"Ambry Genetics"[submitter] AND "NKX2-8"[gene] - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2400792	NM_014360.4(NKX2-8):c.712A>G (p.Asn238Asp)	NKX2-8 (N238D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299929	NM_014360.4(NKX2-8):c.698C>T (p.Ala233Val)	NKX2-8 (A233V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375744	NM_014360.4(NKX2-8):c.697G>A (p.Ala233Thr)	NKX2-8 (A233T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485134	NM_014360.4(NKX2-8):c.694C>T (p.Pro232Ser)	NKX2-8 (P232S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340356	NM_014360.4(NKX2-8):c.674C>T (p.Ala225Val)	NKX2-8 (A225V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241556	NM_014360.4(NKX2-8):c.653C>G (p.Ser218Trp)	NKX2-8 (S218W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241704	NM_014360.4(NKX2-8):c.638C>T (p.Ala213Val)	NKX2-8 (A213V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229301	NM_014360.4(NKX2-8):c.632A>G (p.Tyr211Cys)	NKX2-8 (Y211C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297281	NM_014360.4(NKX2-8):c.614C>T (p.Ala205Val)	NKX2-8 (A205V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299931	NM_014360.4(NKX2-8):c.604C>A (p.Pro202Thr)	NKX2-8 (P202T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200377	NM_014360.4(NKX2-8):c.592T>C (p.Cys198Arg)	NKX2-8 (C198R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488713	NM_014360.4(NKX2-8):c.583C>A (p.Gln195Lys)	NKX2-8 (Q195K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211760	NM_014360.4(NKX2-8):c.581C>A (p.Ala194Asp)	NKX2-8 (A194D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211759	NM_014360.4(NKX2-8):c.580G>A (p.Ala194Thr)	NKX2-8 (A194T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299930	NM_014360.4(NKX2-8):c.543C>G (p.Cys181Trp)	NKX2-8 (C181W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200376	NM_014360.4(NKX2-8):c.532G>A (p.Gly178Arg)	NKX2-8 (G178R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219632	NM_014360.4(NKX2-8):c.500G>A (p.Arg167His)	NKX2-8 (R167H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200375	NM_014360.4(NKX2-8):c.455A>C (p.Asp152Ala)	NKX2-8 (D152A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374001	NM_014360.4(NKX2-8):c.446A>G (p.Glu149Gly)	NKX2-8 (E149G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333363	NM_014360.4(NKX2-8):c.404A>G (p.His135Arg)	NKX2-8 (H135R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610917	NM_014360.4(NKX2-8):c.383T>A (p.Val128Asp)	NKX2-8 (V128D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200374	NM_014360.4(NKX2-8):c.308T>C (p.Phe103Ser)	NKX2-8 (F103S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200373	NM_014360.4(NKX2-8):c.263G>A (p.Arg88Gln)	NKX2-8 (R88Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558148	NM_014360.4(NKX2-8):c.242C>T (p.Ala81Val)	NKX2-8 (A81V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200372	NM_014360.4(NKX2-8):c.240C>G (p.Asp80Glu)	NKX2-8 (D80E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531857	NM_014360.4(NKX2-8):c.233G>A (p.Gly78Asp)	NKX2-8 (G78D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200371	NM_014360.4(NKX2-8):c.232G>A (p.Gly78Ser)	NKX2-8 (G78S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384670	NM_014360.4(NKX2-8):c.149A>G (p.His50Arg)	NKX2-8 (H50R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200378	NM_014360.4(NKX2-8):c.76C>T (p.Pro26Ser)	NKX2-8 (P26S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 29