"Genome-Nilou Lab"[submitter] AND "CAPN3"[gene] - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 315890	NM_000070.3(CAPN3):c.-104G>C	CAPN3	Single nucleotide variant (5 prime UTR variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 574396	NM_000070.3(CAPN3):c.52C>T (p.Arg18Trp)	CAPN3 (R18W)	Single nucleotide variant (missense variant)	Muscular dystrophy, limb-girdle, autosomal dominant 4 +2 more	GUncertain significance
Select item 92422	NM_000070.3(CAPN3):c.96T>C (p.Thr32=)	CAPN3	Single nucleotide variant (synonymous variant)	Limb-girdle muscular dystrophy, recessive +4 more	GBenign/Likely benign
Select item 1195948	NM_000070.3(CAPN3):c.104G>C (p.Gly35Ala)	CAPN3 (G35A)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A +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 provided +2 more	GUncertain significance
Select item 254874	NM_000070.3(CAPN3):c.498+35G>T	CAPN3, LOC126862115	Single nucleotide variant (intron variant)	Muscular dystrophy, limb-girdle, autosomal dominant 4 +3 more	GBenign
Select item 1210370	NM_000070.3(CAPN3):c.512G>A (p.Gly171Glu)	CAPN3 (G171E)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A +1 more	GUncertain significance
Select item 512202	NM_000070.3(CAPN3):c.552G>A (p.Thr184=)	CAPN3	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1177541	NM_000070.3(CAPN3):c.633-69G>A	CAPN3	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 92420	NM_000070.3(CAPN3):c.706G>A (p.Ala236Thr)	CAPN3 (A236T)	Single nucleotide variant (missense variant)	Limb-girdle muscular dystrophy, recessive +4 more	GBenign/Likely benign
Select item 552843	NM_000070.3(CAPN3):c.801+1G>A	CAPN3	Single nucleotide variant (splice donor variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A +1 more	GPathogenic
Select item 1135030	NM_000070.3(CAPN3):c.1062G>A (p.Val354=)	CAPN3	Single nucleotide variant (synonymous variant)	Muscular dystrophy, limb-girdle, autosomal dominant 4 +1 more	GConflicting classifications of pathogenicity
Select item 254857	NM_000070.3(CAPN3):c.1194-26C>G	CAPN3	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 282173	NM_000070.3(CAPN3):c.1303G>A (p.Glu435Lys)	CAPN3 (E435K +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A +4 more	GPathogenic/Likely pathogenic
Select item 1150476	NM_000070.3(CAPN3):c.1395G>A (p.Leu465=)	CAPN3, LOC130056921	Single nucleotide variant (synonymous variant)	Muscular dystrophy, limb-girdle, autosomal dominant 4 +1 more	GConflicting classifications of pathogenicity
Select item 968561	NM_000070.3(CAPN3):c.1478G>A (p.Arg493Gln)	CAPN3 (R445Q +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A +2 more	GUncertain significance
Select item 92406	NM_000070.3(CAPN3):c.1537-48T>C	CAPN3	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 254862	NM_000070.3(CAPN3):c.1668C>T (p.Ile556=)	CAPN3	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 680086	NM_000070.3(CAPN3):c.1746-64C>T	CAPN3	Single nucleotide variant (intron variant)	Muscular dystrophy, limb-girdle, autosomal dominant 4 +2 more	GBenign/Likely benign
Select item 678278	NM_000070.3(CAPN3):c.1992+110T>C	CAPN3	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A +2 more	GBenign
Select item 1210371	NM_000070.3(CAPN3):c.2177C>T (p.Ala726Val)	CAPN3 (A214V +4 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1210369	NM_000070.3(CAPN3):c.2195A>C (p.Lys732Thr)	CAPN3 (K220T +4 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A +1 more	GUncertain significance
Select item 281081	NM_000070.3(CAPN3):c.2257G>A (p.Asp753Asn)	CAPN3 (D753N +4 more)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 678305	NM_000070.3(CAPN3):c.2381-79T>C	CAPN3	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A +2 more	GBenign
Select item 286594	NM_000070.3(CAPN3):c.*134C>T	CAPN3	Single nucleotide variant (3 prime UTR variant)	Limb-girdle muscular dystrophy, recessive +4 more	GBenign

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Items: 25