"TBC1D31-related condition"[Disease/phenotype] AND "PreventionGenetics - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3032699	NM_145647.4(TBC1D31):c.381A>G (p.Ser127=)	TBC1D31	Single nucleotide variant (synonymous variant +1 more)	TBC1D31-related condition	GLikely benign
Select item 3048796	NM_145647.4(TBC1D31):c.545C>T (p.Thr182Ile)	TBC1D31 (T172I +2 more)	Single nucleotide variant (missense variant +1 more)	TBC1D31-related condition	GLikely benign
Select item 3049432	NM_145647.4(TBC1D31):c.1325A>G (p.Glu442Gly)	TBC1D31 (E337G +2 more)	Single nucleotide variant (missense variant +1 more)	TBC1D31-related condition	GLikely benign
Select item 3047261	NM_145647.4(TBC1D31):c.1372G>A (p.Ala458Thr)	TBC1D31 (A353T +3 more)	Single nucleotide variant (missense variant +1 more)	TBC1D31-related condition	GLikely benign
Select item 2636513	NM_145647.4(TBC1D31):c.1463C>G (p.Ser488Cys)	TBC1D31 (S383C +2 more)	Single nucleotide variant (missense variant +1 more)	TBC1D31-related condition	GUncertain significance
Select item 3046776	NM_145647.4(TBC1D31):c.1705-7G>A	TBC1D31	Single nucleotide variant (intron variant)	TBC1D31-related condition	GLikely benign
Select item 3031869	NM_145647.4(TBC1D31):c.2271-9G>A	TBC1D31	Single nucleotide variant (intron variant)	TBC1D31-related condition	GLikely benign
Select item 3032637	NM_001363151.2(TBC1D31):c.2829C>T (p.His943=)	TBC1D31	Single nucleotide variant (synonymous variant)	TBC1D31-related condition	GBenign
Select item 3040131	NM_001363151.2(TBC1D31):c.2939T>C (p.Ile980Thr)	TBC1D31 (I980T)	Single nucleotide variant (missense variant)	TBC1D31-related condition	GLikely benign