15971[HGNC] - ClinVar

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Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144515	GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3	TRIM22, TRIM3 +917 more	Copy number gain	See cases	GPathogenic
Select item 58856	GRCh38/hg38 11p15.1(chr11:17905089-19674505)x1	CSRP3, CSRP3-AS1 +86 more	Copy number loss	See cases	GPathogenic
Select item 2410523	NM_006292.4(TSG101):c.1169A>G (p.Tyr390Cys)	TSG101 (Y390C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334120	NM_006292.4(TSG101):c.1009G>A (p.Ala337Thr)	TSG101 (A337T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 774621	NM_006292.4(TSG101):c.954C>T (p.Ile318=)	TSG101	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2589298	NM_006292.4(TSG101):c.943G>A (p.Asp315Asn)	TSG101 (D315N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183613	NM_006292.4(TSG101):c.827G>A (p.Arg276His)	TSG101 (R276H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329563	NM_006292.4(TSG101):c.799C>A (p.His267Asn)	TSG101 (H267N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204060	NM_006292.4(TSG101):c.742C>T (p.Arg248Cys)	TSG101 (R248C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329564	NM_006292.4(TSG101):c.727A>G (p.Lys243Glu)	TSG101 (K243E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459229	NM_006292.4(TSG101):c.667G>A (p.Glu223Lys)	TSG101 (E223K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183612	NM_006292.4(TSG101):c.647G>A (p.Ser216Asn)	TSG101 (S216N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183611	NM_006292.4(TSG101):c.637G>A (p.Val213Ile)	TSG101 (V213I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183610	NM_006292.4(TSG101):c.608A>C (p.Gln203Pro)	TSG101 (Q203P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259553	NM_006292.4(TSG101):c.527C>A (p.Ser176Tyr)	TSG101 (S176Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286656	NM_006292.4(TSG101):c.248A>C (p.Asn83Thr)	TSG101 (N83T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395492	NM_006292.4(TSG101):c.80A>G (p.Asn27Ser)	TSG101 (N27S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532408	NM_006292.4(TSG101):c.61A>G (p.Thr21Ala)	TSG101 (T21A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 145597	GRCh38/hg38 11p15.1(chr11:18526222-20748125)x3	CSRP3, CSRP3-AS1 +83 more	Copy number gain	See cases	GUncertain significance
Select item 3183609	NM_006292.4(TSG101):c.22C>T (p.Leu8Phe)	TSG101 (L8F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3244681	NC_000011.9:g.(?_18418390)_(19213995_?)del	CSRP3, IGSF22 +11 more	Deletion	Hypertrophic cardiomyopathy 12 +1 more	GPathogenic
Select item 2424682	NC_000011.9:g.(?_18418390)_(19204313_?)del	CSRP3, IGSF22 +11 more	Deletion	Dilated cardiomyopathy 1M +1 more	GUncertain significance
Select item 1808754	GRCh37/hg19 11p15.1(chr11:17784556-18797650)x3	GTF2H1, HPS5 +19 more	Copy number gain	not provided	GUncertain significance
Select item 1707435	GRCh37/hg19 11p15.5-14.2(chr11:230615-26881146)x3	CYP2R1, DBX1 +308 more	Copy number gain	See cases	GPathogenic
Select item 1527629	GRCh37/hg19 11p15.1(chr11:18482438-18792764)	IGSF22, LDHAL6A +5 more	Copy number loss	not specified	GUncertain significance
Select item 999235	NC_000011.9:g.(?_17552691)_(19213995_?)dup	CSRP3, GTF2H1 +26 more	Duplication	Progressive myoclonic epilepsy type 7	GUncertain significance
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 980402	GRCh37/hg19 11p15.1(chr11:18441339-18526284)x1	LDHAL6A, TSG101 +1 more	Copy number loss	not provided	GUncertain significance
Select item 815411	GRCh37/hg19 11p15.2-14.1(chr11:13970757-27565888)x3	LDHA, SLC5A12 +67 more	Copy number gain	not provided	GPathogenic
Select item 815410	GRCh37/hg19 11p15.3-13(chr11:11053978-34732891)x3	DKK3, DNAJC24 +116 more	Copy number gain	not provided	GPathogenic
Select item 815395	GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3	CALCB, CARS1 +343 more	Copy number gain	not provided	GPathogenic
Select item 563866	GRCh37/hg19 11p15.1(chr11:17527585-18606820)x1	GTF2H1, HPS5 +18 more	Copy number loss	not provided	GUncertain significance
Select item 441985	GRCh37/hg19 11p15.5-13(chr11:230615-31995219)x3	DEAF1, DENND2B +327 more	Copy number gain	See cases	GPathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441787	GRCh37/hg19 11p15.5-14.3(chr11:230615-25584362)x3	ASCL3, CEND1 +305 more	Copy number gain	See cases	GPathogenic
Select item 441715	GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3	ART5, CCDC34 +364 more	Copy number gain	See cases	GPathogenic
Select item 376757	GRCh37/hg19 11p15.1-13(chr11:18536224-31923308)x1	DCDC1, DNAJC24 +44 more	Copy number loss	Aniridia 1	GPathogenic
Select item 8182	TSG101, VAL-ALA, 1162T-C	TSG101	Single nucleotide variant	Familial cancer of breast	GUncertain significance

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Items: 39