"Baylor Genetics"[submitter] AND "AMPD1"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1030545	NM_000036.3(AMPD1):c.2181T>A (p.Tyr727Ter)	AMPD1 (Y727* +1 more)	Single nucleotide variant (nonsense)	Muscle AMP deaminase deficiency	GLikely pathogenic
Select item 291933	NM_000036.3(AMPD1):c.424C>T (p.Arg142Trp)	AMPD1 (R175W +2 more)	Single nucleotide variant (missense variant)	Muscle AMP deaminase deficiency	GUncertain significance
Select item 1033604	NM_000036.3(AMPD1):c.-60dup	AMPD1	Duplication (5 prime UTR variant)	Muscle AMP deaminase deficiency	GUncertain significance

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