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:
AARS, ABAT, ABCA3, ABCC1, ABCC11, ABCC12, ABCC6, AC004381.6, AC025287.1, ACD, ACSF3, ACSM1, ACSM2A, ACSM2B, ACSM3, ACSM5, ADAD2, ADAMTS18, ADAT1, ADCY7, ADCY9, ALDOA, ALG1, ANKRD11, ANKS3, APOBR, APRT, AQP8, ATF7IP2, ATMIN, ATP2A1, ATP2C2, ATXN1L, ATXN2L, AXIN1, BAIAP3, BANP, BBS2, BCAR1, BCMO1, BFAR, BRD7, BRICD5, C16orf11, C16orf3, C16orf45, C16orf46, C16orf59, C16orf62, C16orf71, C16orf74, C16orf89, C16orf93, C16orf95, C16orf96, CACNA1H, CAPN15, CAPNS2, CARHSP1, CASP16, CBFA2T3, CCDC101, CCDC102A, CCDC135, CCDC154, CCDC64B, CCDC78, CCDC79, CCL22, CCP110, CD19, CDH1, CDH11, CDH13, CDH15, CDH3, CDH5, CDIP1, CDT1, CENPBD1, CENPN, CES1, CES5A, CETP, CFDP1, CHD9, CHTF18, CIITA, CIRH1A, CLCN7, CLDN6, CLEC16A, CLEC18A, CLEC18B, CLEC18C, CLN3, CLUAP1, CMIP, CMTM1, CMTM2, CMTM3, CMTR2, CNGB1, CNOT1, CNTNAP4, COG4, COG7, COQ7, CORO1A, CORO7-PAM16, COX4I1, CPNE7, CPPED1, CRAMP1L, CREBBP, CRISPLD2, CRYM, CTB-134H23.2, CTD-2600O9.1, CTD-3088G3.8, CTRB1, CTRB2, CYBA, CYLD, DBNDD1, DCTN5, DCUN1D3, DDX19A, DDX28, DECR2, DEF8, DHODH, DHX38, DNAAF1, DNAH3, DNAJA3, DNASE1, DOC2A, DPEP1, DPEP2, DUS2, E4F1, EARS2, EEF2K, ELMO3, EME2, ERCC4, ERI2, ERN2, FA2H, FAHD1, FAM173A, FAM57B, FAM86A, FANCA, FBXL16, FBXL19, FLYWCH1, FUK, FUS, GALNS, GAN, GAS8, GCSH, GDPD3, GGA2, GINS2, GLG1, GLIS2, GLYR1, GNAO1, GNG13, GOT2, GP2, GPR56, GPR97, GRIN2A, GSE1, GSG1L, GSPT1, HAGHL, HCFC1R1, HEATR3, HIRIP3, HS3ST2, HS3ST4, HS3ST6, HSD17B2, HSD3B7, HYDIN, IFT140, IGFALS, IGHV3OR16-13, IGHV3OR16-9, IL17C, IL32, IL34, IL4R, INO80E, IQCK, IRX3, IRX5, IRX6, ITFG1, ITGAD, ITGAL, ITGAM, ITGAX, JPH3, KAT8, KATNB1, KCNG4, KIAA0556, KIF22, KIFC3, KREMEN2, LCMT1, LITAF, LMF1, LPCAT2, MAPK8IP3, MARVELD3, MBTPS1, MEFV, MEIOB, METRN, METTL22, MKL2, MMP15, MMP2, MMP25, MON1B, MPG, MPHOSPH6, MRPL28, MSLN, MSLNL, MSRB1, MT1A, MT1M, MT4, MTHFSD, MVD, MVP, MYH11, MYLK3, NAA60, NAE1, NAGPA, NARFL, NDRG4, NECAB2, NFATC3, NLRC3, NLRC5, NME3, NME4, NOD2, NOMO1, NOMO3, NOXO1, NPIPA2, NPIPB11, NPIPB15, NPIPB3, NPIPB5, NPIPB6, NPRL3, NPW, NQO1, NSMCE1, NTAN1, NUBP1, NUBP2, NUDT7, NUP93, NUPR1, OR1F1, OR2C1, ORAI3, OSGIN1, PDIA2, PDILT, PDPK1, PDPR, PDXDC1, PIEZO1, PIGQ, PKD1, PKD1L2, PLA2G15, PLCG2, PMFBP1, POLR3K, PPL, PRDM7, PRKCB, PRM1, PRM3, PRMT7, PRR14, PRR25, PRRT2, PRSS21, PRSS36, PRSS53, PRSS54, PTX4, QPRT, RAB11FIP3, RAB40C, RBBP6, RBL2, RFWD3, RGS11, RHBDF1, RHOT2, RNF166, RNF40, RP11-166B2.1, RP11-231C14.4, RP11-276H1.3, RP11-830F9.6, RPS2, RSL1D1, SALL1, SCNN1B, SCNN1G, SEC14L5, SEPT1, SETD6, SEZ6L2, SF3B3, SH2B1, SHCBP1, SHISA9, SLC12A3, SLC12A4, SLC22A31, SLC38A8, SLC5A11, SLC7A6OS, SLX1A, SLX4, SMG1, SNX29, SOX8, SPATA2L, SPG7, SPN, SPNS1, SPSB3, SRCAP, SRL, SRRM2, SSTR5, STUB1, STX4, SULT1A1, SULT1A2, SYCE1L, TAF1C, TAOK2, TBC1D10B, TBL3, TBX6, TCEB2, TEKT5, TELO2, TEPP, TERF2, TERF2IP, TFAP4, THUMPD1, TK2, TLDC1, TMC5, TMC7, TMEM159, TMEM204, TMEM231, TMEM8A, TNFRSF12A, TNFRSF17, TNRC6A, TOX3, TP53TG3D, TPSAB1, TPSB2, TPSD1, TPSG1, TRAP1, TSC2, TVP23A, TXNDC11, UBE2I, UBFD1, UMOD, UNKL, USP10, USP31, USP7, VAC14, VASN, VPS35, VPS9D1, VWA3A, WASH4P, WDR24, WDR90, WFDC1, WFIKKN1, WWOX, WWP2, XPO6, XYLT1, ZC3H18, ZCCHC14, ZDHHC7, ZFHX3, ZFP90, ZFPM1, ZG16, ZKSCAN2, ZNF174, ZNF19, ZNF200, ZNF205, ZNF267, ZNF276, ZNF319, ZNF423, ZNF469, ZNF48, ZNF500, ZNF597, ZNF598, ZNF646, ZNF668, ZNF720, ZNF768, ZNF778, ZP2,

+ Genes associated with diseases 105

Genes at Omim

AARS, ABAT, ABCA3, ABCC11, ABCC6, ACD, ACSF3, ACSM3, ADAMTS18, ALDOA, ALG1, ANKRD11, APRT, ATP2A1, AXIN1, BBS2, CACNA1H, CCDC78, CD19, CDH1, CDH11, CDH15, CDH3, CDT1, CES1, CETP, CIITA, CLCN7, CLN3, CNGB1, COG4, COG7, COQ7, CORO1A, CREBBP, CRYM, CYBA, CYLD, DHODH, DHX38, DNAAF1, DNASE1, EARS2, ERCC4, FA2H, FANCA, FUS, GALNS, GAN, GAS8, GCSH, GLIS2, GNAO1, GRIN2A, HSD3B7, HYDIN, IFT140, IGFALS, IL4R, IRX5, JPH3, KATNB1, KIF22, LITAF, LMF1, MEFV, MEIOB, MMP2, MVD, MYH11, NOD2, NPRL3, NQO1, NUP93, PIEZO1, PKD1, PLCG2, PMFBP1, PRMT7, PRRT2, RFWD3, SALL1, SCNN1B, SCNN1G, SLC12A3, SLC38A8, SLX4, SRCAP, SSTR5, STUB1, TBX6, TELO2, TK2, TMEM231, TNRC6A, TSC2, 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)
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)
ALDOA	Glycogen storage disease XII, 611881 (3)
ALG1	Congenital disorder of glycosylation, type Ik, 608540 (3)
ANKRD11	KBG syndrome, 148050 (3)
APRT	Adenine phosphoribosyltransferase deficiency, 614723 (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)
CACNA1H	Hyperaldosteronism, familial, type IV, 617027 (3) {Epilepsy, childhood absence, susceptibility to, 6}, 611942 (3) {Epilepsy, idiopathic generalized, susceptibility to, 6}, 611942 (3)
CCDC78	?Centronuclear myopathy 4, 614807 (3)
CD19	Immunodeficiency, common variable, 3, 613493 (3)
CDH1	Gastric cancer, hereditary diffuse, with or without cleft lip and/or palate, 137215 (3) Blepharocheilodontic syndrome 1, 119580 (3) Endometrial carcinoma, somatic, 608089 (3) {Prostate cancer, susceptibility to}, 176807 (3) Ovarian cancer, somatic, 167000 (3) {Breast cancer, lobular}, 114480 (3)
CDH11	Elsahy-Waters syndrome, 211380 (3)
CDH15	Mental retardation, autosomal dominant 3, 612580 (3)
CDH3	Hypotrichosis, congenital, with juvenile macular dystrophy, 601553 (3) Ectodermal dysplasia, ectrodactyly, and macular dystrophy, 225280 (3)
CDT1	Meier-Gorlin syndrome 4, 613804 (3)
CES1	Drug metabolism, altered, CES1-related, 618057 (3)
CETP	Hyperalphalipoproteinemia, 143470 (3) [High density lipoprotein cholesterol level QTL 10], 143470 (3)
CIITA	Bare lymphocyte syndrome, type II, complementation group A, 209920 (3) {Rheumatoid arthritis, susceptibility to}, 180300 (3)
CLCN7	Osteopetrosis, autosomal dominant 2, 166600 (3) Osteopetrosis, autosomal recessive 4, 611490 (3)
CLN3	Ceroid lipofuscinosis, neuronal, 3, 204200 (3)
CNGB1	Retinitis pigmentosa 45, 613767 (3)
COG4	Congenital disorder of glycosylation, type IIj, 613489 (3) Saul-Wilson syndrome, 618150 (3)
COG7	Congenital disorder of glycosylation, type IIe, 608779 (3)
COQ7	?Coenzyme Q10 deficiency, primary, 8, 616733 (3)
CORO1A	Immunodeficiency 8, 615401 (3)
CREBBP	Menke-Hennekam syndrome 1, 618332 (3) Rubinstein-Taybi syndrome 1, 180849 (3)
CRYM	Deafness, autosomal dominant 40, 616357 (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)
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)
IRX5	Hamamy syndrome, 611174 (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)
LITAF	Charcot-Marie-Tooth disease, type 1C, 601098 (3)
LMF1	Lipase deficiency, combined, 246650 (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)
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)
PIEZO1	Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, 194380 (3) Lymphatic malformation 6, 616843 (3)
PKD1	Polycystic kidney disease 1, 173900 (3)
PLCG2	Familial cold autoinflammatory syndrome 3, 614468 (3) Autoinflammation, antibody deficiency, and immune dysregulation syndrome, 614878 (3)
PMFBP1	Spermatogenic failure 31, 618112 (3)
PRMT7	Short stature, brachydactyly, intellectual developmental disability, and seizures, 617157 (3)
PRRT2	Convulsions, familial infantile, with paroxysmal choreoathetosis, 602066 (3) Episodic kinesigenic dyskinesia 1, 128200 (3) Seizures, benign familial infantile, 2, 605751 (3)
RFWD3	?Fanconi anemia, complementation group W, 617784 (3)
SALL1	Townes-Brocks branchiootorenal-like syndrome, 107480 (3) Townes-Brocks syndrome 1, 107480 (3)
SCNN1B	Bronchiectasis with or without elevated sweat chloride 1, 211400 (3) Liddle syndrome 1, 177200 (3) Pseudohypoaldosteronism, type I, 264350 (3)
SCNN1G	Bronchiectasis with or without elevated sweat chloride 3, 613071 (3) Liddle syndrome 2, 618114 (3) Pseudohypoaldosteronism, type I, 264350 (3)
SLC12A3	Gitelman syndrome, 263800 (3)
SLC38A8	Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis, 609218 (3)
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)
TBX6	Spondylocostal dysostosis 5, 122600 (3)
TELO2	You-Hoover-Fong syndrome, 616954 (3)
TK2	Mitochondrial DNA depletion syndrome 2 (myopathic type), 609560 (3) ?Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3, 617069 (3)
TMEM231	Joubert syndrome 20, 614970 (3) Meckel syndrome 11, 615397 (3)
TNRC6A	?Epilepsy, familial adult myoclonic, 6, 618074 (3)
TSC2	Lymphangioleiomyomatosis, somatic, 606690 (3) ?Focal cortical dysplasia, type II, somatic, 607341 (3) Tuberous sclerosis-2, 613254 (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, ACD, ACSF3, ADAMTS18, ALDOA, ALG1, ANKRD11, APRT, ATP2A1, AXIN1, BBS2, CD19, CDH1, CDH15, CDH3, CDT1, CES1, CETP, CIITA, CLCN7, CLN3, CNGB1, COG4, COG7, COQ7, CORO1A, CREBBP, CRYM, CYBA, CYLD, DHODH, DNAAF1, DNASE1, EARS2, ERCC4, FA2H, FANCA, FUS, GALNS, GAN, GAS8, GCSH, GLIS2, GNAO1, GRIN2A, HSD3B7, IFT140, IGFALS, JPH3, KATNB1, KIAA0556, KIF22, LITAF, LMF1, MEFV, MMP2, MVD, MYH11, NOD2, PIEZO1, PKD1, PLCG2, PRRT2, SALL1, SCNN1B, SCNN1G, SLC12A3, SLC38A8, SLX4, SPG7, SRCAP, SSTR5, STUB1, TBX6, TK2, TMEM231, TRAP1, TSC2, 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
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
ALDOA	Glycogen storage disease XII
ALG1	Congenital disorder of glycosylation, type Ik
ANKRD11	KBG syndrome
APRT	Adenine phosphoribosyltransferase deficiency
ATP2A1	Brody myopathy
AXIN1	Caudal duplication anomaly
BBS2	Bardet-Biedl syndrome 2 Retinitis pigmentosa 74
CD19	Immunodeficiency, common variable 3
CDH1	CDH1-related cancer
CDH15	Mental retardation, autosomal dominant 3
CDH3	Hypotrichosis, congenital, with juvenile macular dystrophy Ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome
CDT1	Meier-Gorlin syndrome 4
CES1	Carboxylesterase 1 deficiency
CETP	Hyperalphalipoproteinemia 1
CIITA	Bare lymphocyte syndrome, type II
CLCN7	Osteopetrosis, autosomal dominant 2 Osteopetrosis, autosomal recessive 4
CLN3	Ceroid lipofuscinosis, neuronal, 3
CNGB1	Retinitis pigmentosa 45
COG4	Congenital disorder of glycosylation, type IIj
COG7	Congenital disorder of glycosylation, type IIe
COQ7	Coenzyme Q10 deficiency, primary 8
CORO1A	Immunodeficiency 8
CREBBP	Rubinstein-Taybi syndrome
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
GRIN2A	Epilepsy, focal, with speech disorder and with or without mental retardation
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
JPH3	Huntington disease-like 2
KATNB1	Lissencephaly 6, with microcephaly
KIAA0556	Joubert syndrome 26
KIF22	Spondyloepimetaphyseal dysplasia with joint laxity, type 2
LITAF	Charcot-Marie-Tooth disease, type 1C
LMF1	Combined lipase deficiency
MEFV	Familial Mediterranean fever
MMP2	Torg-Winchester syndrome Multicentric osteolysis, nodulosis, and arthropathy
MVD	Porokeratosis 7
MYH11	Aortic aneurysm, familial thoracic 4
NOD2	Blau syndrome Sarcoidosis, early-onset
PIEZO1	Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema
PKD1	Polycystic kidney disease, adult type I
PLCG2	Familial cold autoinflammatory syndrome 3 (PLAID) Autoinflammation, antibody deficiency, and immune dysregulation syndrome (APLAID)
PRRT2	Episodic kinesigenic dyskinesia 1
SALL1	Townes-Brocks syndrome
SCNN1B	Pseudohypoaldosteronism, type I Liddle syndrome Bronchiectasis with or without elevated sweat chloride 3
SCNN1G	Pseudohypoaldosteronism, type I Liddle syndrome Bronchiectasis with or without elevated sweat chloride 3
SLC12A3	Gitelman syndrome
SLC38A8	Foveal hypoplasia 2
SLX4	Fanconi anemia type P
SPG7	Spastic paraplegia 7, autosomal recessive
SRCAP	Floating-Harbor syndrome
SSTR5	Resistance to somatostatin treatment
STUB1	Spinocerebellar ataxia, autosomal recessive 16
TBX6	Spondylocostal dysostosis 5
TK2	Mitochondrial DNA depletion syndrome 2
TMEM231	Joubert syndrome 20 Meckel syndrome 11
TRAP1	Congenital abnormalities of the kidney and urinary tract VACTERL association
TSC2	Tuberous sclerosis 2 Lymphangioleiomyomatosis
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: 4143
Number of Genes: 443

Export to: CSV

Page 1 of 42
next

Page 1 of 42
next

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	62393865_s40 mvar 62393865_S40.FREEBAYES	16	rs2070203 dbSNP Clinvar	70303580	1193.77	G	A	PASS	0/1	84	SYNONYMOUS_CODING	LOW	None	0.42532	0.42530	0.49077				None None	None None None None	AARS\|0.341353977\|24.74%
	View	62393865_s40 mvar 62393865_S40.FREEBAYES	16	rs4081753 dbSNP Clinvar	70287177	6229.77	A	G	PASS	1/1	171	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	62393865_s40 mvar 62393865_S40.FREEBAYES	16	rs1641022 dbSNP Clinvar	8868776	1799.77	C	A	PASS	0/1	114	SYNONYMOUS_CODING	LOW	None	0.31749	0.31750	0.32261				None None	None None None None	ABAT\|0.163825558\|41.04%
	View	62393865_s40 mvar 62393865_S40.FREEBAYES	16	rs1731017 dbSNP Clinvar	8839954	1506.77	A	G	PASS	1/1	42	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	62393865_s40 mvar 62393865_S40.FREEBAYES	16	rs149532 dbSNP Clinvar	2331430	7310.77	A	G	PASS	1/1	208	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	62393865_s40 mvar 62393865_S40.FREEBAYES	16	rs2230671 dbSNP Clinvar	16228242	480.77	G	A	PASS	0/1	45	SYNONYMOUS_CODING	LOW	None	0.17512	0.17510	0.21715				None None	None None None None	ABCC1\|0.091540799\|52.94%
	View	62393865_s40 mvar 62393865_S40.FREEBAYES	16	rs35605 dbSNP Clinvar	16162019	2782.77	T	C	PASS	0/1	206	SYNONYMOUS_CODING	LOW	None	0.78654	0.78650	0.15359				None None	None None None None	ABCC1\|0.091540799\|52.94%
ABCC11
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	62393865_s40 mvar 62393865_S40.FREEBAYES	16	rs17822931 dbSNP Clinvar	48258198	424.77	C	T	PASS	0/1	25	NON_SYNONYMOUS_CODING	MODERATE	None	0.30092	0.30090	0.09800	0.00	1.00		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	62393865_s40 mvar 62393865_S40.FREEBAYES	16	rs7193955 dbSNP Clinvar	48122582	2608.77	G	A	PASS	0/1	147	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%
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	62393865_s40 mvar 62393865_S40.FREEBAYES	16	rs6416668 dbSNP Clinvar	16271357	3144.77	T	C	PASS	1/1	88	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	62393865_s40 mvar 62393865_S40.FREEBAYES	16	rs8058694 dbSNP Clinvar	16278863	3032.77	G	T	PASS	0/1	187	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	62393865_s40 mvar 62393865_S40.FREEBAYES	16	rs7500834 dbSNP Clinvar	16272670	3948.77	T	C	PASS	1/1	107	SYNONYMOUS_CODING	LOW	None	0.96446	0.96450	0.03548				None None	None None None None	ABCC6\|0.022547171\|72.9%
	View	62393865_s40 mvar 62393865_S40.FREEBAYES	16	rs8058696 dbSNP Clinvar	16278869	2656.77	G	C	PASS	0/1	146	SYNONYMOUS_CODING	LOW	None	0.33267	0.33270	0.45306				None None	None None None None	ABCC6\|0.022547171\|72.9%
	View	62393865_s40 mvar 62393865_S40.FREEBAYES	16	rs12931472 dbSNP Clinvar	16281007	1503.77	A	G	PASS	0/1	101	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%
	View	62393865_s40 mvar 62393865_S40.FREEBAYES	16	rs2238472 dbSNP Clinvar	16251599	1150.77	C	T	PASS	0/1	70	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%
AC004381.6
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	62393865_s40 mvar 62393865_S40.FREEBAYES	16	rs9929443 dbSNP Clinvar	20855309	3167.77	A	G	PASS	1/1	87	SYNONYMOUS_CODING	LOW	None	0.82428	0.82430	0.16751				None None	None None None None	ERI2\|0.119712352\|47.5%