"GeneDx"[submitter] AND "CAPN5"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58917	GRCh38/hg38 11q13.4-14.1(chr11:71969881-78232895)x1	AAMDC, ACER3 +355 more	Copy number loss	See cases	GPathogenic
Select item 1310561	NM_004055.5(CAPN5):c.165+5del	CAPN5	Deletion (intron variant)	not provided	GUncertain significance
Select item 1302396	NM_004055.5(CAPN5):c.245G>C (p.Trp82Ser)	CAPN5 (W82S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1309483	NM_004055.5(CAPN5):c.395T>C (p.Val132Ala)	CAPN5 (V132A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1313529	NM_004055.5(CAPN5):c.1002C>G (p.Phe334Leu)	CAPN5 (F334L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 954836	NM_004055.5(CAPN5):c.1591G>T (p.Asp531Tyr)	CAPN5 (D531Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1167065	NM_004055.5(CAPN5):c.1740+5G>C	CAPN5	Single nucleotide variant (intron variant)	not provided	GBenign

ClinVar