"Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine"[submitter - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 188054	NM_004608.4(TBX6):c.1250dup (p.Leu419fs)	TBX6 (L419fs)	Duplication (frameshift variant)	Spondylocostal dysostosis 5	GPathogenic
Select item 252362	NM_004608.4(TBX6):c.1179_1180del (p.Gly395fs)	TBX6 (G395fs)	Deletion (frameshift variant)	Spondylocostal dysostosis 5	GPathogenic
Select item 243054	NM_004608.4(TBX6):c.1169dup (p.His391fs)	TBX6 (H391fs)	Duplication (frameshift variant)	Spondylocostal dysostosis 5	GPathogenic
Select item 188052	NM_004608.4(TBX6):c.844C>T (p.Arg282Ter)	TBX6 (R282*)	Single nucleotide variant (nonsense)	Spondylocostal dysostosis 5	GPathogenic
Select item 243053	NM_004608.4(TBX6):c.704dup (p.Met236fs)	TBX6 (M236fs)	Duplication (frameshift variant)	Spondylocostal dysostosis 5	GPathogenic
Select item 188055	NM_004608.4(TBX6):c.266dup (p.Val91fs)	TBX6 (V91fs)	Duplication (frameshift variant)	Spondylocostal dysostosis 5	GPathogenic
Select item 243052	Single allele	TBX6, YPEL3 +25 more	Deletion	Spondylocostal dysostosis 5	GPathogenic

ClinVar