"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "AMPD1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 547862	NM_000036.3(AMPD1):c.2182C>T (p.Arg728Cys)	AMPD1 (R761C +2 more)	Single nucleotide variant (missense variant)	Muscle AMP deaminase deficiency	GUncertain significance
Select item 559257	NM_000036.3(AMPD1):c.1794A>T (p.Leu598Phe)	AMPD1 (L631F +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 92331	NM_000036.3(AMPD1):c.1224+8G>A	AMPD1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 92330	NM_000036.3(AMPD1):c.930G>T (p.Met310Ile)	AMPD1 (M343I +2 more)	Single nucleotide variant (missense variant)	Muscle AMP deaminase deficiency +2 more	GConflicting classifications of pathogenicity
Select item 92338	NM_000036.3(AMPD1):c.860A>T (p.Lys287Ile)	AMPD1 (K320I +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 559258	NM_000036.3(AMPD1):c.512G>A (p.Gly171Asp)	AMPD1 (G204D +2 more)	Single nucleotide variant (missense variant)	Muscle AMP deaminase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 92335	NM_000036.3(AMPD1):c.215+10G>A	AMPD1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 559259	NM_000036.3(AMPD1):c.63T>C (p.Ala21=)	AMPD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

ClinVar