"Ambry Genetics"[submitter] AND "SSR4"[gene] - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3108029	NM_004135.4(IDH3G):c.37G>C (p.Ala13Pro)	IDH3G, SSR4 (A13P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2283389	NM_006280.3(SSR4):c.32C>T (p.Ala11Val)	SSR4 (A19V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2347022	NM_006280.3(SSR4):c.67+2T>C	SSR4	Single nucleotide variant (splice donor variant)	Inborn genetic diseases	GUncertain significance
Select item 2285036	NM_006280.3(SSR4):c.70G>A (p.Glu24Lys)	SSR4 (E35K +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3170490	NM_006280.3(SSR4):c.80T>C (p.Leu27Pro)	SSR4 (L38P +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2295641	NM_006280.3(SSR4):c.136G>A (p.Glu46Lys)	SSR4 (E54K +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2282284	NM_006280.3(SSR4):c.247G>T (p.Val83Leu)	SSR4 (V91L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3170491	NM_006280.3(SSR4):c.278A>G (p.Asp93Gly)	SSR4 (D101G +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1991997	NM_006280.3(SSR4):c.289G>A (p.Ala97Thr)	SSR4 (A105T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1981885	NM_006280.3(SSR4):c.314G>A (p.Arg105Lys)	SSR4 (R113K +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3170492	NM_006280.3(SSR4):c.327G>C (p.Glu109Asp)	SSR4 (E120D +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 971849	NM_006280.3(SSR4):c.406G>A (p.Val136Met)	SSR4 (V136M +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1001033	NM_006280.3(SSR4):c.461C>T (p.Ala154Val)	SSR4 (A154V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2227728	NM_006280.3(SSR4):c.472C>T (p.Leu158Phe)	SSR4 (L158F +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance