ClinVar for Gene (Select 6908) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 3250531	NM_003194.5(TBP):c.237G>A (p.Gln79=)	LOC108663996, TBP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 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 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 3148927	GRCh37/hg19 6q25.2-27(chr6:152853218-170914297)x1	ACAT2, AFDN +79 more	Copy number loss	See cases	GPathogenic
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 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 3049695	NM_003194.5(TBP):c.570C>T (p.Ala190=)	TBP	Single nucleotide variant (synonymous variant)	TBP-related disorder	GLikely benign
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
Select item 2685219	GRCh37/hg19 6q27(chr6:167091844-170919482)x1	AFDN, C6orf120 +22 more	Copy number loss	not provided	GPathogenic
Select item 2673092	NM_003194.5(TBP):c.677+6C>G	TBP	Single nucleotide variant (intron variant)	not provided	GUncertain significance
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 2657163	NM_003194.5(TBP):c.273G>A (p.Gln91=)	LOC108663996, TBP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2657161	NM_003194.5(TBP):c.240G>A (p.Gln80=)	LOC108663996, TBP	Single nucleotide variant (synonymous variant)	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 2657158	NM_003194.5(TBP):c.216_230del (p.Gln91_Gln95del)	LOC108663996, TBP	Deletion (inframe_deletion)	not provided	GLikely benign
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 2583044	GRCh37/hg19 6q25.3-27(chr6:160952761-170892276)x1	FRMD1, MAP3K4 +37 more	Copy number loss	not provided	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 2576597	NM_003194.5(TBP):c.225GCA[25] (p.Gln95_Ala96insGlnGlnGlnGlnGlnGln)	LOC108663996, TBP	Microsatellite (inframe_insertion)	Spinocerebellar ataxia type 17	GPathogenic
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 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 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 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 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 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 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 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 1807798	GRCh37/hg19 6q26-27(chr6:163181847-170919482)x1	AFDN, C6orf118 +32 more	Copy number loss	not provided	GPathogenic
Select item 1711652	GRCh37/hg19 6q26-27(chr6:163836226-170893669)x1	WDR27, AFDN +31 more	Copy number loss	not provided	GPathogenic
Select item 1711162	GRCh37/hg19 6q27(chr6:170657577-170919482)x1	FAM120B, PDCD2 +2 more	Copy number loss	See cases	GUncertain significance
Select item 1711095	GRCh37/hg19 6q27(chr6:168552894-170919482)x1	C6orf120, DACT2 +11 more	Copy number loss	See cases	GPathogenic
Select item 1706509	GRCh37/hg19 6q27(chr6:167770398-170919482)x1	AFDN, C6orf120 +15 more	Copy number loss	See cases	GPathogenic
Select item 1703663	GRCh37/hg19 6q25.3-27(chr6:159121459-170919482)	ACAT2, AFDN +55 more	Copy number loss	Hydrocephalus	GPathogenic
Select item 1703662	GRCh37/hg19 6q27(chr6:168643852-170919482)	C6orf120, DACT2 +11 more	Copy number loss	Multiple congenital anomalies/dysmorphic syndrome	GPathogenic
Select item 1527330	GRCh37/hg19 6q27(chr6:170262214-170919482)	DLL1, FAM120B +3 more	Copy number loss	not specified	GPathogenic
Select item 1527329	GRCh37/hg19 6q27(chr6:170230181-170919482)	DLL1, FAM120B +3 more	Copy number loss	not specified	GLikely pathogenic
Select item 1527327	GRCh37/hg19 6q27(chr6:167317903-170919482)	AFDN, C6orf120 +21 more	Copy number loss	not specified	GPathogenic
Select item 1527323	GRCh37/hg19 6q26-27(chr6:163290087-170919482)	AFDN, C6orf118 +32 more	Copy number loss	not specified	GPathogenic
Select item 1527321	GRCh37/hg19 6q26-27(chr6:162381975-170919482)	AFDN, C6orf118 +33 more	Copy number loss	not specified	GPathogenic
Select item 1527320	GRCh37/hg19 6q26-27(chr6:162212864-170919482)	AFDN, C6orf118 +33 more	Copy number gain	not specified	GPathogenic
Select item 1527319	GRCh37/hg19 6q26-27(chr6:161047873-170919482)	AFDN, AGPAT4 +37 more	Copy number loss	not specified	GPathogenic
Select item 1340986	GRCh37/hg19 6q27(chr6:168939661-170919482)x1	C6orf120, DLL1 +10 more	Copy number loss	not provided	GPathogenic
Select item 1340090	GRCh37/hg19 6q27(chr6:168051206-170919482)x1	AFDN, C6orf120 +15 more	Copy number loss	not provided	GPathogenic
Select item 1339512	NM_003194.5(TBP):c.216del (p.Gln72fs)	LOC108663996, TBP (Q52fs +1 more)	Deletion (frameshift variant)	not specified	GBenign
Select item 1330195	GRCh37/hg19 6q27(chr6:169830713-171022896)x1	C6orf120, DLL1 +8 more	Copy number loss	Intellectual developmental disorder with seizures and language delay	GPathogenic
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 1281994	NM_003194.5(TBP):c.678-275C>T	TBP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274220	NM_003194.5(TBP):c.55-303T>G	TBP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253842	NM_003194.5(TBP):c.497+272A>G	TBP	Single nucleotide variant (intron 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 1221615	NM_003194.5(TBP):c.192GCA[9] (p.Gln95dup)	LOC108663996, TBP	Microsatellite (inframe_insertion)	not provided	GBenign
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 1174728	NM_003194.5(TBP):c.231_240del (p.Gln77fs)	LOC108663996, TBP (Q57fs +1 more)	Deletion (frameshift variant)	not specified	GBenign
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 1049045	NM_003194.5(TBP):c.225GCA[10] (p.Gln87_Gln95del)	TBP, LOC108663996	Microsatellite (inframe_deletion)	not provided	GBenign
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 979749	GRCh37/hg19 6q27(chr6:167580012-170919482)x1	AFDN, C6orf120 +17 more	Copy number loss	not provided	GPathogenic
Select item 979597	GRCh37/hg19 6q27(chr6:166083476-170919482)x3	AFDN, C6orf120 +28 more	Copy number gain	not provided	GLikely pathogenic
Select item 814909	GRCh37/hg19 6q27(chr6:170331096-170919482)x1	PSMB1, PDCD2 +3 more	Copy number loss	not provided	GLikely pathogenic
Select item 814908	GRCh37/hg19 6q27(chr6:170136337-170919482)x1	PSMB1, DLL1 +5 more	Copy number loss	not provided	GPathogenic
Select item 814905	GRCh37/hg19 6q27(chr6:167440417-170919482)x1	AFDN, C6orf120 +20 more	Copy number loss	not provided	GPathogenic
Select item 814901	GRCh37/hg19 6q26-27(chr6:162661108-170919482)x1	CEP43, DACT2 +33 more	Copy number loss	not provided	GPathogenic
Select item 814897	GRCh37/hg19 6q26-27(chr6:162452035-170919482)x1	GPR31, KIF25 +33 more	Copy number loss	not provided	GPathogenic
Select item 689155	GRCh37/hg19 6q27(chr6:170799449-170864758)x3	PSMB1, TBP	Copy number gain	not provided	GUncertain significance
Select item 685707	GRCh37/hg19 6q27(chr6:166607593-170919482)x1	AFDN, C6orf120 +25 more	Copy number loss	not provided	GPathogenic
Select item 685152	GRCh37/hg19 6q27(chr6:170653923-170919482)x3	FAM120B, PDCD2 +2 more	Copy number gain	not provided	GUncertain significance
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 626287	Single allele	AFDN, C6orf118 +33 more	Deletion	not provided	GLikely pathogenic
Select item 625666	GRCh37/hg19 6q27(chr6:168311806-170881789)	AFDN, C6orf120 +13 more	Copy number loss	not provided	GPathogenic
Select item 625656	GRCh37/hg19 6q27(chr6:166517762-170919470)	AFDN, C6orf120 +26 more	Copy number loss	not provided	GPathogenic
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 563263	GRCh37/hg19 6q27(chr6:170331096-170894127)x3	TBP, PDCD2 +3 more	Copy number gain	not provided	GUncertain significance
Select item 563258	GRCh37/hg19 6q27(chr6:167388817-170919482)x1	AFDN, C6orf120 +20 more	Copy number loss	not provided	GPathogenic
Select item 563255	GRCh37/hg19 6q27(chr6:165190527-170919482)x1	AFDN, C6orf118 +30 more	Copy number loss	not provided	GPathogenic
Select item 563245	GRCh37/hg19 6q25.3-27(chr6:159844762-170919482)x3	ACAT2, AFDN +49 more	Copy number gain	not provided	GPathogenic
Select item 562072	NG_008165.1:g.12526CAR[46_?]	LOC108663996, TBP	Microsatellite	Spinocerebellar ataxia type 17 +1 more	GPathogenic; risk factor
Select item 561258	46,XX,der(6)(q25.1,q28)dn.seq[GRCh37/hg19]der(6)(6pter->6q25.2(+)(154768571)::q25.2(+)(154778901),q25.2(+)154778992::q25.2(-)(154774048),q25.2(-)(154768571)::q25.2(-)(154768571),q25.1(-)(~151443183-151443483))dn	FNDC1, FRMD1 +86 more	Complex	Coffin-Siris syndrome 1	GPathogenic
Select item 560073	Single allele	DLL1, FAM120B +3 more	Duplication	not provided	GUncertain significance
Select item 549604	NC_000006.12:g.170299941_170556913dup	FAM120B, LOC110121051 +9 more	Duplication	Primary amenorrhea	GUncertain significance
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 445790	NM_003194.4(TBP):c.276_281dup (p.Gln95_Ala96insGlnGln)	LOC108663996, TBP	Microsatellite (inframe_insertion)	not provided	GLikely benign
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 442494	GRCh37/hg19 6q26-27(chr6:164276935-170919482)x1	AFDN, C6orf118 +30 more	Copy number loss	See cases	GPathogenic
Select item 442252	GRCh37/hg19 6q27(chr6:166110423-170919482)x1	AFDN, C6orf120 +28 more	Copy number loss	See cases	GPathogenic
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

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