Related gene-specific medical variations for Gene (Select 272) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065721	NM_001025389.2(AMPD3):c.1815_1816del (p.Ile606fs)	AMPD3 (I447fs +3 more)	Deletion (frameshift variant)	Erythrocyte AMP deaminase deficiency	GLikely pathogenic
Select item 1319361	NM_001025389.2(AMPD3):c.-157T>C	AMPD3	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1319360	NM_001025389.2(AMPD3):c.1557+834G>A	AMPD3	Single nucleotide variant (intron variant)	not provided	GUncertain significance

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