C0268225[trait identifier] AND "Genome-Nilou Lab"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 683254	NM_000027.4(AGA):c.941-84C>G	AGA	Single nucleotide variant (intron variant)	Aspartylglucosaminuria +1 more	GBenign
Select item 1195944	NM_000027.4(AGA):c.719T>C (p.Ile240Thr)	AGA (I230T +1 more)	Single nucleotide variant (missense variant +1 more)	Aspartylglucosaminuria	GUncertain significance
Select item 558962	NM_000027.4(AGA):c.699-25G>C	AGA	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 558964	NM_000027.4(AGA):c.515T>C (p.Ile172Thr)	AGA (I172T)	Single nucleotide variant (missense variant +1 more)	Aspartylglucosaminuria	GUncertain significance
Select item 92308	NM_000027.4(AGA):c.446C>G (p.Thr149Ser)	AGA (T149S)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign
Select item 427059	NM_000027.4(AGA):c.436T>G (p.Leu146Val)	AGA (L146V)	Single nucleotide variant (missense variant +1 more)	Aspartylglucosaminuria +1 more	GConflicting classifications of pathogenicity
Select item 92307	NM_000027.4(AGA):c.281+13T>G	AGA	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 558965	NM_000027.4(AGA):c.127+25C>T	AGA	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1195958	NM_000027.4(AGA):c.109A>G (p.Lys37Glu)	AGA (K37E)	Single nucleotide variant (missense variant +1 more)	Aspartylglucosaminuria	GConflicting classifications of pathogenicity

ClinVar