"Centre for Mendelian Genomics, University Medical Centre Ljubljana"[s - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 17621	NM_000070.3(CAPN3):c.550del (p.Thr184fs)	CAPN3 (T184fs)	Deletion (frameshift variant)	Elevated circulating creatine kinase concentration +24 more	GPathogenic
Select item 523316	NM_000070.3(CAPN3):c.632+5G>A	CAPN3	Single nucleotide variant (intron variant)	Muscle weakness +2 more	GLikely pathogenic
Select item 930311	NM_000070.3(CAPN3):c.1113T>A (p.Asp371Glu)	CAPN3 (D323E +1 more)	Single nucleotide variant (missense variant)	Muscular dystrophy, limb-girdle, autosomal dominant 4 +2 more	GUncertain significance
Select item 281062	NM_000070.3(CAPN3):c.1322del (p.Gly441fs)	CAPN3 (G393fs +1 more)	Deletion (frameshift variant)	CAPN3-related disorder +7 more	GPathogenic
Select item 286601	NM_000070.3(CAPN3):c.1516A>G (p.Ile506Val)	CAPN3 (I506V +1 more)	Single nucleotide variant (missense variant)	Muscular dystrophy, limb-girdle, autosomal dominant 4 +2 more	GUncertain significance
Select item 286592	NM_000070.3(CAPN3):c.1524G>A (p.Glu508=)	CAPN3	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A +2 more	GConflicting classifications of pathogenicity
Select item 286600	NM_000070.3(CAPN3):c.1524+3G>A	CAPN3	Single nucleotide variant (intron variant)	not provided +3 more	GUncertain significance
Select item 17614	NM_000070.3(CAPN3):c.1715G>A (p.Arg572Gln)	CAPN3 (R572Q +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic
Select item 92408	NM_000070.3(CAPN3):c.1746-20C>G	CAPN3	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy +3 more	GConflicting classifications of pathogenicity
Select item 283259	NM_000070.3(CAPN3):c.2242C>T (p.Arg748Ter)	CAPN3 (R748* +4 more)	Single nucleotide variant (nonsense)	Muscular dystrophy, limb-girdle, autosomal dominant 4 +2 more	GPathogenic