ClinVar for MedGen (Select 98278) - ClinVar

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Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 2444325	NM_001079668.3(NKX2-1):c.535del (p.Asp178_Val179insTer)	NKX2-1, SFTA3	Deletion (nonsense)	Benign hereditary chorea	GLikely pathogenic
Select item 1685985	NM_001079668.3(NKX2-1):c.533del (p.Asp178fs)	NKX2-1, SFTA3 (D148fs +1 more)	Deletion (frameshift variant)	Benign hereditary chorea	GPathogenic
Select item 1685383	NM_001079668.3(NKX2-1):c.713G>C (p.Trp238Ser)	SFTA3, NKX2-1 (W208S +1 more)	Single nucleotide variant (missense variant)	Benign hereditary chorea	GLikely pathogenic
Select item 1417048	NM_001079668.3(NKX2-1):c.619G>T (p.Glu207Ter)	NKX2-1, SFTA3 (E177* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1299599	NM_001079668.3(NKX2-1):c.332C>T (p.Ser111Phe)	NKX2-1, SFTA3 (S111F +1 more)	Single nucleotide variant (missense variant)	Benign hereditary chorea	GUncertain significance
Select item 985595	NM_001079668.3(NKX2-1):c.623G>C (p.Arg208Pro)	NKX2-1, SFTA3 (R178P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
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 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 807451	NM_001079668.3(NKX2-1):c.303_319del (p.Ala103fs)	NKX2-1, SFTA3 (A103fs +1 more)	Deletion (frameshift variant)	Benign hereditary chorea	GLikely pathogenic
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 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 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 521085	NM_001079668.3(NKX2-1):c.646del (p.Leu216fs)	NKX2-1, SFTA3 (L186fs +1 more)	Deletion (frameshift variant)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
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 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 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)	NKX2-1-related condition +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)	not provided +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)	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 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 8980	NM_001079668.3(NKX2-1):c.745C>T (p.Gln249Ter)	NKX2-1, SFTA3 (Q249* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
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 8978	NM_001079668.3(NKX2-1):c.464-2A>T	NKX2-1, SFTA3	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 8975	NM_001079668.3(NKX2-1):c.908del (p.Gly303fs)	NKX2-1, SFTA3 (G273fs +1 more)	Deletion (frameshift variant)	Benign hereditary chorea	GPathogenic
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 8973	NM_001079668.3(NKX2-1):c.727C>A (p.Arg243Ser)	NKX2-1, SFTA3 (R243S +1 more)	Single nucleotide variant (missense variant)	Benign hereditary chorea	GPathogenic
Select item 8972	NC_000014.8:g.(36407609_36463186)_(37638963_37670256)del	MBIP, MIPOL1 +6 more	Deletion	Benign hereditary chorea	GPathogenic

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Items: 57