"WBP11 spliceosomopathy"[Disease/phenotype] AND "Embryology Laboratory - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 917485	NM_016312.3(WBP11):c.688C>T (p.Arg230Ter)	WBP11, C12orf60 (R230*)	Single nucleotide variant (nonsense)	WBP11 spliceosomopathy	GPathogenic
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 917483	NM_016312.3(WBP11):c.484C>T (p.Gln162Ter)	WBP11, C12orf60 (Q162*)	Single nucleotide variant (nonsense)	WBP11 spliceosomopathy	GPathogenic
Select item 917482	NM_016312.3(WBP11):c.280C>T (p.Arg94Ter)	WBP11, C12orf60 (R94*)	Single nucleotide variant (nonsense)	WBP11 spliceosomopathy	GLikely pathogenic
Select item 917487	NM_016312.3(WBP11):c.169A>G (p.Met57Val)	WBP11, C12orf60 (M57V)	Single nucleotide variant (missense variant)	WBP11 spliceosomopathy	GUncertain significance

ClinVar