ClinVar for MedGen (Select 337637) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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)	Spinocerebellar ataxia type 17 +1 more	GBenign
Select item 130558	NM_003194.5(TBP):c.216A>G (p.Gln72=)	TBP, LOC108663996	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign

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