ClinVar for MedGen (Select 868233) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 17621	NM_000070.3(CAPN3):c.550del (p.Thr184fs)	CAPN3 (T184fs)	Deletion (frameshift variant)	CAPN3-related disorder +24 more	GPathogenic