Related gene-specific medical variations for Gene (Select 80146) - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3331819	NM_001253875.2(UXS1):c.22C>A (p.Arg8Ser)	LOC129934515, UXS1 (R8S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3188109	NM_001253875.2(UXS1):c.28G>C (p.Val10Leu)	LOC129934515, UXS1 (V10L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2619393	NM_001253875.2(UXS1):c.5T>C (p.Val2Ala)	LOC129934515, UXS1 (V2A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2236818	NM_001253875.2(UXS1):c.35C>T (p.Ala12Val)	LOC129934515, UXS1 (A12V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 443673	GRCh37/hg19 2q12.2(chr2:106794872-107014384)x1	UXS1	Copy number loss	See cases	GLikely benign

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