ClinVar for Gene (Select 51729) - ClinVar

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Items: 90

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3251108	NM_016312.3(WBP11):c.734ATG[3] (p.Asp248del)	WBP11 (D248del)	Microsatellite (inframe_deletion)	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 3189694	NM_016312.3(WBP11):c.868C>T (p.His290Tyr)	WBP11 (H290Y)	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 3189692	NM_016312.3(WBP11):c.574C>A (p.Arg192Ser)	WBP11 (R192S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3189690	NM_016312.3(WBP11):c.1716G>C (p.Lys572Asn)	WBP11 (K572N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3189688	NM_016312.3(WBP11):c.1352G>A (p.Arg451Gln)	WBP11 (R451Q)	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 3063250	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835641)x3	A2M, A2ML1 +278 more	Copy number gain	not specified	GPathogenic
Select item 3027289	NM_016312.3(WBP11):c.1396C>T (p.Arg466Ter)	WBP11 (R466*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2671607	Single allele	FGD4, FGF23 +278 more	Duplication	not provided	GPathogenic
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 2642758	NM_016312.3(WBP11):c.1213C>T (p.Pro405Ser)	WBP11 (P405S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 2635608	NM_016312.3(WBP11):c.191-8_191-3del	WBP11	Deletion (intron variant)	WBP11-related disorder	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 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 2622826	NM_016312.3(WBP11):c.1493G>T (p.Gly498Val)	WBP11 (G498V)	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 2592772	NM_016312.3(WBP11):c.871C>T (p.Arg291Cys)	WBP11 (R291C)	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 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 2547166	NM_016312.3(WBP11):c.572C>T (p.Pro191Leu)	WBP11 (P191L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2528074	NM_016312.3(WBP11):c.937A>G (p.Met313Val)	WBP11 (M313V)	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 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 2474242	NM_016312.3(WBP11):c.758G>A (p.Ser253Asn)	WBP11 (S253N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2445417	GRCh37/hg19 12p13.33-11.1(chr12:176047-34179852)x4	DENND5B, DERA +278 more	Copy number gain	Pallister-Killian syndrome	GPathogenic
Select item 2398314	NM_016312.3(WBP11):c.1148C>T (p.Thr383Ile)	WBP11 (T383I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
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 2362324	NM_016312.3(WBP11):c.742G>A (p.Asp248Asn)	WBP11 (D248N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2360643	NM_016312.3(WBP11):c.556C>G (p.Leu186Val)	WBP11 (L186V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
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 2298914	NM_016312.3(WBP11):c.1039C>T (p.Arg347Trp)	WBP11 (R347W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2236337	NM_016312.3(WBP11):c.509C>T (p.Thr170Ile)	WBP11 (T170I)	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 2219338	NM_016312.3(WBP11):c.1181C>T (p.Pro394Leu)	WBP11 (P394L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 1711362	GRCh37/hg19 12p13.2-12.1(chr12:10853887-24103810)x1	FAM234B, GOLT1B +85 more	Copy number loss	not provided	GPathogenic
Select item 1527672	GRCh37/hg19 12p13.33-q11(chr12:173786-37869301)	C3AR1, CACNA1C +278 more	Copy number gain	not specified	GPathogenic
Select item 1527671	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)	A2M, A2ML1 +278 more	Copy number gain	not specified	GPathogenic
Select item 1527669	GRCh37/hg19 12p13.33-12.1(chr12:173786-25286865)	A2ML1, ABCC9 +235 more	Copy number gain	not specified	GPathogenic
Select item 1440295	NC_000012.11:g.(?_14849146)_(15669910_?)dup	ARHGDIB, ART4 +11 more	Duplication	not provided	GUncertain significance
Select item 1436741	NC_000012.11:g.(?_11803062)_(15835885_?)dup	APOLD1, ARHGDIB +32 more	Duplication	Developmental and epileptic encephalopathy, 27 +1 more	GUncertain significance
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 1238696	NM_016312.3(WBP11):c.387+11dup	WBP11	Duplication (intron variant)	not provided	GBenign
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 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 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 (R94*)	Single nucleotide variant (nonsense)	WBP11 spliceosomopathy	GLikely pathogenic
Select item 815505	GRCh37/hg19 12p13.2-12.3(chr12:11737824-16780886)x1	APOLD1, ARHGDIB +37 more	Copy number loss	not provided	GPathogenic
Select item 815493	GRCh37/hg19 12p13.33-q11(chr12:274676-37869301)x4	ART4, DYRK4 +278 more	Copy number gain	not provided	GPathogenic
Select item 686501	GRCh37/hg19 12p13.33-11.1(chr12:173786-34496628)x3	CLEC1B, CLEC2A +278 more	Copy number gain	not provided	GPathogenic
Select item 625809	GRCh37/hg19 12p13.33-12.3(chr12:189216-15001420)	A2M, A2ML1 +193 more	Copy number gain	not provided	GPathogenic
Select item 563991	GRCh37/hg19 12p13.33-q11(chr12:173786-37869107)x3	A2M, A2ML1 +278 more	Copy number gain	not provided	GPathogenic
Select item 563990	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x3	A2M, A2ML1 +278 more	Copy number gain	not provided	GPathogenic
Select item 563989	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x2,3	A2M, A2ML1 +278 more	Copy number gain	not provided	GPathogenic
Select item 443532	GRCh37/hg19 12p13.33-11.22(chr12:173786-28219229)x3	A2M, A2ML1 +256 more	Copy number gain	See cases	GPathogenic
Select item 442150	GRCh37/hg19 12p13.33-11.1(chr12:565369-34835837)x3	KCNA6, KCNJ8 +273 more	Copy number gain	See cases	GLikely pathogenic
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	DBX2, DCD +1006 more	Copy number gain	See cases	GPathogenic
Select item 395673	GRCh37/hg19 12p13.33-11.1(chr12:189578-34756150)	A2M, A2ML1 +278 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	AGAP2, ARF3 +1007 more	Copy number gain	See cases	GPathogenic
Select item 253582	GRCh37/hg19 12p13.33-11.1(chr12:148034-34178799)x4	ACSM4, CCND2 +278 more	Copy number gain	See cases	GPathogenic
Select item 253493	GRCh37/hg19 12p13.33-11.1(chr12:89061-34178799)x3	A2M, A2ML1 +278 more	Copy number gain	See cases	GPathogenic
Select item 221369	chr12:10074776-18800953 complex variant	APOLD1, ARHGDIB +79 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 154815	GRCh38/hg38 12p13.2-12.3(chr12:11121039-15908154)x1	APOLD1, ARHGDIB +238 more	Copy number loss	See cases	GLikely pathogenic
Select item 153962	GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4	CLEC12A, CLEC12A-AS1 +1258 more	Copy number gain	See cases	GPathogenic
Select item 153563	GRCh38/hg38 12p13.33-12.2(chr12:1258274-20657577)x3	A2M, A2M-AS1 +853 more	Copy number gain	See cases	GPathogenic
Select item 151004	GRCh38/hg38 12p13.33-11.1(chr12:54427-34608071)x4	TAS2R9, TEAD4 +1258 more	Copy number gain	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC130008916, LOC130008917 +4836 more	Copy number gain	See cases	GPathogenic
Select item 150158	GRCh38/hg38 12p13.33-11.1(chr12:121271-34603261)x3	LOC126861494, LOC126861495 +1257 more	Copy number gain	See cases	GPathogenic
Select item 148626	GRCh38/hg38 12p13.33-12.3(chr12:2871741-14987348)x3	LOC130007190, LOC130007191 +698 more	Copy number gain	See cases	GPathogenic
Select item 147419	GRCh38/hg38 12p13.33-11.1(chr12:121255-34603274)x3	LOC130007230, LOC130007231 +1257 more	Copy number gain	See cases	GPathogenic
Select item 146005	GRCh38/hg38 12p13.2-12.3(chr12:12363649-15280588)x1	APOLD1, ARHGDIB +137 more	Copy number loss	See cases	GPathogenic
Select item 59799	GRCh38/hg38 12p13.33-11.1(chr12:212976-33926913)x4	CACNA1C-AS2, CACNA1C-AS4 +1242 more	Copy number gain	See cases	GPathogenic
Select item 59795	GRCh38/hg38 12p13.33-12.1(chr12:80412-25470329)x3	A2M, A2M-AS1 +1009 more	Copy number gain	See cases	GPathogenic
Select item 59794	GRCh38/hg38 12p13.33-11.1(chr12:77187-34380176)x3	LOC126861410, LOC126861411 +1258 more	Copy number gain	See cases	GPathogenic
Select item 58986	GRCh38/hg38 12p13.2-12.3(chr12:12388842-15540422)x1	APOLD1, ARHGDIB +140 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 90