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Genes:
AARS, ABAT, ABCA3, ABCC1, ABCC12, ABCC6, AC004381.6, AC009041.2, AC135048.1, ACD, ACSF3, ACSM1, ACSM2A, ACSM2B, ACSM5, ADAD2, ADAMTS18, ADCY7, ADCY9, ALDOA, ALG1, AMDHD2, ANKRD11, ANKS3, APOBR, APRT, AQP8, ARHGAP17, ARMC5, ASPHD1, ATF7IP2, ATMIN, ATP2A1, ATP2C2, ATXN2L, AXIN1, BAIAP3, BANP, BBS2, BCAR1, BCKDK, BCL7C, BCMO1, BEAN1, BFAR, BRICD5, C16orf3, C16orf46, C16orf59, C16orf62, C16orf71, C16orf89, C16orf93, C16orf96, C16orf98, CACNA1H, CAPN15, CAPNS2, CARHSP1, CCDC102A, CCDC113, CCDC135, CCDC154, CCDC78, CCDC79, CCL22, CCNF, CCP110, CD19, CDH1, CDH11, CDH13, CDH3, CDH5, CDIP1, CDT1, CDYL2, CENPBD1, CENPN, CES1, CES5A, CETP, CFDP1, CHD9, CHST5, CHST6, CHTF18, CIITA, CLCN7, CLEC18A, CLEC18B, CLEC18C, CLEC19A, CMC2, CMTM1, CMTM2, CMTR2, CNGB1, CNOT1, CNTNAP4, COG4, COG7, COQ7, CORO1A, CORO7-PAM16, COX4I1, CPPED1, CRAMP1L, CRISPLD2, CRYM, CTRB2, CTRL, CTU2, CYB5B, CYBA, DCTN5, DCUN1D3, DDX19A, DDX28, DEF8, DHX38, DNAAF1, DNAH3, DNAJA3, DPEP1, DPEP2, DUS2, E2F4, E4F1, EARS2, EDC4, EEF2K, ELMO3, ERCC4, ERI2, ERN2, FA2H, FAHD1, FAM173A, FAM86A, FANCA, FBRS, FBXL16, FLYWCH1, FUK, FUS, GALNS, GAN, GAS8, GCSH, GDPD3, GFER, GGA2, GLG1, GLIS2, GLYR1, GNAO1, GOT2, GP2, GPR139, GPR56, GPR97, GSE1, GSG1L, GSPT1, HAGHL, HAS3, HEATR3, HPR, HS3ST4, HS3ST6, HSD3B7, HSDL1, HYDIN, IFT140, IGFALS, IL27, IL32, IL34, IL4R, IQCK, IRF8, IRX3, IRX6, IST1, ITGAD, ITGAM, ITGAX, JPH3, KARS, KAT8, KATNB1, KCNG4, KIAA0556, KIF22, KIFC3, KLHL36, KREMEN2, LITAF, LMF1, LPCAT2, MAPK8IP3, MARVELD3, MBTPS1, MC1R, MEFV, MEIOB, METTL22, MLKL, MLYCD, MMP15, MMP2, MON1B, MPHOSPH6, MRPL28, MSLN, MSLNL, MT1A, MT1E, MT1M, MT4, MTHFSD, MVD, MYH11, MYLK3, NAA60, NAGPA, NARFL, NDRG4, NLRC3, NLRC5, NME3, NME4, NMRAL1, NOB1, NOD2, NOL3, NOMO1, NPIPA1, NPIPB3, NPIPB5, NPRL3, NPW, NSMCE1, NUBP2, NUDT7, NUP93, OR1F1, OR2C1, ORAI3, OSGIN1, PDIA2, PDILT, PDP2, PDPK1, PDPR, PDXDC1, PHLPP2, PIEZO1, PIGQ, PKD1, PKD1L2, PLA2G15, PLCG2, PLLP, PMFBP1, POLR2C, POLR3K, PPL, PRDM7, PRKCB, PRM2, PRM3, PRMT7, PRR25, PRRT2, PRSS21, PRSS33, PRSS36, PRSS53, PRSS54, PSMB10, PTX4, QPRT, RAB11FIP3, RBL2, RFWD3, RGS11, RHBDF1, RHOT2, RNF166, RNF40, ROGDI, RPGRIP1L, RPL13, RPS2, RRN3, RSL1D1, SALL1, SCNN1B, SCNN1G, SDR42E1, SEC14L5, SEPT1, SEPT12, SETD1A, SETD6, SEZ6L2, SF3B3, SH2B1, SHCBP1, SHISA9, SLC12A3, SLC12A4, SLC22A31, SLC38A8, SLC5A11, SLC7A6OS, SLC9A3R2, SLX4, SMG1, SMIM22, SNX20, SNX29, SOX8, SPATA2L, SPG7, SPNS1, SPSB3, SRCAP, SRL, SRRM2, SSTR5, STUB1, STX1B, SULT1A1, SULT1A2, SYCE1L, TAF1C, TAOK2, TAT, TBC1D10B, TBL3, TBX6, TCEB2, TEKT5, TELO2, TEPP, TERF2, THUMPD1, TK2, TLDC1, TMC7, TMEM159, TMEM204, TMEM8A, TNFRSF17, TNRC6A, TOX3, TP53TG3D, TPSAB1, TPSB2, TPSD1, TPSG1, TRIM72, TSC2, TXNDC11, UBE2I, UBFD1, UBN1, UMOD, UNKL, USP10, USP31, VASN, VAT1L, VPS35, VPS9D1, VWA3A, WDR24, WDR59, WDR90, WFIKKN1, WWOX, WWP2, XPO6, ZC3H18, ZCCHC14, ZDHHC7, ZFHX3, ZFPM1, ZG16, ZKSCAN2, ZNF174, ZNF19, ZNF205, ZNF23, ZNF267, ZNF319, ZNF469, ZNF48, ZNF500, ZNF597, ZNF598, ZNF646, ZNF668, ZNF720, ZNF764, ZNF768, ZNF778, ZNF821,

+ Genes associated with diseases 104

Genes at Omim

AARS, ABAT, ABCA3, ABCC6, ACD, ACSF3, ADAMTS18, ALDOA, ALG1, ANKRD11, APRT, ARMC5, ATP2A1, AXIN1, BBS2, BCKDK, CACNA1H, CCDC78, CD19, CDH1, CDH11, CDH3, CDT1, CES1, CETP, CHST6, CIITA, CLCN7, CNGB1, COG4, COG7, COQ7, CORO1A, CRYM, CTU2, CYBA, DHX38, DNAAF1, EARS2, ERCC4, FA2H, FANCA, FUS, GALNS, GAN, GAS8, GCSH, GFER, GLIS2, GNAO1, HSD3B7, HYDIN, IFT140, IGFALS, IL4R, IRF8, JPH3, KARS, KATNB1, KIF22, LITAF, LMF1, MC1R, MEFV, MEIOB, MLYCD, MMP2, MVD, MYH11, NOD2, NOL3, NPRL3, NUP93, PIEZO1, PKD1, PLCG2, PMFBP1, PRMT7, PRRT2, RFWD3, ROGDI, RPGRIP1L, SALL1, SCNN1B, SCNN1G, SEPT12, SLC12A3, SLC38A8, SLX4, SRCAP, SSTR5, STUB1, STX1B, TAT, TBX6, TELO2, TK2, TNRC6A, TSC2, UMOD, VPS35, WWOX, ZFHX3, ZNF469,

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)
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)
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)
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)
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)
CHST6	Macular corneal dystrophy, 217800 (3)
CIITA	Bare lymphocyte syndrome, type II, complementation group A, 209920 (3) {Rheumatoid arthritis, susceptibility to}, 180300 (3)
CLCN7	Osteopetrosis, autosomal dominant 2, 166600 (3) Osteopetrosis, autosomal recessive 4, 611490 (3)
CNGB1	Retinitis pigmentosa 45, 613767 (3)
COG4	Congenital disorder of glycosylation, type IIj, 613489 (3) Saul-Wilson syndrome, 618150 (3)
COG7	Congenital disorder of glycosylation, type IIe, 608779 (3)
COQ7	?Coenzyme Q10 deficiency, primary, 8, 616733 (3)
CORO1A	Immunodeficiency 8, 615401 (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)
DHX38	Retinitis pigmentosa 84, 618220 (3)
DNAAF1	Ciliary dyskinesia, primary, 13, 613193 (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)
GFER	Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay, 613076 (3)
GLIS2	Nephronophthisis 7, 611498 (3)
GNAO1	Epileptic encephalopathy, early infantile, 17, 615473 (3) Neurodevelopmental disorder with involuntary movements, 617493 (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)
JPH3	Huntington disease-like 2, 606438 (3)
KARS	Deafness, autosomal recessive 89, 613916 (3) ?Charcot-Marie-Tooth disease, recessive intermediate, B, 613641 (3)
KATNB1	Lissencephaly 6, with microcephaly, 616212 (3)
KIF22	Spondyloepimetaphyseal dysplasia with joint laxity, type 2, 603546 (3)
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)
MLYCD	Malonyl-CoA decarboxylase deficiency, 248360 (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)
NOL3	?Myoclonus, familial, 1, 614937 (3)
NPRL3	Epilepsy, familial focal, with variable foci 3, 617118 (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)
ROGDI	Kohlschutter-Tonz syndrome, 226750 (3)
RPGRIP1L	COACH syndrome, 216360 (3) Joubert syndrome 7, 611560 (3) Meckel syndrome 5, 611561 (3)
SALL1	Townes-Brocks branchiootorenal-like syndrome, 107480 (3) Townes-Brocks syndrome 1, 107480 (3)
SCNN1B	Bronchiectasis with or without elevated sweat chloride 1, 211400 (3) Liddle syndrome 1, 177200 (3) Pseudohypoaldosteronism, type I, 264350 (3)
SCNN1G	Bronchiectasis with or without elevated sweat chloride 3, 613071 (3) Liddle syndrome 2, 618114 (3) Pseudohypoaldosteronism, type I, 264350 (3)
SEPT12	Spermatogenic failure 10, 614822 (3)
SLC12A3	Gitelman syndrome, 263800 (3)
SLC38A8	Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis, 609218 (3)
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)
STX1B	Generalized epilepsy with febrile seizures plus, type 9, 616172 (3)
TAT	Tyrosinemia, type II, 276600 (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)
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)
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)
ZFHX3	Prostate cancer, somatic, 176807 (3)
ZNF469	Brittle cornea syndrome 1, 229200 (3)

Genes at Clinical Genomics Database

AARS, ABAT, ABCA3, ABCC6, ACD, ACSF3, ADAMTS18, ALDOA, ALG1, ANKRD11, APRT, ARMC5, ATP2A1, AXIN1, BBS2, BCKDK, BEAN1, CD19, CDH1, CDH3, CDT1, CES1, CETP, CHST6, CIITA, CLCN7, CNGB1, COG4, COG7, COQ7, CORO1A, CRYM, CYBA, DNAAF1, EARS2, ERCC4, FA2H, FANCA, FUS, GALNS, GAN, GAS8, GCSH, GFER, GLIS2, GNAO1, HSD3B7, IFT140, IGFALS, IRF8, JPH3, KARS, KATNB1, KIAA0556, KIF22, LITAF, LMF1, MC1R, MEFV, MLYCD, MMP2, MVD, MYH11, NOD2, NOL3, PIEZO1, PKD1, PLCG2, PRRT2, ROGDI, RPGRIP1L, SALL1, SCNN1B, SCNN1G, SEPT12, SLC12A3, SLC38A8, SLX4, SPG7, SRCAP, SSTR5, STUB1, STX1B, TAT, TBX6, TK2, TSC2, UMOD, VPS35, WWOX, 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
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
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
CD19	Immunodeficiency, common variable 3
CDH1	CDH1-related cancer
CDH3	Hypotrichosis, congenital, with juvenile macular dystrophy Ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome
CDT1	Meier-Gorlin syndrome 4
CES1	Carboxylesterase 1 deficiency
CETP	Hyperalphalipoproteinemia 1
CHST6	Macular dystrophy, corneal, 1 Macular dystrophy, corneal, 2
CIITA	Bare lymphocyte syndrome, type II
CLCN7	Osteopetrosis, autosomal dominant 2 Osteopetrosis, autosomal recessive 4
CNGB1	Retinitis pigmentosa 45
COG4	Congenital disorder of glycosylation, type IIj
COG7	Congenital disorder of glycosylation, type IIe
COQ7	Coenzyme Q10 deficiency, primary 8
CORO1A	Immunodeficiency 8
CRYM	Deafness, autosomal dominant 40
CYBA	Chronic granulomatous disease, autosomal, due to deficiency of CYBA
DNAAF1	Ciliary dyskinesia, primary, 13
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
GFER	Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay
GLIS2	Nephronophthisis 7
GNAO1	Epileptic encephalopathy, early infantile, 17
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)
JPH3	Huntington disease-like 2
KARS	Charcot-Marie-Tooth disease, recessive intermediate B
KATNB1	Lissencephaly 6, with microcephaly
KIAA0556	Joubert syndrome 26
KIF22	Spondyloepimetaphyseal dysplasia with joint laxity, type 2
LITAF	Charcot-Marie-Tooth disease, type 1C
LMF1	Combined lipase deficiency
MC1R	Increased analgesia from kappa-opioid receptor agonist, female specific
MEFV	Familial Mediterranean fever
MLYCD	Malonyl-CoA decarboxylase deficiency
MMP2	Torg-Winchester syndrome Multicentric osteolysis, nodulosis, and arthropathy
MVD	Porokeratosis 7
MYH11	Aortic aneurysm, familial thoracic 4
NOD2	Blau syndrome Sarcoidosis, early-onset
NOL3	Myoclonus, familial cortical
PIEZO1	Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema
PKD1	Polycystic kidney disease, adult type I
PLCG2	Familial cold autoinflammatory syndrome 3 (PLAID) Autoinflammation, antibody deficiency, and immune dysregulation syndrome (APLAID)
PRRT2	Episodic kinesigenic dyskinesia 1
ROGDI	Kohlschutter-Tonz syndrome
RPGRIP1L	Meckel syndrome 5 Joubert syndrome 7 COACH syndrome Retinal degeneration in ciliopathy, modifier of
SALL1	Townes-Brocks syndrome
SCNN1B	Pseudohypoaldosteronism, type I Liddle syndrome Bronchiectasis with or without elevated sweat chloride 3
SCNN1G	Pseudohypoaldosteronism, type I Liddle syndrome Bronchiectasis with or without elevated sweat chloride 3
SEPT12	Spermatogenic failure 10
SLC12A3	Gitelman syndrome
SLC38A8	Foveal hypoplasia 2
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
STX1B	Generalized epilepsy with febrile seizures plus, type 9
TAT	Tyrosinemia, type II
TBX6	Spondylocostal dysostosis 5
TK2	Mitochondrial DNA depletion syndrome 2
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
ZNF469	Brittle cornea syndrome 1

Genes at HGMD

Summary

Number of Variants: 2774
Number of Genes: 411

Export to: CSV

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AARS
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_L_father	16	rs2070203 dbSNP Clinvar	70303580	4474.16	G	A	PASS	0\|1	180	SYNONYMOUS_CODING	LOW	None	0.42532	0.42530	0.49077				None None	None None None None	AARS\|0.341353977\|24.74%
	View	proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_L_father	16	rs4081753 dbSNP Clinvar	70287177	20091.9	A	G	PASS	1\|1	241	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	proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_L_father	16	rs1731017 dbSNP Clinvar	8839954	4645.92	A	G	PASS	0/1	186	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	proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_L_father	16	rs149532 dbSNP Clinvar	2331430	8654.16	A	G	PASS	1\|0	152	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	proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_L_father	16	rs35605 dbSNP Clinvar	16162019	2089.16	T	C	PASS	1\|1	47	SYNONYMOUS_CODING	LOW	None	0.78654	0.78650	0.15359				None None	None None None None	ABCC1\|0.091540799\|52.94%
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	proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_L_father	16	rs7193955 dbSNP Clinvar	48122582	5438.9	G	A	PASS	1\|1	77	NON_SYNONYMOUS_CODING	MODERATE	None	0.59125	0.59130	0.40394	0.09	0.01		None None	None None None None	ABCC12\|0.070949421\|57.23%
	View	proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_L_father	16	rs12149826 dbSNP Clinvar	48164777	7116.13	T	C	PASS	1\|1	85	SYNONYMOUS_CODING	LOW	None	0.12081	0.12080	0.22335				None None	None None None None	ABCC12\|0.070949421\|57.23%
ABCC6
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_L_father	16	rs6416668 dbSNP Clinvar	16271357	9054.9	T	C	PASS	1\|1	94	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	proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_L_father	16	rs7500834 dbSNP Clinvar	16272670	13782.9	T	C	PASS	1\|1	139	SYNONYMOUS_CODING	LOW	None	0.96446	0.96450	0.03548				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	proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_L_father	16	rs9929443 dbSNP Clinvar	20855309	3081.16	A	G	PASS	1\|1	57	SYNONYMOUS_CODING	LOW	None	0.82428	0.82430	0.16751				None None	None None None None	ERI2\|0.119712352\|47.5%
AC009041.2
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	proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_L_father	16	rs75895009 dbSNP Clinvar	1031255	1658.16	C	T	PASS	1\|0	79	NON_SYNONYMOUS_CODING	MODERATE	None	0.02955	0.02955			0.00		None None	None None None None	LMF1\|0.017657655\|75.51%
AC135048.1
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	proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_L_father	16	rs12443627 dbSNP Clinvar	30996872	2023.13	G	C	PASS	1\|1	14	NON_SYNONYMOUS_CODING	MODERATE	None	0.50200	0.50200			0.00		None None	None None None None	HSD3B7\|0.090377296\|53.14%
	View	proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_L_father	16	rs12443808 dbSNP Clinvar	30996871	2023.13	C	G	PASS	1\|1	13	SYNONYMOUS_CODING	LOW	None	0.40316	0.40320					None None	None None None None	HSD3B7\|0.090377296\|53.14%