Related gene-specific medical variations for Gene (Select 4684) - ClinVar - NCBI

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Links from Gene

Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 2642376	NM_181351.5(NCAM1):c.2430C>T (p.Asn810=)	NCAM1, NCAM1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 981862	NM_181351.5(NCAM1):c.25T>A (p.Trp9Arg)	LOC101928847, NCAM1 (W9R)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 815472	GRCh37/hg19 11q23.1-23.2(chr11:112466568-112887116)x1	NCAM1	Copy number loss	not provided	GUncertain significance