Related gene-specific medical variations for Gene (Select 9625) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2486292	NM_001080395.3(AATK):c.3914C>T (p.Pro1305Leu)	AATK, LOC112533680 (P1305L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379167	NM_001080395.3(AATK):c.8C>G (p.Ser3Trp)	AATK, PVALEF (S3W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance