"GeneDx"[submitter] AND "SFTA3"[gene] - ClinVar

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Items: 46

	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 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 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 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 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 1291743	NM_001079668.3(NKX2-1):c.176_179del	NKX2-1, SFTA3	Deletion (3 prime UTR variant)	not provided	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 419364	NM_001079668.3(NKX2-1):c.1206A>C (p.Ter402Cys)	NKX2-1, SFTA3	Single nucleotide variant (stop lost)	not provided	GPathogenic
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 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 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 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 374740	NM_001079668.3(NKX2-1):c.872C>T (p.Pro291Leu)	NKX2-1, SFTA3 (P291L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 695342	NM_001079668.3(NKX2-1):c.796GGCGGGGGC[3] (p.Gly269_Gly271dup)	NKX2-1, SFTA3	Microsatellite (inframe_insertion)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1320987	NM_001079668.3(NKX2-1):c.809G>A (p.Gly270Glu)	NKX2-1, SFTA3 (G240E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2412883	NM_001079668.3(NKX2-1):c.757A>C (p.Lys253Gln)	NKX2-1, SFTA3 (K223Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1189930	NM_001079668.3(NKX2-1):c.754_755insT (p.Asp252fs)	NKX2-1, SFTA3 (D222fs +1 more)	Insertion (frameshift variant)	not provided	GPathogenic
Select item 393279	NM_001079668.3(NKX2-1):c.728G>A (p.Arg243His)	NKX2-1, SFTA3 (R243H +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1204589	NM_001079668.3(NKX2-1):c.727C>T (p.Arg243Cys)	NKX2-1, SFTA3 (R213C +1 more)	Single nucleotide variant (missense variant)	Brain-lung-thyroid syndrome +1 more	GPathogenic/Likely pathogenic
Select item 8974	NM_001079668.3(NKX2-1):c.713G>T (p.Trp238Leu)	NKX2-1, SFTA3 (W238L +1 more)	Single nucleotide variant (missense variant)	Brain-lung-thyroid syndrome +1 more	GPathogenic/Likely pathogenic
Select item 504417	NM_001079668.3(NKX2-1):c.664G>T (p.Glu222Ter)	NKX2-1, SFTA3 (E222* +1 more)	Single nucleotide variant (nonsense)	Brain-lung-thyroid syndrome +2 more	GPathogenic/Likely pathogenic
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 620408	NM_001079668.3(NKX2-1):c.645C>A (p.Tyr215Ter)	NKX2-1, SFTA3 (Y215* +1 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 280220	NM_001079668.3(NKX2-1):c.637C>T (p.Gln213Ter)	SFTA3, NKX2-1 (Q213* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
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 1712809	NM_001079668.3(NKX2-1):c.612C>A (p.Tyr204Ter)	NKX2-1, SFTA3 (Y174* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1483467	NM_001079668.3(NKX2-1):c.606G>C (p.Gln202His)	NKX2-1, SFTA3 (Q202H +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 816951	NM_001079668.3(NKX2-1):c.596C>A (p.Ser199Ter)	SFTA3, NKX2-1 (S169* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1318594	NM_001079668.3(NKX2-1):c.589C>T (p.Leu197Phe)	NKX2-1, SFTA3 (L167F +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 1700896	NM_001079668.3(NKX2-1):c.532G>T (p.Asp178Tyr)	NKX2-1, SFTA3 (D148Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 217884	NM_001079668.3(NKX2-1):c.524C>A (p.Ser175Ter)	NKX2-1, SFTA3 (S175* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 280635	NM_001079668.3(NKX2-1):c.512del (p.Gly171fs)	NKX2-1, SFTA3 (G171fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1321041	NM_001079668.3(NKX2-1):c.464-64C>T	NKX2-1, SFTA3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1219787	NM_001079668.3(NKX2-1):c.464-306G>A	NKX2-1, SFTA3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1216576	NM_001079668.3(NKX2-1):c.463+278G>A	NKX2-1, SFTA3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2444747	NM_001079668.3(NKX2-1):c.351C>A (p.Cys117Ter)	SFTA3, NKX2-1 (C117* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1722935	NM_001079668.3(NKX2-1):c.326C>A (p.Ser109Ter)	NKX2-1, SFTA3 (S109* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1321124	NM_001079668.3(NKX2-1):c.316C>T (p.Pro106Ser)	NKX2-1, SFTA3 (P106S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 504199	NM_001079668.3(NKX2-1):c.266_269delinsCAC (p.Gly89fs)	NKX2-1, SFTA3 (G59fs +1 more)	Indel (frameshift variant)	not provided	GPathogenic
Select item 1186928	NM_001079668.3(NKX2-1):c.78-48C>T	NKX2-1, NKX2-1-AS1 +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign

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Items: 46