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:
ABCA4, ABCA9, ABCG8, AC068620.1, AC112693.2, ACACB, ACAD9, ACADVL, ADAMTS13, ADCK5, ADCY9, AL450307.1, AL590452.1, ALDH16A1, ALPP, ANKK1, ANKLE1, ANKRD17, ANKRD27, ANO9, APC, APOL3, ARHGAP33, ARVCF, ASIC1, ATM, ATP2C2, ATP9B, ATPAF1, ATR, ATRAID, AUH, AXIN2, BAI2, BAIAP3, BARD1, BCL2A1, BIRC5, BMP1, BMPR1A, BPIFB1, BRCA1, BRMS1, BRSK2, C2orf54, CACNA1S, CAPN12, CAST, CCDC135, CCDC18, CCHCR1, CCND1, CD276, CD2AP, CDC25C, CDC27, CDKN2A, CELA1, CELSR2, CEP78, CERS1, CHFR, CLCNKB, CLDND2, CLIP3, CLN3, CNOT3, COL18A1, COL2A1, CORO7-PAM16, CSF3R, CTD-3088G3.8, CTSB, DDHD1, DDIT3, DDX20, DENND4C, DENND5A, DES, DGCR14, DHX37, DISP2, DKKL1, DLG4, DLGAP2, DMD, DNAH10, DNAH12, DNAH14, DNAH17, DNM2, DOK2, DRD4, DTNA, DTX3L, DZIP1L, ECEL1, EFHB, EFS, EGF, EGLN1, EPB41, EPCAM, ESCO1, ESR1, FAM109A, FAM136A, FAM175A, FAM181B, FAM186A, FAM189A1, FAM46A, FAM86C1, FAN1, FANCD2, FANCM, FBLN2, FBN1, FBN3, FBRSL1, FDX1L, FLVCR2, FMNL1, FOCAD, GABRR2, GAREM, GBX1, GEN1, GFPT2, GJD2, GLCCI1, GP5, GPR161, GRIN2D, GSE1, GSPT1, GSX2, GXYLT2, HAND2, HAP1, HAPLN4, HECA, HHAT, HK2, HKDC1, HLA-B, HOMEZ, HOXB13, HRC, HUWE1, IFRD2, IGFN1, IGSF9, IL6ST, IRAK3, IRF7, JMJD7-PLA2G4B, JUP, KANK4, KCNAB2, KCNJ12, KCNMA1, KCNMB2, KDM3A, KIF17, KIF21B, KIF4A, KISS1, KLHDC7B, KLK5, KLK7, KRT81, KRTAP10-11, L1TD1, LAMA5, LAMC3, LIMCH1, LRIG2, LRP2, LRRC31, LRRFIP1, LYPD5, MAGEA1, MALRD1, MAP1B, MBTPS2, MCC, MED13, MESP2, METTL11B, METTL17, MFSD4, MSH2, MSH3, MSH6, MT-CYB, MT-ND1, MT-ND4, MT-ND6, MTMR1, MTMR11, MUC16, MUC2, MUC3A, MYCBPAP, MYH9, MYO10, MYO9B, NADSYN1, NALCN, NANS, NBN, NCAM1, NEO1, NF1, NNT, NOL10, NOP14, NOTUM, NOVA2, NRXN2, NSD1, ONECUT2, OR10H1, OR1L3, OR2T12, OR51I1, OR5H8P, OSBP2, OSBPL7, OXA1L, OXTR, PAFAH2, PALB2, PAPSS1, PCDHB7, PDDC1, PGR, PHB2, PHLDA1, PIH1D1, PKHD1, PLEC, PLEKHA6, PLEKHA7, PLEKHN1, PMS2, POLD1, POLDIP2, POLE, POU5F1, PP13004, PPHLN1, PPP1R1A, PRDX5, PRICKLE4, PRKAR1B, PRKCD, PRR12, PRR25, PRR5, PTCHD2, PTX4, R3HDM4, RABGGTA, RAD50, RAD51B, RAD51D, RASA3, RBM5, RBP1, RBPJ, REPIN1, RFC5, RINT1, RNF165, RNF213, RNF43, RNF44, RP11-1055B8.7, RP11-156E8.1, RP11-683L23.1, RP11-766F14.2, RPAP1, RPRD2, RUFY4, RUNDC3A, SCARB2, SCN10A, SDHA, SEC14L2, SEC14L3, SEC24A, SEMA6A, SEMA6B, SEMA6D, SEPT9, SERGEF, SH2D4B, SLC12A7, SLC22A18, SLC27A6, SLC29A3, SLC39A4, SLC45A4, SLC8A2, SLC8B1, SLCO3A1, SLIT3, SLITRK5, SMARCA4, SMG6, SMYD4, SOGA3, SPATA31D1, SPATA33, SPECC1, SRCAP, SRGAP1, SRSF2, SYN3, SYT11, TAMM41, TANGO2, TCN2, TERT, TET2, TGFBR2, TH, THUMPD3, TMCC3, TMCO3, TMED2, TMEM245, TMPRSS6, TNFRSF10B, TNK2, TRIM65, TSPO, TTC32, TTC40, TTC7B, TTLL7, TULP2, TXNRD3, UNC13A, UPK2, URB1, USP10, USP34, VPS37C, VPS8, WBP1L, WDR25, WDR86, WFIKKN2, WNT10B, WNT9A, WWOX, XAF1, XKR7, YY1AP1, ZBTB10, ZBTB40, ZC3H7A, ZFHX3, ZFYVE26, ZNF534, ZNF598, ZNF717, ZPBP2,

+ Genes associated with diseases 109

Genes at Omim

ABCA4, ABCG8, ACAD9, ACADVL, ADAMTS13, APC, ATM, ATR, AUH, AXIN2, BARD1, BMP1, BMPR1A, BRCA1, CACNA1S, CAST, CCND1, CD2AP, CDKN2A, CEP78, CERS1, CLCNKB, CLN3, COL18A1, COL2A1, CSF3R, CTSB, DDHD1, DENND5A, DES, DMD, DNM2, DRD4, DTNA, DZIP1L, ECEL1, EGF, EGLN1, EPB41, EPCAM, ESR1, FAN1, FANCD2, FANCM, FBN1, FDX1L, FLVCR2, GLCCI1, GRIN2D, HLA-B, HOXB13, HUWE1, IRAK3, IRF7, JUP, KCNMA1, KIF4A, KISS1, KRT81, LAMC3, LRIG2, LRP2, MBTPS2, MCC, MESP2, MSH2, MSH3, MSH6, MYH9, MYO9B, NALCN, NANS, NBN, NF1, NNT, NSD1, PALB2, PGR, PMS2, POLD1, POLE, PRKCD, RAD50, RAD51D, RBPJ, RNF213, RNF43, SCARB2, SCN10A, SDHA, SEPT9, SLC29A3, SLC39A4, SMARCA4, SRCAP, SRGAP1, TANGO2, TCN2, TERT, TET2, TGFBR2, TH, TMPRSS6, TNFRSF10B, WNT10B, WWOX, YY1AP1, ZFHX3, ZFYVE26,

ABCA4	Fundus flavimaculatus, 248200 (3) {Macular degeneration, age-related, 2}, 153800 (3) Cone-rod dystrophy 3, 604116 (3) Retinal dystrophy, early-onset severe, 248200 (3) Retinitis pigmentosa 19, 601718 (3) Stargardt disease 1, 248200 (3)
ABCG8	{Gallbladder disease 4}, 611465 (3) Sitosterolemia, 210250 (3)
ACAD9	Mitochondrial complex I deficiency, nuclear type 20, 611126 (3)
ACADVL	VLCAD deficiency, 201475 (3)
ADAMTS13	Thrombotic thrombocytopenic purpura, familial, 274150 (3)
APC	Adenoma, periampullary, somatic (3) Adenomatous polyposis coli, 175100 (3) Gardner syndrome, 175100 (3) Gastric cancer, somatic, 613659 (3) Brain tumor-polyposis syndrome 2, 175100 (3) Hepatoblastoma, somatic, 114550 (3) Colorectal cancer, somatic, 114500 (3) Desmoid disease, hereditary, 135290 (3)
ATM	Ataxia-telangiectasia, 208900 (3) Lymphoma, B-cell non-Hodgkin, somatic (3) Lymphoma, mantle cell, somatic (3) T-cell prolymphocytic leukemia, somatic (3) {Breast cancer, susceptibility to}, 114480 (3)
ATR	?Cutaneous telangiectasia and cancer syndrome, familial, 614564 (3) Seckel syndrome 1, 210600 (3)
AUH	3-methylglutaconic aciduria, type I, 250950 (3)
AXIN2	Colorectal cancer, somatic, 114500 (3) Oligodontia-colorectal cancer syndrome, 608615 (3)
BARD1	{Breast cancer, susceptibility to}, 114480 (3)
BMP1	Osteogenesis imperfecta, type XIII, 614856 (3)
BMPR1A	Juvenile polyposis syndrome, infantile form, 174900 (3) Polyposis syndrome, hereditary mixed, 2, 610069 (3) Polyposis, juvenile intestinal, 174900 (3)
BRCA1	Fanconi anemia, complementation group S, 617883 (3) {Pancreatic cancer, susceptibility to, 4}, 614320 (3) {Breast-ovarian cancer, familial, 1}, 604370 (3)
CACNA1S	{Malignant hyperthermia susceptibility 5}, 601887 (3) Hypokalemic periodic paralysis, type 1, 170400 (3) {Thyrotoxic periodic paralysis, susceptibility to, 1}, 188580 (3)
CAST	Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads, 616295 (3)
CCND1	{Multiple myeloma, susceptibility to}, 254500 (3) {von Hippel-Lindau syndrome, modifier of}, 193300 (3) {Colorectal cancer, susceptibility to}, 114500 (3)
CD2AP	Glomerulosclerosis, focal segmental, 3, 607832 (3)
CDKN2A	{Melanoma, cutaneous malignant, 2}, 155601 (3) Melanoma and neural system tumor syndrome, 155755 (3) Orolaryngeal cancer, multiple, (3) Pancreatic cancer/melanoma syndrome, 606719 (3)
CEP78	Cone-rod dystrophy and hearing loss, 617236 (3)
CERS1	?Epilepsy, progressive myoclonic, 8, 616230 (3)
CLCNKB	Bartter syndrome, type 3, 607364 (3) Bartter syndrome, type 4b, digenic, 613090 (3)
CLN3	Ceroid lipofuscinosis, neuronal, 3, 204200 (3)
COL18A1	Knobloch syndrome, type 1, 267750 (3)
COL2A1	Avascular necrosis of the femoral head, 608805 (3) Achondrogenesis, type II or hypochondrogenesis, 200610 (3) Czech dysplasia, 609162 (3) Legg-Calve-Perthes disease, 150600 (3) Epiphyseal dysplasia, multiple, with myopia and deafness, 132450 (3) Kniest dysplasia, 156550 (3) Osteoarthritis with mild chondrodysplasia, 604864 (3) Platyspondylic skeletal dysplasia, Torrance type, 151210 (3) SED congenita, 183900 (3) SMED Strudwick type, 184250 (3) Spondyloepiphyseal dysplasia, Stanescu type, 616583 (3) Spondyloperipheral dysplasia, 271700 (3) Stickler sydrome, type I, nonsyndromic ocular, 609508 (3) Stickler syndrome, type I, 108300 (3) Vitreoretinopathy with phalangeal epiphyseal dysplasia (3)
CSF3R	Neutropenia, severe congenital, 7, autosomal recessive, 617014 (3)
CTSB	Keratolytic winter erythema, 148370 (4)
DDHD1	Spastic paraplegia 28, autosomal recessive, 609340 (3)
DENND5A	Epileptic encephalopathy, early infantile, 49, 617281 (3)
DES	Cardiomyopathy, dilated, 1I, 604765 (3) Myopathy, myofibrillar, 1, 601419 (3) Scapuloperoneal syndrome, neurogenic, Kaeser type, 181400 (3)
DMD	Becker muscular dystrophy, 300376 (3) Cardiomyopathy, dilated, 3B, 302045 (3) Duchenne muscular dystrophy, 310200 (3)
DNM2	Centronuclear myopathy 1, 160150 (3) Charcot-Marie-Tooth disease, axonal type 2M, 606482 (3) Charcot-Marie-Tooth disease, dominant intermediate B, 606482 (3) Lethal congenital contracture syndrome 5, 615368 (3)
DRD4	Autonomic nervous system dysfunction (3) [Novelty seeking personality], 601696 (1) {Attention deficit-hyperactivity disorder}, 143465 (3)
DTNA	Left ventricular noncompaction 1, with or without congenital heart defects, 604169 (3)
DZIP1L	Polycystic kidney disease 5, 617610 (3)
ECEL1	Arthrogryposis, distal, type 5D, 615065 (3)
EGF	Hypomagnesemia 4, renal, 611718 (3)
EGLN1	Erythrocytosis, familial, 3, 609820 (3) [Hemoglobin, high altitude adaptation], 609070 (3)
EPB41	Elliptocytosis-1, 611804 (3)
EPCAM	Colorectal cancer, hereditary nonpolyposis, type 8, 613244 (3) Diarrhea 5, with tufting enteropathy, congenital, 613217 (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)
FAN1	Interstitial nephritis, karyomegalic, 614817 (3)
FANCD2	Fanconi anemia, complementation group D2, 227646 (3)
FANCM	?Premature ovarian failure 15, 618096 (3) Spermatogenic failure 28, 618086 (3)
FBN1	Geleophysic dysplasia 2, 614185 (3) Ectopia lentis, familial, 129600 (3) MASS syndrome, 604308 (3) Marfan lipodystrophy syndrome, 616914 (3) Marfan syndrome, 154700 (3) Acromicric dysplasia, 102370 (3) Stiff skin syndrome, 184900 (3) Weill-Marchesani syndrome 2, dominant, 608328 (3)
FDX1L	Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy, 251900 (3)
FLVCR2	Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome, 225790 (3)
GLCCI1	{Glucocorticoid therapy, response to}, 614400 (3)
GRIN2D	Epileptic encephalopathy, early infantile, 46, 617162 (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)
HOXB13	{Prostate cancer, hereditary, 9}, 610997 (3)
HUWE1	Mental retardation, X-linked syndromic, Turner type, 300706 (3)
IRAK3	{Asthma susceptibility 5}, 611064 (3)
IRF7	?Immunodeficiency 39, 616345 (3)
JUP	Arrhythmogenic right ventricular dysplasia 12, 611528 (3) Naxos disease, 601214 (3)
KCNMA1	Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy, 609446 (3) ?Cerebellar atrophy, developmental delay, and seizures, 617643 (3)
KIF4A	?Mental retardation, X-linked 100, 300923 (3)
KISS1	?Hypogonadotropic hypogonadism 13 with or without anosmia, 614842 (3)
KRT81	Monilethrix, 158000 (3)
LAMC3	Cortical malformations, occipital, 614115 (3)
LRIG2	Urofacial syndrome 2, 615112 (3)
LRP2	Donnai-Barrow syndrome, 222448 (3)
MBTPS2	IFAP syndrome with or without BRESHECK syndrome, 308205 (3) Keratosis follicularis spinulosa decalvans, X-linked, 308800 (3) Osteogenesis imperfecta, type XIX, 301014 (3) ?Olmsted syndrome, X-linked, 300918 (3)
MCC	Colorectal cancer, somatic, 114500 (3)
MESP2	Spondylocostal dysostosis 2, autosomal recessive, 608681 (3)
MSH2	Colorectal cancer, hereditary nonpolyposis, type 1, 120435 (3) Mismatch repair cancer syndrome, 276300 (3) Muir-Torre syndrome, 158320 (3)
MSH3	Familial adenomatous polyposis 4, 617100 (3) Endometrial carcinoma, somatic, 608089 (3)
MSH6	Colorectal cancer, hereditary nonpolyposis, type 5, 614350 (3) Mismatch repair cancer syndrome, 276300 (3) {Endometrial cancer, familial}, 608089 (3)
MYH9	Deafness, autosomal dominant 17, 603622 (3) Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, 155100 (3)
MYO9B	{Celiac disease, susceptibility to, 4}, 609753 (3)
NALCN	Congenital contractures of the limbs and face, hypotonia, and developmental delay, 616266 (3) Hypotonia, infantile, with psychomotor retardation and characteristic facies 1, 615419 (3)
NANS	Spondyloepimetaphyseal dysplasia, Camera-Genevieve type, 610442 (3)
NBN	Aplastic anemia, 609135 (3) Leukemia, acute lymphoblastic, 613065 (3) Nijmegen breakage syndrome, 251260 (3)
NF1	Leukemia, juvenile myelomonocytic, 607785 (3) Neurofibromatosis, familial spinal, 162210 (3) Neurofibromatosis, type 1, 162200 (3) Neurofibromatosis-Noonan syndrome, 601321 (3) Watson syndrome, 193520 (3)
NNT	Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency, 614736 (3)
NSD1	Leukemia, acute myeloid, 601626 (1) Sotos syndrome 1, 117550 (3)
PALB2	Fanconi anemia, complementation group N, 610832 (3) {Pancreatic cancer, susceptibility to, 3}, 613348 (3) {Breast cancer, susceptibility to}, 114480 (3)
PGR	?Progesterone resistance, 264080 (2)
PMS2	Colorectal cancer, hereditary nonpolyposis, type 4, 614337 (3) Mismatch repair cancer syndrome, 276300 (3)
POLD1	Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, 615381 (3) {Colorectal cancer, susceptibility to, 10}, 612591 (3)
POLE	IMAGE-I syndrome, 618336 (3) FILS syndrome, 615139 (3) {Colorectal cancer, susceptibility to, 12}, 615083 (3)
PRKCD	Autoimmune lymphoproliferative syndrome, type III, 615559 (3)
RAD50	Nijmegen breakage syndrome-like disorder, 613078 (3)
RAD51D	{Breast-ovarian cancer, familial, susceptibility to, 4}, 614291 (3)
RBPJ	Adams-Oliver syndrome 3, 614814 (3)
RNF213	{Moyamoya disease 2, susceptibility to}, 607151 (3)
RNF43	Sessile serrated polyposis cancer syndrome, 617108 (3)
SCARB2	Epilepsy, progressive myoclonic 4, with or without renal failure, 254900 (3)
SCN10A	Episodic pain syndrome, familial, 2, 615551 (3)
SDHA	Cardiomyopathy, dilated, 1GG, 613642 (3) Leigh syndrome, 256000 (3) Mitochondrial respiratory chain complex II deficiency, 252011 (3) Paragangliomas 5, 614165 (3)
SEPT9	Amyotrophy, hereditary neuralgic, 162100 (3) Leukemia, acute myeloid, therapy-related (1) Ovarian carcinoma (1)
SLC29A3	Histiocytosis-lymphadenopathy plus syndrome, 602782 (3)
SLC39A4	Acrodermatitis enteropathica, 201100 (3)
SMARCA4	Coffin-Siris syndrome 4, 614609 (3) {Rhabdoid tumor predisposition syndrome 2}, 613325 (3)
SRCAP	Floating-Harbor syndrome, 136140 (3)
SRGAP1	{Thyroid cancer, nonmedullary, 2}, 188470 (3)
TANGO2	Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration, 616878 (3)
TCN2	Transcobalamin II deficiency, 275350 (3)
TERT	{Leukemia, acute myeloid}, 601626 (3) {Melanoma, cutaneous malignant, 9}, 615134 (3) {Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1}, 614742 (3) {Dyskeratosis congenita, autosomal dominant 2}, 613989 (3) {Dyskeratosis congenita, autosomal recessive 4}, 613989 (3)
TET2	Myelodysplastic syndrome, somatic, 614286 (3)
TGFBR2	Colorectal cancer, hereditary nonpolyposis, type 6, 614331 (3) Loeys-Dietz syndrome 2, 610168 (3) Esophageal cancer, somatic, 133239 (3)
TH	Segawa syndrome, recessive, 605407 (3)
TMPRSS6	Iron-refractory iron deficiency anemia, 206200 (3)
TNFRSF10B	Squamous cell carcinoma, head and neck, 275355 (3)
WNT10B	Split-hand/foot malformation 6, 225300 (3) Tooth agenesis, selective, 8, 617073 (3)
WWOX	Epileptic encephalopathy, early infantile, 28, 616211 (3) Esophageal squamous cell carcinoma, somatic, 133239 (3) Spinocerebellar ataxia, autosomal recessive 12, 614322 (3)
YY1AP1	Grange syndrome, 602531 (3)
ZFHX3	Prostate cancer, somatic, 176807 (3)
ZFYVE26	Spastic paraplegia 15, autosomal recessive, 270700 (3)

Genes at Clinical Genomics Database

ABCA4, ABCG8, ACAD9, ACADVL, ADAMTS13, APC, ATM, ATR, AUH, AXIN2, BARD1, BMP1, BMPR1A, BRCA1, CACNA1S, CAST, CD2AP, CDKN2A, CERS1, CLCNKB, CLN3, COL18A1, COL2A1, CSF3R, DES, DMD, DNM2, DTNA, ECEL1, EGF, EGLN1, EPB41, EPCAM, ESR1, FAN1, FANCD2, FANCM, FBN1, FLVCR2, HLA-B, HUWE1, IRF7, JUP, KCNMA1, KIF4A, KISS1, KRT81, LAMC3, LRIG2, LRP2, MBTPS2, MESP2, MSH2, MSH3, MSH6, MT-ND1, MT-ND4, MT-ND6, MYH9, NALCN, NBN, NF1, NNT, NSD1, PALB2, PKHD1, PLEC, PMS2, POLD1, POLE, PRKCD, RAD50, RAD51D, RBPJ, RNF213, SCARB2, SDHA, SEPT9, SLC29A3, SLC39A4, SMARCA4, SRCAP, TANGO2, TCN2, TERT, TGFBR2, TH, TMPRSS6, TNFRSF10B, WNT10B, WWOX, ZFYVE26,

ABCA4	Cone-rod dystrophy 3 Retinitis pigmentosa 19 Stargardt disease 1 Retinal dystrophy, early-onset severe Fundus flavimaculatus
ABCG8	Sitosterolemia
ACAD9	Acyl-CoA dehydrogenase family, member 9, deficiency of
ACADVL	Acyl-CoA dehydrogenase, very long chain, deficiency of
ADAMTS13	Thrombotic thrombocytopenic purpura, familial Schulman-Upshaw syndrome
APC	Familial adenomatous polyposis Gardner syndrome Desmoid disease, hereditary
ATM	Breast cancer, susceptibility to Ataxia-Telangiectasia
ATR	Cutaneous telangiectasia and cancer syndrome, familial Seckel syndrome 1
AUH	3-methylglutaconic aciduria, type I
AXIN2	Oligodontia-colorectal cancer syndrome
BARD1	Breast cancer, susceptibility to
BMP1	Osteogenesis imperfecta, type XIII
BMPR1A	Polyposis syndrome, hereditary mixed, 2 Polyposis, juvenile intestinal
BRCA1	Breast-ovarian cancer, familial, susceptibility to, 1 Pancreatic cancer, susceptibility to, 4
CACNA1S	Malignant hyperthermia susceptibility 5 Thyrotoxic period paralysis, susceptibility 1 Hypokalemic periodic paralysis, type 1
CAST	Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads (PLACK)
CD2AP	Focal segmental glomerulosclerosis 3
CDKN2A	Melanoma, familial Melanoma-pancreatic cancer syndrome
CERS1	Epilepsy, progressive myoclonic 8
CLCNKB	Bartter syndrome, type 3 Bartter syndrome, type 4, digenic
CLN3	Ceroid lipofuscinosis, neuronal, 3
COL18A1	Knobloch syndrome 1
COL2A1	Stickler syndrome, type I Rhegmatogenous retinal detachment, autosomal dominant Czech dysplasia Otospondylomegaepiphyseal dysplasia Epiphyseal dysplasia, multiple, with myopia and deafness Avascular necrosis of femoral head, primary
CSF3R	Neutrophilia, hereditary
DES	Myopathy, myofibrillar 1 Cardiomyopathy, dilated, 1I
DMD	Duchenne muscular dystrophy Becker muscular dystrophy Cardiomyopathy, dilated, 3B
DNM2	Charcot-Marie-Tooth disease, dominant intermediate B Charcot-Marie-Tooth disease, axonal, type 2M Myopathy, centronuclear Lethal akinesia and musculoskeletal abnormalities, with brain and retinal hemorrhages, autosomal recessive
DTNA	Left ventricular noncompaction 1
ECEL1	Arthrogryposis, distal, type 5D
EGF	Hypomagnesemia 4, renal
EGLN1	Erythrocytosis, familial, 3
EPB41	Ellipsocytosis 1
EPCAM	Colorectal cancer, hereditary nonpolyposis, type 8 Diarrhea 5, with tufting enteropathy, congenital
ESR1	Estrogen resistance
FAN1	Interstitial nephritis, karyomegalic
FANCD2	Fanconi anemia, complementation group D2
FANCM	Fanconi anemia type M
FBN1	Marfan syndrome MASS syndrome Shprintzen-Goldberg syndrome Marfan lipodystrophy syndrome
FLVCR2	Proliferative vasculopathy and hydraencephaly-hydrocephaly syndrome
HLA-B	Drug-induced toxicity, susceptibility to
HUWE1	Mental retardation, X-linked syndromic, Turner type
IRF7	Immunodeficiency 39
JUP	Arrhythmogenic right ventricular dysplasia, familial, 12 Naxos disease
KCNMA1	Generalized epilepsy and paroxysmal dyskinesia
KIF4A	Mental retardation, X-linked 100
KISS1	Hypogonadotropic hypogonadism 13 with or without anosmia
KRT81	Monilethrix
LAMC3	Cortical malformations, occipital
LRIG2	Urofacial syndrome 2
LRP2	Donnai-Barrow syndrome Faciooculoacousticorenal syndrome
MBTPS2	Keratosis follicularis spinulosa decalvans, X-linked IFAP syndrome with or without BRESHECK syndrome Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, X-linked
MESP2	Spondylocostal dysostosis 2, autosomal recessive
MSH2	Colorectal cancer, hereditary nonpolyposis, type 1 Endometrial cancer Mismatch repair cancer syndrome Muir-Torre syndrome
MSH3	Endometrial carcinoma
MSH6	Colorectal cancer, hereditary nonpolyposis type 5 Mismatch repair cancer syndrome Endometrial cancer
MT-ND1	Deafness, mitochondrial
MT-ND4	Leber hereditary optic neuropathy Leber optic atrophy and dystonia Mitochondrial complex I deficiency
MT-ND6	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes Oncocytoma Leber hereditary optic neuropathy Leber optic atrophy and dystonia Mitochondrial complex I deficiency
MYH9	Sebastian syndrome May-Hegglin anomaly Fechtner syndrome Epstein syndrome Macrothrombocytopenia and progressive sensorineural deafness
NALCN	Congenital contractures of the limbs and face, hypotonia, and developmental delay Hypotonia, infantile, with psychomotor retardation and characteristic facies 1
NBN	Breast cancer, susceptibility to Nijmegen breakage syndrome
NF1	Neurofibromatosis type 1, Neurofibromatosis-Noonan syndrome Watson syndrome
NNT	Glucocorticoid deficiency 4
NSD1	Sotos syndrome Weaver syndrome Beckwith-Wiedemann syndrome
PALB2	Breast cancer Pancreatic cancer, susceptibility to 3 Fanconi anemia, complementation group N
PKHD1	Polycystic kidney disease, autosomal recessive
PLEC	Muscular dystrophy, limb-girdle, type 2Q Epidermolysis bullosa simplex with pyloric atresia Epidermolysis bullosa simplex with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex with nail dystrophy
PMS2	Colorectal cancer, hereditary nonpolyposis type 4 Mismatch repair cancer syndrome
POLD1	Colorectal cancer, susceptibility to, 10
POLE	Colorectal cancer, susceptibility to, 12 Facial dysmorphism, immunodeficiency, livedo, and short stature syndrome (FILS syndrome)
PRKCD	Autoimmune lymphoproliferative syndrome type III
RAD50	Breast cancer, susceptibility to
RAD51D	Ovarian cancer, familial, susceptibility to
RBPJ	Adams-Oliver syndrome 3
RNF213	Moyamoya disease 2
SCARB2	Epilepsy, progressive myoclonic 4, with or without renal failure
SDHA	Paragangliomas 5 Gastrointestinal stromal tumors Cardiomyopathy, dilated, 1GG Leigh syndrome/Mitochondrial respiratory chain complex II deficiency
SEPT9	Amyotrophy, hereditary neuralgic
SLC29A3	Histiocytosis-lymphadenopathy plus syndrome
SLC39A4	Acrodermatitis enteropathica
SMARCA4	Rhabdoid tumor predisposition syndrome 2
SRCAP	Floating-Harbor syndrome
TANGO2	Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration (MECRCN)
TCN2	Transcobalamin II deficiency
TERT	Aplastic anemia Dyskeratosis congenita, autosomal dominant Dyskeratosis congenita, autosomal recessive Pulmonary fibrosis and/or bone marrow failure, telomere-related 1
TGFBR2	Loeys-Dietz syndrome, type 2B Loeys-Dietz syndrome, type 1B
TH	Segawa syndrome, autosomal recessive
TMPRSS6	Iron-refractory iron deficiency anemia
TNFRSF10B	Squamous cell carcinoma, head and neck
WNT10B	Split-hand/foot malformation 6
WWOX	Epileptic encephalopathy, early infantile, 28 Spinocerebellar ataxia, autosomal recessive 12
ZFYVE26	Spastic paraplegia 15

Genes at HGMD

Summary

Number of Variants: 45508
Number of Genes: 371

Export to: CSV

Page 1 of 456
next

Page 1 of 456
next

ABCA4
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	hsm03	1	rs1801555 dbSNP Clinvar	94466659	7.0	A	G	.	0/1	1	SPLICE_SITE_REGION+SYNONYMOUS_CODING	LOW	SILENT	0.30112	0.30110	0.29886				None None	None None None None	ABCA4\|0.440503373\|18.63%
ABCA9
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	hsm03	17	rs61744902 dbSNP Clinvar	67031880	7.0	A	G	.	0/1	1	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.00879	0.00879	0.00877	0.05	0.52		None None	None None None None	ABCA9\|0.017284198\|75.69%
ABCG8
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	hsm03	2	rs6544718 dbSNP Clinvar	44104925	7.0	T	C	.	0/1	1	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.92292	0.92290	0.16277	1.00	0.00		None None	None None None None	ABCG8\|0.174377842\|39.74%
AC068620.1
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	hsm03	4	rs114833088 dbSNP Clinvar	57276846	7.0	C	T	.	0/1	1	SYNONYMOUS_CODING	LOW	SILENT	0.03335	0.03335					None None	None None None None	PPAT\|0.443666776\|18.5%
AC112693.2
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	hsm03	15	rs115698584 dbSNP Clinvar	93749887	7.0	C	G	.	0/1	1	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.03315	0.03315		1.00	0.63		None None	None None None None	None
ACACB
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	hsm03	12	rs7135947 dbSNP Clinvar	109629457	7.0	C	T	.	0/1	1	SYNONYMOUS_CODING	LOW	SILENT	0.38139	0.38140	0.44503				None None	None None None None	ACACB\|0.108212697\|49.54%
ACAD9
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	hsm03	3	.	128627037	7.0	G	C	.	0/1	1	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE				0.01	1.00		None None	None None None None	ACAD9\|0.037542625\|66.62%
ACADVL
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	hsm03	17	rs2230178 dbSNP Clinvar	7123506	7.0	G	A	.	0/1	1	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.06070	0.06070	0.01135	0.39	0.03		None None	None None None None	ACADVL\|0.231050725\|33.28%
ADAMTS13
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	hsm03	9	.	136289503	7.0	A	G	.	0/1	1	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE				1.00	0.00		None None	None None None None	ADAMTS13\|0.009367264\|81.4%
ADCK5
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	hsm03	8	rs6599528 dbSNP Clinvar	145603114	7.0	A	C	.	0/1	1	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.63239	0.63240	0.45824	0.80	0.00		None None	None None None None	ADCK5\|0.009712798\|81.05%