C2675210[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 866234	NM_006017.3(PROM1):c.2446G>C (p.Ala816Pro)	PROM1 (A816P +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +5 more	GUncertain significance
Select item 866133	NM_006017.3(PROM1):c.2327A>T (p.Asp776Val)	PROM1 (D767V +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
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 1495448	NM_006017.3(PROM1):c.1450A>G (p.Met484Val)	PROM1 (M484V +1 more)	Single nucleotide variant (missense variant)	Retinal macular dystrophy type 2 +4 more	GUncertain significance
Select item 809626	NM_006017.3(PROM1):c.1142-1G>A	PROM1	Single nucleotide variant (splice acceptor variant)	Cone-rod dystrophy 12 +5 more	GPathogenic/Likely pathogenic
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
Select item 348005	NM_006017.3(PROM1):c.631-14T>C	PROM1	Single nucleotide variant (intron variant)	Retinitis pigmentosa +5 more	GBenign/Likely benign
Select item 191189	NM_006017.3(PROM1):c.604C>G (p.Arg202Gly)	PROM1 (R202G +1 more)	Single nucleotide variant (missense variant)	Retinal macular dystrophy type 2 +5 more	GConflicting classifications of pathogenicity
Select item 348014	NM_006017.3(PROM1):c.-127A>G	PROM1	Single nucleotide variant (5 prime UTR variant)	Retinal macular dystrophy type 2 +4 more	GUncertain significance