ClinVar for MedGen (Select 1788069) - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3376466	NM_016312.3(WBP11):c.1067A>G (p.Asp356Gly)	WBP11 (D356G)	Single nucleotide variant (missense variant)	Vertebral, cardiac, tracheoesophageal, renal, and limb defects	GUncertain significance
Select item 3251108	NM_016312.3(WBP11):c.734ATG[3] (p.Asp248del)	WBP11 (D248del)	Microsatellite (inframe_deletion)	not provided +1 more	GUncertain significance
Select item 3238834	NM_016312.3(WBP11):c.914G>T (p.Gly305Val)	WBP11 (G305V)	Single nucleotide variant (missense variant)	Vertebral, cardiac, tracheoesophageal, renal, and limb defects	GUncertain significance
Select item 3236610	NM_016312.3(WBP11):c.533G>A (p.Arg178Gln)	WBP11 (R178Q)	Single nucleotide variant (missense variant)	Vertebral, cardiac, tracheoesophageal, renal, and limb defects	GUncertain significance
Select item 2627374	NM_016312.3(WBP11):c.251dup (p.Leu85fs)	WBP11 (L85fs)	Duplication (frameshift variant)	Vertebral, cardiac, tracheoesophageal, renal, and limb defects	GLikely pathogenic
Select item 2582227	NM_016312.3(WBP11):c.1521dup (p.Arg508fs)	WBP11 (R508fs)	Duplication (frameshift variant)	Vertebral, cardiac, tracheoesophageal, renal, and limb defects	GPathogenic
Select item 2528074	NM_016312.3(WBP11):c.937A>G (p.Met313Val)	WBP11 (M313V)	Single nucleotide variant (missense variant)	Vertebral, cardiac, tracheoesophageal, renal, and limb defects +1 more	GConflicting classifications of pathogenicity
Select item 1308645	NM_016312.3(WBP11):c.331G>T (p.Glu111Ter)	WBP11 (E111*)	Single nucleotide variant (nonsense)	Vertebral, cardiac, tracheoesophageal, renal, and limb defects	GLikely pathogenic
Select item 917486	NM_016312.3(WBP11):c.612del (p.Gly205fs)	WBP11, C12orf60 (G205fs)	Deletion (frameshift variant)	Vertebral, cardiac, tracheoesophageal, renal, and limb defects +1 more	GLikely pathogenic
Select item 917485	NM_016312.3(WBP11):c.688C>T (p.Arg230Ter)	WBP11 (R230*)	Single nucleotide variant (nonsense)	WBP11 spliceosomopathy	GPathogenic
Select item 917484	NM_016312.3(WBP11):c.1559dup (p.Gly521fs)	WBP11 (G521fs)	Duplication (frameshift variant)	Vertebral, cardiac, tracheoesophageal, renal, and limb defects +1 more	GPathogenic
Select item 917482	NM_016312.3(WBP11):c.280C>T (p.Arg94Ter)	WBP11 (R94*)	Single nucleotide variant (nonsense)	WBP11 spliceosomopathy	GLikely pathogenic