"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "LOC1300020 - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2413627	NM_001698.3(AUH):c.174C>T (p.Ala58=)	AUH, LOC130002059	Single nucleotide variant (synonymous variant +1 more)	3-methylglutaconic aciduria type 1 +2 more	GLikely benign
Select item 810388	NM_001698.3(AUH):c.150G>A (p.Trp50Ter)	AUH, LOC130002059 (W50*)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely pathogenic