"Ambry Genetics"[submitter] AND "NKX3-2"[gene] - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2512790	NM_001189.4(NKX3-2):c.860G>T (p.Arg287Leu)	NKX3-2 (R287L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2249190	NM_001189.4(NKX3-2):c.646G>A (p.Ala216Thr)	LOC129992265, NKX3-2 (A216T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2601524	NM_001189.4(NKX3-2):c.613C>A (p.Arg205Ser)	LOC129992265, NKX3-2 (R205S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 597510	NM_001189.4(NKX3-2):c.599C>T (p.Ala200Val)	LOC129992265, NKX3-2 (A200V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1400680	NM_001189.4(NKX3-2):c.596C>A (p.Pro199Gln)	LOC129992265, NKX3-2 (P199Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2311195	NM_001189.4(NKX3-2):c.578C>A (p.Ala193Glu)	LOC129992265, NKX3-2 (A193E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2279316	NM_001189.4(NKX3-2):c.550G>A (p.Gly184Arg)	NKX3-2 (G184R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1498198	NM_001189.4(NKX3-2):c.544G>A (p.Gly182Ser)	NKX3-2 (G182S)	Single nucleotide variant (missense variant)	Connective tissue disorder +2 more	GUncertain significance
Select item 2304394	NM_001189.4(NKX3-2):c.542C>T (p.Ala181Val)	NKX3-2 (A181V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2233923	NM_001189.4(NKX3-2):c.521T>C (p.Val174Ala)	NKX3-2 (V174A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2263819	NM_001189.4(NKX3-2):c.398C>T (p.Ala133Val)	NKX3-2 (A133V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1428468	NM_001189.4(NKX3-2):c.383C>G (p.Pro128Arg)	NKX3-2 (P128R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1369037	NM_001189.4(NKX3-2):c.355G>C (p.Ala119Pro)	NKX3-2 (A119P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2481209	NM_001189.4(NKX3-2):c.332G>A (p.Arg111Gln)	NKX3-2 (R111Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1383107	NM_001189.4(NKX3-2):c.306G>T (p.Glu102Asp)	NKX3-2 (E102D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1967364	NM_001189.4(NKX3-2):c.265G>A (p.Glu89Lys)	NKX3-2 (E89K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1524780	NM_001189.4(NKX3-2):c.261C>G (p.Ser87Arg)	NKX3-2 (S87R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1436169	NM_001189.4(NKX3-2):c.224C>T (p.Ala75Val)	NKX3-2 (A75V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2524313	NM_001189.4(NKX3-2):c.177C>G (p.Asp59Glu)	NKX3-2 (D59E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2536838	NM_001189.4(NKX3-2):c.158G>T (p.Arg53Leu)	NKX3-2 (R53L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1372454	NM_001189.4(NKX3-2):c.116C>G (p.Thr39Arg)	NKX3-2 (T39R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2293251	NM_001189.4(NKX3-2):c.100C>T (p.Pro34Ser)	NKX3-2 (P34S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2534340	NM_001189.4(NKX3-2):c.82G>C (p.Ala28Pro)	NKX3-2 (A28P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2519686	NM_001189.4(NKX3-2):c.77G>T (p.Gly26Val)	NKX3-2 (G26V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2534339	NM_001189.4(NKX3-2):c.31T>C (p.Ser11Pro)	NKX3-2 (S11P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign

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Items: 25