ClinVar for MedGen (Select 895198) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1687350	NM_015073.3(SIPA1L3):c.3492dup (p.Gly1165fs)	SIPA1L3 (G1165fs)	Duplication (frameshift variant)	Cataract 45	GPathogenic
Select item 1360785	NM_015073.3(SIPA1L3):c.4808C>G (p.Pro1603Arg)	SIPA1L3 (P1603R)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1273720	NM_015073.3(SIPA1L3):c.5203-29G>A	SIPA1L3	Single nucleotide variant (intron variant)	Cataract 45 +1 more	GBenign
Select item 1251838	NM_015073.3(SIPA1L3):c.5203-23T>C	SIPA1L3	Single nucleotide variant (intron variant)	Cataract 45 +1 more	GBenign
Select item 1032651	NM_015073.3(SIPA1L3):c.947G>A (p.Arg316His)	SIPA1L3 (R316H)	Single nucleotide variant (missense variant)	Cataract 45	GUncertain significance
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 223242	NM_015073.3(SIPA1L3):c.4489C>T (p.Arg1497Ter)	SIPA1L3 (R1497*)	Single nucleotide variant (nonsense)	Cataract 45	GPathogenic

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