"Ambry Genetics"[submitter] AND "NCAM1"[gene] - ClinVar - NCBI

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Items: 11

	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)	Inborn genetic diseases	GUncertain significance
Select item 2221507	NM_181351.5(NCAM1):c.1056A>T (p.Glu352Asp)	NCAM1 (E327D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2514147	NM_181351.5(NCAM1):c.1090-429G>T	NCAM1 (W370C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2335733	NM_181351.5(NCAM1):c.1090-386C>T	NCAM1 (P385S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2259473	NM_181351.5(NCAM1):c.1246C>T (p.Pro416Ser)	NCAM1 (P442S +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2390078	NM_181351.5(NCAM1):c.1762G>A (p.Ala588Thr)	NCAM1 (A553T +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2371710	NM_181351.5(NCAM1):c.1798G>A (p.Ala600Thr)	NCAM1 (A302T +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2406087	NM_181351.5(NCAM1):c.2110G>A (p.Ala704Thr)	NCAM1 (A668T +15 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2391632	NM_181351.5(NCAM1):c.2269G>A (p.Val757Ile)	NCAM1-AS1, NCAM1 (V746I +10 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2386353	NM_181351.5(NCAM1):c.2380G>A (p.Glu794Lys)	NCAM1-AS1, NCAM1 (E495K +10 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance