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+ Genes 570

Genes:
A4GNT, AADAC, ABCC5, ABTB1, ACAA1, ACAD11, ACAD9, ACTL6A, ACTR8, ADAMTS9, ADCY5, ADPRH, AGTR1, AHSG, ALAS1, ALCAM, ALDH1L1, ALG1L, ALS2CL, AMIGO3, AMOTL2, AMT, ANKRD28, ANKUB1, ANO10, AP2M1, APEH, ARGFX, ARHGAP31, ARHGEF26, ARHGEF3, ARL14, ARL8B, ARPP21, ATG3, ATG7, ATP11B, ATP13A4, ATP13A5, ATP2B2, ATR, B4GALT4, BCL6, BFSP2, BHLHE40, BOC, BRPF1, BSN, BTD, BTLA, C3orf17, C3orf18, C3orf20, C3orf22, C3orf27, C3orf30, C3orf33, C3orf35, C3orf36, C3orf38, C3orf52, C3orf58, C3orf62, C3orf79, C3orf80, CACNA1D, CACNA2D2, CACNA2D3, CADPS, CAND2, CAPN7, CASR, CAV3, CBLB, CCDC12, CCDC13, CCDC14, CCDC36, CCDC37, CCDC39, CCDC50, CCDC51, CCDC58, CCDC66, CCDC71, CCR2, CCR4, CCRL2, CD200, CD200R1, CD200R1L, CD86, CD96, CDCP1, CDHR4, CEP70, CEP97, CHDH, CHL1, CHMP2B, CHRD, CHST13, CLCN2, CLDN1, CLDN18, CLSTN2, CMC1, CMSS1, CNBP, CNTN3, CNTN4, CNTN6, COL6A5, COL6A6, COL7A1, COMMD2, COPG1, CP, CPA3, CPB1, CPN2, CPNE4, CPOX, CRELD1, CRTAP, CRYBG3, CSPG5, CSRNP1, CSTA, CX3CR1, CYP8B1, DAG1, DALRD3, DBR1, DCLK3, DCP1A, DCUN1D1, DGKG, DHX36, DLEC1, DLG1, DNAH1, DNAH12, DNAJB11, DNAJB8, DNAJC13, DNASE1L3, DOCK3, DPH3, DRD3, DZIP1L, DZIP3, EAF1, EBLN2, ECE2, ECT2, EDEM1, EEFSEC, EFCC1, EFHB, EIF4G1, EOGT, EOMES, EPHA3, EPHA6, EPHB1, EPM2AIP1, ERC2, EXOSC7, FAIM, FAM107A, FAM194A, FAM198A, FAM208A, FAM3D, FAM43A, FBLN2, FBXO40, FBXW12, FETUB, FGD5, FILIP1L, FLNB, FNDC3B, FOXL2, FOXP1, FRMD4B, FYCO1, FYTTD1, GALNT15, GATA2, GBE1, GCSAM, GFM1, GK5, GLB1, GLYCTK, GMNC, GMPPB, GNB4, GNL3, GOLGB1, GOLIM4, GORASP1, GP5, GPD1L, GPR128, GPR15, GPR156, GPR160, GPR62, GPR87, GPX1, GRM7, GUCA1C, GXYLT2, GYG1, H1FOO, HCLS1, HEG1, HEMK1, HHATL, HHLA2, HLTF, HPS3, HRG, HSPBAP1, HTR3C, HTR3D, HTR3E, HYAL1, HYAL2, HYAL3, IFRD2, IFT80, IGF2BP2, IGSF10, IGSF11, IL17RB, IL17RC, IL17RD, IL17RE, IL1RAP, ILDR1, IMPG2, IP6K2, IQCB1, IQCF1, IQCF2, IQCF3, IQSEC1, IRAK2, ITGA9, ITGB5, ITIH1, ITIH3, ITIH4, ITPR1, JAGN1, KALRN, KAT2B, KBTBD12, KCNAB1, KCNMB2, KCNMB3, KIAA1407, KIAA1524, KIAA2018, KIF15, KIF9, KLHL40, KLHL6, KNG1, KPNA1, KY, LAMB2, LAMP3, LARS2, LEKR1, LIMD1, LIPH, LNP1, LPP, LRCH3, LRIG1, LRRC2, LRRC31, LRRC34, LRRC3B, LRRIQ4, LRRN1, LSG1, LTF, LXN, LZTFL1, MAATS1, MAGI1, MAP3K13, MAP4, MAP6D1, MASP1, MCCC1, MCF2L2, MCM2, MED12L, MFI2, MFN1, MFSD1, MGLL, MINA, MKRN2, MLF1, MORC1, MST1, MST1R, MUC13, MUC20, MUC4, MYH15, MYLK, MYNN, MYRIP, NAALADL2, NAT6, NBEAL2, NCEH1, NDUFB5, NEK10, NEK11, NFKBIZ, NISCH, NIT2, NKIRAS1, NKTR, NME9, NR1D2, NR1I2, NR2C2, NRROS, NT5DC2, NUP210, OGG1, OR5AC2, OR5H1, OR5H14, OR5H15, OR5H2, OR5H6, OR5K3, OR5K4, OTOL1, OXNAD1, OXSR1, OXTR, P2RY1, P2RY12, P2RY13, PARP14, PARP15, PARP3, PARP9, PBRM1, PCBP4, PCOLCE2, PDHB, PDIA5, PDZRN3, PHF7, PHLDB2, PIGZ, PLA1A, PLCD1, PLCH1, PLD1, PLOD2, PLS1, PLSCR1, PLSCR2, PLXNA1, PLXNB1, PLXND1, PODXL2, POGLUT1, POLQ, POLR2H, POMGNT2, POPDC2, PP2D1, PPP2R3A, PPP4R2, PRICKLE2, PRKCD, PROS1, PRR23A, PRR23C, PRRT3, PTH1R, PTPLB, PTPN23, PTPRG, PTX3, PYDC2, RAB5A, RAD18, RARRES1, RASA2, RASSF1, RBM5, RBM6, RFT1, RFTN1, RNF123, RNF168, ROBO1, RPL14, RPL29, RPN1, RPUSD3, RTP1, RTP2, RTP4, RYBP, RYK, SACM1L, SATB1, SCAP, SCN10A, SCN11A, SCN5A, SEC22C, SEMA3F, SEMA3G, SEMA5B, SENP7, SERPINI2, SETD2, SETMAR, SH3BP5, SHQ1, SI, SIDT1, SKIL, SLC12A8, SLC15A2, SLC22A13, SLC22A14, SLC25A26, SLC25A38, SLC2A2, SLC35A5, SLC35G2, SLC41A3, SLC4A7, SLC51A, SLC6A11, SLC6A20, SLC7A14, SLC9A9, SLC9C1, SLCO2A1, SLMAP, SMARCC1, SPATA12, SPATA16, SPCS1, SPICE1, SPINK8, SPSB4, SRGAP3, SRPRB, SSUH2, STAB1, STAG1, STX19, SUCLG2, SUMF1, SUSD5, TAMM41, TATDN2, TDGF1, TF, TFG, TGFBR2, TGM4, THRB, THUMPD3, TIMMDC1, TLR9, TM4SF1, TM4SF19, TM4SF4, TMCC1, TMEM110-MUSTN1, TMEM158, TMEM40, TMEM43, TMEM44, TMF1, TMIE, TMPRSS7, TNFSF10, TNIK, TNK2, TNNC1, TOMM70A, TOPAZ1, TOPBP1, TPRA1, TRAK1, TRANK1, TREX1, TRH, TRIM42, TRIM59, TRIM71, TRMT10C, TRNT1, TRPC1, TTC21A, TTLL3, TWF2, TXNRD3, U2SURP, UBP1, ULK4, UPK1B, UROC1, USP13, USP4, UTS2B, VEPH1, VGLL4, VILL, VIPR1, VPS8, VWA5B2, WDR48, WDR49, WDR52, WDR53, WNT7A, XIRP1, XPC, XXYLT1, XYLB, YEATS2, ZBBX, ZBTB38, ZBTB47, ZCWPW2, ZDHHC19, ZDHHC23, ZKSCAN7, ZNF148, ZNF35, ZNF385D, ZNF501, ZNF502, ZNF589, ZNF619, ZNF620, ZNF621, ZNF639, ZNF654, ZNF662, ZNF717, ZNF80, ZNF852, ZNF860, ZXDC,

+ Genes associated with diseases 129

Genes at Omim

ACAD9, ADCY5, AGTR1, AHSG, AMT, ANO10, ARHGAP31, ATP2B2, ATR, BCL6, BFSP2, BRPF1, BTD, CACNA1D, CASR, CAV3, CCDC39, CCDC50, CCR2, CD96, CHMP2B, CLCN2, CLDN1, CNBP, COL7A1, CP, CPOX, CRELD1, CRTAP, CSTA, CX3CR1, DAG1, DNAH1, DNAJB11, DNASE1L3, DOCK3, DRD3, DZIP1L, EIF4G1, EOGT, FLNB, FOXL2, FOXP1, FYCO1, GATA2, GBE1, GFM1, GLB1, GLYCTK, GMPPB, GNB4, GPD1L, GPX1, GYG1, HPS3, HRG, HYAL1, IFT80, IGF2BP2, IL17RC, IL17RD, ILDR1, IMPG2, IQCB1, ITIH4, ITPR1, JAGN1, KALRN, KLHL40, KNG1, KY, LAMB2, LARS2, LIPH, LPP, LZTFL1, MASP1, MCCC1, MCM2, MLF1, MST1R, MYLK, NBEAL2, OGG1, P2RY12, PDHB, PLCD1, PLD1, PLOD2, POGLUT1, POMGNT2, PRKCD, PROS1, RFT1, RNF168, SCN10A, SCN11A, SCN5A, SETD2, SI, SLC25A26, SLC25A38, SLC2A2, SLC6A20, SLC7A14, SLC9A9, SLCO2A1, SPATA16, STAG1, SUMF1, TDGF1, TF, TFG, TGFBR2, THRB, TIMMDC1, TMEM43, TMIE, TNIK, TNNC1, TRAK1, TREX1, TRH, TRMT10C, TRNT1, UROC1, WNT7A, XPC, ZNF148,
ACAD9 Mitochondrial complex I deficiency, nuclear type 20, 611126 (3)
ADCY5 Dyskinesia, familial, with facial myokymia, 606703 (3)
AGTR1 {Hypertension, essential}, 145500 (3)
Renal tubular dysgenesis, 267430 (3)
AHSG ?Alopecia-mental retardation syndrome 1, 203650 (3)
AMT Glycine encephalopathy, 605899 (3)
ANO10 Spinocerebellar ataxia, autosomal recessive 10, 613728 (3)
ARHGAP31 Adams-Oliver syndrome 1, 100300 (3)
ATP2B2 {Deafness, autosomal recessive 12, modifier of}, 601386 (3)
ATR ?Cutaneous telangiectasia and cancer syndrome, familial, 614564 (3)
Seckel syndrome 1, 210600 (3)
BCL6 Lymphoma, B-cell (2)
BFSP2 Cataract 12, multiple types, 611597 (3)
BRPF1 Intellectual developmental disorder with dysmorphic facies and ptosis, 617333 (3)
BTD Biotinidase deficiency, 253260 (3)
CACNA1D Primary aldosteronism, seizures, and neurologic abnormalities, 615474 (3)
Sinoatrial node dysfunction and deafness, 614896 (3)
CASR Hyperparathyroidism, neonatal, 239200 (3)
Hypocalcemia, autosomal dominant, 601198 (3)
Hypocalcemia, autosomal dominant, with Bartter syndrome, 601198 (3)
Hypocalciuric hypercalcemia, type I, 145980 (3)
{Epilepsy idiopathic generalized, susceptibility to, 8}, 612899 (3)
CAV3 Cardiomyopathy, familial hypertrophic, 192600 (3)
Creatine phosphokinase, elevated serum, 123320 (3)
Long QT syndrome 9, 611818 (3)
Myopathy, distal, Tateyama type, 614321 (3)
Rippling muscle disease 2, 606072 (3)
CCDC39 Ciliary dyskinesia, primary, 14, 613807 (3)
CCDC50 ?Deafness, autosomal dominant 44, 607453 (3)
CCR2 {HIV infection, susceptibility/resistance to} (3)
CD96 C syndrome, 211750 (3)
CHMP2B Amyotrophic lateral sclerosis 17, 614696 (3)
Dementia, familial, nonspecific, 600795 (3)
CLCN2 Hyperaldosteronism, familial, type II, 605635 (3)
Leukoencephalopathy with ataxia, 615651 (3)
{Epilepsy, idiopathic generalized, susceptibility to, 11}, 607628 (3)
{Epilepsy, juvenile absence, susceptibility to, 2}, 607628 (3)
{Epilepsy, juvenile myoclonic, susceptibility to, 8}, 607628 (3)
CLDN1 Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis, 607626 (3)
CNBP Myotonic dystrophy 2, 602668 (3)
COL7A1 EBD inversa, 226600 (3)
EBD, Bart type, 132000 (3)
EBD, localisata variant (3)
Epidermolysis bullosa dystrophica, AD, 131750 (3)
Epidermolysis bullosa dystrophica, AR, 226600 (3)
Epidermolysis bullosa pruriginosa, 604129 (3)
Epidermolysis bullosa, pretibial, 131850 (3)
Toenail dystrophy, isolated, 607523 (3)
Transient bullous of the newborn, 131705 (3)
CP Hemosiderosis, systemic, due to aceruloplasminemia, 604290 (3)
Cerebellar ataxia, 604290 (3)
[Hypoceruloplasminemia, hereditary], 604290 (3)
CPOX Harderoporphyria, 121300 (3)
Coproporphyria, 121300 (3)
CRELD1 Atrioventricular septal defect, partial, with heterotaxy syndrome, 606217 (3)
{Atrioventricular septal defect, susceptibility to, 2}, 606217 (3)
CRTAP Osteogenesis imperfecta, type VII, 610682 (3)
CSTA Peeling skin syndrome 4, 607936 (3)
CX3CR1 {Macular degeneration, age-related, 12}, 613784 (3)
{Rapid progression to AIDS from HIV1 infection}, 609423 (3)
{Coronary artery disease, resistance to}, 607339 (3)
DAG1 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9, 616538 (3)
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9, 613818 (3)
DNAH1 ?Ciliary dyskinesia, primary, 37, 617577 (3)
Spermatogenic failure 18, 617576 (3)
DNAJB11 Polycystic kidney disease 6 with or without polycystic liver disease, 618061 (3)
DNASE1L3 Systemic lupus erythematosus 16, 614420 (3)
DOCK3 Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia, 618292 (3)
DRD3 {Essential tremor, hereditary, 1}, 190300 (3)
{Schizophrenia, susceptibility to}, 181500 (3)
DZIP1L Polycystic kidney disease 5, 617610 (3)
EIF4G1 {Parkinson disease 18}, 614251 (3)
EOGT Adams-Oliver syndrome 4, 615297 (3)
FLNB Atelosteogenesis, type I, 108720 (3)
Atelosteogenesis, type III, 108721 (3)
Boomerang dysplasia, 112310 (3)
Larsen syndrome, 150250 (3)
Spondylocarpotarsal synostosis syndrome, 272460 (3)
FOXL2 Blepharophimosis, epicanthus inversus, and ptosis, type 1, 110100 (3)
Blepharophimosis, epicanthus inversus, and ptosis, type 2, 110100 (3)
Premature ovarian failure 3, 608996 (3)
FOXP1 Mental retardation with language impairment and with or without autistic features, 613670 (3)
FYCO1 Cataract 18, autosomal recessive, 610019 (3)
GATA2 {Leukemia, acute myeloid, susceptibility to}, 601626 (3)
{Myelodysplastic syndrome, susceptibility to}, 614286 (3)
Immunodeficiency 21, 614172 (3)
Emberger syndrome, 614038 (3)
GBE1 Glycogen storage disease IV, 232500 (3)
Polyglucosan body disease, adult form, 263570 (3)
GFM1 Combined oxidative phosphorylation deficiency 1, 609060 (3)
GLB1 GM1-gangliosidosis, type I, 230500 (3)
GM1-gangliosidosis, type II, 230600 (3)
GM1-gangliosidosis, type III, 230650 (3)
Mucopolysaccharidosis type IVB (Morquio), 253010 (3)
GLYCTK D-glyceric aciduria, 220120 (3)
GMPPB Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14, 615350 (3)
Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14, 615351 (3)
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14, 615352 (3)
GNB4 Charcot-Marie-Tooth disease, dominant intermediate F, 615185 (3)
GPD1L Brugada syndrome 2, 611777 (3)
GPX1 Hemolytic anemia due to glutathione peroxidase deficiency, 614164 (1)
GYG1 ?Glycogen storage disease XV, 613507 (3)
Polyglucosan body myopathy 2, 616199 (3)
HPS3 Hermansky-Pudlak syndrome 3, 614072 (3)
HRG Thrombophilia due to HRG deficiency, 613116 (3)
Thrombophilia due to elevated HRG, 613116 (1)
HYAL1 ?Mucopolysaccharidosis type IX, 601492 (3)
IFT80 Short-rib thoracic dysplasia 2 with or without polydactyly, 611263 (3)
IGF2BP2 {Diabetes mellitus, noninsulin-dependent, susceptibility to}, 125853 (3)
IL17RC Candidiasis, familial, 9, 616445 (3)
IL17RD Hypogonadotropic hypogonadism 18 with or without anosmia, 615267 (3)
ILDR1 Deafness, autosomal recessive 42, 609646 (3)
IMPG2 Macular dystrophy, vitelliform, 5, 616152 (3)
Retinitis pigmentosa 56, 613581 (3)
IQCB1 Senior-Loken syndrome 5, 609254 (3)
ITIH4 {Hypercholesterolemia, susceptibility to}, 143890 (3)
ITPR1 Gillespie syndrome, 206700 (3)
Spinocerebellar ataxia 15, 606658 (3)
Spinocerebellar ataxia 29, congenital nonprogressive, 117360 (3)
JAGN1 Neutropenia, severe congenital, 6, autosomal recessive, 616022 (3)
KALRN {Coronary heart disease, susceptibility to, 5}, 608901 (3)
KLHL40 Nemaline myopathy 8, autosomal recessive, 615348 (3)
KNG1 [High molecular weight kininogen deficiency], 228960 (3)
[Kininogen deficiency], 228960 (3)
KY Myopathy, myofibrillar, 7, 617114 (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)
LIPH Hypotrichosis 7, 604379 (3)
Woolly hair, autosomal recessive 2 with or without hypotrichosis, 604379 (3)
LPP Leukemia, acute myeloid, 601626 (3)
Lipoma (3)
LZTFL1 Bardet-Biedl syndrome 17, 615994 (3)
MASP1 3MC syndrome 1, 257920 (3)
MCCC1 3-Methylcrotonyl-CoA carboxylase 1 deficiency, 210200 (3)
MCM2 ?Deafness, autosomal dominant 70, 616968 (3)
MLF1 Leukemia, acute myeloid, 601626 (1)
MST1R {Nasopharyngeal carcinoma, susceptibility to, 3}, 617075 (3)
MYLK Aortic aneurysm, familial thoracic 7, 613780 (3)
NBEAL2 Gray platelet syndrome, 139090 (3)
OGG1 Renal cell carcinoma, clear cell, somatic, 144700 (3)
P2RY12 Bleeding disorder, platelet-type, 8, 609821 (3)
PDHB Pyruvate dehydrogenase E1-beta deficiency, 614111 (3)
PLCD1 Nail disorder, nonsyndromic congenital, 3, (leukonychia), 151600 (3)
PLD1 Cardiac valvular defect, developmental, 212093 (3)
PLOD2 Bruck syndrome 2, 609220 (3)
POGLUT1 Dowling-Degos disease 4, 615696 (3)
?Muscular dystrophy, limb-girdle, autosomal recessive 21, 617232 (3)
POMGNT2 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8, 614830 (3)
Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8, 618135 (3)
PRKCD Autoimmune lymphoproliferative syndrome, type III, 615559 (3)
PROS1 Thrombophilia due to protein S deficiency, autosomal dominant, 612336 (3)
Thrombophilia due to protein S deficiency, autosomal recessive, 614514 (3)
RFT1 Congenital disorder of glycosylation, type In, 612015 (3)
RNF168 RIDDLE syndrome, 611943 (3)
SCN10A Episodic pain syndrome, familial, 2, 615551 (3)
SCN11A Episodic pain syndrome, familial, 3, 615552 (3)
Neuropathy, hereditary sensory and autonomic, type VII, 615548 (3)
SCN5A Atrial fibrillation, familial, 10, 614022 (3)
Brugada syndrome 1, 601144 (3)
Cardiomyopathy, dilated, 1E, 601154 (3)
Heart block, nonprogressive, 113900 (3)
Heart block, progressive, type IA, 113900 (3)
Long QT syndrome-3, 603830 (3)
{Sudden infant death syndrome, susceptibility to}, 272120 (3)
Sick sinus syndrome 1, 608567 (3)
Ventricular fibrillation, familial, 1, 603829 (3)
SETD2 Luscan-Lumish syndrome, 616831 (3)
SI Sucrase-isomaltase deficiency, congenital, 222900 (3)
SLC25A26 Combined oxidative phosphorylation deficiency 28, 616794 (3)
SLC25A38 Anemia, sideroblastic, 2, pyridoxine-refractory, 205950 (3)
SLC2A2 Fanconi-Bickel syndrome, 227810 (3)
{Diabetes mellitus, noninsulin-dependent}, 125853 (3)
SLC6A20 Hyperglycinuria, 138500 (3)
Iminoglycinuria, digenic, 242600 (3)
SLC7A14 Retinitis pigmentosa 68, 615725 (3)
SLC9A9 {?Autism susceptibility 16}, 613410 (3)
SLCO2A1 Hypertrophic osteoarthropathy, primary, autosomal recessive 2, 614441 (3)
SPATA16 ?Spermatogenic failure 6, 102530 (3)
STAG1 Mental retardation, autosomal dominant 47, 617635 (3)
SUMF1 Multiple sulfatase deficiency, 272200 (3)
TDGF1 Forebrain defects (3)
TF Atransferrinemia, 209300 (3)
TFG Hereditary motor and sensory neuropathy, Okinawa type, 604484 (3)
?Spastic paraplegia 57, autosomal recessive, 615658 (3)
TGFBR2 Colorectal cancer, hereditary nonpolyposis, type 6, 614331 (3)
Loeys-Dietz syndrome 2, 610168 (3)
Esophageal cancer, somatic, 133239 (3)
THRB Thyroid hormone resistance, 188570 (3)
Thyroid hormone resistance, autosomal recessive, 274300 (3)
Thyroid hormone resistance, selective pituitary, 145650 (3)
TIMMDC1 Mitochondrial complex I deficiency, nuclear type 31, 618251 (3)
TMEM43 Arrhythmogenic right ventricular dysplasia 5, 604400 (3)
Emery-Dreifuss muscular dystrophy 7, AD, 614302 (3)
TMIE Deafness, autosomal recessive 6, 600971 (3)
TNIK Mental retardation, autosomal recessive 54, 617028 (3)
TNNC1 Cardiomyopathy, dilated, 1Z, 611879 (3)
Cardiomyopathy, hypertrophic, 13, 613243 (3)
TRAK1 Epileptic encephalopathy, early infantile, 68, 618201 (3)
TREX1 Aicardi-Goutieres syndrome 1, dominant and recessive, 225750 (3)
Chilblain lupus, 610448 (3)
{Systemic lupus erythematosus, susceptibility to}, 152700 (3)
Vasculopathy, retinal, with cerebral leukodystrophy, 192315 (3)
TRH Thyrotropin-releasing hormone deficiency, 275120 (1)
TRMT10C Combined oxidative phosphorylation deficiency 30, 616974 (3)
TRNT1 Retinitis pigmentosa and erythrocytic microcytosis, 616959 (3)
Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, 616084 (3)
UROC1 ?Urocanase deficiency, 276880 (3)
WNT7A Fuhrmann syndrome, 228930 (3)
Ulna and fibula, absence of, with severe limb deficiency, 276820 (3)
XPC Xeroderma pigmentosum, group C, 278720 (3)
ZNF148 Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies, 617260 (3)

Genes at Clinical Genomics Database

ACAD9, ADCY5, AGTR1, ALS2CL, AMT, ANO10, ARHGAP31, ATR, BFSP2, BTD, CACNA1D, CACNA2D2, CASR, CAV3, CCDC14, CCDC39, CCDC50, CD96, CHMP2B, CLCN2, CLDN1, CNBP, COL7A1, CP, CPOX, CRELD1, CRTAP, CSTA, DAG1, DNAH1, DNAJC13, DNASE1L3, EIF4G1, EOGT, FLNB, FOXL2, FOXP1, FYCO1, GATA2, GBE1, GFM1, GLB1, GLYCTK, GMPPB, GNB4, GPD1L, GYG1, HPS3, HRG, HYAL1, IFT80, IL17RC, IL17RD, ILDR1, IMPG2, IQCB1, ITPR1, JAGN1, KLHL40, KNG1, LAMB2, LARS2, LIPH, LZTFL1, MASP1, MCCC1, MYLK, NBEAL2, P2RY12, PBRM1, PDHB, PLCD1, PLOD2, POGLUT1, POMGNT2, PRICKLE2, PRKCD, PROS1, PTH1R, RFT1, RNF168, SCN11A, SCN5A, SETD2, SI, SLC25A26, SLC25A38, SLC2A2, SLC6A20, SLC7A14, SLC9A9, SLCO2A1, SPATA16, SUMF1, TDGF1, TF, TFG, TGFBR2, THRB, TMEM43, TMIE, TNNC1, TREX1, TRNT1, UROC1, WNT7A, XPC,
ACAD9 Acyl-CoA dehydrogenase family, member 9, deficiency of
ADCY5 Dyskinesia, familial, with facial myokymia
AGTR1 Renal tubular dysgenesis
ALS2CL Schizophrenia
AMT Glycine encephalopathy
ANO10 Spinocerebellar ataxia, autosomal recessive 10
ARHGAP31 Adams-Oliver syndrome 1
ATR Cutaneous telangiectasia and cancer syndrome, familial
Seckel syndrome 1
BFSP2 Cataract 12, multiple types
BTD Biotinidase deficiency
CACNA1D Primary aldosteronism, seizures, and neurologic abnormalities
Sinoatrial node dysfunction and deafness
CACNA2D2 Early infantile epileptic encephalopathy, High voltage gated calcium channelopathy-related, autosomal recessive
CASR Hyperparathyroidism, neonatal
Hypocalcemia, autosomal dominant
Hypocalcemia, autosomal dominant, with Bartter syndrome
Hypocalciuric hypercalcemia, type I
Hyperparathyroidism, neonatal severe primary
Hypoparathyroidism, familial isolated
Hyperparathyroidism, familial primary
CAV3 Cardiomyopathy, familial hypertrophic
Long QT syndrome 9
Creatine phosphokinase, elevated serum
CCDC14 Hypotonia, infantile, with psychomotor retardation
CCDC39 Ciliary dyskinesia, primary, 14
CCDC50 Deafness, autosomal dominant 44
CD96 C syndrome( Opitz Trigonocephaly syndrome)
CHMP2B Amyotrophic lateral sclerosis, CHMP2B-related
Dementia, familial, nonspecific
Frontotemporal dementia, chromosome 3-linked
CLCN2 Epilepsy, idiopathic, generalized, susceptibility to, 11
Epilepsy, juvenile, absence, suscepibility to, 2
Epilepsy, juvenile myoclonic, susceptibility to, 8
Leukoencephalopathy with ataxia
CLDN1 Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis
CNBP Myotonic dystrophy 2
COL7A1 Epidermolysis bullosa dystrophica, autosomal dominant
Epidermolysis bullosa dystrophica, autosomal recessive
Epidermolysis bullosa dystrophica inversia
Epidermolysis bullosa pruriginosa
Nail disorder, nonsyndromic congenital, 8
Epidermolysis bullosa dystrophica, Bart type
Epidermolysis bullosa, pretibial
Transient bullous dermolysis of the newborn
CP Aceruloplasminemia
Hypoceruloplasminemia
CPOX Coproporphyria
Harderoporphyria
CRELD1 Atrioventricular septal defect, partial, with or without heterotaxy
CRTAP Osteogenesis imperfecta, type VII
CSTA Peeling skin syndrome 4
DAG1 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9
Muscular dystrophy-dystroglycanopathy, type C, 9
DNAH1 Spermatogenic failure
DNAJC13 Parkinson disease 21
DNASE1L3 Systemic lupus erythematosus 16
EIF4G1 Parkinson disease 18
Macular dystrophy with central cone involvement
EOGT Adams-Oliver syndrome 4
FLNB Larsen syndrome
Spondylocarpotarsal synostosis syndrome
Boomerang dysplasia
Atelosteogenesis, type I
Atelosteogenesis, type III
FOXL2 Blepharophimosis, epicanthus inversus, and ptosis, type 1
Blepharophimosis, epicanthus inversus, and ptosis, type 2
Premature ovarian failure 3
FOXP1 Mental retardation with language impairment and autistic features
FYCO1 Cataract, autosomal recessive congenital 2
GATA2 Immunodeficiency 21
Emberger syndrome
Myelodysplastic syndrome
Acute myeloid leukemia, familial
Chronic neutropenia associated with monocytopenia, evolving to myelodysplasia and acute myeloid leukemia
GBE1 Glycogen storage disease IV
GFM1 Combined oxidative phosphorylation deficiency 1
GLB1 Mucopolysaccharidosis type IVB (Morquio syndrome B)
GM1-gangliosidosis, type I
GM1-gangliosidosis, type II
GM1-gangliosidosis, type III
GLYCTK D-glyceric aciduria
GMPPB Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14
Limb-girdle muscular dystrophy-dystroglycanopathy, type B, 14
Limb-girdle muscular dystrophy-dystroglycanopathy, type C, 14
GNB4 Charcot-Marie-Tooth disease, dominant intermediate F
GPD1L Brugada syndrome 2
GYG1 Glycogen storage disease XV
HPS3 Hermansky-Pudlak syndrome 3
HRG Thrombophilia due to histidine-rich glycoprotein deficiency
HYAL1 Mucopolysaccharidosis type IX
IFT80 Short-rib thoracic dysplasia 2 with or without polydactyly
IL17RC Candiasis, familial, 9
IL17RD Hypogonadotropic hypogonadism 18, with or without anosmia
ILDR1 Deafness, autosomal recessive 42
IMPG2 Retinitis pigmentosa 56
IQCB1 Senior-Loken syndrome 5
ITPR1 Spinocerebellar ataxia 15
Spinocerebellar ataxia 29
JAGN1 Neutropenia, severe congenital, 6
KLHL40 Nemaline myopathy 8
KNG1 High molecular weight kininogen deficiency
LAMB2 Pierson syndrome
Nephrotic syndrome, type 5, with or without ocular abnormalities
LARS2 Perrault syndrome 4
LIPH Hypotrichosis 7
LZTFL1 Bardet-Biedl syndrome 17
MASP1 3MC syndrome 1
MCCC1 3-Methylcrotonyl-CoA carboxylase 1 deficiency
MYLK Aortic aneurysm, familial thoracic 7
NBEAL2 Gray platelet syndrome
P2RY12 Bleeding disorder, platelet-type, 8
PBRM1 Clear cell renal cell carcinoma
PDHB Pyruvate dehydrogensae E1-beta deficiency
PLCD1 Nail disorder, nonsyndromic congenital, 3
PLOD2 Bruck syndrome 2
POGLUT1 Dowling-Degos disease 4
POMGNT2 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 8
PRICKLE2 Epilepsy, progessive myoclonic 5
PRKCD Autoimmune lymphoproliferative syndrome type III
PROS1 Thrombophilia, hereditary, due to protein S deficiency
PTH1R Eiken syndrome
Chondrodysplasia, Blomstrand type
Metaphyseal chondrodysplasia, Murk Jansen type
Failure of tooth eruption, primary
RFT1 Congenital disorder of glycosylation, type In
RNF168 RIDDLE syndrome
SCN11A Episodic pain syndrome, familial, 3
Neuropathy, hereditary sensory and autonomic, type VI
SCN5A Atrial fibrillation, familial 10
Long QT syndrome 3
Idiopathic ventricular fibrillation
Heart block, progressive, type IA
Heart block, nonprogressive
Sick sinus syndrome 1, autosomal recessive
Cardiomyopathy, dilated, 1E
Brugada syndrome 1
Ventricular fibrillation, familial 1
SETD2 Luscan-Lumish syndrome
SI Sucrase-isomaltase deficiency, congenital
SLC25A26 Combined oxidative phosphorylation deficiency 28
SLC25A38 Anemia, sideroblastic 2, pyridoxine-refractory
SLC2A2 Fanconi-Bickel syndrome
Glycogen storage disease XI
Neonatal diabetes mellitus
SLC6A20 Iminoglycinuria, digenic
Hyperglycinuria/Iminoglycinuria, modifier of
SLC7A14 Retinitis pigmentosa 68
SLC9A9 Autism susceptibility 16
SLCO2A1 Hypertrophic osteoarthropathy, primary, autosomal recessive 2
Primary hypertrophic osteoarthropathy
SPATA16 Spermatogenic failure 6
SUMF1 Multiple sulfatase deficiency
TDGF1 Forebrain anomalies
Congenital cardiac malformations
TF Atransferrinemia
TFG Hereditary motor and sensory neuropathy, proximal type
Spastic paraplegia 57
TGFBR2 Loeys-Dietz syndrome, type 2B
Loeys-Dietz syndrome, type 1B
THRB Thyroid hormone resistance, general
Thyroid hormone resistance, selective pituitary
TMEM43 Arrhythmogenic right ventricular dysplasia 5
Emery-Dreifuss muscular dystrophy 7
TMIE Deafness, autosomal recessive 6
TNNC1 Cardiomyopathy, familial hypertrophic 13
Cardiomyopathy, dilated, 1Z
TREX1 Chilblain lupus 1
Vasculopathy, retinal, with cerebral leukodystrophy
Aicardi-Goutieres syndrome 1
TRNT1 Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay
UROC1 Urocanase deficiency
WNT7A Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome
Fuhrmann syndrome
XPC Xeroderma pigmentosum, group C

Genes at HGMD

Summary

Number of Variants: 5233
Number of Genes: 570

Export to: CSV

A4GNT
Omim - GeneCards - NCBI
Options Individual Chr
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17-11096s1 germline-multisample gatk annotated 17-11096s1 3 rs2724691
dbSNP Clinvar 		137850003 4242.9 A G . 0/1 180 None None None 0.61402 0.61400 0.35399 None None None None None None A4GNT|0.020635171|73.87%
View 17-11096s1 germline-multisample gatk annotated 17-11096s1 3 rs2246945
dbSNP Clinvar 		137843476 5977.9 G T . 0/1 207 None None None 0.65375 0.65380 0.33946 0.93 0.00 0.02 None None None None None None A4GNT|0.020635171|73.87%
View 17-11096s1 germline-multisample gatk annotated 17-11096s1 3 rs2170309
dbSNP Clinvar 		137843106 4477.9 T C . 0/1 166 None None None 0.65415 0.65420 0.33931 None None None None None None A4GNT|0.020635171|73.87%

AADAC
Omim - GeneCards - NCBI
Options Individual Chr
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17-11096s1 germline-multisample gatk annotated 17-11096s1 3 rs1803155
dbSNP Clinvar 		151545601 24729.3 G A . 1/1 136 None None None 0.73443 0.73440 0.22189 0.04 0.24 4.05 None None None None None None AADAC|0.00221398|90.39%

ABCC5
Omim - GeneCards - NCBI
Options Individual Chr
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17-11096s1 germline-multisample gatk annotated 17-11096s1 3 rs939336
dbSNP Clinvar 		183685534 11289.3 A G . 1/1 66 None None None 0.69169 0.69170 0.37151 None None None None None None ABCC5|0.264803016|30.31%
View 17-11096s1 germline-multisample gatk annotated 17-11096s1 3 rs3749442
dbSNP Clinvar 		183660585 2019.33 G A . 0/1 116 None None None 0.24900 0.24900 0.17080 None None None None None None ABCC5|0.264803016|30.31%
View 17-11096s1 germline-multisample gatk annotated 17-11096s1 3 rs7636910
dbSNP Clinvar 		183699516 12927.9 T C . 0/1 102 None None None 0.33427 0.33430 0.34194 None None None None None None ABCC5|0.264803016|30.31%
View 17-11096s1 germline-multisample gatk annotated 17-11096s1 3 rs1132776
dbSNP Clinvar 		183696402 25476.3 A G . 1/1 150 None None None 0.67652 0.67650 0.38006 None None None None None None ABCC5|0.264803016|30.31%

ABTB1
Omim - GeneCards - NCBI
Options Individual Chr
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17-11096s1 germline-multisample gatk annotated 17-11096s1 3 rs74393644
dbSNP Clinvar 		127396015 7944.94 G C . 0/1 117 None None None 0.00100 0.00100 0.00361 None None None None None None ABTB1|0.075523365|56.17%
View 17-11096s1 germline-multisample gatk annotated 17-11096s1 3 rs141217058
dbSNP Clinvar 		127396358 8580.94 C T . 0/1 127 None None None 0.00080 0.00080 0.00038 None None None None None None ABTB1|0.075523365|56.17%

ACAA1
Omim - GeneCards - NCBI
Options Individual Chr
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17-11096s1 germline-multisample gatk annotated 17-11096s1 3 rs147670996
dbSNP Clinvar 		38178123 6079.9 G C . 0/1 105 None None None 0.00120 0.00120 0.00092 0.29 0.00 1.36 0.19 0.85895 D None None None None ACAA1|0.152807913|42.57%

ACAD11
Omim - GeneCards - NCBI
Options Individual Chr
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17-11096s1 germline-multisample gatk annotated 17-11096s1 3 rs821572
dbSNP Clinvar 		132360883 22833.3 C T . 1/1 133 None None None 1.00000 1.00000 1.00 0.00 1.25 None None None None None None ACAD11|0.064924098|58.66%,NPHP3|0.172447635|40.02%

ACAD9
Omim - GeneCards - NCBI
Options Individual Chr
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17-11096s1 germline-multisample gatk annotated 17-11096s1 3 rs876755
dbSNP Clinvar 		128627933 30972.3 C T . 1/1 226 None None None 0.31030 0.31030 0.23443 None None None None None None ACAD9|0.037542625|66.62%
View 17-11096s1 germline-multisample gatk annotated 17-11096s1 3 rs771599560
dbSNP Clinvar 		128598607 10356.9 G A . 0/1 153 None None None 0.36 0.00 0.63 0.08 0.7314 D None None None None ACAD9|0.037542625|66.62%
View 17-11096s1 germline-multisample gatk annotated 17-11096s1 3 rs1680778
dbSNP Clinvar 		128614185 11470.3 A C . 1/1 71 None None None 0.54333 0.54330 0.45025 None None None None None None ACAD9|0.037542625|66.62%

ACTL6A
Omim - GeneCards - NCBI
Options Individual Chr
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17-11096s1 germline-multisample gatk annotated 17-11096s1 3 rs146107398
dbSNP Clinvar 		179298975 5288.9 A G . 0/1 87 None None None 0.00020 0.00020 0.00015 None None None None None None ACTL6A|0.89447236|3.58%
View 17-11096s1 germline-multisample gatk annotated 17-11096s1 3 rs1132429
dbSNP Clinvar 		179298999 8018.9 C T . 1/1 64 None None None 0.68051 0.68050 0.39751 None None None None None None ACTL6A|0.89447236|3.58%

ACTR8
Omim - GeneCards - NCBI
Options Individual Chr
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17-11096s1 germline-multisample gatk annotated 17-11096s1 3 rs1046677
dbSNP Clinvar 		53905308 12819.9 T C . 0/1 163 None None None 0.69229 0.69230 0.48116 -0.05 None None None None None None ACTR8|0.331819735|25.35%
View 17-11096s1 germline-multisample gatk annotated 17-11096s1 3 rs4687757
dbSNP Clinvar 		53906513 9460.9 G A . 0/1 99 None None None 0.69030 0.69030 0.48293 0.81 None None None None None None ACTR8|0.331819735|25.35%

ADAMTS9
Omim - GeneCards - NCBI
Options Individual Chr
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17-11096s1 germline-multisample gatk annotated 17-11096s1 3 rs36115950
dbSNP Clinvar 		64672474 8185.9 A T . 0/1 151 None None None 0.00120 0.00120 0.09972 0.43 0.01 0.72 None None None None None None ADAMTS9|0.249096385|31.58%

ADCY5
Omim - GeneCards - NCBI
Options Individual Chr
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17-11096s1 germline-multisample gatk annotated 17-11096s1 3 rs4678027
dbSNP Clinvar 		123167249 21111.3 G A . 1/1 108 None None None 0.98662 0.98660 0.00873 None None None None None None ADCY5|0.611756901|11.41%

ADPRH
Omim - GeneCards - NCBI
Options Individual Chr
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17-11096s1 germline-multisample gatk annotated 17-11096s1 3 rs25676
dbSNP Clinvar 		119305379 9725.9 T A . 0/1 172 None None None 0.41234 0.41230 0.32962 None None None None None None ADPRH|0.089216076|53.4%

AGTR1
Omim - GeneCards - NCBI
Options Individual Chr
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17-11096s1 germline-multisample gatk annotated 17-11096s1 3 rs5183
dbSNP Clinvar 		148459884 9993.94 A G . 0/1 128 None None None 0.10683 0.10680 0.12348 None None None None None None AGTR1|0.849419529|4.65%

AHSG
Omim - GeneCards - NCBI
Options Individual Chr
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17-11096s1 germline-multisample gatk annotated 17-11096s1 3 rs4831
dbSNP Clinvar 		186330969 5378.88 C G . 1/1 103 None None None 0.21745 0.21750 0.20637 None None None None None None AHSG|0.045377146|64.1%
View 17-11096s1 germline-multisample gatk annotated 17-11096s1 3 rs1071592
dbSNP Clinvar 		186338425 26553.3 A C . 1/1 136 None None None 0.81470 0.81470 0.22044 None None None None None None AHSG|0.045377146|64.1%
View 17-11096s1 germline-multisample gatk annotated 17-11096s1 3 rs4918
dbSNP Clinvar 		186338382 21810.3 G C . 1/1 110 None None None 0.71366 0.71370 0.34261 0.36 0.00 -1.79 None None None None None None AHSG|0.045377146|64.1%
View 17-11096s1 germline-multisample gatk annotated 17-11096s1 3 rs4917
dbSNP Clinvar 		186337713 14935.3 T C . 1/1 75 None None None 0.73542 0.73540 0.31493 1.00 0.00 -1.94 None None None None None None AHSG|0.045377146|64.1%

ALAS1
Omim - GeneCards - NCBI
Options Individual Chr
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17-11096s1 germline-multisample gatk annotated 17-11096s1 3 rs352168
dbSNP Clinvar 		52237970 5204.9 C T . 0/1 114 None None None 0.39836 0.39840 0.47263 None None None None None None ALAS1|0.153297782|42.48%

ALCAM
Omim - GeneCards - NCBI
Options Individual Chr
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17-11096s1 germline-multisample gatk annotated 17-11096s1 3 rs579565
dbSNP Clinvar 		105260518 3643.9 G A . 0/1 100 None None None 0.23682 0.23680 0.24320 None None None None None None ALCAM|0.549351292|13.76%
View 17-11096s1 germline-multisample gatk annotated 17-11096s1 3 rs599278
dbSNP Clinvar 		105260596 20221.3 T C . 1/1 115 None None None 0.96086 0.96090 0.03814 None None None None None None ALCAM|0.549351292|13.76%

ALDH1L1
Omim - GeneCards - NCBI
Options Individual Chr
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17-11096s1 germline-multisample gatk annotated 17-11096s1 3 rs4646750
dbSNP Clinvar 		125826003 5299.94 T C . 0/1 92 None None None 0.06470 0.06470 0.08934 0.18 0.01 1.13 None None None None None None ALDH1L1|0.039465558|65.93%

ALG1L
Omim - GeneCards - NCBI
Options Individual Chr
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17-11096s1 germline-multisample gatk annotated 17-11096s1 3 rs3811679
dbSNP Clinvar 		125648283 13325.9 A G . 0/1 156 None None None 0.23223 0.23220 0.22438 0.51 0.00 0.23 None None None None None None ALG1L|0.003997673|87.03%
View 17-11096s1 germline-multisample gatk annotated 17-11096s1 3 rs7615952
dbSNP Clinvar 		125649403 11400.9 C A . 0/1 146 None None None 0.23403 0.23400 0.24440 None None None None None None ALG1L|0.003997673|87.03%
View 17-11096s1 germline-multisample gatk annotated 17-11096s1 3 rs3828357
dbSNP Clinvar 		125648356 12200.9 T C . 0/1 217 None None None 0.27716 0.27720 0.32677 0.03 0.16 0.92 None None None None None None ALG1L|0.003997673|87.03%
View 17-11096s1 germline-multisample gatk annotated 17-11096s1 3 rs3187686
dbSNP Clinvar 		125648209 8808.94 C T . 0/1 110 None None None 0.23163 0.23160 0.23949 0.00 0.00 4.38 None None None None None None ALG1L|0.003997673|87.03%
View 17-11096s1 germline-multisample gatk annotated 17-11096s1 3 rs3187711
dbSNP Clinvar 		125648343 15775.9 G A . 0/1 204 None None None 0.23383 0.23380 0.24437 0.66 0.19 1.25 None None None None None None ALG1L|0.003997673|87.03%

ALS2CL
Omim - GeneCards - NCBI
Options Individual Chr
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17-11096s1 germline-multisample gatk annotated 17-11096s1 3 rs13080080
dbSNP Clinvar 		46722692 19755.3 G T . 1/1 101 None None None 0.64876 0.64880 0.36123 None None None None None None ALS2CL|0.023531697|72.41%
View 17-11096s1 germline-multisample gatk annotated 17-11096s1 3 rs7642448
dbSNP Clinvar 		46729757 10837.9 C G . 0/1 104 None None None 0.44848 0.44850 0.42134 0.19 0.69 2.63 None None None None None None ALS2CL|0.023531697|72.41%
View 17-11096s1 germline-multisample gatk annotated 17-11096s1 3 rs7625303
dbSNP Clinvar 		46713457 19151.9 C G . 0/1 233 None None None 0.25040 0.25040 0.19768 None None None None None None ALS2CL|0.023531697|72.41%
View 17-11096s1 germline-multisample gatk annotated 17-11096s1 3 rs4683310
dbSNP Clinvar 		46723551 5722.9 G A . 0/1 111 None None None 0.31310 0.31310 0.34115 None None None None None None ALS2CL|0.023531697|72.41%

AMIGO3
Omim - GeneCards - NCBI
Options Individual Chr
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17-11096s1 germline-multisample gatk annotated 17-11096s1 3 rs768721294
dbSNP Clinvar 		49756230 11250.9 G T . 0/1 209 None None None 9.23 None None None None None None RNF123|0.227645905|33.58%,AMIGO3|0.025035326|71.77%,GMPPB|0.248151066|31.69%

AMOTL2
Omim - GeneCards - NCBI
Options Individual Chr
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17-11096s1 germline-multisample gatk annotated 17-11096s1 3 rs1353776
dbSNP Clinvar 		134077470 22887.3 C G . 1/1 142 None None None 0.00080 0.00080 0.26918 1.00 0.00 -2.16 None None None None None None AMOTL2|0.079628393|55.26%

AMT
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17-11096s1 germline-multisample gatk annotated 17-11096s1 3 rs11715915
dbSNP Clinvar 		49455330 38095.4 C T . 1/1 228 None None None 0.20128 0.20130 0.28894 2.42 None None None None None None AMT|0.121814871|47.17%

ANKRD28
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17-11096s1 germline-multisample gatk annotated 17-11096s1 3 rs2470549
dbSNP Clinvar 		15737698 18063.3 T C . 1/1 76 None None None 0.41294 0.41290 0.47133 None None None None None None ANKRD28|0.433008795|19.04%
View 17-11096s1 germline-multisample gatk annotated 17-11096s1 3 rs2470548
dbSNP Clinvar 		15737689 18183.3 G A . 1/1 80 None None None 0.46925 0.46920 0.45701 None None None None None None ANKRD28|0.433008795|19.04%

ANKUB1
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17-11096s1 germline-multisample gatk annotated 17-11096s1 3 rs7610425
dbSNP Clinvar 		149485293 21883.9 T C . 1/1 223 None None None 0.26478 0.26480 0.33969 0.31 0.00 -0.87 None None None None None None ANKUB1|0.042457252|64.97%
View 17-11096s1 germline-multisample gatk annotated 17-11096s1 3 rs954714
dbSNP Clinvar 		149479301 9984.9 C T . 1/1 92 None None None 0.52057 0.52060 None None None None None None ANKUB1|0.042457252|64.97%

ANO10
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17-11096s1 germline-multisample gatk annotated 17-11096s1 3 rs3772165
dbSNP Clinvar 		43602803 23005.3 C T . 1/1 152 None None None 0.66314 0.66310 0.44310 0.54 0.00 1.71 None None rs3772165 3 not_specified None ANO10|0.098739999|51.41%
View 17-11096s1 germline-multisample gatk annotated 17-11096s1 3 rs6441771
dbSNP Clinvar 		43414318 12806.3 A G . 1/1 86 None None None 0.98143 0.98140 0.33 0.00 -0.32 None None None None None None SNRK|0.096657733|51.77%,ANO10|0.098739999|51.41%

AP2M1
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17-11096s1 germline-multisample gatk annotated 17-11096s1 3 rs843365
dbSNP Clinvar 		183900729 608.33 T C . 0/1 41 None None None 0.52875 0.52880 0.50 0.00 0.06 None None None None None None EIF2B5|0.736636231|7.47%,AP2M1|0.714763661|8.13%

APEH
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17-11096s1 germline-multisample gatk annotated 17-11096s1 3 rs1131095
dbSNP Clinvar 		49714225 22713.3 T C . 1/1 115 None None None 0.20268 0.20270 0.28287 None None None None None None APEH|0.758566241|6.88%

ARGFX
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17-11096s1 germline-multisample gatk annotated 17-11096s1 3 rs9813391
dbSNP Clinvar 		121304933 11271.9 G A . 0/1 175 None None None 0.17113 0.17110 0.22943 0.77 0.00 -0.27 None None None None None None ARGFX|0.001850633|91.41%

ARHGAP31
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17-11096s1 germline-multisample gatk annotated 17-11096s1 3 rs3732413
dbSNP Clinvar 		119133183 33122.4 G A . 1/1 175 None None None 0.84565 0.84560 0.16839 1.00 0.00 -0.66 None None None None None None ARHGAP31|0.196163887|37.14%
View 17-11096s1 germline-multisample gatk annotated 17-11096s1 3 rs4688001
dbSNP Clinvar 		119118104 9312.35 A G . 1/1 53 None None None 1.00000 1.00000 None None None None None None ARHGAP31|0.196163887|37.14%
View 17-11096s1 germline-multisample gatk annotated 17-11096s1 3 rs886043830
dbSNP Clinvar 		119134994 14641.9 G C . 0/1 190 None None None 0.00 0.92 5.27 0.02 0.46543 T None None None None ARHGAP31|0.196163887|37.14%

ARHGEF26
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17-11096s1 germline-multisample gatk annotated 17-11096s1 3 rs12497267
dbSNP Clinvar 		153839960 44913.4 T C . 1/1 208 None None None 0.94968 0.94970 0.15953 0.71 0.00 0.01 None None None None None None ARHGEF26|0.061409989|59.47%
View 17-11096s1 germline-multisample gatk annotated 17-11096s1 3 rs59508481
dbSNP Clinvar 		153839959 35831.9 C T . 0/1 208 None None None 0.61801 0.61800 0.02696 0.13 0.00 0.64 None None None None None None ARHGEF26|0.061409989|59.47%
View 17-11096s1 germline-multisample gatk annotated 17-11096s1 3 rs12493885
dbSNP Clinvar 		153839866 38501.4 G C . 1/1 174 None None None 0.95927 0.95930 0.10090 1.00 0.00 0.73 None None None None None None ARHGEF26|0.061409989|59.47%
View 17-11096s1 germline-multisample gatk annotated 17-11096s1 3 rs13096373
dbSNP Clinvar 		153840389 7133.9 T C . 0/1 217 None None None 0.32428 0.32430 0.20365 1.00 0.00 0.12 None None None None None None ARHGEF26|0.061409989|59.47%

ARHGEF3
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17-11096s1 germline-multisample gatk annotated 17-11096s1 3 rs1009118
dbSNP Clinvar 		56763525 12109.9 A G . 0/1 209 None None None 0.26697 0.26700 0.18484 None None None None None None ARHGEF3|0.535419787|14.4%
View 17-11096s1 germline-multisample gatk annotated 17-11096s1 3 rs6765444
dbSNP Clinvar 		56763619 8934.9 A G . 0/1 152 None None None 0.26697 0.26700 0.18476 None None None None None None ARHGEF3|0.535419787|14.4%
View 17-11096s1 germline-multisample gatk annotated 17-11096s1 3 rs1565376
dbSNP Clinvar 		56763316 18542.9 G A . 0/1 174 None None None 0.73023 0.73020 0.44410 None None None None None None ARHGEF3|0.535419787|14.4%
View 17-11096s1 germline-multisample gatk annotated 17-11096s1 3 rs3732511
dbSNP Clinvar 		56766435 7269.9 C G . 0/1 120 None None None 0.25659 0.25660 0.15470 None None None None None None ARHGEF3|0.535419787|14.4%
View 17-11096s1 germline-multisample gatk annotated 17-11096s1 3 rs372668985
dbSNP Clinvar 		56835961 7519.9 C T . 0/1 106 None None None 0.00739 0.00739 0.00 None None None None None None ARHGEF3|0.535419787|14.4%
View 17-11096s1 germline-multisample gatk annotated 17-11096s1 3 rs1565377
dbSNP Clinvar 		56763328 19767.9 T C . 0/1 176 None None None 0.72844 0.72840 0.44687 None None None None None None ARHGEF3|0.535419787|14.4%

ARL14
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17-11096s1 germline-multisample gatk annotated 17-11096s1 3 rs34154432
dbSNP Clinvar 		160395392 14171.9 G A . 0/1 197 None None None 0.01018 0.01018 0.00946 None None None None None None ARL14|0.014246915|77.68%

ARL8B
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17-11096s1 germline-multisample gatk annotated 17-11096s1 3 rs7626677
dbSNP Clinvar 		5164135 28045.3 G C . 1/1 164 None None None 0.04912 0.04912 0.04415 0.07 0.00 None None None None None None ARL8B|0.41178728|20.06%

ARPP21
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17-11096s1 germline-multisample gatk annotated 17-11096s1 3 rs969818
dbSNP Clinvar 		35725250 17885.3 C T . 1/1 104 None None None 0.71985 0.71980 0.28737 None None None None None None ARPP21|0.628941513|10.81%
View 17-11096s1 germline-multisample gatk annotated 17-11096s1 3 rs2012153
dbSNP Clinvar 		35779750 8068.9 A G . 1/1 84 None None None 0.35883 0.35880 None None None None None None ARPP21|0.628941513|10.81%
View 17-11096s1 germline-multisample gatk annotated 17-11096s1 3 rs2278757
dbSNP Clinvar 		35778773 17609.9 A G . 1/1 159 None None None 0.40815 0.40810 0.49338 None None None None None None ARPP21|0.628941513|10.81%

ATG3
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17-11096s1 germline-multisample gatk annotated 17-11096s1 3 rs35560667,rs570214747,rs397767079
dbSNP Clinvar 		112253058 6682.9 C CA . 0/1 128 None None None 0.58390 None None None None None None ATG3|0.504506892|15.59%
View 17-11096s1 germline-multisample gatk annotated 17-11096s1 3 rs2969896
dbSNP Clinvar 		112256630 6328.94 A G . 0/1 79 None None None 0.21066 0.21070 0.16254 None None None None None None ATG3|0.504506892|15.59%

ATG7
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17-11096s1 germline-multisample gatk annotated 17-11096s1 3 rs8154
dbSNP Clinvar 		11596302 4247.94 T C . 0/1 58 None None None 0.25459 0.25460 0.32239 None None None None None None ATG7|0.493408428|16.17%

ATP11B
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17-11096s1 germline-multisample gatk annotated 17-11096s1 3 rs11925959
dbSNP Clinvar 		182631792 11727.9 C A . 0/1 221 None None None 0.35244 0.35240 0.26496 1.82 None None None None None None ATP11B|0.419706725|19.59%

ATP13A4
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17-11096s1 germline-multisample gatk annotated 17-11096s1 3 rs138509256
dbSNP Clinvar 		193185128 10951.9 A G . 1/1 108 None None None 0.00399 0.00399 0.01469 0.17 0.12 1.02 None None None None None None ATP13A4|0.189604914|37.86%
View 17-11096s1 germline-multisample gatk annotated 17-11096s1 3 rs3796181
dbSNP Clinvar 		193183817 7819.9 A G . 1/1 83 None None None 0.55411 0.55410 0.48954 None None None None None None ATP13A4|0.189604914|37.86%
View 17-11096s1 germline-multisample gatk annotated 17-11096s1 3 rs6788448
dbSNP Clinvar 		193209178 3341.9 T C . 1/1 31 None None None 0.47145 0.47140 0.44180 0.04 0.99 4.02 None None None None None None ATP13A4|0.189604914|37.86%
View 17-11096s1 germline-multisample gatk annotated 17-11096s1 3 rs2130407
dbSNP Clinvar 		193210768 6344.9 A G . 1/1 54 None None None 0.52736 0.52740 0.47970 None None None None None None ATP13A4|0.189604914|37.86%

ATP13A5
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17-11096s1 germline-multisample gatk annotated 17-11096s1 3 rs6797429
dbSNP Clinvar 		193080414 17111.3 C G . 1/1 85 None None None 0.51378 0.51380 0.44895 1.00 0.00 0.15 None None None None None None ATP13A5|0.051025682|62.36%
View 17-11096s1 germline-multisample gatk annotated 17-11096s1 3 rs61748338
dbSNP Clinvar 		193023446 10987.9 C T . 0/1 93 None None None 0.04093 0.04093 0.04406 None None None None None None ATP13A5|0.051025682|62.36%
View 17-11096s1 germline-multisample gatk annotated 17-11096s1 3 rs6788770
dbSNP Clinvar 		193036794 11442.3 G C . 1/1 59 None None None 0.89597 0.89600 0.15124 None None None None None None ATP13A5|0.051025682|62.36%
View 17-11096s1 germline-multisample gatk annotated 17-11096s1 3 rs61753889
dbSNP Clinvar 		193039597 3658.9 G A . 0/1 121 None None None 0.06709 0.06709 0.06789 None None None None None None ATP13A5|0.051025682|62.36%
View 17-11096s1 germline-multisample gatk annotated 17-11096s1 3 rs11926955
dbSNP Clinvar 		193042776 18684.3 T C . 1/1 106 None None None 0.89537 0.89540 0.15178 None None None None None None ATP13A5|0.051025682|62.36%

ATP2B2
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17-11096s1 germline-multisample gatk annotated 17-11096s1 3 rs35678
dbSNP Clinvar 		10379923 26865.3 C T . 1/1 156 None None None 0.56789 0.56790 0.45633 None None None None None None ATP2B2|0.393540983|21.16%
View 17-11096s1 germline-multisample gatk annotated 17-11096s1 3 rs751122
dbSNP Clinvar 		10420087 20873.3 T C . 1/1 130 None None None 0.49321 0.49320 0.36099 None None None None None None ATP2B2|0.393540983|21.16%

ATR
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17-11096s1 germline-multisample gatk annotated 17-11096s1 3 rs2227931
dbSNP Clinvar 		142222284 523.33 A G . 0/1 47 None None None 0.31250 0.31250 0.34957 None None None None None None ATR|0.696057424|8.61%
View 17-11096s1 germline-multisample gatk annotated 17-11096s1 3 rs1802904
dbSNP Clinvar 		142168331 14784.3 C T . 1/1 69 None None None 0.91633 0.91630 0.10218 None None None None None None ATR|0.696057424|8.61%
View 17-11096s1 germline-multisample gatk annotated 17-11096s1 3 rs2227928
dbSNP Clinvar 		142281612 29255.3 A G . 1/1 169 None None None 0.59744 0.59740 0.33769 0.63 0.00 -0.11 None None rs2227928 2 not_specified None ATR|0.696057424|8.61%
View 17-11096s1 germline-multisample gatk annotated 17-11096s1 3 rs2227930
dbSNP Clinvar 		142277575 13827.3 A T . 1/1 78 None None None 0.59804 0.59800 0.33700 None None None None None None ATR|0.696057424|8.61%
View 17-11096s1 germline-multisample gatk annotated 17-11096s1 3 rs2227929
dbSNP Clinvar 		142277536 1076.33 A G . 0/1 71 None None None 0.31070 0.31070 0.34576 None None None None None None ATR|0.696057424|8.61%

B4GALT4
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17-11096s1 germline-multisample gatk annotated 17-11096s1 3 rs3764779
dbSNP Clinvar 		118945796 9961.9 G C . 0/1 121 None None None 0.29693 0.29690 0.27157 0.78 0.00 -1.20 None None None None None None B4GALT4|0.059766507|59.94%

BCL6
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17-11096s1 germline-multisample gatk annotated 17-11096s1 3 rs2229362
dbSNP Clinvar 		187446211 4064.88 C T . 1/1 87 None None None 0.18510 0.18510 0.23774 0.29 0.00 0.37 None None None None None None BCL6|0.913517921|3.15%

BFSP2
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17-11096s1 germline-multisample gatk annotated 17-11096s1 3 rs2276737
dbSNP Clinvar 		133167363 28440.3 G A . 1/1 162 None None None 0.43650 0.43650 0.46402 None None None None None None BFSP2|0.103322772|50.53%

BHLHE40
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17-11096s1 germline-multisample gatk annotated 17-11096s1 3 rs908078
dbSNP Clinvar 		5024771 26528.3 T C . 1/1 164 None None None 0.15795 0.15790 0.13240 None None None None None None BHLHE40|0.430176201|19.13%

BOC
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17-11096s1 germline-multisample gatk annotated 17-11096s1 3 rs2650100
dbSNP Clinvar 		112998268 4373.9 G A . 0/1 101 None None None 0.18051 0.18050 0.22182 None None None None None None BOC|0.066912228|58.17%
View 17-11096s1 germline-multisample gatk annotated 17-11096s1 3 rs775228
dbSNP Clinvar 		112997554 15620.3 A G . 1/1 106 None None None 0.62041 0.62040 0.45240 None None None None None None BOC|0.066912228|58.17%
View 17-11096s1 germline-multisample gatk annotated 17-11096s1 3 rs13094203
dbSNP Clinvar 		112993367 5615.9 G A . 0/1 129 None None None 0.12999 0.13000 0.16380 None None None None None None BOC|0.066912228|58.17%
View 17-11096s1 germline-multisample gatk annotated 17-11096s1 3 rs9819129
dbSNP Clinvar 		112989763 4829.9 C T . 0/1 108 None None None 0.02256 0.02256 0.02891 None None None None None None BOC|0.066912228|58.17%
View 17-11096s1 germline-multisample gatk annotated 17-11096s1 3 rs59291757
dbSNP Clinvar 		113003234 8399.94 G A . 0/1 127 None None None 0.00419 0.00419 0.00631 None None None None None None BOC|0.066912228|58.17%
View 17-11096s1 germline-multisample gatk annotated 17-11096s1 3 rs2649878
dbSNP Clinvar 		112998265 18719.3 A G . 1/1 98 None None None 0.55871 0.55870 0.46171 None None None None None None BOC|0.066912228|58.17%