"Baylor Genetics"[submitter] AND "TBC1D23"[gene] - ClinVar - NCBI

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Items: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1029244	NM_001199198.3(TBC1D23):c.170C>T (p.Ala57Val)	TBC1D23 (A57V)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia, type 11	GUncertain significance
Select item 1031926	NM_001199198.3(TBC1D23):c.538C>T (p.Pro180Ser)	TBC1D23 (P180S)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia, type 11	GUncertain significance
Select item 1029243	NM_001199198.3(TBC1D23):c.1327G>A (p.Asp443Asn)	TBC1D23 (D443N)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia, type 11	GUncertain significance
Select item 1031925	NM_001199198.3(TBC1D23):c.1883G>T (p.Gly628Val)	TBC1D23 (G613V +1 more)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia, type 11	GUncertain significance

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