"Revvity Omics, Revvity"[submitter] AND "PROM1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 867032	NM_006017.3(PROM1):c.2490-2A>G	PROM1	Single nucleotide variant (splice acceptor variant +1 more)	Retinal macular dystrophy type 2 +2 more	GConflicting classifications of pathogenicity
Select item 2689829	NM_006017.3(PROM1):c.2231G>C (p.Arg744Thr)	PROM1 (R735T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432852	NM_006017.3(PROM1):c.2212-1G>A	PROM1	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 425331	NM_006017.3(PROM1):c.1946C>T (p.Ser649Leu)	PROM1 (S649L +1 more)	Single nucleotide variant (missense variant)	Stargardt disease 4 +5 more	GConflicting classifications of pathogenicity
Select item 236524	NM_006017.3(PROM1):c.1632G>T (p.Gly544=)	PROM1	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa 41 +4 more	GUncertain significance
Select item 1584467	NM_006017.3(PROM1):c.1320C>T (p.Val440=)	PROM1	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 1433373	NM_006017.3(PROM1):c.896G>A (p.Arg299Gln)	PROM1 (R290Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

ClinVar