"Ambry Genetics"[submitter] AND "SCAMP5"[gene] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2317020	NM_138967.4(SCAMP5):c.220G>A (p.Ala74Thr)	SCAMP5 (A74T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 983558	NM_138967.4(SCAMP5):c.271C>T (p.Arg91Trp)	SCAMP5 (R91W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2289326	NM_138967.4(SCAMP5):c.283A>G (p.Lys95Glu)	SCAMP5 (K95E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3158222	NM_138967.4(SCAMP5):c.370G>A (p.Val124Met)	SCAMP5 (V124M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2406008	NM_138967.4(SCAMP5):c.487G>A (p.Val163Ile)	SCAMP5 (V163I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 872248	NM_138967.4(SCAMP5):c.538G>T (p.Gly180Trp)	SCAMP5 (G180W)	Single nucleotide variant (missense variant +1 more)	SCAMP5-related neurodevelopmental disorder with autistic features and seizures +4 more	GPathogenic/Likely pathogenic
Select item 2612132	NM_138967.4(SCAMP5):c.592C>G (p.Pro198Ala)	SCAMP5 (P198A)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2357406	NM_138967.4(SCAMP5):c.673G>A (p.Ala225Thr)	SCAMP5 (A225T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3158223	NM_138967.4(SCAMP5):c.698A>G (p.Asn233Ser)	SCAMP5 (N233S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign