ClinVar for PMC (Select 2781300) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1421844	NM_000023.4(SGCA):c.829C>T (p.Pro277Ser)	SGCA (P277S)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D	GUncertain significance
Select item 224674	NM_001039885.2(FKRP):c.[74C>A(;)76_77del(;)826C>A]	FKRP (L276I +2 more)	Single nucleotide variant (missense variant +2 more)	Autosomal recessive limb-girdle muscular dystrophy type 2I	GLikely pathogenic
Select item 217213	NM_004006.3(DMD):c.8038C>T (p.Arg2680Ter)	DMD (R2680* +6 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 128572	NM_000070.3(CAPN3):c.551C>T (p.Thr184Met)	CAPN3 (T184M)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 92420	NM_000070.3(CAPN3):c.706G>A (p.Ala236Thr)	CAPN3 (A236T)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 8280	NM_033337.3(CAV3):c.84C>A (p.Asp28Glu)	CAV3 (D28E)	Single nucleotide variant (missense variant)	Rippling muscle disease 2	GPathogenic
Select item 4221	NM_024301.5(FKRP):c.826C>A (p.Leu276Ile)	FKRP (L276I)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy +21 more	GPathogenic/Likely pathogenic

ClinVar