"NIHR Bioresource Rare Diseases, University of Cambridge"[submitter] A - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 438254	Single allele	LOC126860392, RP1	Deletion	Retinitis pigmentosa	GLikely pathogenic
Select item 195261	NM_006269.2(RP1):c.515T>G (p.Leu172Arg)	RP1 (L172R)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +2 more	GConflicting classifications of pathogenicity
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 437947	NM_006269.2(RP1):c.1498_1499del (p.Met500fs)	RP1 (M500fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 236416	NM_006269.2(RP1):c.2032C>T (p.Gln678Ter)	RP1 (Q678*)	Single nucleotide variant (nonsense)	Retinal dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 437948	NM_006269.2(RP1):c.2056C>T (p.Gln686Ter)	RP1 (Q686*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 437949	NM_006269.2(RP1):c.2083del (p.Ile695fs)	RP1 (I695fs)	Deletion (frameshift variant)	Retinitis pigmentosa	GLikely pathogenic
Select item 437950	NM_006269.2(RP1):c.2172_2185del (p.Ile725fs)	RP1 (I725fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 437951	NM_006269.2(RP1):c.2206dup (p.Thr736fs)	RP1 (T736fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 437952	NM_006269.2(RP1):c.2219C>G (p.Ser740Ter)	RP1 (S740*)	Single nucleotide variant (nonsense)	Retinal dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 5966	NM_006269.2(RP1):c.2285_2289del (p.Leu762fs)	RP1 (L762fs)	Microsatellite (frameshift variant +1 more)	Retinal dystrophy +1 more	GPathogenic
Select item 437953	NM_006269.2(RP1):c.2321del (p.Leu773_Leu774insTer)	RP1	Deletion (nonsense)	Retinitis pigmentosa	GLikely pathogenic
Select item 437954	NM_006269.2(RP1):c.2596_2597del (p.Leu866fs)	RP1 (L866fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 437955	NM_006269.2(RP1):c.2613dup (p.Arg872fs)	RP1 (R872fs)	Duplication (frameshift variant)	Retinal dystrophy +3 more	GPathogenic/Likely pathogenic
Select item 437956	NM_006269.2(RP1):c.2656C>T (p.Gln886Ter)	RP1 (Q886*)	Single nucleotide variant (nonsense)	Retinal dystrophy	GLikely pathogenic
Select item 437957	NM_006269.2(RP1):c.3843del (p.Pro1282fs)	RP1 (P1282fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 437958	NM_006269.2(RP1):c.5883del (p.Thr1962fs)	LOC126860392, RP1 (T1962fs)	Deletion (frameshift variant)	Retinitis pigmentosa	GLikely pathogenic