"GeneDx"[submitter] AND "PRPF6"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152840	GRCh38/hg38 20q13.31-13.33(chr20:57229415-64273089)x3	LOC130066383, LOC130066384 +464 more	Copy number gain	See cases	GPathogenic
Select item 3363287	NM_012469.4(PRPF6):c.1518G>C (p.Trp506Cys)	LOC126863089, PRPF6 (W506C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3370849	NM_012469.4(PRPF6):c.1679G>A (p.Arg560Gln)	PRPF6 (R560Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1314862	NM_012469.4(PRPF6):c.1769+3A>G	PRPF6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1128279	NM_012469.4(PRPF6):c.2431+15_2431+36dup	PRPF6	Duplication (splice donor variant)	not provided	GConflicting classifications of pathogenicity
Select item 1307732	NM_012469.4(PRPF6):c.2456T>G (p.Phe819Cys)	PRPF6 (F819C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 253445	GRCh37/hg19 20q13.33(chr20:61827144-62907526)x1	PPDPF, OPRL1 +35 more	Copy number loss	See cases	GPathogenic

ClinVar