ClinVar for Gene (Select 9724) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3339549	NC_000013.10:g.(?_52586533)_(52607737_?)del	ALG11, UTP14C	Deletion	ALG11-congenital disorder of glycosylation	GPathogenic
Select item 3331709	NM_021645.6(UTP14C):c.2140A>G (p.Lys714Glu)	ALG11, UTP14C (K714E)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3331708	NM_021645.6(UTP14C):c.87A>C (p.Glu29Asp)	ALG11, UTP14C (E29D)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3331707	NM_021645.6(UTP14C):c.986A>G (p.Asn329Ser)	ALG11, UTP14C (N329S)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3331706	NM_021645.6(UTP14C):c.1894G>A (p.Glu632Lys)	ALG11, UTP14C (E632K)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3331705	NM_021645.6(UTP14C):c.718G>A (p.Ala240Thr)	ALG11, UTP14C (A240T)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3331703	NM_021645.6(UTP14C):c.526G>C (p.Gly176Arg)	ALG11, UTP14C (G176R)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3331702	NM_021645.6(UTP14C):c.688C>T (p.Arg230Trp)	ALG11, UTP14C (R230W)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3331701	NM_021645.6(UTP14C):c.1726C>T (p.Pro576Ser)	ALG11, UTP14C (P576S)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3284016	NM_001004127.3(ALG11):c.1363A>T (p.Met455Leu)	ALG11, UTP14C (M455L)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 3255372	NM_001004127.3(ALG11):c.1307G>T (p.Gly436Val)	ALG11, UTP14C (G436V)	Single nucleotide variant (missense variant +2 more)	ALG11-congenital disorder of glycosylation	GLikely pathogenic
Select item 3255371	NM_001004127.3(ALG11):c.1403G>A (p.Arg468His)	ALG11, UTP14C (R468H)	Single nucleotide variant (missense variant +2 more)	ALG11-congenital disorder of glycosylation	GLikely pathogenic
Select item 3187889	NM_021645.6(UTP14C):c.554A>G (p.Gln185Arg)	ALG11, UTP14C (Q185R)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3187888	NM_021645.6(UTP14C):c.467T>C (p.Leu156Pro)	ALG11, UTP14C (L156P)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3187887	NM_021645.6(UTP14C):c.2075G>A (p.Arg692Gln)	ALG11, UTP14C (R692Q)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3187886	NM_021645.6(UTP14C):c.1970C>T (p.Pro657Leu)	ALG11, UTP14C (P657L)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3187885	NM_021645.6(UTP14C):c.1122G>T (p.Met374Ile)	ALG11, UTP14C (M374I)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3148943	GRCh37/hg19 13q14.2-14.3(chr13:50181731-54350061)x1	ALG11, ARL11 +29 more	Copy number loss	not provided	GUncertain significance
Select item 3063311	GRCh37/hg19 13q13.2-21.1(chr13:35015723-59553519)x3	AKAP11, ALG11 +117 more	Copy number gain	not specified	GPathogenic
Select item 3063292	GRCh37/hg19 13q14.3(chr13:52580525-52708844)x1	ALG11, ATP7B +3 more	Copy number loss	not specified	GUncertain significance
Select item 3063283	GRCh37/hg19 13q14.11-21.2(chr13:44076923-60520078)x1	ALG11, ARL11 +77 more	Copy number loss	not specified	GPathogenic
Select item 3063279	GRCh37/hg19 13q14.2-32.2(chr13:49547974-98214905)x1	ABCC4, ACOD1 +102 more	Copy number loss	not specified	GPathogenic
Select item 3024581	GRCh37/hg19 13q13.2-21.2(chr13:34884647-61309742)x1	ITM2B, KBTBD6 +119 more	Copy number loss	not provided	GPathogenic
Select item 2921018	NM_021645.6(UTP14C):c.1781T>C (p.Ile594Thr)	ALG11, UTP14C (I594T)	Single nucleotide variant (3 prime UTR variant +2 more)	ALG11-congenital disorder of glycosylation	GUncertain significance
Select item 2825149	NM_001004127.3(ALG11):c.1462G>T (p.Glu488Ter)	ALG11, UTP14C (E488*)	Single nucleotide variant (nonsense +2 more)	ALG11-congenital disorder of glycosylation	GUncertain significance
Select item 2770727	NM_001004127.3(ALG11):c.1220G>T (p.Cys407Phe)	ALG11, UTP14C (C407F)	Single nucleotide variant (missense variant +2 more)	ALG11-congenital disorder of glycosylation	GUncertain significance
Select item 2685465	GRCh37/hg19 13q14.3(chr13:51768837-54900165)x1	ALG11, ATP7B +18 more	Copy number loss	not provided	GUncertain significance
Select item 2672260	NM_001004127.3(ALG11):c.1036C>T (p.Arg346Cys)	ALG11, UTP14C (R346C)	Single nucleotide variant (missense variant +1 more)	ALG11-congenital disorder of glycosylation	GUncertain significance
Select item 2607867	NM_021645.6(UTP14C):c.1880T>C (p.Leu627Pro)	ALG11, UTP14C (L627P)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2607673	NM_021645.6(UTP14C):c.778G>T (p.Ala260Ser)	ALG11, UTP14C (A260S)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2597400	NM_021645.6(UTP14C):c.2014C>T (p.Arg672Cys)	ALG11, UTP14C (R672C)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2597058	NM_021645.6(UTP14C):c.1109C>T (p.Pro370Leu)	ALG11, UTP14C (P370L)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2596090	NM_021645.6(UTP14C):c.1850C>T (p.Ala617Val)	ALG11, UTP14C (A617V)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2539832	NM_021645.6(UTP14C):c.1025G>A (p.Ser342Asn)	ALG11, UTP14C (S342N)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2539803	NM_021645.6(UTP14C):c.1058A>G (p.Glu353Gly)	ALG11, UTP14C (E353G)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2533754	NM_001004127.3(ALG11):c.1291G>A (p.Glu431Lys)	ALG11, UTP14C (E431K)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2516718	NM_021645.6(UTP14C):c.664C>G (p.His222Asp)	ALG11, UTP14C (H222D)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2488886	NM_021645.6(UTP14C):c.860A>T (p.Asn287Ile)	ALG11, UTP14C (N287I)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2460879	NM_021645.6(UTP14C):c.2276G>A (p.Arg759His)	ALG11, UTP14C (R759H)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2422253	NC_000013.10:g.(?_51484213)_(52602726_?)dup	ALG11, ATP7B +8 more	Duplication	Wilson disease	GUncertain significance
Select item 2379901	NM_021645.6(UTP14C):c.2275C>T (p.Arg759Cys)	ALG11, UTP14C (R759C)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2372608	NM_021645.6(UTP14C):c.1468C>A (p.Pro490Thr)	ALG11, UTP14C (P490T)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2368373	NM_021645.6(UTP14C):c.145A>G (p.Ile49Val)	ALG11, UTP14C (I49V)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2349555	NM_021645.6(UTP14C):c.668G>A (p.Arg223Gln)	ALG11, UTP14C (R223Q)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2345570	NM_021645.6(UTP14C):c.1038G>C (p.Glu346Asp)	ALG11, UTP14C (E346D)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2342439	NM_021645.6(UTP14C):c.642G>A (p.Met214Ile)	ALG11, UTP14C (M214I)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2304514	NM_021645.6(UTP14C):c.1111A>G (p.Asn371Asp)	ALG11, UTP14C (N371D)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2298590	NM_021645.6(UTP14C):c.1702C>T (p.Pro568Ser)	ALG11, UTP14C (P568S)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2296277	NM_021645.6(UTP14C):c.121A>G (p.Lys41Glu)	ALG11, UTP14C (K41E)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2294295	NM_021645.6(UTP14C):c.2066C>T (p.Thr689Ile)	ALG11, UTP14C (T689I)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2268828	NM_021645.6(UTP14C):c.1864G>T (p.Asp622Tyr)	ALG11, UTP14C (D622Y)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2266119	NM_021645.6(UTP14C):c.542C>T (p.Thr181Ile)	ALG11, UTP14C (T181I)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2258528	NM_021645.6(UTP14C):c.1144A>C (p.Thr382Pro)	ALG11, UTP14C (T382P)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2242777	NM_001004127.3(ALG11):c.1267A>G (p.Lys423Glu)	ALG11, UTP14C (K423E)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2223620	NM_021645.6(UTP14C):c.704A>G (p.Tyr235Cys)	ALG11, UTP14C (Y235C)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2220814	NM_021645.6(UTP14C):c.1072C>T (p.His358Tyr)	ALG11, UTP14C (H358Y)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2216963	NM_021645.6(UTP14C):c.1384T>C (p.Ser462Pro)	ALG11, UTP14C (S462P)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2073974	NM_001004127.3(ALG11):c.1476_1479del (p.Lys492fs)	ALG11, UTP14C (K492fs)	Deletion (frameshift variant +2 more)	ALG11-congenital disorder of glycosylation	GUncertain significance
Select item 1715491	NM_001004127.3(ALG11):c.1273G>A (p.Asp425Asn)	ALG11, UTP14C (D425N)	Single nucleotide variant (missense variant +2 more)	ALG11-congenital disorder of glycosylation	GUncertain significance
Select item 1710518	GRCh37/hg19 13q11-34(chr13:19253848-115108937)x3	B3GLCT, HS6ST3 +332 more	Copy number gain	not provided	GPathogenic
Select item 1710379	NM_001004127.3(ALG11):c.1302_1305dup (p.Gly436fs)	ALG11, UTP14C (G436fs)	Duplication (frameshift variant +2 more)	not provided	GUncertain significance
Select item 1707147	NM_001004127.3(ALG11):c.1208-213dup	ALG11, UTP14C	Duplication (intron variant)	not provided	GLikely benign
Select item 1706562	GRCh37/hg19 13q14.3(chr13:52535544-53362733)x3	ALG11, ATP7B +9 more	Copy number gain	See cases	GUncertain significance
Select item 1703573	GRCh37/hg19 13p13-q34(chr13:1-115169878)	ABCC4, ABHD13 +332 more	Copy number gain	Complete trisomy 13 syndrome	GPathogenic
Select item 1694705	NM_021645.6(UTP14C):c.1393T>C (p.Leu465=)	ALG11, UTP14C	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1658849	NM_001004127.3(ALG11):c.1208-7T>C	ALG11, UTP14C	Single nucleotide variant (intron variant)	ALG11-congenital disorder of glycosylation	GLikely benign
Select item 1658848	NM_001004127.3(ALG11):c.1208-14G>T	ALG11, UTP14C	Single nucleotide variant (intron variant)	ALG11-congenital disorder of glycosylation	GLikely benign
Select item 1615448	NM_001004127.3(ALG11):c.987G>A (p.Lys329=)	ALG11, UTP14C	Single nucleotide variant (synonymous variant +1 more)	ALG11-congenital disorder of glycosylation	GLikely benign
Select item 1527772	GRCh37/hg19 13q14.11-14.3(chr13:44573371-53324137)	ALG11, ARL11 +64 more	Copy number loss	not specified	GPathogenic
Select item 1527771	GRCh37/hg19 13q14.11-31.3(chr13:42457841-91796698)	KLHL1, LPAR6 +120 more	Copy number loss	not specified	GPathogenic
Select item 1527766	GRCh37/hg19 13q13.3-31.1(chr13:36376204-80681753)	SPART, SPRYD7 +147 more	Copy number loss	not specified	GPathogenic
Select item 1527762	GRCh37/hg19 13q13.1-21.31(chr13:32946120-62698217)	AKAP11, ALG11 +127 more	Copy number loss	not specified	GPathogenic
Select item 1527750	GRCh37/hg19 13q11-34(chr13:19436286-115107733)	ABCC4, ABHD13 +332 more	Copy number gain	not specified	GPathogenic
Select item 1527749	GRCh37/hg19 13q11-34(chr13:19436286-114981726)	VPS36, VWA8 +329 more	Copy number gain	not specified	GPathogenic
Select item 1341277	GRCh37/hg19 13q14.11-33.3(chr13:42504540-108206269)x3	GTF2F2, PRR20D +175 more	Copy number gain	not provided	GPathogenic
Select item 1341081	GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3	ABCC4, ABHD13 +332 more	Copy number gain	not provided	GPathogenic
Select item 1328110	GRCh37/hg19 13q14.13-21.31(chr13:45819046-63910212)x1	ATP7B, WDFY2 +70 more	Copy number loss	not provided	GPathogenic
Select item 1321996	GRCh37/hg19 13p13-q34(chr13:1-115169878)x3	DACH1, IRS2 +332 more	Copy number gain	See cases	GPathogenic
Select item 1303283	NM_001004127.3(ALG11):c.1160A>C (p.Glu387Ala)	UTP14C, ALG11 (E387A)	Single nucleotide variant (missense variant +1 more)	ALG11-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 1270197	NM_001004127.3(ALG11):c.*1170G>A	ALG11, UTP14C (R319H)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GBenign
Select item 1242428	NM_001004127.3(ALG11):c.1207+62A>G	ALG11, UTP14C	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1220026	NM_001004127.3(ALG11):c.1208-225T>A	ALG11, UTP14C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1210215	NM_001004127.3(ALG11):c.1184T>C (p.Met395Thr)	ALG11, UTP14C (M395T)	Single nucleotide variant (missense variant +1 more)	ALG11-congenital disorder of glycosylation	GLikely pathogenic
Select item 1135135	NM_001004127.3(ALG11):c.1191C>T (p.Asn397=)	ALG11, UTP14C	Single nucleotide variant (synonymous variant +1 more)	ALG11-congenital disorder of glycosylation	GLikely benign
Select item 1073825	NC_000013.10:g.(?_52585403)_(52602726_?)del	ALG11, ATP7B +1 more	Deletion	Wilson disease +1 more	GPathogenic
Select item 1048617	GRCh37/hg19 13q11-34(chr13:19053605-115108528)x3	CENPJ, CHAMP1 +332 more	Copy number gain	See cases	GPathogenic
Select item 1028908	NM_001004127.3(ALG11):c.991G>T (p.Val331Phe)	ALG11, UTP14C (V331F)	Single nucleotide variant (missense variant +1 more)	ALG11-congenital disorder of glycosylation	GUncertain significance
Select item 988918	GRCh37/hg19 13q14.3-21.1(chr13:52170957-57713087)x3	ALG11, ATP7B +15 more	Copy number gain	not provided	GUncertain significance
Select item 979369	GRCh37/hg19 13q14.12-14.3(chr13:45487628-52639336)x3	ALG11, ARL11 +54 more	Copy number gain	not provided	GLikely pathogenic
Select item 961247	NM_001004127.3(ALG11):c.1349C>T (p.Ala450Val)	ALG11, UTP14C (A450V)	Single nucleotide variant (missense variant +2 more)	ALG11-congenital disorder of glycosylation	GUncertain significance
Select item 883956	NM_021645.6(UTP14C):c.470T>G (p.Val157Gly)	ALG11, UTP14C (V157G)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +2 more	GUncertain significance
Select item 883955	NM_001004127.3(ALG11):c.*540T>A	ALG11, UTP14C (V109D)	Single nucleotide variant (3 prime UTR variant +2 more)	ALG11-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 883954	NM_001004127.3(ALG11):c.*491G>A	ALG11, UTP14C (V93I)	Single nucleotide variant (3 prime UTR variant +2 more)	ALG11-congenital disorder of glycosylation	GUncertain significance
Select item 883953	NM_001004127.3(ALG11):c.*490C>T	ALG11, UTP14C	Single nucleotide variant (3 prime UTR variant +2 more)	ALG11-congenital disorder of glycosylation	GUncertain significance
Select item 883177	NM_001004127.3(ALG11):c.*386C>T	ALG11, UTP14C (R58W)	Single nucleotide variant (3 prime UTR variant +2 more)	ALG11-congenital disorder of glycosylation	GUncertain significance
Select item 883176	NM_001004127.3(ALG11):c.*173G>A	ALG11, UTP14C	Single nucleotide variant (3 prime UTR variant +2 more)	ALG11-congenital disorder of glycosylation +1 more	GLikely benign
Select item 883175	NM_001004127.3(ALG11):c.*22G>T	ALG11, UTP14C	Single nucleotide variant (3 prime UTR variant +2 more)	ALG11-congenital disorder of glycosylation	GUncertain significance
Select item 882013	NM_001004127.3(ALG11):c.1269G>A (p.Lys423=)	ALG11, UTP14C	Single nucleotide variant (synonymous variant +2 more)	ALG11-congenital disorder of glycosylation	GConflicting classifications of pathogenicity
Select item 882012	NM_001004127.3(ALG11):c.1214T>C (p.Val405Ala)	ALG11, UTP14C (V405A)	Single nucleotide variant (missense variant +2 more)	ALG11-congenital disorder of glycosylation	GUncertain significance
Select item 882011	NM_001004127.3(ALG11):c.1037G>A (p.Arg346His)	ALG11, UTP14C (R346H)	Single nucleotide variant (missense variant +1 more)	ALG11-congenital disorder of glycosylation	GUncertain significance

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