"PreventionGenetics, part of Exact Sciences"[submitter] AND "STXBP5L"[ - ClinVar - NCBI

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

Search results

Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2633657	NM_001308330.2(STXBP5L):c.62G>A (p.Gly21Asp)	STXBP5L (G21D)	Single nucleotide variant (missense variant +1 more)	STXBP5L-related disorder	GUncertain significance
Select item 2654062	NM_001308330.2(STXBP5L):c.1563C>T (p.Tyr521=)	STXBP5L	Single nucleotide variant (synonymous variant +1 more)	STXBP5L-related disorder +1 more	GLikely benign
Select item 3038208	NM_001308330.2(STXBP5L):c.1959-10dup	STXBP5L	Duplication (intron variant)	STXBP5L-related disorder	GLikely benign
Select item 3056299	NM_001308330.2(STXBP5L):c.2491G>A (p.Val831Ile)	STXBP5L (V831I +1 more)	Single nucleotide variant (missense variant +1 more)	STXBP5L-related disorder	GBenign
Select item 3049133	NM_001308330.2(STXBP5L):c.2613T>C (p.Ala871=)	STXBP5L	Single nucleotide variant (synonymous variant +1 more)	STXBP5L-related disorder	GLikely benign
Select item 3029147	NM_001308330.2(STXBP5L):c.2834T>C (p.Leu945Pro)	STXBP5L (L945P +1 more)	Single nucleotide variant (missense variant +1 more)	STXBP5L-related disorder	GUncertain significance
Select item 3051762	NM_001308330.2(STXBP5L):c.2902G>A (p.Ala968Thr)	STXBP5L (A968T +1 more)	Single nucleotide variant (missense variant +1 more)	STXBP5L-related disorder	GLikely benign
Select item 3051920	NM_001308330.2(STXBP5L):c.2986T>C (p.Leu996=)	STXBP5L	Single nucleotide variant (synonymous variant +1 more)	STXBP5L-related disorder	GLikely benign
Select item 3034247	NM_001308330.2(STXBP5L):c.3120G>A (p.Met1040Ile)	STXBP5L (M1040I +1 more)	Single nucleotide variant (missense variant +1 more)	STXBP5L-related disorder	GLikely benign
Select item 3058314	NM_001308330.2(STXBP5L):c.3240G>A (p.Ser1080=)	STXBP5L	Single nucleotide variant (synonymous variant +1 more)	STXBP5L-related disorder	GLikely benign
Select item 3048778	NM_001308330.2(STXBP5L):c.3283C>T (p.Pro1095Ser)	STXBP5L (P1095S +1 more)	Single nucleotide variant (missense variant +1 more)	STXBP5L-related disorder	GLikely benign