NCAM1-AS1[gene] - ClinVar

	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 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

ClinVar