"GeneDx"[submitter] AND "TBC1D23"[gene] - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145994	GRCh38/hg38 3q11.1-13.31(chr3:93819623-116887056)x1	ABHD10, ABI3BP +431 more	Copy number loss	See cases	GPathogenic
Select item 57803	GRCh38/hg38 3q11.1-21.1(chr3:93886671-123216683)x1	TRAT1, TRMT10C +638 more	Copy number loss	See cases	GPathogenic
Select item 1695576	NM_001199198.3(TBC1D23):c.424C>A (p.Arg142Ser)	TBC1D23 (R142S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1251837	NM_001199198.3(TBC1D23):c.876+27G>T	TBC1D23	Single nucleotide variant (intron variant)	Pontocerebellar hypoplasia, type 11 +1 more	GBenign
Select item 1263919	NM_001199198.3(TBC1D23):c.876+47C>T	TBC1D23	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290518	NM_001199198.3(TBC1D23):c.876+141del	TBC1D23	Deletion (intron variant)	not provided	GBenign
Select item 1266317	NM_001199198.3(TBC1D23):c.877-218dup	TBC1D23	Duplication (intron variant)	not provided	GBenign
Select item 2316933	NM_001199198.3(TBC1D23):c.1029C>A (p.Cys343Ter)	TBC1D23 (C343*)	Single nucleotide variant (nonsense)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1695858	NM_001199198.3(TBC1D23):c.1031G>A (p.Arg344His)	TBC1D23 (R344H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1181396	NM_001199198.3(TBC1D23):c.1306+201T>A	TBC1D23	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288065	NM_001199198.3(TBC1D23):c.1413+224del	TBC1D23	Deletion (intron variant)	not provided	GBenign
Select item 1247853	NM_001199198.3(TBC1D23):c.1414-74A>G	TBC1D23	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1181187	NM_001199198.3(TBC1D23):c.1599-94A>T	TBC1D23	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269167	NM_001199198.3(TBC1D23):c.1688-118G>C	TBC1D23	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1806653	NM_001199198.3(TBC1D23):c.1801G>T (p.Glu601Ter)	TBC1D23 (E586* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1222634	NM_001199198.3(TBC1D23):c.1823+180T>C	TBC1D23	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1182269	NM_001199198.3(TBC1D23):c.1823+235dup	TBC1D23	Duplication (intron variant)	not provided	GBenign