"PreventionGenetics, part of Exact Sciences"[submitter] AND "RP1"[gene - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1084587	NM_006269.2(RP1):c.315A>G (p.Leu105=)	RP1	Single nucleotide variant (synonymous variant)	RP1-related disorder +1 more	GLikely benign
Select item 287294	NM_006269.2(RP1):c.382C>A (p.Leu128Ile)	RP1 (L128I)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 985322	NM_006269.2(RP1):c.458dup (p.Arg154fs)	RP1 (R154fs)	Duplication (frameshift variant)	RP1-related disorder +2 more	GPathogenic/Likely pathogenic
Select item 2633149	NM_006269.2(RP1):c.1938_1941del (p.Ile646fs)	RP1 (I646fs)	Microsatellite (frameshift variant +1 more)	RP1-related disorder	GPathogenic
Select item 5969	NM_006269.2(RP1):c.2953A>T (p.Asn985Tyr)	RP1 (N985Y)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +4 more	GBenign/Likely benign
Select item 862589	NM_006269.2(RP1):c.3040G>C (p.Asp1014His)	RP1 (D1014H)	Single nucleotide variant (missense variant +1 more)	RP1-related disorder +2 more	GUncertain significance
Select item 363290	NM_006269.2(RP1):c.3198G>A (p.Glu1066=)	RP1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 197275	NM_006269.2(RP1):c.3826C>T (p.Pro1276Ser)	RP1 (P1276S)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 912236	NM_006269.2(RP1):c.4250T>C (p.Leu1417Pro)	RP1 (L1417P)	Single nucleotide variant (missense variant +1 more)	RP1-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 721026	NM_006269.2(RP1):c.4908C>T (p.Tyr1636=)	LOC126860392, RP1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 1148883	NM_006269.2(RP1):c.4954C>T (p.Arg1652Cys)	RP1, LOC126860392 (R1652C)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign
Select item 1116315	NM_006269.2(RP1):c.5256T>C (p.His1752=)	RP1, LOC126860392	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 363308	NM_006269.2(RP1):c.5624G>C (p.Gly1875Ala)	LOC126860392, RP1 (G1875A)	Single nucleotide variant (missense variant)	not specified +3 more	GLikely benign
Select item 95357	NM_006269.2(RP1):c.6098G>A (p.Cys2033Tyr)	RP1 (C2033Y)	Single nucleotide variant (missense variant)	Retinal dystrophy +4 more	GBenign/Likely benign
Select item 1623822	NM_006269.2(RP1):c.6108C>T (p.Phe2036=)	RP1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign