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Genes:
AARS, ABAT, ABCA3, ABCC1, ABCC11, ABCC12, ABCC6, AC004381.6, AC135048.1, ACSM1, ACSM2A, ACSM2B, ACSM3, ACSM5, ADAD2, ADAMTS18, ADAT1, ADCY7, ADCY9, AHSP, ALDOA, ALG1, ANKRD11, ANKS3, APOBR, APRT, ARMC5, ATF7IP2, ATMIN, ATP2A1, ATP2C2, ATXN1L, ATXN2L, AXIN1, BAIAP3, BANP, BBS2, BCAR1, BCKDK, BCMO1, BEAN1, BFAR, BRD7, BRICD5, C16orf46, C16orf52, C16orf59, C16orf62, C16orf71, C16orf89, C16orf90, C16orf95, C16orf96, CA5A, CACNA1H, CAPN15, CARHSP1, CASKIN1, CBFA2T3, CCDC102A, CCDC135, CCDC154, CCDC64B, CCDC78, CCL22, CCP110, CD19, CDH1, CDH11, CDH13, CDH15, CDH16, CDH3, CDH5, CDIP1, CDT1, CDYL2, CENPBD1, CENPN, CES1, CES5A, CETP, CFDP1, CHD9, CHST5, CHTF18, CIITA, CLCN7, CLDN6, CLEC18A, CLEC18B, CLEC18C, CLEC19A, CLEC3A, CMC2, CMTM1, CMTM2, CMTM4, CMTR2, CNGB1, CNOT1, CNTNAP4, COG4, COQ7, CORO1A, CORO7-PAM16, COX4I1, COX6A2, CPNE2, CPNE7, CPPED1, CRAMP1L, CREBBP, CRISPLD2, CRYM, CTB-134H23.2, CTD-3088G3.8, CTRB2, CTU2, CYBA, DCUN1D3, DDX19A, DDX28, DEF8, DHODH, DHX38, DNAAF1, DNAH3, DNAJA3, DNASE1, DOC2A, DPEP2, DPEP3, DUS2, E2F4, E4F1, EARS2, ECI1, EEF2K, ERI2, FA2H, FAM173A, FAM57B, FAM86A, FANCA, FBXL16, FBXL19, FBXO31, FLJ00104, FLYWCH1, FOPNL, FOXL1, FUK, FUS, GAS8, GCSH, GDPD3, GGA2, GINS2, GLG1, GLIS2, GLYR1, GNAO1, GNG13, GOT2, GPR114, GPR139, GPR56, GPR97, GSE1, GSG1L, GSPT1, HAGH, HAGHL, HAS3, HCFC1R1, HP, HPR, HS3ST2, HS3ST4, HS3ST6, HSD17B2, HSD3B7, HSDL1, HYDIN, IFT140, IGFALS, IL27, IL32, IL34, IL4R, INO80E, IRF8, IRX3, IRX5, IRX6, ITFG3, ITGAD, ITGAL, ITGAM, ITGAX, KARS, KAT8, KATNB1, KCNG4, KIAA0513, KIAA0556, KIF22, KIFC3, KREMEN2, LAT, LCMT1, LITAF, LMF1, LPCAT2, MAPK8IP3, MARVELD3, MBTPS1, MC1R, MEFV, MEIOB, METRN, METTL22, MMP15, MMP2, MON1B, MPG, MPHOSPH6, MRPL28, MRPS34, MSLN, MSLNL, MSRB1, MT1A, MT1B, MT1M, MT4, MTHFSD, MVD, MYH11, MYLK3, NAA60, NAGPA, NARFL, NDRG4, NDUFAB1, NECAB2, NLRC3, NLRC5, NME4, NOL3, NOMO1, NPIPA5, NPIPB15, NPIPB6, NPRL3, NQO1, NSMCE1, NTAN1, NUBP2, NUP93, OGFOD1, OR2C1, ORAI3, OSGIN1, OTOA, PDIA2, PDILT, PDPR, PDXDC1, PHLPP2, PIEZO1, PIGQ, PKD1, PKD1L2, PLCG2, PLEKHG4, PMFBP1, POLR2C, POLR3K, PPL, PRDM7, PRKCB, PRMT7, PRR14, PRR25, PRRT2, PRSS21, PRSS33, PRSS36, PRSS53, PRSS54, PTX4, QPRT, RAB11FIP3, RBL2, RFWD3, RGS11, RHBDF1, RHOT2, RLTPR, RNF166, RNF40, RP11-166B2.1, RP11-830F9.6, RPGRIP1L, RPS2, RPUSD1, RRN3, SALL1, SCNN1B, SCNN1G, SDR42E2, SEC14L5, SEPT1, SEPT12, SETD6, SEZ6L2, SF3B3, SHCBP1, SHISA9, SLC12A3, SLC12A4, SLC22A31, SLC5A11, SLC6A2, SLC7A6, SLC7A6OS, SLX4, SMG1, SMIM22, SMPD3, SNX29, SOX8, SPATA2L, SPIRE2, SPN, SPNS1, SPSB3, SRCAP, SRL, SRRM2, SSTR5, STUB1, SULT1A1, SULT1A2, SYCE1L, TAF1C, TAOK2, TBC1D10B, TBC1D24, TBL3, TBX6, TCEB2, TELO2, TEPP, TERF2IP, TFAP4, THAP11, THUMPD1, TK2, TLDC1, TMC7, TMEM159, TMEM204, TMEM231, TMEM8A, TNFRSF17, TNRC6A, TOX3, TPSAB1, TPSD1, TPSG1, TRAP1, TRIM72, TSC2, TUBB8P7, TXNDC11, UBE2I, UBFD1, UBN1, UMOD, UNKL, UQCRC2, USP10, USP31, USP7, VAC14, VASN, VPS35, VPS9D1, VWA3A, WDR24, WDR90, WFIKKN1, WWOX, WWP2, XPO6, XYLT1, ZC3H18, ZC3H7A, ZCCHC14, ZDHHC7, ZFHX3, ZFP90, ZFPM1, ZG16, ZKSCAN2, ZNF174, ZNF205, ZNF267, ZNF276, ZNF319, ZNF423, ZNF469, ZNF48, ZNF500, ZNF597, ZNF598, ZNF646, ZNF668, ZNF720, ZNF768, ZNF778, ZP2,

+ Genes associated with diseases 112

Genes at Omim

AARS, ABAT, ABCA3, ABCC11, ABCC6, ACSM3, ADAMTS18, ALDOA, ALG1, ANKRD11, APRT, ARMC5, ATP2A1, AXIN1, BBS2, BCKDK, CA5A, CACNA1H, CCDC78, CD19, CDH1, CDH11, CDH15, CDH3, CDT1, CES1, CETP, CIITA, CLCN7, CNGB1, COG4, COQ7, CORO1A, CREBBP, CRYM, CTU2, CYBA, DHODH, DHX38, DNAAF1, DNASE1, EARS2, FA2H, FANCA, FBXO31, FUS, GAS8, GCSH, GLIS2, GNAO1, HAGH, HP, HSD3B7, HYDIN, IFT140, IGFALS, IL4R, IRF8, IRX5, KARS, KATNB1, KIF22, LAT, LITAF, LMF1, MC1R, MEFV, MEIOB, MMP2, MRPS34, MVD, MYH11, NOL3, NPRL3, NQO1, NUP93, OTOA, PIEZO1, PKD1, PLCG2, PMFBP1, PRMT7, PRRT2, RFWD3, RPGRIP1L, SALL1, SCNN1B, SCNN1G, SEPT12, SLC12A3, SLC6A2, SLX4, SRCAP, SSTR5, STUB1, TBC1D24, TBX6, TELO2, TK2, TMEM231, TNRC6A, TSC2, UMOD, UQCRC2, 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)
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)
ARMC5	ACTH-independent macronodular adrenal hyperplasia 2, 615954 (3)
ATP2A1	Brody myopathy, 601003 (3)
AXIN1	Hepatocellular carcinoma, somatic, 114550 (3) ?Caudal duplication anomaly, 607864 (3)
BBS2	Bardet-Biedl syndrome 2, 615981 (3) Retinitis pigmentosa 74, 616562 (3)
BCKDK	Branched-chain ketoacid dehydrogenase kinase deficiency, 614923 (3)
CA5A	Hyperammonemia due to carbonic anhydrase VA deficiency, 615751 (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)
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)
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)
CTU2	Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome, 618142 (3)
CYBA	Chronic granulomatous disease, autosomal, due to deficiency of CYBA, 233690 (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)
FA2H	Spastic paraplegia 35, autosomal recessive, 612319 (3)
FANCA	Fanconi anemia, complementation group A, 227650 (3)
FBXO31	?Mental retardation, autosomal recessive 45, 615979 (3)
FUS	Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia, 608030 (3) Essential tremor, hereditary, 4, 614782 (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)
HAGH	[Glyoxalase II deficiency], 614033 (1)
HP	[Anhaptoglobinemia], 614081 (3) [Hypohaptoglobinemia], 614081 (3)
HSD3B7	Bile acid synthesis defect, congenital, 1, 607765 (3)
HYDIN	Ciliary dyskinesia, primary, 5, 608647 (3)
IFT140	Retinitis pigmentosa 80, 617781 (3) Short-rib thoracic dysplasia 9 with or without polydactyly, 266920 (3)
IGFALS	Acid-labile subunit, deficiency of, 615961 (3)
IL4R	{AIDS, slow progression to}, 609423 (3) {Atopy, susceptibility to}, 147050 (3)
IRF8	Immunodeficiency 32A, mycobacteriosis, autosomal dominant, 614893 (3) Immunodeficiency 32B, monocyte and dendritic cell deficiency, autosomal recessive, 226990 (3)
IRX5	Hamamy syndrome, 611174 (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)
LMF1	Lipase deficiency, combined, 246650 (3)
MC1R	{Melanoma, cutaneous malignant, 5}, 613099 (3) {UV-induced skin damage}, 266300 (3) [Analgesia from kappa-opioid receptor agonist, female-specific], 613098 (3) [Skin/hair/eye pigmentation 2, blond hair/fair skin], 266300 (3) [Skin/hair/eye pigmentation 2, red hair/fair skin], 266300 (3) {Albinism, oculocutaneous, type II, modifier of}, 203200 (3)
MEFV	Familial Mediterranean fever, AD, 134610 (3) Familial Mediterranean fever, AR, 249100 (3)
MEIOB	?Spermatogenic failure 22, 617706 (3)
MMP2	Multicentric osteolysis, nodulosis, and arthropathy, 259600 (3)
MRPS34	Combined oxidative phosphorylation deficiency 32, 617664 (3)
MVD	Porokeratosis 7, multiple types, 614714 (3)
MYH11	Aortic aneurysm, familial thoracic 4, 132900 (3)
NOL3	?Myoclonus, familial, 1, 614937 (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)
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)
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)
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)
TBC1D24	DOORS syndrome, 220500 (3) Deafness , autosomal recessive 86, 614617 (3) Deafness, autosomal dominant 65, 616044 (3) Epileptic encephalopathy, early infantile, 16, 615338 (3) Myoclonic epilepsy, infantile, familial, 605021 (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)
UQCRC2	Mitochondrial complex III deficiency, nuclear type 5, 615160 (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, ADAMTS18, ALDOA, ALG1, ANKRD11, APRT, ARMC5, ATP2A1, AXIN1, BBS2, BCKDK, BEAN1, CA5A, CD19, CDH1, CDH15, CDH3, CDT1, CES1, CETP, CIITA, CLCN7, CNGB1, COG4, COQ7, CORO1A, CREBBP, CRYM, CYBA, DHODH, DNAAF1, DNASE1, EARS2, FA2H, FANCA, FBXO31, FUS, GAS8, GCSH, GLIS2, GNAO1, HP, HSD3B7, IFT140, IGFALS, IRF8, KARS, KATNB1, KIAA0556, KIF22, LITAF, LMF1, MC1R, MEFV, MMP2, MVD, MYH11, NOL3, OTOA, PIEZO1, PKD1, PLCG2, PRRT2, RPGRIP1L, SALL1, SCNN1B, SCNN1G, SEPT12, SLC12A3, SLC6A2, SLX4, SRCAP, SSTR5, STUB1, TBC1D24, TBX6, TK2, TMEM231, TRAP1, TSC2, UMOD, UQCRC2, 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
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
ARMC5	ACTH-independent macronodular adrenal hyperplasia 2
ATP2A1	Brody myopathy
AXIN1	Caudal duplication anomaly
BBS2	Bardet-Biedl syndrome 2 Retinitis pigmentosa 74
BCKDK	Branched-chain ketoacid dehydrogenase kinase deficiency
BEAN1	Spinocerebellar ataxia 31
CA5A	Carbonic anhydrase VA deficiency
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
CNGB1	Retinitis pigmentosa 45
COG4	Congenital disorder of glycosylation, type IIj
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
DHODH	Postaxial acrofacial dysostosis (Miller syndrome)
DNAAF1	Ciliary dyskinesia, primary, 13
DNASE1	Macular dystrophy, North Carolina type
EARS2	Combined oxidative phosphorylation deficiency 12
FA2H	Spastic paraplegia 35, autosomal recessive
FANCA	Fanconi anemia, complementation group A
FBXO31	Mental retardation 45, autosomal recessive
FUS	Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia Essential tremor
GAS8	Ciliary dyskinesia, primary, 33
GCSH	Glycine encephalopathy
GLIS2	Nephronophthisis 7
GNAO1	Epileptic encephalopathy, early infantile, 17
HP	Anhaptoglobinemia Hypohaptoglobinemia
HSD3B7	Bile acid synthesis defect, congenital, 1
IFT140	Short-rib thoracic dysplasia 9 with or without polydactyly
IGFALS	Insulin-like growth factor-binding protein, acid-labile subunit, deficiency of
IRF8	Immunodeficiency 32A (CD11C-positive/CD1C-positive dendritic cell deficiency) Immunodeficiency 32B (monocyte and dendritic cell deficiency)
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
LMF1	Combined lipase deficiency
MC1R	Increased analgesia from kappa-opioid receptor agonist, female specific
MEFV	Familial Mediterranean fever
MMP2	Torg-Winchester syndrome Multicentric osteolysis, nodulosis, and arthropathy
MVD	Porokeratosis 7
MYH11	Aortic aneurysm, familial thoracic 4
NOL3	Myoclonus, familial cortical
OTOA	Deafness, autosomal recessive 22
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
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
SLC6A2	Orthostatic intolerance
SLX4	Fanconi anemia type P
SRCAP	Floating-Harbor syndrome
SSTR5	Resistance to somatostatin treatment
STUB1	Spinocerebellar ataxia, autosomal recessive 16
TBC1D24	Deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures (DOORS) syndrome Deafness, autosomal recessive 86
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
UQCRC2	Mitochondrial Complex III Deficiency, nuclear type 5
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: 4125
Number of Genes: 425

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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	4k20002_01 gatk	16	rs4081753 dbSNP Clinvar	70287177	1918.77	A	G	.	1/1	56	SYNONYMOUS_CODING	LOW	SILENT	0.88119	0.88120	0.15082				None None	None None None None	AARS\|0.341353977\|24.74%
	View	4k20002_01 gatk	16	rs2070203 dbSNP Clinvar	70303580	1202.77	G	A	.	0/1	129	SYNONYMOUS_CODING	LOW	SILENT	0.42532	0.42530	0.49077				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	4k20002_01 gatk	16	rs1641022 dbSNP Clinvar	8868776	3185.74	C	A	.	1/1	98	SYNONYMOUS_CODING	LOW	SILENT	0.31749	0.31750	0.32261				None None	None None None None	ABAT\|0.163825558\|41.04%
	View	4k20002_01 gatk	16	rs1731017 dbSNP Clinvar	8839954	1501.77	A	G	.	0/1	86	NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION	MODERATE	MISSENSE	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	4k20002_01 gatk	16	rs13332514 dbSNP Clinvar	2367336	1201.77	G	A	.	0/1	74	SYNONYMOUS_CODING	LOW	SILENT	0.19269	0.19270	0.09465				None None	None None None None	ABCA3\|0.043607901\|64.64%
	View	4k20002_01 gatk	16	rs149532 dbSNP Clinvar	2331430	3005.77	A	G	.	1/1	92	SYNONYMOUS_CODING	LOW	SILENT	0.90096	0.90100	0.13058				None None	None None None None	ABCA3\|0.043607901\|64.64%
	View	4k20002_01 gatk	16	rs323043 dbSNP Clinvar	2348528	561.77	G	C	.	0/1	83	SYNONYMOUS_CODING	LOW	SILENT	0.08167	0.08167	0.15628				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	4k20002_01 gatk	16	rs556651702 dbSNP Clinvar	16196533	998.77	T	C	.	0/1	78	SYNONYMOUS_CODING	LOW	SILENT	0.00060	0.00060					None None	None None None None	ABCC1\|0.091540799\|52.94%
	View	4k20002_01 gatk	16	rs35605 dbSNP Clinvar	16162019	1398.77	T	C	.	1/1	39	SYNONYMOUS_CODING	LOW	SILENT	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	4k20002_01 gatk	16	rs17822931 dbSNP Clinvar	48258198	2751.77	C	T	.	1/1	80	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.30092	0.30090	0.09800	0.00	0.92		None None	None None None None	ABCC11\|0.006558104\|83.99%
	View	4k20002_01 gatk	16	rs16945930 dbSNP Clinvar	48234327	1365.77	C	T	.	0/1	98	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.07169	0.07169	0.01323	0.10	0.48		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	4k20002_01 gatk	16	rs7193955 dbSNP Clinvar	48122582	2384.77	G	A	.	1/1	65	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	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	4k20002_01 gatk	16	rs9930886 dbSNP Clinvar	16291983	766.77	A	G	.	0/1	68	SYNONYMOUS_CODING	LOW	SILENT	0.28275	0.28270	0.31330				None None	None None None None	ABCC6\|0.022547171\|72.9%
	View	4k20002_01 gatk	16	rs6416668 dbSNP Clinvar	16271357	3573.77	T	C	.	1/1	103	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.96426	0.96430	0.03556	0.29	0.00		None None	None None None None	ABCC6\|0.022547171\|72.9%
	View	4k20002_01 gatk	16	rs7500834 dbSNP Clinvar	16272670	3893.77	T	C	.	1/1	110	SYNONYMOUS_CODING	LOW	SILENT	0.96446	0.96450	0.03548				None None	None None None None	ABCC6\|0.022547171\|72.9%
	View	4k20002_01 gatk	16	rs9940825 dbSNP Clinvar	16291971	710.77	C	T	.	0/1	66	SYNONYMOUS_CODING	LOW	SILENT	0.23223	0.23220	0.30603				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