"SIB Swiss Institute of Bioinformatics"[submitter] AND "TBC1D8B"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 635779	NM_017752.3(TBC1D8B):c.738G>C (p.Gln246His)	TBC1D8B (Q246H)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 20	GLikely pathogenic
Select item 635780	NM_017752.3(TBC1D8B):c.872T>C (p.Phe291Ser)	TBC1D8B (F291S)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 20	GLikely pathogenic