"Fulgent Genetics, Fulgent Genetics"[submitter] AND "RP1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 196435	NM_006269.2(RP1):c.616-6T>C	RP1	Single nucleotide variant (intron variant)	Retinitis pigmentosa 1 +3 more	GBenign/Likely benign
Select item 5970	NM_006269.2(RP1):c.1118C>T (p.Thr373Ile)	RP1 (T373I)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 849071	NM_006269.2(RP1):c.1468G>T (p.Glu490Ter)	RP1 (E490*)	Single nucleotide variant (nonsense +1 more)	Retinitis pigmentosa 1 +1 more	GPathogenic/Likely pathogenic
Select item 1063263	NM_006269.2(RP1):c.1661G>A (p.Ser554Asn)	RP1 (S554N)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 1 +1 more	GUncertain significance
Select item 167603	NM_006269.2(RP1):c.2716G>A (p.Ala906Thr)	RP1 (A906T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1102392	NM_006269.2(RP1):c.4665A>G (p.Gly1555=)	RP1	Single nucleotide variant (synonymous variant +1 more)	Retinitis pigmentosa 1 +1 more	GLikely benign
Select item 1444098	NM_006269.2(RP1):c.5002A>G (p.Arg1668Gly)	LOC126860392, RP1 (R1668G)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 363309	NM_006269.2(RP1):c.5701C>T (p.Leu1901Phe)	RP1, LOC126860392 (L1901F)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign

ClinVar