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Genes:
AARS, ABAT, ABCA3, ABCC1, ABCC11, ABCC12, ABCC6, AC004381.6, AC135048.1, ACD, ACSF3, ACSM1, ACSM2A, ACSM2B, ACSM3, ACSM5, ADAD2, ADAMTS18, ADCY7, ADCY9, AGRP, ALG1, ANKRD11, ANKS3, ANKS4B, AP1G1, APOBR, AQP8, ARMC5, ASPHD1, ATF7IP2, ATMIN, ATP2A1, ATP2C2, ATXN2L, AXIN1, BAIAP3, BANP, BBS2, BCAR1, BCKDK, BCMO1, BFAR, C16orf45, C16orf46, C16orf59, C16orf62, C16orf71, C16orf89, C16orf95, C16orf96, CACNA1H, CAPN15, CAPNS2, CARHSP1, CASKIN1, CCDC102A, CCDC135, CCDC154, CCDC64B, CCDC79, CCL22, CCP110, CD19, CDH11, CDH13, CDH15, CDH3, CDH5, CDH8, CDIP1, CDT1, CENPBD1, CENPN, CENPT, CES1, CES5A, CETP, CFDP1, CHD9, CHST5, CHTF18, CIITA, CIRH1A, CLCN7, CLDN6, CLEC18A, CLEC18B, CLEC3A, CLUAP1, CMTR2, CNGB1, CNOT1, CNTNAP4, COG4, COG8, COQ7, CORO1A, CORO7-PAM16, COX4I1, COX6A2, CPNE2, CPPED1, CRAMP1L, CRISPLD2, CRYM, CTB-134H23.2, CTD-3088G3.8, CTRB2, CTRL, CTU2, CYB5B, CYBA, CYLD, DBNDD1, DCUN1D3, DDX28, DEF8, DHODH, DHX38, DNAAF1, DNAH3, DNAJA3, DNASE1, DNASE1L2, DPEP2, DPEP3, DUS2, DYNLRB2, E2F4, E4F1, EARS2, EDC4, EEF2K, ELMO3, EME2, EMP2, ERCC4, ERI2, FA2H, FAHD1, FAM57B, FAM86A, FANCA, FBXO31, FLYWCH1, FOPNL, FOXC2, FUS, GALNS, GAS8, GCSH, GDE1, GDPD3, GFER, GGA2, GLG1, GLIS2, GLYR1, GNAO1, GOT2, GPR139, GPR56, GRIN2A, GSE1, GSG1L, GSPT1, HAGH, HBQ1, HEATR3, HMOX2, HPR, HS3ST4, HS3ST6, HSD11B2, HSD17B2, HSD3B7, HYDIN, IFT140, IGFALS, IL27, IL32, IL34, IL4R, IRF8, IRX3, IRX6, IST1, ITFG3, ITGAD, ITGAL, ITGAM, ITGAX, JPH3, KAT8, KATNB1, KCTD19, KDM8, KIAA0430, KIAA0556, KIAA0895L, KIF22, KIFC3, KLHL36, KREMEN2, LA16c-431H6.6, LCAT, LCMT1, LITAF, LPCAT2, LRRC36, LUC7L, MAPK8IP3, MBTPS1, MC1R, MEFV, MEIOB, METTL22, MKL2, MLKL, MMP2, MON1B, MPHOSPH6, MRPL28, MT1A, MT1M, MT4, MTHFSD, MVD, MYH11, MYLK3, NAA60, NAE1, NAGPA, NDE1, NDRG4, NFATC3, NLRC3, NLRC5, NME3, NOB1, NOD2, NOMO1, NOMO2, NOMO3, NPIPA7, NPIPB11, NPIPB15, NPIPB3, NPIPB4, NPIPB5, NPIPB8, NPRL3, NPW, NQO1, NUBP2, NUDT7, NUP93, OGFOD1, OR1F1, OR2C1, ORAI3, OSGIN1, PABPN1L, PAPD5, PARD6A, PDF, PDIA2, PDILT, PDPR, PHKB, PHLPP2, PIEZO1, PKD1L2, PLA2G15, PLCG2, PLEKHG4, PMFBP1, POLR2C, POLR3K, PPL, PPP4C, PRDM7, PRKCB, PRM1, PRM3, PRMT7, PRRT2, PRSS21, PRSS36, PRSS54, PSMB10, PTX4, QPRT, RAB11FIP3, RAB26, RBL2, RFWD3, RHBDF1, RHOT2, RMI2, RNF166, RNF40, ROGDI, RP11-105C20.2, RP11-166B2.1, RP11-830F9.6, RPL13, RPS2, RPUSD1, RRAD, RSL1D1, SALL1, SCNN1B, SCNN1G, SEC14L5, SEPT1, SEPT12, SETD6, SEZ6L2, SF3B3, SH2B1, SHCBP1, SHISA9, SLC12A3, SLC12A4, SLC22A31, SLC38A7, SLC38A8, SLC5A11, SLC6A2, SLC7A6OS, SLC9A3R2, SLX4, SMG1, SMIM22, SMPD3, SNTB2, SNX29, SOX8, SPATA2L, SPG7, SPIRE2, SPNS1, SPSB3, SRCAP, SRL, SRRM2, SSTR5, SULT1A1, SULT1A2, SYCE1L, TAF1C, TANGO6, TAOK2, TAT, TBL3, TCEB2, TCF25, TEKT5, TELO2, TEPP, TERF2, TERF2IP, TFAP4, THAP11, THUMPD1, TLDC1, TMC7, TMED6, TMEM159, TMEM8A, TNFRSF12A, TNFRSF17, TNP2, TNRC6A, TPPP3, TPSB2, TPSG1, TRAP1, TRAPPC2L, TRIM72, TSNAXIP1, TUBB8P7, TXNDC11, UBE2I, UBFD1, UBN1, UMOD, UNKL, USP10, USP31, USP7, VAC14, VASN, VPS35, VPS4A, VPS9D1, VWA3A, WASH4P, WWOX, WWP2, XYLT1, ZC3H18, ZC3H7A, ZCCHC14, ZDHHC7, ZFHX3, ZFP90, ZFPM1, ZG16, ZKSCAN2, ZNF174, ZNF19, ZNF205, ZNF23, ZNF263, ZNF267, ZNF276, ZNF319, ZNF469, ZNF48, ZNF500, ZNF597, ZNF598, ZNF646, ZNF668, ZNF720, ZNF75A, ZNF778, ZP2, ZSCAN10, ZSCAN32,

+ Genes associated with diseases 109

Genes at Omim

AARS, ABAT, ABCA3, ABCC11, ABCC6, ACD, ACSF3, ACSM3, ADAMTS18, AGRP, ALG1, ANKRD11, ARMC5, ATP2A1, AXIN1, BBS2, BCKDK, CACNA1H, CD19, CDH11, CDH15, CDH3, CDT1, CES1, CETP, CIITA, CLCN7, CNGB1, COG4, COG8, COQ7, CORO1A, CRYM, CTU2, CYBA, CYLD, DHODH, DHX38, DNAAF1, DNASE1, EARS2, EMP2, ERCC4, FA2H, FANCA, FBXO31, FOXC2, FUS, GALNS, GAS8, GCSH, GFER, GLIS2, GNAO1, GRIN2A, HAGH, HSD11B2, HSD3B7, HYDIN, IFT140, IGFALS, IL4R, IRF8, JPH3, KATNB1, KIF22, LCAT, LITAF, MC1R, MEFV, MEIOB, MMP2, MVD, MYH11, NDE1, NOD2, NPRL3, NQO1, NUP93, PHKB, PIEZO1, PLCG2, PMFBP1, PRMT7, PRRT2, RFWD3, ROGDI, SALL1, SCNN1B, SCNN1G, SEPT12, SLC12A3, SLC38A8, SLC6A2, SLX4, SRCAP, SSTR5, TAT, TELO2, TNRC6A, TRAPPC2L, UMOD, VAC14, 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)
ACD	?Dyskeratosis congenita, autosomal dominant 6, 616553 (3) ?Dyskeratosis congenita, autosomal recessive 7, 616553 (3)
ACSF3	Combined malonic and methylmalonic aciduria, 614265 (3)
ACSM3	{?Hypertension, essential} (1)
ADAMTS18	Microcornea, myopic chorioretinal atrophy, and telecanthus, 615458 (3)
AGRP	{Leanness, inherited} (3) {Obesity, late-onset}, 601665 (3)
ALG1	Congenital disorder of glycosylation, type Ik, 608540 (3)
ANKRD11	KBG syndrome, 148050 (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)
CACNA1H	Hyperaldosteronism, familial, type IV, 617027 (3) {Epilepsy, childhood absence, susceptibility to, 6}, 611942 (3) {Epilepsy, idiopathic generalized, susceptibility to, 6}, 611942 (3)
CD19	Immunodeficiency, common variable, 3, 613493 (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)
COG8	Congenital disorder of glycosylation, type IIh, 611182 (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)
CYLD	Brooke-Spiegler syndrome, 605041 (3) Cylindromatosis, familial, 132700 (3) Trichoepithelioma, multiple familial, 1, 601606 (3)
DHODH	Miller syndrome, 263750 (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)
ERCC4	Fanconi anemia, complementation group Q, 615272 (3) ?XFE progeroid syndrome, 610965 (3) Xeroderma pigmentosum, group F, 278760 (3) Xeroderma pigmentosum, type F/Cockayne syndrome, 278760 (3)
FA2H	Spastic paraplegia 35, autosomal recessive, 612319 (3)
FANCA	Fanconi anemia, complementation group A, 227650 (3)
FBXO31	?Mental retardation, autosomal recessive 45, 615979 (3)
FOXC2	Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus, 153400 (3) Lymphedema-distichiasis syndrome, 153400 (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)
GFER	Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay, 613076 (3)
GLIS2	Nephronophthisis 7, 611498 (3)
GNAO1	Epileptic encephalopathy, early infantile, 17, 615473 (3) Neurodevelopmental disorder with involuntary movements, 617493 (3)
GRIN2A	Epilepsy, focal, with speech disorder and with or without mental retardation, 245570 (3)
HAGH	[Glyoxalase II deficiency], 614033 (1)
HSD11B2	Apparent mineralocorticoid excess, 218030 (3)
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)
IL4R	{AIDS, slow progression to}, 609423 (3) {Atopy, susceptibility to}, 147050 (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)
LCAT	Fish-eye disease, 136120 (3) Norum disease, 245900 (3)
LITAF	Charcot-Marie-Tooth disease, type 1C, 601098 (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)
MVD	Porokeratosis 7, multiple types, 614714 (3)
MYH11	Aortic aneurysm, familial thoracic 4, 132900 (3)
NDE1	Lissencephaly 4 (with microcephaly), 614019 (3) ?Microhydranencephaly, 605013 (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)
PHKB	Phosphorylase kinase deficiency of liver and muscle, autosomal recessive, 261750 (3)
PIEZO1	Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, 194380 (3) Lymphatic malformation 6, 616843 (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)
ROGDI	Kohlschutter-Tonz syndrome, 226750 (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)
SEPT12	Spermatogenic failure 10, 614822 (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)
SLX4	Fanconi anemia, complementation group P, 613951 (3)
SRCAP	Floating-Harbor syndrome, 136140 (3)
SSTR5	Somatostatin analog, resistance to (3)
TAT	Tyrosinemia, type II, 276600 (3)
TELO2	You-Hoover-Fong syndrome, 616954 (3)
TNRC6A	?Epilepsy, familial adult myoclonic, 6, 618074 (3)
TRAPPC2L	Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis, 618331 (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)
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, ACD, ACSF3, ADAMTS18, ALG1, ANKRD11, ARMC5, ATP2A1, AXIN1, BBS2, BCKDK, CD19, CDH15, CDH3, CDT1, CES1, CETP, CIITA, CLCN7, CNGB1, COG4, COG8, COQ7, CORO1A, CRYM, CYBA, CYLD, DHODH, DNAAF1, DNASE1, EARS2, EMP2, ERCC4, FA2H, FANCA, FBXO31, FOXC2, FUS, GALNS, GAS8, GCSH, GFER, GLIS2, GNAO1, GRIN2A, HSD11B2, HSD3B7, IFT140, IGFALS, IRF8, JPH3, KATNB1, KIAA0556, KIF22, LCAT, LITAF, MC1R, MEFV, MMP2, MVD, MYH11, NDE1, NOD2, PHKB, PIEZO1, PLCG2, PRRT2, ROGDI, SALL1, SCNN1B, SCNN1G, SEPT12, SLC12A3, SLC38A8, SLC6A2, SLX4, SPG7, SRCAP, SSTR5, TAT, TRAP1, UMOD, 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
ACD	Dyskeratosis congenita, autosomal dominant 6 Dyskeratosis congenita, autosomal recessive 7
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
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
CD19	Immunodeficiency, common variable 3
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
COG8	Congenital disorder of glycosylation, type IIh
COQ7	Coenzyme Q10 deficiency, primary 8
CORO1A	Immunodeficiency 8
CRYM	Deafness, autosomal dominant 40
CYBA	Chronic granulomatous disease, autosomal, due to deficiency of CYBA
CYLD	Spiegler-Brooke syndrome Trichoepithelioma, multiple familial, 1 Cylindromatosis, familial
DHODH	Postaxial acrofacial dysostosis (Miller syndrome)
DNAAF1	Ciliary dyskinesia, primary, 13
DNASE1	Macular dystrophy, North Carolina type
EARS2	Combined oxidative phosphorylation deficiency 12
EMP2	Nephrotic syndrome, type 10
ERCC4	Fanconi anemia, complementation group Q Xeroderma pigmentosum, group F
FA2H	Spastic paraplegia 35, autosomal recessive
FANCA	Fanconi anemia, complementation group A
FBXO31	Mental retardation 45, autosomal recessive
FOXC2	Lymphedema-distichiasis syndrome
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
GFER	Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay
GLIS2	Nephronophthisis 7
GNAO1	Epileptic encephalopathy, early infantile, 17
GRIN2A	Epilepsy, focal, with speech disorder and with or without mental retardation
HSD11B2	Cortisol 11-beta-ketoreductase deficiency
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
LCAT	Lecithin:cholesterol acyltransferase deficiency (Norum disease) Fish-eye disease
LITAF	Charcot-Marie-Tooth disease, type 1C
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
NDE1	Lissencephaly 4 Microhydranencephaly
NOD2	Blau syndrome Sarcoidosis, early-onset
PHKB	Glycogen storage disease IXb
PIEZO1	Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema
PLCG2	Familial cold autoinflammatory syndrome 3 (PLAID) Autoinflammation, antibody deficiency, and immune dysregulation syndrome (APLAID)
PRRT2	Episodic kinesigenic dyskinesia 1
ROGDI	Kohlschutter-Tonz syndrome
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
SEPT12	Spermatogenic failure 10
SLC12A3	Gitelman syndrome
SLC38A8	Foveal hypoplasia 2
SLC6A2	Orthostatic intolerance
SLX4	Fanconi anemia type P
SPG7	Spastic paraplegia 7, autosomal recessive
SRCAP	Floating-Harbor syndrome
SSTR5	Resistance to somatostatin treatment
TAT	Tyrosinemia, type II
TRAP1	Congenital abnormalities of the kidney and urinary tract VACTERL association
UMOD	Familial juvenile hyperuricemic nephropathy Glomerulocystic kidney disease with hyperuricemia and isosthenuria
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: 7021
Number of Genes: 433

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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	combined sample_70.variant31	16	rs4081753 dbSNP Clinvar	70287177	872.05	A	G	PASS	1/1	144	SYNONYMOUS_CODING	LOW	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	combined sample_70.variant31	16	rs1641022 dbSNP Clinvar	8868776	780.63	C	A	PASS	0/1	26	SYNONYMOUS_CODING	LOW	None	0.31749	0.31750	0.32261				None None	None None None None	ABAT\|0.163825558\|41.04%
	View	combined sample_70.variant31	16	rs1731017 dbSNP Clinvar	8839954	576.96	A	G	PASS	1/1	44	NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION	MODERATE	None	0.50080	0.50080	0.48599	0.61	0.00		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	combined sample_70.variant31	16	rs149532 dbSNP Clinvar	2331430	1846.76	A	G	PASS	1/1	106	SYNONYMOUS_CODING	LOW	None	0.90096	0.90100	0.13058				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	combined sample_70.variant31	16	rs246221 dbSNP Clinvar	16138322	709.62	T	C	PASS	0/1	76	SYNONYMOUS_CODING	LOW	None	0.42472	0.42470	0.40045				None None	None None None None	ABCC1\|0.091540799\|52.94%
	View	combined sample_70.variant31	16	rs35587 dbSNP Clinvar	16139714	2263.25	T	C	PASS	0/1	138	SYNONYMOUS_CODING	LOW	None	0.42292	0.42290	0.39846				None None	None None None None	ABCC1\|0.091540799\|52.94%
	View	combined sample_70.variant31	16	rs35605 dbSNP Clinvar	16162019	2416.14	T	C	PASS	1/1	285	SYNONYMOUS_CODING	LOW	None	0.78654	0.78650	0.15359				None None	None None None None	ABCC1\|0.091540799\|52.94%
	View	combined sample_70.variant31	16	rs4148356 dbSNP Clinvar	16177275	1389.79	G	A	PASS	0/1	89	NON_SYNONYMOUS_CODING	MODERATE	None	0.02196	0.02196	0.00921	1.00	0.01		None None	None None None None	ABCC1\|0.091540799\|52.94%
	View	combined sample_70.variant31	16	rs2230671 dbSNP Clinvar	16228242	328.7	G	A	PASS	0/1	140	SYNONYMOUS_CODING	LOW	None	0.17512	0.17510	0.21715				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	combined sample_70.variant31	16	rs12443685 dbSNP Clinvar	48226479	1717.23	C	T	PASS	0/1	87	SYNONYMOUS_CODING	LOW	None	0.13638	0.13640	0.14821				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	combined sample_70.variant31	16	rs7193955 dbSNP Clinvar	48122582	5351.41	G	A	PASS	1/1	165	NON_SYNONYMOUS_CODING	MODERATE	None	0.59125	0.59130	0.40394	0.09	0.01		None None	None None None None	ABCC12\|0.070949421\|57.23%
	View	combined sample_70.variant31	16	rs12149826 dbSNP Clinvar	48164777	1611.23	T	C	PASS	0/1	80	SYNONYMOUS_CODING	LOW	None	0.12081	0.12080	0.22335				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	combined sample_70.variant31	16	rs8058694 dbSNP Clinvar	16278863	699.61	G	T	PASS	0/1	100	NON_SYNONYMOUS_CODING	MODERATE	None	0.33267	0.33270	0.45306	0.59	0.00		None None	None None None None	ABCC6\|0.022547171\|72.9%
	View	combined sample_70.variant31	16	rs2238472 dbSNP Clinvar	16251599	1178.72	C	T	PASS	0/1	129	NON_SYNONYMOUS_CODING	MODERATE	None	0.18131	0.18130	0.22395	0.18	0.00		None None	None None None None	ABCC6\|0.022547171\|72.9%
	View	combined sample_70.variant31	16	rs2856585 dbSNP Clinvar	16263663	974.86	G	A	PASS	0/1	140	SYNONYMOUS_CODING	LOW	None	0.12400	0.12400	0.07829				None None	None None None None	ABCC6\|0.022547171\|72.9%
	View	combined sample_70.variant31	16	rs6416668 dbSNP Clinvar	16271357	1155.98	T	C	PASS	1/1	102	NON_SYNONYMOUS_CODING	MODERATE	None	0.96426	0.96430	0.03556	0.29	0.00		None None	None None None None	ABCC6\|0.022547171\|72.9%
	View	combined sample_70.variant31	16	rs7500834 dbSNP Clinvar	16272670	4560.61	T	C	PASS	1/1	170	SYNONYMOUS_CODING	LOW	None	0.96446	0.96450	0.03548				None None	None None None None	ABCC6\|0.022547171\|72.9%
	View	combined sample_70.variant31	16	rs8058696 dbSNP Clinvar	16278869	699.62	G	C	PASS	0/1	91	SYNONYMOUS_CODING	LOW	None	0.33267	0.33270	0.45306				None None	None None None None	ABCC6\|0.022547171\|72.9%
	View	combined sample_70.variant31	16	rs12931472 dbSNP Clinvar	16281007	134.04	A	G	PASS	1/1	51	NON_SYNONYMOUS_CODING	MODERATE	None	0.33946	0.33950	0.46398	0.77	0.00		None None	None None None None	ABCC6\|0.022547171\|72.9%