UTP14C[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146305	GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1	ATP8A2, ATXN8OS +2049 more	Copy number loss	See cases	GPathogenic
Select item 151282	GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3	LOC130009892, LOC130009893 +2050 more	Copy number gain	See cases	GPathogenic
Select item 59851	GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3	LOC130009819, LOC130009820 +2048 more	Copy number gain	See cases	GPathogenic
Select item 59855	GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3	ABCC4, ABHD13 +2045 more	Copy number gain	See cases	GPathogenic
Select item 155395	GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3	ABCC4, ABHD13 +2046 more	Copy number gain	See cases	GPathogenic
Select item 59858	GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3	LOC130009309, LOC130009310 +2041 more	Copy number gain	See cases	GPathogenic
Select item 154857	GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3	LOC130009607, LOC130009608 +2029 more	Copy number gain	See cases	GPathogenic
Select item 150189	GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3	ABCC4, ABHD13 +2025 more	Copy number gain	See cases	GPathogenic
Select item 144647	GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3	LOC130009383, LOC130009384 +2022 more	Copy number gain	See cases	GPathogenic
Select item 160881	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC126861859, LOC126861860 +2025 more	Copy number gain	See cases	GPathogenic
Select item 59863	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC112163664, LOC112163665 +2025 more	Copy number gain	See cases	GPathogenic
Select item 59868	GRCh38/hg38 13q12.3-31.1(chr13:30318913-83610426)x3	LOC130009567, LOC130009568 +1005 more	Copy number gain	See cases	GPathogenic
Select item 57638	GRCh38/hg38 13q12.3-21.33(chr13:30697728-69471973)x1	LOC130009620, LOC130009621 +781 more	Copy number loss	See cases	GPathogenic
Select item 161028	GRCh38/hg38 13q12.3-31.3(chr13:31363472-90575292)x3	ACOD1, AKAP11 +992 more	Copy number gain	See cases	GPathogenic
Select item 33174	GRCh38/hg38 13q12.3-31.3(chr13:31363472-90575292)x3	ACOD1, AKAP11 +992 more	Copy number gain	See cases	GPathogenic
Select item 146536	GRCh38/hg38 13q12.3-21.32(chr13:31553608-65470367)x3	LOC130009600, LOC130009601 +735 more	Copy number gain	See cases	GPathogenic
Select item 149289	GRCh38/hg38 13q13.1-31.1(chr13:32531486-86757044)x3	LOC130009611, LOC130009612 +938 more	Copy number gain	See cases	GPathogenic
Select item 59888	GRCh38/hg38 13q13.2-34(chr13:33528097-114327173)x3	LOC130009687, LOC130009688 +1557 more	Copy number gain	See cases	GPathogenic
Select item 144214	GRCh38/hg38 13q13.3-21.31(chr13:36777318-62955876)x1	LINC00400, LINC02333 +604 more	Copy number loss	See cases	GPathogenic
Select item 152095	GRCh38/hg38 13q13.3-21.32(chr13:37864226-67963788)x1	LOC130009665, LOC130009659 +612 more	Copy number loss	See cases	GPathogenic
Select item 148828	GRCh38/hg38 13q14.11-34(chr13:40942298-114340331)x1	ABCC4, ABHD13 +1404 more	Copy number loss	See cases	GPathogenic
Select item 147318	GRCh38/hg38 13q14.11-31.1(chr13:41143820-85137552)x1	LOC130009942, LOC130009943 +733 more	Copy number loss	See cases	GPathogenic
Select item 144462	GRCh38/hg38 13q14.11-31.1(chr13:41288493-85137552)x3	ALG11, ARL11 +729 more	Copy number gain	See cases	GPathogenic
Select item 59893	GRCh38/hg38 13q14.11-34(chr13:44164751-114327173)x3	LOC130009917, LOC130009918 +1288 more	Copy number gain	See cases	GPathogenic
Select item 59896	GRCh38/hg38 13q14.12-34(chr13:44733046-114327173)x3	ARHGEF7-AS1, ARHGEF7-AS2 +1268 more	Copy number gain	See cases	GPathogenic
Select item 57227	GRCh38/hg38 13q14.12-31.3(chr13:44967523-92738168)x1	LOC130009879, LOC130009880 +657 more	Copy number loss	See cases	GPathogenic
Select item 545122	NC_000013.11:g.46968080_87381985del40413906	ACOD1, ALG11 +530 more	Deletion	Chromosome 13q14 deletion syndrome	GPathogenic
Select item 147464	GRCh38/hg38 13q14.2-31.1(chr13:47117587-84300935)x1	OBI1-AS1, OLFM4 +513 more	Copy number loss	See cases	GPathogenic
Select item 154070	GRCh38/hg38 13q14.2-21.31(chr13:47765202-62058520)x1	ALG11, ARL11 +266 more	Copy number loss	See cases	GPathogenic
Select item 58255	GRCh38/hg38 13q14.3(chr13:51717666-52258617)x3	ALG11, ATP7B +35 more	Copy number gain	See cases	GUncertain significance
Select item 584213	NC_000013.10:g.(?_52538988)_(52602746_?)dup	ALG11, ATP7B +7 more	Duplication	ALG11-congenital disorder of glycosylation	GUncertain significance
Select item 420418	NM_001004127.3(ALG11):c.983AGA[1] (p.Lys329del)	ALG11, UTP14C (K329del)	Microsatellite (inframe_deletion +1 more)	not provided	GConflicting classifications of pathogenicity
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 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 755094	NM_001004127.3(ALG11):c.1008G>A (p.Ser336=)	ALG11, UTP14C	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 312414	NM_001004127.3(ALG11):c.1029A>G (p.Gly343=)	ALG11, UTP14C	Single nucleotide variant (synonymous variant +1 more)	ALG11-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 381405	NM_001004127.3(ALG11):c.1032T>G (p.Gly344=)	ALG11, UTP14C	Single nucleotide variant (synonymous variant +1 more)	ALG11-congenital disorder of glycosylation +1 more	GBenign/Likely benign
Select item 312415	NM_001004127.3(ALG11):c.1034G>T (p.Cys345Phe)	ALG11, UTP14C (C345F)	Single nucleotide variant (missense variant +1 more)	ALG11-congenital disorder of glycosylation	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 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
Select item 733922	NM_001004127.3(ALG11):c.1074A>G (p.Arg358=)	ALG11, UTP14C	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 509279	NM_001004127.3(ALG11):c.1107T>C (p.Tyr369=)	ALG11, UTP14C	Single nucleotide variant (synonymous variant +1 more)	ALG11-congenital disorder of glycosylation +1 more	GBenign/Likely benign
Select item 280305	NM_001004127.3(ALG11):c.1123_1126del (p.Asn375fs)	ALG11, UTP14C (N375fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 31645	NM_001004127.3(ALG11):c.1142T>C (p.Leu381Ser)	ALG11, UTP14C (L381S)	Single nucleotide variant (missense variant +1 more)	ALG11-congenital disorder of glycosylation	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 166671	NM_001004127.3(ALG11):c.1183A>G (p.Met395Val)	ALG11, UTP14C (M395V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 31646	NM_001004127.3(ALG11):c.1192G>A (p.Glu398Lys)	ALG11, UTP14C (E398K)	Single nucleotide variant (missense variant +1 more)	ALG11-congenital disorder of glycosylation	GPathogenic
Select item 1242428	NM_021645.6(UTP14C):c.-487+62A>G	ALG11, UTP14C	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1707147	NM_021645.6(UTP14C):c.-486-213dup	ALG11, UTP14C	Duplication (intron variant)	not provided	GLikely benign
Select item 1220026	NM_021645.6(UTP14C):c.-486-225T>A	ALG11, UTP14C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1658848	NM_021645.6(UTP14C):c.-486-14G>T	ALG11, UTP14C	Single nucleotide variant (intron variant)	ALG11-congenital disorder of glycosylation	GLikely benign
Select item 1658849	NM_021645.6(UTP14C):c.-486-7T>C	ALG11, UTP14C	Single nucleotide variant (intron variant)	ALG11-congenital disorder of glycosylation	GLikely benign
Select item 312416	NM_021645.6(UTP14C):c.-486-6T>C	ALG11, UTP14C	Single nucleotide variant (intron variant)	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 2770727	NM_001004127.3(ALG11):c.1220G>T (p.Cys407Phe)	UTP14C, ALG11 (C407F)	Single nucleotide variant (missense variant +2 more)	ALG11-congenital disorder of glycosylation	GUncertain significance
Select item 422476	NM_001004127.3(ALG11):c.1223T>G (p.Met408Arg)	ALG11, UTP14C (M408R)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely pathogenic
Select item 93443	NM_001004127.3(ALG11):c.1241T>A (p.Ile414Asn)	ALG11, UTP14C (I414N)	Single nucleotide variant (missense variant +2 more)	ALG11-congenital disorder of glycosylation +1 more	GConflicting classifications of pathogenicity
Select item 383290	NM_001004127.3(ALG11):c.1257G>A (p.Ser419=)	UTP14C, ALG11	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign
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 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 1715491	NM_001004127.3(ALG11):c.1273G>A (p.Asp425Asn)	UTP14C, ALG11 (D425N)	Single nucleotide variant (missense variant +2 more)	ALG11-congenital disorder of glycosylation	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 740821	NM_001004127.3(ALG11):c.1293A>G (p.Glu431=)	ALG11, UTP14C	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
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 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 166672	NM_001004127.3(ALG11):c.1309T>G (p.Phe437Val)	ALG11, UTP14C (F437V)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 755994	NM_001004127.3(ALG11):c.1344T>G (p.Thr448=)	UTP14C, ALG11	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
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 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 265035	NM_001004127.3(ALG11):c.1402C>T (p.Arg468Cys)	ALG11, UTP14C (R468C)	Single nucleotide variant (missense variant +2 more)	not provided	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 715371	NM_001004127.3(ALG11):c.1452A>G (p.Leu484=)	ALG11, UTP14C	Single nucleotide variant (synonymous variant +2 more)	ALG11-congenital disorder of glycosylation +1 more	GLikely benign
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 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 883175	NM_021645.6(UTP14C):c.-193G>T	ALG11, UTP14C	Single nucleotide variant (3 prime UTR variant +2 more)	ALG11-congenital disorder of glycosylation	GUncertain significance
Select item 312417	NM_021645.6(UTP14C):c.-67A>T	ALG11, UTP14C	Single nucleotide variant (3 prime UTR variant +2 more)	ALG11-congenital disorder of glycosylation	GUncertain significance
Select item 883176	NM_021645.6(UTP14C):c.-42G>A	ALG11, UTP14C	Single nucleotide variant (3 prime UTR variant +2 more)	ALG11-congenital disorder of glycosylation +1 more	GLikely benign
Select item 312418	NM_021645.6(UTP14C):c.-22A>C	ALG11, UTP14C	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +1 more	GBenign
Select item 312419	NM_021645.6(UTP14C):c.63G>T (p.Leu21Phe)	ALG11, UTP14C (L21F)	Single nucleotide variant (3 prime UTR variant +2 more)	ALG11-congenital disorder of glycosylation	GUncertain significance
Select item 312420	NM_021645.6(UTP14C):c.83G>A (p.Ser28Asn)	ALG11, UTP14C (S28N)	Single nucleotide variant (3 prime UTR variant +2 more)	ALG11-congenital disorder of glycosylation	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 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 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 883177	NM_021645.6(UTP14C):c.172C>T (p.Arg58Trp)	ALG11, UTP14C (R58W)	Single nucleotide variant (3 prime UTR variant +2 more)	ALG11-congenital disorder of glycosylation	GUncertain significance
Select item 312421	NM_021645.6(UTP14C):c.192T>C (p.Ser64=)	ALG11, UTP14C	Single nucleotide variant (3 prime UTR variant +2 more)	ALG11-congenital disorder of glycosylation	GUncertain significance
Select item 312422	NM_021645.6(UTP14C):c.254G>T (p.Gly85Val)	ALG11, UTP14C (G85V)	Single nucleotide variant (3 prime UTR variant +2 more)	ALG11-congenital disorder of glycosylation +1 more	GBenign
Select item 883953	NM_021645.6(UTP14C):c.276C>T (p.Pro92=)	ALG11, UTP14C	Single nucleotide variant (3 prime UTR variant +2 more)	ALG11-congenital disorder of glycosylation	GUncertain significance
Select item 883954	NM_021645.6(UTP14C):c.277G>A (p.Val93Ile)	ALG11, UTP14C (V93I)	Single nucleotide variant (3 prime UTR variant +2 more)	ALG11-congenital disorder of glycosylation	GUncertain significance
Select item 312423	NM_021645.6(UTP14C):c.301A>G (p.Thr101Ala)	ALG11, UTP14C (T101A)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +1 more	GBenign
Select item 883955	NM_021645.6(UTP14C):c.326T>A (p.Val109Asp)	ALG11, UTP14C (V109D)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +1 more	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 883956	NM_021645.6(UTP14C):c.470T>G (p.Val157Gly)	ALG11, UTP14C (V157G)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified +2 more	GUncertain significance
Select item 235513	NM_021645.6(UTP14C):c.508A>G (p.Ile170Val)	UTP14C, ALG11 (I170V)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
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 880667	NM_021645.6(UTP14C):c.540A>C (p.Arg180Ser)	ALG11, UTP14C (R180S)	Single nucleotide variant (3 prime UTR variant +2 more)	ALG11-congenital disorder of glycosylation	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 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 880668	NM_021645.6(UTP14C):c.575A>G (p.His192Arg)	ALG11, UTP14C (H192R)	Single nucleotide variant (3 prime UTR variant +2 more)	ALG11-congenital disorder of glycosylation	GUncertain significance

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