"Eurofins Ntd Llc (ga)"[submitter] AND "LOC126862115"[gene] - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 285927	NM_000070.3(CAPN3):c.380-18_380-3del	CAPN3, LOC126862115	Deletion (intron variant)	not provided	GUncertain significance
Select item 497861	NM_000070.3(CAPN3):c.387C>G (p.Cys129Trp)	CAPN3, LOC126862115 (C129W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 290335	NM_000070.3(CAPN3):c.398C>T (p.Ala133Val)	CAPN3, LOC126862115 (A133V)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 286591	NM_000070.3(CAPN3):c.402del (p.Ile135fs)	CAPN3, LOC126862115 (I135fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 290264	NM_000070.3(CAPN3):c.433C>G (p.Leu145Val)	LOC126862115, CAPN3 (L145V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 242415	NM_000070.3(CAPN3):c.439C>T (p.Arg147Ter)	CAPN3, LOC126862115 (R147*)	Single nucleotide variant (nonsense)	Autosomal recessive limb-girdle muscular dystrophy type 2A +2 more	GPathogenic
Select item 283637	NM_000070.3(CAPN3):c.442G>C (p.Val148Leu)	CAPN3, LOC126862115 (V148L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 596420	NM_000070.3(CAPN3):c.466A>G (p.Ile156Val)	CAPN3, LOC126862115 (I156V)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A +1 more	GUncertain significance
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 291227	NM_000070.3(CAPN3):c.478G>C (p.Ala160Pro)	CAPN3, LOC126862115 (A160P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 92417	NM_000070.3(CAPN3):c.479C>G (p.Ala160Gly)	CAPN3, LOC126862115 (A160G)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A +2 more	GBenign/Likely benign
Select item 595398	NM_000070.3(CAPN3):c.492C>T (p.His164=)	CAPN3, LOC126862115	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 166785	NM_000070.3(CAPN3):c.495C>T (p.Phe165=)	CAPN3, LOC126862115	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign