"GeneDx"[submitter] AND "PRPF4"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59881	GRCh38/hg38 9q22.1-32(chr9:88522292-113687796)x3	LOC130002218, LOC130002219 +994 more	Copy number gain	See cases	GPathogenic
Select item 59123	GRCh38/hg38 9q22.33-33.1(chr9:99349916-115767475)x1	CT70, CTNNAL1 +509 more	Copy number loss	See cases	GPathogenic
Select item 933299	NM_001244926.2(PRPF4):c.8C>T (p.Ser3Phe)	PRPF4 (S3F)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1802048	NM_001244926.2(PRPF4):c.235A>G (p.Ser79Gly)	PRPF4 (S79G +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 253402	GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic
Select item 3359348	NM_001244926.2(PRPF4):c.1496T>C (p.Ile499Thr)	PRPF4 (I257T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

ClinVar