"Revvity Omics, Revvity"[submitter] AND "TBC1D23"[gene] - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2436958	NM_001199198.3(TBC1D23):c.53+100G>A	TBC1D23	Single nucleotide variant (intron variant)	Pontocerebellar hypoplasia, type 11	GUncertain significance
Select item 1325171	NM_001199198.3(TBC1D23):c.614_615del (p.Phe205fs)	TBC1D23 (F205fs)	Deletion (frameshift variant)	Pontocerebellar hypoplasia, type 11	GLikely pathogenic
Select item 1323675	NM_001199198.3(TBC1D23):c.630del (p.Thr211fs)	TBC1D23 (T211fs)	Deletion (frameshift variant)	Pontocerebellar hypoplasia, type 11	GLikely pathogenic
Select item 1323676	NM_001199198.3(TBC1D23):c.1092+2T>A	TBC1D23	Single nucleotide variant (splice donor variant)	Pontocerebellar hypoplasia, type 11	GPathogenic
Select item 2436959	NM_001199198.3(TBC1D23):c.1505G>A (p.Arg502Lys)	TBC1D23 (R502K)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia, type 11	GUncertain significance

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