"Molecular Genetics Laboratory, Institute for Ophthalmic Research"[sub - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 813202	NM_006017.3(PROM1):c.2414dup (p.Leu805fs)	PROM1 (L796fs +1 more)	Duplication (frameshift variant)	not provided +1 more	GPathogenic
Select item 813203	NM_006017.3(PROM1):c.2211+1G>A	PROM1	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic
Select item 190373	NM_006017.3(PROM1):c.2077-521A>G	PROM1	Single nucleotide variant (intron variant)	Cone-rod dystrophy 2 +1 more	GPathogenic/Likely 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 813204	NM_006017.3(PROM1):c.1767+4A>G	PROM1	Single nucleotide variant (intron variant)	Isolated macular dystrophy	GPathogenic
Select item 444632	NM_006017.3(PROM1):c.1578+1G>A	PROM1	Single nucleotide variant (splice donor variant)	Retinal dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 623211	NM_006017.3(PROM1):c.1301+2T>C	PROM1	Single nucleotide variant (splice donor variant)	not provided +3 more	GPathogenic/Likely pathogenic

ClinVar