ClinVar for Gene (Select 7270) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3329928	NM_007344.4(TTF1):c.2524A>C (p.Met842Leu)	TTF1 (M327L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3329927	NM_007344.4(TTF1):c.766A>G (p.Thr256Ala)	TTF1 (T256A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3329926	NM_007344.4(TTF1):c.2260C>A (p.Arg754Ser)	TTF1 (R239S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3329925	NM_007344.4(TTF1):c.84A>C (p.Arg28Ser)	TTF1 (R28S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3329924	NM_007344.4(TTF1):c.1682A>G (p.Glu561Gly)	TTF1 (E561G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3329923	NM_007344.4(TTF1):c.1597G>A (p.Ala533Thr)	TTF1 (A18T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3329922	NM_007344.4(TTF1):c.2027A>G (p.Lys676Arg)	TTF1 (K161R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3257020	NM_007344.4(TTF1):c.1252C>A (p.Leu418Ile)	TTF1 (L418I)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 3245294	NC_000009.11:g.(?_131678355)_(140095163_?)dup	HMCN2, IER5L +147 more	Duplication	not provided	GUncertain significance
Select item 3245116	NC_000009.11:g.(?_131346980)_(135942612_?)dup	BARHL1, C9orf50 +62 more	Duplication	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 3238673	GRCh38/hg38 9q34.13-34.3(chr9:137552409-137879159)	LOC124375238, LOC124375239 +569 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238671	GRCh38/hg38 9q34.13-34.3(chr9:137552082-137728529)	GBGT1, GLT6D1 +552 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238668	GRCh38/hg38 9q34.13-34.3(chr9:137552409-138052113)	ABCA2, ABO +572 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238667	GRCh38/hg38 9q34.13-34.3(chr9:137552409-138059181)	LOC130002921, LOC130002922 +572 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238666	GRCh38/hg38 9q34.13-34.3(chr9:136926151-138059181)	LOC121366034, LOC121366035 +572 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238664	GRCh38/hg38 9q34.13-34.3(chr9:137590213-137817525)	SARDH, SEC16A +568 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238663	GRCh38/hg38 9q34.13-34.3(chr9:137590213-138052188)	ABCA2, ABO +572 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3184437	NM_007344.4(TTF1):c.879G>A (p.Met293Ile)	TTF1 (M293I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3184436	NM_007344.4(TTF1):c.865G>A (p.Glu289Lys)	TTF1 (E289K)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3184435	NM_007344.4(TTF1):c.752A>G (p.Gln251Arg)	TTF1 (Q251R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3184434	NM_007344.4(TTF1):c.719C>T (p.Ser240Leu)	TTF1 (S240L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3184433	NM_007344.4(TTF1):c.685C>T (p.Arg229Trp)	TTF1 (R229W)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3184431	NM_007344.4(TTF1):c.553G>A (p.Asp185Asn)	TTF1 (D185N)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3184430	NM_007344.4(TTF1):c.545G>A (p.Arg182Gln)	TTF1 (R182Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3184429	NM_007344.4(TTF1):c.472G>A (p.Ala158Thr)	TTF1 (A158T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3184428	NM_007344.4(TTF1):c.307A>G (p.Thr103Ala)	TTF1 (T103A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3184427	NM_007344.4(TTF1):c.2699A>G (p.Gln900Arg)	TTF1 (Q385R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3184426	NM_007344.4(TTF1):c.2660G>A (p.Cys887Tyr)	TTF1 (C372Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3184425	NM_007344.4(TTF1):c.1997G>C (p.Arg666Pro)	TTF1 (R666P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3184424	NM_007344.4(TTF1):c.1957G>A (p.Val653Met)	TTF1 (V653M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3184422	NM_007344.4(TTF1):c.1774A>G (p.Ile592Val)	TTF1 (I77V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3184421	NM_007344.4(TTF1):c.1592G>A (p.Gly531Asp)	TTF1 (G16D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3184420	NM_007344.4(TTF1):c.1529C>G (p.Thr510Ser)	TTF1 (T510S)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3184419	NM_007344.4(TTF1):c.1475G>A (p.Gly492Asp)	TTF1 (G492D)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GLikely benign
Select item 3184417	NM_007344.4(TTF1):c.1361C>T (p.Ala454Val)	TTF1 (A454V)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3184416	NM_007344.4(TTF1):c.1350C>A (p.His450Gln)	TTF1 (H450Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3184415	NM_007344.4(TTF1):c.1126C>T (p.Leu376Phe)	TTF1 (L376F)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3064708	NM_007344.4(TTF1):c.1987+1G>C	TTF1	Single nucleotide variant (splice donor variant)	Hypothyroidism, congenital, nongoitrous, 2	GUncertain significance
Select item 3063120	GRCh37/hg19 9q34.13(chr9:135056358-135636431)x1	AK8, BARHL1 +6 more	Copy number loss	not specified	GUncertain significance
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	DMAC1, DMRT1 +769 more	Copy number gain	not specified	GPathogenic
Select item 2659657	NM_007344.4(TTF1):c.807T>C (p.Pro269=)	TTF1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2659656	NM_007344.4(TTF1):c.912G>A (p.Gly304=)	TTF1	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 2605313	NM_007344.4(TTF1):c.736G>T (p.Ala246Ser)	TTF1 (A246S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2597441	NM_007344.4(TTF1):c.2138G>A (p.Arg713Gln)	TTF1 (R713Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2593305	NM_007344.4(TTF1):c.1357G>C (p.Glu453Gln)	TTF1 (E453Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2589904	NM_007344.4(TTF1):c.667A>G (p.Lys223Glu)	TTF1 (K223E)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2588116	NM_007344.4(TTF1):c.2024G>A (p.Arg675Gln)	TTF1 (R160Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2568970	NM_007344.4(TTF1):c.2287C>T (p.Arg763Trp)	TTF1 (R248W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2557461	NM_007344.4(TTF1):c.1282A>G (p.Met428Val)	TTF1 (M428V)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2539490	NM_007344.4(TTF1):c.70A>G (p.Ile24Val)	TTF1 (I24V)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2530848	NM_007344.4(TTF1):c.485A>C (p.Lys162Thr)	TTF1 (K162T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2518846	NM_007344.4(TTF1):c.2684G>A (p.Ser895Asn)	TTF1 (S895N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2517544	NM_007344.4(TTF1):c.1184C>T (p.Thr395Met)	TTF1 (T395M)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2513061	NM_007344.4(TTF1):c.1360G>A (p.Ala454Thr)	TTF1 (A454T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2508224	NM_007344.4(TTF1):c.2643C>A (p.Ser881Arg)	TTF1 (S881R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2485757	NM_007344.4(TTF1):c.969A>G (p.Ile323Met)	TTF1 (I323M)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2478107	NM_007344.4(TTF1):c.2297T>C (p.Val766Ala)	TTF1 (V251A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2474207	NM_007344.4(TTF1):c.2449A>C (p.Lys817Gln)	TTF1 (K817Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2472221	NM_007344.4(TTF1):c.2707T>G (p.Trp903Gly)	TTF1 (W903G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2467353	NM_007344.4(TTF1):c.2704C>T (p.Arg902Trp)	TTF1 (R902W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2463596	NM_007344.4(TTF1):c.976C>T (p.Pro326Ser)	TTF1 (P326S)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2460436	NM_007344.4(TTF1):c.1808T>C (p.Ile603Thr)	TTF1 (I88T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2457241	NM_007344.4(TTF1):c.1211G>T (p.Gly404Val)	TTF1 (G404V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2426262	NC_000009.11:g.(?_131087402)_(141016451_?)dup	ABCA2, ABL1 +187 more	Duplication	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome	GUncertain significance
Select item 2425935	NC_000009.11:g.(?_131857676)_(135942612_?)dup	ABL1, AIF1L +45 more	Duplication	not provided	GUncertain significance
Select item 2425485	NC_000009.11:g.(?_133884602)_(135942612_?)dup	AIF1L, AK8 +21 more	Duplication	not provided	GUncertain significance
Select item 2422970	NC_000009.11:g.(?_135139626)_(140034216_?)dup	ABCA2, ABO +100 more	Duplication	Developmental and epileptic encephalopathy, 14 +4 more	GUncertain significance
Select item 2409180	NM_007344.4(TTF1):c.1072C>T (p.Pro358Ser)	TTF1 (P358S)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2407026	NM_007344.4(TTF1):c.2044G>A (p.Glu682Lys)	TTF1 (E682K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2391994	NM_007344.4(TTF1):c.739G>A (p.Gly247Arg)	TTF1 (G247R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2346494	NM_007344.4(TTF1):c.1567C>T (p.Arg523Trp)	TTF1 (R523W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2346105	NM_007344.4(TTF1):c.194C>T (p.Ser65Phe)	TTF1 (S65F)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2342564	NM_007344.4(TTF1):c.448A>G (p.Lys150Glu)	TTF1 (K150E)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2341482	NM_007344.4(TTF1):c.1100T>C (p.Val367Ala)	TTF1 (V367A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2330198	NM_007344.4(TTF1):c.319G>T (p.Val107Leu)	TTF1 (V107L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2319281	NM_007344.4(TTF1):c.2557C>T (p.Pro853Ser)	TTF1 (P853S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2317943	NM_007344.4(TTF1):c.1790C>G (p.Ala597Gly)	TTF1 (A597G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2312407	NM_007344.4(TTF1):c.1047G>C (p.Met349Ile)	TTF1 (M349I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2306526	NM_007344.4(TTF1):c.748A>C (p.Met250Leu)	TTF1 (M250L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2304939	NM_007344.4(TTF1):c.1676G>A (p.Gly559Asp)	TTF1 (G44D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2304417	NM_007344.4(TTF1):c.1148A>G (p.Asn383Ser)	TTF1 (N383S)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2300531	NM_007344.4(TTF1):c.1259A>G (p.Asp420Gly)	TTF1 (D420G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2291844	NM_007344.4(TTF1):c.2408A>C (p.Lys803Thr)	TTF1 (K288T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2278708	NM_007344.4(TTF1):c.2449A>G (p.Lys817Glu)	TTF1 (K817E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2266904	NM_007344.4(TTF1):c.2329G>A (p.Val777Met)	TTF1 (V777M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2257623	NM_007344.4(TTF1):c.1065T>G (p.Ser355Arg)	TTF1 (S355R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2255199	NM_007344.4(TTF1):c.2489C>T (p.Thr830Met)	TTF1 (T830M +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2241584	NM_007344.4(TTF1):c.656C>A (p.Ser219Tyr)	TTF1 (S219Y)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2240010	NM_007344.4(TTF1):c.1586C>A (p.Ala529Glu)	TTF1 (A14E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2238508	NM_007344.4(TTF1):c.1844A>G (p.Asn615Ser)	TTF1 (N615S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2229827	NM_007344.4(TTF1):c.2384T>C (p.Val795Ala)	TTF1 (V280A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2227988	NM_007344.4(TTF1):c.1066G>A (p.Ala356Thr)	TTF1 (A356T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2213349	NM_007344.4(TTF1):c.1469A>G (p.Asp490Gly)	TTF1 (D490G)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2208773	NM_007344.4(TTF1):c.1943G>A (p.Arg648Gln)	TTF1 (R133Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1527491	GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389)	ANKRD18A, ANKRD18B +768 more	Copy number gain	not specified	GPathogenic
Select item 1299161	NM_007344.4(TTF1):c.2652_2658del (p.Gln884fs)	TTF1 (Q369fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 779100	NM_007344.4(TTF1):c.940G>C (p.Val314Leu)	TTF1 (V314L)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 779099	NM_007344.4(TTF1):c.1113A>G (p.Glu371=)	TTF1	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 776456	NM_007344.4(TTF1):c.1708G>C (p.Asp570His)	TTF1 (D570H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 741994	NM_007344.4(TTF1):c.735G>A (p.Glu245=)	TTF1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign

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