"GeneDx"[submitter] AND "TBP"[gene] - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58453	GRCh38/hg38 6q25.2-27(chr6:154118058-170602152)x1	ACAT2, AFDN +549 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 58487	GRCh38/hg38 6q27(chr6:169021176-170602152)x1	C6orf120, DLL1 +54 more	Copy number loss	See cases	GPathogenic
Select item 1274220	NM_003194.5(TBP):c.55-303T>G	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 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
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 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 1253842	NM_003194.5(TBP):c.497+272A>G	TBP	Single nucleotide variant (intron variant)	not provided	GBenign
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 253576	GRCh37/hg19 6q27(chr6:165443824-170892302)x1	AFDN, C6orf118 +30 more	Copy number loss	See cases	GPathogenic