Related gene-specific medical variations for Gene (Select 51729) - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3360428	NM_016312.3(WBP11):c.445T>C (p.Ser149Pro)	WBP11 (S149P)	Single nucleotide variant (missense variant)	not provided	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 2582227	NM_016312.3(WBP11):c.1521dup (p.Arg508fs)	WBP11 (R508fs)	Duplication (frameshift variant)	Vertebral, cardiac, tracheoesophageal, renal, and limb defects	GPathogenic
Select item 2576951	NM_016312.3(WBP11):c.1237_1251del (p.Leu413_Pro417del)	C12orf60, WBP11	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2574865	NM_016312.3(WBP11):c.1298G>T (p.Gly433Val)	C12orf60, WBP11 (G433V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2574509	NM_016312.3(WBP11):c.972G>A (p.Met324Ile)	C12orf60, WBP11 (M324I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2574283	NM_016312.3(WBP11):c.280C>G (p.Arg94Gly)	C12orf60, WBP11 (R94G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2500508	NM_016312.3(WBP11):c.99C>G (p.Asn33Lys)	WBP11, C12orf60 (N33K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2499866	NM_016312.3(WBP11):c.386A>G (p.Lys129Arg)	C12orf60, WBP11 (K129R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1712127	NM_016312.3(WBP11):c.1505C>T (p.Pro502Leu)	WBP11, C12orf60 (P502L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 917487	NM_016312.3(WBP11):c.169A>G (p.Met57Val)	WBP11, C12orf60 (M57V)	Single nucleotide variant (missense variant)	WBP11 spliceosomopathy	GUncertain significance
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