"PRKD2-related disorder"[Disease/phenotype] AND "PreventionGenetics, p - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3054886	NM_016457.5(PRKD2):c.1480G>A (p.Ala494Thr)	PRKD2 (A337T +1 more)	Single nucleotide variant (missense variant)	PRKD2-related disorder	GLikely benign
Select item 3053073	NM_016457.5(PRKD2):c.1009_1010del (p.Lys337fs)	PRKD2 (K180fs +1 more)	Deletion (frameshift variant)	PRKD2-related disorder	GUncertain significance
Select item 3044983	NM_016457.5(PRKD2):c.572C>T (p.Ala191Val)	PRKD2 (A191V +1 more)	Single nucleotide variant (missense variant)	PRKD2-related disorder	GLikely benign

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