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VARIANT EFFECT	FUNCTIONAL CLASS	IMPACT
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Genes:
ABCD4, AKT1, APEX1, ATL1, ATXN3, BCL2L2-PABPN1, BDKRB2, BMP4, CCDC88C, CDC42BPB, CHD8, CHGA, CMA1, COCH, COQ6, DICER1, DIO2, DNAAF2, ESRRB, FANCM, FBLN5, FLVCR2, FOXA1, FRMD6, FSCB, FUT8, GALC, GOLGA5, GSTZ1, GZMB, HSP90AA1, IGHA1, IGHG2, IGHM, INF2, JAG2, L2HGDH, LGALS3, LRFN5, LTBP2, MLH3, MMP14, MTHFD1, MYH6, MYH7, NDUFB1, NFATC4, NFKBIA, PARP2, PAX9, PCK2, POLE2, POMT2, PRKCH, PTGER2, PTPN21, PYGL, RABGGTA, RDH12, RIPK3, RNASE3, RPGRIP1, SEC23A, SERPINA1, SERPINA10, SERPINA3, SERPINA6, SIX6, SLC7A7, SMOC1, SPATA7, SPTB, SPTLC2, SUPT16H, SYNE2, TEP1, TGM1, TNFAIP2, TRAF3, TRIP11, TSHR, VRK1, VSX2, XRCC3, ZFP36L1, ZFYVE26,

+ Genes associated with diseases 53

Genes at Omim

ABCD4, AKT1, ATL1, ATXN3, BMP4, CCDC88C, CHD8, COCH, COQ6, DICER1, ESRRB, FANCM, FBLN5, FLVCR2, FUT8, GALC, GSTZ1, IGHG2, IGHM, INF2, L2HGDH, LTBP2, MLH3, MMP14, MTHFD1, MYH6, MYH7, NFKBIA, PAX9, PCK2, POMT2, PRKCH, PTGER2, PYGL, RDH12, RPGRIP1, SEC23A, SERPINA1, SERPINA3, SIX6, SLC7A7, SMOC1, SPATA7, SPTB, SPTLC2, SYNE2, TGM1, TRAF3, TRIP11, TSHR, VRK1, XRCC3, ZFYVE26,

ABCD4	Methylmalonic aciduria and homocystinuria, cblJ type, 614857 (3)
AKT1	Breast cancer, somatic, 114480 (3) Colorectal cancer, somatic, 114500 (3) Cowden syndrome 6, 615109 (3) {Schizophrenia, susceptibility to}, 181500 (2) Ovarian cancer, somatic, 167000 (3) Proteus syndrome, somatic, 176920 (3)
ATL1	Neuropathy, hereditary sensory, type ID, 613708 (3) Spastic paraplegia 3A, autosomal dominant, 182600 (3)
ATXN3	Machado-Joseph disease, 109150 (3)
BMP4	Microphthalmia, syndromic 6, 607932 (3) Orofacial cleft 11, 600625 (3)
CCDC88C	Hydrocephalus, congenital, 1, 236600 (3) ?Spinocerebellar ataxia 40, 616053 (3)
CHD8	{Autism, susceptibility to, 18}, 615032 (3)
COCH	Deafness, autosomal dominant 9, 601369 (3) ?Deafness, autosomal recessive 110, 618094 (3)
COQ6	Coenzyme Q10 deficiency, primary, 6, 614650 (3)
DICER1	GLOW syndrome, somatic mosaic, 618272 (3) Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors, 138800 (3) Pleuropulmonary blastoma, 601200 (3) Rhabdomyosarcoma, embryonal, 2, 180295 (3)
ESRRB	Deafness, autosomal recessive 35, 608565 (3)
FANCM	?Premature ovarian failure 15, 618096 (3) Spermatogenic failure 28, 618086 (3)
FBLN5	Cutis laxa, autosomal dominant 2, 614434 (3) Cutis laxa, autosomal recessive, type IA, 219100 (3) Macular degeneration, age-related, 3, 608895 (3) Neuropathy, hereditary, with or without age-related macular degeneration, 608895 (3)
FLVCR2	Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome, 225790 (3)
FUT8	Congenital disorder of glycosylation with defective fucosylation 1, 618005 (3)
GALC	Krabbe disease, 245200 (3)
GSTZ1	[Maleylacetoacetate isomerase deficiency], 617596 (3)
IGHG2	IgG2 deficiency, selective (3)
IGHM	Agammaglobulinemia 1, 601495 (3)
INF2	Glomerulosclerosis, focal segmental, 5, 613237 (3) Charcot-Marie-Tooth disease, dominant intermediate E, 614455 (3)
L2HGDH	L-2-hydroxyglutaric aciduria, 236792 (3)
LTBP2	Glaucoma 3, primary congenital, D, 613086 (3) Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma, 251750 (3) ?Weill-Marchesani syndrome 3, recessive, 614819 (3)
MLH3	Colorectal cancer, hereditary nonpolyposis, type 7, 614385 (3) Colorectal cancer, somatic, 114500 (3) {Endometrial cancer, susceptibility to}, 608089 (3)
MMP14	?Winchester syndrome, 277950 (3)
MTHFD1	Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia, 617780 (3) {Neural tube defects, folate-sensitive, susceptibility to}, 601634 (3)
MYH6	Atrial septal defect 3, 614089 (3) Cardiomyopathy, dilated, 1EE, 613252 (3) Cardiomyopathy, hypertrophic, 14, 613251 (3) {Sick sinus syndrome 3}, 614090 (3)
MYH7	Cardiomyopathy, dilated, 1S, 613426 (3) Cardiomyopathy, hypertrophic, 1, 192600 (3) Laing distal myopathy, 160500 (3) Left ventricular noncompaction 5, 613426 (3) Myopathy, myosin storage, autosomal dominant, 608358 (3) Myopathy, myosin storage, autosomal recessive, 255160 (3) Scapuloperoneal syndrome, myopathic type, 181430 (3)
NFKBIA	Ectodermal dysplasia and immunodeficiency 2, 612132 (3)
PAX9	Tooth agenesis, selective, 3, 604625 (3)
PCK2	PEPCK deficiency, mitochondrial, 261650 (1)
POMT2	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, 613150 (3) Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2, 613156 (3) Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2, 613158 (3)
PRKCH	{Cerebral infarction, susceptibility to}, 601367 (3)
PTGER2	{Asthma, aspirin-induced, susceptibility to}, 208550 (3)
PYGL	Glycogen storage disease VI, 232700 (3)
RDH12	Leber congenital amaurosis 13, 612712 (3)
RPGRIP1	Cone-rod dystrophy 13, 608194 (3) Leber congenital amaurosis 6, 613826 (3)
SEC23A	Craniolenticulosutural dysplasia, 607812 (3)
SERPINA1	Hemorrhagic diathesis due to antithrombin Pittsburgh, 613490 (3) Emphysema due to AAT deficiency, 613490 (3) Emphysema-cirrhosis, due to AAT deficiency, 613490 (3) {Pulmonary disease, chronic obstructive, susceptibility to}, 606963 (1)
SERPINA3	Alpha-1-antichymotrypsin deficiency (3) Cerebrovascular disease, occlusive (3)
SIX6	Optic disc anomalies with retinal and/or macular dystrophy, 212550 (3)
SLC7A7	Lysinuric protein intolerance, 222700 (3)
SMOC1	Microphthalmia with limb anomalies, 206920 (3)
SPATA7	Leber congenital amaurosis 3, 604232 (3) Retinitis pigmentosa, juvenile, autosomal recessive, 604232 (3)
SPTB	Anemia, neonatal hemolytic, fatal or near-fatal, 617948 (3) Elliptocytosis-3, 617948 (3) Spherocytosis, type 2, 616649 (3)
SPTLC2	Neuropathy, hereditary sensory and autonomic, type IC, 613640 (3)
SYNE2	Emery-Dreifuss muscular dystrophy 5, autosomal dominant, 612999 (3)
TGM1	Ichthyosis, congenital, autosomal recessive 1, 242300 (3)
TRAF3	{?Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 5}, 614849 (3)
TRIP11	Achondrogenesis, type IA, 200600 (3) Osteochondrodysplasia, 184260 (3)
TSHR	Hyperthyroidism, familial gestational, 603373 (3) Hyperthyroidism, nonautoimmune, 609152 (3) Hypothyroidism, congenital, nongoitrous, 1 275200 (3) Thyroid adenoma, hyperfunctioning, somatic (3) Thyroid carcinoma with thyrotoxicosis (3)
VRK1	Pontocerebellar hypoplasia type 1A, 607596 (3)
XRCC3	{Melanoma, cutaneous malignant, 6}, 613972 (3) {Breast cancer, susceptibility to}, 114480 (3)
ZFYVE26	Spastic paraplegia 15, autosomal recessive, 270700 (3)

Genes at Clinical Genomics Database

ABCD4, AKT1, ATL1, ATXN3, BMP4, CCDC88C, CHD8, COCH, COQ6, DICER1, DNAAF2, ESRRB, FANCM, FBLN5, FLVCR2, GALC, IGHM, INF2, L2HGDH, LTBP2, MLH3, MMP14, MTHFD1, MYH6, MYH7, NFKBIA, PAX9, POMT2, PYGL, RDH12, RPGRIP1, SEC23A, SERPINA1, SERPINA6, SIX6, SLC7A7, SMOC1, SPATA7, SPTB, SYNE2, TGM1, TRAF3, TRIP11, TSHR, VRK1, VSX2, ZFYVE26,

ABCD4	Methylmalonic aciduria and homocystinuria, cblJ type
AKT1	Cowden syndrome 6 Proteus syndrome
ATL1	Neuropathy, hereditary sensory, type 1D Spastic paraplegia 3, autosomal dominant
ATXN3	Spinocerebellar ataxia 3 (Machado-Joseph disease)
BMP4	Microphthalmia, syndromic 6 Orofacial cleft 11
CCDC88C	Spinocerebellar ataxia 40
CHD8	Autism, susceptibility to 18
COCH	Deafness, autosomal dominant 9
COQ6	Coenzyme Q10 deficiency, primary 6
DICER1	DICER1 syndrome
DNAAF2	Ciliary dyskinesia, primary, 10
ESRRB	Deafness, autosomal recessive 35
FANCM	Fanconi anemia type M
FBLN5	Macular degeneration, age-related 3 Cutis laxa, autosomal dominant 2 Cutis laxa, autosomal recessive, type IA
FLVCR2	Proliferative vasculopathy and hydraencephaly-hydrocephaly syndrome
GALC	Krabbe disease
IGHM	Agammaglobulinemia 1
INF2	Focal segmental glomerulosclerosis 5 Charcot-Marie-Tooth disease, dominant intermediate E
L2HGDH	L-2-hydroxyglutaric aciduria
LTBP2	Glaucoma 3, primary congenital, D Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma Weill-Marchesani syndrome 3
MLH3	Colorectal cancer, hereditary nonpolyposis type 7 Endometrial carcinoma
MMP14	Winchester syndrome
MTHFD1	Severe combined immunodeficiency
MYH6	Cardiomyopathy, dilated, 1EE Cardiomyopathy, familial hypertrophic 14
MYH7	Cardiomyopathy, dilated, 1S Cardiomyopathy, familial hypertrophic Myopathy, distal Myopathy, myosin storage, autosomal recessive
NFKBIA	Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency
PAX9	Tooth agenesis, selective, 3
POMT2	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C 2
PYGL	Glycogen storage disease VI
RDH12	Leber congenital amaurosis 13 Retinitis pigmentosa 53
RPGRIP1	Leber congenital amaurosis 6 Cone-rod dystrophy 13
SEC23A	Craniolenticulosutural dysplasia
SERPINA1	Alpha-1-Antitrypsin deficiency
SERPINA6	Corticosteroid-binding globulin deficiency
SIX6	Microphthalmia, isolated, with cataract 2 Optic disc anomalies with retinal and/or macular dystrophy
SLC7A7	Lysinuric protein intolerance
SMOC1	Microphthalmia with limb anomalies
SPATA7	Leber congenital amaurosis 3 Retitinitis pigmentosa, juvenile, SPATA7-related
SPTB	Spherocytosis, type 2 Ellipsocytosis, type 3 Anemia, neonatal hemolytic
SYNE2	Emery-Dreifuss muscular dystrophy 5, autosomal dominant
TGM1	Ichthyosis, congenital, autosomal recessive 1
TRAF3	Herpes simplex encephalitis, susceptibility to, 3
TRIP11	Achondrogenesis, type IA
TSHR	Hyperthyroidism, familial, gestational Hyperthyroidism, nonautoimmune Hypothyroidism, congenital, nongoitrous, 1
VRK1	Pontocerebellar hypoplasia type 1A
VSX2	Microphthalmia, isolated 2 Microphthalmia, isolated, with coloboma 3
ZFYVE26	Spastic paraplegia 15

Genes at HGMD

Summary

Number of Variants: 241
Number of Genes: 86

Export to: CSV

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ABCD4
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	wanguard_s1	14	rs4148077 dbSNP Clinvar	74759477	1651.87	C	T	PASS	0/1	124	NON_SYNONYMOUS_CODING	MODERATE	None	0.27037	0.27040	0.30747	1.00	0.00		None None	None None None None	ABCD4\|0.201608796\|36.57%
	View	wanguard_s1	14	rs4148078 dbSNP Clinvar	74759301	1013.38	G	T	PASS	0/1	86	SYNONYMOUS_CODING	LOW	None	0.26298	0.26300	0.29925				None None	None None None None	ABCD4\|0.201608796\|36.57%
	View	wanguard_s1	14	rs35073715 dbSNP Clinvar	74759059	1324.94	G	C	PASS	0/1	95	NON_SYNONYMOUS_CODING	MODERATE	None	0.00919	0.00919	0.01961	0.17	0.05		None None	None None None None	ABCD4\|0.201608796\|36.57%
	View	wanguard_s1	14	rs3742801 dbSNP Clinvar	74759006	845.52	C	T	PASS	0/1	89	NON_SYNONYMOUS_CODING	MODERATE	None	0.27037	0.27040	0.30724	0.31	0.00		None None	None None None None	ABCD4\|0.201608796\|36.57%
	View	wanguard_s1	14	rs2301345 dbSNP Clinvar	74766352	523.48	A	G	PASS	0/1	47	SYNONYMOUS_CODING	LOW	None	0.26258	0.26260	0.29902				None None	None None None None	ABCD4\|0.201608796\|36.57%
AKT1
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	wanguard_s1	14	rs1130233 dbSNP Clinvar	105239894	831.0	C	T	PASS	0/1	74	SYNONYMOUS_CODING	LOW	None	0.32248	0.32250	0.20163				None None	None None None None	AKT1\|0.999993361\|0.05%
APEX1
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	wanguard_s1	14	rs1130409 dbSNP Clinvar	20925154	1078.65	T	G	PASS	1/1	32	NON_SYNONYMOUS_CODING	MODERATE	None	0.37560	0.37560	0.43557	1.00	0.00		None None	None None None None	APEX1\|0.756632015\|6.94%
ATL1
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	wanguard_s1	14	rs1060197 dbSNP Clinvar	51057727	3100.62	G	A	PASS	1/1	111	SYNONYMOUS_CODING	LOW	None	0.82149	0.82150	0.20414				None None	None None None None	ATL1\|0.525719843\|14.74%
ATXN3
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	wanguard_s1	14	rs1048755 dbSNP Clinvar	92548785	4160.88	C	T	PASS	1/1	140	NON_SYNONYMOUS_CODING	MODERATE	None	0.32508	0.32510	0.27287	0.13	0.04		None None	None None None None	ATXN3\|0.681306976\|9.03%
	View	wanguard_s1	14	rs16999141 dbSNP Clinvar	92549586	2350.53	G	A	PASS	1/1	80	SYNONYMOUS_CODING	LOW	None	0.56669	0.56670	0.45840				None None	None None None None	ATXN3\|0.681306976\|9.03%
BCL2L2-PABPN1
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	wanguard_s1	14	rs910332 dbSNP Clinvar	23777374	2456.25	A	G	PASS	1/1	85	NON_SYNONYMOUS_CODING	MODERATE	None	0.99940	0.99940	0.00231	0.54	0.00		None None	None None None None	BCL2L2\|0.580284397\|12.57%,BCL2L2-PABPN1\|0.816191843\|5.42%
BDKRB2
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	wanguard_s1	14	rs5224 dbSNP Clinvar	96707457	636.97	A	G	PASS	0/1	47	SYNONYMOUS_CODING	LOW	None	0.85903	0.85900	0.11748				None None	None None None None	BDKRB2\|0.06104553\|59.58%
BMP4
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	wanguard_s1	14	rs17563 dbSNP Clinvar	54417522	1081.32	A	G	PASS	1/1	32	NON_SYNONYMOUS_CODING	MODERATE	None	0.32568	0.32570	0.45002	0.72	0.01		None None	None None None None	BMP4\|0.999824824\|0.22%
CCDC88C
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