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VARIANT EFFECT	FUNCTIONAL CLASS	IMPACT
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Genes:
ABLIM2, AC136604.1, ACOXL, ADAMTS14, ADD2, ADRBK1, AKR1B10, ALG9, ALS2CR11, ANGPTL7, ANKLE1, ANKRD20A1, ANKRD27, ANKRD52, ARHGEF2, ARHGEF9, ARID5B, ARSG, ASMT, ASPN, ASTN1, ATXN1, ATXN2, BCL7C, BSN, BST2, C11orf24, C15orf56, C22orf42, CACNA1A, CALCOCO1, CAPN15, CCDC64B, CD93, CDC27, CDHR5, CEBPA, CELSR1, CENPT, CFH, CFLAR, CHRNA3, CIB4, COL18A1, CPS1, CTBP2, CXXC1, CYB5R2, CYTH3, CYTH4, DENND2D, DHRS1, DHRS7C, DKFZP761J1410, DMKN, DMRT3, DNA2, DNAH10, DNAJC1, DNHD1, DPEP1, DZANK1, EDC4, EIF2AK3, ELMO3, ERF, ESPNL, F2RL3, FAM114A1, FAM171A2, FAM71A, FAM71B, FHOD1, FMN2, GCN1L1, GFRA4, GIGYF2, GLIS1, GPA33, GPATCH2L, GPER1, GPR15, GPR39, GPX1, GRAMD1B, GRM4, GTF3C2, HAVCR1, HELZ2, HIST1H2BM, HOXD13, HSPA12A, HYDIN, IBA57-AS1, IDNK, IFITM10, IGHV3-21, IGHV3-30, IGKV3-11, IL23R, ILK, INCENP, IRF2BPL, ISM2, ITIH1, KBTBD4, KCNV2, KDM4D, KIF13A, KIF1A, KRT3, KRTAP10-7, LHX9, LONP1, LPCAT3, MAFA, MAMDC4, MAML2, MAML3, MAN1C1, MAP1S, MAP3K1, MAP3K4, MAP3K9, MARS, MBOAT7, MED29, MEF2A, MESP2, MLXIP, MLYCD, MPRIP, MROH2A, MSH3, MUC12, MUC3A, MYB, MYH7B, NBPF10, NBPF14, NCAM1, NDEL1, NHS, NLRC3, NLRP5, NMRAL1, NOC2L, NOTCH4, NPAS1, NSMCE1, NUB1, NUP54, OR10G9, ORAI1, OTOG, OTUD7B, PAPLN, PCDH8, PCDHB10, PCDHGA10, PDIA5, PFKL, PHLDA1, PIP5K1A, PKD1L2, PLCZ1, PLD1, PLEK, PLEKHM2, PNN, PRAMEF1, PRB3, PRODH2, PROX1, PUF60, PXMP2, RAPGEF2, RBCK1, RCOR2, RECQL4, RHBDL3, RHPN1, RIMBP3, RINL, RNF44, RP11-766F14.2, RP4-758J18.2, RPS6KB2, RYK, SCUBE1, SCUBE2, SDAD1, SEC14L5, SEMA3F, SHOX2, SIGLEC1, SIN3A, SIPA1L3, SIRT4, SIRT7, SKOR1, SLC12A7, SLC22A1, SLC22A25, SLC25A18, SLC2A2, SLC37A4, SLC38A8, SLC46A1, SLC4A4, SMURF1, SNX32, SPATA7, SPNS2, SPRR2G, SPRY4, SRGAP2, STK32C, STRIP2, SURF1, TANC2, TBCD, TGFB1I1, THAP11, TLN1, TMEM130, TMEM247, TMPPE, TNS4, TPSB2, TRABD2B, TRIM72, TTLL3, TTN, TXNDC11, UBL4B, UBXN6, UGT2A1, UGT8, ULK3, UNC79, USH2A, USP41, VWA3B, WAPAL, WDR1, WFDC2, ZBTB17, ZBTB43, ZDHHC13, ZDHHC23, ZFC3H1, ZFYVE1, ZKSCAN5, ZNF324B, ZNF418, ZNF454, ZNF521, ZNF689, ZNF717, ZNF831, ZNF835, ZSWIM3,

+ Genes associated with diseases 61

Genes at Omim

ALG9, ARHGEF2, ARHGEF9, ARSG, ASPN, ATXN1, ATXN2, CACNA1A, CEBPA, CFH, CHRNA3, COL18A1, CPS1, DNA2, EIF2AK3, ERF, FMN2, GIGYF2, GPX1, HOXD13, HYDIN, IL23R, IRF2BPL, KCNV2, KIF1A, KRT3, LONP1, MAFA, MAML2, MAP3K1, MARS, MBOAT7, MEF2A, MESP2, MLYCD, MSH3, MYB, NHS, ORAI1, OTOG, PFKL, PLCZ1, PLD1, PUF60, RAPGEF2, RBCK1, RECQL4, SIN3A, SIPA1L3, SLC2A2, SLC37A4, SLC38A8, SLC46A1, SLC4A4, SPATA7, SPRY4, SURF1, TBCD, TTN, USH2A, VWA3B,

ALG9	Gillessen-Kaesbach-Nishimura syndrome, 263210 (3) Congenital disorder of glycosylation, type Il, 608776 (3)
ARHGEF2	?Neurodevelopmental disorder with midbrain and hindbrain malformations, 617523 (3)
ARHGEF9	Epileptic encephalopathy, early infantile, 8, 300607 (3)
ARSG	Usher syndrome, type IV, 618144 (3)
ASPN	{Lumbar disc degeneration}, 603932 (3) {Osteoarthritis susceptibility 3}, 607850 (3)
ATXN1	Spinocerebellar ataxia 1, 164400 (3)
ATXN2	{Parkinson disease, late-onset, susceptibility to}, 168600 (3) Spinocerebellar ataxia 2, 183090 (3) {Amyotrophic lateral sclerosis, susceptibility to, 13}, 183090 (3)
CACNA1A	Epileptic encephalopathy, early infantile, 42, 617106 (3) Episodic ataxia, type 2, 108500 (3) Migraine, familial hemiplegic, 1, 141500 (3) Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, 141500 (3) Spinocerebellar ataxia 6, 183086 (3)
CEBPA	Leukemia, acute myeloid, somatic, 601626 (3) ?Leukemia, acute myeloid, 601626 (3)
CFH	{Hemolytic uremic syndrome, atypical, susceptibility to, 1}, 235400 (3) Basal laminar drusen, 126700 (3) {Macular degeneration, age-related, 4}, 610698 (3) Complement factor H deficiency, 609814 (3)
CHRNA3	{Lung cancer susceptibility 2}, 612052 (3)
COL18A1	Knobloch syndrome, type 1, 267750 (3)
CPS1	Carbamoylphosphate synthetase I deficiency, 237300 (3) {Pulmonary hypertension, neonatal, susceptibility to}, 615371 (3) {Venoocclusive disease after bone marrow transplantation} (3)
DNA2	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6, 615156 (3) ?Seckel syndrome 8, 615807 (3)
EIF2AK3	Wolcott-Rallison syndrome, 226980 (3)
ERF	Chitayat syndrome, 617180 (3) Craniosynostosis 4, 600775 (3)
FMN2	Mental retardation, autosomal recessive 47, 616193 (3)
GIGYF2	{Parkinson disease 11}, 607688 (3)
GPX1	Hemolytic anemia due to glutathione peroxidase deficiency, 614164 (1)
HOXD13	Brachydactyly, type D, 113200 (3) Brachydactyly, type E, 113300 (3) ?Brachydactyly-syndactyly syndrome, 610713 (3) Syndactyly, type V, 186300 (3) Synpolydactyly 1, 186000 (3)
HYDIN	Ciliary dyskinesia, primary, 5, 608647 (3)
IL23R	{Inflammatory bowel disease 17, protection against}, 612261 (3) {Psoriasis, protection against}, 605606 (3)
IRF2BPL	Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures, 618088 (3)
KCNV2	Retinal cone dystrophy 3B, 610356 (3)
KIF1A	Mental retardation, autosomal dominant 9, 614255 (3) Neuropathy, hereditary sensory, type IIC, 614213 (3) Spastic paraplegia 30, autosomal recessive, 610357 (3)
KRT3	Meesmann corneal dystrophy, 122100 (3)
LONP1	CODAS syndrome, 600373 (3)
MAFA	Insulinomatosis and diabetes mellitus, 147630 (3)
MAML2	Mucoepidermoid salivary gland carcinoma (3)
MAP3K1	46XY sex reversal 6, 613762 (3)
MARS	Charcot-Marie-Tooth disease, axonal, type 2U, 616280 (3) Interstitial lung and liver disease, 615486 (3)
MBOAT7	Mental retardation, autosomal recessive 57, 617188 (3)
MEF2A	{Coronary artery disease, autosomal dominant, 1}, 608320 (3)
MESP2	Spondylocostal dysostosis 2, autosomal recessive, 608681 (3)
MLYCD	Malonyl-CoA decarboxylase deficiency, 248360 (3)
MSH3	Familial adenomatous polyposis 4, 617100 (3) Endometrial carcinoma, somatic, 608089 (3)
MYB	{T-cell acute lymphoblastic leukemia} (3)
NHS	Cataract 40, X-linked, 302200 (3) Nance-Horan syndrome, 302350 (3)
ORAI1	Immunodeficiency 9, 612782 (3) Myopathy, tubular aggregate, 2, 615883 (3)
OTOG	Deafness, autosomal recessive 18B, 614945 (3)
PFKL	Hemolytic anemia due to phosphofructokinase deficiency (1)
PLCZ1	?Spermatogenic failure 17, 617214 (3)
PLD1	Cardiac valvular defect, developmental, 212093 (3)
PUF60	Verheij syndrome, 615583 (3)
RAPGEF2	?Epilepsy, familial adult myoclonic, 7, 618075 (3)
RBCK1	Polyglucosan body myopathy 1 with or without immunodeficiency, 615895 (3)
RECQL4	Baller-Gerold syndrome, 218600 (3) RAPADILINO syndrome, 266280 (3) Rothmund-Thomson syndrome, 268400 (3)
SIN3A	Witteveen-Kolk syndrome, 613406 (3)
SIPA1L3	?Cataract 45, 616851 (3)
SLC2A2	Fanconi-Bickel syndrome, 227810 (3) {Diabetes mellitus, noninsulin-dependent}, 125853 (3)
SLC37A4	Glycogen storage disease Ib, 232220 (3) Glycogen storage disease Ic, 232240 (3)
SLC38A8	Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis, 609218 (3)
SLC46A1	Folate malabsorption, hereditary, 229050 (3)
SLC4A4	Renal tubular acidosis, proximal, with ocular abnormalities, 604278 (3)
SPATA7	Leber congenital amaurosis 3, 604232 (3) Retinitis pigmentosa, juvenile, autosomal recessive, 604232 (3)
SPRY4	Hypogonadotropic hypogonadism 17 with or without anosmia, 615266 (3)
SURF1	Charcot-Marie-Tooth disease, type 4K, 616684 (3) Leigh syndrome, due to COX IV deficiency, 256000 (3)
TBCD	Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, 617193 (3)
TTN	Cardiomyopathy, dilated, 1G, 604145 (3) Cardiomyopathy, familial hypertrophic, 9, 613765 (3) Muscular dystrophy, limb-girdle, autosomal recessive 10, 608807 (3) Myopathy, proximal, with early respiratory muscle involvement, 603689 (3) Salih myopathy, 611705 (3) Tibial muscular dystrophy, tardive, 600334 (3)
USH2A	Retinitis pigmentosa 39, 613809 (3) Usher syndrome, type 2A, 276901 (3)
VWA3B	?Spinocerebellar ataxia, autosomal recessive 22, 616948 (3)

Genes at Clinical Genomics Database

ALG9, ARHGEF9, ATXN1, ATXN2, CACNA1A, CEBPA, CFH, COL18A1, CPS1, DNA2, EIF2AK3, ERF, FMN2, GIGYF2, HOXD13, KCNV2, KIF1A, KRT3, LONP1, MAP3K1, MARS, MESP2, MLYCD, MSH3, NHS, ORAI1, OTOG, RBCK1, RECQL4, SIPA1L3, SLC2A2, SLC37A4, SLC38A8, SLC46A1, SLC4A4, SPATA7, SPRY4, SURF1, TTN, USH2A, VWA3B,

ALG9	Congenital disorder of glycosylation, type Il
ARHGEF9	Epileptic encephalopathy, early infantile, 8
ATXN1	Spinocerebellar ataxia 1
ATXN2	Spinocerebellar ataxia 2
CACNA1A	Episodic ataxia, type 2 Migraine, familial hemiplegic 1
CEBPA	Acute myeloid leukemia, familial
CFH	Hemolytic uremic syndrome, atypical Complement factor H deficiency
COL18A1	Knobloch syndrome 1
CPS1	Carbamoylphosphate synthetase I deficiency
DNA2	Progressive external ophthalmoplegia with mitochondrial deletions, autosomal dominant, 6 Seckel syndrome 8
EIF2AK3	Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus Wolcott-Rallison syndrome
ERF	Craniosynostosis 4
FMN2	Mental retardation, autosomal recessive, 47
GIGYF2	Parkinson disease, autosomal dominant, 11
HOXD13	Brachydactyly-syndactyly syndrome Brachydactyly, type D Brachydactyly, type E1 Syndactyly, type V Synopolydactyly, type I, Synopolydactyly, type II Synopolydactyly with clefting, autosomal recessive
KCNV2	Retinal cone dystrophy 3B
KIF1A	Mental retardation, autosomal dominant 9 Neuropathy, hereditary sensory, type IIC Spastic paraplegia 30, autosomal recessive
KRT3	Meesmann corneal dystrophy
LONP1	Cerebral, Ocular, Dental, Auricular, and Skeletal anomalies (CODAS) syndrome
MAP3K1	46,XY sex reversal 6
MARS	Interstitial lung and liver disease
MESP2	Spondylocostal dysostosis 2, autosomal recessive
MLYCD	Malonyl-CoA decarboxylase deficiency
MSH3	Endometrial carcinoma
NHS	Nance-Horan syndrome Cataract 40
ORAI1	Immunodeficiency 9
OTOG	Deafness, autosomal recessive 18B
RBCK1	Polyglucosan body myopathy 1
RECQL4	Baller-Gerold syndrome RAPADILINO syndrome Rothmund-Thomson syndrome
SIPA1L3	Cataract 45
SLC2A2	Fanconi-Bickel syndrome Glycogen storage disease XI Neonatal diabetes mellitus
SLC37A4	Glycogen storage disease Ib Glycogen storage disease Ic Glycogen storage disease Id
SLC38A8	Foveal hypoplasia 2
SLC46A1	Folate malabsorption, hereditary
SLC4A4	Renal tubular acidosis, proximal, with ocular abnormalities and/or migraine
SPATA7	Leber congenital amaurosis 3 Retitinitis pigmentosa, juvenile, SPATA7-related
SPRY4	Hypogonadotropic hypogonadism 17, with or without anosmia
SURF1	Charcot-Marie-Tooth disease type 4K Leigh syndrome
TTN	Cardiomyopathy, familial hypertrophic 9 Cardiomyopathy, dilated, 1G
USH2A	Usher syndrome, type 2A
VWA3B	Spinocerebellar ataxia, autosomal recessive 22

Genes at HGMD

Summary

Number of Variants: 889
Number of Genes: 263

Export to: CSV

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ABLIM2
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	16hpc01703_s1 genome	4	.	8009904	9.3	G	T	LowGQX	0/1	4	SYNONYMOUS_CODING	LOW	None							None None	None None None None	ABLIM2\|0.046835245\|63.64%
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	16hpc01703_s1 genome	5	rs113370076 dbSNP Clinvar	179079104	9.3	G	A	LowGQX	0/1	3	NON_SYNONYMOUS_CODING	MODERATE	None	0.16194	0.16190		0.26	0.00		None None	None None None None	None
ACOXL
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	16hpc01703_s1 genome	2	.	111875267	9.3	C	A	LowGQX	0/1	3	STOP_GAINED	HIGH	None							None None	None None None None	ACOXL\|0.057491176\|60.56%
	View	16hpc01703_s1 genome	2	.	111875291	9.3	C	A	LowGQX	0/1	3	SYNONYMOUS_CODING	LOW	None							None None	None None None None	ACOXL\|0.057491176\|60.56%
ADAMTS14
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	16hpc01703_s1 genome	10	.	72489873	9.3	G	T	LowGQX	0/1	4	STOP_GAINED	HIGH	None							None None	None None None None	ADAMTS14\|0.04385867\|64.56%
ADD2
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	16hpc01703_s1 genome	2	.	70910764	9.29	C	A	LowGQX	0/1	4	STOP_GAINED	HIGH	None							None None	None None None None	ADD2\|0.191898863\|37.61%
ADRBK1
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	16hpc01703_s1 genome	11	.	67034180	9.3	C	A	LowGQX	0/1	3	NON_SYNONYMOUS_CODING	MODERATE	None				0.02	1.00		None None	None None None None	ADRBK1\|0.645969984\|10.23%
AKR1B10
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	16hpc01703_s1 genome	7	rs779772332 dbSNP Clinvar	134221487	9.3	A	G	LowGQX	0/1	4	NON_SYNONYMOUS_CODING	MODERATE	None				0.14	0.05		None None	None None None None	AKR1B10\|0.014962544\|77.15%
	View	16hpc01703_s1 genome	7	rs866704961 dbSNP Clinvar	134221482	9.3	C	T	LowGQX	0/1	4	SYNONYMOUS_CODING	LOW	None							None None	None None None None	AKR1B10\|0.014962544\|77.15%
ALG9
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	16hpc01703_s1 genome	11	.	111742146	0.0	G	.	LowGQX	.	0	FRAME_SHIFT	HIGH	None	1.00000	1.00000	0.00040				None None	None None None None	ALG9\|0.352156163\|23.94%
ALS2CR11
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	16hpc01703_s1 genome	2	.	202356558	9.3	T	C	LowGQX	0/1	3	SYNONYMOUS_CODING	LOW	None							None None	None None None None	ALS2CR11\|0.003713566\|87.41%
ANGPTL7
Omim - GeneCards - NCBI