C4748295[trait identifier] AND "Neuberg Centre For Genomic Medicine, N - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 557732	NM_000070.3(CAPN3):c.1298_1299del (p.Val433fs)	CAPN3 (V385fs +1 more)	Microsatellite (frameshift variant)	Muscular dystrophy, limb-girdle, autosomal dominant 4 +2 more	GPathogenic/Likely pathogenic
Select item 193792	NM_000070.3(CAPN3):c.1477C>T (p.Arg493Trp)	CAPN3 (R493W +1 more)	Single nucleotide variant (missense variant)	Muscular dystrophy, limb-girdle, autosomal dominant 4 +2 more	GPathogenic/Likely pathogenic
Select item 289372	NM_000070.3(CAPN3):c.1817C>T (p.Ser606Leu)	CAPN3 (S606L +2 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy +3 more	GPathogenic/Likely pathogenic
Select item 2585336	NM_000070.3(CAPN3):c.1910dup (p.Gln638fs)	CAPN3 (Q632fs +2 more)	Duplication (frameshift variant +1 more)	Muscular dystrophy, limb-girdle, autosomal dominant 4 +1 more	GLikely pathogenic
Select item 281184	NM_000070.3(CAPN3):c.2051-1G>T	CAPN3	Single nucleotide variant (splice acceptor variant)	Muscular dystrophy, limb-girdle, autosomal dominant 4 +2 more	GPathogenic
Select item 555001	NM_000070.3(CAPN3):c.2230A>G (p.Ser744Gly)	CAPN3 (S744G +4 more)	Single nucleotide variant (missense variant)	Muscular dystrophy, limb-girdle, autosomal dominant 4 +3 more	GConflicting classifications of pathogenicity
Select item 128570	NM_000070.3(CAPN3):c.2243G>A (p.Arg748Gln)	CAPN3 (R748Q +4 more)	Single nucleotide variant (missense variant)	Muscular dystrophy, limb-girdle, autosomal dominant 4 +3 more	GPathogenic/Likely pathogenic
Select item 2585299	NM_000070.3(CAPN3):c.2319dup (p.His774fs)	CAPN3 (H682fs +4 more)	Duplication (frameshift variant)	Muscular dystrophy, limb-girdle, autosomal dominant 4	GLikely pathogenic
Select item 195641	NM_000070.3(CAPN3):c.2338G>C (p.Asp780His)	CAPN3 (D780H +4 more)	Single nucleotide variant (missense variant)	Muscular dystrophy, limb-girdle, autosomal dominant 4 +2 more	GPathogenic