"PreventionGenetics, part of Exact Sciences"[submitter] AND "AUH"[gene - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 9060	NM_001698.3(AUH):c.943-2A>G	AUH	Single nucleotide variant (splice acceptor variant)	AUH-related disorder	GLikely pathogenic
Select item 258172	NM_001698.3(AUH):c.844-20T>C	AUH	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 258171	NM_001698.3(AUH):c.795C>T (p.Asp265=)	AUH	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 136472	NM_001698.3(AUH):c.678C>T (p.Arg226=)	AUH	Single nucleotide variant (synonymous variant)	not specified +2 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 258170	NM_001698.3(AUH):c.331-6G>A	AUH	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 682577	NM_001698.3(AUH):c.263-5_263-2del	AUH	Deletion (splice acceptor variant)	3-methylglutaconic aciduria type 1 +2 more	GConflicting classifications of pathogenicity
Select item 2413627	NM_001698.3(AUH):c.174C>T (p.Ala58=)	AUH, LOC130002059	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GLikely benign
Select item 1219237	NM_001698.3(AUH):c.140C>T (p.Pro47Leu)	AUH, LOC130002059 (P47L)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity