"Revvity Omics, Revvity"[submitter] AND "RP1"[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1323531	NM_006269.2(RP1):c.257dup (p.Arg87fs)	RP1 (R87fs)	Duplication (frameshift variant)	Retinitis pigmentosa 1	GPathogenic
Select item 979011	NM_006269.2(RP1):c.606C>A (p.Asp202Glu)	RP1 (D202E)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 1 +1 more	GPathogenic/Likely pathogenic
Select item 2435464	NM_006269.2(RP1):c.871G>T (p.Asp291Tyr)	RP1 (D291Y)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 1	GUncertain significance
Select item 871848	NM_006269.2(RP1):c.1012C>T (p.Arg338Ter)	RP1 (R338*)	Single nucleotide variant (nonsense +1 more)	Retinitis pigmentosa 1 +1 more	GPathogenic
Select item 811132	NM_006269.2(RP1):c.1380G>C (p.Lys460Asn)	RP1 (K460N)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa +2 more	GConflicting classifications of pathogenicity
Select item 1429881	NM_006269.2(RP1):c.1516A>G (p.Ser506Gly)	RP1 (S506G)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 1 +1 more	GUncertain significance
Select item 935038	NM_006269.2(RP1):c.3340G>C (p.Gly1114Arg)	RP1 (G1114R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 979006	NM_006269.2(RP1):c.3428del (p.Asn1143fs)	RP1 (N1143fs)	Deletion (frameshift variant +1 more)	Retinitis pigmentosa 1	GPathogenic/Likely pathogenic
Select item 953818	NM_006269.2(RP1):c.4783C>T (p.Arg1595Trp)	RP1 (R1595W)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 1325010	NM_006269.2(RP1):c.5248G>T (p.Glu1750Ter)	LOC126860392, RP1 (E1750*)	Single nucleotide variant (nonsense +1 more)	Retinitis pigmentosa 1	GLikely pathogenic
Select item 197270	NM_006269.2(RP1):c.6196G>A (p.Asp2066Asn)	RP1 (D2066N)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 1 +2 more	GConflicting classifications of pathogenicity