"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "AGA"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 55952	NM_000027.4(AGA):c.755G>A (p.Gly252Glu)	AGA (G252E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 558962	NM_000027.4(AGA):c.699-25G>C	AGA	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 558963	NM_000027.4(AGA):c.698+27C>T	AGA	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 558966	NM_000027.4(AGA):c.127+22G>A	AGA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 188964	NM_000027.4(AGA):c.34G>T (p.Val12Leu)	AGA (V12L)	Single nucleotide variant (missense variant +1 more)	Aspartylglucosaminuria +1 more	GConflicting classifications of pathogenicity