ClinVar (all) for Orgtrack (Select 506232) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 812468	NC_000006.11:g.65376653_65743428del	EYS	Deletion	Retinitis pigmentosa	GPathogenic
Select item 812467	NC_000006.11:g.64666416_66194230del	EYS	Deletion	Retinitis pigmentosa	GPathogenic
Select item 812466	NM_024741.3(ZNF408):c.1697T>A (p.Leu566His)	ZNF408 (L566H +1 more)	Single nucleotide variant (missense variant)	Familial exudative vitreoretinopathy	GPathogenic
Select item 812465	NM_024741.3(ZNF408):c.1174T>C (p.Ser392Pro)	ZNF408 (S384P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 812464	NM_152564.5(VPS13B):c.5342dup (p.Gln1782fs)	VPS13B (Q1807fs +1 more)	Duplication (frameshift variant)	Cohen syndrome	GPathogenic
Select item 812463	NM_206933.4(USH2A):c.377del (p.Ser126fs)	USH2A (S126fs)	Deletion (frameshift variant)	Retinitis pigmentosa	GPathogenic
Select item 812462	NM_206933.4(USH2A):c.754G>T (p.Gly252Cys)	USH2A (G252C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 812461	NM_206933.4(USH2A):c.1840G>A (p.Gly614Arg)	USH2A (G614R)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 812460	NM_206933.4(USH2A):c.1856T>C (p.Leu619Pro)	USH2A (L619P)	Single nucleotide variant (missense variant)	Usher syndrome type 2	GLikely pathogenic
Select item 812459	NM_206933.4(USH2A):c.2109T>G (p.Asp703Glu)	USH2A (D703E)	Single nucleotide variant (missense variant)	Usher syndrome type 2	GLikely pathogenic
Select item 812458	NM_206933.4(USH2A):c.2296T>C (p.Cys766Arg)	USH2A (C766R)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +5 more	GPathogenic/Likely pathogenic
Select item 812457	NM_206933.4(USH2A):c.3086G>C (p.Gly1029Ala)	USH2A, USH2A-AS1 (G1029A)	Single nucleotide variant (missense variant)	Retinitis pigmentosa	GLikely pathogenic
Select item 812456	NM_206933.4(USH2A):c.4544C>T (p.Thr1515Met)	USH2A (T1515M)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39 +3 more	GUncertain significance
Select item 812455	NM_206933.4(USH2A):c.5519G>T (p.Gly1840Val)	USH2A-AS2, USH2A (G1840V)	Single nucleotide variant (missense variant)	Usher syndrome type 2	GPathogenic
Select item 812454	NM_206933.4(USH2A):c.8721T>A (p.Ser2907Arg)	USH2A (S2907R)	Single nucleotide variant (missense variant)	Usher syndrome type 2	GLikely pathogenic
Select item 812453	NM_206933.4(USH2A):c.9419T>A (p.Ile3140Asn)	USH2A (I3140N)	Single nucleotide variant (missense variant)	Retinitis pigmentosa	GLikely pathogenic
Select item 812452	NM_206933.4(USH2A):c.10211del (p.Pro3404fs)	USH2A (P3404fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 812451	NM_206933.4(USH2A):c.10733G>A (p.Ser3578Asn)	USH2A (S3578N)	Single nucleotide variant (missense variant)	Retinitis pigmentosa	GLikely pathogenic
Select item 812450	NM_206933.4(USH2A):c.12114del (p.Tyr4039fs)	USH2A (Y4039fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 812449	NM_206933.4(USH2A):c.13604T>G (p.Met4535Arg)	USH2A (M4535R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 812448	NM_206933.4(USH2A):c.14023A>T (p.Arg4675Ter)	USH2A (R4675*)	Single nucleotide variant (nonsense)	Usher syndrome type 2	GPathogenic
Select item 812447	NM_206933.4(USH2A):c.14350G>A (p.Glu4784Lys)	USH2A (E4784K)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 812446	NM_206933.4(USH2A):c.15143C>T (p.Ala5048Val)	USH2A (A5048V)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 812445	NM_206933.3(USH2A):c.[12448A>G;5012G>A]	USH2A-AS2, USH2A (G1671D +1 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa	GLikely pathogenic
Select item 812444	NM_173477.5(USH1G):c.205dup (p.Leu69fs)	USH1G (L69fs)	Duplication (frameshift variant +1 more)	Usher syndrome type 1	GPathogenic
Select item 812443	NM_003322.6(TULP1):c.528_529insT (p.Lys177Ter)	TULP1 (K124* +1 more)	Insertion (nonsense)	Leber congenital amaurosis	GPathogenic
Select item 812442	NM_003322.6(TULP1):c.781_782insCTCC (p.Lys261fs)	TULP1 (K261fs +1 more)	Insertion (frameshift variant)	Leber congenital amaurosis	GPathogenic
Select item 812441	NM_003322.6(TULP1):c.832_833insTCCC (p.Glu278fs)	TULP1 (E225fs +1 more)	Insertion (frameshift variant)	Leber congenital amaurosis	GPathogenic
Select item 812440	NM_003322.6(TULP1):c.1047T>G (p.Asn349Lys)	TULP1 (N296K +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 812439	NM_003322.6(TULP1):c.1301G>A (p.Arg434Lys)	TULP1 (R381K +1 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa	GPathogenic
Select item 812438	NM_003322.6(TULP1):c.1349G>A (p.Trp450Ter)	TULP1 (W450* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 812437	NM_003322.6(TULP1):c.1495+2dup	TULP1	Duplication (splice donor variant)	not provided	GPathogenic
Select item 812436	NM_015072.5(TTLL5):c.2136+1G>A	TTLL5	Single nucleotide variant (splice donor variant)	Retinitis pigmentosa	GPathogenic
Select item 812435	NM_001252024.2(TRPM1):c.946A>T (p.Lys316Ter)	TRPM1 (K294* +2 more)	Single nucleotide variant (nonsense)	Congenital stationary night blindness	GPathogenic
Select item 812434	NM_001252024.2(TRPM1):c.2633G>A (p.Trp878Ter)	TRPM1 (W856* +2 more)	Single nucleotide variant (nonsense)	TRPM1-related disorder	GPathogenic
Select item 812433	NM_005802.5(TOPORS):c.2524dup (p.Thr842fs)	TOPORS (T842fs +1 more)	Duplication (frameshift variant)	Retinal dystrophy	GLikely pathogenic
Select item 812432	NM_001077418.3(TMEM231):c.352T>G (p.Leu118Val)	TMEM231 (L118V +1 more)	Single nucleotide variant (missense variant +1 more)	Ciliopathy	GPathogenic
Select item 812431	NM_014014.5(SNRNP200):c.2042G>T (p.Arg681Leu)	SNRNP200 (R681L)	Single nucleotide variant (missense variant)	Retinitis pigmentosa	GLikely pathogenic
Select item 812430	NM_006642.5(SDCCAG8):c.1714C>T (p.Gln572Ter)	SDCCAG8 (Q474* +3 more)	Single nucleotide variant (nonsense)	Renal dysplasia and retinal aplasia	GPathogenic
Select item 812429	NM_000330.4(RS1):c.632C>T (p.Ala211Val)	CDKL5, RS1 (A211V)	Single nucleotide variant (missense variant +1 more)	Retinoschisis	GPathogenic
Select item 812428	NM_020366.4(RPGRIP1):c.3663_3666del (p.Lys1221fs)	RPGRIP1 (K1221fs +4 more)	Microsatellite (frameshift variant)	Leber congenital amaurosis 6 +1 more	GPathogenic
Select item 812427	NM_020366.4(RPGRIP1):c.2974del (p.Arg992fs)	RPGRIP1 (R992fs +4 more)	Deletion (frameshift variant)	Leber congenital amaurosis 6 +1 more	GPathogenic
Select item 812426	NM_020366.4(RPGRIP1):c.2935C>T (p.Gln979Ter)	RPGRIP1 (Q979* +4 more)	Single nucleotide variant (nonsense)	Leber congenital amaurosis 6 +1 more	GPathogenic
Select item 812425	NM_020366.4(RPGRIP1):c.2249A>G (p.Tyr750Cys)	RPGRIP1 (Y750C +1 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa	GLikely pathogenic
Select item 812424	NM_020366.4(RPGRIP1):c.1615_1624del (p.Glu539fs)	RPGRIP1 (E539fs +2 more)	Deletion (frameshift variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 812423	NM_001034853.2(RPGR):c.202G>C (p.Gly68Arg)	RPGR (G68R +1 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 812422	NM_001034853.2(RPGR):c.259G>T (p.Glu87Ter)	RPGR (E87* +1 more)	Single nucleotide variant (nonsense +1 more)	Retinitis pigmentosa	GPathogenic
Select item 812421	NM_001034853.2(RPGR):c.494G>A (p.Gly165Asp)	RPGR (G164D +2 more)	Single nucleotide variant (missense variant +1 more)	X-linked cone-rod dystrophy 1	GLikely pathogenic
Select item 812420	NM_001034853.2(RPGR):c.592G>A (p.Gly198Arg)	RPGR (G197R +2 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GLikely pathogenic
Select item 812419	NM_001034853.2(RPGR):c.897dup (p.Ile300fs)	RPGR (I299fs +2 more)	Duplication (frameshift variant +1 more)	Retinitis pigmentosa	GPathogenic
Select item 812418	NM_001034853.2(RPGR):c.1243_1244del (p.Arg415fs)	RPGR (R414fs +2 more)	Microsatellite (frameshift variant +2 more)	Retinal dystrophy +2 more	GPathogenic
Select item 812417	NM_001034853.2(RPGR):c.1334C>G (p.Ser445Ter)	RPGR (S383* +3 more)	Single nucleotide variant (nonsense +1 more)	Retinitis pigmentosa	GPathogenic
Select item 812416	NM_001034853.2(RPGR):c.1572+1G>A	RPGR	Single nucleotide variant (splice donor variant)	Primary ciliary dyskinesia	GPathogenic
Select item 812415	NM_001034853.2(RPGR):c.2173C>T (p.Gln725Ter)	RPGR (Q725*)	Single nucleotide variant (nonsense +1 more)	Primary ciliary dyskinesia +1 more	GPathogenic
Select item 812414	NM_001034853.2(RPGR):c.2221_2224del (p.Glu741fs)	RPGR (E741fs)	Deletion (frameshift variant +1 more)	Retinitis pigmentosa	GPathogenic
Select item 812413	NM_001034853.2(RPGR):c.2272G>T (p.Glu758Ter)	RPGR (E758*)	Single nucleotide variant (nonsense +1 more)	Retinitis pigmentosa	GPathogenic
Select item 812412	NM_001034853.2(RPGR):c.2772_2773dup (p.Gly925fs)	RPGR (G925fs)	Duplication (frameshift variant +1 more)	Retinitis pigmentosa	GPathogenic
Select item 812411	NM_001034853.2(RPGR):c.2790_2791del (p.Glu931fs)	RPGR (E931fs)	Deletion (frameshift variant +1 more)	Primary ciliary dyskinesia +2 more	GPathogenic
Select item 812410	NM_001034853.2(RPGR):c.2797del (p.Glu933fs)	RPGR (E933fs)	Deletion (frameshift variant +1 more)	Retinitis pigmentosa	GPathogenic
Select item 812409	NM_001034853.2(RPGR):c.2964_2965del (p.Glu989fs)	RPGR (E989fs)	Deletion (frameshift variant +1 more)	not provided +2 more	GPathogenic
Select item 812408	NM_000329.3(RPE65):c.227A>C (p.His76Pro)	RPE65 (H76P)	Single nucleotide variant (missense variant)	Leber congenital amaurosis	GPathogenic
Select item 812407	NM_000329.3(RPE65):c.722A>T (p.His241Leu)	RPE65 (H241L)	Single nucleotide variant (missense variant)	Retinitis pigmentosa	GPathogenic
Select item 812406	NM_006915.3(RP2):c.530_531del (p.Phe177fs)	RP2 (F177fs)	Deletion (frameshift variant)	Retinitis pigmentosa	GPathogenic
Select item 812405	NM_006915.3(RP2):c.364del (p.Cys122fs)	RP2 (C122fs)	Deletion (frameshift variant)	Retinitis pigmentosa	GPathogenic
Select item 812404	NM_006915.3(RP2):c.328T>C (p.Cys110Arg)	RP2 (C110R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 812403	NM_006915.3(RP2):c.102+1G>T	RP2	Single nucleotide variant (splice donor variant)	Retinitis pigmentosa	GPathogenic
Select item 812402	NM_006915.3(RP2):c.25_28del (p.Lys10fs)	LOC130068202, RP2 (K10fs)	Deletion (frameshift variant)	Retinitis pigmentosa	GPathogenic
Select item 812401	NM_006269.2(RP1):c.2180_2181delinsAA (p.Cys727Ter)	RP1 (C727*)	Indel (nonsense +1 more)	not provided	GPathogenic
Select item 812400	NM_006269.2(RP1):c.2167G>T (p.Gly723Ter)	RP1 (G723*)	Single nucleotide variant (nonsense +1 more)	Retinal dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 812399	NM_006269.2(RP1):c.688G>T (p.Gly230Ter)	RP1 (G230*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa	GPathogenic
Select item 812398	NM_000326.5(RLBP1):c.602T>C (p.Ile201Thr)	RLBP1 (I201T)	Single nucleotide variant (missense variant)	Retinal dystrophy +4 more	GConflicting classifications of pathogenicity
Select item 812397	NM_000539.3(RHO):c.560G>A (p.Cys187Tyr)	RHO (C187Y)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 812396	NM_000539.3(RHO):c.548_638dup (p.Ile214fs)	RHO (I214fs)	Duplication (frameshift variant)	Retinitis pigmentosa	GPathogenic
Select item 812395	NM_000539.3(RHO):c.497C>T (p.Ala166Val)	RHO (A166V)	Single nucleotide variant (missense variant)	Retinitis pigmentosa	GLikely pathogenic
Select item 812394	NM_002905.5(RDH5):c.718dup (p.Ala240fs)	BLOC1S1-RDH5, CD63 +1 more (A240fs)	Duplication (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 812393	NM_002905.5(RDH5):c.547G>T (p.Glu183Ter)	RDH5, BLOC1S1-RDH5 (E183*)	Single nucleotide variant (non-coding transcript variant +1 more)	Pigmentary retinal dystrophy	GPathogenic
Select item 812392	NM_002905.5(RDH5):c.412del (p.Met138fs)	BLOC1S1-RDH5, RDH5 (M138fs)	Deletion (non-coding transcript variant +1 more)	Pigmentary retinal dystrophy	GPathogenic
Select item 812391	NM_002905.5(RDH5):c.71_74del (p.Leu24fs)	BLOC1S1-RDH5, RDH5 (L24fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 812390	NM_152443.3(RDH12):c.821T>C (p.Leu274Pro)	ZFYVE26, GPHN +1 more (L274P)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 812389	NM_152443.3(RDH12):c.759del (p.Phe254fs)	GPHN, RDH12 +1 more (F254fs)	Deletion (frameshift variant)	Leber congenital amaurosis 13 +1 more	GPathogenic/Likely pathogenic
Select item 812388	NM_002900.3(RBP3):c.3379C>T (p.Gln1127Ter)	RBP3 (Q1127*)	Single nucleotide variant (nonsense)	Cone-rod dystrophy	GPathogenic
Select item 812387	NM_000322.5(PRPH2):c.518A>C (p.Asp173Ala)	PRPH2 (D173A)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 7 +1 more	GPathogenic/Likely pathogenic
Select item 812386	NM_000322.5(PRPH2):c.594C>G (p.Ser198Arg)	PRPH2 (S198R)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +1 more	GPathogenic/Likely pathogenic
Select item 812385	NM_000322.5(PRPH2):c.794T>G (p.Met265Arg)	PRPH2 (M265R)	Single nucleotide variant (missense variant)	Patterned macular dystrophy 1 +1 more	GLikely pathogenic
Select item 812384	NM_000322.5(PRPH2):c.808CTC[1] (p.Leu271del)	PRPH2 (L271del)	Microsatellite (inframe_deletion)	Retinal dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 812383	NM_000322.5(PRPH2):c.927G>T (p.Glu309Asp)	PRPH2 (E309D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 812382	NM_006445.4(PRPF8):c.3391AAG[1] (p.Lys1132del)	PRPF8 (K1132del)	Microsatellite (inframe_deletion)	Retinitis pigmentosa	GPathogenic
Select item 812381	NM_012469.4(PRPF6):c.2822_2824del (p.Phe941del)	PRPF6 (F941del)	Deletion (inframe_deletion)	Retinitis pigmentosa	GPathogenic
Select item 812380	NM_015629.4(PRPF31):c.1108G>T (p.Glu370Ter)	PRPF31 (E370*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 812379	NM_015629.4(PRPF31):c.697+1G>A	PRPF31, PRPF31-AS1	Single nucleotide variant (splice donor variant)	Retinitis pigmentosa	GPathogenic
Select item 812378	NM_015629.4(PRPF31):c.689del (p.Lys230fs)	PRPF31, PRPF31-AS1 (K230fs)	Deletion (frameshift variant)	Retinitis pigmentosa	GPathogenic
Select item 812377	NC_000006.12:g.99593098A>C	LOC111365204, PRDM13	Single nucleotide variant	North Carolina macular dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 812376	NM_000929.3(PLA2G5):c.280dup (p.Val94fs)	PLA2G5 (V94fs)	Duplication (frameshift variant)	Late-onset retinal degeneration	GPathogenic
Select item 812375	NM_006214.4(PHYH):c.135-1G>C	PHYH	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic
Select item 812374	NM_006204.4(PDE6C):c.1595T>G (p.Ile532Arg)	PDE6C (I532R)	Single nucleotide variant (missense variant)	Achromatopsia	GLikely pathogenic
Select item 812373	NM_006204.4(PDE6C):c.490T>C (p.Phe164Leu)	PDE6C (F164L)	Single nucleotide variant (missense variant)	Cone dystrophy	GLikely pathogenic
Select item 812372	NM_000283.4(PDE6B):c.1921-9C>G	PDE6B	Single nucleotide variant (intron variant)	not provided	GPathogenic
Select item 812371	NM_000283.4(PDE6B):c.1417del (p.Leu473fs)	PDE6B-AS1, PDE6B (L88fs +2 more)	Deletion (frameshift variant)	Retinitis pigmentosa	GPathogenic
Select item 812370	NM_000283.4(PDE6B):c.428C>A (p.Ala143Asp)	PDE6B (A143D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 812369	NM_000440.3(PDE6A):c.409delinsCT (p.Asp137fs)	PDE6A (D137fs)	Indel (frameshift variant)	Retinitis pigmentosa	GPathogenic

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