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

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 367471	NM_001698.3(AUH):c.*432C>T	AUH	Single nucleotide variant (3 prime UTR variant)	3-methylglutaconic aciduria type 1	GUncertain significance
Select item 367472	NM_001698.3(AUH):c.259_262del	AUH	Deletion (3 prime UTR variant)	3-methylglutaconic aciduria type 1	GUncertain significance
Select item 914654	NM_001698.3(AUH):c.*237G>A	AUH	Single nucleotide variant (3 prime UTR variant)	3-methylglutaconic aciduria type 1	GUncertain significance
Select item 367473	NM_001698.3(AUH):c.218_219del	AUH	Deletion (3 prime UTR variant)	3-methylglutaconic aciduria type 1	GUncertain significance
Select item 914655	NM_001698.3(AUH):c.*200A>G	AUH	Single nucleotide variant (3 prime UTR variant)	3-methylglutaconic aciduria type 1	GBenign
Select item 914656	NM_001698.3(AUH):c.*175G>A	AUH	Single nucleotide variant (3 prime UTR variant)	3-methylglutaconic aciduria type 1	GUncertain significance
Select item 367474	NM_001698.3(AUH):c.*107A>G	AUH	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 914657	NM_001698.3(AUH):c.*60G>A	AUH	Single nucleotide variant (3 prime UTR variant)	3-methylglutaconic aciduria type 1	GUncertain significance
Select item 367475	NM_001698.3(AUH):c.*29G>A	AUH	Single nucleotide variant (3 prime UTR variant)	3-methylglutaconic aciduria type 1	GUncertain significance
Select item 444773	NM_001698.3(AUH):c.1004G>A (p.Arg335His)	AUH (R335H +3 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria type 1 +2 more	GUncertain significance
Select item 367476	NM_001698.3(AUH):c.951A>T (p.Pro317=)	AUH	Single nucleotide variant (synonymous variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 516705	NM_001698.3(AUH):c.936T>C (p.Tyr312=)	AUH	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 136473	NM_001698.3(AUH):c.927A>G (p.Glu309=)	AUH	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GBenign/Likely benign
Select item 976618	NM_001698.3(AUH):c.894+9C>A	AUH	Single nucleotide variant (intron variant)	3-methylglutaconic aciduria type 1	GConflicting classifications of pathogenicity
Select item 529797	NM_001698.3(AUH):c.719C>T (p.Ala240Val)	AUH (A240V +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 976619	NM_001698.3(AUH):c.679G>A (p.Ala227Thr)	AUH (A198T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 136472	NM_001698.3(AUH):c.678C>T (p.Arg226=)	AUH	Single nucleotide variant (synonymous variant)	AUH-related condition +2 more	GConflicting classifications of pathogenicity
Select item 976630	NM_001698.3(AUH):c.655+7G>A	AUH	Single nucleotide variant (intron variant)	3-methylglutaconic aciduria type 1	GConflicting classifications of pathogenicity
Select item 214142	NM_001698.3(AUH):c.598+10A>C	AUH	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 128520	NM_001698.3(AUH):c.483A>C (p.Ile161=)	AUH	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign
Select item 214153	NM_001698.3(AUH):c.381A>G (p.Ile127Met)	AUH (I127M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 258170	NM_001698.3(AUH):c.331-6G>A	AUH	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 214144	NM_001698.3(AUH):c.182C>A (p.Pro61His)	AUH, LOC130002059 (P61H)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 367477	NM_001698.3(AUH):c.84G>T (p.Ala28=)	AUH, LOC130002059	Single nucleotide variant (synonymous variant +1 more)	3-methylglutaconic aciduria type 1	GUncertain significance
Select item 136474	NM_001698.3(AUH):c.77G>A (p.Cys26Tyr)	AUH, LOC130002059 (C26Y)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GBenign
Select item 367478	NM_001698.2(AUH):c.-30C>G	AUH, LOC130002059	Single nucleotide variant	3-methylglutaconic aciduria type 1	GUncertain significance
Select item 2671591	Single allele	CARD19, MIR24-1 +106 more	Deletion	not provided	GPathogenic

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Items: 27