"PreventionGenetics, part of Exact Sciences"[submitter] AND "NKX2-6"[g - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2635716	NM_001136271.3(NKX2-6):c.878C>A (p.Ala293Asp)	NKX2-6 (A293D)	Single nucleotide variant (missense variant)	NKX2-6-related disorder	GUncertain significance
Select item 466319	NM_001136271.3(NKX2-6):c.786C>G (p.Gly262=)	NKX2-6	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 1368828	NM_001136271.3(NKX2-6):c.644G>A (p.Arg215His)	NKX2-6 (R215H)	Single nucleotide variant (missense variant)	NKX2-6-related disorder +1 more	GUncertain significance
Select item 2630912	NM_001136271.3(NKX2-6):c.404C>T (p.Pro135Leu)	NKX2-6 (P135L)	Single nucleotide variant (missense variant)	NKX2-6-related disorder	GUncertain significance
Select item 2634446	NM_001136271.3(NKX2-6):c.362del (p.Gly121fs)	NKX2-6 (G121fs)	Deletion (frameshift variant)	NKX2-6-related disorder	GUncertain significance
Select item 2630304	NM_001136271.3(NKX2-6):c.354C>A (p.Ser118Arg)	NKX2-6 (S118R)	Single nucleotide variant (missense variant)	NKX2-6-related disorder	GUncertain significance
Select item 534674	NM_001136271.3(NKX2-6):c.276G>A (p.Gln92=)	NKX2-6	Single nucleotide variant (synonymous variant)	Conotruncal heart malformations +1 more	GConflicting classifications of pathogenicity
Select item 466314	NM_001136271.3(NKX2-6):c.183C>T (p.Gly61=)	NKX2-6	Single nucleotide variant (synonymous variant)	Conotruncal heart malformations +1 more	GBenign
Select item 466315	NM_001136271.3(NKX2-6):c.29C>G (p.Pro10Arg)	NKX2-6 (P10R)	Single nucleotide variant (missense variant)	Conotruncal heart malformations +1 more	GLikely benign