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VARIANT EFFECT	FUNCTIONAL CLASS	IMPACT
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Genes:
A4GNT, ABCC3, AC008132.13, AC090616.2, ACAN, ADCK5, AGFG2, AGTRAP, ALDH1L2, ANKRD20A4, ANKRD36C, ANKRD6, AP003062.1, AR, ARHGEF15, ATF5, B3GNT3, BARHL2, BDH1, BDP1, C10orf120, C12orf79, C16orf62, C7orf26, C8orf74, C9orf147, CAPNS1, CBWD1, CC2D2B, CCDC163P, CCNK, CDA, CDAN1, CDC27, CDHR3, CDK12, CEP170B, CGGBP1, CHD3, CLUH, CMPK2, CNTN5, CNTNAP3B, COL6A1, CPNE5, CPSF3L, CRIPAK, CTDSP2, CYB5R3, DAAM2, DAPK3, DBN1, DCLK2, DNAH10, DNAJB2, DNASE1L2, DNHD1, DUX4, DUX4L3, DUX4L4, DUX4L5, DUX4L7, EBNA1BP2, ECM1, EIF4E, ERBB2IP, FADS6, FAM104B, FAM120B, FAM186A, FBXO43, FMN2, FRG2B, FRG2C, GFRA2, GLTSCR1, GMPPB, GPD1, GTF2A2, HDGFRP2, HEATR2, HEATR5A, HIST1H2BO, HNRNPCL1, HRNR, HTR1E, HTT, IGHG1, IGHV1-24, IGHV6-1, IGKC, IGKV4-1, ILVBL, INPP5F, JAG1, JMY, KANSL1, KCNN3, KCNQ2, KCTD13, KIAA0368, KIAA0430, KIAA0930, KIAA1033, KIAA1244, KIAA1522, KIF19, KIR2DL4, KIR2DS4, KIR3DL1, KIR3DL2, KRT18, KRT73, KRTAP1-3, KRTAP4-8, KRTAP9-1, LAMC3, LAPTM4B, MANEA, MAP3K10, MAPK7, MARCH10, MAST2, MCUR1, MEX3B, MROH8, MTPAP, MUC1, MUC16, MUC17, MUC2, MUC20, MUC4, MUC6, MYH14, MYO3A, MYO9B, NBPF10, NCAM1, NOTCH2, NR5A1, NUDT18, OR2T35, OSBPL6, PABPC3, PDPR, PGR, PHLDA3, PLCH2, PLEKHG6, PLIN4, POM121L7, PRAMEF13, PRAMEF17, PRAMEF22, PRAMEF7, PRSS3, PRSS38, PTPN23, RAPGEF2, RAVER2, RGSL1, RP11-1407O15.2, RP11-156E8.1, RP11-683L23.1, RPGR, RPL14, RTEL1, SACS, SALL3, SAMD1, SCN4A, SENP3, SEPT7, SETD8, SHF, SHROOM3, SLC22A18AS, SLC38A10, SLC45A1, SOX9, SPRR1B, SRCAP, STARD9, SYNE1, SYNGR2, TBC1D3B, TEKT4, TIMM10B, TMEM145, TPRX1, TRBV10-1, TRPV1, TSHZ1, TUBB8P7, UBE2I, UBXN11, UNC45A, USP4, VWDE, VWF, WFIKKN1, WIPF2, WWC1, XKR6, XRCC4, ZC3H12C, ZIC5, ZNF497, ZNF575, ZNF626, ZNF717, ZNF746,

+ Genes associated with diseases 43

Genes at Omim

ACAN, AR, BDP1, CCNK, CDAN1, CHD3, COL6A1, CYB5R3, DNAJB2, ECM1, EIF4E, FMN2, GMPPB, GPD1, HTT, IGKC, JAG1, KANSL1, KCNQ2, KIR3DL1, KRT18, LAMC3, MTPAP, MUC1, MYH14, MYO3A, MYO9B, NOTCH2, NR5A1, PGR, RAPGEF2, RPGR, RTEL1, SACS, SCN4A, SLC45A1, SOX9, SRCAP, SYNE1, TSHZ1, VWF, WWC1, XRCC4,

ACAN	?Spondyloepiphyseal dysplasia, Kimberley type, 608361 (3) Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans, 165800 (3) Spondyloepimetaphyseal dysplasia, aggrecan type, 612813 (3)
AR	Androgen insensitivity, 300068 (3) Androgen insensitivity, partial, with or without breast cancer, 312300 (3) Hypospadias 1, X-linked, 300633 (3) {Prostate cancer, susceptibility to}, 176807 (3) Spinal and bulbar muscular atrophy of Kennedy, 313200 (3)
BDP1	?Deafness, autosomal recessive 112, 618257 (3)
CCNK	?Intellectual developmental disorder with hypertelorism and distinctive facies, 618147 (3)
CDAN1	Dyserythropoietic anemia, congenital, type Ia, 224120 (3)
CHD3	Snijders Blok-Campeau syndrome, 618205 (3)
COL6A1	Bethlem myopathy 1, 158810 (3) Ullrich congenital muscular dystrophy 1, 254090 (3)
CYB5R3	Methemoglobinemia, type I, 250800 (3) Methemoglobinemia, type II, 250800 (3)
DNAJB2	Spinal muscular atrophy, distal, autosomal recessive, 5, 614881 (3)
ECM1	Urbach-Wiethe disease, 247100 (3)
EIF4E	{Autism, susceptibility to, 19}, 615091 (3)
FMN2	Mental retardation, autosomal recessive 47, 616193 (3)
GMPPB	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14, 615350 (3) Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14, 615351 (3) Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14, 615352 (3)
GPD1	Hypertriglyceridemia, transient infantile, 614480 (3)
HTT	Huntington disease, 143100 (3) Lopes-Maciel-Rodan syndrome, 617435 (3)
IGKC	Kappa light chain deficiency, 614102 (3)
JAG1	Alagille syndrome 1, 118450 (3) ?Deafness, congenital heart defects, and posterior embryotoxon, 617992 (3) Tetralogy of Fallot, 187500 (3)
KANSL1	Koolen-De Vries syndrome, 610443 (3)
KCNQ2	Epileptic encephalopathy, early infantile, 7, 613720 (3) Myokymia, 121200 (3) Seizures, benign neonatal, 1, 121200 (3)
KIR3DL1	{AIDS, delayed/rapid progression to}, 609423 (3)
KRT18	Cirrhosis, cryptogenic, 215600 (3) {Cirrhosis, noncryptogenic, susceptibility to}, 215600 (3)
LAMC3	Cortical malformations, occipital, 614115 (3)
MTPAP	?Spastic ataxia 4, autosomal recessive, 613672 (3)
MUC1	Medullary cystic kidney disease 1, 174000 (3)
MYH14	Deafness, autosomal dominant 4A, 600652 (3) ?Peripheral neuropathy, myopathy, hoarseness, and hearing loss, 614369 (3)
MYO3A	Deafness, autosomal recessive 30, 607101 (3)
MYO9B	{Celiac disease, susceptibility to, 4}, 609753 (3)
NOTCH2	Alagille syndrome 2, 610205 (3) Hajdu-Cheney syndrome, 102500 (3)
NR5A1	Adrenocortical insufficiency, 612964 (3) Premature ovarian failure 7, 612964 (3) 46, XX sex reversal 4, 617480 (3) 46XY sex reversal 3, 612965 (3) Spermatogenic failure 8, 613957 (3)
PGR	?Progesterone resistance, 264080 (2)
RAPGEF2	?Epilepsy, familial adult myoclonic, 7, 618075 (3)
RPGR	Cone-rod dystrophy, X-linked, 1, 304020 (3) Macular degeneration, X-linked atrophic, 300834 (3) Retinitis pigmentosa 3, 300029 (3) Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness, 300455 (3)
RTEL1	Dyskeratosis congenita, autosomal dominant 4, 615190 (3) Dyskeratosis congenita, autosomal recessive 5, 615190 (3) Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3, 616373 (3)
SACS	Spastic ataxia, Charlevoix-Saguenay type, 270550 (3)
SCN4A	Hyperkalemic periodic paralysis, type 2, 170500 (3) Hypokalemic periodic paralysis, type 2, 613345 (3) Myasthenic syndrome, congenital, 16, 614198 (3) Myotonia congenita, atypical, acetazolamide-responsive, 608390 (3) Paramyotonia congenita, 168300 (3)
SLC45A1	Intellectual developmental disorder with neuropsychiatric features, 617532 (3)
SOX9	Campomelic dysplasia with autosomal sex reversal, 114290 (3) Campomelic dysplasia, 114290 (3) Acampomelic campomelic dysplasia, 114290 (3)
SRCAP	Floating-Harbor syndrome, 136140 (3)
SYNE1	Emery-Dreifuss muscular dystrophy 4, autosomal dominant, 612998 (3) Spinocerebellar ataxia, autosomal recessive 8, 610743 (3)
TSHZ1	Aural atresia, congenital, 607842 (3)
VWF	von Willebrand disease, type 1, 193400 (3) von Willebrand disease, types 2A, 2B, 2M, and 2N, 613554 (3) von Willibrand disease, type 3, 277480 (3)
WWC1	[Memory, enhanced, QTL], 615602 (3)
XRCC4	Short stature, microcephaly, and endocrine dysfunction, 616541 (3)

Genes at Clinical Genomics Database

ACAN, AR, CDAN1, COL6A1, CYB5R3, DNAJB2, DUX4, ECM1, FMN2, GMPPB, GPD1, HTT, IGKC, JAG1, KANSL1, KCNQ2, KIAA1033, LAMC3, MTPAP, MUC1, MYH14, MYO3A, NOTCH2, NR5A1, RPGR, RTEL1, SACS, SCN4A, SOX9, SRCAP, SYNE1, TSHZ1, VWF, XRCC4,

ACAN	Spondyloepimetaphyseal dysplasia, aggrecan type Spondyloepiphyseal dysplasia, Kimberley type Osteochondritis dissecans, short stature, and early-onset osteoarthritis
AR	Androgen insensitivity Androgen insensitivity, partial
CDAN1	Anemia, dyserythropoietic congenital, type Ia
COL6A1	Ullrich congenital muscular dystrophy 1 Bethlem myopathy 1
CYB5R3	Methemoglobinemia due to methemoglobin reductase deficiency
DNAJB2	Spinal muscular atrophy, distal, autosomal recessive, 5 Charcot-Marie-Tooth disease, axonal, type 2T
DUX4	Facioscapulohumeral muscular dystrophy, type 2
ECM1	Lipoid proteinosis
FMN2	Mental retardation, autosomal recessive, 47
GMPPB	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 Limb-girdle muscular dystrophy-dystroglycanopathy, type B, 14 Limb-girdle muscular dystrophy-dystroglycanopathy, type C, 14
GPD1	Hypertriglyceridemia, transient infantile
HTT	Huntington disease
IGKC	Immunoglobulin kappa light chain deficiency
JAG1	Alagille syndrome
KANSL1	Koolen-de Vries syndrom
KCNQ2	Epileptic encephalopathy, early infantile, 7 Benign familial neonatal seizures, 1 Myokymia
KIAA1033	Mental retardation, autosomal recessive 43
LAMC3	Cortical malformations, occipital
MTPAP	Spastic ataxia 4, autosomal recessive
MUC1	Medullary cystic kidney disease 1
MYH14	Deafness, autosomal dominant 4 Deafness, autosomal dominant 4B Peripheral neuropathy, myopathy, hoarseness, and hearing loss
MYO3A	Deafness, autosomal recessive 30
NOTCH2	Alagille syndrome 2
NR5A1	Adrenocortical insufficiency 46, XY sex reversal, 3 Premature ovarian failure 7
RPGR	Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness
RTEL1	Pulmonary fibrosis and/or bone marrow failure, telomere-related 3 Dyskeratosis congenita, autosomal dominant 4 Dyskeratosis congenita, autosomal recessive 5
SACS	Spastic ataxia, Charlevoix-Saguenay type
SCN4A	Paramyotonia congenita Hyperkalemic periodic paralysis, type 2 Hypokalemic periodic paralysis, type 2 Normokalemic potassium-sensitive periodic paralysis Malignant hyperthermia, susceptibility to Myasthenic syndrome, congenital, 16 Myotonia, potassium-aggravated
SOX9	46, XY sex reversal 10 Campomelic dysplasia
SRCAP	Floating-Harbor syndrome
SYNE1	Emery-Dreifuss muscular dystrophy 4, autosomal dominant Spinocerebellar ataxia, autosomal recessive 8
TSHZ1	Aural atresia, congenital
VWF	von Willebrand disease, type 1 von Willebrand disease, type 2A von Willebrand disease, type 3
XRCC4	Short stature, microcephaly, and endocrine dysfunction

Genes at HGMD

Summary

Number of Variants: 5478
Number of Genes: 213

Export to: CSV

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A4GNT
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	combined sample_59.variant21	3	.	137843688	737.24	G	A	PASS	0/1	62	SYNONYMOUS_CODING	LOW	None							None None	None None None None	A4GNT\|0.020635171\|73.87%
ABCC3
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	combined sample_59.variant21	17	.	48736592	420.73	C	G	PASS	0/1	49	None	None	None				0.04	1.00		None None	None None None None	ABCC3\|0.044769991\|64.26%
AC008132.13
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	combined sample_59.variant21	22	.	18835163	859.28	G	A	PASS	0/1	81	NON_SYNONYMOUS_CODING	MODERATE	None				0.17	0.04		None None	None None None None	None
AC090616.2
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	combined sample_59.variant21	17	.	30469470	167.94	CC...	CC...	PASS	3/1	45	GENE_FUSION_REVERESE	HIGH	None							None None	None None None None	None
ACAN
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	combined sample_59.variant21	15	.	89399986	2345.17	C	CA...	PASS	0/2	35	CODON_CHANGE_PLUS_CODON_INSERTION	MODERATE	None							None None	None None None None	ACAN\|0.017538305\|75.58%
ADCK5
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	combined sample_59.variant21	8	.	145617657	711.96	CA...	CC...	PASS	0/2	148	None	None	None							None None	None None None None	ADCK5\|0.009712798\|81.05%
AGFG2
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	combined sample_59.variant21	7	.	100160498	878.7	C	T	PASS	0/1	145	NON_SYNONYMOUS_CODING	MODERATE	None				0.00	0.99		None None	None None None None	AGFG2\|0.11533807\|48.22%
AGTRAP
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	combined sample_59.variant21	1	.	11807526	1361.08	C	T	PASS	0/1	153	NON_SYNONYMOUS_CODING	MODERATE	None				0.23	0.52		None None	None None None None	AGTRAP\|0.011672573\|79.47%
ALDH1L2
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	combined sample_59.variant21	12	.	105459059	798.39	C	T	PASS	0/1	80	NON_SYNONYMOUS_CODING	MODERATE	None				0.34	0.01		None None	None None None None	ALDH1L2\|0.155583388\|42.19%
ANKRD20A4
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	combined sample_59.variant21	9	.	69423700	499.42	G	A	DRAGENHardSNP	0/1	73	NON_SYNONYMOUS_CODING	MODERATE	None				1.00	0.00		None None	None None None None	ANKRD20A4\|0.002453356\|89.79%