NKX2-6[gene] - ClinVar - NCBI

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	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 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC130000015, LOC130000016 +3658 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	DEFA1B, DEFA3 +3658 more	Copy number gain	See cases	GPathogenic
Select item 152909	GRCh38/hg38 8p23.3-12(chr8:226452-34491890)x3	LOC129999850, LOC129999851 +1038 more	Copy number gain	See cases	GPathogenic
Select item 148741	GRCh38/hg38 8p23.3-11.23(chr8:226452-38021728)x3	ADAM28, ADAM7 +1103 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	LOC110121192, LOC110121196 +3656 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	AARD, ABRA +3652 more	Copy number gain	See cases	GPathogenic
Select item 149882	GRCh38/hg38 8p23.3-12(chr8:241605-31091074)x3	LOC129999981, LOC129999982 +996 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	LOC130000067, LOC130000068 +3656 more	Copy number gain	See cases	GPathogenic
Select item 146786	GRCh38/hg38 8p23.3-21.2(chr8:241605-24656971)x3	ADAM28, ADAM7 +736 more	Copy number gain	See cases	GPathogenic
Select item 2579290	GRCh38/hg38 8p23.3-21.2(chr8:449893-23854904)x1	DMTN, DOK2 +720 more	Copy number loss	Neurodevelopmental disorder	GPathogenic
Select item 161037	GRCh38/hg38 8p23.2-21.1(chr8:2475295-27504279)x1	MTUS1-DT, NAT1 +773 more	Copy number loss	See cases	GPathogenic
Select item 32400	GRCh38/hg38 8p23.3-21.1(chr8:2475295-27504279)x1	LOC126860289, LOC126860290 +773 more	Copy number loss	See cases	GPathogenic
Select item 151133	GRCh38/hg38 8p23.1-11.22(chr8:7141697-38695546)x3	LOC129999803, LOC129999804 +1018 more	Copy number gain	See cases	GPathogenic
Select item 150733	GRCh38/hg38 8p23.1-11.23(chr8:11851113-37216333)x3	LOC129999922, LOC129999923 +694 more	Copy number gain	See cases	GPathogenic
Select item 148174	GRCh38/hg38 8p23.1-11.1(chr8:12182421-43673207)x3	LOC130000263, LOC130000264 +935 more	Copy number gain	See cases	GPathogenic
Select item 149191	GRCh38/hg38 8p23.1-21.1(chr8:12382844-28625564)x3	ADAM28, ADAM7 +499 more	Copy number gain	See cases	GPathogenic
Select item 154449	GRCh38/hg38 8p23.1-12(chr8:12383584-29033946)x1	LOC113788274, LOC114827823 +510 more	Copy number loss	See cases	GPathogenic
Select item 146257	GRCh38/hg38 8p23.1-11.1(chr8:12383584-43673207)x3	ADAM18, ADAM2 +932 more	Copy number gain	See cases	GPathogenic
Select item 57442	GRCh38/hg38 8p23.1-12(chr8:12383584-36370018)x3	LOC132089594, LOC132089595 +663 more	Copy number gain	See cases	GPathogenic
Select item 161033	GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3	ADAM18, ADAM2 +868 more	Copy number gain	See cases	GPathogenic
Select item 146507	GRCh38/hg38 8p23.1-11.1(chr8:12609975-43673207)x3	LOC130000231, LOC130000232 +927 more	Copy number gain	See cases	GPathogenic
Select item 59764	GRCh38/hg38 8p23.1-11.1(chr8:12609975-43336172)x3	LOC126860340, LOC126860341 +927 more	Copy number gain	See cases	GPathogenic
Select item 59763	GRCh38/hg38 8p23.1-11.23(chr8:12609975-37892000)x3	LOC130000118, LOC130000119 +703 more	Copy number gain	See cases	GPathogenic
Select item 34276	GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3	LOC130000005, LOC130000006 +868 more	Copy number gain	See cases	GPathogenic
Select item 155441	GRCh38/hg38 8p23.1-11.21(chr8:12633490-40685533)x3	LOC121740715, LOC124049166 +816 more	Copy number gain	See cases	GPathogenic
Select item 151014	GRCh38/hg38 8p23.1-11.1(chr8:12646123-43686843)x3	LOC130000093, LOC130000094 +927 more	Copy number gain	See cases	GPathogenic
Select item 148997	GRCh38/hg38 8p23.1-12(chr8:12698495-35476082)x3	LOC124153130, LOC124153131 +651 more	Copy number gain	See cases	GPathogenic
Select item 2579268	GRCh38/hg38 8p23.1-12(chr8:12721809-30183737)x1	ADAM28, ADAM7 +567 more	Copy number loss	Microcephaly	GPathogenic
Select item 147664	GRCh38/hg38 8p23.1-12(chr8:12725750-30180521)x3	ADAM28, ADAM7 +567 more	Copy number gain	See cases	GPathogenic
Select item 161019	GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3	ADAM18, ADAM2 +920 more	Copy number gain	See cases	GPathogenic
Select item 147303	GRCh38/hg38 8p23.1-11.21(chr8:12728904-40169194)x3	LOC130000259, LOC130000260 +805 more	Copy number gain	See cases	GPathogenic
Select item 57410	GRCh38/hg38 8p23.1-11.21(chr8:12728904-41928741)x3	LOC129999968, LOC129999969 +855 more	Copy number gain	See cases	GPathogenic
Select item 32941	GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3	LOC130000066, LOC130000067 +920 more	Copy number gain	See cases	GPathogenic
Select item 150985	GRCh38/hg38 8p23.1-11.22(chr8:12729023-39235934)x3	LOC130000067, LOC130000068 +789 more	Copy number gain	See cases	GPathogenic
Select item 59767	GRCh38/hg38 8p23.1-12(chr8:12750796-29445409)x3	RHOBTB2, SCARA3 +523 more	Copy number gain	See cases	GPathogenic
Select item 59766	GRCh38/hg38 8p23.1-11.1(chr8:12750796-43532444)x3	TNFRSF10A, TNFRSF10A-DT +920 more	Copy number gain	See cases	GPathogenic
Select item 59769	GRCh38/hg38 8p22-q11.21(chr8:14940110-47929925)x3	ADAM18, ADAM2 +898 more	Copy number gain	See cases	GPathogenic
Select item 154680	GRCh38/hg38 8p22-12(chr8:18972996-33619264)x1	ADAM28, ADAM7 +532 more	Copy number loss	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	GPAT4, GPAT4-AS1 +3106 more	Copy number gain	See cases	GPathogenic
Select item 148813	GRCh38/hg38 8p21.3-21.2(chr8:22946697-25125997)x3	ADAM28, ADAM7 +72 more	Copy number gain	See cases	GUncertain significance
Select item 549618	NC_000008.11:g.23671119_23712463dup	LOC130000041, LOC130000042 +2 more	Duplication	Primary amenorrhea	GLikely benign
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 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 2635716	NM_001136271.3(NKX2-6):c.878C>A (p.Ala293Asp)	NKX2-6 (A293D)	Single nucleotide variant (missense variant)	NKX2-6-related condition	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 1704762	NM_001136271.3(NKX2-6):c.638_669del (p.Leu213fs)	NKX2-6 (L213fs)	Deletion (frameshift variant)	not provided	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 2434372	NM_001136271.3(NKX2-6):c.620G>A (p.Arg207Gln)	NKX2-6 (R207Q)	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 2401689	NM_001136271.3(NKX2-6):c.589G>A (p.Glu197Lys)	NKX2-6 (E197K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2432235	NM_001136271.3(NKX2-6):c.568C>T (p.Gln190Ter)	NKX2-6 (Q190*)	Single nucleotide variant (nonsense)	Conotruncal heart malformations	GLikely pathogenic
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 2309208	NM_001136271.3(NKX2-6):c.479C>G (p.Pro160Arg)	NKX2-6 (P160R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 1172828	NM_001136271.3(NKX2-6):c.455dup (p.Gln153fs)	NKX2-6 (Q153fs)	Duplication (frameshift variant)	Cerebral palsy +1 more	GLikely pathogenic; risk factor
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 133345	NM_001136271.3(NKX2-6):c.453_454insT (p.Lys152Ter)	NKX2-6 (K152*)	Insertion (nonsense)	Conotruncal heart malformations	GLikely pathogenic
Select item 791	NM_001136271.3(NKX2-6):c.451T>C (p.Phe151Leu)	NKX2-6 (F151L)	Single nucleotide variant (missense variant)	Persistent truncus arteriosus	GPathogenic
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 2596443	NM_001136271.3(NKX2-6):c.437C>T (p.Ala146Val)	NKX2-6 (A146V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2630912	NM_001136271.3(NKX2-6):c.404C>T (p.Pro135Leu)	NKX2-6 (P135L)	Single nucleotide variant (missense variant)	NKX2-6-related condition	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)	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 2634446	NM_001136271.3(NKX2-6):c.362del (p.Gly121fs)	NKX2-6 (G121fs)	Deletion (frameshift variant)	NKX2-6-related condition	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 2630304	NM_001136271.3(NKX2-6):c.354C>A (p.Ser118Arg)	NKX2-6 (S118R)	Single nucleotide variant (missense variant)	NKX2-6-related condition	GUncertain significance
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

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