C0410173[trait identifier] AND "Neuberg Centre For Genomic Medicine, N - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2585638	NM_000231.3(SGCG):c.92G>A (p.Trp31Ter)	SGCG (W31* +1 more)	Single nucleotide variant (nonsense)	Autosomal recessive limb-girdle muscular dystrophy type 2C	GPathogenic/Likely pathogenic
Select item 2584801	NM_000231.3(SGCG):c.284_287del (p.Ile95fs)	SGCG (I113fs +1 more)	Deletion (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C	GLikely pathogenic
Select item 2671760	NM_000231.3(SGCG):c.284T>G (p.Ile95Arg)	SGCG (I113R +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C	GUncertain significance
Select item 881854	NM_000231.3(SGCG):c.392A>G (p.Lys131Arg)	SGCG (K149R +1 more)	Single nucleotide variant (missense variant)	Sarcoglycanopathy +1 more	GUncertain significance
Select item 3367056	NM_000231.3(SGCG):c.449T>C (p.Leu150Pro)	SGCG (L150P +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C	GUncertain significance
Select item 2585548	NM_000231.3(SGCG):c.786C>G (p.Tyr262Ter)	SGCG (Y280* +1 more)	Single nucleotide variant (nonsense)	Autosomal recessive limb-girdle muscular dystrophy type 2C	GConflicting classifications of pathogenicity

ClinVar