"PreventionGenetics, part of Exact Sciences"[submitter] AND "CAPN10"[g - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3044959	NM_023083.4(CAPN10):c.459G>A (p.Lys153=)	CAPN10	Single nucleotide variant (synonymous variant)	CAPN10-related disorder	GLikely benign
Select item 3056633	NM_023083.4(CAPN10):c.600A>G (p.Pro200=)	CAPN10	Single nucleotide variant (synonymous variant)	CAPN10-related disorder	GBenign
Select item 725107	NM_023083.4(CAPN10):c.966G>A (p.Thr322=)	CAPN10	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3043911	NM_023083.4(CAPN10):c.1170G>A (p.Ala390=)	CAPN10	Single nucleotide variant (synonymous variant)	CAPN10-related disorder	GLikely benign
Select item 2628669	NM_023083.4(CAPN10):c.1184G>A (p.Arg395Gln)	CAPN10 (R395Q)	Single nucleotide variant (missense variant)	CAPN10-related disorder	GUncertain significance
Select item 3037669	NM_023083.4(CAPN10):c.1341G>A (p.Ala447=)	CAPN10	Single nucleotide variant (synonymous variant +1 more)	CAPN10-related disorder	GLikely benign
Select item 3044646	NM_023083.4(CAPN10):c.1350A>T (p.Ala450=)	CAPN10	Single nucleotide variant (synonymous variant +1 more)	CAPN10-related disorder	GLikely benign
Select item 719951	NM_023083.4(CAPN10):c.1378G>A (p.Glu460Lys)	CAPN10 (E460K)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 736701	NM_023083.4(CAPN10):c.1431G>A (p.Ala477=)	CAPN10	Single nucleotide variant (synonymous variant +1 more)	CAPN10-related disorder +1 more	GBenign/Likely benign
Select item 1296539	NM_023083.4(CAPN10):c.1510A>G (p.Thr504Ala)	CAPN10 (T504A)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 3050082	NM_023083.4(CAPN10):c.1533G>A (p.Ala511=)	CAPN10	Single nucleotide variant (synonymous variant +1 more)	CAPN10-related disorder	GLikely benign
Select item 3033484	NM_023083.4(CAPN10):c.1647C>T (p.Pro549=)	CAPN10	Single nucleotide variant (synonymous variant +1 more)	CAPN10-related disorder	GLikely benign
Select item 729852	NM_023083.4(CAPN10):c.1663C>T (p.Arg555Cys)	CAPN10 (R555C)	Single nucleotide variant (missense variant +1 more)	CAPN10-related disorder +1 more	GLikely benign
Select item 733989	NM_023083.4(CAPN10):c.1745T>C (p.Val582Ala)	CAPN10 (V582A +1 more)	Single nucleotide variant (missense variant)	CAPN10-related disorder +1 more	GBenign/Likely benign
Select item 3056974	NM_023083.4(CAPN10):c.1990-7T>C	CAPN10	Single nucleotide variant (intron variant)	CAPN10-related disorder	GBenign