ClinVar for MedGen (Select 369694) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 1 to 100 of 105

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 2443063	NM_001079668.3(NKX2-1):c.890G>A (p.Gly297Asp)	NKX2-1, SFTA3 (G267D +1 more)	Single nucleotide variant (missense variant)	Brain-lung-thyroid syndrome	GUncertain significance
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 1879276	NM_001079668.3(NKX2-1):c.250C>T (p.Gln84Ter)	NKX2-1, SFTA3 (Q54* +1 more)	Single nucleotide variant (nonsense)	Brain-lung-thyroid syndrome +1 more	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)	Brain-lung-thyroid syndrome +2 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 1676204	NC_000014.8:g.(21162263_36986276)_(36987308_50713602)del	DHRS1, NYNRIN +190 more	Deletion	Brain-lung-thyroid syndrome	GPathogenic
Select item 1333486	NM_001079668.3(NKX2-1):c.679dup (p.Met227fs)	NKX2-1, SFTA3 (M197fs +1 more)	Duplication (frameshift variant)	Brain-lung-thyroid syndrome	GLikely pathogenic
Select item 1326865	NM_001079668.3(NKX2-1):c.338dup (p.Tyr116fs)	NKX2-1, SFTA3 (Y116fs +1 more)	Duplication (frameshift variant)	Brain-lung-thyroid syndrome	GPathogenic
Select item 1204589	NM_001079668.3(NKX2-1):c.727C>T (p.Arg243Cys)	NKX2-1, SFTA3 (R213C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1130737	NM_001079668.3(NKX2-1):c.1054G>A (p.Gly352Ser)	NKX2-1, SFTA3 (G322S +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 992992	NM_001079668.3(NKX2-1):c.583C>T (p.Arg195Trp)	NKX2-1, SFTA3 (R165W +1 more)	Single nucleotide variant (missense variant)	Brain-lung-thyroid syndrome	GLikely pathogenic
Select item 985241	NM_001079668.3(NKX2-1):c.695C>T (p.Pro232Leu)	NKX2-1, SFTA3 (P202L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GPathogenic/Likely pathogenic
Select item 932917	NM_001079668.3(NKX2-1):c.278_306del (p.Ala93fs)	NKX2-1, SFTA3 (A63fs +1 more)	Deletion (frameshift variant)	Brain-lung-thyroid syndrome	GPathogenic
Select item 883893	NM_001079668.3(NKX2-1):c.786C>T (p.Asp262=)	NKX2-1, SFTA3	Single nucleotide variant (synonymous 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 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 883117	NM_001079668.3(NKX2-1):c.911C>A (p.Ala304Asp)	SFTA3, NKX2-1 (A274D +1 more)	Single nucleotide variant (missense variant)	Benign hereditary chorea +1 more	GUncertain significance
Select item 883116	NM_001079668.3(NKX2-1):c.918G>T (p.Ala306=)	NKX2-1, SFTA3	Single nucleotide variant (synonymous variant)	Benign hereditary chorea +1 more	GUncertain significance
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 870856	NM_001079668.3(NKX2-1):c.432C>A (p.Tyr144Ter)	SFTA3, NKX2-1 (Y144* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
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 803018	NM_001079668.3(NKX2-1):c.78-151A>G	NKX2-1, NKX2-1-AS1 +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	Brain-lung-thyroid syndrome	GLikely benign
Select item 803017	NM_001079668.3(NKX2-1):c.267dup (p.His90fs)	NKX2-1, SFTA3 (H60fs +1 more)	Duplication (frameshift variant)	Brain-lung-thyroid syndrome +1 more	GPathogenic
Select item 803016	NM_001079668.3(NKX2-1):c.714G>A (p.Trp238Ter)	NKX2-1, SFTA3 (W238* +1 more)	Single nucleotide variant (nonsense)	Brain-lung-thyroid syndrome +1 more	GPathogenic/Likely pathogenic
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 695624	NM_001079668.3(NKX2-1):c.190C>A (p.Leu64Ile)	NKX2-1, SFTA3 (L34I +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 695342	NM_001079668.3(NKX2-1):c.796GGCGGGGGC[3] (p.Gly269_Gly271dup)	NKX2-1, SFTA3	Microsatellite (inframe_insertion)	NKX2-1-related disorder +2 more	GConflicting classifications of pathogenicity
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 689466	NM_001079668.3(NKX2-1):c.1143CTC[1] (p.Ser383del)	NKX2-1, SFTA3 (S383del +1 more)	Microsatellite (inframe_deletion)	not provided +1 more	GUncertain significance
Select item 638002	NM_001079668.3(NKX2-1):c.338_342del (p.Val113fs)	NKX2-1, SFTA3 (V83fs +1 more)	Deletion (frameshift variant)	Brain-lung-thyroid syndrome	GLikely pathogenic
Select item 635563	NM_001079668.3(NKX2-1):c.935dup (p.Gln313fs)	NKX2-1, SFTA3 (Q313fs +1 more)	Duplication (frameshift variant)	Brain-lung-thyroid syndrome	GLikely pathogenic
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 635555	NM_001079668.3(NKX2-1):c.698C>T (p.Thr233Met)	NKX2-1, SFTA3 (T233M +1 more)	Single nucleotide variant (missense variant)	Brain-lung-thyroid syndrome	GUncertain significance
Select item 561065	NM_001079668.3(NKX2-1):c.645C>G (p.Tyr215Ter)	NKX2-1, SFTA3 (Y215* +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 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 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 436016	NM_001079668.3(NKX2-1):c.635A>C (p.Gln212Pro)	NKX2-1, SFTA3 (Q212P +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 374740	NM_001079668.3(NKX2-1):c.872C>T (p.Pro291Leu)	NKX2-1, SFTA3 (P291L +1 more)	Single nucleotide variant (missense variant)	Brain-lung-thyroid syndrome +1 more	GConflicting classifications of pathogenicity
Select item 313149	NM_001079668.3(NKX2-1):c.-85G>T	NKX2-1, NKX2-1-AS1	Single nucleotide variant (5 prime UTR variant)	not provided +2 more	GBenign
Select item 313148	NM_001079668.3(NKX2-1):c.-71C>A	NKX2-1, NKX2-1-AS1	Single nucleotide variant (5 prime UTR variant)	Brain-lung-thyroid syndrome +1 more	GUncertain significance
Select item 313147	NM_001079668.3(NKX2-1):c.29G>A (p.Arg10Gln)	NKX2-1, NKX2-1-AS1 (R10Q)	Single nucleotide variant (missense variant)	Brain-lung-thyroid syndrome +2 more	GBenign/Likely benign
Select item 313146	NM_001079668.3(NKX2-1):c.201G>A (p.Pro67=)	NKX2-1, SFTA3	Single nucleotide variant (synonymous variant)	Benign hereditary chorea +1 more	GUncertain significance
Select item 313145	NM_001079668.3(NKX2-1):c.435C>G (p.Gly145=)	NKX2-1, SFTA3	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 313144	NM_001079668.3(NKX2-1):c.535G>T (p.Val179Leu)	SFTA3, NKX2-1 (V179L +1 more)	Single nucleotide variant (missense variant)	Benign hereditary chorea +1 more	GBenign
Select item 313143	NM_001079668.3(NKX2-1):c.657G>A (p.Pro219=)	NKX2-1, SFTA3	Single nucleotide variant (synonymous variant)	Benign hereditary chorea +2 more	GLikely benign
Select item 313142	NM_001079668.3(NKX2-1):c.816C>T (p.Thr272=)	NKX2-1, SFTA3	Single nucleotide variant (synonymous variant)	Brain-lung-thyroid syndrome +1 more	GUncertain significance
Select item 313141	NM_001079668.3(NKX2-1):c.925G>T (p.Ala309Ser)	NKX2-1, SFTA3 (A309S +1 more)	Single nucleotide variant (missense variant)	Brain-lung-thyroid syndrome +1 more	GUncertain significance
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 specified +3 more	GBenign/Likely benign
Select item 313138	NM_001079668.3(NKX2-1):c.1200C>T (p.Thr400=)	NKX2-1, SFTA3	Single nucleotide variant (synonymous variant)	Brain-lung-thyroid syndrome +2 more	GConflicting classifications of pathogenicity
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 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 313134	NM_001079668.3(NKX2-1):c.*209T>A	NKX2-1, SFTA3	Single nucleotide variant (3 prime UTR variant)	Benign hereditary chorea +2 more	GBenign
Select item 313133	NM_001079668.3(NKX2-1):c.*210T>A	NKX2-1, SFTA3	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 313132	NM_001079668.3(NKX2-1):c.*210dup	NKX2-1, SFTA3	Duplication (3 prime UTR variant)	Benign hereditary chorea +2 more	GConflicting classifications of pathogenicity
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 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 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 313128	NM_001079668.3(NKX2-1):c.*460del	NKX2-1, SFTA3	Deletion (3 prime UTR variant)	Benign hereditary chorea +2 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 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 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 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 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 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 217884	NM_001079668.3(NKX2-1):c.524C>A (p.Ser175Ter)	NKX2-1, SFTA3 (S175* +1 more)	Single nucleotide variant (nonsense)	See cases +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 8981	NM_001079668.3(NKX2-1):c.344dup (p.Tyr116fs)	NKX2-1, SFTA3 (Y116fs +1 more)	Duplication (frameshift variant)	Brain-lung-thyroid syndrome	GPathogenic

<< First< Prev

Page of 2