SFTA3[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59932	GRCh38/hg38 14q11.2-21.1(chr14:20000611-38984415)x3	LOC130055392, LOC130055393 +780 more	Copy number gain	See cases	GPathogenic
Select item 155119	GRCh38/hg38 14q11.2-21.2(chr14:20022693-44093672)x3	ABHD4, ACIN1 +814 more	Copy number gain	See cases	GPathogenic
Select item 155681	GRCh38/hg38 14q11.2-21.3(chr14:20043513-48642042)x3	OR10G2, OR10G3 +859 more	Copy number gain	See cases	GPathogenic
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126862060, LOC126862061 +3282 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	See cases	GPathogenic
Select item 57745	GRCh38/hg38 14q11.2-21.2(chr14:20196945-45284802)x1	LOC112214170, LOC112214171 +840 more	Copy number loss	See cases	GPathogenic
Select item 57750	GRCh38/hg38 14q11.2-21.1(chr14:23548960-41983402)x1	MIR4503, MIR624 +399 more	Copy number loss	See cases	GPathogenic
Select item 146008	GRCh38/hg38 14q12-21.1(chr14:30382554-37712341)x1	AKAP6, AP4S1 +179 more	Copy number loss	See cases	GPathogenic
Select item 58523	GRCh38/hg38 14q12-21.2(chr14:30670314-44990595)x3	INSM2, KLHL28 +237 more	Copy number gain	See cases	GPathogenic
Select item 154996	GRCh38/hg38 14q12-21.2(chr14:30792271-44685131)x1	LOC126861917, LOC126861918 +225 more	Copy number loss	See cases	GPathogenic
Select item 154047	GRCh38/hg38 14q13.1-21.1(chr14:33880412-42359485)x1	BAZ1A, BAZ1A-AS1 +156 more	Copy number loss	See cases	GPathogenic
Select item 148775	GRCh38/hg38 14q13.2-21.2(chr14:35068276-43994777)x1	BRMS1L, CLEC14A +113 more	Copy number loss	See cases	GPathogenic
Select item 147567	GRCh38/hg38 14q13.2-13.3(chr14:35514078-36814016)x1	BRMS1L, INSM2 +26 more	Copy number loss	See cases	GPathogenic
Select item 154357	GRCh38/hg38 14q13.3(chr14:36191711-37228500)x3	LOC108281111, LOC110120901 +19 more	Copy number gain	See cases	GPathogenic
Select item 57775	GRCh38/hg38 14q13.3-21.1(chr14:36434568-41102476)x1	CLEC14A, FBXO33 +62 more	Copy number loss	See cases	GPathogenic
Select item 150975	GRCh38/hg38 14q13.3(chr14:36484306-36677450)x3	LOC108281111, LOC110121326 +6 more	Copy number gain	See cases	GLikely benign
Select item 635557	NM_001079668.3(NKX2-1):c.(?_-1)_*(1206_?)del	NKX2-1, NKX2-1-AS1 +1 more	Deletion	Benign hereditary chorea +1 more	GPathogenic
Select item 313122	NM_001079668.3(NKX2-1):c.*820A>G	NKX2-1, SFTA3	Single nucleotide variant (3 prime UTR variant)	Brain-lung-thyroid syndrome +1 more	GUncertain significance
Select item 2431155	NM_001079668.3(NKX2-1):c.*726G>C	NKX2-1, SFTA3	Single nucleotide variant (3 prime UTR variant)	Squamous cell carcinoma	GUncertain significance
Select item 313123	NM_001079668.3(NKX2-1):c.*581del	NKX2-1, SFTA3	Deletion (3 prime UTR variant)	Brain-lung-thyroid syndrome +1 more	GLikely benign
Select item 313124	NM_001079668.3(NKX2-1):c.*579C>G	NKX2-1, SFTA3	Single nucleotide variant (3 prime UTR variant)	Benign hereditary chorea +1 more	GBenign
Select item 883820	NM_001079668.3(NKX2-1):c.*577C>T	NKX2-1, SFTA3	Single nucleotide variant (3 prime UTR variant)	Brain-lung-thyroid syndrome +1 more	GUncertain significance
Select item 313125	NM_001079668.3(NKX2-1):c.*544G>A	NKX2-1, SFTA3	Single nucleotide variant (3 prime UTR variant)	Benign hereditary chorea +1 more	GUncertain significance
Select item 883821	NM_001079668.3(NKX2-1):c.*536C>T	NKX2-1, SFTA3	Single nucleotide variant (3 prime UTR variant)	Brain-lung-thyroid syndrome +1 more	GUncertain significance
Select item 313126	NM_001079668.3(NKX2-1):c.*470A>G	NKX2-1, SFTA3	Single nucleotide variant (3 prime UTR variant)	Brain-lung-thyroid syndrome +1 more	GUncertain significance
Select item 313129	NM_001079668.3(NKX2-1):c.*460dup	NKX2-1, SFTA3	Duplication (3 prime UTR variant)	Brain-lung-thyroid syndrome +1 more	GUncertain significance
Select item 313127	NM_001079668.3(NKX2-1):c.459_460dup	NKX2-1, SFTA3	Duplication (3 prime UTR variant)	Brain-lung-thyroid syndrome +1 more	GUncertain significance
Select item 313128	NM_001079668.3(NKX2-1):c.*460del	NKX2-1, SFTA3	Deletion (3 prime UTR variant)	Brain-lung-thyroid syndrome +2 more	GUncertain significance
Select item 313130	NM_001079668.3(NKX2-1):c.*436A>C	NKX2-1, SFTA3	Single nucleotide variant (3 prime UTR variant)	Benign hereditary chorea +1 more	GBenign
Select item 2431068	NM_001079668.3(NKX2-1):c.*303del	NKX2-1, SFTA3	Deletion (3 prime UTR variant)	Lung adenocarcinoma	GBenign
Select item 313131	NM_001079668.3(NKX2-1):c.*292dup	NKX2-1, SFTA3	Duplication (3 prime UTR variant)	not provided +2 more	GBenign
Select item 1287959	NM_001079668.3(NKX2-1):c.*217dup	NKX2-1, SFTA3	Duplication (3 prime UTR variant)	not provided	GBenign
Select item 313132	NM_001079668.3(NKX2-1):c.*210dup	NKX2-1, SFTA3	Duplication (3 prime UTR variant)	Brain-lung-thyroid syndrome +2 more	GConflicting classifications of pathogenicity
Select item 313133	NM_001079668.3(NKX2-1):c.*210T>A	SFTA3, NKX2-1	Single nucleotide variant (3 prime UTR variant)	Benign hereditary chorea +2 more	GBenign
Select item 313134	NM_001079668.3(NKX2-1):c.*209T>A	NKX2-1, SFTA3	Single nucleotide variant (3 prime UTR variant)	Brain-lung-thyroid syndrome +2 more	GBenign
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 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 1272844	NM_001079668.3(NKX2-1):c.184_186C[5]ACCC[1]	NKX2-1, SFTA3	Insertion (3 prime UTR variant)	not provided	GBenign
Select item 313136	NM_001079668.3(NKX2-1):c.185_186dup	NKX2-1, SFTA3	Duplication (3 prime UTR variant)	Brain-lung-thyroid syndrome +1 more	GUncertain significance
Select item 313135	NM_001079668.3(NKX2-1):c.*186dup	NKX2-1, SFTA3	Duplication (3 prime UTR variant)	Brain-lung-thyroid syndrome +1 more	GUncertain significance
Select item 1291743	NM_001079668.3(NKX2-1):c.176_179del	NKX2-1, SFTA3	Deletion (3 prime UTR variant)	not provided	GBenign
Select item 881936	NM_001079668.3(NKX2-1):c.*179T>C	NKX2-1, SFTA3	Single nucleotide variant (3 prime UTR variant)	Benign hereditary chorea +1 more	GBenign
Select item 1179695	NM_001079668.3(NKX2-1):c.*143C>A	NKX2-1, SFTA3	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 313137	NM_001079668.3(NKX2-1):c.*14C>T	NKX2-1, SFTA3	Single nucleotide variant (3 prime UTR variant)	Benign hereditary chorea +1 more	GLikely benign
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 419364	NM_001079668.3(NKX2-1):c.1206A>C (p.Ter402Cys)	NKX2-1, SFTA3	Single nucleotide variant (stop lost)	not provided	GPathogenic
Select item 984956	NM_001079668.3(NKX2-1):c.1204dup (p.Ter402LeuextTer?)	NKX2-1, SFTA3	Duplication (frameshift variant +1 more)	Benign hereditary chorea	GPathogenic
Select item 313138	NM_001079668.3(NKX2-1):c.1200C>T (p.Thr400=)	NKX2-1, SFTA3	Single nucleotide variant (synonymous variant)	Benign hereditary chorea +2 more	GConflicting classifications of pathogenicity
Select item 2019805	NM_001079668.3(NKX2-1):c.1189_1191del (p.Tyr397del)	NKX2-1, SFTA3 (Y367del +1 more)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 257333	NM_001079668.3(NKX2-1):c.1191C>T (p.Tyr397=)	NKX2-1, SFTA3	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1298579	NM_001079668.3(NKX2-1):c.1187T>C (p.Leu396Pro)	NKX2-1, SFTA3 (L366P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 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 2065522	NM_001079668.3(NKX2-1):c.1161C>A (p.Tyr387Ter)	NKX2-1, SFTA3 (Y357* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1580719	NM_001079668.3(NKX2-1):c.1161C>T (p.Tyr387=)	NKX2-1, SFTA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1563607	NM_001079668.3(NKX2-1):c.1155G>C (p.Ser385=)	NKX2-1, SFTA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1553332	NM_001079668.3(NKX2-1):c.1152C>A (p.Gly384=)	NKX2-1, SFTA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 689466	NM_001079668.3(NKX2-1):c.1143CTC[1] (p.Ser383del)	NKX2-1, SFTA3 (S383del +1 more)	Microsatellite (inframe_deletion)	Brain-lung-thyroid syndrome +1 more	GUncertain significance
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 1418530	NM_001079668.3(NKX2-1):c.1131_1132insACACCCAGTTCAGGTG (p.Ser378fs)	NKX2-1, SFTA3 (S378fs +1 more)	Insertion (frameshift variant)	not provided	GPathogenic
Select item 701215	NM_001079668.3(NKX2-1):c.1131G>C (p.Leu377=)	NKX2-1, SFTA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 697580	NM_001079668.3(NKX2-1):c.1131G>A (p.Leu377=)	NKX2-1, SFTA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 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 487553	NM_001079668.3(NKX2-1):c.1106C>T (p.Ala369Val)	NKX2-1, SFTA3 (A339V +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 313140	NM_001079668.3(NKX2-1):c.1093G>T (p.Ala365Ser)	NKX2-1, SFTA3 (A365S +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
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 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 2421829	NM_001079668.3(NKX2-1):c.1070C>T (p.Ser357Phe)	NKX2-1, SFTA3 (S327F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1377274	NM_001079668.3(NKX2-1):c.1066C>T (p.Gln356Ter)	NKX2-1, SFTA3 (Q356* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
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 2115885	NM_001079668.3(NKX2-1):c.1062A>C (p.Ala354=)	NKX2-1, SFTA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1130737	NM_001079668.3(NKX2-1):c.1054G>A (p.Gly352Ser)	SFTA3, NKX2-1 (G322S +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 495058	NM_001079668.3(NKX2-1):c.1050del (p.Gln350fs)	NKX2-1, SFTA3 (Q320fs +1 more)	Deletion (frameshift variant)	Benign hereditary chorea	GPathogenic
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 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 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 1548000	NM_001079668.3(NKX2-1):c.1029T>C (p.Leu343=)	NKX2-1, SFTA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 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 1384433	NM_001079668.3(NKX2-1):c.1015G>A (p.Gly339Ser)	NKX2-1, SFTA3 (G339S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1711370	NM_001079668.3(NKX2-1):c.1010del (p.Gly337fs)	SFTA3, NKX2-1 (G307fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 766304	NM_001079668.3(NKX2-1):c.1005C>T (p.Ser335=)	NKX2-1, SFTA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 444326	NM_001079668.3(NKX2-1):c.1003del (p.Ser335fs)	NKX2-1, SFTA3 (S335fs +1 more)	Deletion (frameshift variant)	not provided	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 702483	NM_001079668.3(NKX2-1):c.996G>C (p.Ala332=)	NKX2-1, SFTA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 817714	NM_001079668.3(NKX2-1):c.976_994del (p.Ala326fs)	SFTA3, NKX2-1 (A296fs +1 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2190471	NM_001079668.3(NKX2-1):c.981G>T (p.Ala327=)	NKX2-1, SFTA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 423844	NM_001079668.3(NKX2-1):c.964_975dup (p.His322_Gln325dup)	NKX2-1, SFTA3	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 1320416	NM_001079668.3(NKX2-1):c.964_975del (p.His322_Gln325del)	NKX2-1, SFTA3	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 971826	NM_001079668.3(NKX2-1):c.975G>C (p.Gln325His)	NKX2-1, SFTA3 (Q325H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 803015	NM_001079668.3(NKX2-1):c.961C>A (p.Gln321Lys)	SFTA3, NKX2-1 (Q291K +1 more)	Single nucleotide variant (missense variant)	Brain-lung-thyroid syndrome	GUncertain significance
Select item 1942202	NM_001079668.3(NKX2-1):c.953A>C (p.Gln318Pro)	NKX2-1, SFTA3 (Q318P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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