Related gene-specific medical variations for Gene (Select 92949) - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3268311	NM_001040272.6(ADAMTSL1):c.2365C>G (p.Pro789Ala)	ADAMTSL1, LOC126860588 (P789A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268183	NM_001040272.6(ADAMTSL1):c.2386G>C (p.Asp796His)	ADAMTSL1, LOC126860588 (D796H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268132	NM_001040272.6(ADAMTSL1):c.2236G>A (p.Gly746Arg)	ADAMTSL1, LOC126860588 (G746R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078878	NM_001040272.6(ADAMTSL1):c.2375G>T (p.Trp792Leu)	ADAMTSL1, LOC126860588 (W792L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078872	NM_001040272.6(ADAMTSL1):c.2272C>T (p.Arg758Cys)	ADAMTSL1, LOC126860588 (R758C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349016	NM_001040272.6(ADAMTSL1):c.2252G>A (p.Arg751His)	ADAMTSL1, LOC126860588 (R751H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336983	NM_001040272.6(ADAMTSL1):c.2395G>A (p.Glu799Lys)	ADAMTSL1, LOC126860588 (E799K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809159	GRCh37/hg19 9p22.1(chr9:18810082-18909391)x1	ADAMTSL1	Copy number loss	not provided	GUncertain significance
Select item 995698	NM_001040272.6(ADAMTSL1):c.4046G>C (p.Gly1349Ala)	ADAMTSL1 (G1349A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 686863	GRCh37/hg19 9p22.2-22.1(chr9:17901410-18762717)x1	ADAMTSL1	Copy number loss	not provided	GUncertain significance