"Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic C - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 992300	NM_000036.3(AMPD1):c.2113T>C (p.Tyr705His)	AMPD1 (Y705H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2046342	NM_000036.3(AMPD1):c.1330G>A (p.Val444Ile)	AMPD1 (V440I +1 more)	Single nucleotide variant (missense variant)	Muscle AMP deaminase deficiency +1 more	GUncertain significance