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Genes:
AARS, ABAT, ABCA3, ABCC1, ABCC11, ABCC12, ABCC6, AC004381.6, AC010536.1, ACSF3, ACSM1, ACSM2A, ACSM2B, ACSM5, ADAD2, ADAMTS18, ADCY7, ADCY9, AHSP, ALG1, ANKRD11, ANKS3, AP1G1, APOBR, APRT, AQP8, ARMC5, ASPHD1, ATF7IP2, ATMIN, ATP2A1, ATP2C2, ATXN1L, ATXN2L, AXIN1, BAIAP3, BANP, BBS2, BCAR1, BCKDK, BCMO1, BRICD5, C16orf11, C16orf13, C16orf3, C16orf46, C16orf52, C16orf62, C16orf71, C16orf89, C16orf91, C16orf95, CA5A, CACNA1H, CAPN15, CAPNS2, CARHSP1, CASKIN1, CASP16, CCDC102A, CCDC135, CCDC154, CCDC64B, CCDC78, CCL22, CCNF, CCP110, CD19, CDH1, CDH11, CDH13, CDH15, CDH3, CDH5, CDIP1, CDT1, CENPBD1, CENPN, CES1, CES5A, CETP, CFDP1, CHD9, CHTF18, CIITA, CLCN7, CLDN6, CLEC16A, CLEC18A, CLEC18B, CLEC19A, CMC2, CMTM1, CMTM2, CMTM4, CMTR2, CNGB1, CNOT1, CNTNAP4, COG4, COQ7, CORO1A, CORO7, CORO7-PAM16, COX4I1, CPNE2, CPNE7, CPPED1, CRAMP1L, CRISPLD2, CRYM, CTB-134H23.2, CTD-2600O9.1, CTD-3088G3.8, CTRB2, CTU2, CYBA, DDX28, DHX38, DNAAF1, DNAH3, DNASE1, DOC2A, DPEP1, DPEP2, E2F4, E4F1, EARS2, EEF2K, EME2, EMP2, ERI2, FA2H, FAHD1, FAM173A, FAM57B, FAM86A, FANCA, FBXL16, FBXL19, FLJ00104, FLYWCH1, FLYWCH2, FUS, GALNS, GAS8, GCSH, GDPD3, GGA2, GLG1, GLIS2, GLYR1, GNAO1, GOT2, GP2, GPR139, GPR56, GPR97, GPRC5B, GSE1, GSG1L, GSPT1, GTF3C1, HAGH, HAGHL, HCFC1R1, HEATR3, HPR, HS3ST2, HS3ST4, HS3ST6, HSD17B2, HSD3B7, HSDL1, HYDIN, IFT140, IGFALS, IGHV3OR16-13, IGHV3OR16-9, IL32, IL34, IQCK, IRF8, IRX3, IRX6, IST1, ITFG3, ITGAD, ITGAL, ITGAM, ITGAX, JPH3, KAT8, KATNB1, KCNG4, KDM8, KIAA0430, KIAA0556, KIF22, KIFC3, KLHDC4, LAT, LCMT1, LITAF, LPCAT2, MAF, MAP1LC3B, MAPK8IP3, MARVELD3, MC1R, MEFV, MEIOB, METRN, METTL22, MLST8, MMP2, MON1B, MPHOSPH6, MRPL28, MRPS34, MSLN, MSLNL, MSRB1, MT1A, MT1M, MT4, MTHFSD, MVD, MYH11, MYLK3, NAA60, NAGPA, NARFL, NDRG4, NECAB2, NLRC3, NLRC5, NME3, NOB1, NOD2, NOMO1, NOMO2, NOMO3, NPIPA1, NPIPB11, NPIPB15, NPIPB3, NPIPB5, NPIPB6, NPRL3, NPW, NQO1, NSMCE1, NUBP1, NUBP2, NUDT7, NUP93, OR1F1, OR2C1, ORAI3, OSGIN1, PABPN1L, PALB2, PDIA2, PDILT, PDPR, PDXDC1, PHLPP2, PIEZO1, PIGQ, PKD1, PKD1L2, PLCG2, PLEKHG4, PMFBP1, POLR2C, POLR3E, POLR3K, PPL, PRKCB, PRM1, PRM3, PRMT7, PRR14, PRR25, PRRT2, PRSS21, PRSS36, PRSS53, PRSS54, PTX4, QPRT, RAB11FIP3, RBL2, RFWD3, RGS11, RHOT2, RMI2, RNF166, RNF40, RP11-166B2.1, RP11-276H1.3, RP11-324D17.1, RP11-830F9.6, RPS2, RSL1D1, SALL1, SBK1, SCNN1B, SCNN1G, SDR42E2, SEPT1, SETD6, SEZ6L2, SF3B3, SHCBP1, SHISA9, SLC12A3, SLC22A31, SLC38A7, SLC38A8, SLC5A11, SLC6A2, SLC7A5, SLC7A6OS, SMG1, SMPD3, SNX20, SNX29, SOX8, SPATA2L, SPIRE2, SPN, SPNS1, SPSB3, SRCAP, SRL, SRRM2, SSTR5, STUB1, SULT1A1, SULT1A2, SYCE1L, TAF1C, TAOK2, TBC1D10B, TBL3, TCEB2, TCF25, TEKT5, TELO2, TEPP, TFAP4, THUMPD1, TK2, TLDC1, TMC5, TMC7, TMEM159, TMEM204, TMEM8A, TNFRSF17, TNP2, TNRC6A, TOX3, TP53TG3D, TPSAB1, TPSD1, TPSG1, TRAP1, TRIM72, TUBB3, TUBB8P7, TXNDC11, UBE2I, UMOD, UNKL, USP10, USP31, USP7, VAC14, VASN, VKORC1, VPS35, VPS9D1, VWA3A, WDR24, WDR59, WDR90, WFIKKN1, WWOX, WWP2, XPO6, XYLT1, ZC3H18, ZC3H7A, ZCCHC14, ZDHHC7, ZFHX3, ZFP90, ZFPM1, ZG16, ZKSCAN2, ZNF174, ZNF19, ZNF205, ZNF23, ZNF263, ZNF267, ZNF319, ZNF469, ZNF48, ZNF500, ZNF597, ZNF598, ZNF646, ZNF668, ZNF720, ZNF75A, ZNF768, ZNF778, ZP2,

+ Genes associated with diseases 101

Genes at Omim

AARS, ABAT, ABCA3, ABCC11, ABCC6, ACSF3, ADAMTS18, ALG1, ANKRD11, APRT, ARMC5, ATP2A1, AXIN1, BBS2, BCKDK, CA5A, CACNA1H, CCDC78, CD19, CDH1, CDH11, CDH15, CDH3, CDT1, CES1, CETP, CIITA, CLCN7, CNGB1, COG4, COQ7, CORO1A, CRYM, CTU2, CYBA, DHX38, DNAAF1, DNASE1, EARS2, EMP2, FA2H, FANCA, FUS, GALNS, GAS8, GCSH, GLIS2, GNAO1, HAGH, HSD3B7, HYDIN, IFT140, IGFALS, IRF8, JPH3, KATNB1, KIF22, LAT, LITAF, MAF, MC1R, MEFV, MEIOB, MMP2, MRPS34, MVD, MYH11, NOD2, NPRL3, NQO1, NUP93, PALB2, PIEZO1, PKD1, PLCG2, PMFBP1, PRMT7, PRRT2, RFWD3, SALL1, SCNN1B, SCNN1G, SLC12A3, SLC38A8, SLC6A2, SRCAP, SSTR5, STUB1, TELO2, TK2, TNRC6A, TUBB3, UMOD, VAC14, VKORC1, VPS35, WWOX, XYLT1, ZFHX3, ZNF469, ZP2,

AARS	Charcot-Marie-Tooth disease, axonal, type 2N, 613287 (3) Epileptic encephalopathy, early infantile, 29, 616339 (3)
ABAT	GABA-transaminase deficiency, 613163 (3)
ABCA3	Surfactant metabolism dysfunction, pulmonary, 3, 610921 (3)
ABCC11	[Axillary odor, variation in], 117800 (3) [Colostrum secretion, variation in], 117800 (3) [Earwax, wet/dry], 117800 (3)
ABCC6	Arterial calcification, generalized, of infancy, 2, 614473 (3) Pseudoxanthoma elasticum, 264800 (3) Pseudoxanthoma elasticum, forme fruste, 177850 (3)
ACSF3	Combined malonic and methylmalonic aciduria, 614265 (3)
ADAMTS18	Microcornea, myopic chorioretinal atrophy, and telecanthus, 615458 (3)
ALG1	Congenital disorder of glycosylation, type Ik, 608540 (3)
ANKRD11	KBG syndrome, 148050 (3)
APRT	Adenine phosphoribosyltransferase deficiency, 614723 (3)
ARMC5	ACTH-independent macronodular adrenal hyperplasia 2, 615954 (3)
ATP2A1	Brody myopathy, 601003 (3)
AXIN1	Hepatocellular carcinoma, somatic, 114550 (3) ?Caudal duplication anomaly, 607864 (3)
BBS2	Bardet-Biedl syndrome 2, 615981 (3) Retinitis pigmentosa 74, 616562 (3)
BCKDK	Branched-chain ketoacid dehydrogenase kinase deficiency, 614923 (3)
CA5A	Hyperammonemia due to carbonic anhydrase VA deficiency, 615751 (3)
CACNA1H	Hyperaldosteronism, familial, type IV, 617027 (3) {Epilepsy, childhood absence, susceptibility to, 6}, 611942 (3) {Epilepsy, idiopathic generalized, susceptibility to, 6}, 611942 (3)
CCDC78	?Centronuclear myopathy 4, 614807 (3)
CD19	Immunodeficiency, common variable, 3, 613493 (3)
CDH1	Gastric cancer, hereditary diffuse, with or without cleft lip and/or palate, 137215 (3) Blepharocheilodontic syndrome 1, 119580 (3) Endometrial carcinoma, somatic, 608089 (3) {Prostate cancer, susceptibility to}, 176807 (3) Ovarian cancer, somatic, 167000 (3) {Breast cancer, lobular}, 114480 (3)
CDH11	Elsahy-Waters syndrome, 211380 (3)
CDH15	Mental retardation, autosomal dominant 3, 612580 (3)
CDH3	Hypotrichosis, congenital, with juvenile macular dystrophy, 601553 (3) Ectodermal dysplasia, ectrodactyly, and macular dystrophy, 225280 (3)
CDT1	Meier-Gorlin syndrome 4, 613804 (3)
CES1	Drug metabolism, altered, CES1-related, 618057 (3)
CETP	Hyperalphalipoproteinemia, 143470 (3) [High density lipoprotein cholesterol level QTL 10], 143470 (3)
CIITA	Bare lymphocyte syndrome, type II, complementation group A, 209920 (3) {Rheumatoid arthritis, susceptibility to}, 180300 (3)
CLCN7	Osteopetrosis, autosomal dominant 2, 166600 (3) Osteopetrosis, autosomal recessive 4, 611490 (3)
CNGB1	Retinitis pigmentosa 45, 613767 (3)
COG4	Congenital disorder of glycosylation, type IIj, 613489 (3) Saul-Wilson syndrome, 618150 (3)
COQ7	?Coenzyme Q10 deficiency, primary, 8, 616733 (3)
CORO1A	Immunodeficiency 8, 615401 (3)
CRYM	Deafness, autosomal dominant 40, 616357 (3)
CTU2	Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome, 618142 (3)
CYBA	Chronic granulomatous disease, autosomal, due to deficiency of CYBA, 233690 (3)
DHX38	Retinitis pigmentosa 84, 618220 (3)
DNAAF1	Ciliary dyskinesia, primary, 13, 613193 (3)
DNASE1	{Systemic lupus erythematosus, susceptibility to}, 152700 (3)
EARS2	Combined oxidative phosphorylation deficiency 12, 614924 (3)
EMP2	Nephrotic syndrome, type 10, 615861 (3)
FA2H	Spastic paraplegia 35, autosomal recessive, 612319 (3)
FANCA	Fanconi anemia, complementation group A, 227650 (3)
FUS	Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia, 608030 (3) Essential tremor, hereditary, 4, 614782 (3)
GALNS	Mucopolysaccharidosis IVA, 253000 (3)
GAS8	Ciliary dyskinesia, primary, 33, 616726 (3)
GCSH	?Glycine encephalopathy, 605899 (3)
GLIS2	Nephronophthisis 7, 611498 (3)
GNAO1	Epileptic encephalopathy, early infantile, 17, 615473 (3) Neurodevelopmental disorder with involuntary movements, 617493 (3)
HAGH	[Glyoxalase II deficiency], 614033 (1)
HSD3B7	Bile acid synthesis defect, congenital, 1, 607765 (3)
HYDIN	Ciliary dyskinesia, primary, 5, 608647 (3)
IFT140	Retinitis pigmentosa 80, 617781 (3) Short-rib thoracic dysplasia 9 with or without polydactyly, 266920 (3)
IGFALS	Acid-labile subunit, deficiency of, 615961 (3)
IRF8	Immunodeficiency 32A, mycobacteriosis, autosomal dominant, 614893 (3) Immunodeficiency 32B, monocyte and dendritic cell deficiency, autosomal recessive, 226990 (3)
JPH3	Huntington disease-like 2, 606438 (3)
KATNB1	Lissencephaly 6, with microcephaly, 616212 (3)
KIF22	Spondyloepimetaphyseal dysplasia with joint laxity, type 2, 603546 (3)
LAT	Immunodeficiency 52, 617514 (3)
LITAF	Charcot-Marie-Tooth disease, type 1C, 601098 (3)
MAF	Ayme-Gripp syndrome, 601088 (3) Cataract 21, multiple types, 610202 (3)
MC1R	{Melanoma, cutaneous malignant, 5}, 613099 (3) {UV-induced skin damage}, 266300 (3) [Analgesia from kappa-opioid receptor agonist, female-specific], 613098 (3) [Skin/hair/eye pigmentation 2, blond hair/fair skin], 266300 (3) [Skin/hair/eye pigmentation 2, red hair/fair skin], 266300 (3) {Albinism, oculocutaneous, type II, modifier of}, 203200 (3)
MEFV	Familial Mediterranean fever, AD, 134610 (3) Familial Mediterranean fever, AR, 249100 (3)
MEIOB	?Spermatogenic failure 22, 617706 (3)
MMP2	Multicentric osteolysis, nodulosis, and arthropathy, 259600 (3)
MRPS34	Combined oxidative phosphorylation deficiency 32, 617664 (3)
MVD	Porokeratosis 7, multiple types, 614714 (3)
MYH11	Aortic aneurysm, familial thoracic 4, 132900 (3)
NOD2	Blau syndrome, 186580 (3) {Inflammatory bowel disease 1, Crohn disease}, 266600 (3) {Psoriatic arthritis, susceptibility to}, 607507 (2) {Yao syndrome}, 617321 (3)
NPRL3	Epilepsy, familial focal, with variable foci 3, 617118 (3)
NQO1	{Leukemia, post-chemotherapy, susceptibility to} (3) {Benzene toxicity, susceptibility to} (3) {Breast cancer, poor survival after chemotherapy for} (3)
NUP93	Nephrotic syndrome, type 12, 616892 (3)
PALB2	Fanconi anemia, complementation group N, 610832 (3) {Pancreatic cancer, susceptibility to, 3}, 613348 (3) {Breast cancer, susceptibility to}, 114480 (3)
PIEZO1	Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, 194380 (3) Lymphatic malformation 6, 616843 (3)
PKD1	Polycystic kidney disease 1, 173900 (3)
PLCG2	Familial cold autoinflammatory syndrome 3, 614468 (3) Autoinflammation, antibody deficiency, and immune dysregulation syndrome, 614878 (3)
PMFBP1	Spermatogenic failure 31, 618112 (3)
PRMT7	Short stature, brachydactyly, intellectual developmental disability, and seizures, 617157 (3)
PRRT2	Convulsions, familial infantile, with paroxysmal choreoathetosis, 602066 (3) Episodic kinesigenic dyskinesia 1, 128200 (3) Seizures, benign familial infantile, 2, 605751 (3)
RFWD3	?Fanconi anemia, complementation group W, 617784 (3)
SALL1	Townes-Brocks branchiootorenal-like syndrome, 107480 (3) Townes-Brocks syndrome 1, 107480 (3)
SCNN1B	Bronchiectasis with or without elevated sweat chloride 1, 211400 (3) Liddle syndrome 1, 177200 (3) Pseudohypoaldosteronism, type I, 264350 (3)
SCNN1G	Bronchiectasis with or without elevated sweat chloride 3, 613071 (3) Liddle syndrome 2, 618114 (3) Pseudohypoaldosteronism, type I, 264350 (3)
SLC12A3	Gitelman syndrome, 263800 (3)
SLC38A8	Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis, 609218 (3)
SLC6A2	?Orthostatic intolerance, 604715 (3)
SRCAP	Floating-Harbor syndrome, 136140 (3)
SSTR5	Somatostatin analog, resistance to (3)
STUB1	?Spinocerebellar ataxia 48, 618093 (3) Spinocerebellar ataxia, autosomal recessive 16, 615768 (3)
TELO2	You-Hoover-Fong syndrome, 616954 (3)
TK2	Mitochondrial DNA depletion syndrome 2 (myopathic type), 609560 (3) ?Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3, 617069 (3)
TNRC6A	?Epilepsy, familial adult myoclonic, 6, 618074 (3)
TUBB3	Fibrosis of extraocular muscles, congenital, 3A, 600638 (3) Cortical dysplasia, complex, with other brain malformations 1, 614039 (3)
UMOD	Glomerulocystic kidney disease with hyperuricemia and isosthenuria, 609886 (3) Hyperuricemic nephropathy, familial juvenile 1, 162000 (3) Medullary cystic kidney disease 2, 603860 (3)
VAC14	Striatonigral degeneration, childhood-onset, 617054 (3)
VKORC1	Vitamin K-dependent clotting factors, combined deficiency of, 2, 607473 (3) Warfarin resistance, 122700 (3)
VPS35	{Parkinson disease 17}, 614203 (3)
WWOX	Epileptic encephalopathy, early infantile, 28, 616211 (3) Esophageal squamous cell carcinoma, somatic, 133239 (3) Spinocerebellar ataxia, autosomal recessive 12, 614322 (3)
XYLT1	Desbuquois dysplasia 2, 615777 (3) {Pseudoxanthoma elasticum, modifier of severity of}, 264800 (3)
ZFHX3	Prostate cancer, somatic, 176807 (3)
ZNF469	Brittle cornea syndrome 1, 229200 (3)
ZP2	Oocyte maturation defect 6, 618353 (3)

Genes at Clinical Genomics Database

AARS, ABAT, ABCA3, ABCC11, ABCC6, ACSF3, ADAMTS18, ALG1, ANKRD11, APRT, ARMC5, ATP2A1, AXIN1, BBS2, BCKDK, CA5A, CD19, CDH1, CDH15, CDH3, CDT1, CES1, CETP, CIITA, CLCN7, CNGB1, COG4, COQ7, CORO1A, CRYM, CYBA, DNAAF1, DNASE1, EARS2, EMP2, FA2H, FANCA, FUS, GALNS, GAS8, GCSH, GLIS2, GNAO1, HSD3B7, IFT140, IGFALS, IRF8, JPH3, KATNB1, KIAA0556, KIF22, LITAF, MAF, MC1R, MEFV, MMP2, MVD, MYH11, NOD2, PALB2, PIEZO1, PKD1, PLCG2, PRRT2, SALL1, SCNN1B, SCNN1G, SLC12A3, SLC38A8, SLC6A2, SRCAP, SSTR5, STUB1, TK2, TRAP1, TUBB3, UMOD, VKORC1, VPS35, WWOX, XYLT1, ZNF469,

AARS	Charcot-Marie-Tooth disease, axonal, type 2N Epileptic encephalopathy, early infantile, 29
ABAT	GABA-transaminase deficiency
ABCA3	Surfactant metabolism dysfunction, pulmonary, 3 Interstitial lung disease
ABCC11	Apocrine gland secretion, variation in
ABCC6	Pseudoxanthoma elasticum
ACSF3	Combined malonic and methylmalonic aciduria
ADAMTS18	Knobloch syndrome 2 Microcornea, myopic chorioretinal atrophy, and telecanthus Retinal dystrophy, early onset, autosomal recessive
ALG1	Congenital disorder of glycosylation, type Ik
ANKRD11	KBG syndrome
APRT	Adenine phosphoribosyltransferase deficiency
ARMC5	ACTH-independent macronodular adrenal hyperplasia 2
ATP2A1	Brody myopathy
AXIN1	Caudal duplication anomaly
BBS2	Bardet-Biedl syndrome 2 Retinitis pigmentosa 74
BCKDK	Branched-chain ketoacid dehydrogenase kinase deficiency
CA5A	Carbonic anhydrase VA deficiency
CD19	Immunodeficiency, common variable 3
CDH1	CDH1-related cancer
CDH15	Mental retardation, autosomal dominant 3
CDH3	Hypotrichosis, congenital, with juvenile macular dystrophy Ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome
CDT1	Meier-Gorlin syndrome 4
CES1	Carboxylesterase 1 deficiency
CETP	Hyperalphalipoproteinemia 1
CIITA	Bare lymphocyte syndrome, type II
CLCN7	Osteopetrosis, autosomal dominant 2 Osteopetrosis, autosomal recessive 4
CNGB1	Retinitis pigmentosa 45
COG4	Congenital disorder of glycosylation, type IIj
COQ7	Coenzyme Q10 deficiency, primary 8
CORO1A	Immunodeficiency 8
CRYM	Deafness, autosomal dominant 40
CYBA	Chronic granulomatous disease, autosomal, due to deficiency of CYBA
DNAAF1	Ciliary dyskinesia, primary, 13
DNASE1	Macular dystrophy, North Carolina type
EARS2	Combined oxidative phosphorylation deficiency 12
EMP2	Nephrotic syndrome, type 10
FA2H	Spastic paraplegia 35, autosomal recessive
FANCA	Fanconi anemia, complementation group A
FUS	Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia Essential tremor
GALNS	Mucopolysaccharidosis IVA (Morquio syndrome A)
GAS8	Ciliary dyskinesia, primary, 33
GCSH	Glycine encephalopathy
GLIS2	Nephronophthisis 7
GNAO1	Epileptic encephalopathy, early infantile, 17
HSD3B7	Bile acid synthesis defect, congenital, 1
IFT140	Short-rib thoracic dysplasia 9 with or without polydactyly
IGFALS	Insulin-like growth factor-binding protein, acid-labile subunit, deficiency of
IRF8	Immunodeficiency 32A (CD11C-positive/CD1C-positive dendritic cell deficiency) Immunodeficiency 32B (monocyte and dendritic cell deficiency)
JPH3	Huntington disease-like 2
KATNB1	Lissencephaly 6, with microcephaly
KIAA0556	Joubert syndrome 26
KIF22	Spondyloepimetaphyseal dysplasia with joint laxity, type 2
LITAF	Charcot-Marie-Tooth disease, type 1C
MAF	Ayme-Gripp syndrome
MC1R	Increased analgesia from kappa-opioid receptor agonist, female specific
MEFV	Familial Mediterranean fever
MMP2	Torg-Winchester syndrome Multicentric osteolysis, nodulosis, and arthropathy
MVD	Porokeratosis 7
MYH11	Aortic aneurysm, familial thoracic 4
NOD2	Blau syndrome Sarcoidosis, early-onset
PALB2	Breast cancer Pancreatic cancer, susceptibility to 3 Fanconi anemia, complementation group N
PIEZO1	Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema
PKD1	Polycystic kidney disease, adult type I
PLCG2	Familial cold autoinflammatory syndrome 3 (PLAID) Autoinflammation, antibody deficiency, and immune dysregulation syndrome (APLAID)
PRRT2	Episodic kinesigenic dyskinesia 1
SALL1	Townes-Brocks syndrome
SCNN1B	Pseudohypoaldosteronism, type I Liddle syndrome Bronchiectasis with or without elevated sweat chloride 3
SCNN1G	Pseudohypoaldosteronism, type I Liddle syndrome Bronchiectasis with or without elevated sweat chloride 3
SLC12A3	Gitelman syndrome
SLC38A8	Foveal hypoplasia 2
SLC6A2	Orthostatic intolerance
SRCAP	Floating-Harbor syndrome
SSTR5	Resistance to somatostatin treatment
STUB1	Spinocerebellar ataxia, autosomal recessive 16
TK2	Mitochondrial DNA depletion syndrome 2
TRAP1	Congenital abnormalities of the kidney and urinary tract VACTERL association
TUBB3	Cortical dysplasia, complex, with other brain malformations 1 Fibrosis of extraocular muscles, congenital, 3A
UMOD	Familial juvenile hyperuricemic nephropathy Glomerulocystic kidney disease with hyperuricemia and isosthenuria
VKORC1	Vitamin K-dependent clotting factors, combined deficiency of, 2 Drug metabolism, VKORC1-related
VPS35	Parkinson disease 17
WWOX	Epileptic encephalopathy, early infantile, 28 Spinocerebellar ataxia, autosomal recessive 12
XYLT1	Desbuquois dysplasia 2
ZNF469	Brittle cornea syndrome 1

Genes at HGMD

Summary

Number of Variants: 4053
Number of Genes: 422

Export to: CSV

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AARS
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	62408779_s7 mvar 62408779_S7.SAMTOOLS	16	rs4081753 dbSNP Clinvar	70287177	1747.77	A	G	PASS	0/1	114	None	None	None	0.88119	0.88120	0.15082				None None	None None None None	AARS\|0.341353977\|24.74%
ABAT
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	62408779_s7 mvar 62408779_S7.SAMTOOLS	16	rs555183419 dbSNP Clinvar	8866767	623.77	C	T	PASS	0/1	37	None	None	None				0.13	0.07	4.19	0.02 0.4671 T	None None None None	ABAT\|0.163825558\|41.04%
	View	62408779_s7 mvar 62408779_S7.SAMTOOLS	16	rs1731017 dbSNP Clinvar	8839954	1481.77	A	G	PASS	1/1	36	None	None	None	0.50080	0.50080	0.48599	0.61	0.00	-0.44	None None	None None None None	ABAT\|0.163825558\|41.04%
ABCA3
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	62408779_s7 mvar 62408779_S7.SAMTOOLS	16	rs149532 dbSNP Clinvar	2331430	5522.77	A	G	PASS	1/1	127	None	None	None	0.90096	0.90100	0.13058				None None	None None None None	ABCA3\|0.043607901\|64.64%
	View	62408779_s7 mvar 62408779_S7.SAMTOOLS	16	rs13332514 dbSNP Clinvar	2367336	1957.77	G	A	PASS	0/1	100	None	None	None	0.19269	0.19270	0.09465				None None	None None None None	ABCA3\|0.043607901\|64.64%
ABCC1
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	62408779_s7 mvar 62408779_S7.SAMTOOLS	16	rs246221 dbSNP Clinvar	16138322	403.77	T	C	PASS	0/1	34	None	None	None	0.42472	0.42470	0.40045				None None	None None None None	ABCC1\|0.091540799\|52.94%
	View	62408779_s7 mvar 62408779_S7.SAMTOOLS	16	rs35587 dbSNP Clinvar	16139714	875.77	T	C	PASS	0/1	59	None	None	None	0.42292	0.42290	0.39846				None None	None None None None	ABCC1\|0.091540799\|52.94%
	View	62408779_s7 mvar 62408779_S7.SAMTOOLS	16	rs35605 dbSNP Clinvar	16162019	6037.77	T	C	PASS	1/1	135	None	None	None	0.78654	0.78650	0.15359				None None	None None None None	ABCC1\|0.091540799\|52.94%
ABCC11
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	62408779_s7 mvar 62408779_S7.SAMTOOLS	16	rs16945916 dbSNP Clinvar	48201432	2443.77	T	C	PASS	0/1	159	None	None	None	0.17013	0.17010	0.22581	1.00	0.00	-0.99	None None	None None None None	ABCC11\|0.006558104\|83.99%
	View	62408779_s7 mvar 62408779_S7.SAMTOOLS	16	rs145986516 dbSNP Clinvar	48204843	1127.77	T	A	PASS	0/1	62	None	None	None	0.00699	0.00699	0.00023	0.00	0.00	3.51	None None	None None None None	ABCC11\|0.006558104\|83.99%
	View	62408779_s7 mvar 62408779_S7.SAMTOOLS	16	rs12443685 dbSNP Clinvar	48226479	703.77	C	T	PASS	0/1	44	None	None	None	0.13638	0.13640	0.14821				None None	None None None None	ABCC11\|0.006558104\|83.99%
	View	62408779_s7 mvar 62408779_S7.SAMTOOLS	16	rs8047091 dbSNP Clinvar	48248918	552.77	T	C	PASS	0/1	33	None	None	None	0.16993	0.16990	0.21051				None None	None None None None	ABCC11\|0.006558104\|83.99%
	View	62408779_s7 mvar 62408779_S7.SAMTOOLS	16	rs11866251 dbSNP Clinvar	48227862	1027.77	G	A	PASS	0/1	53	None	None	None	0.13878	0.13880	0.18766				None None	None None None None	ABCC11\|0.006558104\|83.99%
	View	62408779_s7 mvar 62408779_S7.SAMTOOLS	16	rs17822471 dbSNP Clinvar	48242379	1074.77	G	A	PASS	0/1	65	None	None	None	0.02456	0.02456	0.05130	0.05	0.79	2.45	None None	None None None None	ABCC11\|0.006558104\|83.99%
	View	62408779_s7 mvar 62408779_S7.SAMTOOLS	16	rs61739606 dbSNP Clinvar	48204078	976.77	T	A	PASS	0/1	58	None	None	None	0.05092	0.05092	0.09322	0.00	1.00	5.22	None None	None None None None	ABCC11\|0.006558104\|83.99%
ABCC12
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	62408779_s7 mvar 62408779_S7.SAMTOOLS	16	rs12149826 dbSNP Clinvar	48164777	347.77	T	C	PASS	0/1	31	None	None	None	0.12081	0.12080	0.22335				None None	None None None None	ABCC12\|0.070949421\|57.23%
	View	62408779_s7 mvar 62408779_S7.SAMTOOLS	16	rs7193955 dbSNP Clinvar	48122582	1081.77	G	A	PASS	0/1	82	None	None	None	0.59125	0.59130	0.40394	0.09	0.01	3.02	None None	None None None None	ABCC12\|0.070949421\|57.23%
ABCC6
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	62408779_s7 mvar 62408779_S7.SAMTOOLS	16	rs59757815 dbSNP Clinvar	16276341	1260.77	T	A	PASS	0/1	35	None	None	None	0.02296	0.02296	0.02609				None None	None None None None	ABCC6\|0.022547171\|72.9%
	View	62408779_s7 mvar 62408779_S7.SAMTOOLS	16	rs7500834 dbSNP Clinvar	16272670	4019.77	T	C	PASS	1/1	92	None	None	None	0.96446	0.96450	0.03548				None None	None None None None	ABCC6\|0.022547171\|72.9%