"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "AMPD3"[ - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 302154	NM_001025389.2(AMPD3):c.426+8G>A	AMPD3	Single nucleotide variant (intron variant)	Erythrocyte AMP deaminase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 750159	NM_001025389.2(AMPD3):c.597C>T (p.His199=)	AMPD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 302160	NM_001025389.2(AMPD3):c.669C>T (p.His223=)	AMPD3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 302162	NM_001025389.2(AMPD3):c.960G>A (p.Ala320=)	AMPD3	Single nucleotide variant (synonymous variant)	Erythrocyte AMP deaminase deficiency +1 more	GBenign/Likely benign
Select item 787375	NM_001025389.2(AMPD3):c.1067G>A (p.Arg356Gln)	AMPD3 (R356Q +3 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 776586	NM_001025389.2(AMPD3):c.1081G>A (p.Gly361Ser)	AMPD3 (G368S +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 302166	NM_001025389.2(AMPD3):c.1131C>T (p.His377=)	AMPD3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 768426	NM_001025389.2(AMPD3):c.1363T>C (p.Tyr455His)	AMPD3 (Y455H +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign

ClinVar