"Ambry Genetics"[submitter] AND "SFTA3"[gene] - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3299906	NM_001079668.3(NKX2-1):c.1040C>T (p.Pro347Leu)	NKX2-1, SFTA3 (P317L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2552375	NM_001079668.3(NKX2-1):c.995C>A (p.Ala332Glu)	NKX2-1, SFTA3 (A302E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3015956	NM_001079668.3(NKX2-1):c.966C>G (p.His322Gln)	NKX2-1, SFTA3 (H322Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 3299910	NM_001079668.3(NKX2-1):c.946G>A (p.Ala316Thr)	NKX2-1, SFTA3 (A286T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 520948	NM_001079668.3(NKX2-1):c.921_930del (p.Gly308fs)	SFTA3, NKX2-1 (G308fs +1 more)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 2237904	NM_001079668.3(NKX2-1):c.910G>C (p.Ala304Pro)	NKX2-1, SFTA3 (A274P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2516441	NM_001079668.3(NKX2-1):c.896C>T (p.Pro299Leu)	NKX2-1, SFTA3 (P269L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 521977	NM_001079668.3(NKX2-1):c.818_825del (p.Gly273fs)	SFTA3, NKX2-1 (G273fs +1 more)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 3299907	NM_001079668.3(NKX2-1):c.808G>A (p.Gly270Arg)	NKX2-1, SFTA3 (G240R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 985241	NM_001079668.3(NKX2-1):c.695C>T (p.Pro232Leu)	NKX2-1, SFTA3 (P202L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GPathogenic/Likely pathogenic
Select item 521085	NM_001079668.3(NKX2-1):c.646del (p.Leu216fs)	NKX2-1, SFTA3 (L186fs +1 more)	Deletion (frameshift variant)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 985595	NM_001079668.3(NKX2-1):c.623G>C (p.Arg208Pro)	NKX2-1, SFTA3 (R178P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 521215	NM_001079668.3(NKX2-1):c.617T>A (p.Leu206Gln)	NKX2-1, SFTA3 (L176Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GPathogenic
Select item 8979	NM_001079668.3(NKX2-1):c.613G>T (p.Glu205Ter)	NKX2-1, SFTA3 (E175* +1 more)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 2216736	NM_001079668.3(NKX2-1):c.530G>T (p.Gly177Val)	NKX2-1, SFTA3 (G177V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2534337	NM_001079668.3(NKX2-1):c.484G>A (p.Ala162Thr)	NKX2-1, SFTA3 (A162T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3299908	NM_001079668.3(NKX2-1):c.349T>G (p.Cys117Gly)	NKX2-1, SFTA3 (C117G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2229317	NM_001079668.3(NKX2-1):c.292T>G (p.Tyr98Asp)	NKX2-1, SFTA3 (Y68D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2560536	NM_001079668.3(NKX2-1):c.255G>C (p.Gln85His)	NKX2-1, SFTA3 (Q85H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2304217	NM_001079668.3(NKX2-1):c.249G>T (p.Met83Ile)	NKX2-1, SFTA3 (M53I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2282469	NM_001079668.3(NKX2-1):c.244G>C (p.Ala82Pro)	NKX2-1, SFTA3 (A52P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2304218	NM_001079668.3(NKX2-1):c.188G>T (p.Gly63Val)	NKX2-1, SFTA3 (G33V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 986074	NM_001079668.3(NKX2-1):c.170_182del (p.Val57fs)	NKX2-1, NKX2-1-AS1 +1 more (V27fs +1 more)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 2226941	NM_001079668.3(NKX2-1):c.110A>C (p.His37Pro)	NKX2-1, NKX2-1-AS1 +1 more (H37P +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2382560	NM_001079668.3(NKX2-1):c.107A>C (p.Lys36Thr)	NKX2-1, NKX2-1-AS1 +1 more (K36T +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance

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Items: 25