"Fulgent Genetics, Fulgent Genetics"[submitter] AND "SGCG"[gene] - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 805445	NM_000231.3(SGCG):c.1-3C>T	SGCG (Q18*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GUncertain significance
Select item 1256426	NM_000231.3(SGCG):c.100C>T (p.Arg34Cys)	SGCG (R34C +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C +1 more	GUncertain significance
Select item 290344	NM_000231.3(SGCG):c.142G>A (p.Val48Ile)	SGCG (V48I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 461622	NM_000231.3(SGCG):c.157C>T (p.Leu53Phe)	SGCG (L53F +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 461623	NM_000231.3(SGCG):c.436G>A (p.Asp146Asn)	SGCG (D146N +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C +1 more	GUncertain significance
Select item 461624	NM_000231.3(SGCG):c.439G>A (p.Gly147Ser)	SGCG (G147S +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C	GUncertain significance
Select item 859443	NM_000231.3(SGCG):c.496C>T (p.Arg166Ter)	SGCG (R166* +1 more)	Single nucleotide variant (nonsense)	Autosomal recessive limb-girdle muscular dystrophy type 2C +1 more	GPathogenic
Select item 1076779	NM_000231.3(SGCG):c.511G>T (p.Glu171Ter)	SGCG (E171* +1 more)	Single nucleotide variant (nonsense)	Autosomal recessive limb-girdle muscular dystrophy type 2C	GPathogenic/Likely pathogenic
Select item 189243	NM_000231.3(SGCG):c.525del (p.Phe175fs)	SGCG (F193fs)	Deletion (frameshift variant)	SGCG-related congenital myopathy +2 more	GPathogenic/Likely pathogenic
Select item 285130	NM_000231.3(SGCG):c.596G>A (p.Arg199Gln)	SGCG (R199Q +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 501292	NM_000231.3(SGCG):c.629A>G (p.His210Arg)	SGCG (H210R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 548510	NM_000231.3(SGCG):c.653T>C (p.Ile218Thr)	SGCG (I218T +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C +2 more	GUncertain significance
Select item 1409713	NM_000231.3(SGCG):c.781C>G (p.Leu261Val)	SGCG (L279V +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C	GUncertain significance
Select item 500355	NM_000231.3(SGCG):c.792C>G (p.Ile264Met)	SGCG (I264M +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2C +1 more	GUncertain significance
Select item 2006	NM_000231.3(SGCG):c.848G>A (p.Cys283Tyr)	SGCG (C283Y +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic