"Laboratory of Genetics in Ophthalmology, Institut Imagine"[submitter] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 195355	NM_020366.4(RPGRIP1):c.154C>T (p.Arg52Ter)	RPGRIP1 (R52*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 99825	NM_020366.4(RPGRIP1):c.511del (p.Tyr171fs)	RPGRIP1 (Y171fs)	Deletion (frameshift variant)	Leber congenital amaurosis 6	GPathogenic
Select item 981632	NM_020366.4(RPGRIP1):c.521C>G (p.Pro174Arg)	RPGRIP1 (P174R)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 6	GLikely pathogenic
Select item 156387	NM_020366.4(RPGRIP1):c.832C>T (p.Arg278Ter)	RPGRIP1 (R278*)	Single nucleotide variant (nonsense)	Leber congenital amaurosis 6 +1 more	GPathogenic
Select item 814018	NM_020366.4(RPGRIP1):c.895_896del (p.Glu299fs)	RPGRIP1 (E299fs)	Deletion (frameshift variant)	Leber congenital amaurosis 6	GPathogenic
Select item 99809	NM_020366.4(RPGRIP1):c.1107del (p.Glu370fs)	RPGRIP1 (E370fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic
Select item 438160	NM_020366.4(RPGRIP1):c.1116del (p.Lys372fs)	RPGRIP1 (K372fs)	Deletion (frameshift variant)	Cone-rod dystrophy 13 +1 more	GPathogenic
Select item 981639	NM_020366.4(RPGRIP1):c.1133dup (p.Tyr378Ter)	RPGRIP1 (Y378*)	Duplication (nonsense)	Leber congenital amaurosis 6	GPathogenic
Select item 981640	NM_020366.4(RPGRIP1):c.1447C>T (p.Gln483Ter)	RPGRIP1 (Q125* +1 more)	Single nucleotide variant (nonsense +1 more)	Cone-rod dystrophy 13 +1 more	GPathogenic
Select item 425034	NM_020366.4(RPGRIP1):c.1611G>A (p.Gln537=)	RPGRIP1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 981641	NM_020366.4(RPGRIP1):c.1687C>T (p.Arg563Ter)	RPGRIP1 (R205* +2 more)	Single nucleotide variant (nonsense)	Cone-rod dystrophy 13 +1 more	GPathogenic
Select item 981642	NM_020366.4(RPGRIP1):c.2086G>T (p.Glu696Ter)	RPGRIP1 (E338* +1 more)	Single nucleotide variant (nonsense +1 more)	Leber congenital amaurosis 6	GPathogenic
Select item 981643	NM_020366.4(RPGRIP1):c.2239del (p.Val747fs)	RPGRIP1 (V389fs +1 more)	Deletion (frameshift variant +1 more)	Leber congenital amaurosis 6	GPathogenic
Select item 99814	NM_020366.4(RPGRIP1):c.2237G>A (p.Gly746Glu)	RPGRIP1 (G746E +1 more)	Single nucleotide variant (missense variant +1 more)	Leber congenital amaurosis 6	GLikely pathogenic
Select item 813992	NM_020366.4(RPGRIP1):c.2367+23del	RPGRIP1	Deletion (intron variant)	Leber congenital amaurosis 6 +3 more	GConflicting classifications of pathogenicity
Select item 501219	NM_020366.4(RPGRIP1):c.2554C>T (p.Arg852Ter)	RPGRIP1 (R852* +1 more)	Single nucleotide variant (nonsense +1 more)	Leber congenital amaurosis 6 +3 more	GPathogenic/Likely pathogenic
Select item 523527	NM_020366.4(RPGRIP1):c.2567_2568dup (p.Val857fs)	RPGRIP1 (V857fs +1 more)	Duplication (frameshift variant +1 more)	Color vision defect +3 more	GLikely pathogenic
Select item 981636	NM_020366.4(RPGRIP1):c.2710+1G>A	RPGRIP1	Single nucleotide variant (splice donor variant +1 more)	Leber congenital amaurosis 6	GPathogenic
Select item 560506	NM_020366.4(RPGRIP1):c.2718dup (p.Asn907Ter)	RPGRIP1 (N907* +4 more)	Duplication (nonsense)	Retinal dystrophy +3 more	GPathogenic/Likely pathogenic
Select item 191284	NM_020366.4(RPGRIP1):c.2876del (p.Lys959fs)	RPGRIP1 (K959fs +4 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 438162	NM_020366.4(RPGRIP1):c.2890del (p.Ser964fs)	RPGRIP1 (S964fs +4 more)	Deletion (frameshift variant)	Retinitis pigmentosa +1 more	GPathogenic/Likely pathogenic
Select item 981635	NM_020366.4(RPGRIP1):c.2895+1G>A	RPGRIP1	Single nucleotide variant (splice donor variant)	Leber congenital amaurosis 6	GPathogenic
Select item 981634	NM_020366.4(RPGRIP1):c.2895+1G>T	RPGRIP1	Single nucleotide variant (splice donor variant)	Leber congenital amaurosis +2 more	GPathogenic
Select item 438163	NM_020366.4(RPGRIP1):c.2941C>T (p.Arg981Ter)	RPGRIP1 (R981* +4 more)	Single nucleotide variant (nonsense)	Leber congenital amaurosis +3 more	GPathogenic
Select item 981645	NM_020366.4(RPGRIP1):c.3239-1_3241del	RPGRIP1 (D241fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 981633	NM_020366.4(RPGRIP1):c.3339+2477_3533-151del	RPGRIP1	Deletion (splice acceptor variant +1 more)	Leber congenital amaurosis 6	GPathogenic
Select item 981646	NM_020366.4(RPGRIP1):c.3427del (p.Tyr1143fs)	RPGRIP1 (Y1143fs +4 more)	Deletion (frameshift variant)	Leber congenital amaurosis 6	GPathogenic
Select item 381684	NM_020366.4(RPGRIP1):c.3565C>T (p.Arg1189Ter)	RPGRIP1 (R1189* +4 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 981637	NM_020366.4(RPGRIP1):c.3629_3630insG (p.Val1211fs)	RPGRIP1 (V1211fs +4 more)	Insertion (frameshift variant)	Leber congenital amaurosis 6 +1 more	GPathogenic
Select item 981647	NM_020366.4(RPGRIP1):c.3679G>A (p.Gly1227Arg)	RPGRIP1 (G1227R +4 more)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 6	GLikely pathogenic
Select item 2574659	NM_020366.4:c.1077+1_3100-1dup	RPGRIP1	Duplication	Leber congenital amaurosis 6	GUncertain significance
Select item 981919	NM_020366.3:c.(930+1_931-1)_(1151+1_1152-1)del	RPGRIP1	Deletion	Leber congenital amaurosis 6	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 32