C0543514[trait identifier] AND "GeneReviews"[submitter] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 198067	NM_000293.3(PHKB):c.555G>T (p.Met185Ile)	PHKB (M185I +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 281127	NM_000293.3(PHKB):c.1969C>A (p.Gln657Lys)	PHKB (Q657K +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity