"GeneDx"[submitter] AND "NKX2-6"[gene] - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59735	GRCh38/hg38 8p23.3-12(chr8:96310-30614703)x3	ADAM28, ADAM7 +979 more	Copy number gain	See cases	GPathogenic
Select item 152909	GRCh38/hg38 8p23.3-12(chr8:226452-34491890)x3	LOC130000099, LOC130000100 +1040 more	Copy number gain	See cases	GPathogenic
Select item 59766	GRCh38/hg38 8p23.1-11.1(chr8:12750796-43532444)x3	ADAM18, ADAM2 +922 more	Copy number gain	See cases	GPathogenic
Select item 59769	GRCh38/hg38 8p22-q11.21(chr8:14940110-47929925)x3	LOC130000309, LOC130000310 +900 more	Copy number gain	See cases	GPathogenic
Select item 1271443	NM_001136271.3(NKX2-6):c.*203A>G	NKX2-6	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1276300	NM_001136271.3(NKX2-6):c.*46dup	NKX2-6	Duplication (3 prime UTR variant)	not provided	GBenign
Select item 466319	NM_001136271.3(NKX2-6):c.786C>G (p.Gly262=)	NKX2-6	Single nucleotide variant (synonymous variant)	Conotruncal heart malformations +2 more	GBenign
Select item 1704762	NM_001136271.3(NKX2-6):c.638_669del (p.Leu213fs)	NKX2-6 (L213fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1310432	NM_001136271.3(NKX2-6):c.455A>C (p.Lys152Thr)	NKX2-6 (K152T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 451686	NM_001136271.3(NKX2-6):c.401A>T (p.Lys134Met)	NKX2-6 (K134M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 466318	NM_001136271.3(NKX2-6):c.386C>A (p.Ala129Glu)	NKX2-6 (A129E)	Single nucleotide variant (missense variant)	Conotruncal heart malformations +2 more	GBenign/Likely benign
Select item 1311053	NM_001136271.3(NKX2-6):c.368G>A (p.Arg123His)	NKX2-6 (R123H)	Single nucleotide variant (missense variant)	Conotruncal heart malformations +1 more	GConflicting classifications of pathogenicity
Select item 1243233	NM_001136271.3(NKX2-6):c.275-53C>T	NKX2-6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230277	NM_001136271.3(NKX2-6):c.275-237T>G	NKX2-6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1285955	NM_001136271.3(NKX2-6):c.275-250G>C	NKX2-6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249565	NM_001136271.3(NKX2-6):c.275-301C>T	NKX2-6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229183	NM_001136271.3(NKX2-6):c.274+205G>T	NKX2-6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1707287	NM_001136271.3(NKX2-6):c.274+135A>G	NKX2-6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1289325	NM_001136271.3(NKX2-6):c.274+23C>T	NKX2-6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 423840	NM_001136271.3(NKX2-6):c.274C>A (p.Gln92Lys)	NKX2-6 (Q92K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1164513	NM_001136271.3(NKX2-6):c.204T>C (p.Asp68=)	NKX2-6	Single nucleotide variant (synonymous variant)	Conotruncal heart malformations +2 more	GBenign
Select item 1256724	NM_001136271.3(NKX2-6):c.-144G>A	NKX2-6	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 253392	GRCh37/hg19 8p23.1-21.2(chr8:12580132-26774307)x3	ADAM28, ADAM7 +82 more	Copy number gain	See cases	GPathogenic

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Items: 23