7656[HGNC] - ClinVar

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Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59772	GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3	AASDHPPT, ABCG4 +1199 more	Copy number gain	See cases	GPathogenic
Select item 148508	GRCh38/hg38 11q23.2-25(chr11:112864326-131189315)x3	BCL9L, BLID +774 more	Copy number gain	See cases	GPathogenic
Select item 981862	NM_181351.5(NCAM1):c.25T>A (p.Trp9Arg)	NCAM1, LOC101928847 (W9R)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 2547558	NM_181351.5(NCAM1):c.322G>A (p.Ala108Thr)	NCAM1 (A83T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 770406	NM_181351.5(NCAM1):c.693C>T (p.Val231=)	NCAM1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2221507	NM_181351.5(NCAM1):c.1056A>T (p.Glu352Asp)	NCAM1 (E327D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514147	NM_181351.5(NCAM1):c.1090-429G>T	NCAM1 (W370C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2642375	NM_181351.5(NCAM1):c.1090-409G>A	NCAM1 (G377E)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2335733	NM_181351.5(NCAM1):c.1090-386C>T	NCAM1 (P385S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2259473	NM_181351.5(NCAM1):c.1246C>T (p.Pro416Ser)	NCAM1 (P442S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298667	NM_181351.5(NCAM1):c.1405C>T (p.Pro469Ser)	NCAM1 (P459S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390078	NM_181351.5(NCAM1):c.1762G>A (p.Ala588Thr)	NCAM1 (A553T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371710	NM_181351.5(NCAM1):c.1798G>A (p.Ala600Thr)	NCAM1 (A302T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1098336	NM_181351.5(NCAM1):c.1923dup (p.Ile642fs)	NCAM1 (I631fs +5 more)	Duplication (frameshift variant)	See cases	GPathogenic
Select item 3180215	NM_181351.5(NCAM1):c.2002C>T (p.His668Tyr)	NCAM1 (H404Y +15 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180218	NM_181351.5(NCAM1):c.2086G>A (p.Ala696Thr)	NCAM1 (A432T +15 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406087	NM_181351.5(NCAM1):c.2110G>A (p.Ala704Thr)	NCAM1 (A668T +15 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180220	NM_181351.5(NCAM1):c.2165G>A (p.Gly722Glu)	NCAM1, NCAM1-AS1 (G423E +10 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2343877	NM_181351.5(NCAM1):c.2167G>C (p.Ala723Pro)	NCAM1, NCAM1-AS1 (A747P +10 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3180229	NM_181351.5(NCAM1):c.2218G>T (p.Asp740Tyr)	NCAM1, NCAM1-AS1 (D729Y +10 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2391632	NM_181351.5(NCAM1):c.2269G>A (p.Val757Ile)	NCAM1, NCAM1-AS1 (V746I +10 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2386353	NM_181351.5(NCAM1):c.2380G>A (p.Glu794Lys)	NCAM1, NCAM1-AS1 (E495K +10 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2642376	NM_181351.5(NCAM1):c.2430C>T (p.Asn810=)	NCAM1, NCAM1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2671625	Single allele	AASDHPPT, ABCG4 +275 more	Duplication	not provided	GPathogenic
Select item 1808702	GRCh37/hg19 11q22.3-23.3(chr11:109328787-116414966)x1	ALG9, ANKK1 +50 more	Copy number loss	not provided	GPathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1341168	GRCh37/hg19 11q23.1-24.3(chr11:112375478-128785742)x3	ABCG4, ACRV1 +172 more	Copy number gain	not provided	GPathogenic
Select item 1340004	GRCh37/hg19 11q14.1-23.3(chr11:85422071-118022671)x1	AASDHPPT, ACAT1 +182 more	Copy number loss	not provided	GUncertain significance
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 973579	NC_000011.9:g.104288964_134937416dup	VSIG2, VWA5A +259 more	Duplication	Distal trisomy 11q	GPathogenic
Select item 815472	GRCh37/hg19 11q23.1-23.2(chr11:112466568-112887116)x1	NCAM1	Copy number loss	not provided	GUncertain significance
Select item 815468	GRCh37/hg19 11q22.3-23.3(chr11:105699599-114524876)x1	AASDHPPT, ACAT1 +68 more	Copy number loss	not provided	GPathogenic
Select item 815462	GRCh37/hg19 11q22.3-23.2(chr11:103320065-114349787)x1	AASDHPPT, ACAT1 +76 more	Copy number loss	not provided	GPathogenic
Select item 688245	GRCh37/hg19 11q23.1-23.3(chr11:110969076-114578509)x1	ALG9, ANKK1 +45 more	Copy number loss	not provided	GUncertain significance
Select item 688050	GRCh37/hg19 11q22.3-23.3(chr11:104101411-116680918)x1	AASDHPPT, ACAT1 +80 more	Copy number loss	not provided	GPathogenic
Select item 563885	GRCh37/hg19 11q13.4-23.3(chr11:71588805-116680918)x3	AAMDC, AASDHPPT +261 more	Copy number gain	not provided	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

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Items: 38