"ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 208611	NM_000231.3(SGCG):c.195+4_195+7del	SGCG	Microsatellite (splice donor variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C +1 more	GPathogenic
Select item 530809	NM_000231.3(SGCG):c.346C>T (p.Arg116Cys)	SGCG (R116C +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C	GUncertain significance
Select item 92655	NM_000231.3(SGCG):c.347G>A (p.Arg116His)	SGCG (R116H +1 more)	Single nucleotide variant (missense variant)	Limb-girdle muscular dystrophy, recessive +4 more	GBenign/Likely benign
Select item 285717	NM_000231.3(SGCG):c.455C>T (p.Thr152Ile)	SGCG (T152I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 811251	NM_000231.3(SGCG):c.505+15G>T	SGCG	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C	GLikely benign
Select item 1331039	NM_000231.3(SGCG):c.824C>T (p.Ser275Phe)	SGCG (S275F +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C	GUncertain significance
Select item 167681	NM_000231.3(SGCG):c.860A>G (p.Asn287Ser)	SACS, SGCG (N287S +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 255599	NM_000231.3(SGCG):c.*10G>A	SGCG	Single nucleotide variant (3 prime UTR variant)	Sarcoglycanopathy +3 more	GConflicting classifications of pathogenicity