Mendel,MD | Dashboard

+ Filter Options

SELECT VARIANTS FROM		EXCLUDE VARIANTS FROM
INDIVIDUALS: SNP LIST:	GROUPS: SAVED GENE LIST: GENE LIST:	INDIVIDUALS: EXCLUDE SNP LIST:	EXCLUDE GROUPS: EXCLUDE SAVED GENE LIST: EXCLUDE GENE LIST:
SELECT INHERITANCE:
SELECT YOUR DISEASES:
OMIM:
CLINICAL GENOMICS DATABASE:
HGMD:

VARIANT EFFECT	FUNCTIONAL CLASS	IMPACT
MUTATION TYPE:	CHR: POS:

DBSNP BUILD: EXCLUDE VARIANTS AT VARISNP	READ DEPTH: QUAL:	VARIANTS PER GENE:
SHOW ONLY VARIANTS PRESENT IN COMMON GENES BETWEEN ALL THE INDIVIDUALS SELECTED SHOW ONLY VARIANTS AT EXACTLY SAME POSITION BETWEEN ALL THE INDIVIDUALS SELECTED EXCLUDE ALL VARIANTS PRESENT IN LATEST DBSNP BUILD SHOW ONLY VARIANTS PRESENT AT HGMD

FREQUENCIES

1000 GENOMES FREQUENCY	EXCLUDE ALL VARIANTS PRESENT IN 1000GENOMES	DBSNP FREQUENCY	EXCLUDE ALL VARIANTS PRESENT IN DBSNP	ESP6500 FREQUENCY	EXCLUDE ALL VARIANTS PRESENT IN EXOME SEQUENCING PROJECT

SCORES

SIFT SCORE	EXCLUDE VARIANTS WITHOUT SIFT SCORE	POLYPHEN2 SCORE	EXCLUDE VARIANTS WITHOUT POLYPHEN SCORE
CADD	EXCLUDE VARIANTS WITHOUT CADD SCORE	MCAP	EXCLUDE VARIANTS WITHOUT M-CAP SCORE

OPEN RESULT IN A NEW WINDOW

RESET FILTER | Save Config | Save Analysis

Genes:
AARS2, ABCC10, ABHD16A, ABT1, ACAT2, ADGB, ADTRP, AGPAT4, AIM1, AK9, AKAP12, AKAP7, AL583828.1, ANKRD6, ANKS1A, APOBEC2, ARHGAP18, ARID1B, ARMC12, ASCC3, ATAT1, ATF6B, B3GAT2, BACH2, BAI3, BCLAF1, BEND3, BMP5, BMP6, BRPF3, BTN1A1, BTN2A2, BTN3A1, BTNL2, C4A, C4B, C6orf1, C6orf132, C6orf141, C6orf15, C6orf164, C6orf183, C6orf195, C6orf201, CAP2, CAPN11, CCDC170, CCHCR1, CCND3, CCR6, CD109, CD2AP, CDKAL1, CENPQ, CEP57L1, CEP85L, CITED2, CLDN20, CLPSL1, CLPSL2, CNKSR3, CNPY3, COL10A1, COL12A1, COL19A1, COL21A1, COL9A1, COQ3, CPNE5, CTGF, CUL7, CUL9, CYP39A1, DAAM2, DACT2, DCBLD1, DCDC2, DDO, DDX39B, DDX43, DEF6, DLK2, DNAH8, DPCR1, DSE, DSP, DST, DUSP22, ECT2L, EDN1, EEF1A1, EEF1E1, ELOVL2, ENPP1, ENPP4, ENPP5, EPB41L2, EPHA7, ESR1, ETV7, EYA4, EYS, F13A1, FAM120B, FAM135A, FAM162B, FAM217A, FAM26D, FAM65B, FAM83B, FANCE, FAXC, FBXL4, FBXO30, FBXO5, FGD2, FHL5, FIG4, FNDC1, FOXO3, FOXP4, FOXQ1, FRMD1, FRS3, FUCA2, FUT9, GABRR1, GABRR2, GCLC, GCNT2, GFRAL, GJE1, GLO1, GLP1R, GLYATL3, GPLD1, GPR111, GPR115, GPR116, GPR126, GPR31, GPR63, GPRC6A, GRIK2, GRM1, GSTA1, GSTA2, GSTA5, GUCA1B, HACE1, HBS1L, HCRTR2, HDGFL1, HECA, HFE, HINT3, HIST1H1C, HIST1H1T, HIST1H2AB, HIST1H2AC, HIST1H2BE, HIST1H2BF, HIST1H2BK, HIST1H3C, HIST1H4B, HIST1H4C, HIST1H4H, HIVEP1, HIVEP2, HLA-A, HLA-B, HLA-C, HLA-DPA1, HLA-DPB1, HLA-DQA1, HLA-DQB1, HLA-DQB2, HLA-DRB1, HLA-DRB5, HLA-G, HMGA1, HMGN4, HSP90AB1, HUS1B, IFNGR1, IGF2R, IL20RA, IMPG1, IP6K3, IRAK1BP1, ITPR3, IYD, JARID2, KATNA1, KCNK16, KCNK17, KDM1B, KHDC3L, KHDRBS2, KIAA0319, KIAA0408, KIAA1244, KIAA1586, KIAA1919, KIF13A, KIF25, KIF6, KIFC1, KLHL31, KLHL32, L3MBTL3, LACE1, LAMA2, LAMA4, LATS1, LCA5, LMBRD1, LPA, LRFN2, LRRC16A, LYRM2, LYRM4, MAK, MAN1A1, MANEA, MAP3K4, MAP3K5, MAPK13, MB21D1, MCM9, MDC1, MDGA1, MDN1, ME1, MEP1A, MICAL1, MLIP, MLLT4, MLN, MMS22L, MOCS1, MOG, MOXD1, MRPL14, MRPL18, MRPS10, MRS2, MTHFD1L, MTRF1L, MTRNR2L9, MUT, MYLIP, NCOA7, NCR2, NDUFAF4, NFKBIE, NHSL1, NKAPL, NOTCH4, NOX3, NQO2, NT5E, NUP153, NUP43, OARD1, OFCC1, OOEP, OPRM1, OR2H1, OR2J2, OR2W1, PBX2, PCMT1, PERP, PEX6, PHF3, PHIP, PI16, PKHD1, PLA2G7, PLEKHG1, PLG, PNLDC1, PNPLA1, PNRC1, POM121L2, PPARD, PPIL1, PPP1R18, PPP1R3G, PRIM2, PRL, PRPF4B, PRPH2, PRR18, PRRC2A, PRSS35, PSMB1, PSMG4, PTCHD4, PTCRA, PTK7, PTPRK, PXDC1, QRSL1, RAB44, RAET1E, RAET1G, RAET1L, RANBP9, REPS1, REV3L, RGL2, RIMS1, RIOK1, RIPK1, RNF217, RNF8, RNGTT, ROS1, RP1-139D8.6, RP11-257K9.8, RP11-514O12.4, RPL7L1, RPS6KA2, RREB1, RSPO3, RTN4IP1, SASH1, SCML4, SEC63, SENP6, SFT2D1, SGK1, SHPRH, SLC17A1, SLC17A2, SLC17A3, SLC17A4, SLC18B1, SLC22A1, SLC22A16, SLC22A2, SLC22A23, SLC22A3, SLC22A7, SLC25A27, SLC26A8, SLC35B2, SLC35B3, SMAP1, SMLR1, SMOC2, SMPD2, SMPDL3A, SNAP91, SNRNP48, SOD2, SOGA3, SOX4, SPATS1, SRPK1, STMND1, STXBP5, SUMO4, SYCP2L, SYNE1, SYNJ2, SYTL3, T, TAAR1, TAAR5, TAAR9, TAF8, TBC1D22B, TBC1D32, TBCC, TBP, TBX18, TCP10, TCP10L2, TCTE1, TDP2, TDRD6, TFAP2A, TFB1M, TFEB, THBS2, THEMIS, TIAM2, TINAG, TMEM151B, TMEM244, TMEM63B, TNXB, TPBG, TPMT, TRAF3IP2, TRDN, TREML2, TREML4, TRERF1, TSPYL4, TTBK1, TTK, TTLL2, TUBB2A, TULP1, TULP4, TXLNB, TXNDC5, UBR2, UFL1, ULBP2, UNC5CL, UNC93A, USP45, USP49, UTRN, VEGFA, VNN1, VNN2, VNN3, WDR27, WISP3, XPO5, YIPF3, ZBTB2, ZBTB24, ZC3H12D, ZDHHC14, ZNF184, ZNF318, ZNF322, ZNF76,

+ Genes associated with diseases 96

Genes at Omim

AARS2, ACAT2, ARID1B, BTNL2, C4A, C4B, CD2AP, CITED2, CNPY3, COL10A1, COL12A1, COL9A1, CUL7, DCDC2, DSE, DSP, DST, EDN1, ENPP1, ESR1, EYA4, EYS, F13A1, FANCE, FBXL4, FIG4, GCLC, GCNT2, GRIK2, GRM1, GUCA1B, HACE1, HFE, HIVEP2, HLA-A, HLA-B, HLA-C, HLA-DPB1, HLA-DQA1, HLA-DQB1, HLA-DRB1, HLA-G, HMGA1, IFNGR1, IGF2R, IMPG1, ITPR3, IYD, KHDC3L, LAMA2, LAMA4, LCA5, LMBRD1, LPA, LYRM4, MAK, MCM9, MOCS1, MOG, MUT, NDUFAF4, NQO2, NT5E, PEX6, PHIP, PLA2G7, PLG, PNPLA1, PRPH2, REPS1, RIMS1, RIPK1, RTN4IP1, SASH1, SEC63, SLC17A3, SLC26A8, SMOC2, SOD2, SUMO4, SYNE1, T, TBP, TBX18, TDP2, TFAP2A, THBS2, TNXB, TPMT, TRAF3IP2, TRDN, TUBB2A, TULP1, VNN1, WISP3, ZBTB24,

AARS2	Combined oxidative phosphorylation deficiency 8, 614096 (3) Leukoencephalopathy, progressive, with ovarian failure, 615889 (3)
ACAT2	?ACAT2 deficiency, 614055 (1)
ARID1B	Coffin-Siris syndrome 1, 135900 (3)
BTNL2	{Sarcoidosis, susceptibility to, 2}, 612387 (3)
C4A	C4a deficiency, 614380 (3) [Blood group, Rodgers], 614374 (3)
C4B	C4B deficiency, 614379 (3)
CD2AP	Glomerulosclerosis, focal segmental, 3, 607832 (3)
CITED2	Atrial septal defect 8, 614433 (3) Ventricular septal defect 2, 614431 (3)
CNPY3	Epileptic encephalopathy, early infantile, 60, 617929 (3)
COL10A1	Metaphyseal chondrodysplasia, Schmid type, 156500 (3)
COL12A1	Bethlem myopathy 2, 616471 (3) ?Ullrich congenital muscular dystrophy 2, 616470 (3)
COL9A1	?Epiphyseal dysplasia, multiple, 6, 614135 (3) Stickler syndrome, type IV, 614134 (3)
CUL7	3-M syndrome 1, 273750 (3)
DCDC2	?Deafness, autosomal recessive 66, 610212 (3) Nephronophthisis 19, 616217 (3) Sclerosing cholangitis, neonatal, 617394 (3)
DSE	Ehlers-Danlos syndrome, musculocontractural type 2, 615539 (3)
DSP	Arrhythmogenic right ventricular dysplasia 8, 607450 (3) Cardiomyopathy, dilated, with woolly hair and keratoderma, 605676 (3) Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, 615821 (3) Epidermolysis bullosa, lethal acantholytic, 609638 (3) Keratosis palmoplantaris striata II, 612908 (3) Skin fragility-woolly hair syndrome, 607655 (3)
DST	Epidermolysis bullosa simplex, autosomal recessive 2, 615425 (3) ?Neuropathy, hereditary sensory and autonomic, type VI, 614653 (3)
EDN1	{High density lipoprotein cholesterol level QTL 7} (3) Auriculocondylar syndrome 3, 615706 (3) Question mark ears, isolated, 612798 (3)
ENPP1	Arterial calcification, generalized, of infancy, 1, 208000 (3) Cole disease, 615522 (3) Hypophosphatemic rickets, autosomal recessive, 2, 613312 (3) {Obesity, susceptibility to}, 601665 (3) {Diabetes mellitus, non-insulin-dependent, susceptibility to}, 125853 (3)
ESR1	{HDL response to hormone replacement, augmented} (3) Breast cancer, somatic, 114480 (3) {Migraine, susceptibility to}, 157300 (3) {Myocardial infarction, susceptibility to}, 608446 (3) Estrogen resistance, 615363 (3) {Atherosclerosis, susceptibility to} (3)
EYA4	Deafness, autosomal dominant 10, 601316 (3) ?Cardiomyopathy, dilated, 1J, 605362 (3)
EYS	Retinitis pigmentosa 25, 602772 (3)
F13A1	Factor XIIIA deficiency, 613225 (3) {Myocardial infarction, protection against}, 608446 (3) {Venous thrombosis, protection against}, 188050 (3)
FANCE	Fanconi anemia, complementation group E, 600901 (3)
FBXL4	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type), 615471 (3)
FIG4	Amyotrophic lateral sclerosis 11, 612577 (3) Charcot-Marie-Tooth disease, type 4J, 611228 (3) ?Polymicrogyria, bilateral temporooccipital, 612691 (3) Yunis-Varon syndrome, 216340 (3)
GCLC	Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency, 230450 (3) {Myocardial infarction, susceptibility to}, 608446 (3)
GCNT2	Adult i phenotype without cataract, 110800 (3) Cataract 13 with adult i phenotype, 116700 (3) [Blood group, Ii], 110800 (3)
GRIK2	Mental retardation, autosomal recessive, 6, 611092 (3)
GRM1	Spinocerebellar ataxia 44, 617691 (3) Spinocerebellar ataxia, autosomal recessive 13, 614831 (3)
GUCA1B	Retinitis pigmentosa 48, 613827 (3)
HACE1	Spastic paraplegia and psychomotor retardation with or without seizures, 616756 (3)
HFE	Hemochromatosis, 235200 (3) {Microvascular complications of diabetes 7}, 612635 (3) {Porphyria cutanea tarda, susceptibility to}, 176100 (3) {Porphyria variegata, susceptibility to}, 176200 (3) [Transferrin serum level QTL2], 614193 (3) {Alzheimer disease, susceptibility to}, 104300 (3)
HIVEP2	Mental retardation, autosomal dominant 43, 616977 (3)
HLA-A	{Hypersensitivity syndrome, carbamazepine-induced, susceptibility to}, 608579 (3)
HLA-B	{Spondyloarthropathy, susceptibility to, 1}, 106300 (3) {Stevens-Johnson syndrome, susceptibility to}, 608579 (3) {Synovitis, chronic, susceptibility to} (3) {Toxic epidermal necrolysis, susceptibility to}, 608579 (3) {Abacavir hypersensitivity, susceptibility to} (3) {Drug-induced liver injury due to flucloxacillin} (3)
HLA-C	{HIV-1 viremia, susceptibility to}, 609423 (3) {Psoriasis susceptibility 1}, 177900 (3)
HLA-DPB1	{Beryllium disease, chronic, susceptibility to} (3)
HLA-DQA1	{Celiac disease, susceptibility to}, 212750 (3)
HLA-DQB1	{Multiple sclerosis, susceptibility to, 1}, 126200 (3) {Celiac disease, susceptibility to}, 212750 (3) {Creutzfeldt-Jakob disease, variant, resistance to}, 123400 (3)
HLA-DRB1	{Multiple sclerosis, susceptibility to, 1}, 126200 (3) {Sarcoidosis, susceptibility to, 1}, 181000 (3)
HLA-G	{Asthma, susceptibility to}, 600807 (2)
HMGA1	{Diabetes mellitus, noninsulin-dependent, susceptibility to}, 125853 (3)
IFNGR1	{H. pylori infection, susceptibility to}, 600263 (3) {Hepatitis B virus infection, susceptibility to}, 610424 (3) Immunodeficiency 27A, mycobacteriosis, AR, 209950 (3) Immunodeficiency 27B, mycobacteriosis, AD, 615978 (3) {Tuberculosis infection, protection against}, 607948 (3) {Tuberculosis, susceptibility to}, 607948 (3)
IGF2R	Hepatocellular carcinoma, somatic, 114550 (3)
IMPG1	Macular dystrophy, vitelliform, 4, 616151 (3)
ITPR3	{Diabetes, type 1, susceptibility to}, 222100 (2)
IYD	Thyroid dyshormonogenesis 4, 274800 (3)
KHDC3L	Hydatidiform mole, recurrent, 2, 614293 (3)
LAMA2	Muscular dystrophy, congenital, merosin deficient or partially deficient, 607855 (3) Muscular dystrophy, limb-girdle, autosomal recessive 23, 618138 (3)
LAMA4	Cardiomyopathy, dilated, 1JJ, 615235 (3)
LCA5	Leber congenital amaurosis 5, 604537 (3)
LMBRD1	Methylmalonic aciduria and homocystinuria, cblF type, 277380 (3)
LPA	[LPA deficiency, congenital] (3) {Coronary artery disease, susceptibility to} (1)
LYRM4	?Combined oxidative phosphorylation deficiency 19, 615595 (3)
MAK	Retinitis pigmentosa 62, 614181 (3)
MCM9	Ovarian dysgenesis 4, 616185 (3)
MOCS1	Molybdenum cofactor deficiency A, 252150 (3)
MOG	?Narcolepsy 7, 614250 (3)
MUT	Methylmalonic aciduria, mut(0) type, 251000 (3)
NDUFAF4	Mitochondrial complex I deficiency, nuclear type 15, 618237 (3)
NQO2	{?Breast cancer susceptibility}, 114480 (1)
NT5E	Calcification of joints and arteries, 211800 (3)
PEX6	Heimler syndrome 2, 616617 (3) Peroxisome biogenesis disorder 4A (Zellweger), 614862 (3) Peroxisome biogenesis disorder 4B, 614863 (3)
PHIP	Developmental delay, intellectual disability, obesity, and dysmorphic features, 617991 (3)
PLA2G7	Platelet-activating factor acetylhydrolase deficiency, 614278 (3) {Asthma, susceptibility to}, 600807 (3) {Atopy, susceptibility to}, 147050 (3)
PLG	Dysplasminogenemia, 217090 (3) Plasminogen deficiency, type I, 217090 (3)
PNPLA1	Ichthyosis, congenital, autosomal recessive 10, 615024 (3)
PRPH2	Choroidal dystrophy, central areolar 2, 613105 (3) Leber congenital amaurosis 18, 608133 (3) Macular dystrophy, patterned, 1, 169150 (3) Macular dystrophy, vitelliform, 3, 608161 (3) Retinitis pigmentosa 7 and digenic form, 608133 (3) Retinitis punctata albescens, 136880 (3)
REPS1	?Neurodegeneration with brain iron accumulation 7, 617916 (3)
RIMS1	Cone-rod dystrophy 7, 603649 (3)
RIPK1	Immunodeficiency 57, 618108 (3)
RTN4IP1	Optic atrophy 10 with or without ataxia, mental retardation, and seizures, 616732 (3)
SASH1	Dyschromatosis universalis hereditaria 1, 127500 (3) ?Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma, 618373 (3)
SEC63	Polycystic liver disease 2, 617004 (3)
SLC17A3	{Gout susceptibility 4}, 612671 (3) [Uric acid concentration, serum, QTL4], 612671 (3)
SLC26A8	Spermatogenic failure 3, 606766 (3)
SMOC2	Dentin dysplasia, type I, with microdontia and misshapen teeth, 125400 (3)
SOD2	{Microvascular complications of diabetes 6}, 612634 (3)
SUMO4	{Diabetes mellitus, insulin-dependent, 5}, 600320 (3)
SYNE1	Emery-Dreifuss muscular dystrophy 4, autosomal dominant, 612998 (3) Spinocerebellar ataxia, autosomal recessive 8, 610743 (3)
T	{Neural tube defects, susceptibility to}, 182940 (3) Sacral agenesis with vertebral anomalies, 615709 (3)
TBP	{Parkinson disease, susceptibility to}, 168600 (3) Spinocerebellar ataxia 17, 607136 (3)
TBX18	Congenital anomalies of kidney and urinary tract 2, 143400 (3)
TDP2	Spinocerebellar ataxia, autosomal recessive 23, 616949 (3)
TFAP2A	Branchiooculofacial syndrome, 113620 (3)
THBS2	{Lumbar disc herniation, susceptibility to}, 603932 (3)
TNXB	Ehlers-Danlos syndrome, classic-like, 1 606408 (3) Vesicoureteral reflux 8, 615963 (3)
TPMT	{Thiopurines, poor metabolism of, 1}, 610460 (3)
TRAF3IP2	{Psoriasis susceptibility 13}, 614070 (3) ?Candidiasis, familial, 8, 615527 (3)
TRDN	Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness, 615441 (3)
TUBB2A	Cortical dysplasia, complex, with other brain malformations 5, 615763 (3)
TULP1	Leber congenital amaurosis 15, 613843 (3) Retinitis pigmentosa 14, 600132 (3)
VNN1	[High density lipoprotein cholesterol level QTL 8] (3)
WISP3	Arthropathy, progressive pseudorheumatoid, of childhood, 208230 (3) Spondyloepiphyseal dysplasia tarda with progressive arthropathy, 208230 (3)
ZBTB24	Immunodeficiency-centromeric instability-facial anomalies syndrome 2, 614069 (3)

Genes at Clinical Genomics Database

AARS2, ARID1B, C4A, C4B, CD2AP, CITED2, COL10A1, COL12A1, COL9A1, CUL7, DCDC2, DSE, DSP, DST, EDN1, ENPP1, ESR1, EYA4, EYS, F13A1, FAM65B, FANCE, FBXL4, FIG4, GCLC, GCNT2, GRIK2, GRM1, GUCA1B, HACE1, HFE, HLA-A, HLA-B, IFNGR1, IMPG1, IYD, KHDC3L, LAMA2, LAMA4, LCA5, LMBRD1, LPA, LYRM4, MAK, MCM9, MOCS1, MOG, MUT, NDUFAF4, NT5E, PEX6, PKHD1, PLA2G7, PLG, PNPLA1, PRPH2, RIMS1, RTN4IP1, SEC63, SLC26A8, SMOC2, SYNE1, T, TBP, TBX18, TDP2, TFAP2A, TNXB, TPMT, TRAF3IP2, TRDN, TUBB2A, TULP1, WISP3, ZBTB24,

AARS2	Leukoencephalopathy, progressive, with ovarian failure
ARID1B	Mental retardation, autosomal dominant, 12 Coffin-Siris syndrome 1
C4A	Blood group, Chido/Rodgers system
C4B	Complement component 4B deficiency
CD2AP	Focal segmental glomerulosclerosis 3
CITED2	Atrial septal defect 8 Ventricular septal defect 2
COL10A1	Metaphyseal chondrodysplasia, Schmid type
COL12A1	Bethlem myopathy 2 Ullrich congenital muscular dystrophy 2
COL9A1	Stickler syndrome, type IV
CUL7	Three M syndrome 1 Yakut short stature syndrome
DCDC2	Deafness, autosomal recessive 66
DSE	Ehlers-Danlos syndrome, musculocontractural type 2
DSP	Arrhythmogenic right ventricular dysplasia, familial 8 Cardiomyopathy, dilated, with wooly hair and keratoderma Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis
DST	Neuropathy, hereditary sensory and autonomic, type VI
EDN1	Dominant Isolated Question-Mark Ears Auriculocondylar Syndrome 3
ENPP1	Hypophosphatemic rickets, autosomal recessive 2 Arterial calcification, generalized, of infancy, 1
ESR1	Estrogen resistance
EYA4	Cardiomyopathy, dilated, 1J
EYS	Retitinis pigmentosa 25
F13A1	Factor XIIIA deficiency
FAM65B	Deafness, autosomal recessive 104
FANCE	Fanconi anemia, complementation group E
FBXL4	Mitochondrial DNA depletion syndrome 13
FIG4	Amyotrophic lateral sclerosis 11 Charcot-Marie Tooth disease, autosomal recessive, type 4J Polymicrogyria, bilateral occipital Yunis-Varon syndrome
GCLC	Gamma-glutamylcysteine synthetase deficiency
GCNT2	Blood group, Ii Adult i phenotype without cataract Cataract 13 with adult i phenotype
GRIK2	Mental retardation, autosomal recessive 6
GRM1	Spinocerebellar ataxia, autosomal recessive 13
GUCA1B	Retinitis pigmentosa 48
HACE1	Spastic paraplegia and psychomotor retardation with or without seizures
HFE	Hemochromatosis
HLA-A	Drug-induced toxicity, susceptibility to
HLA-B	Drug-induced toxicity, susceptibility to
IFNGR1	Immunodeficiency 27B Immunodeficiency 27A
IMPG1	Macular dystrophy, vitelliform, 4
IYD	Thyroid dyshormonogenesis 4
KHDC3L	Hydatidiform mole, recurrent, 2
LAMA2	Muscular dystrophy, congenital merosin-deficient, 1A Schizophrenia
LAMA4	Cardiomyopathy, dilated, 1JJ
LCA5	Leber congenital amaurosis 5
LMBRD1	Methylmalonic aciduria and homocystinuria, cblF type
LPA	Lipoprotein A deficiency, congenital
LYRM4	Combined oxidative phosphorylation deficiency 19
MAK	Retinitis pigmentosa 62
MCM9	Ovarian dysgenesis 4
MOCS1	Molybdenum cofactor deficiency, type A
MOG	Narcolepsy 7
MUT	Methylmalonic acidemia due to methylmalonyl-CoA mutase deficiency
NDUFAF4	Mitochondrial complex I deficiency
NT5E	Calcification of joints and arteries
PEX6	Heimler syndrome 2
PKHD1	Polycystic kidney disease, autosomal recessive
PLA2G7	Platelet-activating factor acetylhydrolase deficiency
PLG	Plasminogen deficiency, type I
PNPLA1	Ichthyosis, congenital, autosomal recessive 10
PRPH2	Choriodal dystrophy, central areolar 2 Retinitis punctata albescens Macular dystrophy, vitelliform 3 Macula dystrophy, patterned 1 Retinitis pigmentosa 7
RIMS1	Cone-rod dystrophy 7
RTN4IP1	Optic atrophy 10 with or without ataxia, mental retardation, and seizures
SEC63	Polycystic liver disease
SLC26A8	Spermatogenic failure 3
SMOC2	Dentin dysplasia, type I
SYNE1	Emery-Dreifuss muscular dystrophy 4, autosomal dominant Spinocerebellar ataxia, autosomal recessive 8
T	Chordoma
TBP	Spinocerebellar ataxia 17
TBX18	Congenital anomalies of the kidney and urinary tract 2
TDP2	Spinocerebellar ataxia, autosomal recessive 23
TFAP2A	Branchiooculofacial sydrome
TNXB	Vesicoureteral reflux 8 Ehlers-Danlos syndrome, autosomal recessive, due to tenascin X deficiency
TPMT	Thiopurine S-methyltransferase deficiency
TRAF3IP2	Candidiasis, familial 8
TRDN	Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness
TUBB2A	Cortical dysplasia, complex, with other brain malformations 5
TULP1	Leber congenital amaurosis 15 Retinitis pigmentosa 14
WISP3	Spondyloepiphyseal dysplasia tarda with progressive arthropathy Arthropathy, progressive pseudorheumatoid, of childhood
ZBTB24	Immunodeficiency-Centromeric Instability-Facial Anomalies 2

Genes at HGMD

Summary

Number of Variants: 12889
Number of Genes: 435

Export to: CSV

Page 1 of 129
next

Page 1 of 129
next

AARS2
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	gg_mutation_report	6	rs325008 dbSNP Clinvar	44268371	0.0	T	C	flt	1/1	98	SYNONYMOUS_CODING	LOW	None	0.86941	0.86940	0.12886				None None	None None None None	TMEM151B\|0.178433912\|39.22%,AARS2\|0.089485788\|53.33%
	View	gg_mutation_report	6	rs498512 dbSNP Clinvar	44269193	0.0	C	T	flt	0/1	82	SYNONYMOUS_CODING	LOW	None	0.58267	0.58270	0.32101				None None	None None None None	TMEM151B\|0.178433912\|39.22%,AARS2\|0.089485788\|53.33%
	View	gg_mutation_report	6	rs35623954 dbSNP Clinvar	44270870	0.0	C	T	flt	0/1	44	NON_SYNONYMOUS_CODING	MODERATE	None	0.01298	0.01298	0.03091	0.00	1.00		None None	None None None None	TMEM151B\|0.178433912\|39.22%,AARS2\|0.089485788\|53.33%
	View	gg_mutation_report	6	rs324136 dbSNP Clinvar	44275011	0.0	T	C	flt	1/1	71	NON_SYNONYMOUS_CODING	MODERATE	None	0.88898	0.88900	0.11341	0.96	0.00		None None	None None None None	TMEM151B\|0.178433912\|39.22%,AARS2\|0.089485788\|53.33%
ABCC10
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	gg_mutation_report	6	rs2125739 dbSNP Clinvar	43412865	0.0	T	C	flt	0/1	76	NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION	MODERATE	None	0.20008	0.20010	0.27603	0.52	0.00		None None	None None None None	ABCC10\|0.125839341\|46.49%
ABHD16A
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	gg_mutation_report	6	rs75509151 dbSNP Clinvar	31656514	0.0	C	T	flt	0/1	36	SYNONYMOUS_CODING	LOW	None	0.00759	0.00759	0.00462				None None	None None None None	ABHD16A\|0.218787308\|34.5%
ABT1
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	gg_mutation_report	6	rs3800302 dbSNP Clinvar	26597333	0.0	A	G	flt	0/1	31	SYNONYMOUS_CODING	LOW	None	0.70867	0.70870	0.35268				None None	None None None None	ABT1\|0.032342215\|68.44%
	View	gg_mutation_report	6	rs3800303 dbSNP Clinvar	26598188	0.0	A	G	flt	0/1	16	SYNONYMOUS_CODING	LOW	None	0.51617	0.51620	0.43918				None None	None None None None	ABT1\|0.032342215\|68.44%
ACAT2
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	gg_mutation_report	6	rs25683 dbSNP Clinvar	160196343	0.0	A	G	flt	0/1	40	NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION	MODERATE	None	0.36522	0.36520	0.45433	0.04	0.02		None None	None None None None	ACAT2\|0.090493467\|53.12%
	View	gg_mutation_report	6	.	160183131	0.0	C	G	flt	0/1	144	None	None	None							None None	None None None None	SOD2\|0.992264909\|1%,ACAT2\|0.090493467\|53.12%
	View	gg_mutation_report	6	rs3465 dbSNP Clinvar	160198395	0.0	G	A	flt	0/1	127	SYNONYMOUS_CODING	LOW	None	0.23522	0.23520	0.31955				None None	None None None None	ACAT2\|0.090493467\|53.12%
ADGB
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	gg_mutation_report	6	rs259391 dbSNP Clinvar	147106841	0.0	A	G	flt	0/1	68	SYNONYMOUS_CODING	LOW	None	0.54752	0.54750	0.45749				None None	None None None None	ADGB\|0.008962502\|81.7%
	View	gg_mutation_report	6	rs9647637 dbSNP Clinvar	147067093	0.0	C	T	flt	0/1	167	SYNONYMOUS_CODING	LOW	None	0.16054	0.16050	0.21485				None None	None None None None	ADGB\|0.008962502\|81.7%
	View	gg_mutation_report	6	rs3747756 dbSNP Clinvar	147049868	0.0	G	A	flt	0/1	60	SYNONYMOUS_CODING	LOW	None	0.29792	0.29790	0.23544				None None	None None None None	ADGB\|0.008962502\|81.7%
ADTRP
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	gg_mutation_report	6	rs2076185 dbSNP Clinvar	11723636	0.0	C	T	flt	0/1	148	NON_SYNONYMOUS_CODING	MODERATE	None	0.15755	0.15750	0.04275	1.00	0.00		None None	None None None None	ADTRP\|0.023894479\|72.25%
AGPAT4
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	gg_mutation_report	6	rs3734462 dbSNP Clinvar	161557662	0.0	G	A	flt	1/1	73	SYNONYMOUS_CODING	LOW	None	0.13718	0.13720	0.14186				None None	None None None None	AGPAT4\|0.05231474\|61.98%