"OMIM"[submitter] AND "TBC1D8B"[gene] - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1013502	NM_017752.3(TBC1D8B):c.190C>T (p.Arg64Cys)	TBC1D8B (R64C)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 20	GPathogenic
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
Select item 1013503	NM_017752.3(TBC1D8B):c.1383G>A (p.Trp461Ter)	TBC1D8B (W461*)	Single nucleotide variant (nonsense)	Nephrotic syndrome, type 20	GPathogenic
Select item 1013501	NM_017752.3(TBC1D8B):c.2338A>T (p.Thr780Ser)	TBC1D8B (T780S)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 20	GPathogenic

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