ClinVar for MedGen (Select 66167) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2439751	NM_004055.5(CAPN5):c.1589_1592delinsGGTGAG (p.Lys530_Asp531delinsArgTer)	CAPN5	Indel (nonsense)	Proliferative vitreoretinopathy	GUncertain significance
Select item 869153	NM_004055.5(CAPN5):c.750G>C (p.Lys250Asn)	CAPN5 (K250N)	Single nucleotide variant (missense variant)	Proliferative vitreoretinopathy	GPathogenic
Select item 522331	NM_004055.5(CAPN5):c.1894C>A (p.Leu632Ile)	CAPN5 (L632I)	Single nucleotide variant (missense variant)	Proliferative vitreoretinopathy +1 more	GBenign/Likely benign
Select item 279987	NM_004055.5(CAPN5):c.865C>T (p.Arg289Trp)	CAPN5 (R289W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GPathogenic
Select item 39807	NM_004055.5(CAPN5):c.731T>C (p.Leu244Pro)	CAPN5 (L244P)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 39806	NM_004055.5(CAPN5):c.728G>T (p.Arg243Leu)	CAPN5 (R243L)	Single nucleotide variant (missense variant)	not provided	GPathogenic

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