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

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Items: 59

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 306963	NM_080911.3(UNG):c.-73C>T	UNG	Single nucleotide variant (5 prime UTR variant)	Hyper-IgM syndrome type 5	GUncertain significance
Select item 884163	NM_080911.3(UNG):c.-51A>G	UNG	Single nucleotide variant (5 prime UTR variant)	Hyper-IgM syndrome type 5	GUncertain significance
Select item 306964	NM_080911.3(UNG):c.-51A>T	UNG	Single nucleotide variant (5 prime UTR variant)	Hyper-IgM syndrome type 5	GUncertain significance
Select item 884164	NM_080911.3(UNG):c.-50G>A	UNG	Single nucleotide variant (5 prime UTR variant)	Hyper-IgM syndrome type 5	GUncertain significance
Select item 306965	NM_080911.3(UNG):c.6C>A (p.Ile2=)	UNG	Single nucleotide variant (synonymous variant)	Hyper-IgM syndrome type 5	GUncertain significance
Select item 884165	NM_080911.3(UNG):c.36C>A (p.Ser12=)	UNG	Single nucleotide variant (synonymous variant)	Hyper-IgM syndrome type 5	GConflicting classifications of pathogenicity
Select item 880878	NM_080911.3(UNG):c.65C>T (p.Pro22Leu)	UNG (P22L)	Single nucleotide variant (missense variant)	Hyper-IgM syndrome type 5	GUncertain significance
Select item 306966	NM_080911.3(UNG):c.81C>A (p.Ala27=)	UNG	Single nucleotide variant (synonymous variant)	Hyper-IgM syndrome type 5	GConflicting classifications of pathogenicity
Select item 880879	NM_080911.3(UNG):c.86A>C (p.Gln29Pro)	UNG (Q29P)	Single nucleotide variant (missense variant)	Hyper-IgM syndrome type 5	GUncertain significance
Select item 306967	NM_080911.3(UNG):c.100G>A (p.Ala34Thr)	UNG, LOC130008712 (A34T)	Single nucleotide variant (missense variant)	Hyper-IgM syndrome type 5	GUncertain significance
Select item 789324	NM_080911.3(UNG):c.183G>A (p.Pro61=)	UNG	Single nucleotide variant (synonymous variant)	UNG-related condition +2 more	GConflicting classifications of pathogenicity
Select item 710807	NM_080911.3(UNG):c.194C>T (p.Pro65Leu)	UNG (P65L +1 more)	Single nucleotide variant (missense variant)	Hyper-IgM syndrome type 5	GConflicting classifications of pathogenicity
Select item 306969	NM_080911.3(UNG):c.204C>T (p.Ala68=)	UNG	Single nucleotide variant (synonymous variant)	Hyper-IgM syndrome type 5	GUncertain significance
Select item 306968	NM_080911.3(UNG):c.204C>G (p.Ala68=)	UNG	Single nucleotide variant (synonymous variant)	Hyper-IgM syndrome type 5	GConflicting classifications of pathogenicity
Select item 306970	NM_080911.3(UNG):c.231C>G (p.Asn77Lys)	UNG (N77K +1 more)	Single nucleotide variant (missense variant)	Hyper-IgM syndrome type 5	GUncertain significance
Select item 36894	NM_080911.3(UNG):c.246G>C (p.Leu82=)	UNG	Single nucleotide variant (synonymous variant)	Hyper-IgM syndrome type 5	GConflicting classifications of pathogenicity
Select item 440391	NM_080911.3(UNG):c.262C>T (p.Arg88Cys)	UNG (R88C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 463871	NM_080911.3(UNG):c.291C>T (p.Ser97=)	UNG	Single nucleotide variant (synonymous variant)	Hyper-IgM syndrome type 5	GBenign
Select item 306971	NM_080911.3(UNG):c.435+15T>A	UNG	Single nucleotide variant (intron variant)	Hyper-IgM syndrome type 5	GConflicting classifications of pathogenicity
Select item 306972	NM_080911.3(UNG):c.528G>A (p.Pro176=)	UNG	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 306973	NM_080911.3(UNG):c.533+6G>A	UNG	Single nucleotide variant (intron variant)	UNG-related condition +2 more	GConflicting classifications of pathogenicity
Select item 306974	NM_080911.3(UNG):c.544A>G (p.Ile182Val)	UNG (I182V +1 more)	Single nucleotide variant (missense variant)	Hyper-IgM syndrome type 5	GUncertain significance
Select item 882509	NM_080911.3(UNG):c.622+10C>T	UNG	Single nucleotide variant (intron variant)	Hyper-IgM syndrome type 5	GBenign/Likely benign
Select item 306975	NM_080911.3(UNG):c.623-9T>A	UNG	Single nucleotide variant (intron variant)	Hyper-IgM syndrome type 5	GUncertain significance
Select item 306976	NM_080911.3(UNG):c.660C>T (p.Ala220=)	UNG	Single nucleotide variant (synonymous variant)	Hyper-IgM syndrome type 5	GUncertain significance
Select item 882510	NM_080911.3(UNG):c.664C>G (p.Gln222Glu)	UNG (Q222E +1 more)	Single nucleotide variant (missense variant)	Hyper-IgM syndrome type 5	GUncertain significance
Select item 306977	NM_080911.3(UNG):c.759C>G (p.Leu253=)	UNG	Single nucleotide variant (synonymous variant)	Hyper-IgM syndrome type 5	GBenign
Select item 306978	NM_080911.3(UNG):c.769T>C (p.Tyr257His)	UNG (Y257H +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 882511	NM_080911.3(UNG):c.812A>G (p.His271Arg)	UNG (H271R +1 more)	Single nucleotide variant (missense variant)	Hyper-IgM syndrome type 5	GUncertain significance
Select item 763538	NM_080911.3(UNG):c.825G>A (p.Thr275=)	UNG	Single nucleotide variant (synonymous variant)	Hyper-IgM syndrome type 5	GConflicting classifications of pathogenicity
Select item 883297	NM_080911.3(UNG):c.*2C>A	UNG	Single nucleotide variant (3 prime UTR variant)	Hyper-IgM syndrome type 5	GUncertain significance
Select item 306979	NM_080911.3(UNG):c.*109A>G	UNG	Single nucleotide variant (3 prime UTR variant)	Hyper-IgM syndrome type 5	GUncertain significance
Select item 306980	NM_080911.3(UNG):c.*111A>T	UNG	Single nucleotide variant (3 prime UTR variant)	Hyper-IgM syndrome type 5	GUncertain significance
Select item 883298	NM_080911.3(UNG):c.*129C>T	UNG	Single nucleotide variant (3 prime UTR variant)	Hyper-IgM syndrome type 5	GUncertain significance
Select item 306981	NM_080911.3(UNG):c.*159G>A	UNG	Single nucleotide variant (3 prime UTR variant)	Hyper-IgM syndrome type 5	GUncertain significance
Select item 306982	NM_080911.3(UNG):c.*281C>T	UNG	Single nucleotide variant (3 prime UTR variant)	Hyper-IgM syndrome type 5	GUncertain significance
Select item 306983	NM_080911.3(UNG):c.*313C>G	UNG	Single nucleotide variant (3 prime UTR variant)	Hyper-IgM syndrome type 5	GUncertain significance
Select item 883299	NM_080911.3(UNG):c.*376C>G	UNG	Single nucleotide variant (3 prime UTR variant)	Hyper-IgM syndrome type 5	GUncertain significance
Select item 880938	NM_080911.3(UNG):c.*445C>T	UNG	Single nucleotide variant (3 prime UTR variant)	Hyper-IgM syndrome type 5	GUncertain significance
Select item 306984	NM_080911.3(UNG):c.*463C>T	UNG	Single nucleotide variant (3 prime UTR variant)	Hyper-IgM syndrome type 5	GLikely benign
Select item 306985	NM_080911.3(UNG):c.*500C>G	UNG	Single nucleotide variant (3 prime UTR variant)	Hyperimmunoglobulin M syndrome	GUncertain significance
Select item 306986	NM_080911.3(UNG):c.*522A>G	UNG	Single nucleotide variant (3 prime UTR variant)	Hyper-IgM syndrome type 5	GUncertain significance
Select item 306987	NM_080911.3(UNG):c.*537G>A	UNG	Single nucleotide variant (3 prime UTR variant)	Hyper-IgM syndrome type 5	GUncertain significance
Select item 306988	NM_080911.3(UNG):c.*545A>G	UNG	Single nucleotide variant (3 prime UTR variant)	Hyper-IgM syndrome type 5	GUncertain significance
Select item 880939	NM_080911.3(UNG):c.*573G>C	UNG	Single nucleotide variant (3 prime UTR variant)	Hyper-IgM syndrome type 5	GUncertain significance
Select item 306989	NM_080911.3(UNG):c.*611C>T	UNG	Single nucleotide variant (3 prime UTR variant)	Hyper-IgM syndrome type 5	GUncertain significance
Select item 306990	NM_080911.3(UNG):c.*655A>C	UNG	Single nucleotide variant (3 prime UTR variant)	Hyper-IgM syndrome type 5	GUncertain significance
Select item 306991	NM_080911.3(UNG):c.*699T>C	UNG	Single nucleotide variant (3 prime UTR variant)	Hyper-IgM syndrome type 5	GUncertain significance
Select item 882296	NM_080911.3(UNG):c.*705T>C	UNG	Single nucleotide variant (3 prime UTR variant)	Hyper-IgM syndrome type 5	GUncertain significance
Select item 306992	NM_080911.3(UNG):c.*708T>C	UNG	Single nucleotide variant (3 prime UTR variant)	Hyper-IgM syndrome type 5	GLikely benign
Select item 306993	NM_080911.3(UNG):c.*719G>A	UNG	Single nucleotide variant (3 prime UTR variant)	Hyper-IgM syndrome type 5	GUncertain significance
Select item 306994	NM_080911.3(UNG):c.*788dup	UNG	Duplication (3 prime UTR variant)	Hyperimmunoglobulin M syndrome	GLikely benign
Select item 882297	NM_080911.3(UNG):c.*858T>G	UNG	Single nucleotide variant (3 prime UTR variant)	Hyper-IgM syndrome type 5	GUncertain significance
Select item 306995	NM_080911.3(UNG):c.*866AT[9]	UNG	Microsatellite (3 prime UTR variant)	Hyperimmunoglobulin M syndrome	GLikely benign
Select item 306996	NM_080911.3(UNG):c.*866AT[5]	UNG	Microsatellite (3 prime UTR variant)	Hyperimmunoglobulin M syndrome	GUncertain significance
Select item 306997	NM_080911.3(UNG):c.*880A>T	UNG	Single nucleotide variant (3 prime UTR variant)	Hyper-IgM syndrome type 5	GUncertain significance
Select item 306998	NM_080911.3(UNG):c.*1013T>A	UNG	Single nucleotide variant (3 prime UTR variant)	Hyper-IgM syndrome type 5	GBenign
Select item 306999	NM_080911.3(UNG):c.*1018A>G	UNG	Single nucleotide variant (3 prime UTR variant)	Hyper-IgM syndrome type 5	GUncertain significance
Select item 988907	GRCh37/hg19 12q23.3-24.11(chr12:107197584-109830564)x1	ABTB3, ACACB +23 more	Copy number loss	not provided	GUncertain significance

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Items: 59