"Revvity Omics, Revvity"[submitter] AND "TBX6"[gene] - ClinVar

Format

Sort by

Choose Destination

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1323679	NM_004608.4(TBX6):c.1143dup (p.Tyr382fs)	TBX6 (Y382fs)	Duplication (frameshift variant)	Spondylocostal dysostosis 5	GPathogenic
Select item 1325177	NM_004608.4(TBX6):c.914-2A>C	TBX6	Single nucleotide variant (splice acceptor variant)	Spondylocostal dysostosis 5	GLikely pathogenic
Select item 1325178	NM_004608.4(TBX6):c.466_469dup (p.Arg157fs)	TBX6 (R157fs)	Duplication (frameshift variant)	Spondylocostal dysostosis 5 +1 more	GConflicting classifications of pathogenicity

Format

Sort by

Choose Destination

ClinVar