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

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Items: 67

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 653156	NM_001136271.3(NKX2-6):c.895A>G (p.Arg299Gly)	NKX2-6 (R299G)	Single nucleotide variant (missense variant)	Conotruncal heart malformations	GUncertain significance
Select item 534675	NM_001136271.3(NKX2-6):c.867C>T (p.Gly289=)	NKX2-6	Single nucleotide variant (synonymous variant)	Conotruncal heart malformations	GLikely benign
Select item 534673	NM_001136271.3(NKX2-6):c.826G>T (p.Ala276Ser)	NKX2-6 (A276S)	Single nucleotide variant (missense variant)	Conotruncal heart malformations	GUncertain significance
Select item 2847617	NM_001136271.3(NKX2-6):c.801T>C (p.Pro267=)	NKX2-6	Single nucleotide variant (synonymous variant)	Conotruncal heart malformations	GLikely benign
Select item 466319	NM_001136271.3(NKX2-6):c.786C>G (p.Gly262=)	NKX2-6	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 2900025	NM_001136271.3(NKX2-6):c.780C>T (p.Tyr260=)	NKX2-6	Single nucleotide variant (synonymous variant)	Conotruncal heart malformations	GLikely benign
Select item 2712063	NM_001136271.3(NKX2-6):c.771C>T (p.Gly257=)	NKX2-6	Single nucleotide variant (synonymous variant)	Conotruncal heart malformations	GLikely benign
Select item 1077541	NM_001136271.3(NKX2-6):c.771C>G (p.Gly257=)	NKX2-6	Single nucleotide variant (synonymous variant)	Conotruncal heart malformations	GLikely benign
Select item 534672	NM_001136271.3(NKX2-6):c.745G>A (p.Gly249Arg)	NKX2-6 (G249R)	Single nucleotide variant (missense variant)	Conotruncal heart malformations	GUncertain significance
Select item 1989335	NM_001136271.3(NKX2-6):c.698C>A (p.Pro233His)	NKX2-6 (P233H)	Single nucleotide variant (missense variant)	Conotruncal heart malformations	GUncertain significance
Select item 744053	NM_001136271.3(NKX2-6):c.693C>T (p.Pro231=)	NKX2-6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 573392	NM_001136271.3(NKX2-6):c.686C>T (p.Ala229Val)	NKX2-6 (A229V)	Single nucleotide variant (missense variant)	Conotruncal heart malformations	GUncertain significance
Select item 849923	NM_001136271.3(NKX2-6):c.673C>T (p.Pro225Ser)	NKX2-6 (P225S)	Single nucleotide variant (missense variant)	Conotruncal heart malformations	GUncertain significance
Select item 849922	NM_001136271.3(NKX2-6):c.649G>T (p.Gly217Cys)	NKX2-6 (G217C)	Single nucleotide variant (missense variant)	Conotruncal heart malformations	GUncertain significance
Select item 1368828	NM_001136271.3(NKX2-6):c.644G>A (p.Arg215His)	NKX2-6 (R215H)	Single nucleotide variant (missense variant)	Conotruncal heart malformations +1 more	GUncertain significance
Select item 2721580	NM_001136271.3(NKX2-6):c.632C>G (p.Pro211Arg)	NKX2-6 (P211R)	Single nucleotide variant (missense variant)	Conotruncal heart malformations	GUncertain significance
Select item 1021570	NM_001136271.3(NKX2-6):c.625G>T (p.Ala209Ser)	NKX2-6 (A209S)	Single nucleotide variant (missense variant)	Conotruncal heart malformations	GUncertain significance
Select item 2754386	NM_001136271.3(NKX2-6):c.614C>T (p.Pro205Leu)	NKX2-6 (P205L)	Single nucleotide variant (missense variant)	Conotruncal heart malformations	GUncertain significance
Select item 1513585	NM_001136271.3(NKX2-6):c.593T>C (p.Leu198Pro)	NKX2-6 (L198P)	Single nucleotide variant (missense variant)	Conotruncal heart malformations	GUncertain significance
Select item 2890547	NM_001136271.3(NKX2-6):c.572G>T (p.Arg191Leu)	NKX2-6 (R191L)	Single nucleotide variant (missense variant)	Conotruncal heart malformations	GUncertain significance
Select item 1002887	NM_001136271.3(NKX2-6):c.543G>C (p.Gln181His)	NKX2-6 (Q181H)	Single nucleotide variant (missense variant)	Conotruncal heart malformations	GUncertain significance
Select item 1398180	NM_001136271.3(NKX2-6):c.538T>C (p.Phe180Leu)	NKX2-6 (F180L)	Single nucleotide variant (missense variant)	Conotruncal heart malformations	GUncertain significance
Select item 2750660	NM_001136271.3(NKX2-6):c.521C>T (p.Thr174Met)	NKX2-6 (T174M)	Single nucleotide variant (missense variant)	Conotruncal heart malformations	GUncertain significance
Select item 1087961	NM_001136271.3(NKX2-6):c.516G>A (p.Thr172=)	NKX2-6	Single nucleotide variant (synonymous variant)	Conotruncal heart malformations	GLikely benign
Select item 1003022	NM_001136271.3(NKX2-6):c.478C>T (p.Pro160Ser)	NKX2-6 (P160S)	Single nucleotide variant (missense variant)	Conotruncal heart malformations	GUncertain significance
Select item 701675	NM_001136271.3(NKX2-6):c.468C>T (p.Tyr156=)	NKX2-6	Single nucleotide variant (synonymous variant)	Conotruncal heart malformations	GLikely benign
Select item 1393632	NM_001136271.3(NKX2-6):c.464G>C (p.Arg155Pro)	NKX2-6 (R155P)	Single nucleotide variant (missense variant)	Conotruncal heart malformations	GUncertain significance
Select item 570512	NM_001136271.3(NKX2-6):c.464G>T (p.Arg155Leu)	NKX2-6 (R155L)	Single nucleotide variant (missense variant)	Conotruncal heart malformations	GUncertain significance
Select item 2080069	NM_001136271.3(NKX2-6):c.446G>A (p.Arg149Gln)	NKX2-6 (R149Q)	Single nucleotide variant (missense variant)	Conotruncal heart malformations	GUncertain significance
Select item 1107854	NM_001136271.3(NKX2-6):c.444G>A (p.Glu148=)	NKX2-6	Single nucleotide variant (synonymous variant)	Conotruncal heart malformations	GLikely benign
Select item 864172	NM_001136271.3(NKX2-6):c.434T>C (p.Leu145Pro)	NKX2-6 (L145P)	Single nucleotide variant (missense variant)	Conotruncal heart malformations	GUncertain significance
Select item 2742621	NM_001136271.3(NKX2-6):c.415T>C (p.Phe139Leu)	NKX2-6 (F139L)	Single nucleotide variant (missense variant)	Conotruncal heart malformations	GUncertain significance
Select item 466318	NM_001136271.3(NKX2-6):c.386C>A (p.Ala129Glu)	NKX2-6 (A129E)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 2849135	NM_001136271.3(NKX2-6):c.381C>G (p.Pro127=)	NKX2-6	Single nucleotide variant (synonymous variant)	Conotruncal heart malformations	GLikely 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 1439841	NM_001136271.3(NKX2-6):c.367C>G (p.Arg123Gly)	NKX2-6 (R123G)	Single nucleotide variant (missense variant)	Conotruncal heart malformations	GUncertain significance
Select item 1041818	NM_001136271.3(NKX2-6):c.364G>T (p.Gly122Cys)	NKX2-6 (G122C)	Single nucleotide variant (missense variant)	Conotruncal heart malformations	GUncertain significance
Select item 466317	NM_001136271.3(NKX2-6):c.359G>C (p.Arg120Pro)	NKX2-6 (R120P)	Single nucleotide variant (missense variant)	not specified +1 more	GLikely benign
Select item 466316	NM_001136271.3(NKX2-6):c.340_348dup (p.Asn114_Gly116dup)	NKX2-6	Duplication (inframe_insertion)	Conotruncal heart malformations	GUncertain significance
Select item 1456828	NM_001136271.3(NKX2-6):c.341A>G (p.Asn114Ser)	NKX2-6 (N114S)	Single nucleotide variant (missense variant)	Conotruncal heart malformations	GLikely benign
Select item 2966995	NM_001136271.3(NKX2-6):c.340A>C (p.Asn114His)	NKX2-6 (N114H)	Single nucleotide variant (missense variant)	Conotruncal heart malformations	GUncertain significance
Select item 2145317	NM_001136271.3(NKX2-6):c.315del (p.Arg106fs)	NKX2-6 (R106fs)	Deletion (frameshift variant)	Conotruncal heart malformations	GUncertain significance
Select item 2145318	NM_001136271.3(NKX2-6):c.314C>G (p.Thr105Ser)	NKX2-6 (T105S)	Single nucleotide variant (missense variant)	Conotruncal heart malformations	GUncertain significance
Select item 2958255	NM_001136271.3(NKX2-6):c.298C>A (p.Pro100Thr)	NKX2-6 (P100T)	Single nucleotide variant (missense variant)	Conotruncal heart malformations	GUncertain significance
Select item 2047096	NM_001136271.3(NKX2-6):c.291G>A (p.Ala97=)	NKX2-6	Single nucleotide variant (synonymous variant)	Conotruncal heart malformations	GLikely benign
Select item 1513612	NM_001136271.3(NKX2-6):c.281G>T (p.Gly94Val)	NKX2-6 (G94V)	Single nucleotide variant (missense variant)	Conotruncal heart malformations	GUncertain significance
Select item 534674	NM_001136271.3(NKX2-6):c.276G>A (p.Gln92=)	NKX2-6	Single nucleotide variant (synonymous variant)	NKX2-6-related condition +1 more	GConflicting classifications of pathogenicity
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 2161539	NM_001136271.3(NKX2-6):c.226C>T (p.Pro76Ser)	NKX2-6 (P76S)	Single nucleotide variant (missense variant)	Conotruncal heart malformations	GUncertain significance
Select item 1164513	NM_001136271.3(NKX2-6):c.204T>C (p.Asp68=)	NKX2-6	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 775969	NM_001136271.3(NKX2-6):c.196A>C (p.Lys66Gln)	NKX2-6 (K66Q)	Single nucleotide variant (missense variant)	Conotruncal heart malformations	GLikely benign
Select item 466314	NM_001136271.3(NKX2-6):c.183C>T (p.Gly61=)	NKX2-6	Single nucleotide variant (synonymous variant)	NKX2-6-related condition +1 more	GBenign
Select item 972419	NM_001136271.3(NKX2-6):c.181G>A (p.Gly61Ser)	NKX2-6 (G61S)	Single nucleotide variant (missense variant)	Conotruncal heart malformations	GUncertain significance
Select item 466313	NM_001136271.3(NKX2-6):c.180C>T (p.Gly60=)	NKX2-6	Single nucleotide variant (synonymous variant)	Conotruncal heart malformations	GLikely benign
Select item 1001000	NM_001136271.3(NKX2-6):c.171C>A (p.Asn57Lys)	NKX2-6 (N57K)	Single nucleotide variant (missense variant)	Conotruncal heart malformations	GUncertain significance
Select item 1008180	NM_001136271.3(NKX2-6):c.168C>A (p.His56Gln)	NKX2-6 (H56Q)	Single nucleotide variant (missense variant)	Conotruncal heart malformations	GUncertain significance
Select item 2710725	NM_001136271.3(NKX2-6):c.156G>T (p.Gly52=)	NKX2-6	Single nucleotide variant (synonymous variant)	Conotruncal heart malformations	GLikely benign
Select item 696313	NM_001136271.3(NKX2-6):c.150G>T (p.Pro50=)	NKX2-6	Single nucleotide variant (synonymous variant)	Conotruncal heart malformations	GLikely benign
Select item 2699643	NM_001136271.3(NKX2-6):c.142G>T (p.Ala48Ser)	NKX2-6 (A48S)	Single nucleotide variant (missense variant)	Conotruncal heart malformations	GUncertain significance
Select item 1382817	NM_001136271.3(NKX2-6):c.125A>G (p.Gln42Arg)	NKX2-6 (Q42R)	Single nucleotide variant (missense variant)	Conotruncal heart malformations	GUncertain significance
Select item 466312	NM_001136271.3(NKX2-6):c.121T>A (p.Phe41Ile)	NKX2-6 (F41I)	Single nucleotide variant (missense variant)	Conotruncal heart malformations	GUncertain significance
Select item 2030140	NM_001136271.3(NKX2-6):c.86_87insT (p.Pro30fs)	NKX2-6 (P30fs)	Insertion (frameshift variant)	Conotruncal heart malformations	GUncertain significance
Select item 2766997	NM_001136271.3(NKX2-6):c.67C>A (p.Arg23=)	NKX2-6	Single nucleotide variant (synonymous variant)	Conotruncal heart malformations	GLikely benign
Select item 1046880	NM_001136271.3(NKX2-6):c.50T>C (p.Leu17Pro)	NKX2-6 (L17P)	Single nucleotide variant (missense variant)	Conotruncal heart malformations	GUncertain significance
Select item 1058355	NM_001136271.3(NKX2-6):c.35C>T (p.Ser12Leu)	NKX2-6 (S12L)	Single nucleotide variant (missense variant)	Conotruncal heart malformations	GUncertain significance
Select item 466315	NM_001136271.3(NKX2-6):c.29C>G (p.Pro10Arg)	NKX2-6 (P10R)	Single nucleotide variant (missense variant)	NKX2-6-related condition +1 more	GLikely benign
Select item 1410288	NC_000008.10:g.(?_21900440)_(23564111_?)dup	BIN3, BMP1 +32 more	Duplication	Conotruncal heart malformations	GUncertain significance

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Items: 67