"Ambry Genetics"[submitter] AND "TBC1D23"[gene] - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2357482	NM_001199198.3(TBC1D23):c.119T>C (p.Ile40Thr)	TBC1D23 (I40T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2592528	NM_001199198.3(TBC1D23):c.232G>A (p.Glu78Lys)	TBC1D23 (E78K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2590459	NM_001199198.3(TBC1D23):c.249C>G (p.His83Gln)	TBC1D23 (H83Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2266843	NM_001199198.3(TBC1D23):c.272-5T>C	TBC1D23	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 2214103	NM_001199198.3(TBC1D23):c.298G>A (p.Ala100Thr)	TBC1D23 (A100T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2388711	NM_001199198.3(TBC1D23):c.406G>A (p.Val136Met)	TBC1D23 (V136M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2288000	NM_001199198.3(TBC1D23):c.424C>T (p.Arg142Cys)	TBC1D23 (R142C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2405740	NM_001199198.3(TBC1D23):c.430G>A (p.Asp144Asn)	TBC1D23 (D144N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2510512	NM_001199198.3(TBC1D23):c.454A>G (p.Ile152Val)	TBC1D23 (I152V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2230855	NM_001199198.3(TBC1D23):c.679C>G (p.Pro227Ala)	TBC1D23 (P227A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2605036	NM_001199198.3(TBC1D23):c.721G>C (p.Ala241Pro)	TBC1D23 (A241P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2337173	NM_001199198.3(TBC1D23):c.794C>G (p.Ser265Cys)	TBC1D23 (S265C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2279678	NM_001199198.3(TBC1D23):c.860C>T (p.Pro287Leu)	TBC1D23 (P287L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2386615	NM_001199198.3(TBC1D23):c.983C>T (p.Ala328Val)	TBC1D23 (A328V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2251512	NM_001199198.3(TBC1D23):c.1021G>T (p.Val341Leu)	TBC1D23 (V341L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2324970	NM_001199198.3(TBC1D23):c.1072T>C (p.Phe358Leu)	TBC1D23 (F358L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2510970	NM_001199198.3(TBC1D23):c.1175T>C (p.Ile392Thr)	TBC1D23 (I392T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2602409	NM_001199198.3(TBC1D23):c.1275A>C (p.Glu425Asp)	TBC1D23 (E425D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 595732	NM_001199198.3(TBC1D23):c.1286T>C (p.Ile429Thr)	TBC1D23 (I429T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2309581	NM_001199198.3(TBC1D23):c.1291A>G (p.Ser431Gly)	TBC1D23 (S431G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2393511	NM_001199198.3(TBC1D23):c.1345C>T (p.Pro449Ser)	TBC1D23 (P449S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2337912	NM_001199198.3(TBC1D23):c.1424C>T (p.Pro475Leu)	TBC1D23 (P475L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2538711	NM_001199198.3(TBC1D23):c.1466A>G (p.Lys489Arg)	TBC1D23 (K489R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2276012	NM_001199198.3(TBC1D23):c.1642G>A (p.Val548Ile)	TBC1D23 (V548I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2612399	NM_001199198.3(TBC1D23):c.1661T>C (p.Ile554Thr)	TBC1D23 (I554T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2525958	NM_001199198.3(TBC1D23):c.1674A>C (p.Glu558Asp)	TBC1D23 (E558D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2386802	NM_001199198.3(TBC1D23):c.1783C>T (p.Pro595Ser)	TBC1D23 (P580S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2258776	NM_001199198.3(TBC1D23):c.1892A>G (p.Tyr631Cys)	TBC1D23 (Y631C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2472206	NM_001199198.3(TBC1D23):c.2008G>T (p.Ala670Ser)	TBC1D23 (A655S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2277785	NM_001199198.3(TBC1D23):c.2019-5C>T	TBC1D23	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance

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Items: 31