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

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 452759	NM_002295.6(RPSA):c.100A>G (p.Met34Val)	RPSA (M34V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 451245	NM_002295.6(RPSA):c.498+3A>C	RPSA	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 64675	NM_002295.6(RPSA):c.556C>T (p.Arg186Cys)	RPSA (R186C +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3371306	NM_002295.6(RPSA):c.557G>T (p.Arg186Leu)	RPSA (R186L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 253959	GRCh37/hg19 3p22.1(chr3:39449057-39453982)x3	SNORA62, RPSA	Copy number gain	See cases	GUncertain significance
Select item 253356	GRCh37/hg19 3p22.2-21.31(chr3:37028313-49929220)x3	ABHD5, ACAA1 +177 more	Copy number gain	See cases	GLikely pathogenic

ClinVar