TBP[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154527	GRCh38/hg38 6q25.2-27(chr6:152376338-170612001)x3	LOC101929460, LOC102724087 +572 more	Copy number gain	See cases	GPathogenic
Select item 153525	GRCh38/hg38 6q25.2-27(chr6:152793402-170610394)x1	LOC129997640, LOC129997641 +564 more	Copy number loss	See cases	GPathogenic
Select item 58453	GRCh38/hg38 6q25.2-27(chr6:154118058-170602152)x1	ACAT2, AFDN +549 more	Copy number loss	See cases	GPathogenic
Select item 148306	GRCh38/hg38 6q25.2-27(chr6:154539655-170714507)x1	IGF2R, KIF25 +540 more	Copy number loss	See cases	GPathogenic
Select item 58455	GRCh38/hg38 6q25.3-27(chr6:159454639-170612001)x1	LOC126859858, LOC126859859 +340 more	Copy number loss	See cases	GPathogenic
Select item 58456	GRCh38/hg38 6q25.3-27(chr6:159825913-170612001)x1	AFDN, AFDN-DT +322 more	Copy number loss	See cases	GPathogenic
Select item 150838	GRCh38/hg38 6q25.3-27(chr6:159915390-170714507)x1	LOC129997629, LOC129997630 +323 more	Copy number loss	See cases	GPathogenic
Select item 58458	GRCh38/hg38 6q25.3-27(chr6:160359686-170608818)x1	AFDN, AFDN-DT +300 more	Copy number loss	See cases	GPathogenic
Select item 144539	GRCh38/hg38 6q25.3-27(chr6:160484810-170612011)x1	AFDN, AFDN-DT +298 more	Copy number loss	See cases	GPathogenic
Select item 155552	GRCh38/hg38 6q26-27(chr6:160899898-170610394)x1	AFDN, AFDN-DT +278 more	Copy number loss	See cases	GPathogenic
Select item 2579276	GRCh38/hg38 6q26-27(chr6:161349282-170584790)x1	AFDN, AFDN-DT +255 more	Copy number loss	Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures	GPathogenic
Select item 58468	GRCh38/hg38 6q26-27(chr6:162042846-170608818)x1	LOC129997659, LOC129997660 +248 more	Copy number loss	See cases	GPathogenic
Select item 58469	GRCh38/hg38 6q26-27(chr6:162789915-170602152)x1	AFDN, AFDN-DT +244 more	Copy number loss	See cases	GPathogenic
Select item 58470	GRCh38/hg38 6q26-27(chr6:163420224-170608818)x1	AFDN, AFDN-DT +225 more	Copy number loss	See cases	GPathogenic
Select item 146089	GRCh38/hg38 6q27(chr6:164790270-170612001)x1	AFDN, AFDN-DT +204 more	Copy number loss	See cases	GPathogenic
Select item 58472	GRCh38/hg38 6q27(chr6:166370159-170602152)x1	AFDN, AFDN-DT +169 more	Copy number loss	See cases	GPathogenic
Select item 148449	GRCh38/hg38 6q27(chr6:167145050-170714507)x1	AFDN, AFDN-DT +112 more	Copy number loss	See cases	GPathogenic
Select item 155515	GRCh38/hg38 6q27(chr6:167760366-170610394)x1	AFDN, AFDN-DT +87 more	Copy number loss	See cases	GPathogenic
Select item 152206	GRCh38/hg38 6q27(chr6:167896913-170714507)x1	AFDN, C6orf120 +78 more	Copy number loss	See cases	GPathogenic
Select item 58474	GRCh38/hg38 6q27(chr6:167924952-170602152)x1	PHF10, PSMB1 +77 more	Copy number loss	See cases	GPathogenic
Select item 150709	GRCh38/hg38 6q27(chr6:167963618-170597678)x1	AFDN, C6orf120 +77 more	Copy number loss	See cases	GPathogenic
Select item 58475	GRCh38/hg38 6q27(chr6:168180473-170583214)x1	C6orf120, DACT2 +68 more	Copy number loss	See cases	GPathogenic
Select item 57303	GRCh38/hg38 6q27(chr6:168524169-170612001)x1	C6orf120, DLL1 +60 more	Copy number loss	See cases	GPathogenic
Select item 151758	GRCh38/hg38 6q27(chr6:168581259-170610394)x1	C6orf120, DLL1 +60 more	Copy number loss	See cases	GPathogenic
Select item 148570	GRCh38/hg38 6q27(chr6:168802993-170714507)x1	C6orf120, DLL1 +57 more	Copy number loss	See cases	GLikely pathogenic
Select item 148678	GRCh38/hg38 6q27(chr6:168881467-170602152)x1	C6orf120, DLL1 +56 more	Copy number loss	See cases	GPathogenic
Select item 58487	GRCh38/hg38 6q27(chr6:169021176-170602152)x1	C6orf120, DLL1 +54 more	Copy number loss	See cases	GPathogenic
Select item 57021	GRCh38/hg38 6q27(chr6:169441378-170612001)x1	C6orf120, DLL1 +40 more	Copy number loss	See cases	GPathogenic
Select item 57508	GRCh38/hg38 6q27(chr6:169641704-170612001)x1	C6orf120, DLL1 +37 more	Copy number loss	See cases	GPathogenic
Select item 147670	GRCh38/hg38 6q27(chr6:169688809-170583214)x1	C6orf120, DLL1 +34 more	Copy number loss	See cases	GPathogenic
Select item 150245	GRCh38/hg38 6q27(chr6:170014772-170714507)x1	DLL1, FAM120B +22 more	Copy number loss	See cases	GUncertain significance
Select item 153688	GRCh38/hg38 6q27(chr6:170187559-170610394)x3	DLL1, FAM120B +17 more	Copy number gain	See cases	GUncertain significance
Select item 148324	GRCh38/hg38 6q27(chr6:170210927-170714507)x1	DLL1, FAM120B +18 more	Copy number loss	See cases	GLikely pathogenic
Select item 148348	GRCh38/hg38 6q27(chr6:170257060-170714507)x1	DLL1, FAM120B +18 more	Copy number loss	See cases	GUncertain significance
Select item 549604	NC_000006.12:g.170299941_170556913dup	FAM120B, LOC110121051 +9 more	Duplication	Primary amenorrhea	GUncertain significance
Select item 148259	GRCh38/hg38 6q27(chr6:170425647-170567808)x4	LOC108663996, LOC110121051 +6 more	Copy number gain	See cases	GLikely benign
Select item 57071	GRCh38/hg38 6q27(chr6:170471093-170583214)x3	LOC108663996, LOC126859915 +5 more	Copy number gain	See cases	GUncertain significance
Select item 154712	GRCh38/hg38 6q27(chr6:170523344-170602152)x3	LOC108663996, LOC129997715 +5 more	Copy number gain	See cases	GBenign
Select item 57414	GRCh38/hg38 6q27(chr6:170538168-170612001)x3	LOC108663996, LOC129997715 +5 more	Copy number gain	See cases	GUncertain significance
Select item 1274220	NM_003194.5(TBP):c.55-303T>G	TBP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 562072	NG_008165.1:g.12526CAR[46_?]	LOC108663996, TBP	Microsatellite	Spinocerebellar ataxia type 17 +1 more	GPathogenic; risk factor
Select item 1221615	NM_003194.5(TBP):c.192GCA[9] (p.Gln95dup)	LOC108663996, TBP	Microsatellite (inframe_insertion)	not provided	GBenign
Select item 2379986	NM_003194.5(TBP):c.200A>G (p.Gln67Arg)	LOC108663996, TBP (Q47R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2657158	NM_003194.5(TBP):c.216_230del (p.Gln91_Gln95del)	LOC108663996, TBP	Deletion (inframe_deletion)	not provided	GLikely benign
Select item 522261	NM_003194.5(TBP):c.216_218del (p.Gln95del)	LOC108663996, TBP (Q95del +1 more)	Deletion (inframe_deletion)	Spinocerebellar ataxia type 17 +1 more	GBenign
Select item 1339512	NM_003194.5(TBP):c.216del (p.Gln72fs)	LOC108663996, TBP (Q52fs +1 more)	Deletion (frameshift variant)	not specified	GBenign
Select item 130558	NM_003194.5(TBP):c.216A>G (p.Gln72=)	LOC108663996, TBP	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 1050369	NM_003194.5(TBP):c.222_224del (p.Gln95del)	LOC108663996, TBP (Q75del +1 more)	Deletion (inframe_deletion)	not specified	GBenign
Select item 634587	NM_003194.5(TBP):c.221_222insGC (p.Gln75fs)	LOC108663996, TBP (Q55fs +1 more)	Insertion (frameshift variant)	Spinocerebellar ataxia type 17	GUncertain significance
Select item 2590300	NM_003194.5(TBP):c.222A>G (p.Gln74=)	LOC108663996, TBP	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2576597	NM_003194.5(TBP):c.225GCA[25] (p.Gln95_Ala96insGlnGlnGlnGlnGlnGln)	LOC108663996, TBP	Microsatellite (inframe_insertion)	Spinocerebellar ataxia type 17	GPathogenic
Select item 445790	NM_003194.4(TBP):c.276_281dup (p.Gln95_Ala96insGlnGln)	LOC108663996, TBP	Microsatellite (inframe_insertion)	not provided	GLikely benign
Select item 2657160	NM_003194.5(TBP):c.225GCA[7] (p.Gln84_Gln95del)	LOC108663996, TBP	Microsatellite (inframe_deletion)	not provided	GBenign
Select item 2657159	NM_003194.5(TBP):c.225GCA[11] (p.Gln88_Gln95del)	LOC108663996, TBP	Microsatellite (inframe_deletion)	not provided	GBenign
Select item 1049045	NM_003194.5(TBP):c.225GCA[10] (p.Gln87_Gln95del)	TBP, LOC108663996	Microsatellite (inframe_deletion)	not provided	GBenign
Select item 599435	NM_003194.5(TBP):c.225GCA[18] (p.Gln95del)	TBP, LOC108663996 (Q95del +1 more)	Microsatellite (inframe_deletion)	not specified	GBenign
Select item 599434	NM_003194.5(TBP):c.225GCA[16] (p.Gln93_Gln95del)	TBP, LOC108663996	Microsatellite (inframe_deletion)	not specified	GBenign
Select item 212374	NM_003194.4(TBP):c.223_281delins50 (p.?)	LOC108663996, TBP	Indel	not specified	GUncertain significance
Select item 130559	NM_003194.4(TBP):c.223_281delins53 (p.?)	LOC108663996, TBP	Indel	not provided	GUncertain significance
Select item 1175138	NM_003194.5(TBP):c.226_227insCAA (p.Gln76delinsProLys)	LOC108663996, TBP	Insertion (inframe_indel)	not provided +1 more	GBenign/Likely benign
Select item 403524	NM_003194.5(TBP):c.228_229del (p.Gln77fs)	LOC108663996, TBP (Q77fs +1 more)	Deletion (frameshift variant)	not provided +1 more	GBenign
Select item 130560	NM_003194.5(TBP):c.228G>A (p.Gln76=)	LOC108663996, TBP	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 3065444	NM_003194.5(TBP):c.231del (p.Gln77fs)	LOC108663996, TBP (Q57fs +1 more)	Deletion (frameshift variant)	not provided	GLikely benign
Select item 1299293	NM_003194.5(TBP):c.231_243del (p.Gln77fs)	LOC108663996, TBP (Q57fs +1 more)	Deletion (frameshift variant)	not provided +1 more	GBenign/Likely benign
Select item 1174728	NM_003194.5(TBP):c.231_240del (p.Gln77fs)	LOC108663996, TBP (Q57fs +1 more)	Deletion (frameshift variant)	not specified	GBenign
Select item 3250531	NM_003194.5(TBP):c.237G>A (p.Gln79=)	LOC108663996, TBP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2657161	NM_003194.5(TBP):c.240G>A (p.Gln80=)	LOC108663996, TBP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2673091	NM_003194.5(TBP):c.243G>A (p.Gln81=)	LOC108663996, TBP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2528432	NM_003194.5(TBP):c.246G>T (p.Gln82His)	LOC108663996, TBP (Q62H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2221762	NM_003194.5(TBP):c.246G>C (p.Gln82His)	LOC108663996, TBP (Q62H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2657162	NM_003194.5(TBP):c.249G>A (p.Gln83=)	LOC108663996, TBP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3174877	NM_003194.5(TBP):c.269A>G (p.Gln90Arg)	LOC108663996, TBP (Q90R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2657163	NM_003194.5(TBP):c.273G>A (p.Gln91=)	LOC108663996, TBP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2363284	NM_003194.5(TBP):c.276G>C (p.Gln92His)	LOC108663996, TBP (Q92H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3174878	NM_003194.5(TBP):c.313T>C (p.Ser105Pro)	TBP (S105P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2400117	NM_003194.5(TBP):c.344C>T (p.Ser115Leu)	TBP (S115L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3174879	NM_003194.5(TBP):c.352G>A (p.Ala118Thr)	TBP (A118T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2325998	NM_003194.5(TBP):c.355C>A (p.Pro119Thr)	TBP (P99T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3324807	NM_003194.5(TBP):c.385A>C (p.Thr129Pro)	TBP (T109P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3174880	NM_003194.5(TBP):c.392C>T (p.Pro131Leu)	TBP (P131L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3337656	NM_003194.5(TBP):c.398C>T (p.Pro133Leu)	TBP (P113L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2263967	NM_003194.5(TBP):c.400G>T (p.Gly134Cys)	TBP (G114C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1033982	NM_003194.5(TBP):c.410C>T (p.Pro137Leu)	TBP (P137L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3324808	NM_003194.5(TBP):c.464C>G (p.Ala155Gly)	TBP (A155G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1253842	NM_003194.5(TBP):c.497+272A>G	TBP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3324810	NM_003194.5(TBP):c.551C>T (p.Ala184Val)	TBP (A184V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2274291	NM_003194.5(TBP):c.557G>A (p.Arg186His)	TBP (R186H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3049695	NM_003194.5(TBP):c.570C>T (p.Ala190=)	TBP	Single nucleotide variant (synonymous variant)	TBP-related disorder	GLikely benign
Select item 3324809	NM_003194.5(TBP):c.643A>G (p.Ser215Gly)	TBP (S195G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2673092	NM_003194.5(TBP):c.677+6C>G	TBP	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1281994	NM_003194.5(TBP):c.678-275C>T	TBP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 130561	NM_003194.5(TBP):c.771T>C (p.Asn257=)	TBP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1222300	NM_003194.5(TBP):c.941-144T>C	TBP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3148927	GRCh37/hg19 6q25.2-27(chr6:152853218-170914297)x1	ACAT2, AFDN +79 more	Copy number loss	See cases	GPathogenic
Select item 3062910	GRCh37/hg19 6q26-27(chr6:162079329-170919482)x1	AFDN, C6orf118 +33 more	Copy number loss	not specified	GPathogenic
Select item 3062904	GRCh37/hg19 6q27(chr6:170158867-170919482)x1	DLL1, ERMARD +4 more	Copy number loss	not specified	GLikely pathogenic
Select item 3024639	GRCh37/hg19 6q26-27(chr6:162124972-170893669)x1	C6orf120, PDE10A +33 more	Copy number loss	not provided	GPathogenic
Select item 2685226	GRCh37/hg19 6q27(chr6:170808082-170919482)x1	PDCD2, PSMB1 +1 more	Copy number loss	not provided	GUncertain significance
Select item 2685225	GRCh37/hg19 6q27(chr6:170779743-170877175)x1	PSMB1, TBP	Copy number loss	not provided	GUncertain significance
Select item 2685224	GRCh37/hg19 6q27(chr6:170466312-170919482)x1	DLL1, FAM120B +3 more	Copy number loss	not provided	GPathogenic

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