C0268225[trait identifier] AND "Clinical Genetics DNA and cytogenetics - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 290584	NM_000027.4(AGA):c.762C>T (p.Ala254=)	AGA	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 796438	NM_000027.4(AGA):c.645A>G (p.Thr215=)	AGA	Single nucleotide variant (synonymous variant)	Aspartylglucosaminuria	GLikely benign
Select item 348233	NM_000027.4(AGA):c.623-7C>T	AGA	Single nucleotide variant (intron variant)	AGA-related condition +2 more	GConflicting classifications of pathogenicity
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)	not provided +1 more	GConflicting classifications of pathogenicity
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

ClinVar