SCAMP5[gene] and "single gene"[properties] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2578303	NM_138967.4(SCAMP5):c.40T>G (p.Phe14Val)	SCAMP5 (F14V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 774944	NM_138967.4(SCAMP5):c.48G>T (p.Pro16=)	SCAMP5	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1704180	NM_138967.4(SCAMP5):c.89C>A (p.Pro30His)	SCAMP5 (P30H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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)	Inborn genetic diseases +4 more	GPathogenic/Likely pathogenic
Select item 3343462	NM_138967.4(SCAMP5):c.565G>A (p.Glu189Lys)	SCAMP5 (E189K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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