"Ambry Genetics"[submitter] AND "SGCG"[gene] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 530808	NM_000231.3(SGCG):c.22A>G (p.Thr8Ala)	SGCG (T8A +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C +1 more	GUncertain significance
Select item 2622161	NM_000231.3(SGCG):c.38T>A (p.Ile13Asn)	SGCG (I31N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3160988	NM_000231.3(SGCG):c.344C>T (p.Ala115Val)	SGCG (A133V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3317915	NM_000231.3(SGCG):c.529C>A (p.His177Asn)	SGCG (H177N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2493034	NM_000231.3(SGCG):c.599G>T (p.Ser200Ile)	SGCG (S218I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1016199	NM_000231.3(SGCG):c.623G>T (p.Gly208Val)	SGCG (G208V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 311481	NM_000231.3(SGCG):c.703C>T (p.Leu235Phe)	SGCG (L235F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GUncertain significance
Select item 3160989	NM_000231.3(SGCG):c.707T>C (p.Val236Ala)	SGCG (V236A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3160990	NM_000231.3(SGCG):c.821T>C (p.Leu274Pro)	SGCG (L274P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance