"Clinical Genetics, Academic Medical Center"[submitter] AND "PROM1"[ge - 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 95329	NM_006017.3(PROM1):c.1977C>T (p.Asn659=)	PROM1	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa +5 more	GConflicting classifications of pathogenicity
Select item 347988	NM_006017.3(PROM1):c.1579-6T>C	PROM1	Single nucleotide variant (intron variant)	Retinitis pigmentosa +4 more	GConflicting classifications of pathogenicity
Select item 167535	NM_006017.3(PROM1):c.1497C>T (p.Ile499=)	PROM1	Single nucleotide variant (synonymous variant)	Stargardt disease 4 +5 more	GConflicting classifications of pathogenicity
Select item 866793	NM_006017.3(PROM1):c.1414C>T (p.Arg472Ter)	PROM1 (R463* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1328094	NM_006017.3(PROM1):c.1302G>A (p.Trp434Ter)	PROM1 (W425* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 5610	NM_006017.3(PROM1):c.1117C>T (p.Arg373Cys)	PROM1 (R373C +1 more)	Single nucleotide variant (missense variant)	not provided +6 more	GPathogenic

ClinVar