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Genes:
AARS, ABAT, ABCA3, ABCC1, ABCC11, ABCC12, ABCC6, AC004381.6, AC135048.1, ACSF3, ACSM1, ACSM2A, ACSM2B, ACSM5, ADAD2, ADCY7, ADCY9, ALG1, AMDHD2, ANKRD11, ANKS4B, AP1G1, APOBR, ARMC5, ASPHD1, ATF7IP2, ATMIN, ATP2A1, ATP2C2, ATXN1L, ATXN2L, BAIAP3, BANP, BBS2, BCAR1, BCKDK, BCL7C, BCMO1, BEAN1, BRD7, BRICD5, C16orf3, C16orf46, C16orf59, C16orf62, C16orf71, C16orf89, C16orf91, C16orf93, C16orf95, C16orf96, CACNA1H, CAPN15, CAPNS2, CARHSP1, CASP16, CCDC101, CCDC102A, CCDC135, CCDC154, CCDC64B, CCDC79, CCL22, CCP110, CD19, CDH1, CDH11, CDH13, CDH3, CDH5, CDIP1, CDT1, CDYL2, CENPBD1, CENPN, CES5A, CETP, CFDP1, CHST4, CHST6, CHTF18, CIITA, CLCN7, CLDN6, CLEC16A, CLEC18A, CLEC18B, CLEC18C, CLEC3A, CMC2, CMTR2, CNGB1, CNOT1, CNTNAP4, COG4, COQ7, COX4I1, COX6A2, CPPED1, CRAMP1L, CRISPLD2, CRYM, CTD-3088G3.8, CTRB1, CTRB2, CTU2, CYBA, CYLD, DBNDD1, DCTPP1, DCUN1D3, DDX19A, DDX28, DEF8, DHODH, DHX38, DNAAF1, DNAH3, DNAJA3, DNASE1, DOC2A, DPEP2, DUS2, E4F1, EARS2, EEF2K, EIF3C, ELMO3, ERCC4, ERI2, FA2H, FAM195A, FAM57B, FAM92B, FANCA, FBRS, FLJ00418, FUK, FUS, GALNS, GAN, GAS8, GCSH, GDPD3, GGA2, GINS2, GLG1, GLIS2, GLYR1, GNAO1, GNPTG, GOT2, GPR114, GPR139, GPR56, GPR97, GPRC5B, GRIN2A, GSE1, GSG1L, GSPT1, GTF3C1, HAGH, HAGHL, HAS3, HBA1, HBA2, HCFC1R1, HEATR3, HPR, HS3ST2, HS3ST4, HS3ST6, HSD17B2, HSD3B7, HYDIN, IGFALS, IGHV3OR16-13, IGHV3OR16-8, IL32, IL34, IL4R, INO80E, IRF8, IRX3, IRX5, IST1, ITGAD, ITGAL, ITGAM, ITGAX, ITPRIPL2, JPH3, KARS, KAT8, KATNB1, KCNG4, KIAA0430, KIAA0556, KIF22, KIFC3, KLHL36, KNOP1, KREMEN2, LAT, LCMT1, LITAF, LPCAT2, MAF, MAP1LC3B, MAPK3, MAPK8IP3, MARVELD3, MAZ, MBTPS1, MC1R, MEFV, MEIOB, METTL22, MLST8, MLYCD, MMP2, MMP25, MON1B, MPHOSPH6, MRPS34, MSLN, MSLNL, MSRB1, MT1A, MT1M, MT4, MTHFSD, MTSS1L, MVD, MYH11, MYLK3, N4BP1, NAA60, NAE1, NAGPA, NDRG4, NDUFAB1, NDUFB10, NECAB2, NFATC3, NHLRC4, NLRC3, NLRC5, NME3, NOB1, NOD2, NOMO1, NOMO2, NOXO1, NPIPB15, NPRL3, NPW, NQO1, NSMCE1, NUBP2, NUDT16L1, NUDT7, NUP93, OR1F1, OR2C1, ORAI3, OSGIN1, OTOA, PALB2, PAM16, PARN, PDIA2, PDILT, PDPK1, PDPR, PDXDC1, PGP, PHLPP2, PIEZO1, PKD1, PKD1L2, PLA2G10, PLA2G15, PLCG2, PMFBP1, POLR2C, POLR3K, PPL, PRDM7, PRKCB, PRM3, PRMT7, PRR14, PRR25, PRRT2, PRSS21, PRSS33, PRSS36, PRSS53, PRSS54, PTX4, QPRT, RAB11FIP3, RBBP6, RBL2, RFWD3, RGS11, RHBDF1, RHOT2, RNF166, RNF40, ROGDI, RP11-105C20.2, RP11-166B2.1, RP11-368I7.4, RP11-830F9.6, RPGRIP1L, RPL13, RPS2, RRAD, RRN3, RSL1D1, SALL1, SCNN1B, SCNN1G, SDR42E1, SDR42E2, SEC14L5, SEPT12, SETD1A, SETD6, SEZ6L2, SF3B3, SH2B1, SHCBP1, SHISA9, SLC12A3, SLC12A4, SLC22A31, SLC38A8, SLC5A11, SLC6A2, SLC7A5, SLC7A6OS, SLC9A3R2, SLX4, SMG1, SMIM22, SMPD3, SNN, SNX29, SOX8, SPATA2L, SPIRE2, SPNS1, SPSB3, SRCAP, SRL, SRRM2, SSTR5, STUB1, SULT1A1, SULT1A2, SYCE1L, TAF1C, TAOK2, TAT, TBC1D10B, TBL3, TCEB2, TCF25, TEKT5, TELO2, TEPP, TERF2IP, TFAP4, THAP11, THOC6, THUMPD1, TLDC1, TMC5, TMC7, TMEM159, TMEM231, TNFRSF12A, TNFRSF17, TNRC6A, TOX3, TPSAB1, TPSB2, TPSG1, TRAF7, TRAP1, TRIM72, TSC2, TUBB3, TXNDC11, UBALD1, UBE2I, UBN1, UMOD, UNKL, USP10, USP31, USP7, VAC14, VASN, VAT1L, VPS35, VPS9D1, VWA3A, WDR59, WFDC1, WWOX, WWP2, XPO6, XYLT1, ZC3H18, ZCCHC14, ZDHHC7, ZFHX3, ZFP90, ZFPM1, ZG16, ZG16B, ZNF174, ZNF19, ZNF205, ZNF23, ZNF267, ZNF276, ZNF319, ZNF423, ZNF469, ZNF48, ZNF500, ZNF597, ZNF598, ZNF629, ZNF646, ZNF668, ZNF720, ZNF75A, ZNF764, ZNF768, ZNF778, ZNF785, ZNRF1, ZP2, ZSCAN32,

+ Genes associated with diseases 114

Genes at Omim

AARS, ABAT, ABCA3, ABCC11, ABCC6, ACSF3, ALG1, ANKRD11, ARMC5, ATP2A1, BBS2, BCKDK, CACNA1H, CD19, CDH1, CDH11, CDH3, CDT1, CETP, CHST6, CIITA, CLCN7, CNGB1, COG4, COQ7, CRYM, CTU2, CYBA, CYLD, DHODH, DHX38, DNAAF1, DNASE1, EARS2, ERCC4, FA2H, FANCA, FUS, GALNS, GAN, GAS8, GCSH, GLIS2, GNAO1, GRIN2A, HAGH, HBA1, HBA2, HSD3B7, HYDIN, IGFALS, IL4R, IRF8, IRX5, JPH3, KARS, KATNB1, KIF22, LAT, LITAF, MAF, MC1R, MEFV, MEIOB, MLYCD, MMP2, MRPS34, MVD, MYH11, NOD2, NPRL3, NQO1, NUP93, OTOA, PALB2, PAM16, PARN, PIEZO1, PKD1, PLCG2, PMFBP1, PRMT7, PRRT2, RFWD3, ROGDI, RPGRIP1L, SALL1, SCNN1B, SCNN1G, SEPT12, SLC12A3, SLC38A8, SLC6A2, SLX4, SRCAP, SSTR5, STUB1, TAT, TELO2, THOC6, TMEM231, TNRC6A, TRAF7, TSC2, TUBB3, UMOD, VAC14, VPS35, WWOX, XYLT1, ZFHX3, ZNF423, 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)
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)
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)
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)
CDH3	Hypotrichosis, congenital, with juvenile macular dystrophy, 601553 (3) Ectodermal dysplasia, ectrodactyly, and macular dystrophy, 225280 (3)
CDT1	Meier-Gorlin syndrome 4, 613804 (3)
CETP	Hyperalphalipoproteinemia, 143470 (3) [High density lipoprotein cholesterol level QTL 10], 143470 (3)
CHST6	Macular corneal dystrophy, 217800 (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)
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)
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)
FUS	Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia, 608030 (3) Essential tremor, hereditary, 4, 614782 (3)
GALNS	Mucopolysaccharidosis IVA, 253000 (3)
GAN	Giant axonal neuropathy-1, 256850 (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)
GRIN2A	Epilepsy, focal, with speech disorder and with or without mental retardation, 245570 (3)
HAGH	[Glyoxalase II deficiency], 614033 (1)
HBA1	Heinz body anemias, alpha-, 140700 (3) Hemoglobin H disease, nondeletional, 613978 (3) Erythrocytosis, 7, 617981 (3) Methemoglobinemia, alpha type, 617973 (3) Thalassemias, alpha-, 604131 (3)
HBA2	Heinz body anemia, 140700 (3) Hemoglobin H disease, deletional and nondeletional, 613978 (3) Erythrocytosis 7, 617981 (3) Thalassemia, alpha-, 604131 (3)
HSD3B7	Bile acid synthesis defect, congenital, 1, 607765 (3)
HYDIN	Ciliary dyskinesia, primary, 5, 608647 (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)
IRX5	Hamamy syndrome, 611174 (3)
JPH3	Huntington disease-like 2, 606438 (3)
KARS	Deafness, autosomal recessive 89, 613916 (3) ?Charcot-Marie-Tooth disease, recessive intermediate, B, 613641 (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)
MLYCD	Malonyl-CoA decarboxylase deficiency, 248360 (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)
OTOA	Deafness, autosomal recessive 22, 607039 (3)
PALB2	Fanconi anemia, complementation group N, 610832 (3) {Pancreatic cancer, susceptibility to, 3}, 613348 (3) {Breast cancer, susceptibility to}, 114480 (3)
PAM16	Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type, 613320 (3)
PARN	Dyskeratosis congenita, autosomal recessive 6, 616353 (3) Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4, 616371 (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)
ROGDI	Kohlschutter-Tonz syndrome, 226750 (3)
RPGRIP1L	COACH syndrome, 216360 (3) Joubert syndrome 7, 611560 (3) Meckel syndrome 5, 611561 (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)
STUB1	?Spinocerebellar ataxia 48, 618093 (3) Spinocerebellar ataxia, autosomal recessive 16, 615768 (3)
TAT	Tyrosinemia, type II, 276600 (3)
TELO2	You-Hoover-Fong syndrome, 616954 (3)
THOC6	Beaulieu-Boycott-Innes syndrome, 613680 (3)
TMEM231	Joubert syndrome 20, 614970 (3) Meckel syndrome 11, 615397 (3)
TNRC6A	?Epilepsy, familial adult myoclonic, 6, 618074 (3)
TRAF7	Cardiac, facial, and digital anomalies with developmental delay, 618164 (3)
TSC2	Lymphangioleiomyomatosis, somatic, 606690 (3) ?Focal cortical dysplasia, type II, somatic, 607341 (3) Tuberous sclerosis-2, 613254 (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)
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)
ZNF423	Joubert syndrome 19, 614844 (3) Nephronophthisis 14, 614844 (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, ALG1, ANKRD11, ARMC5, ATP2A1, BBS2, BCKDK, BEAN1, CD19, CDH1, CDH3, CDT1, CETP, CHST6, CIITA, CLCN7, CNGB1, COG4, COQ7, CRYM, CYBA, CYLD, DHODH, DNAAF1, DNASE1, EARS2, ERCC4, FA2H, FANCA, FUS, GALNS, GAN, GAS8, GCSH, GLIS2, GNAO1, GNPTG, GRIN2A, HBA1, HBA2, HSD3B7, IGFALS, IRF8, JPH3, KARS, KATNB1, KIAA0556, KIF22, LITAF, MAF, MC1R, MEFV, MLYCD, MMP2, MVD, MYH11, NOD2, OTOA, PALB2, PAM16, PARN, PIEZO1, PKD1, PLCG2, PRRT2, ROGDI, RPGRIP1L, SALL1, SCNN1B, SCNN1G, SEPT12, SLC12A3, SLC38A8, SLC6A2, SLX4, SRCAP, SSTR5, STUB1, TAT, TMEM231, TRAP1, TSC2, TUBB3, UMOD, VPS35, WWOX, XYLT1, ZNF423, 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
ALG1	Congenital disorder of glycosylation, type Ik
ANKRD11	KBG syndrome
ARMC5	ACTH-independent macronodular adrenal hyperplasia 2
ATP2A1	Brody myopathy
BBS2	Bardet-Biedl syndrome 2 Retinitis pigmentosa 74
BCKDK	Branched-chain ketoacid dehydrogenase kinase deficiency
BEAN1	Spinocerebellar ataxia 31
CD19	Immunodeficiency, common variable 3
CDH1	CDH1-related cancer
CDH3	Hypotrichosis, congenital, with juvenile macular dystrophy Ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome
CDT1	Meier-Gorlin syndrome 4
CETP	Hyperalphalipoproteinemia 1
CHST6	Macular dystrophy, corneal, 1 Macular dystrophy, corneal, 2
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
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
ERCC4	Fanconi anemia, complementation group Q Xeroderma pigmentosum, group F
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)
GAN	Giant axonal neuropathy 1, autosomal recessive
GAS8	Ciliary dyskinesia, primary, 33
GCSH	Glycine encephalopathy
GLIS2	Nephronophthisis 7
GNAO1	Epileptic encephalopathy, early infantile, 17
GNPTG	Mucolipidosis III gamma
GRIN2A	Epilepsy, focal, with speech disorder and with or without mental retardation
HBA1	Alpha-thalassemia (Hemoglobin Bart syndrome) Alpha-thalassemia (Hemoglobin H disease)
HBA2	Alpha-thalassemia (Hemoglobin Bart syndrome) Alpha-thalassemia (Hemoglobin H disease)
HSD3B7	Bile acid synthesis defect, congenital, 1
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
KARS	Charcot-Marie-Tooth disease, recessive intermediate B
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
MLYCD	Malonyl-CoA decarboxylase deficiency
MMP2	Torg-Winchester syndrome Multicentric osteolysis, nodulosis, and arthropathy
MVD	Porokeratosis 7
MYH11	Aortic aneurysm, familial thoracic 4
NOD2	Blau syndrome Sarcoidosis, early-onset
OTOA	Deafness, autosomal recessive 22
PALB2	Breast cancer Pancreatic cancer, susceptibility to 3 Fanconi anemia, complementation group N
PAM16	Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type
PARN	Pulmonary fibrosis and/or bone marrow failure, telomere-related 4 Dyskeratosis congenita, autosomal recessive 6
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
ROGDI	Kohlschutter-Tonz syndrome
RPGRIP1L	Meckel syndrome 5 Joubert syndrome 7 COACH syndrome Retinal degeneration in ciliopathy, modifier of
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
SRCAP	Floating-Harbor syndrome
SSTR5	Resistance to somatostatin treatment
STUB1	Spinocerebellar ataxia, autosomal recessive 16
TAT	Tyrosinemia, type II
TMEM231	Joubert syndrome 20 Meckel syndrome 11
TRAP1	Congenital abnormalities of the kidney and urinary tract VACTERL association
TSC2	Tuberous sclerosis 2 Lymphangioleiomyomatosis
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
VPS35	Parkinson disease 17
WWOX	Epileptic encephalopathy, early infantile, 28 Spinocerebellar ataxia, autosomal recessive 12
XYLT1	Desbuquois dysplasia 2
ZNF423	Joubert syndrome 19 Nephronophthisis 14
ZNF469	Brittle cornea syndrome 1

Genes at HGMD

Summary

Number of Variants: 2569
Number of Genes: 451

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	ba exome	16	rs2070203 dbSNP Clinvar	70303580	724.0	G	A	.	0/1	226	SYNONYMOUS_CODING	LOW	None	0.42532	0.42530	0.49077				None None	None None None None	AARS\|0.341353977\|24.74%
	View	ba exome	16	rs4081753 dbSNP Clinvar	70287177	3070.0	A	G	.	1/1	383	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	ba exome	16	rs2229157 dbSNP Clinvar	8844389	753.0	C	T	.	0/1	272	SYNONYMOUS_CODING	LOW	None	0.10483	0.10480	0.08989				None None	None None None None	ABAT\|0.163825558\|41.04%
	View	ba exome	16	rs1731017 dbSNP Clinvar	8839954	703.0	A	G	.	0/1	218	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%
	View	ba exome	16	rs1641022 dbSNP Clinvar	8868776	531.0	C	A	.	0/1	151	SYNONYMOUS_CODING	LOW	None	0.31749	0.31750	0.32261				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	ba exome	16	rs149532 dbSNP Clinvar	2331430	2716.0	A	G	.	1/1	215	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	ba exome	16	rs35587 dbSNP Clinvar	16139714	668.0	T	C	.	0/1	148	SYNONYMOUS_CODING	LOW	None	0.42292	0.42290	0.39846				None None	None None None None	ABCC1\|0.091540799\|52.94%
	View	ba exome	16	rs246221 dbSNP Clinvar	16138322	625.0	T	C	.	0/1	172	SYNONYMOUS_CODING	LOW	None	0.42472	0.42470	0.40045				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	ba exome	16	rs12443685 dbSNP Clinvar	48226479	636.0	C	T	.	0/1	181	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	ba exome	16	rs7193955 dbSNP Clinvar	48122582	1165.0	G	A	.	1/1	94	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	ba exome	16	rs12149826 dbSNP Clinvar	48164777	473.0	T	C	.	0/1	114	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	ba exome	16	rs9930886 dbSNP Clinvar	16291983	382.0	A	G	.	0/1	175	SYNONYMOUS_CODING	LOW	None	0.28275	0.28270	0.31330				None None	None None None None	ABCC6\|0.022547171\|72.9%
	View	ba exome	16	rs7500834 dbSNP Clinvar	16272670	2021.0	T	C	.	1/1	156	SYNONYMOUS_CODING	LOW	None	0.96446	0.96450	0.03548				None None	None None None None	ABCC6\|0.022547171\|72.9%
	View	ba exome	16	.	16308201	0.0	G	C	.	0/1	8	NON_SYNONYMOUS_CODING	MODERATE	None				0.09	0.00		None None	None None None None	ABCC6\|0.022547171\|72.9%
	View	ba exome	16	rs6416668 dbSNP Clinvar	16271357	3070.0	T	C	.	1/1	313	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	ba exome	16	rs9940825 dbSNP Clinvar	16291971	389.0	C	T	.	0/1	183	SYNONYMOUS_CODING	LOW	None	0.23223	0.23220	0.30603				None None	None None None None	ABCC6\|0.022547171\|72.9%
	View	ba exome	16	rs8058694 dbSNP Clinvar	16278863	854.0	G	T	.	0/1	239	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	ba exome	16	rs8058696 dbSNP Clinvar	16278869	784.0	G	C	.	0/1	229	SYNONYMOUS_CODING	LOW	None	0.33267	0.33270	0.45306				None None	None None None None	ABCC6\|0.022547171\|72.9%
	View	ba exome	16	rs12931472 dbSNP Clinvar	16281007	572.0	A	G	.	0/1	176	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%