"Fulgent Genetics, Fulgent Genetics"[submitter] AND "AGA"[gene] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 387711	NM_000027.4(AGA):c.965C>T (p.Thr322Ile)	AGA (T322I +1 more)	Single nucleotide variant (missense variant +1 more)	Aspartylglucosaminuria +3 more	GBenign/Likely benign
Select item 92310	NM_000027.4(AGA):c.793C>T (p.Arg265Cys)	AGA (R265C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 991946	NM_000027.4(AGA):c.792G>A (p.Met264Ile)	AGA (M254I +1 more)	Single nucleotide variant (missense variant +1 more)	Aspartylglucosaminuria +1 more	GUncertain significance
Select item 991947	NM_000027.4(AGA):c.776A>G (p.Asn259Ser)	AGA (N249S +1 more)	Single nucleotide variant (missense variant +1 more)	Aspartylglucosaminuria	GUncertain significance
Select item 55950	NM_000027.4(AGA):c.677G>A (p.Gly226Asp)	AGA (G226D)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 219	NM_000027.4(AGA):c.488G>C (p.Cys163Ser)	AGA (C163S)	Single nucleotide variant (missense variant +1 more)	Aspartylglucosaminuria	GPathogenic
Select item 55946	NM_000027.4(AGA):c.404T>C (p.Phe135Ser)	AGA (F135S)	Single nucleotide variant (missense variant +1 more)	Aspartylglucosaminuria	GLikely pathogenic
Select item 650146	NM_000027.4(AGA):c.376C>G (p.Leu126Val)	AGA (L126V)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder +1 more	GUncertain significance
Select item 223	NM_000027.4(AGA):c.302C>T (p.Ala101Val)	AGA (A101V)	Single nucleotide variant (missense variant +1 more)	Aspartylglucosaminuria +1 more	GPathogenic/Likely pathogenic
Select item 550676	NM_000027.4(AGA):c.281+1G>T	AGA	Single nucleotide variant (splice donor variant)	Aspartylglucosaminuria	GLikely pathogenic
Select item 55939	NM_000027.4(AGA):c.200_201del (p.Glu67fs)	AGA (E67fs)	Microsatellite (frameshift variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 495346	NM_000027.4(AGA):c.101_107del (p.Trp34fs)	AGA (W34fs)	Deletion (frameshift variant +1 more)	Aspartylglucosaminuria +1 more	GPathogenic