ClinVar for Gene (Select 7080) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3370655	NM_001079668.3(NKX2-1):c.53G>T (p.Gly18Val)	NKX2-1, NKX2-1-AS1 (G18V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368009	NM_001079668.3(NKX2-1):c.8C>A (p.Ser3Tyr)	NKX2-1, NKX2-1-AS1 (S3Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364431	NM_001079668.3(NKX2-1):c.623G>T (p.Arg208Leu)	NKX2-1, SFTA3 (R178L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363285	NM_001079668.3(NKX2-1):c.558G>A (p.Leu186=)	NKX2-1, SFTA3	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3344369	NM_001079668.3(NKX2-1):c.196G>A (p.Ala66Thr)	NKX2-1, SFTA3 (A36T +1 more)	Single nucleotide variant (missense variant)	NKX2-1-related disorder	GUncertain significance
Select item 3343742	NM_001079668.3(NKX2-1):c.650C>G (p.Ser217Trp)	NKX2-1, SFTA3 (S187W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3343627	NM_001079668.3(NKX2-1):c.25G>T (p.Ala9Ser)	NKX2-1, NKX2-1-AS1 (A9S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3339902	NM_001079668.3(NKX2-1):c.1166C>G (p.Thr389Ser)	NKX2-1, SFTA3 (T359S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3339885	NM_001079668.3(NKX2-1):c.43_64dup (p.Pro22fs)	NKX2-1, NKX2-1-AS1 (P22fs)	Duplication (frameshift variant)	Benign hereditary chorea	GPathogenic
Select item 3299910	NM_001079668.3(NKX2-1):c.946G>A (p.Ala316Thr)	NKX2-1, SFTA3 (A286T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3299908	NM_001079668.3(NKX2-1):c.349T>G (p.Cys117Gly)	NKX2-1, SFTA3 (C117G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3299907	NM_001079668.3(NKX2-1):c.808G>A (p.Gly270Arg)	NKX2-1, SFTA3 (G240R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3299906	NM_001079668.3(NKX2-1):c.1040C>T (p.Pro347Leu)	NKX2-1, SFTA3 (P317L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3257301	NM_001079668.3(NKX2-1):c.1122A>G (p.Val374=)	NKX2-1, SFTA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3244100	NC_000014.8:g.(?_36986483)_(37203798_?)dup	NKX2-1, NKX2-8 +2 more	Duplication	not provided	GUncertain significance
Select item 3244062	NC_000014.8:g.(?_36986483)_(37489008_?)del	NKX2-1, NKX2-8 +2 more	Deletion	not provided	GPathogenic
Select item 3234068	NM_001079668.3(NKX2-1):c.246_276del (p.Met83fs)	NKX2-1, SFTA3 (M53fs +1 more)	Deletion (frameshift variant)	Benign hereditary chorea	GLikely pathogenic
Select item 3075710	NM_001079668.3(NKX2-1):c.512_576del (p.Gly171fs)	NKX2-1, SFTA3 (G141fs +1 more)	Deletion (frameshift variant)	Brain-lung-thyroid syndrome	GPathogenic
Select item 3063324	GRCh37/hg19 14q12-21.2(chr14:29190489-45325177)x1	AKAP6, AP4S1 +48 more	Copy number loss	not specified	GPathogenic
Select item 3053142	NM_001079668.3(NKX2-1):c.915del (p.Ala306fs)	NKX2-1, SFTA3 (A276fs +1 more)	Deletion (frameshift variant)	NKX2-1-related disorder	GPathogenic
Select item 3023105	NM_001079668.3(NKX2-1):c.555G>A (p.Pro185=)	NKX2-1, SFTA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3015956	NM_001079668.3(NKX2-1):c.966C>G (p.His322Gln)	NKX2-1, SFTA3 (H322Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2998716	NM_001079668.3(NKX2-1):c.528G>T (p.Leu176=)	SFTA3, NKX2-1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2995816	NM_001079668.3(NKX2-1):c.677G>C (p.Ser226Thr)	NKX2-1, SFTA3 (S196T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2994574	NM_001079668.3(NKX2-1):c.879G>A (p.Leu293=)	NKX2-1, SFTA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2974013	NM_001079668.3(NKX2-1):c.651G>T (p.Ser217=)	NKX2-1, SFTA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2961633	NM_001079668.3(NKX2-1):c.941G>A (p.Gly314Asp)	NKX2-1, SFTA3 (G284D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2959360	NM_001079668.3(NKX2-1):c.399C>G (p.Thr133=)	NKX2-1, SFTA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2919084	NM_001079668.3(NKX2-1):c.77+11C>A	NKX2-1, NKX2-1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2918597	NM_001079668.3(NKX2-1):c.1137C>A (p.His379Gln)	NKX2-1, SFTA3 (H379Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2898331	NM_001079668.3(NKX2-1):c.567G>A (p.Ala189=)	NKX2-1, SFTA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2896974	NM_001079668.3(NKX2-1):c.505G>A (p.Gly169Ser)	NKX2-1, SFTA3 (G139S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2886946	NM_001079668.3(NKX2-1):c.174C>T (p.Gly58=)	NKX2-1, SFTA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2884153	NM_001079668.3(NKX2-1):c.651G>C (p.Ser217=)	NKX2-1, SFTA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2883935	NM_001079668.3(NKX2-1):c.848A>T (p.Gln283Leu)	NKX2-1, SFTA3 (Q283L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2855544	NM_001079668.3(NKX2-1):c.1206A>G (p.Ter402Trp)	NKX2-1, SFTA3	Single nucleotide variant (stop lost)	not provided	GLikely pathogenic
Select item 2840265	NM_001079668.3(NKX2-1):c.532dup (p.Asp178fs)	NKX2-1, SFTA3 (D148fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2830842	NM_001079668.3(NKX2-1):c.692dup (p.Pro232fs)	NKX2-1, SFTA3 (P202fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2811731	NM_001079668.3(NKX2-1):c.77+7C>A	NKX2-1, NKX2-1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2805362	NM_001079668.3(NKX2-1):c.1024G>A (p.Gly342Ser)	NKX2-1, SFTA3 (G312S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2805029	NM_001079668.3(NKX2-1):c.7T>C (p.Ser3Pro)	NKX2-1-AS1, NKX2-1 (S3P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2791560	NM_001079668.3(NKX2-1):c.1109T>A (p.Leu370Gln)	NKX2-1, SFTA3 (L340Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2771332	NM_001079668.3(NKX2-1):c.605A>C (p.Gln202Pro)	NKX2-1, SFTA3 (Q202P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2758581	NM_001079668.3(NKX2-1):c.580C>G (p.Arg194Gly)	NKX2-1, SFTA3 (R164G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2739203	NM_001079668.3(NKX2-1):c.821G>C (p.Cys274Ser)	NKX2-1, SFTA3 (C274S +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2739200	NM_001079668.3(NKX2-1):c.825G>T (p.Pro275=)	NKX2-1, SFTA3	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 2738048	NM_001079668.3(NKX2-1):c.1073C>G (p.Pro358Arg)	NKX2-1, SFTA3 (P358R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2736107	NM_001079668.3(NKX2-1):c.463+5G>C	NKX2-1, SFTA3	Single nucleotide variant (intron variant)	not provided	GPathogenic
Select item 2734100	NM_001079668.3(NKX2-1):c.1082C>T (p.Ala361Val)	NKX2-1, SFTA3 (A331V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2703391	NM_001079668.3(NKX2-1):c.948_949del (p.Gln317fs)	NKX2-1, SFTA3 (Q287fs +1 more)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 2695518	NM_001079668.3(NKX2-1):c.644A>G (p.Tyr215Cys)	NKX2-1, SFTA3 (Y185C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2685482	GRCh37/hg19 14q13.1-13.3(chr14:34585231-37477843)x1	BAZ1A, BRMS1L +19 more	Copy number loss	not provided	GPathogenic
Select item 2684714	GRCh37/hg19 14q11.2-23.1(chr14:20511673-61826023)x3	ABHD12B, ABHD4 +289 more	Copy number gain	not provided	GPathogenic
Select item 2663455	NM_001079668.3(NKX2-1):c.311G>A (p.Gly104Glu)	NKX2-1, SFTA3 (G104E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2644180	NM_001079668.3(NKX2-1):c.420C>T (p.Gly140=)	NKX2-1, SFTA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2644179	NM_001079668.3(NKX2-1):c.184_186C[4]ACCC[1]	NKX2-1, SFTA3	Insertion (3 prime UTR variant)	not provided	GLikely benign
Select item 2644178	NM_001079668.3(NKX2-1):c.186_187insCCACTC	NKX2-1, SFTA3	Insertion (3 prime UTR variant)	not provided	GLikely benign
Select item 2584746	NM_001079668.3(NKX2-1):c.429G>A (p.Trp143Ter)	NKX2-1, SFTA3 (W113* +1 more)	Single nucleotide variant (nonsense)	Benign hereditary chorea	GPathogenic
Select item 2584530	NM_001079668.3(NKX2-1):c.989_1016dup (p.Ala341fs)	NKX2-1, SFTA3 (A311fs +1 more)	Duplication (frameshift variant)	NKX2-1-related disorder	GPathogenic
Select item 2576182	NM_001079668.3(NKX2-1):c.319C>T (p.Gln107Ter)	NKX2-1, SFTA3 (Q107* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2573887	NM_001079668.3(NKX2-1):c.965A>G (p.His322Arg)	NKX2-1, SFTA3 (H292R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2572697	NM_001079668.3(NKX2-1):c.817G>T (p.Gly273Trp)	NKX2-1, SFTA3 (G243W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2570877	NM_001079668.3(NKX2-1):c.184_186C[6]ACCC[1]	NKX2-1, SFTA3	Insertion (3 prime UTR variant)	not provided	GLikely benign
Select item 2560536	NM_001079668.3(NKX2-1):c.255G>C (p.Gln85His)	NKX2-1, SFTA3 (Q85H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2552375	NM_001079668.3(NKX2-1):c.995C>A (p.Ala332Glu)	NKX2-1, SFTA3 (A302E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2534337	NM_001079668.3(NKX2-1):c.484G>A (p.Ala162Thr)	NKX2-1, SFTA3 (A162T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2516441	NM_001079668.3(NKX2-1):c.896C>T (p.Pro299Leu)	NKX2-1, SFTA3 (P269L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2506944	NM_001079668.3(NKX2-1):c.456_457delinsACGG (p.Phe152fs)	NKX2-1, SFTA3 (F122fs +1 more)	Indel (frameshift variant)	Benign hereditary chorea	GPathogenic
Select item 2506943	NM_001079668.3(NKX2-1):c.196del (p.Ala66fs)	NKX2-1, SFTA3 (A36fs +1 more)	Deletion (frameshift variant)	Brain-lung-thyroid syndrome	GPathogenic
Select item 2506942	NM_001079668.3(NKX2-1):c.336_345del (p.Val113fs)	NKX2-1, SFTA3 (V113fs +1 more)	Deletion (frameshift variant)	Brain-lung-thyroid syndrome	GPathogenic
Select item 2506941	NM_001079668.3(NKX2-1):c.1025del (p.Gly342fs)	NKX2-1, SFTA3 (G312fs +1 more)	Deletion (frameshift variant)	Benign hereditary chorea	GLikely pathogenic
Select item 2506940	NM_001079668.3(NKX2-1):c.481_485del (p.Pro161fs)	NKX2-1, SFTA3 (P131fs +1 more)	Deletion (frameshift variant)	Brain-lung-thyroid syndrome	GLikely pathogenic
Select item 2506939	NM_001079668.3(NKX2-1):c.647del (p.Leu216fs)	NKX2-1, SFTA3 (L186fs +1 more)	Deletion (frameshift variant)	Brain-lung-thyroid syndrome	GPathogenic
Select item 2506938	NM_001079668.3(NKX2-1):c.905del (p.Ala302fs)	NKX2-1, SFTA3 (A272fs +1 more)	Deletion (frameshift variant)	Brain-lung-thyroid syndrome	GLikely pathogenic
Select item 2506937	NM_001079668.3(NKX2-1):c.423del (p.Gly142fs)	NKX2-1, SFTA3 (G112fs +1 more)	Deletion (frameshift variant)	Brain-lung-thyroid syndrome	GPathogenic
Select item 2506935	NM_001079668.3(NKX2-1):c.605A>T (p.Gln202Leu)	NKX2-1, SFTA3 (Q172L +1 more)	Single nucleotide variant (missense variant)	Brain-lung-thyroid syndrome	GLikely pathogenic
Select item 2506934	NM_001079668.3(NKX2-1):c.622C>T (p.Arg208Ter)	NKX2-1, SFTA3 (R178* +1 more)	Single nucleotide variant (nonsense)	Brain-lung-thyroid syndrome	GPathogenic
Select item 2506933	NM_001079668.3(NKX2-1):c.711C>G (p.Ile237Met)	NKX2-1, SFTA3 (I207M +1 more)	Single nucleotide variant (missense variant)	Brain-lung-thyroid syndrome	GPathogenic
Select item 2506932	NM_001079668.3(NKX2-1):c.724C>G (p.His242Asp)	NKX2-1, SFTA3 (H212D +1 more)	Single nucleotide variant (missense variant)	Brain-lung-thyroid syndrome	GLikely pathogenic
Select item 2506931	NM_001079668.3(NKX2-1):c.701A>T (p.Gln234Leu)	NKX2-1, SFTA3 (Q204L +1 more)	Single nucleotide variant (missense variant)	Brain-lung-thyroid syndrome	GLikely pathogenic
Select item 2506930	NM_001079668.3(NKX2-1):c.348C>G (p.Tyr116Ter)	NKX2-1, SFTA3 (Y116* +1 more)	Single nucleotide variant (nonsense)	Brain-lung-thyroid syndrome	GLikely pathogenic
Select item 2506929	NM_001079668.3(NKX2-1):c.704T>C (p.Val235Ala)	NKX2-1, SFTA3 (V205A +1 more)	Single nucleotide variant (missense variant)	Brain-lung-thyroid syndrome	GLikely pathogenic
Select item 2506928	NM_001079668.3(NKX2-1):c.650C>A (p.Ser217Ter)	NKX2-1, SFTA3 (S187* +1 more)	Single nucleotide variant (nonsense)	Brain-lung-thyroid syndrome	GPathogenic
Select item 2506927	NM_001079668.3(NKX2-1):c.728G>C (p.Arg243Pro)	NKX2-1, SFTA3 (R213P +1 more)	Single nucleotide variant (missense variant)	Brain-lung-thyroid syndrome	GLikely pathogenic
Select item 2506926	NM_001079668.3(NKX2-1):c.822C>A (p.Cys274Ter)	NKX2-1, SFTA3 (C244* +1 more)	Single nucleotide variant (nonsense)	Brain-lung-thyroid syndrome	GLikely pathogenic
Select item 2506925	NM_001079668.3(NKX2-1):c.1173C>T (p.Ser391=)	NKX2-1, SFTA3	Single nucleotide variant (synonymous variant)	Brain-lung-thyroid syndrome	GUncertain significance
Select item 2506918	NM_001079668.3(NKX2-1):c.1045dup (p.His349fs)	NKX2-1, SFTA3 (H319fs +1 more)	Duplication (frameshift variant)	Brain-lung-thyroid syndrome	GLikely pathogenic
Select item 2506917	NM_001079668.3(NKX2-1):c.583del (p.Arg195fs)	NKX2-1, SFTA3 (R165fs +1 more)	Deletion (frameshift variant)	Brain-lung-thyroid syndrome	GPathogenic
Select item 2506916	NM_001079668.3(NKX2-1):c.1040del (p.Pro347fs)	NKX2-1, SFTA3 (P317fs +1 more)	Deletion (frameshift variant)	Brain-lung-thyroid syndrome	GLikely pathogenic
Select item 2506915	NM_001079668.3(NKX2-1):c.552_556del (p.Pro185fs)	NKX2-1, SFTA3 (P155fs +1 more)	Deletion (frameshift variant)	Brain-lung-thyroid syndrome	GLikely pathogenic
Select item 2506911	NM_001079668.3(NKX2-1):c.1092_1108del (p.Ser366fs)	NKX2-1, SFTA3 (S336fs +1 more)	Deletion (frameshift variant)	Brain-lung-thyroid syndrome	GLikely pathogenic
Select item 2506907	NM_001079668.3(NKX2-1):c.216del (p.Arg72fs)	NKX2-1, SFTA3 (R42fs +1 more)	Deletion (frameshift variant)	Brain-lung-thyroid syndrome	GPathogenic
Select item 2506899	NM_001079668.3(NKX2-1):c.611_614delinsT (p.Tyr204_Glu205delinsLeu)	NKX2-1, SFTA3	Indel (inframe_indel)	Brain-lung-thyroid syndrome	GLikely pathogenic
Select item 2506884	NM_001079668.3(NKX2-1):c.348C>A (p.Tyr116Ter)	NKX2-1, SFTA3 (Y116* +1 more)	Single nucleotide variant (nonsense)	Brain-lung-thyroid syndrome	GLikely pathogenic
Select item 2506880	NM_001079668.3(NKX2-1):c.997del (p.Ala333fs)	NKX2-1, SFTA3 (A303fs +1 more)	Deletion (frameshift variant)	Brain-lung-thyroid syndrome	GLikely pathogenic
Select item 2506879	NM_001079668.3(NKX2-1):c.1157_1163dup (p.Thr389fs)	NKX2-1, SFTA3 (T359fs +1 more)	Duplication (frameshift variant)	Brain-lung-thyroid syndrome	GLikely pathogenic
Select item 2506878	NM_001079668.3(NKX2-1):c.377_387del (p.Glu126fs)	NKX2-1, SFTA3 (E126fs +1 more)	Deletion (frameshift variant)	Brain-lung-thyroid syndrome	GLikely pathogenic
Select item 2499530	NM_001079668.3(NKX2-1):c.1051_1063del (p.Pro351fs)	SFTA3, NKX2-1 (P321fs +1 more)	Deletion (frameshift variant)	Brain-lung-thyroid syndrome	GLikely pathogenic
Select item 2498592	NM_001079668.3(NKX2-1):c.463+1_463+10del	NKX2-1, SFTA3	Deletion (splice donor variant)	not provided	GPathogenic
Select item 2498216	NM_001079668.3(NKX2-1):c.612C>G (p.Tyr204Ter)	NKX2-1, SFTA3 (Y174* +1 more)	Single nucleotide variant (nonsense)	NKX2-1-related disorder	GPathogenic

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