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VARIANT EFFECT	FUNCTIONAL CLASS	IMPACT
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Genes:
ABCD4, ABHD12B, ADAM20, ADCK1, ADSSL1, AE000662.92, AHNAK2, AHSA1, AJUBA, AK7, AKAP6, ATG2B, ATL1, ATXN3, BCL2L2-PABPN1, BDKRB1, BDKRB2, BEGAIN, BMP4, BRF1, BRMS1L, BTBD6, C14orf144, C14orf166B, C14orf37, C14orf64, C14orf80, CATSPERB, CCDC175, CCDC85C, CCDC88C, CDC42BPB, CDCA4, CDH24, CEP170B, CHD8, CHGA, CHURC1, CKB, CMA1, COCH, COQ6, CPSF2, CRIP2, CTAGE5, DACT1, DCAF5, DHRS2, DHRS4, DHRS4L2, DIO2, DLGAP5, DLK1, DNAAF2, DTD2, ELMSAN1, EMC9, EML1, EML5, ESR2, ESRRB, EXD2, FAM161B, FAM179B, FAM181A, FBLN5, FBXO33, FBXO34, FOXA1, FOXG1, FOXN3, FRMD6, FSCB, FUT8, GALC, GALNT16, GOLGA5, GPR132, GPR33, GSTZ1, GZMB, GZMH, HEATR4, HEATR5A, HOMEZ, HSP90AA1, HSPA2, IFI27L1, IFT43, IGHA1, IGHA2, IGHD, IGHE, IGHG1, IGHG2, IGHG3, IGHG4, IGHM, IGHV1-45, IGHV1-46, IGHV3-15, IGHV3-23, IGHV3-64, IGHV3-7, IGHV3-73, IGHV5-51, INF2, IPO4, IRF2BPL, IRF9, ITPK1, JAG2, JPH4, KHNYN, KIAA0586, KIF26A, KLHL33, L2HGDH, LRFN5, LRP10, LTBP2, MAP3K9, MAP4K5, MDGA2, MIA2, MLH3, MMP14, MOAP1, MTHFD1, MYH6, MYH7, NFATC4, NGDN, NID2, NIN, NKX2-1, NOP9, NRDE2, NRXN3, NYNRIN, OR10G2, OR11G2, OR11H6, OR4K1, OR4M1, OR5AU1, OTUB2, PAPLN, PARP2, PCK2, PCNX, PLEK2, PNN, POLE2, POMT2, PRKCH, PRKD1, PSMA6, PSMB11, PTGR2, REC8, RIN3, RNASE2, RNASE7, RPGRIP1, RPS6KA5, RTL1, SALL2, SDR39U1, SEC23A, SERPINA1, SERPINA11, SERPINA3, SERPINA5, SERPINA6, SERPINA9, SETD3, SFTA3, SGPP1, SIPA1L1, SIVA1, SIX6, SLC39A9, SLC7A7, SLC7A8, SLIRP, SMOC1, SPATA7, SPTB, SPTLC2, SRP54, SSTR1, STON2, SUPT16H, SYNE2, SYNE3, TBPL2, TECPR2, TEP1, TM9SF1, TMEM179, TMEM253, TNFAIP2, TOX4, TRAV21, TRAV6, TRIM9, TRMT5, TRMT61A, TSHR, TTC6, TTC7B, TTLL5, TXNDC16, UNC79, VRK1, VRTN, VSX2, WARS, WDR20, WDR25, XRCC3, YLPM1, ZBTB42, ZC2HC1C, ZDHHC22, ZFHX2, ZFP36L1, ZFYVE21, ZFYVE26, ZNF219,

+ Genes associated with diseases 62

Genes at Omim

ABCD4, ADSSL1, AK7, ATL1, ATXN3, BMP4, BRF1, CCDC88C, CHD8, COCH, COQ6, DACT1, EML1, ESR2, ESRRB, FBLN5, FOXG1, FUT8, GALC, GSTZ1, IFT43, IGHG2, IGHM, INF2, IRF2BPL, KIAA0586, L2HGDH, LTBP2, MLH3, MMP14, MTHFD1, MYH6, MYH7, NIN, NKX2-1, PCK2, POMT2, PRKCH, PRKD1, PSMA6, RPGRIP1, SALL2, SEC23A, SERPINA1, SERPINA3, SIX6, SLC7A7, SMOC1, SPATA7, SPTB, SPTLC2, SYNE2, TECPR2, TRMT5, TSHR, TTLL5, VRK1, WARS, XRCC3, ZBTB42, ZFHX2, ZFYVE26,

ABCD4	Methylmalonic aciduria and homocystinuria, cblJ type, 614857 (3)
ADSSL1	Myopathy, distal, 5, 617030 (3)
AK7	?Spermatogenic failure 27, 617965 (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)
BRF1	Cerebellofaciodental syndrome, 616202 (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)
DACT1	?Townes-Brocks syndrome 2, 617466 (3)
EML1	Band heterotopia, 600348 (3)
ESR2	?Ovarian dysgenesis 8, 618187 (3)
ESRRB	Deafness, autosomal recessive 35, 608565 (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)
FOXG1	Rett syndrome, congenital variant, 613454 (3)
FUT8	Congenital disorder of glycosylation with defective fucosylation 1, 618005 (3)
GALC	Krabbe disease, 245200 (3)
GSTZ1	[Maleylacetoacetate isomerase deficiency], 617596 (3)
IFT43	?Cranioectodermal dysplasia 3, 614099 (3) ?Retinitis pigmentosa 81, 617871 (3) Short-rib thoracic dysplasia 18 with polydactyly, 617866 (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)
IRF2BPL	Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures, 618088 (3)
KIAA0586	Joubert syndrome 23, 616490 (3) Short-rib thoracic dysplasia 14 with polydactyly, 616546 (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)
NIN	?Seckel syndrome 7, 614851 (3)
NKX2-1	Chorea, hereditary benign, 118700 (3) Choreoathetosis, hypothyroidism, and neonatal respiratory distress, 610978 (3) {Thyroid cancer, nonmedullary, 1}, 188550 (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)
PRKD1	Congenital heart defects and ectodermal dysplasia, 617364 (3)
PSMA6	{Myocardial infarction, susceptibility to}, 608446 (3)
RPGRIP1	Cone-rod dystrophy 13, 608194 (3) Leber congenital amaurosis 6, 613826 (3)
SALL2	?Coloboma, ocular, autosomal recessive, 216820 (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)
TECPR2	Spastic paraplegia 49, autosomal recessive, 615031 (3)
TRMT5	Combined oxidative phosphorylation deficiency 26, 616539 (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)
TTLL5	Cone-rod dystrophy 19, 615860 (3)
VRK1	Pontocerebellar hypoplasia type 1A, 607596 (3)
WARS	Neuronopathy, distal hereditary motor, type IX, 617721 (3)
XRCC3	{Melanoma, cutaneous malignant, 6}, 613972 (3) {Breast cancer, susceptibility to}, 114480 (3)
ZBTB42	?Lethal congenital contracture syndrome 6, 616248 (3)
ZFHX2	?Marsili syndrome, 147430 (3)
ZFYVE26	Spastic paraplegia 15, autosomal recessive, 270700 (3)

Genes at Clinical Genomics Database

ABCD4, ATL1, ATXN3, BMP4, BRF1, CCDC88C, CHD8, COCH, COQ6, DNAAF2, ESRRB, FBLN5, FOXG1, GALC, IFT43, IGHM, INF2, KIAA0586, L2HGDH, LTBP2, MLH3, MMP14, MTHFD1, MYH6, MYH7, NIN, NKX2-1, POMT2, RPGRIP1, SALL2, SEC23A, SERPINA1, SERPINA6, SIX6, SLC7A7, SMOC1, SPATA7, SPTB, SYNE2, TECPR2, TRMT5, TSHR, TTLL5, VRK1, VSX2, ZBTB42, ZFYVE26,

ABCD4	Methylmalonic aciduria and homocystinuria, cblJ type
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
BRF1	Cerebellofaciodental syndrome
CCDC88C	Spinocerebellar ataxia 40
CHD8	Autism, susceptibility to 18
COCH	Deafness, autosomal dominant 9
COQ6	Coenzyme Q10 deficiency, primary 6
DNAAF2	Ciliary dyskinesia, primary, 10
ESRRB	Deafness, autosomal recessive 35
FBLN5	Macular degeneration, age-related 3 Cutis laxa, autosomal dominant 2 Cutis laxa, autosomal recessive, type IA
FOXG1	Rett syndrome, congenital variant
GALC	Krabbe disease
IFT43	Cranioectodermal dysplasia 3
IGHM	Agammaglobulinemia 1
INF2	Focal segmental glomerulosclerosis 5 Charcot-Marie-Tooth disease, dominant intermediate E
KIAA0586	Joubert syndrome 23 Short rib thoracic dysplasia 14 with polydactyly
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
NIN	Seckel syndrome 7
NKX2-1	Choreoathetosis, hypothyroidism, and neonatal respiratory distress Thyroid cancer, nonmedullary 1
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
RPGRIP1	Leber congenital amaurosis 6 Cone-rod dystrophy 13
SALL2	Ocular coloboma
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
TECPR2	Spastic paraplegia 49, autosomal recessive
TRMT5	Combined oxidative phosphorylation deficiency 26
TSHR	Hyperthyroidism, familial, gestational Hyperthyroidism, nonautoimmune Hypothyroidism, congenital, nongoitrous, 1
TTLL5	Cone-rod dystrophy 19
VRK1	Pontocerebellar hypoplasia type 1A
VSX2	Microphthalmia, isolated 2 Microphthalmia, isolated, with coloboma 3
ZBTB42	Lethal congenital contracture syndrome 6
ZFYVE26	Spastic paraplegia 15

Genes at HGMD

Summary

Number of Variants: 704
Number of Genes: 231

Export to: CSV

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TOX4
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	15ac02303_s1 genome	14	rs571846793 dbSNP Clinvar	21961062	9.8	T	A	LowGQ;LowGQX;SB	1/1	1	SYNONYMOUS_CODING	LOW	None	0.00020	0.00020					None None	None None None None	TOX4\|0.370163987\|22.69%
JAG2
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	15ac02303_s1 genome	14	rs200023823 dbSNP Clinvar	105634391	373.63	C	T	PASS	0/1	22	SYNONYMOUS_CODING	LOW	None	0.00020	0.00020	0.00032				None None	None None None None	JAG2\|0.207083459\|35.89%
IGHV5-51
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	15ac02303_s1 genome	14	rs72686843 dbSNP Clinvar	107034920	9.8	C	T	LowGQ;LowGQX;SB	1/1	1	NON_SYNONYMOUS_CODING	MODERATE	None	0.00040	0.00040		0.58	0.00		None None	None None None None	None
IGHA1
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	15ac02303_s1 genome	14	rs367746573 dbSNP Clinvar	106173660	1720.84	C	T	PASS	0/1	236	NON_SYNONYMOUS_CODING	MODERATE	None	0.00040	0.00040	0.00047	0.06	0.93		None None	None None None None	None
IGHV3-64
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	15ac02303_s1 genome	14	rs111853090 dbSNP Clinvar	107113858	9.8	A	G	LowGQ;LowGQX;SB	1/1	1	SYNONYMOUS_CODING	LOW	None	0.00040	0.00040					None None	None None None None	None
IGHV5-51
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	15ac02303_s1 genome	14	rs200278759 dbSNP Clinvar	107034847	9.8	C	T	LowGQ;LowGQX;SB	1/1	1	NON_SYNONYMOUS_CODING	MODERATE	None	0.00040	0.00040		0.63	0.00		None None	None None None None	None
IGHG4
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	15ac02303_s1 genome	14	rs375299437 dbSNP Clinvar	106092375	1366.56	G	A	PASS	0/1	76	NON_SYNONYMOUS_CODING	MODERATE	None	0.00060	0.00060	0.00058	0.00	0.94		None None	None None None None	None
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	15ac02303_s1 genome	14	rs10682918 dbSNP Clinvar	89037482	851.48	C	CAT	PASS	0/1	51	None	None	None	0.00060	0.51240					None None	None None None None	ZC3H14\|0.454776108\|17.95%
INF2
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	15ac02303_s1 genome	14	rs200369827 dbSNP Clinvar	105180633	1522.15	G	A	PASS	0/1	132	NON_SYNONYMOUS_CODING	MODERATE	None	0.00060	0.00060	0.00157	1.00	0.00		None None	None None None None	INF2\|0.011319835\|79.76%
LRFN5
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	15ac02303_s1 genome	14	rs142220815 dbSNP Clinvar	42360932	2581.35	C	T	PASS	0/1	230	NON_SYNONYMOUS_CODING	MODERATE	None	0.00060	0.00060	0.00077	0.13	0.01		None None	None None None None	LRFN5\|0.548984546\|13.77%
Omim - GeneCards - NCBI