"Illumina Laboratory Services, Illumina"[submitter] AND "UTP14C"[gene] - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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	GUncertain significance
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 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 509279	NM_001004127.3(ALG11):c.1107T>C (p.Tyr369=)	ALG11, UTP14C	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GBenign/Likely 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 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 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 (non-coding transcript variant +2 more)	ALG11-congenital disorder of glycosylation +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 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 (non-coding transcript variant +2 more)	ALG11-congenital disorder of glycosylation +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)	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 specified +1 more	GUncertain significance
Select item 235513	NM_021645.6(UTP14C):c.508A>G (p.Ile170Val)	ALG11, UTP14C (I170V)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
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 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
Select item 312424	NM_021645.6(UTP14C):c.726A>C (p.Lys242Asn)	ALG11, UTP14C (K242N)	Single nucleotide variant (3 prime UTR variant +2 more)	Congenital disorder of glycosylation	GUncertain significance
Select item 312425	NM_021645.6(UTP14C):c.739A>G (p.Lys247Glu)	ALG11, UTP14C (K247E)	Single nucleotide variant (3 prime UTR variant +2 more)	ALG11-congenital disorder of glycosylation	GUncertain significance
Select item 312426	NM_021645.6(UTP14C):c.835C>T (p.Leu279=)	ALG11, UTP14C	Single nucleotide variant (non-coding transcript variant +2 more)	not provided +1 more	GBenign
Select item 1710518	GRCh37/hg19 13q11-34(chr13:19253848-115108937)x3	CCDC169-SOHLH2, CCDC70 +332 more	Copy number gain	not provided	GPathogenic
Select item 1328110	GRCh37/hg19 13q14.13-21.31(chr13:45819046-63910212)x1	ALG11, ARL11 +70 more	Copy number loss	not provided	GPathogenic
Select item 988918	GRCh37/hg19 13q14.3-21.1(chr13:52170957-57713087)x3	ALG11, ATP7B +15 more	Copy number gain	not provided	GUncertain significance

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Items: 30