"GeneDx"[submitter] AND "LOC124629354"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2581998	NM_006262.4(PRPH):c.931G>C (p.Glu311Gln)	LOC124629354, PRPH +1 more (E311Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 425005	NM_006262.4(PRPH):c.996+1G>A	LOC124629354, PRPH +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign/Likely benign
Select item 66705	NM_006262.4(PRPH):c.1083C>G (p.Leu361=)	LOC124629354, PRPH +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 66706	NM_006262.4(PRPH):c.1107A>G (p.Lys369=)	LOC124629354, PRPH +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 66708	NM_006262.4(PRPH):c.1217+27C>A	LOC124629354, PRPH +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 66710	NM_006262.4(PRPH):c.1217+43C>A	LOC124629354, PRPH +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign

ClinVar