"Revvity Omics, Revvity"[submitter] AND "LOC126862115"[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1452077	NM_000070.3(CAPN3):c.382del	CAPN3, LOC126862115	Deletion (genic upstream transcript variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 498206	NM_000070.3(CAPN3):c.395T>C (p.Leu132Pro)	CAPN3, LOC126862115 (L132P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2439729	NM_000070.3(CAPN3):c.406G>C (p.Ala136Pro)	LOC126862115, CAPN3 (A136P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 990237	NM_000070.3(CAPN3):c.425A>G (p.Gln142Arg)	CAPN3, LOC126862115 (Q142R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2439720	NM_000070.3(CAPN3):c.440G>T (p.Arg147Leu)	LOC126862115, CAPN3 (R147L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1431307	NM_000070.3(CAPN3):c.452A>C (p.His151Pro)	CAPN3, LOC126862115 (H151P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 851275	NM_000070.3(CAPN3):c.461G>C (p.Ser154Thr)	CAPN3, LOC126862115 (S154T)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 518130	NM_000070.3(CAPN3):c.468C>T (p.Ile156=)	CAPN3, LOC126862115	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 285140	NM_000070.3(CAPN3):c.476A>G (p.Tyr159Cys)	CAPN3, LOC126862115 (Y159C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1038748	NM_000070.3(CAPN3):c.477C>T (p.Tyr159=)	CAPN3, LOC126862115	Single nucleotide variant (synonymous variant)	not provided +1 more	GUncertain significance
Select item 990238	NM_000070.3(CAPN3):c.478G>A (p.Ala160Thr)	LOC126862115, CAPN3 (A160T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance