ClinVar for MedGen (Select 369694) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25069431.	NM_001079668.3(NKX2-1):c.196del (p.Ala66fs) GRCh37: Chr14:36988457 GRCh38: Chr14:36519252	NKX2-1, SFTA3	A36fs, A66fs	Brain-lung-thyroid syndrome	Pathogenic (Mar 10, 2020)	criteria provided, single submitter
Select item 25069422.	NM_001079668.3(NKX2-1):c.336_345del (p.Val113fs) GRCh37: Chr14:36988308-36988317 GRCh38: Chr14:36519103-36519112	NKX2-1, SFTA3	V113fs, V83fs	Brain-lung-thyroid syndrome	Pathogenic (Mar 10, 2020)	criteria provided, single submitter
Select item 25069403.	NM_001079668.3(NKX2-1):c.481_485del (p.Pro161fs) GRCh37: Chr14:36987204-36987208 GRCh38: Chr14:36517999-36518003	NKX2-1, SFTA3	P131fs, P161fs	Brain-lung-thyroid syndrome	Likely pathogenic (Dec 27, 2019)	criteria provided, single submitter
Select item 25069394.	NM_001079668.3(NKX2-1):c.647del (p.Leu216fs) GRCh37: Chr14:36987042 GRCh38: Chr14:36517837	NKX2-1, SFTA3	L186fs, L216fs	Brain-lung-thyroid syndrome	Pathogenic (Feb 25, 2020)	criteria provided, single submitter
Select item 25069385.	NM_001079668.3(NKX2-1):c.905del (p.Ala302fs) GRCh37: Chr14:36986784 GRCh38: Chr14:36517579	NKX2-1, SFTA3	A272fs, A302fs	Brain-lung-thyroid syndrome	Likely pathogenic (Mar 20, 2020)	criteria provided, single submitter
Select item 25069376.	NM_001079668.3(NKX2-1):c.423del (p.Gly142fs) GRCh37: Chr14:36988230 GRCh38: Chr14:36519025	NKX2-1, SFTA3	G112fs, G142fs	Brain-lung-thyroid syndrome	Pathogenic (Mar 20, 2020)	criteria provided, single submitter
Select item 25069357.	NM_001079668.3(NKX2-1):c.605A>T (p.Gln202Leu) GRCh37: Chr14:36987084 GRCh38: Chr14:36517879	NKX2-1, SFTA3	Q172L, Q202L	Brain-lung-thyroid syndrome	Likely pathogenic (Mar 9, 2020)	criteria provided, single submitter
Select item 25069348.	NM_001079668.3(NKX2-1):c.622C>T (p.Arg208Ter) GRCh37: Chr14:36987067 GRCh38: Chr14:36517862	NKX2-1, SFTA3	R178, R208	Brain-lung-thyroid syndrome	Pathogenic (Mar 6, 2020)	criteria provided, single submitter
Select item 25069339.	NM_001079668.3(NKX2-1):c.711C>G (p.Ile237Met) GRCh37: Chr14:36986978 GRCh38: Chr14:36517773	NKX2-1, SFTA3	I207M, I237M	Brain-lung-thyroid syndrome	Pathogenic (Mar 2, 2020)	criteria provided, single submitter
Select item 250693210.	NM_001079668.3(NKX2-1):c.724C>G (p.His242Asp) GRCh37: Chr14:36986965 GRCh38: Chr14:36517760	NKX2-1, SFTA3	H212D, H242D	Brain-lung-thyroid syndrome	Likely pathogenic (Feb 28, 2020)	criteria provided, single submitter
Select item 250693111.	NM_001079668.3(NKX2-1):c.701A>T (p.Gln234Leu) GRCh37: Chr14:36986988 GRCh38: Chr14:36517783	NKX2-1, SFTA3	Q204L, Q234L	Brain-lung-thyroid syndrome	Likely pathogenic (Feb 28, 2020)	criteria provided, single submitter
Select item 250693012.	NM_001079668.3(NKX2-1):c.348C>G (p.Tyr116Ter) GRCh37: Chr14:36988305 GRCh38: Chr14:36519100	NKX2-1, SFTA3	Y116, Y86	Brain-lung-thyroid syndrome	Likely pathogenic (Mar 9, 2020)	criteria provided, single submitter
Select item 250692913.	NM_001079668.3(NKX2-1):c.704T>C (p.Val235Ala) GRCh37: Chr14:36986985 GRCh38: Chr14:36517780	NKX2-1, SFTA3	V205A, V235A	Brain-lung-thyroid syndrome	Likely pathogenic (Feb 11, 2020)	criteria provided, single submitter
Select item 250692814.	NM_001079668.3(NKX2-1):c.650C>A (p.Ser217Ter) GRCh37: Chr14:36987039 GRCh38: Chr14:36517834	NKX2-1, SFTA3	S187, S217	Brain-lung-thyroid syndrome	Pathogenic (Feb 26, 2020)	criteria provided, single submitter
Select item 250692715.	NM_001079668.3(NKX2-1):c.728G>C (p.Arg243Pro) GRCh37: Chr14:36986961 GRCh38: Chr14:36517756	NKX2-1, SFTA3	R213P, R243P	Brain-lung-thyroid syndrome	Likely pathogenic (Feb 25, 2020)	criteria provided, single submitter
Select item 250692616.	NM_001079668.3(NKX2-1):c.822C>A (p.Cys274Ter) GRCh37: Chr14:36986867 GRCh38: Chr14:36517662	NKX2-1, SFTA3	C244, C274	Brain-lung-thyroid syndrome	Likely pathogenic (Feb 11, 2020)	criteria provided, single submitter
Select item 250692517.	NM_001079668.3(NKX2-1):c.1173C>T (p.Ser391=) GRCh37: Chr14:36986516 GRCh38: Chr14:36517311	NKX2-1, SFTA3		Brain-lung-thyroid syndrome	Uncertain significance (Jan 27, 2020)	criteria provided, single submitter
Select item 250691818.	NM_001079668.3(NKX2-1):c.1045dup (p.His349fs) GRCh37: Chr14:36986643-36986644 GRCh38: Chr14:36517438-36517439	NKX2-1, SFTA3	H319fs, H349fs	Brain-lung-thyroid syndrome	Likely pathogenic (Mar 11, 2020)	criteria provided, single submitter
Select item 250691719.	NM_001079668.3(NKX2-1):c.583del (p.Arg195fs) GRCh37: Chr14:36987106 GRCh38: Chr14:36517901	NKX2-1, SFTA3	R165fs, R195fs	Brain-lung-thyroid syndrome	Pathogenic (Mar 11, 2020)	criteria provided, single submitter
Select item 250691620.	NM_001079668.3(NKX2-1):c.1040del (p.Pro347fs) GRCh37: Chr14:36986649 GRCh38: Chr14:36517444	NKX2-1, SFTA3	P317fs, P347fs	Brain-lung-thyroid syndrome	Likely pathogenic (Mar 11, 2020)	criteria provided, single submitter
Select item 250691521.	NM_001079668.3(NKX2-1):c.552_556del (p.Pro185fs) GRCh37: Chr14:36987133-36987137 GRCh38: Chr14:36517928-36517932	NKX2-1, SFTA3	P155fs, P185fs	Brain-lung-thyroid syndrome	Likely pathogenic (Mar 10, 2020)	criteria provided, single submitter
Select item 250691122.	NM_001079668.3(NKX2-1):c.1092_1108del (p.Ser366fs) GRCh37: Chr14:36986581-36986597 GRCh38: Chr14:36517376-36517392	NKX2-1, SFTA3	S336fs, S366fs	Brain-lung-thyroid syndrome	Likely pathogenic (Mar 10, 2020)	criteria provided, single submitter
Select item 250690723.	NM_001079668.3(NKX2-1):c.216del (p.Arg72fs) GRCh37: Chr14:36988437 GRCh38: Chr14:36519232	NKX2-1, SFTA3	R42fs, R72fs	Brain-lung-thyroid syndrome	Pathogenic (Mar 10, 2020)	criteria provided, single submitter
Select item 250689924.	NM_001079668.3(NKX2-1):c.611_614delinsT (p.Tyr204_Glu205delinsLeu) GRCh37: Chr14:36987075-36987078 GRCh38: Chr14:36517870-36517873	NKX2-1, SFTA3		Brain-lung-thyroid syndrome	Likely pathogenic (Mar 10, 2020)	criteria provided, single submitter
Select item 250688425.	NM_001079668.3(NKX2-1):c.348C>A (p.Tyr116Ter) GRCh37: Chr14:36988305 GRCh38: Chr14:36519100	NKX2-1, SFTA3	Y116, Y86	Brain-lung-thyroid syndrome	Likely pathogenic (Mar 9, 2020)	criteria provided, single submitter
Select item 250688026.	NM_001079668.3(NKX2-1):c.997del (p.Ala333fs) GRCh37: Chr14:36986692 GRCh38: Chr14:36517487	NKX2-1, SFTA3	A303fs, A333fs	Brain-lung-thyroid syndrome	Likely pathogenic (Mar 11, 2020)	criteria provided, single submitter
Select item 250687927.	NM_001079668.3(NKX2-1):c.1157_1163dup (p.Thr389fs) GRCh37: Chr14:36986525-36986526 GRCh38: Chr14:36517320-36517321	NKX2-1, SFTA3	T359fs, T389fs	Brain-lung-thyroid syndrome	Likely pathogenic (Mar 11, 2020)	criteria provided, single submitter
Select item 250687828.	NM_001079668.3(NKX2-1):c.377_387del (p.Glu126fs) GRCh37: Chr14:36988266-36988276 GRCh38: Chr14:36519061-36519071	NKX2-1, SFTA3	E126fs, E96fs	Brain-lung-thyroid syndrome	Likely pathogenic (Mar 11, 2020)	criteria provided, single submitter
Select item 249953029.	NM_001079668.3(NKX2-1):c.1051_1063del (p.Pro351fs) GRCh37: Chr14:36986626-36986638 GRCh38: Chr14:36517421-36517433	SFTA3, NKX2-1	P321fs, P351fs	Brain-lung-thyroid syndrome	Likely pathogenic (Apr 5, 2023)	criteria provided, single submitter
Select item 244404530.	NM_001079668.3(NKX2-1):c.464-9C>A GRCh37: Chr14:36987234 GRCh38: Chr14:36518029	NKX2-1, SFTA3		Brain-lung-thyroid syndrome	Pathogenic/Likely pathogenic (Feb 23, 2023)	criteria provided, multiple submitters, no conflicts
Select item 244306331.	NM_001079668.3(NKX2-1):c.890G>A (p.Gly297Asp) GRCh37: Chr14:36986799 GRCh38: Chr14:36517594	NKX2-1, SFTA3	G267D, G297D	Brain-lung-thyroid syndrome	Uncertain significance (Oct 28, 2022)	criteria provided, single submitter
Select item 201396932.	NM_001079668.3(NKX2-1):c.474del (p.Phe158fs) GRCh37: Chr14:36987215 GRCh38: Chr14:36518010	NKX2-1, SFTA3	F158fs, F128fs	not provided, Brain-lung-thyroid syndrome	Pathogenic (Jul 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 187927633.	NM_001079668.3(NKX2-1):c.250C>T (p.Gln84Ter) GRCh37: Chr14:36988403 GRCh38: Chr14:36519198	NKX2-1, SFTA3	Q54, Q84	not provided, Brain-lung-thyroid syndrome	Pathogenic (Jul 17, 2023)	criteria provided, multiple submitters, no conflicts
Select item 180152134.	NM_001079668.3(NKX2-1):c.626G>C (p.Arg209Pro) GRCh37: Chr14:36987063 GRCh38: Chr14:36517858	NKX2-1, SFTA3	R179P, R209P	Hereditary ataxia, Chorea, Brain-lung-thyroid syndrome	Pathogenic/Likely pathogenic (Dec 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 171280935.	NM_001079668.3(NKX2-1):c.612C>A (p.Tyr204Ter) GRCh37: Chr14:36987077 GRCh38: Chr14:36517872	NKX2-1, SFTA3	Y174, Y204	not provided, Brain-lung-thyroid syndrome	Pathogenic (Feb 22, 2023)	criteria provided, multiple submitters, no conflicts
Select item 167620436.	NC_000014.8:g.(21162263_36986276)_(36987308_50713602)del GRCh37: Chr14:21162263-50713602	DHRS1, NYNRIN, PSMA6, PSMB11, PSMB5, PPP1R3E, PPP2R3C, PRKD1, PRMT5, OR10G2, PRORP, PRPF39, PSME1, OR10G3, OR4E2, PNN, POLE2, EMC9, DHRS4L1, DHRS2, DHRS4, DHRS4L2, DNAAF2, DTD2, EAPP, EDDM3A, EDDM3B, EFS, EGLN3, ABHD4, ACIN1, ADCY4, AJUBA, AKAP6, ANG, AP1G2, AP4S1, ARF6, ARHGAP5, ARHGEF40, BAZ1A, BCL2L2, BCL2L2-PABPN1, BRMS1L, C14orf119, C14orf28, C14orf93, CARMIL3, CBLN3, CDH24, CEBPE, CFL2, CHD8, CHMP4A, CIDEB, CLEC14A, CMA1, CMTM5, COCH, CPNE6, CTSG, DAD1, DCAF11, FAM177A1, FANCM, FBXO33, FITM1, FKBP3, FOXA1, FOXG1, FSCB, G2E3, GEMIN2, GMPR2, GPR33, GZMB, GZMH, HAUS4, HEATR5A, HECTD1, HNRNPC, HOMEZ, IL25, INSM2, IPO4, IRF9, JPH4, KHNYN, KLHDC1, KLHDC2, KLHL28, L2HGDH, LINC01588, LINC01599, LRFN5, LRP10, LRR1, LTB4R, LTB4R2, MBIP, MDGA2, MDP1, METTL17, METTL3, MGAT2, MIA2, MIPOL1, MIR208A, MIR208B, MIS18BP1, MMP14, MRPL52, MYH6, MYH7, NDRG2, NEDD8, NEDD8-MDP1, NEMF, NFATC4, NFKBIA, NGDN, NKX2-1, NKX2-8, NOP9, NOVA1, NPAS3, NRL, NUBPL, OR5AU1, OXA1L, PABPN1, PAX9, PCK2, PSME2, PTCSC3, RAB2B, RABGGTA, RALGAPA1, RBM23, REC8, REM2, RIPK3, RN7SL1, RN7SL2, RN7SL3, RNASE1, RNASE13, RNASE2, RNASE3, RNASE4, RNASE6, RNASE7, RNASE8, RNF212B, RNF31, RPGRIP1, RPL10L, RPL36AL, RPS29, SALL2, SCFD1, SDR39U1, SEC23A, SFTA3, SLC22A17, SLC25A21, SLC39A2, SLC7A7, SLC7A8, SNX6, SOS2, SPTSSA, SRP54, SSTR1, STRN3, STXBP6, SUPT16H, TGM1, THTPA, TINF2, TM9SF1, TMEM253, TOGARAM1, TOX4, TPPP2, TRA, TRAPPC6B, TSSK4, TTC6, VCPKMT, ZFHX2, ZNF219		Brain-lung-thyroid syndrome	Pathogenic (Feb 17, 2022)	criteria provided, single submitter
Select item 133348637.	NM_001079668.3(NKX2-1):c.679dup (p.Met227fs) GRCh37: Chr14:36987009-36987010 GRCh38: Chr14:36517804-36517805	NKX2-1, SFTA3	M197fs, M227fs	Brain-lung-thyroid syndrome	Likely pathogenic (Jan 3, 2022)	criteria provided, single submitter
Select item 132686538.	NM_001079668.3(NKX2-1):c.338dup (p.Tyr116fs) GRCh37: Chr14:36988314-36988315 GRCh38: Chr14:36519109-36519110	NKX2-1, SFTA3	Y116fs, Y86fs	Brain-lung-thyroid syndrome	Pathogenic (Dec 2, 2021)	criteria provided, single submitter
Select item 120458939.	NM_001079668.3(NKX2-1):c.727C>T (p.Arg243Cys) GRCh37: Chr14:36986962 GRCh38: Chr14:36517757	NKX2-1, SFTA3	R213C, R243C	not provided, Brain-lung-thyroid syndrome	Pathogenic/Likely pathogenic (Sep 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 113073740.	NM_001079668.3(NKX2-1):c.1054G>A (p.Gly352Ser) GRCh37: Chr14:36986635 GRCh38: Chr14:36517430	NKX2-1, SFTA3	G322S, G352S	not specified, not provided, Brain-lung-thyroid syndrome	Conflicting interpretations of pathogenicity (Aug 16, 2022)	criteria provided, conflicting interpretations
Select item 99299241.	NM_001079668.3(NKX2-1):c.583C>T (p.Arg195Trp) GRCh37: Chr14:36987106 GRCh38: Chr14:36517901	NKX2-1, SFTA3	R165W, R195W	Brain-lung-thyroid syndrome	Likely pathogenic (May 6, 2020)	no assertion criteria provided
Select item 98524142.	NM_001079668.3(NKX2-1):c.695C>T (p.Pro232Leu) GRCh37: Chr14:36986994 GRCh38: Chr14:36517789	NKX2-1, SFTA3	P202L, P232L	Inborn genetic diseases, Brain-lung-thyroid syndrome	Pathogenic/Likely pathogenic (Aug 24, 2020)	criteria provided, multiple submitters, no conflicts
Select item 93291743.	NM_001079668.3(NKX2-1):c.278_306del (p.Ala93fs) GRCh37: Chr14:36988347-36988375 GRCh38: Chr14:36519142-36519170	NKX2-1, SFTA3	A63fs, A93fs	Brain-lung-thyroid syndrome	Pathogenic (Jan 10, 2020)	criteria provided, single submitter
Select item 88389344.	NM_001079668.3(NKX2-1):c.786C>T (p.Asp262=) GRCh37: Chr14:36986903 GRCh38: Chr14:36517698	NKX2-1, SFTA3		Benign hereditary chorea, Brain-lung-thyroid syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88382145.	NM_001079668.3(NKX2-1):c.*536C>T GRCh37: Chr14:36985947 GRCh38: Chr14:36516742	NKX2-1, SFTA3		Brain-lung-thyroid syndrome, Benign hereditary chorea	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88382046.	NM_001079668.3(NKX2-1):c.*577C>T GRCh37: Chr14:36985906 GRCh38: Chr14:36516701	NKX2-1, SFTA3		Brain-lung-thyroid syndrome, Benign hereditary chorea	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88311747.	NM_001079668.3(NKX2-1):c.911C>A (p.Ala304Asp) GRCh37: Chr14:36986778 GRCh38: Chr14:36517573	SFTA3, NKX2-1	A274D, A304D	Benign hereditary chorea, Brain-lung-thyroid syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88311648.	NM_001079668.3(NKX2-1):c.918G>T (p.Ala306=) GRCh37: Chr14:36986771 GRCh38: Chr14:36517566	NKX2-1, SFTA3		Benign hereditary chorea, Brain-lung-thyroid syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88193649.	NM_001079668.3(NKX2-1):c.*179T>C GRCh37: Chr14:36986304 GRCh38: Chr14:36517099	NKX2-1, SFTA3		Benign hereditary chorea, Brain-lung-thyroid syndrome	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 87085650.	NM_001079668.3(NKX2-1):c.432C>A (p.Tyr144Ter) GRCh37: Chr14:36988221 GRCh38: Chr14:36519016	NKX2-1, SFTA3	Y144, Y114	Brain-lung-thyroid syndrome, not provided	Pathogenic/Likely pathogenic (Mar 9, 2020)	criteria provided, multiple submitters, no conflicts
Select item 80710951.	NM_001079668.3(NKX2-1):c.344del (p.Gly115fs) GRCh37: Chr14:36988309 GRCh38: Chr14:36519104	NKX2-1, SFTA3	G85fs, G115fs	not provided, Brain-lung-thyroid syndrome	Pathogenic/Likely pathogenic (Mar 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 80301852.	NM_001079668.3(NKX2-1):c.78-151A>G GRCh37: Chr14:36988726 GRCh38: Chr14:36519521	NKX2-1, NKX2-1-AS1, SFTA3		Brain-lung-thyroid syndrome	Likely benign (May 28, 2019)	criteria provided, single submitter
Select item 80301753.	NM_001079668.3(NKX2-1):c.267dup (p.His90fs) GRCh37: Chr14:36988385-36988386 GRCh38: Chr14:36519180-36519181	NKX2-1, SFTA3	H60fs, H90fs	not provided, Brain-lung-thyroid syndrome	Pathogenic (Sep 1, 2021)	criteria provided, multiple submitters, no conflicts
Select item 80301654.	NM_001079668.3(NKX2-1):c.714G>A (p.Trp238Ter) GRCh37: Chr14:36986975 GRCh38: Chr14:36517770	NKX2-1, SFTA3	W238, W208	not provided, Brain-lung-thyroid syndrome	Pathogenic/Likely pathogenic (Aug 31, 2021)	criteria provided, multiple submitters, no conflicts
Select item 80301555.	NM_001079668.3(NKX2-1):c.961C>A (p.Gln321Lys) GRCh37: Chr14:36986728 GRCh38: Chr14:36517523	SFTA3, NKX2-1	Q291K, Q321K	Brain-lung-thyroid syndrome	Uncertain significance (May 28, 2019)	criteria provided, single submitter
Select item 69562456.	NM_001079668.3(NKX2-1):c.190C>A (p.Leu64Ile) GRCh37: Chr14:36988463 GRCh38: Chr14:36519258	NKX2-1, SFTA3	L34I, L64I	not provided, Brain-lung-thyroid syndrome, Benign hereditary chorea	Benign/Likely benign (Apr 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 69534257.	NM_001079668.3(NKX2-1):c.796GGCGGGGGC[3] (p.Gly269_Gly271dup) GRCh37: Chr14:36986875-36986876 GRCh38: Chr14:36517670-36517671	NKX2-1, SFTA3		Brain-lung-thyroid syndrome, not provided	Conflicting interpretations of pathogenicity (Mar 1, 2023)	criteria provided, conflicting interpretations
Select item 68977358.	NM_001079668.3(NKX2-1):c.872C>G (p.Pro291Arg) GRCh37: Chr14:36986817 GRCh38: Chr14:36517612	NKX2-1, SFTA3	P261R, P291R	Benign hereditary chorea, Brain-lung-thyroid syndrome, Brain-lung-thyroid syndrome	Likely pathogenic (Jan 24, 2020)	criteria provided, multiple submitters, no conflicts
Select item 68946659.	NM_001079668.3(NKX2-1):c.1143CTC[1] (p.Ser383del) GRCh37: Chr14:36986541-36986543 GRCh38: Chr14:36517336-36517338	SFTA3, NKX2-1	S383del, S353del	Brain-lung-thyroid syndrome	Uncertain significance (Jun 10, 2019)	criteria provided, single submitter
Select item 63800260.	NM_001079668.3(NKX2-1):c.338_342del (p.Val113fs) GRCh37: Chr14:36988311-36988315 GRCh38: Chr14:36519106-36519110	NKX2-1, SFTA3	V83fs, V113fs	Brain-lung-thyroid syndrome	Likely pathogenic (Jan 18, 2019)	criteria provided, single submitter
Select item 63556361.	NM_001079668.3(NKX2-1):c.935dup (p.Gln313fs) GRCh37: Chr14:36986753-36986754 GRCh38: Chr14:36517548-36517549	NKX2-1, SFTA3	Q313fs, Q283fs	Brain-lung-thyroid syndrome	Likely pathogenic (Mar 25, 2019)	criteria provided, single submitter
Select item 63555762.	NM_001079668.3(NKX2-1):c.(?_-1)_*(1206_?)del GRCh37: Chr14:36985277-36989335 GRCh38: Chr14:36516072-36520130	NKX2-1, NKX2-1-AS1, SFTA3		Benign hereditary chorea, Brain-lung-thyroid syndrome	Pathogenic (Mar 7, 2019)	criteria provided, single submitter
Select item 63555563.	NM_001079668.3(NKX2-1):c.698C>T (p.Thr233Met) GRCh37: Chr14:36986991 GRCh38: Chr14:36517786	NKX2-1, SFTA3	T233M, T203M	Brain-lung-thyroid syndrome	Uncertain significance (Mar 5, 2019)	criteria provided, single submitter
Select item 56106564.	NM_001079668.3(NKX2-1):c.645C>G (p.Tyr215Ter) GRCh37: Chr14:36987044 GRCh38: Chr14:36517839	NKX2-1, SFTA3	Y215, Y185	Brain-lung-thyroid syndrome	Pathogenic (Sep 1, 2017)	criteria provided, single submitter
Select item 52121565.	NM_001079668.3(NKX2-1):c.617T>A (p.Leu206Gln) GRCh37: Chr14:36987072 GRCh38: Chr14:36517867	NKX2-1, SFTA3	L176Q, L206Q	Inborn genetic diseases, Brain-lung-thyroid syndrome	Pathogenic (Feb 28, 2020)	criteria provided, multiple submitters, no conflicts
Select item 50441766.	NM_001079668.3(NKX2-1):c.664G>T (p.Glu222Ter) GRCh37: Chr14:36987025 GRCh38: Chr14:36517820	NKX2-1, SFTA3	E222, E192	not provided, NKX2-1-related disorder, Brain-lung-thyroid syndrome	Pathogenic/Likely pathogenic (Nov 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 48755367.	NM_001079668.3(NKX2-1):c.1106C>T (p.Ala369Val) GRCh37: Chr14:36986583 GRCh38: Chr14:36517378	SFTA3, NKX2-1	A339V, A369V	Benign hereditary chorea, not provided, Brain-lung-thyroid syndrome	Conflicting interpretations of pathogenicity (Jan 21, 2021)	criteria provided, conflicting interpretations
Select item 43601668.	NM_001079668.3(NKX2-1):c.635A>C (p.Gln212Pro) GRCh37: Chr14:36987054 GRCh38: Chr14:36517849	SFTA3, NKX2-1	Q212P, Q182P	not provided, Brain-lung-thyroid syndrome	Conflicting interpretations of pathogenicity (Jun 1, 2021)	criteria provided, conflicting interpretations
Select item 37474069.	NM_001079668.3(NKX2-1):c.872C>T (p.Pro291Leu) GRCh37: Chr14:36986817 GRCh38: Chr14:36517612	NKX2-1, SFTA3	P291L, P261L	Brain-lung-thyroid syndrome, not provided	Pathogenic/Likely pathogenic (Apr 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 31314970.	NM_001079668.3(NKX2-1):c.-85G>T GRCh37: Chr14:36989419 GRCh38: Chr14:36520214	NKX2-1, NKX2-1-AS1		Brain-lung-thyroid syndrome, Benign hereditary chorea, not provided	Benign (Aug 11, 2018)	criteria provided, multiple submitters, no conflicts
Select item 31314871.	NM_001079668.3(NKX2-1):c.-71C>A GRCh37: Chr14:36989405 GRCh38: Chr14:36520200	NKX2-1, NKX2-1-AS1		Brain-lung-thyroid syndrome, Benign hereditary chorea	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 31314772.	NM_001079668.3(NKX2-1):c.29G>A (p.Arg10Gln) GRCh37: Chr14:36989306 GRCh38: Chr14:36520101	NKX2-1, NKX2-1-AS1	R10Q	Brain-lung-thyroid syndrome, Benign hereditary chorea, not provided	Benign/Likely benign (Jul 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 31314673.	NM_001079668.3(NKX2-1):c.201G>A (p.Pro67=) GRCh37: Chr14:36988452 GRCh38: Chr14:36519247	NKX2-1, SFTA3		Benign hereditary chorea, Brain-lung-thyroid syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31314574.	NM_001079668.3(NKX2-1):c.435C>G (p.Gly145=) GRCh37: Chr14:36988218 GRCh38: Chr14:36519013	NKX2-1, SFTA3		not provided, Benign hereditary chorea, Brain-lung-thyroid syndrome	Conflicting interpretations of pathogenicity (Jun 24, 2021)	criteria provided, conflicting interpretations
Select item 31314475.	NM_001079668.3(NKX2-1):c.535G>T (p.Val179Leu) GRCh37: Chr14:36987154 GRCh38: Chr14:36517949	NKX2-1, SFTA3	V179L, V149L	Brain-lung-thyroid syndrome, Benign hereditary chorea	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 31314376.	NM_001079668.3(NKX2-1):c.657G>A (p.Pro219=) GRCh37: Chr14:36987032 GRCh38: Chr14:36517827	NKX2-1, SFTA3		Brain-lung-thyroid syndrome, Benign hereditary chorea	Likely benign (Jan 12, 2018)	criteria provided, single submitter
Select item 31314277.	NM_001079668.3(NKX2-1):c.816C>T (p.Thr272=) GRCh37: Chr14:36986873 GRCh38: Chr14:36517668	NKX2-1, SFTA3		Brain-lung-thyroid syndrome, Benign hereditary chorea	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 31314178.	NM_001079668.3(NKX2-1):c.925G>T (p.Ala309Ser) GRCh37: Chr14:36986764 GRCh38: Chr14:36517559	NKX2-1, SFTA3	A309S, A279S	Brain-lung-thyroid syndrome, Benign hereditary chorea	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31314079.	NM_001079668.3(NKX2-1):c.1093G>T (p.Ala365Ser) GRCh37: Chr14:36986596 GRCh38: Chr14:36517391	NKX2-1, SFTA3	A365S, A335S	not specified, Brain-lung-thyroid syndrome, Benign hereditary chorea, not provided	Benign/Likely benign (Oct 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 31313880.	NM_001079668.3(NKX2-1):c.1200C>T (p.Thr400=) GRCh37: Chr14:36986489 GRCh38: Chr14:36517284	NKX2-1, SFTA3		Brain-lung-thyroid syndrome, Benign hereditary chorea, not provided	Conflicting interpretations of pathogenicity (Jun 24, 2022)	criteria provided, conflicting interpretations
Select item 31313781.	NM_001079668.3(NKX2-1):c.*14C>T GRCh37: Chr14:36986469 GRCh38: Chr14:36517264	NKX2-1, SFTA3		Benign hereditary chorea, Brain-lung-thyroid syndrome	Likely benign (Jun 14, 2016)	criteria provided, single submitter
Select item 31313682.	NM_001079668.3(NKX2-1):c.185_186dup GRCh37: Chr14:36986296-36986297 GRCh38: Chr14:36517091-36517092	NKX2-1, SFTA3		Brain-lung-thyroid syndrome, Benign hereditary chorea	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 31313583.	NM_001079668.3(NKX2-1):c.*186dup GRCh37: Chr14:36986296-36986297 GRCh38: Chr14:36517091-36517092	NKX2-1, SFTA3		Brain-lung-thyroid syndrome, Benign hereditary chorea	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 31313484.	NM_001079668.3(NKX2-1):c.*209T>A GRCh37: Chr14:36986274 GRCh38: Chr14:36517069	NKX2-1, SFTA3		Benign hereditary chorea, not provided, Brain-lung-thyroid syndrome	Benign (Jun 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 31313385.	NM_001079668.3(NKX2-1):c.*210T>A GRCh37: Chr14:36986273 GRCh38: Chr14:36517068	NKX2-1, SFTA3		not provided, Benign hereditary chorea, Brain-lung-thyroid syndrome	Benign (Aug 10, 2019)	criteria provided, multiple submitters, no conflicts
Select item 31313286.	NM_001079668.3(NKX2-1):c.*210dup GRCh37: Chr14:36986272-36986273 GRCh38: Chr14:36517067-36517068	NKX2-1, SFTA3		not provided, Brain-lung-thyroid syndrome, Benign hereditary chorea	Conflicting interpretations of pathogenicity (Jul 1, 2023)	criteria provided, conflicting interpretations
Select item 31313187.	NM_001079668.3(NKX2-1):c.*292dup GRCh37: Chr14:36986190-36986191 GRCh38: Chr14:36516985-36516986	NKX2-1, SFTA3		not provided, Benign hereditary chorea, Brain-lung-thyroid syndrome	Benign (Aug 14, 2018)	criteria provided, multiple submitters, no conflicts
Select item 31313088.	NM_001079668.3(NKX2-1):c.*436A>C GRCh37: Chr14:36986047 GRCh38: Chr14:36516842	NKX2-1, SFTA3		Brain-lung-thyroid syndrome, Benign hereditary chorea	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 31312989.	NM_001079668.3(NKX2-1):c.*460dup GRCh37: Chr14:36986022-36986023 GRCh38: Chr14:36516817-36516818	NKX2-1, SFTA3		Brain-lung-thyroid syndrome, Benign hereditary chorea	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 31312890.	NM_001079668.3(NKX2-1):c.*460del GRCh37: Chr14:36986023 GRCh38: Chr14:36516818	NKX2-1, SFTA3		Brain-lung-thyroid syndrome, Benign hereditary chorea	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 31312791.	NM_001079668.3(NKX2-1):c.459_460dup GRCh37: Chr14:36986022-36986023 GRCh38: Chr14:36516817-36516818	NKX2-1, SFTA3		Brain-lung-thyroid syndrome, Benign hereditary chorea	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 31312692.	NM_001079668.3(NKX2-1):c.*470A>G GRCh37: Chr14:36986013 GRCh38: Chr14:36516808	NKX2-1, SFTA3		Brain-lung-thyroid syndrome, Benign hereditary chorea	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 31312593.	NM_001079668.3(NKX2-1):c.*544G>A GRCh37: Chr14:36985939 GRCh38: Chr14:36516734	NKX2-1, SFTA3		Brain-lung-thyroid syndrome, Benign hereditary chorea	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31312494.	NM_001079668.3(NKX2-1):c.*579C>G GRCh37: Chr14:36985904 GRCh38: Chr14:36516699	NKX2-1, SFTA3		Brain-lung-thyroid syndrome, Benign hereditary chorea	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 31312395.	NM_001079668.3(NKX2-1):c.*581del GRCh37: Chr14:36985902 GRCh38: Chr14:36516697	NKX2-1, SFTA3		Brain-lung-thyroid syndrome, Benign hereditary chorea	Likely benign (Jun 14, 2016)	criteria provided, single submitter
Select item 31312296.	NM_001079668.3(NKX2-1):c.*820A>G GRCh37: Chr14:36985663 GRCh38: Chr14:36516458	NKX2-1, SFTA3		Brain-lung-thyroid syndrome, Benign hereditary chorea	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 21788497.	NM_001079668.3(NKX2-1):c.524C>A (p.Ser175Ter) GRCh37: Chr14:36987165 GRCh38: Chr14:36517960	NKX2-1, SFTA3	S175, S145	Dystonic disorder, not provided	Pathogenic (Oct 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 898298.	NM_001079668.3(NKX2-1):c.464-2A>G GRCh37: Chr14:36987227 GRCh38: Chr14:36518022	NKX2-1, SFTA3		Brain-lung-thyroid syndrome	Pathogenic (Feb 11, 2020)	criteria provided, single submitter
Select item 898199.	NM_001079668.3(NKX2-1):c.344dup (p.Tyr116fs) GRCh37: Chr14:36988308-36988309 GRCh38: Chr14:36519103-36519104	NKX2-1, SFTA3	Y116fs, Y86fs	Brain-lung-thyroid syndrome	Pathogenic (Apr 24, 2018)	criteria provided, single submitter
Select item 8979100.	NM_001079668.3(NKX2-1):c.613G>T (p.Glu205Ter) GRCh37: Chr14:36987076 GRCh38: Chr14:36517871	NKX2-1, SFTA3	E175, E205	Inborn genetic diseases, not provided, Brain-lung-thyroid syndrome, Benign hereditary chorea	Pathogenic/Likely pathogenic (May 9, 2022)	criteria provided, multiple submitters, no conflicts

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