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+ Genes 360

Genes:
A4GNT, AADAC, AADACL2, ABCC5, ABCF3, ABI3BP, AC022498.1, ACAD9, ACOX2, ACPL2, ACTL6A, ACVR2B, ADAMTS9, ADCY5, ADIPOQ, AGTR1, AHSG, ALAS1, ALCAM, ALG1L, AMOTL2, AMT, ANO10, AP2M1, APEH, ARHGAP31, ARHGEF26, ARPP21, ATG7, ATP13A4, ATP13A5, ATP2B2, ATP6V1A, ATR, ATRIP, ATXN7, B3GALNT1, B3GNT5, BCHE, BDH1, BHLHE40, BSN, BTD, BTLA, C3orf20, CACNA1D, CACNA2D3, CADPS, CAND2, CASR, CAV3, CBLB, CCDC12, CCDC14, CCDC39, CCDC66, CCDC71, CCR4, CCR8, CD86, CD96, CDC25A, CELSR3, CEP97, CHDH, CHL1, CHMP2B, CIDEC, CLASP2, CLCN2, CLDN1, CLSTN2, CNBP, CNOT10, CNTN4, COL6A5, COL7A1, CP, CPOX, CRELD1, CRYBG3, CRYGS, CSPG5, CSTA, CX3CR1, DAG1, DBR1, DCLK3, DENND6A, DHX30, DHX36, DLEC1, DNAH1, DNAJB11, DNAJB8, DNAJC13, DRD3, DVL3, DZIP1L, EBLN2, ECE2, EDEM1, EEFSEC, EFHB, EIF2B5, EIF4G1, ENTPD3, EPHA3, EPHB3, EPM2AIP1, ETV5, FAM188B2, FAM198A, FANCD2, FBLN2, FBXO40, FBXW12, FETUB, FGD5, FLNB, FRG2C, FXR1, FYCO1, GADL1, GATA2, GBE1, GFM1, GHSR, GLB1, GMPPB, GOLGB1, GPR156, GPX1, GRK7, GRM2, GRM7, HCLS1, HGD, HHATL, HLTF, HRASLS, HRG, HTR3C, HTR3D, HTR3E, HYAL2, HYAL3, IFT80, IGF2BP2, IGSF10, IL17RD, IL17RE, ILDR1, IMPG2, IP6K2, IQCB1, IQCF3, IRAK2, ITGA9, ITIH1, ITIH3, ITIH4, ITPR1, KALRN, KCNAB1, KCNMB3, KIAA0226, KIAA2018, KLHL24, KLHL40, KNG1, KPNA1, KY, LARS2, LEPREL1, LINC00696, LIPH, LMLN, LNP1, LPP, LRCH3, LRIG1, LRRC15, LRRC2, LRRIQ4, LSG1, LTF, MAP4, MASP1, MB21D2, MBNL1, MCCC1, MCF2L2, MCM2, MECOM, MFI2, MME, MON1A, MST1, MST1R, MUC13, MUC20, MUC4, MYH15, MYLK, NAALADL2, NAT6, NBEAL2, NCKIPSD, NFKBIZ, NISCH, NMD3, NR1I2, NT5DC2, NUP210, OPA1, OR5AC2, OXSR1, OXTR, P2RY12, PAK2, PARL, PARP14, PARP9, PCYT1A, PDCD6IP, PDE12, PDHB, PDZRN3, PIGZ, PIK3CA, PIK3R4, PLCD1, PLCH1, PLD1, PLS1, PLXNA1, PLXNB1, PLXND1, POGLUT1, POLQ, POMGNT2, POPDC2, PPARG, PPM1M, PPP4R2, PRICKLE2, PRKCD, PRKCI, PROS1, PRR23C, PRRT3, PRSS45, PSMD6, PTH1R, PTPLB, PTPN23, PYDC2, QRICH1, RAB7A, RABL3, RAD54L2, RASSF1, RBM6, RFT1, RFTN1, RNF123, RNF168, ROBO1, RP11-159G9.5, RP11-3B7.1, RP11-434D12.1, RPL14, RPL24, RPUSD3, RTP4, RYBP, RYK, SACM1L, SATB1, SCAP, SCN10A, SCN11A, SCN5A, SEMA3G, SEMA5B, SERPINI2, SETD2, SHISA5, SI, SLC22A14, SLC25A38, SLC26A6, SLC2A2, SLC35G2, SLC4A7, SLC6A1, SLC6A11, SLC6A20, SLC6A6, SLC9A9, SLCO2A1, SRGAP3, SSUH2, STAB1, SUCLG2, SUSD5, TDGF1, TEX264, TF, TFRC, THOC7, THRB, TKT, TLR9, TM4SF19, TMCC1, TMEM108, TMPRSS7, TNFSF10, TNIK, TOP2B, TOPBP1, TPRA1, TRAIP, TRAK1, TRANK1, TREX1, TRH, TRIM42, TTC21A, TTLL3, TXNRD3, U2SURP, UBA7, UBP1, UROC1, USP13, VGLL3, VILL, VPS8, WDR49, WDR52, XIRP1, XPC, XRN1, YEATS2, ZBBX, ZBED2, ZBTB38, ZDHHC19, ZFYVE20, ZIC4, ZNF148, ZNF385D, ZNF445, ZNF619, ZNF639, ZNF717, ZXDC,

+ Genes associated with diseases 117

Genes at Omim

ACAD9, ACOX2, ACVR2B, ADCY5, ADIPOQ, AGTR1, AHSG, AMT, ANO10, ARHGAP31, ATP2B2, ATP6V1A, ATR, ATXN7, BCHE, BTD, CACNA1D, CASR, CAV3, CCDC39, CD96, CHMP2B, CIDEC, CLCN2, CLDN1, CNBP, COL7A1, CP, CPOX, CRELD1, CRYGS, CSTA, CX3CR1, DAG1, DHX30, DNAH1, DNAJB11, DRD3, DVL3, DZIP1L, EIF2B5, EIF4G1, FANCD2, FLNB, FYCO1, GATA2, GBE1, GFM1, GHSR, GLB1, GMPPB, GPX1, HGD, HRG, IFT80, IGF2BP2, IL17RD, ILDR1, IMPG2, IQCB1, ITIH4, ITPR1, KALRN, KLHL24, KLHL40, KNG1, KY, LARS2, LIPH, LPP, MASP1, MCCC1, MCM2, MECOM, MME, MST1R, MYLK, NBEAL2, OPA1, P2RY12, PCYT1A, PDHB, PIK3CA, PLCD1, PLD1, POGLUT1, POMGNT2, PPARG, PRKCD, PROS1, QRICH1, RFT1, RNF168, SCN10A, SCN11A, SCN5A, SETD2, SI, SLC25A38, SLC2A2, SLC6A1, SLC6A20, SLC9A9, SLCO2A1, TDGF1, TF, TFRC, THRB, TKT, TNIK, TRAIP, TRAK1, TREX1, TRH, UROC1, XPC, ZNF148,
ACAD9 Mitochondrial complex I deficiency, nuclear type 20, 611126 (3)
ACOX2 Bile acid synthesis defect, congenital, 6, 617308 (3)
ACVR2B Heterotaxy, visceral, 4, autosomal, 613751 (3)
ADCY5 Dyskinesia, familial, with facial myokymia, 606703 (3)
ADIPOQ Adiponectin deficiency, 612556 (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)
ATP6V1A Cutis laxa, autosomal recessive, type IID, 617403 (3)
Epileptic encephalopathy, infantile or early childhood, 3, 618012 (3)
ATR ?Cutaneous telangiectasia and cancer syndrome, familial, 614564 (3)
Seckel syndrome 1, 210600 (3)
ATXN7 Spinocerebellar ataxia 7, 164500 (3)
BCHE Butyrylcholinesterase deficiency, 617936 (3)
{Apnea, postanesthetic, susceptibility to, due to BCHE deficiency}, 617936 (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)
CD96 C syndrome, 211750 (3)
CHMP2B Amyotrophic lateral sclerosis 17, 614696 (3)
Dementia, familial, nonspecific, 600795 (3)
CIDEC ?Lipodystrophy, familial partial, type 5, 615238 (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)
CRYGS Cataract 20, multiple types, 116100 (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)
DHX30 Neurodevelopmental disorder with severe motor impairment and absent language, 617804 (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)
DRD3 {Essential tremor, hereditary, 1}, 190300 (3)
{Schizophrenia, susceptibility to}, 181500 (3)
DVL3 Robinow syndrome, autosomal dominant 3, 616894 (3)
DZIP1L Polycystic kidney disease 5, 617610 (3)
EIF2B5 Leukoencephalopathy with vanishing white matter, 603896 (3)
Ovarioleukodystrophy, 603896 (3)
EIF4G1 {Parkinson disease 18}, 614251 (3)
FANCD2 Fanconi anemia, complementation group D2, 227646 (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)
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)
GHSR Growth hormone deficiency, isolated partial, 615925 (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)
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)
GPX1 Hemolytic anemia due to glutathione peroxidase deficiency, 614164 (1)
HGD Alkaptonuria, 203500 (3)
HRG Thrombophilia due to HRG deficiency, 613116 (3)
Thrombophilia due to elevated HRG, 613116 (1)
IFT80 Short-rib thoracic dysplasia 2 with or without polydactyly, 611263 (3)
IGF2BP2 {Diabetes mellitus, noninsulin-dependent, susceptibility to}, 125853 (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)
KALRN {Coronary heart disease, susceptibility to, 5}, 608901 (3)
KLHL24 Epidermolysis bullosa simplex, generalized, with scarring and hair loss, 617294 (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)
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)
MASP1 3MC syndrome 1, 257920 (3)
MCCC1 3-Methylcrotonyl-CoA carboxylase 1 deficiency, 210200 (3)
MCM2 ?Deafness, autosomal dominant 70, 616968 (3)
MECOM Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, 616738 (3)
MME Charcot-Marie-Tooth disease, axonal, type 2T, 617017 (3)
?Spinocerebellar ataxia 43, 617018 (3)
MST1R {Nasopharyngeal carcinoma, susceptibility to, 3}, 617075 (3)
MYLK Aortic aneurysm, familial thoracic 7, 613780 (3)
NBEAL2 Gray platelet syndrome, 139090 (3)
OPA1 {Glaucoma, normal tension, susceptibility to}, 606657 (3)
Behr syndrome, 210000 (3)
Optic atrophy 1, 165500 (3)
Optic atrophy plus syndrome, 125250 (3)
?Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type), 616896 (3)
P2RY12 Bleeding disorder, platelet-type, 8, 609821 (3)
PCYT1A Spondylometaphyseal dysplasia with cone-rod dystrophy, 608940 (3)
PDHB Pyruvate dehydrogenase E1-beta deficiency, 614111 (3)
PIK3CA CLAPO syndrome, somatic, 613089 (3)
CLOVE syndrome, somatic, 612918 (3)
Gastric cancer, somatic, 613659 (3)
Breast cancer, somatic, 114480 (3)
Hepatocellular carcinoma, somatic, 114550 (3)
Colorectal cancer, somatic, 114500 (3)
Cowden syndrome 5, 615108 (3)
Keratosis, seborrheic, somatic, 182000 (3)
Macrodactyly, somatic, 155500 (3)
Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic, 602501 (3)
Nevus, epidermal, somatic, 162900 (3)
Nonsmall cell lung cancer, somatic, 211980 (3)
Ovarian cancer, somatic, 167000 (3)
PLCD1 Nail disorder, nonsyndromic congenital, 3, (leukonychia), 151600 (3)
PLD1 Cardiac valvular defect, developmental, 212093 (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)
PPARG Carotid intimal medial thickness 1, 609338 (3)
Lipodystrophy, familial partial, type 3, 604367 (3)
Insulin resistance, severe, digenic, 604367 (3)
Obesity, severe, 601665 (3)
[Obesity, resistance to] (3)
{Diabetes, type 2}, 125853 (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)
QRICH1 Ververi-Brady syndrome, 617982 (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)
SLC25A38 Anemia, sideroblastic, 2, pyridoxine-refractory, 205950 (3)
SLC2A2 Fanconi-Bickel syndrome, 227810 (3)
{Diabetes mellitus, noninsulin-dependent}, 125853 (3)
SLC6A1 Myoclonic-atonic epilepsy, 616421 (3)
SLC6A20 Hyperglycinuria, 138500 (3)
Iminoglycinuria, digenic, 242600 (3)
SLC9A9 {?Autism susceptibility 16}, 613410 (3)
SLCO2A1 Hypertrophic osteoarthropathy, primary, autosomal recessive 2, 614441 (3)
TDGF1 Forebrain defects (3)
TF Atransferrinemia, 209300 (3)
TFRC Immunodeficiency 46, 616740 (3)
THRB Thyroid hormone resistance, 188570 (3)
Thyroid hormone resistance, autosomal recessive, 274300 (3)
Thyroid hormone resistance, selective pituitary, 145650 (3)
TKT Short stature, developmental delay, and congenital heart defects, 617044 (3)
TNIK Mental retardation, autosomal recessive 54, 617028 (3)
TRAIP Seckel syndrome 9, 616777 (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)
UROC1 ?Urocanase deficiency, 276880 (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, ACVR2B, ADCY5, AGTR1, AMT, ANO10, ARHGAP31, ATR, ATXN7, B3GALNT1, BCHE, BTD, CACNA1D, CASR, CAV3, CCDC14, CCDC39, CD96, CHMP2B, CIDEC, CLCN2, CLDN1, CNBP, COL7A1, CP, CPOX, CRELD1, CRYGS, CSTA, DAG1, DNAH1, DNAJC13, DVL3, EIF2B5, EIF4G1, FANCD2, FLNB, FYCO1, GATA2, GBE1, GFM1, GHSR, GLB1, GMPPB, HGD, HRG, IFT80, IL17RD, ILDR1, IMPG2, IQCB1, ITPR1, KLHL40, KNG1, LARS2, LIPH, MASP1, MCCC1, MECOM, MYLK, NBEAL2, OPA1, P2RY12, PCYT1A, PDHB, PIK3CA, PLCD1, POGLUT1, POMGNT2, PPARG, PRICKLE2, PRKCD, PROS1, PTH1R, RAB7A, RFT1, RNF168, SCN11A, SCN5A, SETD2, SI, SLC25A38, SLC2A2, SLC6A20, SLC9A9, SLCO2A1, TDGF1, TF, TFRC, THRB, TRAIP, TREX1, UROC1, XPC,
ACAD9 Acyl-CoA dehydrogenase family, member 9, deficiency of
ACVR2B Heterotaxy, visceral, 4, autosomal
ADCY5 Dyskinesia, familial, with facial myokymia
AGTR1 Renal tubular dysgenesis
AMT Glycine encephalopathy
ANO10 Spinocerebellar ataxia, autosomal recessive 10
ARHGAP31 Adams-Oliver syndrome 1
ATR Cutaneous telangiectasia and cancer syndrome, familial
Seckel syndrome 1
ATXN7 Spinocerebellar ataxia 7
B3GALNT1 Blood group, P system
BCHE Butyrlcholinesterase deficiency
BTD Biotinidase deficiency
CACNA1D Primary aldosteronism, seizures, and neurologic abnormalities
Sinoatrial node dysfunction and deafness
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
CD96 C syndrome( Opitz Trigonocephaly syndrome)
CHMP2B Amyotrophic lateral sclerosis, CHMP2B-related
Dementia, familial, nonspecific
Frontotemporal dementia, chromosome 3-linked
CIDEC Lipodystrophy, familial partial, type 5
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
CRYGS Cataract, progressive polymorphic cortical
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
DVL3 Robinow syndrome, autosomal dominant 3
EIF2B5 Leukoencephalopathy with vanishing white matter
Ovarioleukodystrophy
EIF4G1 Parkinson disease 18
Macular dystrophy with central cone involvement
FANCD2 Fanconi anemia, complementation group D2
FLNB Larsen syndrome
Spondylocarpotarsal synostosis syndrome
Boomerang dysplasia
Atelosteogenesis, type I
Atelosteogenesis, type III
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
GHSR Short stature
GLB1 Mucopolysaccharidosis type IVB (Morquio syndrome B)
GM1-gangliosidosis, type I
GM1-gangliosidosis, type II
GM1-gangliosidosis, type III
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
HGD Alkaptonuria
HRG Thrombophilia due to histidine-rich glycoprotein deficiency
IFT80 Short-rib thoracic dysplasia 2 with or without polydactyly
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
KLHL40 Nemaline myopathy 8
KNG1 High molecular weight kininogen deficiency
LARS2 Perrault syndrome 4
LIPH Hypotrichosis 7
MASP1 3MC syndrome 1
MCCC1 3-Methylcrotonyl-CoA carboxylase 1 deficiency
MECOM Radioulnar synostosis with amegakaryocytic thrombocytopenia 2
MYLK Aortic aneurysm, familial thoracic 7
NBEAL2 Gray platelet syndrome
OPA1 Glaucoma, normal tension, susceptibility to
P2RY12 Bleeding disorder, platelet-type, 8
PCYT1A Spondylometaphyseal dysplasia with cone-rod dystrophy
PDHB Pyruvate dehydrogensae E1-beta deficiency
PIK3CA Cowden syndrome 5
PLCD1 Nail disorder, nonsyndromic congenital, 3
POGLUT1 Dowling-Degos disease 4
POMGNT2 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 8
PPARG Lipodystrophy, familial, partial, type 3
Insulin resistance, severe, digenic
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
RAB7A Charcot-Marie-Tooth disease, axonal, type 2B
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
SLC25A38 Anemia, sideroblastic 2, pyridoxine-refractory
SLC2A2 Fanconi-Bickel syndrome
Glycogen storage disease XI
Neonatal diabetes mellitus
SLC6A20 Iminoglycinuria, digenic
Hyperglycinuria/Iminoglycinuria, modifier of
SLC9A9 Autism susceptibility 16
SLCO2A1 Hypertrophic osteoarthropathy, primary, autosomal recessive 2
Primary hypertrophic osteoarthropathy
TDGF1 Forebrain anomalies
Congenital cardiac malformations
TF Atransferrinemia
TFRC Immunodeficiency 46
THRB Thyroid hormone resistance, general
Thyroid hormone resistance, selective pituitary
TRAIP Seckel syndrome 9
TREX1 Chilblain lupus 1
Vasculopathy, retinal, with cerebral leukodystrophy
Aicardi-Goutieres syndrome 1
UROC1 Urocanase deficiency
XPC Xeroderma pigmentosum, group C

Genes at HGMD

Summary

Number of Variants: 1419
Number of Genes: 360

Export to: CSV

GPX1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 16hpc01701_s1 genome 3 rs17838762,rs56041243
dbSNP Clinvar 		49395673 7348.07 GG... G,... PASS 1/2 126 CODON_DELETION MODERATE None 0.42721 None None None None None None GPX1|0.756845833|6.93%
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 16hpc01701_s1 genome 3 rs749879865,rs60744648
dbSNP Clinvar 		124465602 6570.58 TT... T,TTG PASS 1/2 144 None None None None None None None None None None
View 16hpc01701_s1 genome 3 rs201078548
dbSNP Clinvar 		124464215 1840.25 ATT A,AT PASS 1/2 130 None None None None None None None None None None
View 16hpc01701_s1 genome 3 rs561885404
dbSNP Clinvar 		77645946 809.64 CTT C,CT SB 1/2 46 None None None 0.00080 0.09265 None None None None None None ROBO2|0.998771991|0.44%

ZNF717
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 16hpc01701_s1 genome 3 rs62250087
dbSNP Clinvar 		75781263 9.8 T C LowGQ;LowGQX;SB 1/1 1 None None None 0.47 0.00 None None None None None None ZNF717|0.000754901|96.97%

ILDR1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 16hpc01701_s1 genome 3 rs2877561
dbSNP Clinvar 		121712051 1831.36 A C PASS 1/1 59 SYNONYMOUS_CODING LOW None 0.78494 0.78490 0.25219 None None None None None None ILDR1|0.070497069|57.37%

ZNF717
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 16hpc01701_s1 genome 3 rs77322475
dbSNP Clinvar 		75787159 14.92 C T LowGQ;LowGQX 1/1 2 NON_SYNONYMOUS_CODING MODERATE None 0.05 0.00 None None None None None None ZNF717|0.000754901|96.97%
View 16hpc01701_s1 genome 3 rs2118754
dbSNP Clinvar 		75786080 9.8 G A LowGQ;LowGQX;SB 1/1 1 SYNONYMOUS_CODING LOW None 0.62060 None None None None None None ZNF717|0.000754901|96.97%

MYLK
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 16hpc01701_s1 genome 3 rs4678047
dbSNP Clinvar 		123452838 5985.49 G A PASS 1/1 213 SYNONYMOUS_CODING LOW None 0.63279 0.63280 0.42565 None None None None None None MYLK|0.503223171|15.7%

DNAJB8
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 16hpc01701_s1 genome 3 . 128182011 14.89 C A LowGQ;LowGQX 1/1 2 SYNONYMOUS_CODING LOW None None None None None None None DNAJB8|0.029190736|69.78%

CD86
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 16hpc01701_s1 genome 3 rs2681417
dbSNP Clinvar 		121825197 10587.79 G A PASS 1/1 334 NON_SYNONYMOUS_CODING MODERATE None 0.86801 0.86800 0.15170 0.40 0.03 None None None None None None CD86|0.042806213|64.85%
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 16hpc01701_s1 genome 3 rs10580127,rs373110329
dbSNP Clinvar 		121836966 2557.58 TGA T PASS 1/1 62 None None None 1.00000 1.00000 0.00032 None None None None None None CD86|0.042806213|64.85%

DNAJB8
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 16hpc01701_s1 genome 3 rs2659690
dbSNP Clinvar 		128181777 9.8 A G LowGQ;LowGQX;SB 1/1 1 SYNONYMOUS_CODING LOW None 0.47404 0.47400 0.44941 None None None None None None DNAJB8|0.029190736|69.78%
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 16hpc01701_s1 genome 3 rs9869985
dbSNP Clinvar 		121976253 1583.78 G A SB 1/1 48 None None None 0.92193 0.92190 0.08765 None None None None None None CASR|0.90333935|3.37%

CASR
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 16hpc01701_s1 genome 3 rs2036400
dbSNP Clinvar 		122003045 8338.04 G C PASS 1/1 245 SYNONYMOUS_CODING LOW None 0.97284 0.97280 0.02799 None None None None None None CASR|0.90333935|3.37%

ZNF717
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 16hpc01701_s1 genome 3 rs76757483
dbSNP Clinvar 		75786225 9.8 G A LowGQ;LowGQX;SB 1/1 1 NON_SYNONYMOUS_CODING MODERATE None 0.00 0.98 None None None None None None ZNF717|0.000754901|96.97%

CASR
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 16hpc01701_s1 genome 3 rs1801726
dbSNP Clinvar 		122003832 6064.85 G C PASS 1/1 184 NON_SYNONYMOUS_CODING MODERATE None 0.92412 0.92410 0.08219 1.00 0.00 None None None None None None CASR|0.90333935|3.37%

PDHB
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 16hpc01701_s1 genome 3 rs4264746
dbSNP Clinvar 		58416538 5913.58 T C PASS 1/1 194 SYNONYMOUS_CODING LOW None 0.98482 0.98480 0.02030 None None None None None None PDHB|0.64738225|10.19%
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 16hpc01701_s1 genome 3 rs55800015,rs796722021
dbSNP Clinvar 		129814934 3139.0 GC G PASS 1/1 76 None None None 0.45347 0.45350 0.35171 None None None None None None None

KPNA1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 16hpc01701_s1 genome 3 rs4678193
dbSNP Clinvar 		122186188 1865.87 C T PASS 1/1 59 NON_SYNONYMOUS_CODING MODERATE None 0.99381 0.99380 0.00723 0.37 0.01 None None None None None None KPNA1|0.60541022|11.62%

CADPS
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 16hpc01701_s1 genome 3 rs755744968
dbSNP Clinvar 		62535607 14.92 G T LowGQ;LowGQX 1/1 2 NON_SYNONYMOUS_CODING MODERATE None 0.07 0.00 None None None None None None CADPS|0.97149648|1.67%
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 16hpc01701_s1 genome 3 rs821375
dbSNP Clinvar 		124464250 2396.94 G A PASS 1/1 114 None None None 0.07348 0.07348 None None None None None None None

PARP9
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 16hpc01701_s1 genome 3 rs9851180
dbSNP Clinvar 		122259606 44.2 T C LowGQ;LowGQX 1/1 2 NON_SYNONYMOUS_CODING MODERATE None 0.50659 0.50660 0.46586 0.20 0.00 None None None None None None PARP9|0.003836221|87.26%
View 16hpc01701_s1 genome 3 rs28365795
dbSNP Clinvar 		122259640 14.92 T C LowGQ;LowGQX 1/1 2 NON_SYNONYMOUS_CODING MODERATE None 0.00040 0.00040 0.14347 0.06 0.05 None None None None None None PARP9|0.003836221|87.26%

PARP14
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 16hpc01701_s1 genome 3 rs7645033
dbSNP Clinvar 		122437321 9.8 T C LowGQ;LowGQX;SB 1/1 1 SYNONYMOUS_CODING LOW None 0.91873 0.91870 0.11274 None None None None None None PARP14|0.005465038|85.25%
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 16hpc01701_s1 genome 3 rs951350
dbSNP Clinvar 		122477558 9.8 C T LowGQ;LowGQX;SB 1/1 2 None None None 0.92053 0.92050 None None None None None None HSPBAP1|0.054702078|61.27%

CADPS
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 16hpc01701_s1 genome 3 . 62631473 9.8 G T LowGQ;LowGQX;SB 1/1 1 NON_SYNONYMOUS_CODING MODERATE None 0.00 0.35 None None None None None None CADPS|0.97149648|1.67%

DNAJB8
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 16hpc01701_s1 genome 3 . 128181747 9.8 G T LowGQ;LowGQX;SB 1/1 1 NON_SYNONYMOUS_CODING MODERATE None 0.09 0.46 None None None None None None DNAJB8|0.029190736|69.78%

EEFSEC
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 16hpc01701_s1 genome 3 . 128060720 7.08 C A LowGQ;LowGQX;SB 1/1 1 SYNONYMOUS_CODING LOW None None None None None None None EEFSEC|0.161789013|41.32%

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 16hpc01701_s1 genome 3 rs4678027
dbSNP Clinvar 		123167249 351.47 G A PASS 1/1 18 SYNONYMOUS_CODING LOW None 0.98662 0.98660 0.00873 None None None None None None ADCY5|0.611756901|11.41%

PTPLB
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 16hpc01701_s1 genome 3 . 123247257 7.08 C A LowGQ;LowGQX;SB 1/1 1 NON_SYNONYMOUS_CODING MODERATE None 0.00 0.97 None None None None None None HACD2|0.416785369|19.76%
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 16hpc01701_s1 genome 3 rs39639
dbSNP Clinvar 		123378534 14.92 C G LowGQ;LowGQX 1/1 2 None None None 0.54153 0.54150 0.27555 None None None None None None MYLK|0.503223171|15.7%

MYLK
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 16hpc01701_s1 genome 3 rs40305
dbSNP Clinvar 		123411589 2629.49 G A PASS 1/1 92 SYNONYMOUS_CODING LOW None 0.33267 0.33270 0.43665 None None None None None None MYLK|0.503223171|15.7%
View 16hpc01701_s1 genome 3 rs865358
dbSNP Clinvar 		123418913 1088.22 G A SB 1/1 38 SYNONYMOUS_CODING LOW None 0.94788 0.94790 0.05836 None None None None None None MYLK|0.503223171|15.7%
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 16hpc01701_s1 genome 3 rs820355
dbSNP Clinvar 		123440967 377.15 G A PASS 1/1 22 None None None 0.91354 0.91350 0.09120 None None None None None None MYLK|0.503223171|15.7%

MYLK
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 16hpc01701_s1 genome 3 rs9833275
dbSNP Clinvar 		123451773 1721.18 G C PASS 1/1 60 NON_SYNONYMOUS_CODING MODERATE None 0.99900 0.99900 0.00138 1.00 0.48 None None None None None None MYLK|0.503223171|15.7%

THOC7
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 16hpc01701_s1 genome 3 . 63822026 14.9 C G LowGQ;LowGQX 1/1 2 NON_SYNONYMOUS_CODING MODERATE None 0.02 0.93 None None None None None None C3orf49|0.032142651|68.54%,THOC7|0.739160166|7.39%
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 16hpc01701_s1 genome 3 rs2168439
dbSNP Clinvar 		123456432 2211.75 C T PASS 1/1 71 None None None 0.93850 0.93850 0.07051 None None None None None None MYLK|0.503223171|15.7%
View 16hpc01701_s1 genome 3 rs2198766
dbSNP Clinvar 		123457711 631.25 C A PASS 1/1 18 None None None 0.92951 0.92950 0.07996 None None None None None None MYLK|0.503223171|15.7%

MYLK
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 16hpc01701_s1 genome 3 rs9840993
dbSNP Clinvar 		123457893 768.74 G A PASS 1/1 27 NON_SYNONYMOUS_CODING MODERATE None 0.85623 0.85620 0.12756 0.09 0.00 None None None None None None MYLK|0.503223171|15.7%

CCDC14
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 16hpc01701_s1 genome 3 rs2700373
dbSNP Clinvar 		123634046 6141.64 G A PASS 1/1 200 SYNONYMOUS_CODING LOW None 0.84245 0.84250 0.19168 None None None None None None CCDC14|0.022373795|72.95%
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 16hpc01701_s1 genome 3 rs333290
dbSNP Clinvar 		124379748 1296.11 G C PASS 1/1 51 None None None 0.61242 0.61240 0.35499 None None None None None None KALRN|0.624262379|10.99%

CCDC14
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 16hpc01701_s1 genome 3 rs17310144
dbSNP Clinvar 		123665902 4439.04 T G PASS 1/1 138 NON_SYNONYMOUS_CODING MODERATE None 0.29852 0.29850 0.47509 0.14 0.19 None None None None None None CCDC14|0.022373795|72.95%
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 16hpc01701_s1 genome 3 rs6807350
dbSNP Clinvar 		123694595 9.8 C G LowGQ;LowGQX;SB 1/1 1 None None None 0.90415 0.90420 None None None None None None ROPN1|0.056890135|60.71%
View 16hpc01701_s1 genome 3 . 123698464 9.8 C A LowGQ;LowGQX;SB 1/1 3 None None None None None None None None None ROPN1|0.056890135|60.71%

KALRN
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 16hpc01701_s1 genome 3 rs2272486
dbSNP Clinvar 		123988039 7600.54 T C PASS 1/1 244 SYNONYMOUS_CODING LOW None 0.62181 0.62180 0.37464 None None None None None None KALRN|0.624262379|10.99%
View 16hpc01701_s1 genome 3 rs2289778
dbSNP Clinvar 		124044949 6222.14 C T PASS 1/1 217 SYNONYMOUS_CODING LOW None 0.75359 0.75360 0.20637 None None None None None None KALRN|0.624262379|10.99%
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 16hpc01701_s1 genome 3 . 127770712 14.92 G T LowGQ;LowGQX 1/1 2 None None None None None None None None None SEC61A1|0.243049508|32.19%

KALRN
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 16hpc01701_s1 genome 3 rs2289843
dbSNP Clinvar 		124196094 1533.22 A T PASS 1/1 62 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.19728 0.19730 0.08473 None None None None None None KALRN|0.624262379|10.99%
View 16hpc01701_s1 genome 3 rs1708303
dbSNP Clinvar 		124351316 7462.04 G A PASS 1/1 244 SYNONYMOUS_CODING LOW None 0.70627 0.70630 0.36737 None None None None None None KALRN|0.624262379|10.99%
View 16hpc01701_s1 genome 3 rs1660038
dbSNP Clinvar 		124351424 5909.34 T C PASS 1/1 207 SYNONYMOUS_CODING LOW None 0.00040 0.70770 0.36476 None None None None None None KALRN|0.624262379|10.99%
View 16hpc01701_s1 genome 3 rs652863
dbSNP Clinvar 		124352728 5462.43 G A PASS 1/1 182 SYNONYMOUS_CODING LOW None 0.06989 0.06989 0.08042 None None None None None None KALRN|0.624262379|10.99%
View 16hpc01701_s1 genome 3 rs333289
dbSNP Clinvar 		124379817 1333.17 T C PASS 1/1 57 SYNONYMOUS_CODING LOW None 0.60104 0.60100 0.36806 None None None None None None KALRN|0.624262379|10.99%
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 16hpc01701_s1 genome 3 rs333283
dbSNP Clinvar 		124412634 2364.2 G T PASS 1/1 88 None None None 0.72804 0.72800 0.31362 None None None None None None KALRN|0.624262379|10.99%
View 16hpc01701_s1 genome 3 . 124459079 7.08 A C LowGQ;LowGQX;SB 1/1 2 None None None None None None None None None UMPS|0.252757092|31.3%
View 16hpc01701_s1 genome 3 rs649652
dbSNP Clinvar 		124463657 7473.12 C T PASS 1/1 253 None None None 0.53455 0.53450 None None None None None None UMPS|0.252757092|31.3%

MCM2
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 16hpc01701_s1 genome 3 . 127323840 9.8 G A LowGQ;LowGQX;SB 1/1 1 NON_SYNONYMOUS_CODING MODERATE None 0.04 0.26 None None None None None None MCM2|0.488113733|16.41%
View 16hpc01701_s1 genome 3 rs893293
dbSNP Clinvar 		127323830 9.8 C T LowGQ;LowGQX;SB 1/1 1 SYNONYMOUS_CODING LOW None 0.59605 0.59600 0.32301 None None None None None None MCM2|0.488113733|16.41%

TPRA1
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 16hpc01701_s1 genome 3 . 127295910 9.8 C A LowGQ;LowGQX;SB 1/1 1 NON_SYNONYMOUS_CODING MODERATE None 0.12 0.90 None None None None None None TPRA1|0.079293196|55.33%
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 16hpc01701_s1 genome 3 rs369976877
dbSNP Clinvar 		124465341 27540.2 GAGA G PASS 1/1 505 None None None None None None None None None None

PLXNA1
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 16hpc01701_s1 genome 3 . 126732881 9.8 G T LowGQ;LowGQX;SB 1/1 1 NON_SYNONYMOUS_CODING MODERATE None 0.00 0.84 None None None None None None PLXNA1|0.069690054|57.55%

TXNRD3
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 16hpc01701_s1 genome 3 . 126350684 9.8 A T LowGQ;LowGQX;SB 1/1 1 SYNONYMOUS_CODING LOW None None None None None None None TXNRD3|0.029007641|69.87%
View 16hpc01701_s1 genome 3 rs763780159
dbSNP Clinvar 		126350664 9.8 G A LowGQ;LowGQX;SB 1/1 1 NON_SYNONYMOUS_CODING MODERATE None 0.05 0.27 None None None None None None TXNRD3|0.029007641|69.87%
View 16hpc01701_s1 genome 3 . 126327473 9.8 G A LowGQ;LowGQX;SB 1/1 1 NON_SYNONYMOUS_CODING MODERATE None 0.00 0.98 None None None None None None TXNRD3|0.029007641|69.87%
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 16hpc01701_s1 genome 3 rs1687480
dbSNP Clinvar 		126236348 944.59 T C SB 1/1 26 None None None 0.99900 0.99900 None None None None None None UROC1|0.08000092|55.16%
View 16hpc01701_s1 genome 3 rs729456
dbSNP Clinvar 		126228410 1511.4 G A PASS 1/1 51 None None None 0.43031 0.43030 0.43135 None None None None None None UROC1|0.08000092|55.16%
View 16hpc01701_s1 genome 3 rs593292
dbSNP Clinvar 		124467069 3069.9 T G PASS 1/1 108 None None None 0.96246 0.96250 None None None None None None None
View 16hpc01701_s1 genome 3 rs689449
dbSNP Clinvar 		124467247 1225.43 C A PASS 1/1 41 None None None 0.34505 0.34500 None None None None None None None
View 16hpc01701_s1 genome 3 rs591963
dbSNP Clinvar 		124467361 1616.5 C T PASS 1/1 52 None None None 0.07288 0.07288 None None None None None None None

MUC13
Omim - GeneCards - NCBI
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View 16hpc01701_s1 genome 3 rs1127233
dbSNP Clinvar 		124627024 2743.13 T G PASS 1/1 99 NON_SYNONYMOUS_CODING MODERATE None 0.22943 0.22940 0.26534 0.62 0.00 None None None None None None MUC13|0.000146036|99.87%
View 16hpc01701_s1 genome 3 rs4679392
dbSNP Clinvar 		124646594 1534.34 A G PASS 1/1 47 NON_SYNONYMOUS_CODING MODERATE None 0.39377 0.39380 0.43319 1.00 0.00 None None None None None None MUC13|0.000146036|99.87%
View 16hpc01701_s1 genome 3 rs10630030,rs397759224
dbSNP Clinvar 		124646705 1203.61 A AAAG PASS 1/1 22 CODON_INSERTION MODERATE None 0.98602 0.98600 0.01334 None None None None None None MUC13|0.000146036|99.87%
View 16hpc01701_s1 genome 3 rs4679394
dbSNP Clinvar 		124646837 753.19 G A PASS 1/1 29 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.10623 0.10620 0.11456 0.00 0.06 None None None None None None MUC13|0.000146036|99.87%

ZNF148
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 16hpc01701_s1 genome 3 . 125042233 9.8 T C LowGQ;LowGQX;SB 1/1 1 None None None None None None None None None ZNF148|0.651025084|10.08%

ZNF717
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 16hpc01701_s1 genome 3 rs3009020
dbSNP Clinvar 		75786753 9.8 C T LowGQ;LowGQX;SB 1/1 1 NON_SYNONYMOUS_CODING MODERATE None 0.67432 0.67430 0.02 0.00 None None None None None None ZNF717|0.000754901|96.97%
View 16hpc01701_s1 genome 3 rs77490669
dbSNP Clinvar 		75787116 7.08 T G LowGQ;LowGQX;SB 1/1 1 NON_SYNONYMOUS_CODING MODERATE None 0.00 0.99 None None None None None None ZNF717|0.000754901|96.97%
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 16hpc01701_s1 genome 3 rs7633797
dbSNP Clinvar 		125653291 1121.95 A G PASS 1/1 43 None None None 0.58766 0.58770 None None None None None None ALG1L|0.003997673|87.03%
View 16hpc01701_s1 genome 3 rs777479
dbSNP Clinvar 		126208249 1795.03 A C PASS 1/1 59 None None None 0.49161 0.49160 0.49116 None None None None None None UROC1|0.08000092|55.16%
View 16hpc01701_s1 genome 3 rs6771670
dbSNP Clinvar 		126218159 2264.14 T A PASS 1/1 87 None None None 0.20028 0.20030 0.27732 None None None None None None UROC1|0.08000092|55.16%
View 16hpc01701_s1 genome 3 rs13072404
dbSNP Clinvar 		126219030 5036.3 T C PASS 1/1 160 None None None 0.53375 0.53370 0.46801 None None None None None None UROC1|0.08000092|55.16%

UROC1
Omim - GeneCards - NCBI
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View 16hpc01701_s1 genome 3 rs34025926
dbSNP Clinvar 		126219627 7598.86 G A PASS 1/1 304 SYNONYMOUS_CODING LOW None 0.21665 0.21670 0.29571 None None None None None None UROC1|0.08000092|55.16%
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 16hpc01701_s1 genome 3 rs201018413
dbSNP Clinvar 		126219750 2213.91 A C PASS 1/1 69 None None None 0.19609 0.19610 None None None None None None UROC1|0.08000092|55.16%
View 16hpc01701_s1 genome 3 rs139417364,rs762446260
dbSNP Clinvar 		126219752 10223.84 AC... A PASS 1/1 69 None None None 0.24852 None None None None None None UROC1|0.08000092|55.16%

ZNF717
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 16hpc01701_s1 genome 3 rs79560192
dbSNP Clinvar 		75787145 7.08 T C LowGQ;LowGQX;SB 1/1 1 SYNONYMOUS_CODING LOW None None None None None None None ZNF717|0.000754901|96.97%
View 16hpc01701_s1 genome 3 rs73843011
dbSNP Clinvar 		75787169 14.91 G A LowGQ;LowGQX 1/1 2 SYNONYMOUS_CODING LOW None None None None None None None ZNF717|0.000754901|96.97%
View 16hpc01701_s1 genome 3 rs200945611
dbSNP Clinvar 		75787174 14.92 G T LowGQ;LowGQX 1/1 2 NON_SYNONYMOUS_CODING MODERATE None 0.02 0.17 None None None None None None ZNF717|0.000754901|96.97%
View 16hpc01701_s1 genome 3 rs73843012
dbSNP Clinvar 		75787186 14.92 C T LowGQ;LowGQX 1/1 2 NON_SYNONYMOUS_CODING MODERATE None 1.00 0.00 None None None None None None ZNF717|0.000754901|96.97%
View 16hpc01701_s1 genome 3 rs201606605
dbSNP Clinvar 		75787218 14.92 T A LowGQ;LowGQX 1/1 2 NON_SYNONYMOUS_CODING MODERATE None 0.01 0.37 None None None None None None ZNF717|0.000754901|96.97%
View 16hpc01701_s1 genome 3 rs79089658
dbSNP Clinvar 		75787221 14.92 C T LowGQ;LowGQX 1/1 2 NON_SYNONYMOUS_CODING MODERATE None 0.58 0.02 None None None None None None ZNF717|0.000754901|96.97%
View 16hpc01701_s1 genome 3 . 75787222 14.92 A G LowGQ;LowGQX 1/1 2 NON_SYNONYMOUS_CODING MODERATE None 0.74 0.00 None None None None None None ZNF717|0.000754901|96.97%
View 16hpc01701_s1 genome 3 rs112847134
dbSNP Clinvar 		75787224 9.8 C T LowGQ;LowGQX;SB 1/1 2 NON_SYNONYMOUS_CODING MODERATE None 0.54 0.11 None None None None None None ZNF717|0.000754901|96.97%
View 16hpc01701_s1 genome 3 rs76111663
dbSNP Clinvar 		75787240 14.9 A G LowGQ;LowGQX 1/1 2 NON_SYNONYMOUS_CODING MODERATE None 0.00 0.98 None None None None None None ZNF717|0.000754901|96.97%
View 16hpc01701_s1 genome 3 rs370463977
dbSNP Clinvar 		75787244 14.91 A G LowGQ;LowGQX 1/1 2 SYNONYMOUS_CODING LOW None None None None None None None ZNF717|0.000754901|96.97%
View 16hpc01701_s1 genome 3 . 75787265 9.8 C G LowGQ;LowGQX;SB 1/1 1 SYNONYMOUS_CODING LOW None None None None None None None ZNF717|0.000754901|96.97%
View 16hpc01701_s1 genome 3 . 75787870 9.8 A G LowGQ;LowGQX;SB 1/1 1 NON_SYNONYMOUS_CODING MODERATE None 0.15 0.00 None None None None None None ZNF717|0.000754901|96.97%
View 16hpc01701_s1 genome 3 rs774073278
dbSNP Clinvar 		75787269 9.8 G T LowGQ;LowGQX;SB 1/1 1 NON_SYNONYMOUS_CODING MODERATE None 0.00 0.93 None None None None None None ZNF717|0.000754901|96.97%
View 16hpc01701_s1 genome 3 rs80214832
dbSNP Clinvar 		75787279 9.8 A T LowGQ;LowGQX;SB 1/1 1 NON_SYNONYMOUS_CODING MODERATE None 1.00 0.00 None None None None None None ZNF717|0.000754901|96.97%

DENND6A
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 16hpc01701_s1 genome 3 . 57651946 9.8 G T LowGQ;LowGQX;SB 1/1 1 SYNONYMOUS_CODING LOW None None None None None None None DENND6A|0.396776918|20.97%
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 16hpc01701_s1 genome 3 rs73081810
dbSNP Clinvar 		56599159 9.8 T C LowGQ;LowGQX;SB 1/1 1 None None None 0.21506 0.21510 None None None None None None CCDC66|0.050930369|62.39%

ZNF717
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 16hpc01701_s1 genome 3 . 75787869 9.8 C T LowGQ;LowGQX;SB 1/1 1 NON_SYNONYMOUS_CODING MODERATE None 0.01 0.00 None None None None None None ZNF717|0.000754901|96.97%