"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "ADAMTSL1"[ - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2659093	NM_001040272.6(ADAMTSL1):c.383C>A (p.Thr128Lys)	ADAMTSL1 (T128K)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2659094	NM_001040272.6(ADAMTSL1):c.1137-4G>A	ADAMTSL1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2659095	NM_001040272.6(ADAMTSL1):c.1575-8G>A	ADAMTSL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2659096	NM_001040272.6(ADAMTSL1):c.2007-4_2007-3del	ADAMTSL1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2659097	NM_001040272.6(ADAMTSL1):c.2829C>T (p.Gly943=)	ADAMTSL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 772910	NM_001040272.6(ADAMTSL1):c.3374G>A (p.Arg1125His)	ADAMTSL1 (R1125H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 774884	NM_001040272.6(ADAMTSL1):c.3678-8C>T	ADAMTSL1	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 2659098	NM_001040272.6(ADAMTSL1):c.3788T>C (p.Ile1263Thr)	ADAMTSL1 (I1263T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2659099	NM_001040272.6(ADAMTSL1):c.3806-7T>C	ADAMTSL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2659100	NM_001040272.6(ADAMTSL1):c.3910G>A (p.Val1304Met)	ADAMTSL1 (V1304M)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3024710	NM_001040272.6(ADAMTSL1):c.3935-10_3935-9del	ADAMTSL1	Deletion (intron variant)	not provided	GLikely benign
Select item 2659101	NM_001040272.6(ADAMTSL1):c.4293T>C (p.Phe1431=)	ADAMTSL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2659102	NM_001040272.6(ADAMTSL1):c.4926C>T (p.Ile1642=)	ADAMTSL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3024721	NM_001040272.6(ADAMTSL1):c.4998C>T (p.Cys1666=)	ADAMTSL1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 773407	NM_001040272.6(ADAMTSL1):c.5019C>T (p.Ser1673=)	ADAMTSL1	Single nucleotide variant (synonymous variant)	not provided	GBenign