Related gene-specific medical variations for Gene (Select 23094) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 931643	NM_015073.3(SIPA1L3):c.5248C>T (p.Arg1750Trp)	SIPA1L3 (R1750W)	Single nucleotide variant (missense variant)	Cataract 45	GUncertain significance
Select item 931642	NM_015073.3(SIPA1L3):c.3535T>G (p.Tyr1179Asp)	SIPA1L3 (Y1179D)	Single nucleotide variant (missense variant)	Cataract 45	GUncertain significance
Select item 91987	NM_015073.3(SIPA1L3):c.4035C>G (p.Gly1345=)	SIPA1L3	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance

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