Related gene-specific medical variations for Gene (Select 54885) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2436966	NM_017752.3(TBC1D8B):c.163G>A (p.Asp55Asn)	TBC1D8B (D55N)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 20	GUncertain significance
Select item 1344699	NM_017752.3(TBC1D8B):c.1030C>T (p.Arg344Ter)	TBC1D8B (R344*)	Single nucleotide variant (nonsense)	Nephrotic syndrome, type 20	GUncertain significance
Select item 100867	NM_017752.3(TBC1D8B):c.528T>C (p.Gly176=)	TBC1D8B	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance

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