"TBC1D32-related disorder"[Disease/phenotype] AND "PreventionGenetics, - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3032121	NM_152730.6(TBC1D32):c.3575T>G (p.Ile1192Ser)	TBC1D32 (I1192S +1 more)	Single nucleotide variant (missense variant +1 more)	TBC1D32-related disorder	GLikely benign
Select item 737222	NM_152730.6(TBC1D32):c.3424G>T (p.Val1142Leu)	TBC1D32 (V1142L +1 more)	Single nucleotide variant (missense variant +1 more)	TBC1D32-related disorder +1 more	GLikely benign
Select item 2632969	NM_152730.6(TBC1D32):c.2545G>T (p.Glu849Ter)	TBC1D32 (E849*)	Single nucleotide variant (nonsense +1 more)	TBC1D32-related disorder	GLikely pathogenic
Select item 724958	NM_152730.6(TBC1D32):c.2215G>A (p.Ala739Thr)	TBC1D32 (A739T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign
Select item 3054658	NM_152730.6(TBC1D32):c.1733+8C>G	TBC1D32	Single nucleotide variant (intron variant)	TBC1D32-related disorder	GLikely benign
Select item 2636263	NM_152730.6(TBC1D32):c.1475C>T (p.Ser492Phe)	TBC1D32 (S492F)	Single nucleotide variant (missense variant +1 more)	TBC1D32-related disorder	GUncertain significance
Select item 1325505	NM_152730.6(TBC1D32):c.695G>A (p.Arg232Gln)	TBC1D32 (R232Q)	Single nucleotide variant (missense variant +1 more)	TBC1D32-related disorder +1 more	GConflicting classifications of pathogenicity

ClinVar