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Genes:
AC005609.1, AC136604.1, ACTBL2, ADAM19, ADAMTS16, ADAMTS2, ADCY2, ADRA1B, ADRB2, AGGF1, AGXT2, AHRR, AMACR, ANKHD1, ANKRD31, ANKRD33B, ANKRD34B, ANXA6, AP3B1, APBB3, APC, AQPEP, ARAP3, ARHGEF28, ARL10, ARSB, ARSI, ATG12, B4GALT7, BDP1, BHMT2, BRD9, BTNL9, C5orf27, C5orf34, C5orf45, C5orf58, C5orf60, C5orf63, C5orf66, C6, C7, C9, CAMK2A, CAMK4, CARD6, CAST, CATSPER3, CCNJL, CCT5, CDC20B, CDH12, CDH18, CDH6, CDHR2, CDK7, CEP120, CEP72, CMYA5, CNOT6, CSF2, CTNNA1, CTNND2, CXCL14, DAB2, DBN1, DDX4, DDX41, DIAPH1, DMGDH, DMXL1, DNAH5, DOCK2, DOK3, DPYSL3, DRD1, EBF1, EGFLAM, ENC1, EPB41L4A-AS2, ERAP1, ERAP2, ERGIC1, F12, F2RL1, F2RL2, FABP6, FAM105B, FAM134B, FAM170A, FAM53C, FAT2, FBN2, FBXL7, FLT4, FOXD1, FOXI1, FST, FSTL4, FTMT, FYB, GABRA1, GABRA6, GABRB2, GABRG2, GALNT10, GDF9, GEMIN5, GFPT2, GFRA3, GHR, GM2A, GNB2L1, GNPDA1, GPR150, GPR98, GRAMD3, GRK6, GRM6, GZMA, HAND1, HAVCR1, HAVCR2, HCN1, HDAC3, HEXB, HIGD2A, HINT1, HK3, HMGXB3, HMMR, HNRNPH1, HSPA9, IL13, IL3, IL31RA, IL7R, IQGAP2, IRF1, IRGM, IRX2, IRX4, ITGA1, ITGA2, JMY, KCNMB1, KCNN2, KDM3B, KIAA0141, KIF20A, KIF2A, KIF3A, KLHL3, LPCAT1, LRRTM2, MAP1B, MAP3K1, MARVELD2, MAST4, MBLAC2, MCC, MCCC2, MCIDAS, MEGF10, MGAT1, MGAT4B, MROH2B, MRPS30, MSH3, MSX2, MTRR, MYO10, MYOT, MYOZ3, N4BP3, NAIP, NDST1, NDUFAF2, NDUFS4, NDUFS6, NIPAL4, NKX2-5, NMUR2, NNT, NPR3, NR3C1, NSD1, NSUN2, NUDT12, NUP155, OR2V1, OR2Y1, OSMR, PAPD7, PCDH1, PCDH12, PCDHA1, PCDHA10, PCDHA11, PCDHA12, PCDHA13, PCDHA2, PCDHA3, PCDHA4, PCDHA5, PCDHA6, PCDHA7, PCDHA8, PCDHA9, PCDHB10, PCDHB11, PCDHB12, PCDHB13, PCDHB14, PCDHB15, PCDHB16, PCDHB17, PCDHB2, PCDHB3, PCDHB4, PCDHB5, PCDHB6, PCDHB7, PCDHB8, PCDHGA10, PCDHGA12, PCDHGA7, PCDHGA9, PCDHGB1, PCDHGB2, PCSK1, PCYOX1L, PDE8B, PDLIM4, PDZD2, PELO, PHYKPL, PIK3R1, PITX1, PKD2L2, PLEKHG4B, POC5, PPARGC1B, PPP2CA, PRDM9, PROB1, PROP1, PSD2, PTTG1, RAI14, RANBP3L, RAPGEF6, REEP2, RGS7BP, RICTOR, RMND5B, RNF44, RPL26L1, SAR1B, SDHA, SEC24A, SEMA5A, SEPP1, SEPT8, SGCD, SH3PXD2B, SH3TC2, SHROOM1, SIL1, SLC12A7, SLC22A4, SLC22A5, SLC23A1, SLC25A2, SLC25A48, SLC26A2, SLC27A6, SLC34A1, SLC36A2, SLC36A3, SLC38A9, SLC45A2, SLC6A18, SLC6A19, SLC6A3, SLC6A7, SLCO6A1, SLIT3, SNX24, SOWAHA, SOX30, SPATA24, SPDL1, SPINK5, SPRY4, SQSTM1, STK10, STK32A, SYNPO, TCF7, TCOF1, TENM2, TERT, TIGD6, TIMD4, TMCO6, TMEM161B, TMEM173, TPPP, TRIM36, TRIM7, TRIO, TRPC7, TSPAN17, UGT3A1, UIMC1, VCAN, WDR36, WWC1, XRCC4, ZDHHC11, ZDHHC11B, ZNF354B, ZNF608, ZNF879, ZSWIM6,

+ Genes associated with diseases 110

Genes at Omim

ADAMTS2, ADRB2, AGXT2, AMACR, AP3B1, APC, ARSB, B4GALT7, BDP1, C6, C7, C9, CAMK2A, CAST, CCT5, CEP120, CTNNA1, DDX41, DIAPH1, DMGDH, DNAH5, DOCK2, ERGIC1, F12, FAM134B, FAT2, FBN2, FLT4, FOXI1, FYB, GABRA1, GABRB2, GABRG2, GDF9, GHR, GM2A, GRM6, HCN1, HEXB, HINT1, HMMR, HSPA9, IL13, IL31RA, IL7R, IRF1, IRGM, ITGA2, KCNMB1, KIF2A, KLHL3, MAP3K1, MARVELD2, MCC, MCCC2, MEGF10, MSH3, MSX2, MTRR, MYOT, NDST1, NDUFAF2, NDUFS4, NDUFS6, NIPAL4, NKX2-5, NNT, NPR3, NR3C1, NSD1, NSUN2, NUP155, OSMR, PCDH12, PCSK1, PDE8B, PHYKPL, PIK3R1, PITX1, PPARGC1B, PPP2CA, PROP1, REEP2, SAR1B, SDHA, SGCD, SH3PXD2B, SH3TC2, SIL1, SLC22A4, SLC22A5, SLC26A2, SLC34A1, SLC36A2, SLC45A2, SLC6A19, SLC6A3, SPINK5, SPRY4, SQSTM1, TCOF1, TERT, TMEM173, TRIM36, TRIO, VCAN, WDR36, WWC1, XRCC4, ZSWIM6,

ADAMTS2	Ehlers-Danlos syndrome, dermatosparaxis type, 225410 (3)
ADRB2	Beta-2-adrenoreceptor agonist, reduced response to (3) {Obesity, susceptibility to}, 601665 (3) {Asthma, nocturnal, susceptibility to}, 600807 (3)
AGXT2	[Beta-aminoisobutyric acid, urinary excretion of], 210100 (3)
AMACR	Alpha-methylacyl-CoA racemase deficiency, 614307 (3) Bile acid synthesis defect, congenital, 4, 214950 (3)
AP3B1	Hermansky-Pudlak syndrome 2, 608233 (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)
ARSB	Mucopolysaccharidosis type VI (Maroteaux-Lamy), 253200 (3)
B4GALT7	Ehlers-Danlos syndrome, spondylodysplastic type, 1, 130070 (3)
BDP1	?Deafness, autosomal recessive 112, 618257 (3)
C6	C6 deficiency, 612446 (3) Combined C6/C7 deficiency (3)
C7	C7 deficiency, 610102 (3)
C9	C9 deficiency, 613825 (3) {Macular degeneration, age-related, 15, susceptibility to}, 615591 (3)
CAMK2A	Mental retardation, autosomal dominant 53, 617798 (3) ?Mental retardation, autosomal recessive 63, 618095 (3)
CAST	Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads, 616295 (3)
CCT5	Neuropathy, hereditary sensory, with spastic paraplegia, 256840 (3)
CEP120	Joubert syndrome 31, 617761 (3) Short-rib thoracic dysplasia 13 with or without polydactyly, 616300 (3)
CTNNA1	Macular dystrophy, patterned, 2, 608970 (3)
DDX41	{Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to}, 616871 (3)
DIAPH1	Deafness, autosomal dominant 1, 124900 (3) Seizures, cortical blindness, microcephaly syndrome, 616632 (3)
DMGDH	Dimethylglycine dehydrogenase deficiency, 605850 (3)
DNAH5	Ciliary dyskinesia, primary, 3, with or without situs inversus, 608644 (3)
DOCK2	Immunodeficiency 40, 616433 (3)
ERGIC1	?Arthrogryposis multiplex congenita, neurogenic type, 208100 (3)
F12	Factor XII deficiency, 234000 (3) Angioedema, hereditary, type III, 610618 (3)
FAM134B	Neuropathy, hereditary sensory and autonomic, type IIB, 613115 (3)
FAT2	Spinocerebellar ataxia 45, 617769 (3)
FBN2	Contractural arachnodactyly, congenital, 121050 (3) Macular degeneration, early-onset, 616118 (3)
FLT4	Hemangioma, capillary infantile, somatic, 602089 (3) Lymphatic malformation 1, 153100 (3)
FOXI1	Enlarged vestibular aqueduct, 600791 (3)
FYB	Thrombocytopenia 3, 273900 (3)
GABRA1	Epileptic encephalopathy, early infantile, 19, 615744 (3) {Epilepsy, childhood absence, susceptibility to, 4}, 611136 (3) {Epilepsy, juvenile myoclonic, susceptibility to, 5}, 611136 (3)
GABRB2	Epileptic encephalopathy, infantile or early childhood, 2, 617829 (3)
GABRG2	Febrile seizures, familial, 8, 611277 (3) Epilepsy, generalized, with febrile seizures plus, type 3, 611277 (3) {Epilepsy, childhood absence, susceptibility to, 2}, 607681 (3)
GDF9	?Premature ovarian failure 14, 618014 (3)
GHR	{Hypercholesterolemia, familial, modifier of}, 143890 (3) Growth hormone insensitivity, partial, 604271 (3) Increased responsiveness to growth hormone, 604271 (3) Laron dwarfism, 262500 (3)
GM2A	GM2-gangliosidosis, AB variant, 272750 (3)
GRM6	Night blindness, congenital stationary (complete), 1B, autosomal recessive, 257270 (3)
HCN1	Epileptic encephalopathy, early infantile, 24, 615871 (3)
HEXB	Sandhoff disease, infantile, juvenile, and adult forms, 268800 (3)
HINT1	Neuromyotonia and axonal neuropathy, autosomal recessive, 137200 (3)
HMMR	{Breast cancer, susceptibility to}, 114480 (3)
HSPA9	Anemia, sideroblastic, 4, 182170 (3) Even-plus syndrome, 616854 (3)
IL13	{Allergic rhinitis, susceptibility to}, 607154 (3) {Asthma, susceptibility to}, 600807 (3)
IL31RA	?Amyloidosis, primary localized cutaneous, 2, 613955 (3)
IL7R	Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type, 608971 (3)
IRF1	Gastric cancer, somatic, 613659 (3) Myelodysplastic syndrome, preleukemic (3) Myelogenous leukemia, acute (3) Nonsmall cell lung cancer, somatic, 211980 (3)
IRGM	{Inflammatory bowel disease (Crohn disease) 19}, 612278 (3) {Mycobacterium tuberculosis, protection against}, 607948 (3)
ITGA2	?Glycoprotein Ia deficiency, 614200 (1)
KCNMB1	{Hypertension, diastolic, resistance to}, 608622 (3)
KIF2A	Cortical dysplasia, complex, with other brain malformations 3, 615411 (3)
KLHL3	Pseudohypoaldosteronism, type IID, 614495 (3)
MAP3K1	46XY sex reversal 6, 613762 (3)
MARVELD2	Deafness, autosomal recessive 49, 610153 (3)
MCC	Colorectal cancer, somatic, 114500 (3)
MCCC2	3-Methylcrotonyl-CoA carboxylase 2 deficiency, 210210 (3)
MEGF10	Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, 614399 (3) Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant, 614399 (3)
MSH3	Familial adenomatous polyposis 4, 617100 (3) Endometrial carcinoma, somatic, 608089 (3)
MSX2	Craniosynostosis 2, 604757 (3) Parietal foramina 1, 168500 (3) Parietal foramina with cleidocranial dysplasia, 168550 (3)
MTRR	Homocystinuria-megaloblastic anemia, cbl E type, 236270 (3) {Neural tube defects, folate-sensitive, susceptibility to}, 601634 (3)
MYOT	Myopathy, myofibrillar, 3, 609200 (3) Myopathy, spheroid body, 182920 (3)
NDST1	Mental retardation, autosomal recessive 46, 616116 (3)
NDUFAF2	Mitochondrial complex I deficiency, nuclear type 10, 618233 (3)
NDUFS4	Mitochondrial complex I deficiency, nuclear type 1, 252010 (3)
NDUFS6	Mitochondrial complex I deficiency, nuclear type 9, 618232 (3)
NIPAL4	Ichthyosis, congenital, autosomal recessive 6, 612281 (3)
NKX2-5	Atrial septal defect 7, with or without AV conduction defects, 108900 (3) Hypoplastic left heart syndrome 2, 614435 (3) Hypothyroidism, congenital nongoitrous, 5, 225250 (3) Conotruncal heart malformations, variable, 217095 (3) Tetralogy of Fallot, 187500 (3) Ventricular septal defect 3, 614432 (3)
NNT	Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency, 614736 (3)
NPR3	?Hypertension, salt-resistant (1)
NR3C1	Glucocorticoid resistance, 615962 (3)
NSD1	Leukemia, acute myeloid, 601626 (1) Sotos syndrome 1, 117550 (3)
NSUN2	Mental retardation, autosomal recessive 5, 611091 (3)
NUP155	?Atrial fibrillation 15, 615770 (3)
OSMR	Amyloidosis, primary localized cutaneous, 1, 105250 (3)
PCDH12	Microcephaly, seizures, spasticity, and brain calcification, 251280 (3)
PCSK1	{Obesity, susceptibility to, BMIQ12}, 612362 (3) Obesity with impaired prohormone processing, 600955 (3)
PDE8B	Pigmented nodular adrenocortical disease, primary, 3, 614190 (3) Striatal degeneration, autosomal dominant, 609161 (3)
PHYKPL	[?Phosphohydroxylysinuria], 615011 (3)
PIK3R1	Immunodeficiency 36, 616005 (3) ?Agammaglobulinemia 7, autosomal recessive, 615214 (3) SHORT syndrome, 269880 (3)
PITX1	Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly, 119800 (3) Liebenberg syndrome, 186550 (4)
PPARGC1B	{Obesity, variation in}, 601665 (3)
PPP2CA	Neurodevelopmental disorder and language delay with or without structural brain abnormalities, 618354 (3)
PROP1	Pituitary hormone deficiency, combined, 2, 262600 (3)
REEP2	?Spastic paraplegia 72, autosomal dominant, 615625 (3) ?Spastic paraplegia 72, autosomal recessive, 615625 (3)
SAR1B	Chylomicron retention disease, 246700 (3)
SDHA	Cardiomyopathy, dilated, 1GG, 613642 (3) Leigh syndrome, 256000 (3) Mitochondrial respiratory chain complex II deficiency, 252011 (3) Paragangliomas 5, 614165 (3)
SGCD	Cardiomyopathy, dilated, 1L, 606685 (3) Muscular dystrophy, limb-girdle, autosomal recessive 6, 601287 (3)
SH3PXD2B	Frank-ter Haar syndrome, 249420 (3)
SH3TC2	Charcot-Marie-Tooth disease, type 4C, 601596 (3) Mononeuropathy of the median nerve, mild, 613353 (3)
SIL1	Marinesco-Sjogren syndrome, 248800 (3)
SLC22A4	{Rheumatoid arthritis, susceptibility to}, 180300 (3)
SLC22A5	Carnitine deficiency, systemic primary, 212140 (3)
SLC26A2	Atelosteogenesis, type II, 256050 (3) Achondrogenesis Ib, 600972 (3) De la Chapelle dysplasia, 256050 (3) Diastrophic dysplasia, 222600 (3) Diastrophic dysplasia, broad bone-platyspondylic variant, 222600 (3) Epiphyseal dysplasia, multiple, 4, 226900 (3)
SLC34A1	Hypercalcemia, infantile, 2, 616963 (3) ?Fanconi renotubular syndrome 2, 613388 (3) Nephrolithiasis/osteoporosis, hypophosphatemic, 1, 612286 (3)
SLC36A2	Hyperglycinuria, 138500 (3) Iminoglycinuria, digenic, 242600 (3)
SLC45A2	Albinism, oculocutaneous, type IV, 606574 (3) [Skin/hair/eye pigmentation 5, black/nonblack hair], 227240 (3) [Skin/hair/eye pigmentation 5, dark/fair skin], 227240 (3) [Skin/hair/eye pigmentation 5, dark/light eyes], 227240 (3)
SLC6A19	Hartnup disorder, 234500 (3) Hyperglycinuria, 138500 (3) Iminoglycinuria, digenic, 242600 (3)
SLC6A3	{Nicotine dependence, protection against}, 188890 (3) Parkinsonism-dystonia, infantile, 1, 613135 (3)
SPINK5	Netherton syndrome, 256500 (3)
SPRY4	Hypogonadotropic hypogonadism 17 with or without anosmia, 615266 (3)
SQSTM1	Frontotemporal dementia and/or amyotrophic lateral sclerosis 3, 616437 (3) Myopathy, distal, with rimmed vacuoles, 617158 (3) Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset, 617145 (3) Paget disease of bone 3, 167250 (3)
TCOF1	Treacher Collins syndrome 1, 154500 (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)
TMEM173	STING-associated vasculopathy, infantile-onset, 615934 (3)
TRIM36	?Anencephaly, 206500 (3)
TRIO	Mental retardation, autosomal dominant 44, 617061 (3)
VCAN	Wagner syndrome 1, 143200 (3)
WDR36	Glaucoma 1, open angle, G, 609887 (3)
WWC1	[Memory, enhanced, QTL], 615602 (3)
XRCC4	Short stature, microcephaly, and endocrine dysfunction, 616541 (3)
ZSWIM6	Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features, 617865 (3) Acromelic frontonasal dysostosis, 603671 (3)

Genes at Clinical Genomics Database

ADAMTS2, ADRB2, AMACR, AP3B1, APC, ARSB, B4GALT7, C6, C7, C9, CAST, CCT5, CEP120, CTNNA1, DDX41, DIAPH1, DMGDH, DNAH5, DOCK2, F12, FAM134B, FBN2, FLT4, FOXI1, GABRA1, GABRG2, GHR, GM2A, GRM6, HCN1, HEXB, HSPA9, IL31RA, IL7R, KIF2A, KLHL3, MAP3K1, MARVELD2, MCCC2, MEGF10, MSH3, MSX2, MTRR, MYOT, NDST1, NDUFAF2, NDUFS4, NDUFS6, NIPAL4, NKX2-5, NNT, NR3C1, NSD1, NUP155, OSMR, PCSK1, PDE8B, PHYKPL, PIK3R1, PITX1, PROP1, REEP2, SAR1B, SDHA, SGCD, SH3PXD2B, SH3TC2, SIL1, SLC22A5, SLC26A2, SLC34A1, SLC36A2, SLC45A2, SLC6A19, SLC6A3, SPINK5, SPRY4, SQSTM1, TCOF1, TERT, TMEM173, VCAN, XRCC4, ZSWIM6,

ADAMTS2	Ehlers-Danlos syndrome, type VII
ADRB2	Beta-2-adrenoreceptor agonist, reduced response to
AMACR	Bile acid synthesis defect, congenital, 4 Alpha-methylacyl-CoA racemase deficiency
AP3B1	Hermansky-Pudlak syndrome 2
APC	Familial adenomatous polyposis Gardner syndrome Desmoid disease, hereditary
ARSB	Mucopolysaccharidosis type VI (Maroteaux-Lamy)
B4GALT7	Ehlers-Danlos syndrome with short stature and limb anomalies
C6	Complement component 6 deficiency
C7	Complement component 7 deficiency
C9	Complement component 9 deficiency
CAST	Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads (PLACK)
CCT5	Neuropathy, hereditary sensory, with spastic paraplegia
CEP120	Short-rib thoracic dysplasia 13 with or without polydactyly
CTNNA1	Hereditary diffuse gastric cancer, familial
DDX41	Familial myeloproliferative/lymphoproliferative neoplasms, multiple types, susceptibility to
DIAPH1	Deafness, autosomal dominant 1
DMGDH	Dimethylglycine dehydrogenase deficiency
DNAH5	Ciliary dyskinesia, primary, 3, with or without situs inversus
DOCK2	Immunodeficiency 40
F12	Angioedema, hereditary, type III
FAM134B	Neuropathy, hereditary sensory and autonomic, type IIB
FBN2	Congenital contractural arachnodactyly (Beals syndrome)
FLT4	Lymphedema, hereditary I (Milory disease)
FOXI1	Enlarged vestibular aqueduct Pendred syndrome
GABRA1	Epilepsy, juvenile myoclonic, susceptibility to, 5 Epilepsy, childhood absence, susceptibility to, 4 Epileptic encephalopathy, early infantile 19
GABRG2	Dravet syndrome Generalized epilepsy with febrile seizures plus, type 3 Familial febrile seizures 8 Epilepsy, childhood absence, susceptibility to, 2
GHR	Growth hormone insensitivity syndrome (Laron syndrome)
GM2A	GM2-gangliosidosis, AB variant
GRM6	Night blindness, congenital stationary, type 1B
HCN1	Epileptic encephalopathy, early infantile, 24
HEXB	Sandhoff disease
HSPA9	Anemia, sideroblastic 4
IL31RA	Amyloidois, primary localized cutaneous, 2
IL7R	Severe combined immunodeficiency, autosomal recessive, T-cell negative, B-cell positive, NK cell positive
KIF2A	Cortical dysplasia, complex, with other brain malformations 3
KLHL3	Pseudohypoaldosteronism, type IID
MAP3K1	46,XY sex reversal 6
MARVELD2	Deafness, autosomal recessive 49
MCCC2	3-Methylcrotonyl-CoA carboxylase 2 deficiency
MEGF10	Myopathy, early-onset, areflexia, respiratory distress, and dysphagia
MSH3	Endometrial carcinoma
MSX2	Craniosynostosis, type 2 Parietal foramina with cleidocranial dysplasia Parietal foramina 1
MTRR	Homocystinuria-megaloblastic anemia, cobalamin E type
MYOT	Myopathy, myofibrillar, 3
NDST1	Mental retardation, autosomal recessive 46
NDUFAF2	Mitochondrial complex I deficiency Leigh syndrome
NDUFS4	Mitochondrial complex I deficiency Leigh syndrome
NDUFS6	Mitochondrial complex I deficiency
NIPAL4	Ichthyosis, congenital, autosomal recessive
NKX2-5	Atrial septal defect 7, with or without AV conduction defects Conotruncal heart malformations Hypothyroidism, congenital nongoitrous, 5
NNT	Glucocorticoid deficiency 4
NR3C1	Glucocorticoid resistance
NSD1	Sotos syndrome Weaver syndrome Beckwith-Wiedemann syndrome
NUP155	Atrial fibrillation 15
OSMR	Amyloidosis, primary localized cutaneous, 1
PCSK1	Proprotein convertase 1/3 deficiency
PDE8B	Pigmented nodular adrenocortical disease, primary, 3
PHYKPL	Phosphohydroxylysinuria
PIK3R1	Agammaglobulinemia 7, autosomal recessive
PITX1	Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly Liebenberg syndrome
PROP1	Pituitary hormone deficiency, combined, 2
REEP2	Spastic paraplegia 72
SAR1B	Chylomicron retention disease (Anderson disease)
SDHA	Paragangliomas 5 Gastrointestinal stromal tumors Cardiomyopathy, dilated, 1GG Leigh syndrome/Mitochondrial respiratory chain complex II deficiency
SGCD	Cardiomyopathy, dilated, 1L Muscular dystrophy, limb-girdle, type 2F
SH3PXD2B	Frank-ter Haar syndrome
SH3TC2	Charcot-Marie-Tooth disease, type 4C Mononeuropathy of the median nerve, mild
SIL1	Marinesco-Sjogren syndrome
SLC22A5	Carnitine deficiency, systemic primary
SLC26A2	Achondrogenesis, type IB Atelosteogenesis II De la Chapelle dysplasia Diastrophic dysplasia Epiphyseal dysplasia, multiple, 4
SLC34A1	Fanconi renotubular syndrome 2 Nephrolithiasis/osteoporosis, hypophosphatemic, 1
SLC36A2	Hyperglycinuria Iminoglycinuria Iminoglycinuria, digenic
SLC45A2	Oculocutaneous albinism, type IV Skin/hair/eye pigmentation 5
SLC6A19	Hartnup disease
SLC6A3	Parkinsonism-dystonia, infantile
SPINK5	Netherton syndrome
SPRY4	Hypogonadotropic hypogonadism 17, with or without anosmia
SQSTM1	Paget disease of bone 3
TCOF1	Treacher Collins syndrome 1
TERT	Aplastic anemia Dyskeratosis congenita, autosomal dominant Dyskeratosis congenita, autosomal recessive Pulmonary fibrosis and/or bone marrow failure, telomere-related 1
TMEM173	STING-associated vasculopathy, infantile-onsent (SAVI)
VCAN	Wagner syndrome 1
XRCC4	Short stature, microcephaly, and endocrine dysfunction
ZSWIM6	Acromelic frontonasal dysostosis

Genes at HGMD

Summary

Number of Variants: 1118
Number of Genes: 326

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AC005609.1
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	16hpc01701_s1 genome	5	rs11321479 dbSNP Clinvar	140242451	1739.91	GC	G	PASS	1/1	42	FRAME_SHIFT	HIGH	None	0.63079	0.63080					None None	None None None None	PCDHA1\|0.053770874\|61.55%,PCDHA2\|0.022057729\|73.14%,PCDHA3\|0.065561586\|58.47%,PCDHA4\|0.052208094\|62.01%,PCDHA5\|0.043866789\|64.55%,PCDHA6\|0.050872533\|62.4%,PCDHA7\|0.028518768\|70.18%,PCDHA8\|0.015875262\|76.54%,PCDHA9\|0.018630148\|74.91%,PCDHA10\|0.087661567\|53.69%
	View	16hpc01701_s1 genome	5	.	140242452	0.0	C	.	LowGQX	.	0	FRAME_SHIFT	HIGH	None	0.63079	0.63080					None None	None None None None	PCDHA1\|0.053770874\|61.55%,PCDHA2\|0.022057729\|73.14%,PCDHA3\|0.065561586\|58.47%,PCDHA4\|0.052208094\|62.01%,PCDHA5\|0.043866789\|64.55%,PCDHA6\|0.050872533\|62.4%,PCDHA7\|0.028518768\|70.18%,PCDHA8\|0.015875262\|76.54%,PCDHA9\|0.018630148\|74.91%,PCDHA10\|0.087661567\|53.69%
	View	16hpc01701_s1 genome	5	rs251369 dbSNP Clinvar	140242479	729.62	T	A	LowGQ;LowGQX;SB	1/1	24	NON_SYNONYMOUS_CODING	MODERATE	None	0.62760	0.62760			0.84		None None	None None None None	PCDHA1\|0.053770874\|61.55%,PCDHA2\|0.022057729\|73.14%,PCDHA3\|0.065561586\|58.47%,PCDHA4\|0.052208094\|62.01%,PCDHA5\|0.043866789\|64.55%,PCDHA6\|0.050872533\|62.4%,PCDHA7\|0.028518768\|70.18%,PCDHA8\|0.015875262\|76.54%,PCDHA9\|0.018630148\|74.91%,PCDHA10\|0.087661567\|53.69%
AC136604.1
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	16hpc01701_s1 genome	5	.	179078309	9.8	G	T	LowGQ;LowGQX;SB	1/1	1	NON_SYNONYMOUS_CODING	MODERATE	None				0.02	0.99		None None	None None None None	None
ACTBL2
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	16hpc01701_s1 genome	5	.	56778016	4.97	A	G	LowGQX;LowQD;SB	0/1	3	SYNONYMOUS_CODING	LOW	None							None None	None None None None	ACTBL2\|0.152729251\|42.58%
	View	16hpc01701_s1 genome	5	.	56778023	4.97	G	T	LowGQX;SB	0/1	2	NON_SYNONYMOUS_CODING	MODERATE	None				0.01	0.90		None None	None None None None	ACTBL2\|0.152729251\|42.58%
	View	16hpc01701_s1 genome	5	.	56778102	4.97	C	A	LowGQX;SB	0/1	2	NON_SYNONYMOUS_CODING	MODERATE	None				0.17	0.54		None None	None None None None	ACTBL2\|0.152729251\|42.58%
	View	16hpc01701_s1 genome	5	.	56778353	9.8	C	A	LowGQ;LowGQX;SB	1/1	1	NON_SYNONYMOUS_CODING	MODERATE	None				0.00	0.78		None None	None None None None	ACTBL2\|0.152729251\|42.58%
	View	16hpc01701_s1 genome	5	.	56778355	9.8	C	A	LowGQ;LowGQX;SB	1/1	1	NON_SYNONYMOUS_CODING	MODERATE	None				0.02	0.56		None None	None None None None	ACTBL2\|0.152729251\|42.58%
	View	16hpc01701_s1 genome	5	.	56778519	9.8	G	T	LowGQ;LowGQX;SB	1/1	1	NON_SYNONYMOUS_CODING	MODERATE	None				0.06	0.89		None None	None None None None	ACTBL2\|0.152729251\|42.58%
	View	16hpc01701_s1 genome	5	rs747561123 dbSNP Clinvar	56778003	3.07	G	A	LowGQX;LowQD;SB	0/1	3	NON_SYNONYMOUS_CODING	MODERATE	None				0.01	0.91		None None	None None None None	ACTBL2\|0.152729251\|42.58%
	View	16hpc01701_s1 genome	5	.	56778444	9.8	C	A	LowGQ;LowGQX;SB	1/1	1	NON_SYNONYMOUS_CODING	MODERATE	None				0.01	0.07		None None	None None None None	ACTBL2\|0.152729251\|42.58%
ADAM19
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	16hpc01701_s1 genome	5	rs11465228 dbSNP Clinvar	157002695	363.63	C	T	PASS	0/1	42	NON_SYNONYMOUS_CODING	MODERATE	None	0.05931	0.05931	0.05824	0.42	0.00		None None	None None None None	ADAM19\|0.121857186\|47.16%
	View	16hpc01701_s1 genome	5	rs1422795 dbSNP Clinvar	156936364	2239.47	T	C	PASS	0/1	181	NON_SYNONYMOUS_CODING	MODERATE	None	0.41454	0.41450	0.42873	0.23	0.03		None None	None None None None	ADAM19\|0.121857186\|47.16%
	View	16hpc01701_s1 genome	5	.	156822644	9.8	G	T	LowGQ;LowGQX;SB	1/1	1	None	None	None							None None	None None None None	ADAM19\|0.121857186\|47.16%
	View	16hpc01701_s1 genome	5	rs11134767 dbSNP Clinvar	156908653	2372.18	C	T	PASS	0/1	156	NON_SYNONYMOUS_CODING	MODERATE	None	0.02356	0.02356	0.04737	0.90	0.00		None None	None None None None	ADAM19\|0.121857186\|47.16%
	View	16hpc01701_s1 genome	5	rs10067096 dbSNP Clinvar	156917340	396.21	A	C	PASS	0/1	38	NON_SYNONYMOUS_CODING	MODERATE	None	0.12041	0.12040	0.19660	0.30	0.17		None None	None None None None	ADAM19\|0.121857186\|47.16%
ADAMTS16
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	16hpc01701_s1 genome	5	rs1863968 dbSNP Clinvar	5146395	3411.79	A	G	PASS	0/1	247	NON_SYNONYMOUS_CODING	MODERATE	None	0.48283	0.48280	0.44804	0.06	0.00		None None	None None None None	ADAMTS16\|0.017832591\|75.4%
	View	16hpc01701_s1 genome	5	rs270208 dbSNP Clinvar	5140632	1711.51	T	C	PASS	1/1	51	SYNONYMOUS_CODING	LOW	None	0.62440	0.62440	0.40759				None None	None None None None	ADAMTS16\|0.017832591\|75.4%
	View	16hpc01701_s1 genome	5	rs6555335 dbSNP Clinvar	5200281	717.44	C	T	PASS	0/1	68	SYNONYMOUS_CODING	LOW	None	0.72524	0.72520	0.29491				None None	None None None None	ADAMTS16\|0.017832591\|75.4%
	View	16hpc01701_s1 genome	5	rs16875054 dbSNP Clinvar	5209210	1059.45	G	A	PASS	0/1	102	NON_SYNONYMOUS_CODING	MODERATE	None	0.05591	0.05591	0.02743	0.12	0.05		None None	None None None None	ADAMTS16\|0.017832591\|75.4%
	View	16hpc01701_s1 genome	5	rs1019747 dbSNP Clinvar	5146377	2250.25	T	C	PASS	0/1	222	NON_SYNONYMOUS_CODING	MODERATE	None	0.49441	0.49440	0.44242	0.05	0.01		None None	None None None None	ADAMTS16\|0.017832591\|75.4%
ADAMTS2
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