"Fulgent Genetics, Fulgent Genetics"[submitter] AND "TBCD"[gene] - ClinVar

Format

Sort by

Choose Destination

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 423874	NM_005993.5(TBCD):c.880C>T (p.Arg294Trp)	TBCD (R294W)	Single nucleotide variant (missense variant)	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome +1 more	GConflicting classifications of pathogenicity
Select item 268167	NM_005993.5(TBCD):c.2314C>T (p.Arg772Cys)	TBCD (R772C)	Single nucleotide variant (missense variant)	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome	GLikely pathogenic

ClinVar