"Molecular Diagnostics Lab, Nemours Children's Health, Delaware"[submi - ClinVar

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Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 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 689773	NM_001079668.3(NKX2-1):c.872C>G (p.Pro291Arg)	NKX2-1, SFTA3 (P261R +1 more)	Single nucleotide variant (missense variant)	Benign hereditary chorea +1 more	GLikely pathogenic
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 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 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 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 8974	NM_001079668.3(NKX2-1):c.713G>T (p.Trp238Leu)	NKX2-1, SFTA3 (W238L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
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 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 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 504417	NM_001079668.3(NKX2-1):c.664G>T (p.Glu222Ter)	NKX2-1, SFTA3 (E222* +1 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely 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 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 1801521	NM_001079668.3(NKX2-1):c.626G>C (p.Arg209Pro)	NKX2-1, SFTA3 (R179P +1 more)	Single nucleotide variant (missense variant)	Hereditary ataxia +2 more	GPathogenic/Likely 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 521215	NM_001079668.3(NKX2-1):c.617T>A (p.Leu206Gln)	NKX2-1, SFTA3 (L176Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	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 8979	NM_001079668.3(NKX2-1):c.613G>T (p.Glu205Ter)	NKX2-1, SFTA3 (E175* +1 more)	Single nucleotide variant (nonsense)	Benign hereditary chorea +3 more	GPathogenic/Likely pathogenic
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 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 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 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 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 2013969	NM_001079668.3(NKX2-1):c.474del (p.Phe158fs)	NKX2-1, SFTA3 (F158fs +1 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 8982	NM_001079668.3(NKX2-1):c.464-2A>G	NKX2-1, SFTA3	Single nucleotide variant (splice acceptor variant)	Brain-lung-thyroid syndrome	GPathogenic
Select item 2444045	NM_001079668.3(NKX2-1):c.464-9C>A	NKX2-1, SFTA3	Single nucleotide variant (intron variant)	not provided +1 more	GPathogenic/Likely pathogenic
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 870856	NM_001079668.3(NKX2-1):c.432C>A (p.Tyr144Ter)	NKX2-1, SFTA3 (Y144* +1 more)	Single nucleotide variant (nonsense)	Brain-lung-thyroid syndrome +1 more	GPathogenic/Likely 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 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 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 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 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 807109	NM_001079668.3(NKX2-1):c.344del (p.Gly115fs)	NKX2-1, SFTA3 (G85fs +1 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely 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 2506943	NM_001079668.3(NKX2-1):c.196del (p.Ala66fs)	NKX2-1, SFTA3 (A36fs +1 more)	Deletion (frameshift variant)	Brain-lung-thyroid syndrome	GPathogenic

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Items: 43