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VARIANT EFFECT	FUNCTIONAL CLASS	IMPACT
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Genes:
ABCA7, ABCB5, AC135178.1, ADAMTS16, ADCYAP1, ALDH16A1, AMACR, AMH, ANKS4B, APCDD1, APOBEC3B, AQP3, ARFRP1, ARVCF, ASPM, ATF6B, ATP6V1G2-DDX39B, BX255923.1, C3, C4A, C4B, C6orf222, C9, CACNA1E, CAMKV, CCT5, CDC42BPG, CIDEA, CLCN7, CLTCL1, CMYA5, COG7, DDX41, DDX58, DKFZP434E1119, DNAH11, DNAH5, DOCK8, DTX3L, ELMO2, EMC10, EVI5L, FAM8A1, FBXO42, FKBPL, FLII, FOXF2, FREM1, FUK, FUT6, GLDC, GLIS3, GML, GPX4, GRHPR, GUK1, HAUS5, HCG27, HCN2, HMCN2, HMHA1, HTR5A, HTT, IBA57, IL7R, INSRR, JAK2, KANK1, KANSL2, KCNC3, KCNV2, KDM4C, KIAA0430, KIAA1432, KISS1R, KLRG1, KMT2A, LAMA1, LENG8, LIFR, LILRB2, LLGL1, LMNB2, MAP2K2, MAP4K5, MEI1, MLLT3, MOXD1, MTAP, MTRR, MUC13, MYLIP, MYOM1, NDFIP1, NDUFS7, NEDD9, NELFCD, NSUN2, NTN5, NUP155, OR4K2, OR6V1, OSMR, PCDHGC3, PCID2, PIEZO2, PIP5K1C, PIWIL2, PKD1L1, PLEKHH3, PLIN4, POLR2A, POLRMT, PPP2R5D, PRX, PTGER4, PTPRD, RAPGEF3, RBM22, RP11-302B13.5, RTEL1-TNFRSF6B, RUSC1, SCN2A, SCN5A, SH3GL1, SHPK, SIGLEC7, SIK3, SLC16A3, SLC22A13, SLC24A2, SLC6A19, SMARCA2, SURF6, SUSD1, TAF1L, TAS2R13, TAS2R14, TBXA2R, TEK, TICAM1, TLR10, TLR6, TNFRSF6B, TNXB, TOPORS, TRIO, TRMT6, TRPM7, TYRO3, UQCC2, USP47, USP6, WDFY4, WDR82, WHSC1L1, ZNF564,

+ Genes associated with diseases 65

Genes at Omim

ABCA7, AMACR, AMH, APCDD1, AQP3, ASPM, C3, C4A, C4B, C9, CACNA1E, CCT5, CLCN7, COG7, DDX41, DDX58, DNAH11, DNAH5, DOCK8, ELMO2, FREM1, FUT6, GLDC, GLIS3, GPX4, GRHPR, HTT, IBA57, IL7R, JAK2, KANK1, KCNC3, KCNV2, KISS1R, KMT2A, LAMA1, LIFR, LMNB2, MAP2K2, MTAP, MTRR, NDUFS7, NSUN2, NUP155, OSMR, PIEZO2, PIP5K1C, PKD1L1, PPP2R5D, PRX, SCN2A, SCN5A, SH3GL1, SHPK, SIK3, SLC6A19, SMARCA2, TBXA2R, TEK, TICAM1, TNXB, TOPORS, TRIO, TRPM7, UQCC2,

ABCA7	{Alzheimer disease 9, susceptibility to}, 608907 (3)
AMACR	Alpha-methylacyl-CoA racemase deficiency, 614307 (3) Bile acid synthesis defect, congenital, 4, 214950 (3)
AMH	Persistent Mullerian duct syndrome, type I, 261550 (3)
APCDD1	Hypotrichosis 1, 605389 (3)
AQP3	[Blood group GIL], 607457 (3)
ASPM	Microcephaly 5, primary, autosomal recessive, 608716 (3)
C3	{Hemolytic uremic syndrome, atypical, susceptibility to, 5}, 612925 (3) C3 deficiency, 613779 (3) {Macular degeneration, age-related, 9}, 611378 (3)
C4A	C4a deficiency, 614380 (3) [Blood group, Rodgers], 614374 (3)
C4B	C4B deficiency, 614379 (3)
C9	C9 deficiency, 613825 (3) {Macular degeneration, age-related, 15, susceptibility to}, 615591 (3)
CACNA1E	Epileptic encephalopathy, early infantile, 69, 618285 (3)
CCT5	Neuropathy, hereditary sensory, with spastic paraplegia, 256840 (3)
CLCN7	Osteopetrosis, autosomal dominant 2, 166600 (3) Osteopetrosis, autosomal recessive 4, 611490 (3)
COG7	Congenital disorder of glycosylation, type IIe, 608779 (3)
DDX41	{Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to}, 616871 (3)
DDX58	Singleton-Merten syndrome 2, 616298 (3)
DNAH11	Ciliary dyskinesia, primary, 7, with or without situs inversus, 611884 (3)
DNAH5	Ciliary dyskinesia, primary, 3, with or without situs inversus, 608644 (3)
DOCK8	Hyper-IgE recurrent infection syndrome, autosomal recessive, 243700 (3)
ELMO2	Vascular malformation, primary intraosseous, 606893 (3)
FREM1	Bifid nose with or without anorectal and renal anomalies, 608980 (3) Manitoba oculotrichoanal syndrome, 248450 (3) Trigonocephaly 2, 614485 (3)
FUT6	Fucosyltransferase 6 deficiency, 613852 (3)
GLDC	Glycine encephalopathy, 605899 (3)
GLIS3	Diabetes mellitus, neonatal, with congenital hypothyroidism, 610199 (3)
GPX4	Spondylometaphyseal dysplasia, Sedaghatian type, 250220 (3)
GRHPR	Hyperoxaluria, primary, type II, 260000 (3)
HTT	Huntington disease, 143100 (3) Lopes-Maciel-Rodan syndrome, 617435 (3)
IBA57	Multiple mitochondrial dysfunctions syndrome 3, 615330 (3) ?Spastic paraplegia 74, autosomal recessive, 616451 (3)
IL7R	Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type, 608971 (3)
JAK2	Leukemia, acute myeloid, somatic, 601626 (3) Erythrocytosis, somatic, 133100 (3) Myelofibrosis, somatic, 254450 (3) Polycythemia vera, somatic, 263300 (3) Thrombocythemia 3, 614521 (3) {Budd-Chiari syndrome, somatic}, 600880 (3)
KANK1	Cerebral palsy, spastic quadriplegic, 2, 612900 (3)
KCNC3	Spinocerebellar ataxia 13, 605259 (3)
KCNV2	Retinal cone dystrophy 3B, 610356 (3)
KISS1R	Hypogonadotropic hypogonadism 8 with or without anosmia, 614837 (3) ?Precocious puberty, central, 1, 176400 (3)
KMT2A	Leukemia, myeloid/lymphoid or mixed-lineage (2) Wiedemann-Steiner syndrome, 605130 (3)
LAMA1	Poretti-Boltshauser syndrome, 615960 (3)
LIFR	Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, 601559 (3)
LMNB2	{Lipodystrophy, partial, acquired, susceptibility to}, 608709 (3) ?Epilepsy, progressive myoclonic, 9, 616540 (3)
MAP2K2	Cardiofaciocutaneous syndrome 4, 615280 (3)
MTAP	Diaphyseal medullary stenosis with malignant fibrous histiocytoma, 112250 (3)
MTRR	Homocystinuria-megaloblastic anemia, cbl E type, 236270 (3) {Neural tube defects, folate-sensitive, susceptibility to}, 601634 (3)
NDUFS7	Mitochondrial complex I deficiency, nuclear type 3, 618224 (3)
NSUN2	Mental retardation, autosomal recessive 5, 611091 (3)
NUP155	?Atrial fibrillation 15, 615770 (3)
OSMR	Amyloidosis, primary localized cutaneous, 1, 105250 (3)
PIEZO2	Arthrogryposis, distal, type 3, 114300 (3) Arthrogryposis, distal, type 5, 108145 (3) Arthrogryposis, distal, with impaired proprioception and touch, 617146 (3) ?Marden-Walker syndrome, 248700 (3)
PIP5K1C	Lethal congenital contractural syndrome 3, 611369 (3)
PKD1L1	Heterotaxy, visceral, 8, autosomal, 617205 (3)
PPP2R5D	Mental retardation, autosomal dominant 35, 616355 (3)
PRX	Charcot-Marie-Tooth disease, type 4F, 614895 (3) Dejerine-Sottas disease, 145900 (3)
SCN2A	Epileptic encephalopathy, early infantile, 11, 613721 (3) Seizures, benign familial infantile, 3, 607745 (3)
SCN5A	Atrial fibrillation, familial, 10, 614022 (3) Brugada syndrome 1, 601144 (3) Cardiomyopathy, dilated, 1E, 601154 (3) Heart block, nonprogressive, 113900 (3) Heart block, progressive, type IA, 113900 (3) Long QT syndrome-3, 603830 (3) {Sudden infant death syndrome, susceptibility to}, 272120 (3) Sick sinus syndrome 1, 608567 (3) Ventricular fibrillation, familial, 1, 603829 (3)
SH3GL1	Leukemia, acute myeloid, 601626 (1)
SHPK	[Sedoheptulokinase deficiency], 617213 (3)
SIK3	?Spondyloepimetaphyseal dysplasia, Krakow type, 618162 (3)
SLC6A19	Hartnup disorder, 234500 (3) Hyperglycinuria, 138500 (3) Iminoglycinuria, digenic, 242600 (3)
SMARCA2	Nicolaides-Baraitser syndrome, 601358 (3)
TBXA2R	{Bleeding disorder, platelet-type, 13, susceptibility to}, 614009 (3)
TEK	Glaucoma 3, primary congenital, E, 617272 (3) Venous malformations, multiple cutaneous and mucosal, 600195 (3)
TICAM1	{Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 6}, 614850 (3)
TNXB	Ehlers-Danlos syndrome, classic-like, 1 606408 (3) Vesicoureteral reflux 8, 615963 (3)
TOPORS	Retinitis pigmentosa 31, 609923 (3)
TRIO	Mental retardation, autosomal dominant 44, 617061 (3)
TRPM7	{Amyotrophic lateral sclerosis-parkinsonism/dementia complex, susceptibility to}, 105500 (3)
UQCC2	Mitochondrial complex III deficiency, nuclear type 7, 615824 (3)

Genes at Clinical Genomics Database

AMACR, AMH, APCDD1, AQP3, ASPM, C3, C4A, C4B, C9, CCT5, CLCN7, COG7, DDX41, DDX58, DNAH11, DNAH5, DOCK8, FREM1, FUT6, GLDC, GLIS3, GPX4, GRHPR, HTT, IBA57, IL7R, JAK2, KANK1, KCNC3, KCNV2, KISS1R, KMT2A, LAMA1, LIFR, LMNB2, MAP2K2, MTAP, MTRR, NDUFS7, NUP155, OSMR, PIEZO2, PIP5K1C, PPP2R5D, PRX, SCN2A, SCN5A, SLC6A19, SMARCA2, TBXA2R, TEK, TICAM1, TNXB, TOPORS, UQCC2,

AMACR	Bile acid synthesis defect, congenital, 4 Alpha-methylacyl-CoA racemase deficiency
AMH	Persistent Mullerian duct syndrome, type I
APCDD1	Hypotrichosis 1
AQP3	Blood group, GIL
ASPM	Microcephaly, primary autosomal recessive, 5
C3	Complement component 3 deficiency, autosomal recessive Hemolytic uremic syndrome, atypical, susceptibility to, 5
C4A	Blood group, Chido/Rodgers system
C4B	Complement component 4B deficiency
C9	Complement component 9 deficiency
CCT5	Neuropathy, hereditary sensory, with spastic paraplegia
CLCN7	Osteopetrosis, autosomal dominant 2 Osteopetrosis, autosomal recessive 4
COG7	Congenital disorder of glycosylation, type IIe
DDX41	Familial myeloproliferative/lymphoproliferative neoplasms, multiple types, susceptibility to
DDX58	Singleton-Merten syndrome 2
DNAH11	Ciliary dyskinesia, primary, 7
DNAH5	Ciliary dyskinesia, primary, 3, with or without situs inversus
DOCK8	Hyper-IgE recurrent infection syndrome, autosomal recessive
FREM1	Bifid nose with or without anorectal and renal anomalies Trigonocephaly 2 Manitoba oculotrichoanal syndrome Congenital diaphragmatic hernia, autosomal recessive
FUT6	Fucosyltransferase 6 deficiency
GLDC	Glycine encephalopathy
GLIS3	Diabetes mellitus, neonatal, with congenital hypothyroidism
GPX4	Sedaghatian-type spondylometaphyseal dysplasia
GRHPR	Hyperoxaluria, primary, type II
HTT	Huntington disease
IBA57	Multiple mitochondrial dysfunctions syndrome 3 Spastic paraplegia 74, autosomal recessive
IL7R	Severe combined immunodeficiency, autosomal recessive, T-cell negative, B-cell positive, NK cell positive
JAK2	Thrombocythemia 3
KANK1	Cerebral palsy, spastic quadriplegic, 2
KCNC3	Spinocerebellar ataxia 13
KCNV2	Retinal cone dystrophy 3B
KISS1R	Hypogonadotropic hypogonadism 8 with or without anosmia
KMT2A	Wiedemann-Steiner syndrome
LAMA1	Poretti-Boltshauser syndrome
LIFR	Stuve-Wiedemann syndrome
LMNB2	Liopdystrophy, partial, acquired Epilepsy, progressive myoclonic, 9
MAP2K2	Cardiofaciocutaneous syndrome
MTAP	Diaphyseal medullary stenosis with malignant fibrous histiocytoma
MTRR	Homocystinuria-megaloblastic anemia, cobalamin E type
NDUFS7	Mitochondrial complex I deficiency Leigh syndrome
NUP155	Atrial fibrillation 15
OSMR	Amyloidosis, primary localized cutaneous, 1
PIEZO2	Distal arthrogryposis type 3 Distal arthrogryposis type 5 Marden-Walker syndrome
PIP5K1C	Lethal congenital contractural syndrome 3
PPP2R5D	Mental retardation, autosomal dominant 35
PRX	Dejerine-Sottas disease Charcot-Marie-Tooth disease, type 4F
SCN2A	Epileptic encephalopathy, early infantile, 11 Seizures, benign familial infantile, 3
SCN5A	Atrial fibrillation, familial 10 Long QT syndrome 3 Idiopathic ventricular fibrillation Heart block, progressive, type IA Heart block, nonprogressive Sick sinus syndrome 1, autosomal recessive Cardiomyopathy, dilated, 1E Brugada syndrome 1 Ventricular fibrillation, familial 1
SLC6A19	Hartnup disease
SMARCA2	Nicolaides-Baraitser syndrome
TBXA2R	Bleeding disorder, platelet-type 13, susceptibility to
TEK	Venous malformations, multiple cutaneous and mucosal
TICAM1	Herpes simplex encephalitis, susceptibility to, 4
TNXB	Vesicoureteral reflux 8 Ehlers-Danlos syndrome, autosomal recessive, due to tenascin X deficiency
TOPORS	Retitinis pigmentosa 31
UQCC2	Mitochondrial complex III deficiency, nuclear type 7

Genes at HGMD

Summary

Number of Variants: 5812
Number of Genes: 157

Export to: CSV

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ABCA7
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	552117_ngs_ex	19	rs753585845 dbSNP Clinvar	1043104	0.0	G	A	sbF	0/1	111	NON_SYNONYMOUS_CODING	MODERATE	None				0.09	0.12		None None	None None None None	ABCA7\|0.007770288\|82.8%
	View	552117_ngs_ex	19	.	1065019	0.0	G	T	sbF	0/1	58	NON_SYNONYMOUS_CODING	MODERATE	None				0.10	0.27		None None	None None None None	ABCA7\|0.007770288\|82.8%
	View	552117_ngs_ex	19	.	1064194	0.0	G	A	sbF	0/1	81	NON_SYNONYMOUS_CODING	MODERATE	None				0.00	0.35		None None	None None None None	ABCA7\|0.007770288\|82.8%
	View	552117_ngs_ex	19	.	1058212	0.0	C	T	PASS	0/1	87	NON_SYNONYMOUS_CODING	MODERATE	None				0.02	0.97		None None	None None None None	ABCA7\|0.007770288\|82.8%
	View	552117_ngs_ex	19	.	1056493	0.0	G	C	PASS	0/1	102	SYNONYMOUS_CODING	LOW	None							None None	None None None None	ABCA7\|0.007770288\|82.8%
	View	552117_ngs_ex	19	.	1051215	0.0	A	G	PASS	0/1	60	SYNONYMOUS_CODING	LOW	None							None None	None None None None	ABCA7\|0.007770288\|82.8%
	View	552117_ngs_ex	19	.	1047162	0.0	A	G	sbF	0/1	114	SYNONYMOUS_CODING	LOW	None							None None	None None None None	ABCA7\|0.007770288\|82.8%
	View	552117_ngs_ex	19	.	1047003	0.0	A	G	PASS	0/1	93	NON_SYNONYMOUS_CODING	MODERATE	None				0.00	1.00		None None	None None None None	ABCA7\|0.007770288\|82.8%
	View	552117_ngs_ex	19	rs896219105 dbSNP Clinvar	1065045	0.0	C	T	PASS	0/1	65	NON_SYNONYMOUS_CODING	MODERATE	None				0.04	0.51		None None	None None None None	ABCA7\|0.007770288\|82.8%
	View	552117_ngs_ex	19	.	1042810	0.0	A	G	sbF	0/1	54	SYNONYMOUS_CODING	LOW	None							None None	None None None None	ABCA7\|0.007770288\|82.8%
ABCB5
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	552117_ngs_ex	7	.	20784995	0.0	C	T	PASS	0/1	30	SYNONYMOUS_CODING	LOW	None							None None	None None None None	ABCB5\|0.12579132\|46.5%
AC135178.1
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	552117_ngs_ex	17	.	8262979	0.0	G	A	PASS	0/1	38	NON_SYNONYMOUS_CODING	MODERATE	None					0.00		None None	None None None None	None
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	552117_ngs_ex	5	.	5239808	0.0	C	T	PASS	0/1	66	NON_SYNONYMOUS_CODING	MODERATE	None				0.00	0.79		None None	None None None None	ADAMTS16\|0.017832591\|75.4%
	View	552117_ngs_ex	5	.	5239889	0.0	C	A	PASS	0/1	62	NON_SYNONYMOUS_CODING	MODERATE	None				0.41	0.06		None None	None None None None	ADAMTS16\|0.017832591\|75.4%
ADCYAP1
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	552117_ngs_ex	18	.	907674	0.0	G	A	PASS	0/1	94	NON_SYNONYMOUS_CODING	MODERATE	None				0.01	0.10		None None	None None None None	None
ALDH16A1
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	552117_ngs_ex	19	.	49973614	0.0	C	G	PASS	0/1	83	SYNONYMOUS_CODING	LOW	None							None None	None None None None	ALDH16A1\|0.021103617\|73.62%
AMACR
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	552117_ngs_ex	5	.	33998778	0.0	A	G	sbF	0/1	81	NON_SYNONYMOUS_CODING	MODERATE	None				0.00	0.92		None None	None None None None	AMACR\|0.038358163\|66.34%
	View	552117_ngs_ex	5	.	33989413	0.0	C	T	PASS	0/1	123	SYNONYMOUS_CODING	LOW	None							None None	None None None None	AMACR\|0.038358163\|66.34%
AMH