"Diagnostic Laboratory, Department of Genetics, University Medical Cen - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 92308	NM_000027.4(AGA):c.446C>G (p.Thr149Ser)	AGA (T149S)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign
Select item 55941	NM_000027.4(AGA):c.336del (p.Ile112fs)	AGA (I112fs)	Deletion (frameshift variant +1 more)	Aspartylglucosaminuria	GPathogenic
Select item 92307	NM_000027.4(AGA):c.281+13T>G	AGA	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign

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