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Genes:
AAK1, ABCA12, ABCB11, ABCG8, ACADL, ACOXL, ACTG2, ACTR1B, ACVR1, ACVR2A, ADCY3, ADI1, ADRA2B, AFF3, AGAP1, AGFG1, AGXT, ALK, ALLC, ALMS1, ALPI, ALPP, ALPPL2, ALS2, ALS2CR11, AMER3, ANAPC1, ANKMY1, ANKRD36, ANKZF1, ANO7, APOB, AQP12B, ARHGAP25, ARHGEF4, ARMC9, ASB1, ASIC4, ASPRV1, ASTL, ATG4B, ATL2, ATP6V1B1, ATP6V1C2, B3GNT7, BARD1, BAZ2B, BCL11A, BIN1, BIRC6, BMPR2, C1QL2, C2orf16, C2orf54, C2orf61, C2orf70, C2orf73, C2orf76, CAD, CAPG, CAPN10, CAPN13, CARF, CASP10, CASP8, CCDC108, CCDC142, CCDC148, CCDC150, CCDC74B, CCDC88A, CCDC93, CCNT2, CD207, CERKL, CFLAR, CHMP3, CHPF, CHST10, CKAP2L, CLEC4F, CLHC1, CLIP4, CNGA3, CNOT11, CNPPD1, CNTNAP5, COBLL1, COL4A3, COL4A4, COL6A3, COQ10B, CPO, CPS1, CRIM1, CRYGB, CSRNP3, CTDSP1, CTNNA2, CUL3, CYP1B1, CYP26B1, CYP27C1, D2HGDH, DAPL1, DAW1, DDX1, DDX18, DGUOK, DHX57, DIS3L2, DNAH6, DNAH7, DNAJC27, DNMT3A, DOCK10, DPP10, DQX1, DRC1, DYSF, DYTN, ECEL1, EIF2AK3, EIF5B, EML4, EPB41L5, EPCAM, ESPNL, EXOC6B, FAM134A, FAM161A, FAM171B, FAM179A, FAM228A, FARP2, FASTKD1, FBXO36, FBXO41, FEZ2, FHL2, FIGLA, FMNL2, FN1, FOSL2, FOXN2, FSHR, FSIP2, G6PC2, GAL3ST2, GCA, GEN1, GLI2, GMCL1, GORASP2, GPC1, GPR1, GPR113, GPR55, GRB14, GREB1, GRHL1, GTF3C3, GYPC, HADHB, HDAC4, HEATR5B, HK2, HNMT, HPCAL1, HS1BP3, HSPD1, IFIH1, IGKV1-6, IGKV1-8, IGKV1-9, IGKV1D-16, IGKV1D-17, IGKV1D-42, IGKV1D-8, IGKV3-7, IGKV4-1, IGKV5-2, IKZF2, IL1A, IL1B, IL1F10, IL1RN, IMMT, INHA, INHBB, INO80D, INPP1, ITGA6, ITGB6, ITM2C, ITPRIPL1, ITSN2, KANSL1L, KCNJ13, KCTD18, KDM3A, KIAA1841, KIDINS220, KIF1A, KIF3C, KLF11, KLHL30, LCT, LONRF2, LPIN1, LRP1B, LRP2, LRPPRC, LRRTM1, LTBP1, LY75-CD302, MAP3K19, MAP3K2, MARCH4, MARCH7, MATN3, MCEE, MCM6, MERTK, METAP1D, METTL21A, METTL8, MFF, MFSD9, MLTK, MOGAT1, MOGS, MPHOSPH10, MPV17, MRPL35, MRPL53, MRPS9, MSH6, MTIF2, MXD1, MYO1B, MYO3B, MYO7B, MYT1L, NAGK, NAT8, NBAS, NBEAL1, NCAPH, NCKAP5, NCL, NDUFS1, NEB, NEU2, NEUROD1, NFU1, NGEF, NIF3L1, NOP58, NOSTRIN, NPAS2, NPHP1, NRP2, NT5C1B, NXPH2, OBSL1, ORC2, ORC4, OSBPL6, OSGEPL1, OTOF, PAIP2B, PARD3B, PASK, PCDP1, PDE11A, PDIA6, PELI1, PER2, PLA2R1, PLB1, PLCD4, PLCL1, PLEK, PLEKHM3, PNO1, POLR1A, POLR1B, POLR2D, POTEI, POTEJ, PPIG, PPIL3, PPP1CB, PPP1R21, PPP3R1, PRADC1, PRKAG3, PRKD3, PROC, PROKR1, PROM2, PSD4, PSME4, PTH2R, PTPN4, PTPRN, PUS10, PXDN, QPCT, R3HDM1, RAB11FIP5, RAD51AP2, RAPH1, REV1, RFTN2, RIF1, RMDN2, RMND5A, RNASEH1, RNF144A, RNF149, RNF181, SAP130, SCG2, SCLY, SCN2A, SCN3A, SCN7A, SCN9A, SCRN3, SDC1, SDPR, SEMA4F, SERPINE2, SF3B1, SF3B14, SFTPB, SGOL2, SIX3, SLC11A1, SLC20A1, SLC3A1, SLC4A3, SLC4A5, SLC5A6, SLC8A1, SLC9A2, SMARCAL1, SMPD4, SMYD1, SNRNP200, SNTG2, SOWAHC, SP100, SP110, SP140, SPEG, SPHKAP, SPOPL, SPTBN1, SSFA2, ST6GAL2, STK11IP, STK36, STK39, STON1-GTF2A1L, SULT1C3, SULT1C4, SULT6B1, TAF1B, TANC1, TBC1D8, TEKT4, TGFBRAP1, THADA, THAP4, THSD7B, TLK1, TMEM131, TMEM177, TMEM198, TMEM237, TMEM37, TMEM87B, TNFAIP6, TNS1, TPO, TRAF3IP1, TRAK2, TRAPPC12, TRMT61B, TRPM8, TSPYL6, TTC27, TTC31, TTC32, TTC7A, TTL, TTLL4, TTN, TUBA3E, UBR3, USP34, USP40, VAMP8, VWA3B, WBP1, WDPCP, WDR12, WDR33, WDR35, WDR43, WDR92, WDSUB1, WNT6, YPEL5, ZAP70, ZC3H6, ZDBF2, ZFP36L2, ZNF142, ZNF2, ZNF804A,

+ Genes associated with diseases 114

Genes at Omim

ABCA12, ABCB11, ABCG8, ACTG2, ACVR1, ADCY3, ADRA2B, AGXT, ALK, ALMS1, ALS2, APOB, ARMC9, BARD1, BCL11A, BIN1, BMPR2, CAD, CAPN10, CASP10, CASP8, CCDC88A, CD207, CERKL, CKAP2L, CNGA3, COL4A3, COL4A4, COL6A3, CPS1, CRYGB, CTNNA2, CUL3, CYP1B1, CYP26B1, D2HGDH, DGUOK, DIS3L2, DNMT3A, DRC1, DYSF, ECEL1, EIF2AK3, EPCAM, FAM161A, FIGLA, FN1, FSHR, FSIP2, GLI2, GYPC, HADHB, HNMT, HSPD1, IFIH1, IL1B, IL1RN, ITGA6, ITGB6, KCNJ13, KIDINS220, KIF1A, KLF11, LCT, LPIN1, LRP2, LRPPRC, MATN3, MCEE, MCM6, MERTK, MFF, MOGS, MPV17, MSH6, MYT1L, NBAS, NCAPH, NDUFS1, NEB, NEUROD1, NFU1, NPHP1, OBSL1, ORC4, OTOF, PDE11A, PER2, POLR1A, PPP1CB, PROC, PXDN, RNASEH1, SCN2A, SCN3A, SCN9A, SF3B1, SFTPB, SIX3, SLC3A1, SMARCAL1, SNRNP200, SP110, SPEG, TMEM237, TPO, TRAF3IP1, TRAPPC12, TTC7A, TTN, VWA3B, WDPCP, WDR35, ZAP70,

ABCA12	Ichthyosis, congenital, autosomal recessive 4A, 601277 (3) Ichthyosis, congenital, autosomal recessive 4B (harlequin), 242500 (3)
ABCB11	Cholestasis, benign recurrent intrahepatic, 2, 605479 (3) Cholestasis, progressive familial intrahepatic 2, 601847 (3)
ABCG8	{Gallbladder disease 4}, 611465 (3) Sitosterolemia, 210250 (3)
ACTG2	Visceral myopathy, 155310 (3)
ACVR1	Fibrodysplasia ossificans progressiva, 135100 (3)
ADCY3	{Obesity, susceptibility to, BMIQ19}, 617885 (3)
ADRA2B	Epilepsy, myoclonic, familial adult, 2, 607876 (3)
AGXT	Hyperoxaluria, primary, type 1, 259900 (3)
ALK	{Neuroblastoma, susceptibility to, 3}, 613014 (3)
ALMS1	Alstrom syndrome, 203800 (3)
ALS2	Amyotrophic lateral sclerosis 2, juvenile, 205100 (3) Primary lateral sclerosis, juvenile, 606353 (3) Spastic paralysis, infantile onset ascending, 607225 (3)
APOB	Hypercholesterolemia, due to ligand-defective apo B, 144010 (3) Hypobetalipoproteinemia, 615558 (3)
ARMC9	Joubert syndrome 30, 617622 (3)
BARD1	{Breast cancer, susceptibility to}, 114480 (3)
BCL11A	Dias-Logan syndrome, 617101 (3)
BIN1	Centronuclear myopathy 2, 255200 (3)
BMPR2	Pulmonary hypertension, familial primary, 1, with or without HHT, 178600 (3) Pulmonary hypertension, primary, fenfluramine or dexfenfluramine-associated, 178600 (3) Pulmonary venoocclusive disease 1, 265450 (3)
CAD	Epileptic encephalopathy, early infantile, 50, 616457 (3)
CAPN10	{Diabetes mellitus, noninsulin-dependent 1}, 601283 (3)
CASP10	Gastric cancer, somatic, 613659 (3) Autoimmune lymphoproliferative syndrome, type II, 603909 (3) Lymphoma, non-Hodgkin, somatic, 605027 (3)
CASP8	Hepatocellular carcinoma, somatic, 114550 (3) {Lung cancer, protection against}, 211980 (3) ?Autoimmune lymphoproliferative syndrome, type IIB, 607271 (3) {Breast cancer, protection against}, 114480 (3)
CCDC88A	?PEHO syndrome-like, 617507 (3)
CD207	[?Birbeck granule deficiency], 613393 (3)
CERKL	Retinitis pigmentosa 26, 608380 (3)
CKAP2L	Filippi syndrome, 272440 (3)
CNGA3	Achromatopsia 2, 216900 (3)
COL4A3	Alport syndrome 2, autosomal recessive, 203780 (3) Alport syndrome 3, autosomal dominant, 104200 (3) Hematuria, benign familial, 141200 (3)
COL4A4	Alport syndrome 2, autosomal recessive, 203780 (3) Hematuria, familial benign, 141200 (3)
COL6A3	Bethlem myopathy 1, 158810 (3) Dystonia 27, 616411 (3) Ullrich congenital muscular dystrophy 1, 254090 (3)
CPS1	Carbamoylphosphate synthetase I deficiency, 237300 (3) {Pulmonary hypertension, neonatal, susceptibility to}, 615371 (3) {Venoocclusive disease after bone marrow transplantation} (3)
CRYGB	Cataract 39, multiple types, autosomal dominant, 615188 (3)
CTNNA2	Cortical dysplasia, complex, with other brain malformations 9, 618174 (3)
CUL3	Pseudohypoaldosteronism, type IIE, 614496 (3)
CYP1B1	Anterior segment dysgenesis 6, multiple subtypes, 617315 (3) Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset, 231300 (3)
CYP26B1	Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies, 614416 (3)
D2HGDH	D-2-hydroxyglutaric aciduria, 600721 (3)
DGUOK	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880 (3) Portal hypertension, noncirrhotic, 617068 (3) Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4, 617070 (3)
DIS3L2	Perlman syndrome, 267000 (3)
DNMT3A	Acute myeloid leukemia, somatic, 601626 (3) Tatton-Brown-Rahman syndrome, 615879 (3)
DRC1	Ciliary dyskinesia, primary, 21, 615294 (3)
DYSF	Miyoshi muscular dystrophy 1, 254130 (3) Muscular dystrophy, limb-girdle, autosomal recessive 2, 253601 (3) Myopathy, distal, with anterior tibial onset, 606768 (3)
ECEL1	Arthrogryposis, distal, type 5D, 615065 (3)
EIF2AK3	Wolcott-Rallison syndrome, 226980 (3)
EPCAM	Colorectal cancer, hereditary nonpolyposis, type 8, 613244 (3) Diarrhea 5, with tufting enteropathy, congenital, 613217 (3)
FAM161A	Retinitis pigmentosa 28, 606068 (3)
FIGLA	Premature ovarian failure 6, 612310 (3)
FN1	Glomerulopathy with fibronectin deposits 2, 601894 (3) Plasma fibronectin deficiency, 614101 (1) Spondylometaphyseal dysplasia, corner fracture type, 184255 (3)
FSHR	Ovarian dysgenesis 1, 233300 (3) Ovarian hyperstimulation syndrome, 608115 (3) Ovarian response to FSH stimulation, 276400 (3)
FSIP2	Spermatogenic failure 34, 618153 (3)
GLI2	Holoprosencephaly 9, 610829 (3) Culler-Jones syndrome, 615849 (3)
GYPC	{Malaria, resistance to}, 611162 (3) [Blood group, Gerbich], 616089 (3)
HADHB	Trifunctional protein deficiency, 609015 (3)
HNMT	Mental retardation, autosomal recessive 51, 616739 (3) {Asthma, susceptibility to}, 600807 (3)
HSPD1	Leukodystrophy, hypomyelinating, 4, 612233 (3) Spastic paraplegia 13, autosomal dominant, 605280 (3)
IFIH1	Aicardi-Goutieres syndrome 7, 615846 (3) Singleton-Merten syndrome 1, 182250 (3)
IL1B	{Gastric cancer risk after H. pylori infection}, 137215 (3)
IL1RN	{Gastric cancer risk after H. pylori infection}, 137215 (3) {Microvascular complications of diabetes 4}, 612628 (3) Interleukin 1 receptor antagonist deficiency, 612852 (3)
ITGA6	Epidermolysis bullosa, junctional, with pyloric stenosis, 226730 (3)
ITGB6	Amelogenesis imperfecta, type IH, 616221 (3)
KCNJ13	Leber congenital amaurosis 16, 614186 (3) Snowflake vitreoretinal degeneration, 193230 (3)
KIDINS220	Spastic paraplegia, intellectual disability, nystagmus, and obesity, 617296 (3)
KIF1A	Mental retardation, autosomal dominant 9, 614255 (3) Neuropathy, hereditary sensory, type IIC, 614213 (3) Spastic paraplegia 30, autosomal recessive, 610357 (3)
KLF11	Maturity-onset diabetes of the young, type VII, 610508 (3)
LCT	Lactase deficiency, congenital, 223000 (3)
LPIN1	Myoglobinuria, acute recurrent, autosomal recessive, 268200 (3)
LRP2	Donnai-Barrow syndrome, 222448 (3)
LRPPRC	Leigh syndrome, French-Canadian type, 220111 (3)
MATN3	{Osteoarthritis susceptibility 2}, 140600 (3) Epiphyseal dysplasia, multiple, 5, 607078 (3) ?Spondyloepimetaphyseal dysplasia, 608728 (3)
MCEE	Methylmalonyl-CoA epimerase deficiency, 251120 (3)
MCM6	Lactase persistence/nonpersistence, 223100 (3)
MERTK	Retinitis pigmentosa 38, 613862 (3)
MFF	Encephalopathy due to defective mitochondrial and peroxisomal fission 2, 617086 (3)
MOGS	Congenital disorder of glycosylation, type IIb, 606056 (3)
MPV17	Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810 (3)
MSH6	Colorectal cancer, hereditary nonpolyposis, type 5, 614350 (3) Mismatch repair cancer syndrome, 276300 (3) {Endometrial cancer, familial}, 608089 (3)
MYT1L	Mental retardation, autosomal dominant 39, 616521 (3)
NBAS	Infantile liver failure syndrome 2, 616483 (3) Short stature, optic nerve atrophy, and Pelger-Huet anomaly, 614800 (3)
NCAPH	?Microcephaly 23, primary, autosomal recessive, 617985 (3)
NDUFS1	Mitochondrial complex I deficiency, nuclear type 5, 618226 (3)
NEB	Nemaline myopathy 2, autosomal recessive, 256030 (3)
NEUROD1	Maturity-onset diabetes of the young 6, 606394 (3) {Diabetes mellitus, noninsulin-dependent}, 125853 (3)
NFU1	Multiple mitochondrial dysfunctions syndrome 1, 605711 (3)
NPHP1	Joubert syndrome 4, 609583 (3) Nephronophthisis 1, juvenile, 256100 (3) Senior-Loken syndrome-1, 266900 (3)
OBSL1	3-M syndrome 2, 612921 (3)
ORC4	Meier-Gorlin syndrome 2, 613800 (3)
OTOF	Auditory neuropathy, autosomal recessive, 1, 601071 (3) Deafness, autosomal recessive 9, 601071 (3)
PDE11A	Pigmented nodular adrenocortical disease, primary, 2, 610475 (3)
PER2	Advanced sleep phase syndrome, familial, 1, 604348 (3)
POLR1A	Acrofacial dysostosis, Cincinnati type, 616462 (3)
PPP1CB	Noonan syndrome-like disorder with loose anagen hair 2, 617506 (3)
PROC	Thrombophilia due to protein C deficiency, autosomal dominant, 176860 (3) Thrombophilia due to protein C deficiency, autosomal recessive, 612304 (3)
PXDN	Anterior segment dysgenesis 7, with sclerocornea, 269400 (3)
RNASEH1	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2, 616479 (3)
SCN2A	Epileptic encephalopathy, early infantile, 11, 613721 (3) Seizures, benign familial infantile, 3, 607745 (3)
SCN3A	Epilepsy, familial focal, with variable foci 4, 617935 (3) Epileptic encephalopathy, early infantile, 62, 617938 (3)
SCN9A	Febrile seizures, familial, 3B, 613863 (3) HSAN2D, autosomal recessive, 243000 (3) Epilepsy, generalized, with febrile seizures plus, type 7, 613863 (3) Erythermalgia, primary, 133020 (3) Insensitivity to pain, congenital, 243000 (3) Paroxysmal extreme pain disorder, 167400 (3) Small fiber neuropathy, 133020 (3) {Dravet syndrome, modifier of}, 607208 (3)
SF3B1	Myelodysplastic syndrome, somatic, 614286 (3)
SFTPB	Surfactant metabolism dysfunction, pulmonary, 1, 265120 (3)
SIX3	Holoprosencephaly 2, 157170 (3) Schizencephaly, 269160 (3)
SLC3A1	Cystinuria, 220100 (3)
SMARCAL1	Schimke immunoosseous dysplasia, 242900 (3)
SNRNP200	Retinitis pigmentosa 33, 610359 (3)
SP110	Hepatic venoocclusive disease with immunodeficiency, 235550 (3) {Mycobacterium tuberculosis, susceptibility to}, 607948 (3)
SPEG	Centronuclear myopathy 5, 615959 (3)
TMEM237	Joubert syndrome 14, 614424 (3)
TPO	Thyroid dyshormonogenesis 2A, 274500 (3)
TRAF3IP1	Senior-Loken syndrome 9, 616629 (3)
TRAPPC12	Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, 617669 (3)
TTC7A	Gastrointestinal defects and immunodeficiency syndrome, 243150 (3)
TTN	Cardiomyopathy, dilated, 1G, 604145 (3) Cardiomyopathy, familial hypertrophic, 9, 613765 (3) Muscular dystrophy, limb-girdle, autosomal recessive 10, 608807 (3) Myopathy, proximal, with early respiratory muscle involvement, 603689 (3) Salih myopathy, 611705 (3) Tibial muscular dystrophy, tardive, 600334 (3)
VWA3B	?Spinocerebellar ataxia, autosomal recessive 22, 616948 (3)
WDPCP	?Bardet-Biedl syndrome 15, 615992 (3) ?Congenital heart defects, hamartomas of tongue, and polysyndactyly, 217085 (3)
WDR35	Cranioectodermal dysplasia 2, 613610 (3) Short-rib thoracic dysplasia 7 with or without polydactyly, 614091 (3)
ZAP70	Autoimmune disease, multisystem, infantile-onset, 2, 617006 (3) Immunodeficiency 48, 269840 (3)

Genes at Clinical Genomics Database

ABCA12, ABCB11, ABCG8, ACTG2, ACVR1, AGXT, ALK, ALMS1, ALS2, APOB, ATP6V1B1, BARD1, BCL11A, BIN1, BMPR2, CAD, CASP10, CASP8, CD207, CERKL, CKAP2L, CNGA3, COL4A3, COL4A4, COL6A3, CPS1, CRYGB, CUL3, CYP1B1, D2HGDH, DGUOK, DIS3L2, DNMT3A, DYSF, ECEL1, EIF2AK3, EPCAM, FAM161A, FIGLA, FN1, FSHR, GLI2, GYPC, HADHB, HDAC4, HNMT, HSPD1, IFIH1, IL1RN, ITGA6, ITGB6, KCNJ13, KIF1A, KLF11, LCT, LPIN1, LRP2, LRPPRC, MATN3, MCEE, MCM6, MERTK, MOGS, MPV17, MSH6, MYT1L, NBAS, NDUFS1, NEB, NEUROD1, NFU1, NPHP1, OBSL1, ORC4, OTOF, PDE11A, PER2, POLR1A, PRKAG3, PROC, PXDN, RNASEH1, SCN2A, SCN9A, SFTPB, SIX3, SLC3A1, SMARCAL1, SNRNP200, SP110, SPEG, TMEM237, TPO, TRAF3IP1, TTC7A, TTN, VWA3B, WDPCP, WDR35, ZAP70,

ABCA12	Ichthyosis, harlequin Ichthyosis, lamellar, type 2
ABCB11	Cholestasis, progressive familial intrahepatic 2
ABCG8	Sitosterolemia
ACTG2	Megacystis-microcolon-intestinal hypoperistalsis syndrome Visceral myopathy
ACVR1	Fibrodysplasia ossificans progressiva
AGXT	Hyperoxaluria, primary, type 1
ALK	Neuroblastoma, susceptibility to, 3
ALMS1	Alstrom syndrome
ALS2	Spastic paralysis, infantile onset ascending Primary lateral sclerosis, juvenile Amyotrophic lateral sclerosis 2
APOB	Hypobetalipoproteinemia, familial Hypercholesterolemia, familial
ATP6V1B1	Renal tubular acidosis with deafness
BARD1	Breast cancer, susceptibility to
BCL11A	Severe speech sound disorder
BIN1	Myopathy, centronuclear, 2
BMPR2	Pulmonary hypertension, primary Pulmonary venoocclusive disease 1
CAD	Congenital disorder of glycosylation, type Iz
CASP10	Autoimmune lymphoproliferative syndrome, type IIA
CASP8	Caspase 8 defiency
CD207	Birbeck granule deficiency
CERKL	Retinitis pigmentosa 26
CKAP2L	Filippi syndrome
CNGA3	Achromatopsia 2 Leber congenital amaurosis
COL4A3	Alport syndrome, autosomal dominant Alport syndrome, autosomal recessive
COL4A4	Alport syndrome, autosomal recessive
COL6A3	Ullrich congenital muscular dystrophy 1 Bethlem myopathy 1 Dystonia 27
CPS1	Carbamoylphosphate synthetase I deficiency
CRYGB	Cataract 39, multiple types
CUL3	Pseudohypoaldosteronism, type IIE
CYP1B1	Glaucoma, primary open angle, adult-onset Peters anomaly Glaucoma 3A, primary congenital
D2HGDH	D-2-hydroxyglutaric aciduria 1
DGUOK	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)
DIS3L2	Perlman syndrome
DNMT3A	Tatton-Brown-Rahman syndrome
DYSF	Miyoshi muscular dystrophy 1 Muscular dystrophy, limb-girdle, type 2B Myopathy, distal, with anterior tibial onset
ECEL1	Arthrogryposis, distal, type 5D
EIF2AK3	Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus Wolcott-Rallison syndrome
EPCAM	Colorectal cancer, hereditary nonpolyposis, type 8 Diarrhea 5, with tufting enteropathy, congenital
FAM161A	Retitinis pigmentosa 28
FIGLA	Premature ovarian failure 6
FN1	Glomerulopathy with fibronectin deposits 2
FSHR	Ovarian hyperstimulation syndrome Ovarian dysgenesis 1
GLI2	Culler-Jones syndrome
GYPC	Blood group, Gerbich Blood group, Webb Blood group, Duch
HADHB	Trifunctional protein deficiency
HDAC4	Brachydacytly-mental retardation syndrome
HNMT	Mental retardation, autosomal recessive 51
HSPD1	Spastic paraplegia-13 Leukodystrophy, hypomyelinating, 4
IFIH1	Singleton-Merten syndrome 1
IL1RN	Osteomyelitis, sterile multifocal, with periostitis and pustulosis
ITGA6	Epidermolysis bullosa, junctional, with pyloric stenosis
ITGB6	Amelogenesis imperfecta, type IH
KCNJ13	Snowflake vitreoretinal degeneration Leber congenital amaurosis 16
KIF1A	Mental retardation, autosomal dominant 9 Neuropathy, hereditary sensory, type IIC Spastic paraplegia 30, autosomal recessive
KLF11	Maturity-onset diabetes of the young, type VII
LCT	Lactase deficiency, congenital
LPIN1	Myoglobinuria, acute, recurrent, autosomal recessive
LRP2	Donnai-Barrow syndrome Faciooculoacousticorenal syndrome
LRPPRC	Leigh syndrome, French-Canadian type
MATN3	Spondyloepimetaphyseal dysplasia, matrilin-3 related Epiphyseal dysplasia, multiple, 5
MCEE	Methylmalonyl-CoA epimerase deficiency
MCM6	Lactose intolerance, adult type Lactase persistence
MERTK	Retinitis pigmentosa 38
MOGS	Congenital disorder of glycosylation, type IIb
MPV17	Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
MSH6	Colorectal cancer, hereditary nonpolyposis type 5 Mismatch repair cancer syndrome Endometrial cancer
MYT1L	Mental retardation, autosomal dominant 39
NBAS	Infantile liver failure syndrome 2 Short stature, optic nerve atrophy, and Pelger-Huet anomaly (SOPH syndrome)
NDUFS1	Mitochondrial complex I deficiency
NEB	Nemaline myopathy 2
NEUROD1	Maturity onset diabetes of the young 6
NFU1	Multiple mitochondrial dysfunctions syndrome 1
NPHP1	Joubert syndrome 4 Senior-Loken syndrome 1 Nephronophthisis 1
OBSL1	Three M syndrome 2
ORC4	Meier-Gorlin syndrome 2
OTOF	Deafness, autosomal recessive 9 Neuropathy, autosomal recessive, 1
PDE11A	Pigmented nodular adrenocortical disease, primary, 2
PER2	Advanced sleep phase syndrome, familial
POLR1A	Acrofacial dysostosis, Cincinnati type
PRKAG3	Increased glyogen content in skeletal muscle
PROC	Thrombophilia, hereditary, due to protein C deficiency
PXDN	Corneal opacification with other ocular anomalies
RNASEH1	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 2
SCN2A	Epileptic encephalopathy, early infantile, 11 Seizures, benign familial infantile, 3
SCN9A	Paroxysmal extreme pain disorder
SFTPB	Surfactant metabolism dysfunction, pulmonary 1
SIX3	Holoprosencephaly
SLC3A1	Cystinuria
SMARCAL1	Schimke immunoosseous dysplasia
SNRNP200	Retinitis pigmentosa 33
SP110	Hepatic venoocclusive disease with immunodeficiency
SPEG	Centronuclear myopathy 5
TMEM237	Joubert syndrome 14
TPO	Thyroid dyshormonogenesis 2A
TRAF3IP1	Senior-Loken syndrome 9
TTC7A	Gastrointestinal defects and immunodeficiency syndrome
TTN	Cardiomyopathy, familial hypertrophic 9 Cardiomyopathy, dilated, 1G
VWA3B	Spinocerebellar ataxia, autosomal recessive 22
WDPCP	Bardet-Biedl syndrome 15 Congenital heart defects, hamartomas of tongue, and polysyndactyly Meckel-Gruber syndrome type 6, modifier of
WDR35	Cranioectodermal dysplasia 2 Short -rib thoracic dysplasia 7 with or without polydactyly
ZAP70	Selective T-cell defect

Genes at HGMD

Summary

Number of Variants: 2537
Number of Genes: 424

Export to: CSV

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AAK1
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	schinzel_giedion	2	rs6721259 dbSNP Clinvar	69709919	487.78	A	G	PASS	0/1	28	SYNONYMOUS_CODING	LOW	SILENT	0.14277	0.14280	0.17491				None None	None None None None	AAK1\|0.297965723\|27.81%
	View	schinzel_giedion	2	rs56038532 dbSNP Clinvar	69736561	99.96	A	G	PASS	0/1	13	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.01418	0.01418	0.03298	0.26	0.00		None None	None None None None	AAK1\|0.297965723\|27.81%
ABCA12
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	schinzel_giedion	2	rs17501837 dbSNP Clinvar	215901774	277.79	C	T	PASS	0/1	26	SYNONYMOUS_CODING	LOW	SILENT	0.22344	0.22340	0.18976				None None	None None None None	ABCA12\|0.403146751\|20.59%
	View	schinzel_giedion	2	rs10498030 dbSNP Clinvar	215865575	542.1	T	C	PASS	0/1	39	SYNONYMOUS_CODING	LOW	SILENT	0.19549	0.19550	0.18545				None None	None None None None	ABCA12\|0.403146751\|20.59%
ABCB11
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	schinzel_giedion	2	rs497692 dbSNP Clinvar	169789016	322.66	T	C	PASS	0/1	34	SYNONYMOUS_CODING	LOW	SILENT	0.49681	0.49680	0.45460				None None	None None None None	ABCB11\|0.25846736\|30.88%
ABCG8
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	schinzel_giedion	2	rs6544718 dbSNP Clinvar	44104925	681.75	T	C	PASS	0/1	63	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.92292	0.92290	0.16277	1.00	0.00		None None	None None None None	ABCG8\|0.174377842\|39.74%
	View	schinzel_giedion	2	rs4148221 dbSNP Clinvar	44102491	286.87	C	T	PASS	0/1	27	SYNONYMOUS_CODING	LOW	SILENT	0.12760	0.12760	0.17307				None None	None None None None	ABCG8\|0.174377842\|39.74%
	View	schinzel_giedion	2	rs4148217 dbSNP Clinvar	44099433	133.98	C	A	PASS	0/1	15	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.21566	0.21570	0.21905	0.22	0.05		None None	None None None None	ABCG8\|0.174377842\|39.74%
	View	schinzel_giedion	2	rs4148211 dbSNP Clinvar	44071743	430.18	A	G	PASS	0/1	36	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.43470	0.43470	0.32085	0.01	0.09		None None	None None None None	ABCG8\|0.174377842\|39.74%
ACADL
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	schinzel_giedion	2	rs2286963 dbSNP Clinvar	211060050	655.32	T	G	PASS	0/1	48	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.21106	0.21110	0.27657	0.02	0.84		None None	None None None None	ACADL\|0.141427915\|44.21%
ACOXL
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	schinzel_giedion	2	rs1554005 dbSNP Clinvar	111598958	90.13	C	T	PASS	0/1	14	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.18291	0.18290	0.17869	0.08	0.08		None None	None None None None	ACOXL\|0.057491176\|60.56%
ACTG2
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	schinzel_giedion	2	rs756128 dbSNP Clinvar	74135898	535.94	A	G	PASS	1/1	20	SYNONYMOUS_CODING	LOW	SILENT	0.57189	0.57190	0.41004				None None	None None None None	ACTG2\|0.370515143\|22.67%
ACTR1B
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	schinzel_giedion	2	rs79616802 dbSNP Clinvar	98277090	1019.28	T	C	PASS	0/1	95	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.13319	0.13320	0.15224	0.42	0.00		None None	None None None None	ACTR1B\|0.331988418\|25.32%
ACVR1
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score