WBP11[gene] and "single gene"[properties] - ClinVar

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Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3189691	NM_016312.3(WBP11):c.1820C>T (p.Pro607Leu)	WBP11 (P607L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2231062	NM_016312.3(WBP11):c.1802_1803del (p.Glu601fs)	WBP11 (E601fs)	Microsatellite (frameshift variant)	Inborn genetic diseases	GUncertain significance
Select item 3332603	NM_016312.3(WBP11):c.1792A>G (p.Arg598Gly)	WBP11 (R598G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2508879	NM_016312.3(WBP11):c.1787C>T (p.Pro596Leu)	WBP11 (P596L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3189690	NM_016312.3(WBP11):c.1716G>C (p.Lys572Asn)	WBP11 (K572N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3332605	NM_016312.3(WBP11):c.1592C>G (p.Pro531Arg)	WBP11 (P531R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3189689	NM_016312.3(WBP11):c.1541C>A (p.Pro514His)	WBP11 (P514H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2330652	NM_016312.3(WBP11):c.1540C>A (p.Pro514Thr)	WBP11 (P514T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2610368	NM_016312.3(WBP11):c.1526C>A (p.Pro509Gln)	WBP11 (P509Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2622826	NM_016312.3(WBP11):c.1493G>T (p.Gly498Val)	WBP11 (G498V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2642757	NM_016312.3(WBP11):c.1397G>A (p.Arg466Gln)	WBP11 (R466Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3027289	NM_016312.3(WBP11):c.1396C>T (p.Arg466Ter)	WBP11 (R466*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3189688	NM_016312.3(WBP11):c.1352G>A (p.Arg451Gln)	WBP11 (R451Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2642758	NM_016312.3(WBP11):c.1213C>T (p.Pro405Ser)	WBP11 (P405S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2642759	NM_016312.3(WBP11):c.1203G>C (p.Gln401His)	WBP11 (Q401H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2635436	NM_016312.3(WBP11):c.1192C>G (p.Pro398Ala)	WBP11 (P398A)	Single nucleotide variant (missense variant)	WBP11-related disorder	GUncertain significance
Select item 2219338	NM_016312.3(WBP11):c.1181C>T (p.Pro394Leu)	WBP11 (P394L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2398314	NM_016312.3(WBP11):c.1148C>T (p.Thr383Ile)	WBP11 (T383I)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2286124	NM_016312.3(WBP11):c.1104G>C (p.Lys368Asn)	WBP11 (K368N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3189687	NM_016312.3(WBP11):c.1093G>A (p.Glu365Lys)	WBP11 (E365K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2298914	NM_016312.3(WBP11):c.1039C>T (p.Arg347Trp)	WBP11 (R347W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3339636	NM_016312.3(WBP11):c.976G>A (p.Glu326Lys)	WBP11 (E326K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2361327	NM_016312.3(WBP11):c.925C>T (p.Arg309Trp)	WBP11 (R309W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2592772	NM_016312.3(WBP11):c.871C>T (p.Arg291Cys)	WBP11 (R291C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3189694	NM_016312.3(WBP11):c.868C>T (p.His290Tyr)	WBP11 (H290Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2474242	NM_016312.3(WBP11):c.758G>A (p.Ser253Asn)	WBP11 (S253N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3251108	NM_016312.3(WBP11):c.734ATG[3] (p.Asp248del)	WBP11 (D248del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2362324	NM_016312.3(WBP11):c.742G>A (p.Asp248Asn)	WBP11 (D248N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3189693	NM_016312.3(WBP11):c.706T>C (p.Tyr236His)	WBP11 (Y236H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 917485	NM_016312.3(WBP11):c.688C>T (p.Arg230Ter)	WBP11 (R230*)	Single nucleotide variant (nonsense)	WBP11 spliceosomopathy	GPathogenic
Select item 3332602	NM_016312.3(WBP11):c.585del (p.Gly196fs)	WBP11 (G196fs)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 3189692	NM_016312.3(WBP11):c.574C>A (p.Arg192Ser)	WBP11 (R192S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2547166	NM_016312.3(WBP11):c.572C>T (p.Pro191Leu)	WBP11 (P191L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2360643	NM_016312.3(WBP11):c.556C>G (p.Leu186Val)	WBP11 (L186V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
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 2236337	NM_016312.3(WBP11):c.509C>T (p.Thr170Ile)	WBP11 (T170I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2364934	NM_016312.3(WBP11):c.431T>C (p.Met144Thr)	WBP11 (M144T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1238696	NM_016312.3(WBP11):c.387+11dup	WBP11	Duplication (intron variant)	not provided	GBenign
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 917482	NM_016312.3(WBP11):c.280C>T (p.Arg94Ter)	WBP11 (R94*)	Single nucleotide variant (nonsense)	WBP11 spliceosomopathy	GLikely pathogenic
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 2635608	NM_016312.3(WBP11):c.191-8_191-3del	WBP11	Deletion (intron variant)	WBP11-related disorder	GUncertain significance
Select item 3337741	NM_016312.3(WBP11):c.64+1G>A	WBP11	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic

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Items: 47