TLE2, TLR10, TLR6, TM4SF18, TMEM120B, TMEM129, TMEM194A, TMEM30B, TMEM80, TMIGD2, TMOD3, TMPPE, TMPRSS3, TNF, TNR, TNRC18, TNRC6C, TNXB, TOM1, TOMM5, TOP1MT, TOP2A, TOP3A, TP53, TPM2, TPPP, TPSG1, TRAF3, TRAPPC11, TRAT1, TRAV8-1, TRBV20OR9-2, TRERF1, TRIM29, TRIM49B, TRIM67, TRIO, TRIP13, TRMT6, TRPC1, TRPM7, TSC1, TSPAN11, TSR3, TTC39B, TTC6, TTLL7, TUBB, TUSC1, TXNDC2, U2AF2, UBE2O, UBE2S, UBLCP1, UBN1, UBR5, UBTD1, UBXN6, UQCC2, USP29, USP37, UTP20, UTS2R, VCP, VN1R2, VPS13C, VPS18, VPS39, VWA1, VWA3A, VWA8, WARS2, WDR24, WDR5, WDR81, WDR90, WFS1, WHSC1L1, WIZ, WNT3A, WRNIP1, YTHDC2, ZBED4, ZBTB14, ZBTB41, ZBTB46, ZC3H3, ZCCHC3, ZDHHC11B, ZER1, ZFHX2, ZFR, ZFYVE16, ZIC2, ZMAT4, ZMIZ2, ZMYND11, ZNF131, ZNF160, ZNF225, ZNF283, ZNF286A, ZNF318, ZNF416, ZNF44, ZNF461, ZNF473, ZNF518B, ZNF530, ZNF541, ZNF550, ZNF554, ZNF563, ZNF578, ZNF587B, ZNF589, ZNF622, ZNF646, ZNF77, ZNF777, ZNF786, ZNF804A, ZNF823, ZNRF4, ZZEF1,

Genes at Omim

ABCA7, ACVRL1, ADAM17, AGRN, ALDH18A1, ALDH5A1, ALPL, AMACR, AMH, ANGPTL4, AQP3, ASPA, ASS1, ATXN1, BCL10, BCL7A, BTD, C2orf71, C3, C4A, C7, CACNA1H, CACNA1S, CAD, CALM1, CASC5, CCDC78, CCT5, CD2AP, CD81, CES1, CFHR5, CHD8, CHST3, CHSY1, CILP, CIT, CLCN7, CNGB1, COG7, COL11A2, COL4A3BP, COL6A3, CSNK1D, CTC1, CUBN, CYBA, CYP21A2, DARS2, DBH, DCHS1, DHTKD1, DLX4, DNA2, DNAH5, DNMT1, DSP, DYRK1A, ECE1, EEF2, EIF2AK3, EIF4G1, ELOVL5, EP300, ERMAP, ESCO2, F13A1, F13B, F2, FBN1, FCGR3B, FIBP, FN1, FOXC1, GATM, GFI1B, GHRL, GNAL, GPR179, GPSM2, GUF1, HOXA13, HYAL1, IDH3B, IFNA1, IL17RA, INF2, JAK3, KCNC3, KCNQ2, KDM1A, KIAA0319, KIAA1279, KIF22, KIT, KLF11, KMT2A, KRT2, LAMA2, LAMB2, LARS2, LDLR, LEF1, LIFR, LRP4, LRPAP1, LTA, LTBP4, MAD1L1, MAK, MGAT2, MLYCD, MORC2, MTRR, MUC5B, MVD, MYBPC3, MYO7A, MYO9B, NADK2, NBAS, NDUFA11, NDUFA13, NDUFA9, NDUFS6, NEU1, NF1, NFKB2, NHLRC1, NIN, NLGN3, NLRP1, NME8, NOP56, NSUN2, NTHL1, OTOF, OXCT1, PCYT1A, PDGFRA, PER3, PHYH, PIEZO2, PMS2, PNPLA6, POLH, POMT1, POMT2, PPP2R1A, PRCC, PRKG1, PROM1, PRPF3, PRPF31, PRPF6, PRSS12, RELN, RNF168, RYR2, SBF2, SCN1B, SETD2, SETD5, SH3GL1, SLC12A3, SLC17A3, SLC1A3, SLC34A2, SLC9A3, SNTA1, SORD, SYNE2, SZT2, TAF6, TAPBP, TBC1D20, TBXA2R, TDP2, TELO2, TF, TFRC, TG, TGM5, TICAM1, TMPRSS3, TNF, TNXB, TOP2A, TP53, TPM2, TRAF3, TRAPPC11, TRIO, TRPM7, TSC1, TUBB, UQCC2, VCP, VPS13C, WDR81, WFS1, WHSC1L1, ZIC2, ZMYND11,
ABCA7 {Alzheimer disease 9, susceptibility to}, 608907 (3)
ACVRL1 Telangiectasia, hereditary hemorrhagic, type 2, 600376 (3)
ADAM17 ?Inflammatory skin and bowel disease, neonatal, 1, 614328 (3)
AGRN Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, 615120 (3)
ALDH18A1 Cutis laxa, autosomal dominant 3, 616603 (3)
Cutis laxa, autosomal recessive, type IIIA, 219150 (3)
Spastic paraplegia 9A, autosomal dominant, 601162 (3)
Spastic paraplegia 9B, autosomal recessive, 616586 (3)
ALDH5A1 Succinic semialdehyde dehydrogenase deficiency, 271980 (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)
ANGPTL4 Plasma triglyceride level QTL, low, 615881 (3)
AQP3 [Blood group GIL], 607457 (3)
ASPA Canavan disease, 271900 (3)
ASS1 Citrullinemia, 215700 (3)
ATXN1 Spinocerebellar ataxia 1, 164400 (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)
CACNA1H Hyperaldosteronism, familial, type IV, 617027 (3)
{Epilepsy, childhood absence, susceptibility to, 6}, 611942 (3)
{Epilepsy, idiopathic generalized, susceptibility to, 6}, 611942 (3)
CACNA1S Hypokalemic periodic paralysis, type 1, 170400 (3)
{Malignant hyperthermia susceptibility 5}, 601887 (3)
{Thyrotoxic periodic paralysis, susceptibility to, 1}, 188580 (3)
CAD ?Congenital disorder of glycosylation, type Iz, 616457 (3)
CALM1 Long QT syndrome 14, 616247 (3)
Ventricular tachycardia, catecholaminergic polymorphic, 4, 614916 (3)
CASC5 Microcephaly 4, primary, autosomal recessive, 604321 (3)
CCDC78 Myopathy, centronuclear, 4, 614807 (3)
CCT5 Neuropathy, hereditary sensory, with spastic paraplegia, 256840 (3)
CD2AP Glomerulosclerosis, focal segmental, 3, 607832 (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)
CHST3 Spondyloepiphyseal dysplasia with congenital joint dislocations, 143095 (3)
CHSY1 Temtamy preaxial brachydactyly syndrome, 605282 (3)
CILP {Lumbar disc disease, susceptibility to}, 603932 (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)
COG7 Congenital disorder of glycosylation, type IIe, 608779 (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)
COL4A3BP Mental retardation, autosomal dominant 34, 616351 (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)
CTC1 Cerebroretinal microangiopathy with calcifications and cysts, 612199 (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)
DARS2 Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105 (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)
DLX4 ?Orofacial cleft 15, 616788 (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)
DNMT1 Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant, 604121 (3)
Neuropathy, hereditary sensory, type IE, 614116 (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)
DYRK1A Mental retardation, autosomal dominant 7, 614104 (3)
ECE1 Hirschsprung disease, cardiac defects, and autonomic dysfunction, 613870 (3)
{Hypertension, essential, susceptibility to}, 145500 (3)
EEF2 ?Spinocerebellar ataxia 26, 609306 (3)
EIF2AK3 Wolcott-Rallison syndrome, 226980 (3)
EIF4G1 {Parkinson disease 18}, 614251 (3)
ELOVL5 Spinocerebellar ataxia 38, 615957 (3)
EP300 Colorectal cancer, somatic, 114500 (3)
Rubinstein-Taybi syndrome 2, 613684 (3)
ERMAP [Blood group, Radin], 111620 (3)
[Blood group, Scianna system], 111750 (3)
ESCO2 Roberts syndrome, 268300 (3)
SC phocomelia syndrome, 269000 (3)
F13A1 Factor XIIIA deficiency, 613225 (3)
{Myocardial infarction, protection against}, 608446 (3)
{Venous thrombosis, protection against}, 188050 (3)
F13B Factor XIIIB deficiency, 613235 (3)
F2 Dysprothrombinemia, 613679 (3)
Hypoprothrombinemia, 613679 (3)
Thrombophilia due to thrombin defect, 188050 (3)
{Pregnancy loss, recurrent, susceptibility to, 2}, 614390 (3)
{Stroke, ischemic, susceptibility to}, 601367 (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)
FCGR3B Neutropenia, alloimmune neonatal (3)
FIBP Thauvin-Robinet-Faivre syndrome, 617107 (3)
FN1 Glomerulopathy with fibronectin deposits 2, 601894 (3)
Plasma fibronectin deficiency, 614101 (1)
FOXC1 Axenfeld-Rieger syndrome, type 3, 602482 (3)
Iridogoniodysgenesis, type 1, 601631 (3)
Iris hypoplasia and glaucoma, 601631 (3)
Rieger or Axenfeld anomalies, 602482 (3)
GATM Cerebral creatine deficiency syndrome 3, 612718 (3)
GFI1B Bleeding disorder, platelet-type, 17, 187900 (3)
GHRL {Obesity, susceptibility to}, 601665 (3)
GNAL Dystonia 25, 615073 (3)
GPR179 Night blindness, congenital stationary (complete), 1E, autosomal recessive, 614565 (3)
GPSM2 Chudley-McCullough syndrome, 604213 (3)
GUF1 ?Epileptic encephalopathy, early infantile, 40, 617065 (3)
HOXA13 Guttmacher syndrome, 176305 (3)
Hand-foot-uterus syndrome, 140000 (3)
HYAL1 ?Mucopolysaccharidosis type IX, 601492 (3)
IDH3B Retinitis pigmentosa 46, 612572 (3)
IFNA1 Interferon, alpha, deficiency (1)
IL17RA ?Candidiasis, familial, 5, autosomal recessive, 613953 (3)
INF2 Charcot-Marie-Tooth disease, dominant intermediate E, 614455 (3)
Glomerulosclerosis, focal segmental, 5, 613237 (3)
JAK3 SCID, autosomal recessive, T-negative/B-positive type, 600802 (3)
KCNC3 Spinocerebellar ataxia 13, 605259 (3)
KCNQ2 Epileptic encephalopathy, early infantile, 7, 613720 (3)
Myokymia, 121200 (3)
Seizures, benign neonatal, 1, 121200 (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)
KRT2 Ichthyosis bullosa of Siemens, 146800 (3)
LAMA2 Muscular dystrophy, congenital merosin-deficient, 607855 (3)
Muscular dystrophy, congenital, due to partial LAMA2 deficiency, 607855 (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)
LDLR Hypercholesterolemia, familial, 143890 (3)
LDL cholesterol level QTL2, 143890 (3)
LEF1 Sebaceous tumors, somatic (3)
LIFR Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, 601559 (3)
LRP4 ?Myasthenic syndrome, congenital, 17, 616304 (3)
Cenani-Lenz syndactyly syndrome, 212780 (3)
Sclerosteosis 2, 614305 (3)
LRPAP1 Myopia 23, autosomal recessive, 615431 (3)
LTA {Leprosy, susceptibility to, 4}, 610988 (3)
{Myocardial infarction, susceptibility to}, 608446 (3)
{Psoriatic arthritis, susceptibility to}, 607507 (3)
LTBP4 Cutis laxa, autosomal recessive, type IC, 613177 (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)
MLYCD Malonyl-CoA decarboxylase deficiency, 248360 (3)
MORC2 Charcot-Marie-Tooth disease, axonal, type 2Z, 616688 (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)
MYO7A Deafness, autosomal dominant 11, 601317 (3)
Deafness, autosomal recessive 2, 600060 (3)
Usher syndrome, type 1B, 276900 (3)
MYO9B {Celiac disease, susceptibility to, 4}, 609753 (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)
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)
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)
NFKB2 Immunodeficiency, common variable, 10, 615577 (3)
NHLRC1 Epilepsy, progressive myoclonic 2B (Lafora), 254780 (3)
NIN ?Seckel syndrome 7, 614851 (3)
NLGN3 {Asperger syndrome susceptibility, X-linked 1}, 300494 (3)
{Autism susceptibility, X-linked 1}, 300425 (3)
NLRP1 ?Corneal intraepithelial dyskeratosis and ectodermal dysplasia, 615225 (3)
{Vitiligo-associated multiple autoimmune disease susceptibility 1}, 606579 (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)
OXCT1 Succinyl CoA:3-oxoacid CoA transferase deficiency, 245050 (3)
PCYT1A Spondylometaphyseal dysplasia with cone-rod dystrophy, 608940 (3)
PDGFRA Gastrointestinal stromal tumor, somatic, 606764 (3)
Hypereosinophilic syndrome, idiopathic, resistant to imatinib, 607685 (3)
PER3 ?Advanced sleep phase syndrome, familial, 3, 616882 (3)
PHYH Refsum disease, 266500 (3)
PIEZO2 ?Marden-Walker syndrome, 248700 (3)
Arthrogryposis, distal, type 3, 114300 (3)
Arthrogryposis, distal, type 5, 108145 (3)
PMS2 Colorectal cancer, hereditary nonpolyposis, type 4, 614337 (3)
Mismatch repair cancer syndrome, 276300 (3)
PNPLA6 ?Laurence-Moon syndrome, 245800 (3)
Boucher-Neuhauser syndrome, 215470 (3)
Oliver-McFarlane syndrome, 275400 (3)
Spastic paraplegia 39, autosomal recessive, 612020 (3)
POLH Xeroderma pigmentosum, variant type, 278750 (3)
POMT1 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1, 236670 (3)
Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1, 613155 (3)
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1, 609308 (3)
POMT2 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, 613150 (3)
Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2, 613156 (3)
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2, 613158 (3)
PPP2R1A Mental retardation, autosomal dominant 36, 616362 (3)
PRCC Renal cell carcinoma, papillary, 605074 (3)
PRKG1 Aortic aneurysm, familial thoracic 8, 615436 (3)
PROM1 Cone-rod dystrophy 12, 612657 (3)
Macular dystrophy, retinal, 2, 608051 (3)
Retinitis pigmentosa 41, 612095 (3)
Stargardt disease 4, 603786 (3)
PRPF3 Retinitis pigmentosa 18, 601414 (3)
PRPF31 Retinitis pigmentosa 11, 600138 (3)
PRPF6 Retinitis pigmentosa 60, 613983 (3)
PRSS12 Mental retardation, autosomal recessive 1, 249500 (3)
RELN Lissencephaly 2 (Norman-Roberts type), 257320 (3)
{Epilepsy, familial temporal lobe, 7}, 616436 (3)
RNF168 RIDDLE syndrome, 611943 (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)
SETD2 Luscan-Lumish syndrome, 616831 (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)
SLC1A3 Episodic ataxia, type 6, 612656 (3)
SLC34A2 Pulmonary alveolar microlithiasis, 265100 (3)
SLC9A3 Diarrhea 8, secretory sodium, congenital, 616868 (3)
SNTA1 Long QT syndrome 12, 612955 (3)
SORD ?Cataract, congenital (2)
SYNE2 Emery-Dreifuss muscular dystrophy 5, autosomal dominant, 612999 (3)
SZT2 Epileptic encephalopathy, early infantile, 18, 615476 (3)
TAF6 Alazami-Yuan syndrome, 617126 (3)
TAPBP Bare lymphocyte syndrome, type I, 604571 (3)
TBC1D20 Warburg micro syndrome 4, 615663 (3)
TBXA2R {Bleeding disorder, platelet-type, 13, susceptibility to}, 614009 (3)
TDP2 Spinocerebellar ataxia, autosomal recessive 23, 616949 (3)
TELO2 You-Hoover-Fong syndrome, 616954 (3)
TF Atransferrinemia, 209300 (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)
TMPRSS3 Deafness, autosomal recessive 8/10, 601072 (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)
TOP2A DNA topoisomerase II, resistance to inhibition of, by amsacrine (3)
TP53 Adrenal cortical carcinoma, 202300 (3)
Breast cancer, 114480 (3)
Choroid plexus papilloma, 260500 (3)
Colorectal cancer, 114500 (3)
Hepatocellular carcinoma, 114550 (3)
Li-Fraumeni syndrome, 151623 (3)
Nasopharyngeal carcinoma, 607107 (3)
Osteosarcoma, 259500 (3)
Pancreatic cancer, 260350 (3)
{Basal cell carcinoma 7}, 614740 (3)
{Glioma susceptibility 1}, 137800 (3)
TPM2 Arthrogryposis multiplex congenita, distal, type 1, 108120 (3)
Arthrogryposis, distal, type 2B, 601680 (3)
CAP myopathy 2, 609285 (3)
Nemaline myopathy 4, autosomal dominant, 609285 (3)
TRAF3 {?Herpes simplex encephalitis, susceptibility to, 3}, 614849 (3)
TRAPPC11 Muscular dystrophy, limb-girdle, type 2S, 615356 (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)
TUBB Cortical dysplasia, complex, with other brain malformations 6, 615771 (3)
Symmetric circumferential skin creases, congenital, 1, 156610 (3)
UQCC2 ?Mitochondrial complex III deficiency, nuclear type 7, 615824 (3)
VCP Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia, 613954 (3)
Charcot-Marie-Tooth disease, type 2Y, 616687 (3)
Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1, 167320 (3)
VPS13C Parkinson disease 23, autosomal recessive, early onset, 616840 (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)

Genes at Clinical Genomics Database

ACVRL1, ADAM17, AGRN, ALDH18A1, ALDH5A1, ALPL, AMACR, AMH, AQP3, ASPA, ASS1, ATXN1, BCAM, BCL10, BTD, C3, C4A, C7, CACNA1S, CAD, CALM1, CCT5, CD2AP, CD81, CES1, CHD8, CHST3, CHSY1, CLCN7, CNGB1, COG7, COL11A2, COL4A3BP, COL6A3, CSNK1D, CTC1, CUBN, CYBA, CYP21A2, DARS2, DBH, DCHS1, DHTKD1, DLX4, DNA2, DNAH1, DNAH5, DNMT1, DSP, DYRK1A, ECE1, EIF2AK3, EIF4G1, ELOVL5, EP300, ERMAP, ESCO2, F13A1, F13B, F2, FBN1, FERMT1, FN1, FOXC1, GATM, GFI1B, GNAL, GPR179, GPSM2, HOXA13, HYAL1, IDH3B, IL17RA, INF2, JAK3, KCNC3, KCNQ2, KDM1A, KIF22, KIT, KLF11, KMT2A, KRT2, LAMA2, LAMB2, LARS2, LDLR, LIFR, LRP1, LRP4, LRPAP1, LTBP4, MAK, MGAT2, MLYCD, MORC2, MTRR, MVD, MYBPC3, MYO7A, NADK2, NBAS, NDUFA11, NDUFA13, NDUFA9, NDUFS6, NEU1, NF1, NFKB2, NHLRC1, NIN, NLGN3, NLRP1, NLRP7, NME8, NOP56, NTHL1, OTOF, OXCT1, PCYT1A, PDGFRA, PER3, PHYH, PIEZO2, PLEC, PMS2, PNPLA6, POLE, POLH, POMT1, POMT2, PPP2R1A, PRKG1, PROM1, PRPF3, PRPF31, PRPF6, PRSS12, RELN, RNF168, RYR2, SBF2, SCN1B, SERPINE1, SETD2, SETD5, SLC12A3, SLC1A3, SLC34A2, SNTA1, SYNE2, SZT2, TAPBP, TBC1D20, TBXA2R, TDP2, TF, TFRC, TG, TGM5, TICAM1, TMPRSS3, TNXB, TP53, TPM2, TRAF3, TRAPPC11, TSC1, TUBB, UQCC2, VCP, VPS13C, VPS39, WDR81, WFS1, ZIC2, ZMYND11,
ACVRL1 Hereditary hemorrhagic telangiectasia, type 2
ADAM17 Inflammatory skin and bowel disease, neonatal 1
AGRN Myasthenic syndrome, congenital 8
ALDH18A1 Spastic paraplegia 9B, autosomal recessive
Cutis laxa, autosomal recessive, type IIIA
Spastic paraplegia 9A, autosomal dominant
Cutis laxa, autosomal dominant 3
ALDH5A1 Succinic semialdehyde dehydrogenase deficiency
ALPL Odontohypophosphatasia
Hypophosphatasia, infantile
AMACR Alpha-methylacyl-CoA racemase deficiency
Bile acid synthesis defect, congenital, 4
AMH Persistent Mullerian duct syndrome, type I
AQP3 Blood group, GIL
ASPA Aspartoacylase deficiency (Canavan disease)
ASS1 Citrullinemia
ATXN1 Spinocerebellar ataxia 1
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
CACNA1S Hypokalemic periodic paralysis, type 1
Thyrotoxic period paralysis, susceptibility 1
Malignant hyperthermia susceptibility 5
CAD Congenital disorder of glycosylation, type Iz
CALM1 Ventricular tachycardia, catecholaminergic polymorphic, 4
Recurrent cardiac arrest, infantile
Long QT syndrome 14
CCT5 Neuropathy, hereditary sensory, with spastic paraplegia
CD2AP Focal segmental glomerulosclerosis 3
CD81 Immunodeficiency, common variable, 6
CES1 Carboxylesterase 1 deficiency
CHD8 Autism, susceptibility to 18
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
COG7 Congenital disorder of glycosylation, type IIe
COL11A2 Stickler syndrome, type III
Otospondylomegaepiphyseal dysplasia
Weissenbacher-Zweymuller syndrome
Fibrochondrogenesis 2
Deafness, autosomal recessive 53
Deafness, autosomal dominant 13
COL4A3BP Mental retardation, autosomal dominant 34
COL6A3 Dystonia 27
Bethlem myopathy 1
Ullrich congenital muscular dystrophy 1
CSNK1D Advanced sleep-phase syndrome, familial, 2
CTC1 Cerebroretinal microangiopathy with calcifications and cysts
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
DARS2 Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation
DBH Dopamine beta-hydroxylase deficiency
DCHS1 Mitral valve prolapse 2
DHTKD1 2-aminoadipic and 2-oxoadipic aciduria
Charcot-Marie-Tooth disease, type 2Q
DLX4 Orofacial cleft 15
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
DNMT1 Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant
Neuropathy, hereditary sensory, type IE
DSP Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis
Cardiomyopathy, dilated, with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia, familial 8
DYRK1A Mental retardation, autosomal dominant 7
ECE1 Hirschsprung disease, cardiac defects, and autonomic dysfunction
EIF2AK3 Wolcott-Rallison syndrome
Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus
EIF4G1 Macular dystrophy with central cone involvement
Parkinson disease 18
ELOVL5 Spinocerebellar ataxia 39
EP300 Rubinstein-Taybi syndrome 2
ERMAP Blood group, Radin
Blood group, Scianna system
ESCO2 Roberts syndrome
SC phocomelia syndrome
F13A1 Factor XIIIA deficiency
F13B Factor XIIIB deficiency
F2 Thrombophilia due to thrombin defect
Prothrombin deficiency, congenital
FBN1 Marfan lipodystrophy syndrome
Shprintzen-Goldberg syndrome
MASS syndrome
Marfan syndrome
FERMT1 Kindler syndrome
FN1 Glomerulopathy with fibronectin deposits 2
FOXC1 Iridogoiodysgenesis, type 1
Axenfeld-Rieger syndrome, type 3
Peters anomaly
GATM Cerebral creatine deficiency syndrome 3
GFI1B Bleeding disorder, platelet-type, 17
GNAL Primary torsion dystonia
GPR179 Night blindness, congenital stationary, type 1E
GPSM2 Deafness, autosomal recessive 82
Chudley-McCullough syndrome
HOXA13 Hand-foot-uterus syndrome
Guttmacher syndrome
Hand-foot-genital syndrome
HYAL1 Mucopolysaccharidosis type IX
IDH3B Retinitis pigmentosa, autosomal recessive, IDH3B-related
IL17RA Candiasis, familial, 5
INF2 Charcot-Marie-Tooth disease, dominant intermediate E
Focal segmental glomerulosclerosis 5
JAK3 Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, natural killer cell-negative
KCNC3 Spinocerebellar ataxia 13
KCNQ2 Myokymia
Benign familial neonatal seizures, 1
Epileptic encephalopathy, early infantile, 7
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
KRT2 Ichthyosis exfoliativa
Ichthyosis bullosa of Siemens
LAMA2 Schizophrenia
Muscular dystrophy, congenital merosin-deficient, 1A
LAMB2 Nephrotic syndrome, type 5, with or without ocular abnormalities
Pierson syndrome
LARS2 Perrault syndrome 4
LDLR Hypercholesterolemia, familial
LIFR Stuve-Wiedemann syndrome
LRP1 Schizophrenia
LRP4 Sclerosteosis 2
Myasthenic syndrome, congenital 17
Cenani-Lenz syndactyly syndrome
LRPAP1 Myopia 23, autosomal recessive
LTBP4 Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities
MAK Retinitis pigmentosa 62
MGAT2 Congenital disorder of glycosylation, type IIa
MLYCD Malonyl-CoA decarboxylase deficiency
MORC2 Charcot-Marie-Tooth disease type, axonal, type 2Z
MTRR Homocystinuria-megaloblastic anemia, cobalamin E type
MVD Porokeratosis 7
MYBPC3 Left ventricular noncompaction 10
Cardiomyopathy, dilated, 1MM
Cardiomyopathy, familial hypertrophic, 4
MYO7A Usher syndrome, type 1B
Deafness, autosomal recessive 2
NADK2 2,4-dienoyl-CoA reductase deficiency
NBAS Short stature, optic nerve atrophy, and Pelger-Huet anomaly (SOPH syndrome)
Infantile liver failure syndrome 2
NDUFA11 Mitochondrial complex I deficiency
NDUFA13 Thyroid carcinoma, Hurthle cell
NDUFA9 Leigh syndrome
Mitochondrial complex I deficiency
NDUFS6 Mitochondrial complex I deficiency
NEU1 Sialidosis, type II
Sialidosis, type I
NF1 Watson syndrome
Neurofibromatosis type 1, Neurofibromatosis-Noonan syndrome
NFKB2 Immunodeficiency, common variable, 10
NHLRC1 Epilepsy, progressive myoclonic 2B (Lafora)
NIN Seckel syndrome 7
NLGN3 Autism, X-linked 1
Asperger syndrome, X-linked 1
NLRP1 Corneal intraepithelial dyskeratosis and ectodermal dysplasia
NLRP7 Hydatidiform mole, recurrent, 1
NME8 Ciliary dyskinesia, primary, 6
NOP56 Spinocerebellar ataxia 36
NTHL1 Familial adenomatous polyposis 3
OTOF Neuropathy, autosomal recessive, 1
Deafness, autosomal recessive 9
OXCT1 Succinyl CoA:3-oxoacid CoA transferase deficiency
PCYT1A Spondylometaphyseal dysplasia with cone-rod dystrophy
PDGFRA Gastrointestinal stromal tumor
PER3 Advanced sleep phase syndrome, familial, 3
PHYH Refsum disease
PIEZO2 Marden-Walker syndrome
Distal arthrogryposis type 5
Distal arthrogryposis type 3
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
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
POLH Xeroderma pigmentosum, variant type
POMT1 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1
Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1
POMT2 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C 2
Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2
PPP2R1A Mental retardation, autosomal dominant 36
PRKG1 Aortic aneurysm, familial thoracic 8
PROM1 Retinitis pigmentosa 41
Stargardt disease 4
Macular dystrophy, retinal, 2
Cone-rod dystrophy 12
PRPF3 Retinitis pigmentosa 18
PRPF31 Retinitis pigmentosa 11
PRPF6 Retinitis pigmentosa 60
PRSS12 Mental retardation, autosomal recessive 1
RELN Lissencephaly 2
Epilepsy, familial temporal lobe, 7
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
SERPINE1 Plasminogen activator inhibitor-1 deficiency
SETD2 Luscan-Lumish syndrome
SETD5 Mental retardation, autosomal dominant 23
SLC12A3 Gitelman syndrome
SLC1A3 Episodic ataxia, type 6
SLC34A2 Pulmonary alveolar microlithiasis
SNTA1 Long QT syndrome 12
SYNE2 Emery-Dreifuss muscular dystrophy 5, autosomal dominant
SZT2 Epileptic encephalopathy, early infantile, 18
TAPBP Bare lymphocyte syndrome, type I
TBC1D20 Warburg micro syndrome 4
TBXA2R Bleeding disorder, platelet-type 13, susceptibility to
TDP2 Spinocerebellar ataxia, autosomal recessive 23
TF Atransferrinemia
TFRC Immunodeficiency 46
TG Thyroid dyshormonogenesis 3
TGM5 Peeling skin syndrome 2
TICAM1 Herpes simplex encephalitis, susceptibility to, 4
TMPRSS3 Deafness, autosomal recessive 8
Deafness, autosomal recessive 10
TNXB Ehlers-Danlos syndrome, autosomal recessive, due to tenascin X deficiency
Vesicoureteral reflux 8
TP53 Colorectal cancer
Adrenocortical carcinoma
Non-Hodgkin lymphoma
Hepatoblastoma
Breast cancer, familial
Osteogenic sarcoma
Ependymoma, intracranial
Choroid plexus papilloma
Li-Fraumeni syndrome
TPM2 Arthrogryposis, distal, type 2B
Arthrogryposis, distal, type 1A
CAP myopathy
Nemaline myopathy 4
TRAF3 Herpes simplex encephalitis, susceptibility to, 3
TRAPPC11 Limb-girdle muscular dystrophy, type 2S
TSC1 Lymphangioleiomyomatosis
Tuberous sclerosis
TUBB Cortical dysplasia, complex, with other brain malformations 6
Congenital symmetric circumferential skin creases 1
UQCC2 Mitochondrial complex III deficiency, nuclear type 7
VCP Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1
Charcot-Marie-Tooth disease type, axonal type, 2Y
Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia
VPS13C Parkinson disease 23, autosomal recessive, early onset
VPS39 Schizophrenia
WDR81 Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2
WFS1 Wolfram syndrome
ZIC2 Holoprosencephaly 5
ZMYND11 Mental retardation, autosomal domianant, 30

Genes at HGMD

Summary

Number of Variants: 2286
Number of Genes: 930

Export to: CSV

ABCA7

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 . 1042810 39128.36 A G PASS 0/1 53 SYNONYMOUS_CODING LOW 0.62 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 1047162 17063.54 A G PASS 0/1 137 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 1056228 3207.57 T C PASS 0/1 67 SYNONYMOUS_CODING LOW None None None None None None None

ABCC1

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 . 16138344 14960.56 GT G PASS 1/1 85 FRAME_SHIFT HIGH None None None None None None None

ABCC5

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 . 183643468 1152.62 T C PASS 0/1 96 SYNONYMOUS_CODING LOW None None None None None None None

ABCG4

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 . 119024976 16786.46 C T PASS 0/1 76 SYNONYMOUS_CODING LOW 1.95 None None rs8192696 2 not_specified 1 None

ABHD8

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 . 17405591 173947.24 A AG... PASS 1/1 52 FRAME_SHIFT HIGH None None None None None None None

AC026703.1

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 5 . 32789746 98255.74 T C PASS 0/1 45 SYNONYMOUS_CODING LOW None None None None None None None

AC105020.1

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 15 . 75971117 78.51 C T PASS 0/1 29 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

ACAD11

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 . 132350184 12606.13 CAAG C PASS 0/1 9 CODON_CHANGE_PLUS_CODON_DELETION+SPLICE_SITE_REGION MODERATE None None None None None None None

ACAP1

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 . 7247233 77667.15 A G PASS 1/1 45 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 17 . 7251263 1613.9 T C PASS 0/1 36 PROTEIN_INTERACTION_LOCUS HIGH 0.34 None None None None None None None

ACO1

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 . 32448907 434.63 C T PASS 0/1 50 SYNONYMOUS_CODING LOW 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

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 . 20480982 25138.76 A T PASS 1/1 26 SYNONYMOUS_CODING LOW None None None None None None None

ACTR5

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 . 37384622 937.31 A G PASS 1/1 1 SYNONYMOUS_CODING LOW 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

ADAM17

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 2 . 9630460 956.07 G GC... PASS 0/1 63 CODON_INSERTION MODERATE None None None None None None None

ADAM33

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 . 3660176 7261.63 C T PASS 0/1 39 SYNONYMOUS_CODING LOW None None None None None None None

ADAMTS12

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 . 33649800 24156.11 G A PASS 0/1 12 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 5 . 33596088 66982.23 A G PASS 0/1 13 SYNONYMOUS_CODING LOW None None None None None None None

ADAMTS16

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 . 5140845 4080.2 T A PASS 0/1 35 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 5 . 5186299 1002.9 A AGG PASS 1/1 5 FRAME_SHIFT HIGH None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 5 . 5146282 55555.32 A G PASS 0/1 72 SYNONYMOUS_CODING LOW -1.57 None None None None None None None

ADAMTS3

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 . 73149092 8644.84 A C PASS 0/1 12 SYNONYMOUS_CODING LOW None None None None None None None

ADAMTSL1

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 . 18906749 794.64 C T PASS 0/1 80 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 9 . 18777370 20558.1 T C PASS 1/1 231 SYNONYMOUS_CODING LOW None None None None None None None

ADAMTSL5

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 . 1510662 3193.05 A G PASS 1/1 21 SYNONYMOUS_CODING LOW None None None None None None None

ADCY2

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 . 7757602 64107.18 C T,* PASS 0/2 21 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 5 . 7757570 235.63 TG... T PASS 0/1 21 FRAME_SHIFT HIGH None None None None None None None

ADCYAP1

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 . 907709 725.66 A G PASS 0/1 82 SYNONYMOUS_CODING LOW 1.18 None None None None None None None

ADIPOR1

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 . 202920079 16125.15 T C PASS 1/1 7 SYNONYMOUS_CODING LOW None None None None None None None

ADTRP

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 . 11723599 38041.98 G A PASS 0/1 18 SYNONYMOUS_CODING LOW None None None None None None None

AEBP1

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 . 44146206 927.5 C G PASS 0/1 9 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 44146187 945.79 GC G PASS 0/1 13 FRAME_SHIFT HIGH None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 44149675 5004.29 T C PASS 0/1 29 SYNONYMOUS_CODING LOW None None None None None None None

AGRN

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 . 978953 2556.26 C G PASS 1/1 77 SYNONYMOUS_CODING LOW -0.89 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 1 . 979496 7139.58 T C PASS 1/1 154 SYNONYMOUS_CODING LOW -1.06 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 1 . 978812 2145.18 G C PASS 1/1 31 SYNONYMOUS_CODING LOW None None None None None None None

AGXT2

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 . 35026578 43471.39 A G PASS 1/1 38 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 5 . 35026594 1190.28 GA G,GAA PASS 0/1 15 FRAME_SHIFT HIGH None None None None None None None

AHNAK

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 . 62297372 101810.75 G C PASS 1/1 17 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 11 . 62296427 33097.79 C CA PASS 1/1 72 FRAME_SHIFT HIGH None None None None None None None

AHRR

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 . 434607 4210.22 G C PASS 1/1 58 SYNONYMOUS_CODING LOW 0.18 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 5 . 413524 16457.61 G C PASS 0/1 49 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 5 . 353936 35681.1 T C PASS 1/1 42 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 5 . 428051 5249.91 GC G PASS 1/1 28 FRAME_SHIFT HIGH None None None None None None None

AK8

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 . 135702420 25393.63 A AC PASS 0/1 15 FRAME_SHIFT HIGH None None None None None None None

AKAP5

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 . 64935443 834.19 A G PASS 0/1 79 SYNONYMOUS_CODING LOW None None None None None None None

AKR1A1

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 . 46035598 3562.57 C T PASS 0/1 159 SYNONYMOUS_CODING LOW None None None None None None None

ALAS1

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 . 52238929 2980.7 C CG... PASS 0/1 12 FRAME_SHIFT+SPLICE_SITE_REGION HIGH 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

ALDH18A1

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 10 . 97385107 23560.28 GA... G,* PASS 2/2 9 PROTEIN_INTERACTION_LOCUS HIGH 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 . 38396068 81154.55 G T PASS 0/1 143 SYNONYMOUS_CODING LOW 3.85 None None rs2073478 2 not_specified 1 None

ALDH5A1

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 . 24520633 249.71 AGT AG... PASS 0/1 5 FRAME_SHIFT HIGH None None None None None None None

ALKBH2

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 . 109526297 12307.3 C T PASS 0/1 48 SYNONYMOUS_CODING LOW None None None None None None None

ALOX15

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 . 4536206 59597.63 C G PASS 1/1 96 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 17 . 4536237 54569.19 T C PASS 0/1 174 SYNONYMOUS_CODING LOW None None None None None None None

ALOX15B

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 . 7945769 67584.53 C G PASS 0/1 60 PROTEIN_INTERACTION_LOCUS HIGH 0.52 0.00 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

AMACR

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 . 33988430 1405.42 C T PASS 0/1 9 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 5 . 34007995 8025.79 C T PASS 0/1 114 SYNONYMOUS_CODING LOW 0.94 None None rs3195676 3 not_specified 0 None
View 23 recalibrated filtered postcgp gqfiltered 5 . 34008101 2993.35 CC... C PASS 0/1 13 FRAME_SHIFT HIGH None None None None None None None

AMH

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 . 2251818 28071.26 T C PASS 1/1 130 SYNONYMOUS_CODING LOW 0.79 None None None None None None None

ANAPC1

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 2 . 112588931 639.42 C T PASS 0/1 27 SYNONYMOUS_CODING LOW None None None None None None None

ANGPTL4

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 . 8430881 4404.37 G A PASS 0/1 28 SYNONYMOUS_CODING LOW None None None None None None None

ANKRD16

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 10 . 5925043 2539.92 T C PASS 1/1 14 SYNONYMOUS_CODING LOW None None None None None None None

ANKRD18A

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 . 38615701 26878.84 C T PASS 0/1 69 SYNONYMOUS_CODING LOW -0.61 None None None None None None None

ANKRD18B

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 . 33524686 2716.7 G A PASS 0/1 121 SYNONYMOUS_CODING LOW 1.19 None None None None None None None

ANKRD24

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 . 4198157 533.8 C T PASS 0/1 45 SYNONYMOUS_CODING LOW None None None None None None None

ANKRD33B

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 . 10638252 785.18 A G PASS 0/1 47 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 5 . 10564734 1243.18 C T PASS 1/1 24 SYNONYMOUS_CODING LOW None None None None None None None

ANKRD52

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 . 56638439 342.17 GA G,GAA PASS 0/1 25 FRAME_SHIFT HIGH None None None None None None None

ANKRD62

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 . 12094032 446.37 G T PASS 0/1 26 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 18 . 12115510 769.66 G A PASS 0/1 22 SYNONYMOUS_CODING LOW 2.45 None None None None None None None

ANKRD65

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 . 1355779 91.05 GA G PASS 1/1 2 FRAME_SHIFT HIGH None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 1 . 1354531 42271.69 G A PASS 1/1 56 SYNONYMOUS_CODING LOW None None None None None None None

AP1G2

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 . 24036513 14791.13 C G PASS 0/1 133 SYNONYMOUS_CODING LOW None None None None None None None

AP2A1

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 . 50310006 3233.06 T G PASS 1/1 16 SYNONYMOUS_CODING LOW None None None None None None None

AP5B1

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 . 65547343 16627.52 CG C PASS 0/1 5 FRAME_SHIFT HIGH None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 11 . 65547431 1946.4 C T PASS 0/1 112 SYNONYMOUS_CODING LOW 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 . 49714385 25.07 G A PASS 0/1 4 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 3 . 49720317 254.45 GA G,GAA PASS 1/1 2 FRAME_SHIFT HIGH None None None None None None None

APOA1BP

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 . 156561682 12871.7 A G PASS 1/1 11 SYNONYMOUS_CODING LOW None None None None None None None

APOBEC3B

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 22 . 39381817 50807.99 C CCAA PASS 0/1 100 CODON_CHANGE_PLUS_CODON_INSERTION+SPLICE_SITE_REGION MODERATE None None None None None None None

AQP3

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 . 33442954 111693.51 G A PASS 1/1 59 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 9 . 33447426 8864.57 C G PASS 1/1 70 SYNONYMOUS_CODING LOW None None None None None None None

ARC

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 . 143694543 15920.63 A C PASS 1/1 101 SYNONYMOUS_CODING LOW None None None None None None None

ARFGAP1

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 . 61910271 12246.34 C T PASS 0/1 8 SYNONYMOUS_CODING LOW None None None None None None None

ARL4D

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 . 41477102 8619.26 C T PASS 0/1 100 SYNONYMOUS_START LOW 3.80 None None None None None None None

ARVCF

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 22 . 19967324 1103.06 G A PASS 0/1 74 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 22 . 19968739 14958.26 G GC PASS 0/1 55 FRAME_SHIFT HIGH None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 22 . 19967393 164.28 AT A,ATT PASS 0/2 30 FRAME_SHIFT HIGH None None None None None None None

ASB14

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 . 57322300 241.67 C A PASS 0/1 14 SYNONYMOUS_CODING LOW None None None None None None None

ASGR2

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 . 7012082 581.15 C G PASS 0/1 65 SYNONYMOUS_CODING LOW None None None None None None None

ASPA

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 . 3397649 1127.63 G A PASS 0/1 75 PROTEIN_INTERACTION_LOCUS HIGH 0.26 0.41 None None None None None None None

ASPDH

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 . 51015663 149.63 C T PASS 0/1 19 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 51016003 10791.0 C T PASS 1/1 101 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 51016195 9735.46 T C PASS 1/1 44 SYNONYMOUS_CODING LOW None None None None None None None