NCAM1[gene] and "single gene"[properties] - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 815472	GRCh37/hg19 11q23.1-23.2(chr11:112466568-112887116)x1	NCAM1	Copy number loss	not provided	GUncertain significance