Related gene-specific medical variations for Gene (Select 6908) - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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)	TBP, LOC108663996 (Q92H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2221762	NM_003194.5(TBP):c.246G>C (p.Gln82His)	TBP, LOC108663996 (Q62H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1339512	NM_003194.5(TBP):c.216del (p.Gln72fs)	LOC108663996, TBP (Q52fs +1 more)	Deletion (frameshift variant)	not specified	GBenign
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 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)	LOC108663996, TBP	Microsatellite (inframe_deletion)	not provided	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 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 562072	NG_008165.1:g.12526CAR[46_?]	LOC108663996, TBP	Microsatellite	Spinocerebellar ataxia type 17 +1 more	GPathogenic; risk factor
Select item 522261	NM_003194.5(TBP):c.216_218del (p.Gln95del)	LOC108663996, TBP (Q95del +1 more)	Deletion (inframe_deletion)	not provided +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 403524	NM_003194.5(TBP):c.228_229del (p.Gln77fs)	LOC108663996, TBP (Q77fs +1 more)	Deletion (frameshift variant)	not specified +1 more	GBenign
Select item 212374	NM_003194.4(TBP):c.223_281delins50 (p.?)	LOC108663996, TBP	Indel	not specified	GUncertain significance
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 130559	NM_003194.4(TBP):c.223_281delins53 (p.?)	LOC108663996, TBP	Indel	not provided	GUncertain significance
Select item 130558	NM_003194.5(TBP):c.216A>G (p.Gln72=)	LOC108663996, TBP	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign

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Links from Gene

Items: 32