"PreventionGenetics, part of Exact Sciences"[submitter] AND "CAPN5"[ge - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1168849	NM_004055.5(CAPN5):c.21C>G (p.Pro7=)	CAPN5	Single nucleotide variant (synonymous variant)	CAPN5-related disorder +1 more	GBenign/Likely benign
Select item 259224	NM_004055.5(CAPN5):c.30C>G (p.Asp10Glu)	CAPN5 (D10E)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1414741	NM_004055.5(CAPN5):c.90C>T (p.Pro30=)	CAPN5	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1079088	NM_004055.5(CAPN5):c.108C>T (p.Asp36=)	CAPN5	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1169357	NM_004055.5(CAPN5):c.145G>A (p.Val49Ile)	CAPN5 (V49I)	Single nucleotide variant (missense variant)	CAPN5-related disorder +1 more	GBenign
Select item 1164846	NM_004055.5(CAPN5):c.166-4G>A	CAPN5	Single nucleotide variant (intron variant)	CAPN5-related disorder +1 more	GBenign
Select item 1169504	NM_004055.5(CAPN5):c.213C>T (p.His71=)	CAPN5	Single nucleotide variant (synonymous variant)	CAPN5-related disorder +1 more	GBenign/Likely benign
Select item 1142630	NM_004055.5(CAPN5):c.214G>A (p.Asp72Asn)	CAPN5 (D72N)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 1064105	NM_004055.5(CAPN5):c.247T>C (p.Phe83Leu)	CAPN5 (F83L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1080546	NM_004055.5(CAPN5):c.285G>A (p.Ser95=)	CAPN5	Single nucleotide variant (synonymous variant)	CAPN5-related disorder +1 more	GLikely benign
Select item 1165360	NM_004055.5(CAPN5):c.336A>G (p.Glu112=)	CAPN5	Single nucleotide variant (synonymous variant)	CAPN5-related disorder +1 more	GBenign
Select item 3030267	NM_004055.5(CAPN5):c.649C>A (p.Arg217Ser)	CAPN5 (R173S +2 more)	Single nucleotide variant (missense variant)	CAPN5-related disorder	GUncertain significance
Select item 710966	NM_004055.5(CAPN5):c.804A>G (p.Leu268=)	CAPN5	Single nucleotide variant (synonymous variant)	CAPN5-related disorder +1 more	GBenign/Likely benign
Select item 1124693	NM_004055.5(CAPN5):c.960C>T (p.Asp320=)	CAPN5	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 259225	NM_004055.5(CAPN5):c.971+11A>G	CAPN5	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1663367	NM_004055.5(CAPN5):c.1292T>C (p.Val431Ala)	CAPN5 (V431A)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 789210	NM_004055.5(CAPN5):c.1495C>T (p.Arg499Cys)	CAPN5 (R499C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1907701	NM_004055.5(CAPN5):c.1740+7C>A	CAPN5	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 3044061	NM_004055.5(CAPN5):c.1743C>T (p.Val581=)	CAPN5	Single nucleotide variant (synonymous variant)	CAPN5-related disorder	GLikely benign
Select item 1561590	NM_004055.5(CAPN5):c.1818C>T (p.Ala606=)	CAPN5	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1164613	NM_004055.5(CAPN5):c.1844G>A (p.Arg615Gln)	CAPN5 (R615Q)	Single nucleotide variant (missense variant)	CAPN5-related disorder +1 more	GBenign

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Items: 21