"GeneDx"[submitter] AND "LOC130002059"[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59881	GRCh38/hg38 9q22.1-32(chr9:88522292-113687796)x3	LOC130002218, LOC130002219 +994 more	Copy number gain	See cases	GPathogenic
Select item 214144	NM_001698.3(AUH):c.182C>A (p.Pro61His)	AUH, LOC130002059 (P61H)	Single nucleotide variant (missense variant +1 more)	3-methylglutaconic aciduria type 1 +2 more	GBenign/Likely benign
Select item 214143	NM_001698.3(AUH):c.170C>T (p.Ala57Val)	AUH, LOC130002059 (A57V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 214154	NM_001698.3(AUH):c.148T>A (p.Trp50Arg)	AUH, LOC130002059 (W50R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1219237	NM_001698.3(AUH):c.140C>T (p.Pro47Leu)	LOC130002059, AUH (P47L)	Single nucleotide variant (missense variant +1 more)	3-methylglutaconic aciduria type 1 +2 more	GConflicting classifications of pathogenicity
Select item 386078	NM_001698.3(AUH):c.135G>A (p.Ala45=)	AUH, LOC130002059	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GBenign/Likely benign
Select item 136474	NM_001698.3(AUH):c.77G>A (p.Cys26Tyr)	AUH, LOC130002059 (C26Y)	Single nucleotide variant (missense variant +1 more)	3-methylglutaconic aciduria type 1 +2 more	GBenign
Select item 214141	NM_001698.3(AUH):c.20C>T (p.Ala7Val)	AUH, LOC130002059 (A7V)	Single nucleotide variant (5 prime UTR variant +1 more)	3-methylglutaconic aciduria type 1 +2 more	GConflicting classifications of pathogenicity
Select item 512108	NM_001698.3(AUH):c.-13G>A	AUH, LOC130002059	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 381878	NM_001698.3(AUH):c.-28T>C	AUH, LOC130002059	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 509547	NM_001698.2(AUH):c.-45C>A	AUH, LOC130002059	Single nucleotide variant	not specified	GLikely benign