Full data view for gene C12orf29

NOTE: gene name changed from C12orf29 to RLIG1
Information The variants shown are described using the NM_001009894.2 transcript reference sequence.

414 entries on 5 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. - c.-1440554_*384537del r.0? p.0? Maternal (confirmed) - pathogenic g.86988872_88826736del g.86595096_88432960del CEP290 (46,XX.arr12q21.33(86,988,872-88,826,736) 1 hg19) - CEP290_000518 12q21 deletion PubMed: Molin 2013 - - Germline yes - - - - DNA SEQ, FISH, arrayCGH blood - retinal disease 1 PubMed: Molin 2013 - F - - - - - - - 1 LOVD
?/. - c.923dup r.(?) p.(Leu308PhefsTer5) Unknown - VUS g.88442144dup g.88048367dup C12orf29(NM_001009894.2):c.917_918insT (p.(Leu308PhefsTer5)) - C12orf29_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.970G>C r.(?) p.(Asp324His) Unknown - likely benign g.88442191G>C - C12orf29(NM_001009894.2):c.970G>C (p.(Asp324His)) - CEP290_000620 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*752T>C r.(=) p.(=) Unknown - likely benign g.88442951T>C g.88049174T>C CEP290(NM_025114.4):c.*10A>G - CEP290_000298 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*809_*810del r.(=) p.(=) Unknown - VUS g.88443008_88443009del g.88049231_88049232del CEP290(NM_025114.3):c.7394_7395del (p.(Glu2465ValfsTer2)), CEP290(NM_025114.4):c.7394_7395delAG (p.E2465Vfs*2) - CEP290_000299 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*809_*810del r.(=) p.(=) Unknown - VUS g.88443008_88443009del g.88049231_88049232del CEP290 c.7394_7395delAG, p.E2465VFS* - CEP290_000299 heterozygous PubMed: Devi 2020 - - Unknown ? - - - - DNA SEQ-NG blood exome sequencing JBTS 8 PubMed: Devi 2020 Family 8 ? - India - - - - - 1 LOVD
-?/. - c.*809_*810del r.(=) p.(=) Unknown - likely benign g.88443008_88443009del - CEP290(NM_025114.3):c.7394_7395del (p.(Glu2465ValfsTer2)), CEP290(NM_025114.4):c.7394_7395delAG (p.E2465Vfs*2) - CEP290_000299 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*816A>G r.(=) p.(=) Unknown - likely benign g.88443015A>G - CEP290(NM_025114.4):c.7386T>C (p.A2462=) - CEP290_000599 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*837T>C r.(=) p.(=) Unknown - likely benign g.88443036T>C - CEP290(NM_025114.4):c.7365A>G (p.E2455=) - CEP290_000600 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*854C>A r.(=) p.(=) Unknown - VUS g.88443053C>A g.88049276C>A C12orf29(NM_001009894.3):c.*854C>A, CEP290(NM_025114.4):c.7348G>T (p.E2450*) - CEP290_000300 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.*858_*861dup r.(=) p.(=) Unknown ACMG pathogenic g.88443057_88443060dup g.88049280_88049283dup CEP290 c.7341_7344dupACTT, p.(Ser2449Thrfs*8) - CEP290_000549 heterozygous PubMed: Dineiro 2020 - - Germline ? - - - - DNA SEQ-NG-I, SEQ blood, saliva targeted sequencing with 1 of 4 panels of OFTALMOgenics probes retinal disease OFTALMO.087 PubMed: Dineiro 2020 - ? - Spain - - - - - 1 LOVD
?/. - c.*862T>G r.(=) p.(=) Unknown - VUS g.88443061T>G - CEP290(NM_025114.4):c.7340A>C (p.K2447T) - CEP290_000616 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.*867dup r.(?) p.(=) Unknown - pathogenic g.88443066dup g.88049289dup - - CEP290_000111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.*867dup r.(=) p.(=) Parent #1 - likely pathogenic g.88443066dup g.88049289dup CEP290, variant 1: c.2991+1655A>G/p.?, variant 2: c.7341dup/p.L2448Tfs*8 - CEP290_000111 solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET6 targeted sequencing panel - see paper retinal disease 325 PubMed: Weisschuh 2020 Filing key number: 106, Leber congenital amaurosis, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. - c.*867dup r.(=) p.(=) Unknown - likely pathogenic g.88443066dup g.88049289dup 7341-7342insA; L2448fsX2455 - CEP290_000111 error in annotation, this change should be annotated p.(Leu2448Thrfster8); heterozygous PubMed: Sayer 2006 - - Unknown ? - - - - DNA SEQ, arraySNP blood - retinal disease A197 (II-1) PubMed: Sayer 2006 Family A197, patient II-1 - no Denmark - - - - - 1 LOVD
+/. - c.*867dup r.(=) p.(=) Unknown - pathogenic g.88443066dup g.88049289dup c.7341dupA p.Leu2448ThrfsX7 - CEP290_000111 all frameshifts' annotations in the paper off by 1 nucleotide PubMed: Den Hollander 2006 - - Germline yes - - - - DNA SEQ blood - retinal disease 14964 PubMed: Den Hollander 2006 - - - Germany - - - - - 1 LOVD
+?/. - c.*867dup r.(=) p.(=) Unknown - likely pathogenic g.88443066dup g.88049289dup c.2991+1655A>G/c.7341dupA, p.C998*/p.L2448Tfs*8 - CEP290_000111 heterozygous PubMed: Feldhaus 2020 - - Unknown ? - - - - DNA SEQ-NG, SEQ blood 11 patients were screened using a diagnostic targeted next-generation sequencing panel for IRDs, 1 using Asper LCA chip technology, 11 - Sanger sequenced CEP290 and/or specific sequencing for c.2991+1655A>, G, and 1 patient by targeted IRD panel analysis retinal disease CEP290_14 PubMed: Feldhaus 2020 - M - - - - - - - 1 LOVD
+?/. - c.*867dup r.(=) p.(=) Parent #2 - likely pathogenic g.88443066dup g.88049289dup CEP290 c.7341_7342insA, p.L2448fs - CEP290_000111 heterozygous PubMed: Cideciyan 2011 - - Germline yes - - - - DNA ? - - retinal disease P12 PubMed: Cideciyan 2011 - F - - - - - - - 1 LOVD
+/. - c.*869_*870insTTCTC r.(=) p.(=) Unknown ACMG pathogenic g.88443068_88443069insTTCTC g.88049291_88049292insTTCTC CEP290 c.1627G>T(;)7333_7334insAGAAG, V1: c.7333_7334insAGAAG, (p.Val2445GlufsTer3) - CEP290_000575 alleles in cis or trans; heterozygous PubMed: Chen 2021 - - Unknown ? - - - - DNA SEQ-NG blood 212 inherited retinal disease-related genes retinal disease F263 PubMed: Chen 2021 - ? - Taiwan - - - - - 1 LOVD
+/. - c.*869_*870insTTCTC r.(=) p.(=) Unknown - pathogenic g.88443068_88443069insTTCTC g.88049291_88049292insTTCTC CEP290 c.1627G>T(;)7333_7334insAGAAG; p.(Val2445GlufsTer3) - CEP290_000575 heterozygous PubMed: Chen 2021 - - Germline/De novo (untested) ? Taiwan Biobank: 0; GnomAD_exome_East: 0; GnomAD_All: 0 - - - DNA SEQ-NG - targeted 212 IRD-related genes retinal disease F263 PubMed: Chen 2021 - - - Taiwan - - - - - 1 LOVD
+/. - c.*875_*879del r.(=) p.(=) Maternal (confirmed) - pathogenic g.88443074_88443078del g.88049297_88049301del CEP290 c.7323_7327delAGAAG, p.Leu2441LeufsX13 - CEP290_000433 error in annotation, this protein change should be annotated p.(Glu2443Glyfs*11) and not p.(Leu2441Leufs*13) PubMed: Wang 2015 - - Germline yes - - - - DNA SEQ-NG blood targeted next generation sequenicng of 18 genes retinal disease 1 PubMed: Wang 2015 proband M - China - - - - - 1 LOVD
+/. - c.*875_*879dup r.(=) p.(=) Parent #2 ACMG pathogenic g.88443074_88443078dup g.88049297_88049301dup CEP290 NM_025114: g.92925_92926insAGAAG, c.7332_7333insAGAAG, p.V2445Rfs3 - CEP290_000529 - PubMed: Xu 2020 - - Germline yes - - - - DNA SEQ-NG - targeted next-generation sequencing retinal disease 19748 PubMed: Xu 2020 - ? no China - - - - - 1 LOVD
+?/. - c.*878C>A r.(=) p.(=) Unknown - likely pathogenic g.88443077C>A g.88049300C>A - - CEP290_000252 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*881A>C r.(=) p.(=) Unknown - VUS g.88443080A>C g.88049303A>C CEP290(NM_025114.3):c.7321T>G (p.L2441V) - CEP290_000159 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*881A>T r.(=) p.(=) Unknown - VUS g.88443080A>T - CEP290(NM_025114.4):c.7321T>A (p.L2441I) - CEP290_000601 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.*882_*885dup r.(=) p.(=) Parent #2 - likely pathogenic g.88443081_88443084dup g.88049304_88049307dup 7321dupCTCT, L2440fsX2456 - CEP290_000112 error in annotation, this change should be annotated as c.7318_7321dupCTCT and not 7321dupCTCT, protein change L2441SfsX16 and not L2440fsX2456; compound heterozygous PubMed: Brancati 2007 - - Germline yes - - - - DNA SEQ blood - retinal disease MTI111a PubMed: Brancati 2007 - M no Laos - - - - - 1 LOVD
+?/. - c.*882_*885dup r.(=) p.(=) Parent #2 - likely pathogenic g.88443081_88443084dup g.88049304_88049307dup 7321dupCTCT, L2440fsX2456 - CEP290_000112 error in annotation, this change should be annotated as c.7318_7321dupCTCT and not 7321dupCTCT, protein change L2441SfsX16 and not L2440fsX2456; compound heterozygous PubMed: Brancati 2007 - - Germline yes - - - - DNA SEQ blood - retinal disease MTI111b PubMed: Brancati 2007 - F no Laos - - - - - 1 LOVD
?/. - c.*895_*897del r.(=) p.(=) Unknown - VUS g.88443094_88443096del - CEP290(NM_025114.4):c.7311_7313del (p.(Lys2437del)) - CEP290_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*895_*897dup r.(=) p.(=) Unknown - VUS g.88443094_88443096dup g.88049317_88049319dup CEP290(NM_025114.3):c.7313_7314insGAA (p.(Lys2437dup)) - CEP290_000160 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*926C>T r.(=) p.(=) Unknown - likely benign g.88443125C>T g.88049348C>T CEP290(NM_025114.3):c.7276G>A (p.(Asp2426Asn)), CEP290(NM_025114.4):c.7276G>A (p.D2426N) - CEP290_000161 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*926C>T r.(=) p.(=) Unknown - VUS g.88443125C>T - CEP290(NM_025114.3):c.7276G>A (p.(Asp2426Asn)), CEP290(NM_025114.4):c.7276G>A (p.D2426N) - CEP290_000161 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*927T>G r.(=) p.(=) Unknown - VUS g.88443126T>G - CEP290(NM_025114.4):c.7275A>C (p.(Glu2425Asp)) - CEP290_000635 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*934T>C r.(=) p.(=) Unknown - VUS g.88443133T>C - CEP290(NM_025114.3):c.7268A>G (p.(Glu2423Gly)) - CEP290_000631 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*988T>G r.(=) p.(=) Unknown - VUS g.88443187T>G g.88049410T>G CEP290(NM_025114.4):c.7214A>C (p.E2405A) - CEP290_000302 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*1955C>A r.(=) p.(=) Unknown - benign g.88444154C>A g.88050377C>A CEP290(NM_025114.3):c.7186G>T (p.D2396Y, p.(Asp2396Tyr)), CEP290(NM_025114.4):c.7186G>T (p.D2396Y) - CEP290_000162 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*1955C>A r.(=) p.(=) Unknown - likely benign g.88444154C>A g.88050377C>A CEP290(NM_025114.3):c.7186G>T (p.D2396Y, p.(Asp2396Tyr)), CEP290(NM_025114.4):c.7186G>T (p.D2396Y) - CEP290_000162 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*1955C>A r.(=) p.(=) Unknown - likely benign g.88444154C>A - CEP290(NM_025114.3):c.7186G>T (p.D2396Y, p.(Asp2396Tyr)), CEP290(NM_025114.4):c.7186G>T (p.D2396Y) - CEP290_000162 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*1955C>A r.(=) p.(=) Unknown - likely benign g.88444154C>A - CEP290(NM_025114.3):c.7186G>T (p.D2396Y, p.(Asp2396Tyr)), CEP290(NM_025114.4):c.7186G>T (p.D2396Y) - CEP290_000162 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*5172del r.(?) p.(=) Unknown - benign g.88447371del g.88053594del CEP290(NM_025114.4):c.7129+73delT - CEP290_000303 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*5233G>A r.(=) p.(=) Unknown - VUS g.88447432G>A g.88053655G>A CEP290(NM_025114.3):c.7126C>T (p.(Pro2376Ser)) - CEP290_000163 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*5289T>C r.(=) p.(=) Unknown - likely benign g.88447488T>C g.88053711T>C CEP290(NM_025114.3):c.7070A>G (p.E2357G), CEP290(NM_025114.4):c.7070A>G (p.(Glu2357Gly)) - CEP290_000304 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*5289T>C r.(=) p.(=) Unknown - likely benign g.88447488T>C - CEP290(NM_025114.3):c.7070A>G (p.E2357G), CEP290(NM_025114.4):c.7070A>G (p.(Glu2357Gly)) - CEP290_000304 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.*5311G>A r.(=) p.(=) Unknown - pathogenic g.88447510G>A g.88053733G>A - - CEP290_000253 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*5877del r.(?) p.(=) Unknown - benign g.88448076del g.88054299del CEP290(NM_025114.4):c.7034+50delA - CEP290_000164 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*5937G>A r.(=) p.(=) Unknown - VUS g.88448136G>A - CEP290(NM_025114.3):c.7015C>T (p.(Arg2339Trp)) - CEP290_000602 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*5948T>C r.(=) p.(=) Unknown - likely benign g.88448147T>C g.88054370T>C CEP290(NM_025114.3):c.7004A>G (p.(Gln2335Arg)) - CEP290_000305 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*7090T>C r.(=) p.(=) Unknown - benign g.88449289T>C g.88055512T>C CEP290(NM_025114.4):c.6960+64A>G - CEP290_000165 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*7144C>T r.(=) p.(=) Unknown - benign g.88449343C>T g.88055566C>T CEP290(NM_025114.4):c.6960+10G>A - CEP290_000166 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*7154del r.(?) p.(=) Unknown - likely benign g.88449353del - CEP290(NM_025114.3):c.6960+1del (p.?) - CEP290_000593 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.*7218del r.(?) p.(=) Unknown - likely pathogenic g.88449417del g.88055640del CEP290(NM_025114.4):c.6897delT (p.V2300*) - CEP290_000167 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.*7252del r.(?) p.(=) Unknown - pathogenic g.88449451del g.88055674del CEP290(NM_025114.4):c.6869delA (p.N2290Ifs*11) - CEP290_000109 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*7252dup r.(?) p.(=) Unknown - VUS g.88449451dup g.88055674dup CEP290(NM_025114.3):c.6869_6870insA (p.(Asn2290LysfsTer6)) - CEP290_000168 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*10438A>G r.(=) p.(=) Unknown - likely benign g.88452637A>G g.88058860A>G CEP290(NM_025114.3):c.6806T>C (p.I2269T) - CEP290_000306 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*10508T>C r.(=) p.(=) Unknown - VUS g.88452707T>C g.88058930T>C CEP290(NM_025114.4):c.6736A>G (p.K2246E) - CEP290_000169 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*10566T>C r.(=) p.(=) Unknown - benign g.88452765T>C g.88058988T>C CEP290(NM_025114.4):c.6678A>G (p.A2226=) - CEP290_000170 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*11492C>T r.(=) p.(=) Unknown - benign g.88453691C>T g.88059914C>T CEP290(NM_025114.4):c.6629G>A (p.R2210H) - CEP290_000171 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*11493G>A r.(=) p.(=) Unknown - VUS g.88453692G>A g.88059915G>A CEP290(NM_025114.3):c.6628C>T (p.R2210C, p.(Arg2210Cys)), CEP290(NM_025114.4):c.6628C>T (p.R2210C) - CEP290_000254 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.*11493G>A r.(=) p.(=) Unknown - likely pathogenic g.88453692G>A g.88059915G>A CEP290(NM_025114.3):c.6628C>T (p.R2210C, p.(Arg2210Cys)), CEP290(NM_025114.4):c.6628C>T (p.R2210C) - CEP290_000254 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*11493G>A r.(=) p.(=) Unknown - VUS g.88453692G>A g.88059915G>A CEP290(NM_025114.3):c.6628C>T (p.R2210C, p.(Arg2210Cys)), CEP290(NM_025114.4):c.6628C>T (p.R2210C) - CEP290_000254 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*11493G>A r.(=) p.(=) Unknown - VUS g.88453692G>A g.88059915G>A CEP290(NM_025114.3):c.6628C>T (p.R2210C, p.(Arg2210Cys)), CEP290(NM_025114.4):c.6628C>T (p.R2210C) - CEP290_000254 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*11493G>A r.(=) p.(=) Unknown - VUS g.88453692G>A g.88059915G>A CEP290(NM_025114.3):c.6628C>T (p.R2210C, p.(Arg2210Cys)), CEP290(NM_025114.4):c.6628C>T (p.R2210C) - CEP290_000254 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*11551C>T r.(=) p.(=) Unknown - VUS g.88453750C>T g.88059973C>T CEP290(NM_025114.3):c.6570G>A (p.M2190I), CEP290(NM_025114.4):c.6570G>A (p.(Met2190Ile)) - CEP290_000172 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*11551C>T r.(=) p.(=) Unknown - likely benign g.88453750C>T - CEP290(NM_025114.3):c.6570G>A (p.M2190I), CEP290(NM_025114.4):c.6570G>A (p.(Met2190Ile)) - CEP290_000172 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*11563A>C r.(=) p.(=) Unknown - likely benign g.88453762A>C g.88059985A>C CEP290(NM_025114.3):c.6558T>G (p.H2186Q) - CEP290_000307 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*11574G>A r.(=) p.(=) Unknown - VUS g.88453773G>A g.88059996G>A - - CEP290_000255 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*12403dup r.(?) p.(=) Unknown - benign g.88454602dup g.88060825dup CEP290(NM_025114.3):c.6522+12dupT, CEP290(NM_025114.4):c.6522+4delAinsAT - CEP290_000174 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*12403dup r.(?) p.(=) Unknown - benign g.88454602dup g.88060825dup CEP290(NM_025114.3):c.6522+12dupT, CEP290(NM_025114.4):c.6522+4delAinsAT - CEP290_000137 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*12403dup r.(?) p.(=) Unknown - benign g.88454602dup g.88060825dup CEP290(NM_025114.3):c.6522+12dupT, CEP290(NM_025114.4):c.6522+4delAinsAT - CEP290_000174 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*12478A>G r.(=) p.(=) Unknown - likely benign g.88454677A>G - CEP290(NM_025114.4):c.6452T>C (p.L2151S) - CEP290_000628 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*12529A>G r.(=) p.(=) Unknown - likely benign g.88454728A>G g.88060951A>G CEP290(NM_025114.3):c.6401T>C (p.(Ile2134Thr)), CEP290(NM_025114.4):c.6401T>C (p.I2134T) - CEP290_000175 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*12529A>G r.(=) p.(=) Unknown - likely benign g.88454728A>G g.88060951A>G CEP290(NM_025114.3):c.6401T>C (p.(Ile2134Thr)), CEP290(NM_025114.4):c.6401T>C (p.I2134T) - CEP290_000175 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*12529A>G r.(=) p.(=) Unknown - likely benign g.88454728A>G g.88060951A>G CEP290(NM_025114.3):c.6401T>C (p.(Ile2134Thr)), CEP290(NM_025114.4):c.6401T>C (p.I2134T) - CEP290_000175 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*12532G>T r.(=) p.(=) Unknown - VUS g.88454731G>T g.88060954G>T - - CEP290_000256 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.*12573_*12582del r.(=) p.(=) Unknown - pathogenic g.88454772_88454781del g.88060995_88061004del - - CEP290_000257 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*14250T>A r.(=) p.(=) Unknown - benign g.88456449T>A g.88062672T>A - - CEP290_000258 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*14371G>A r.(=) p.(=) Unknown - benign g.88456570G>A g.88062793G>A CEP290(NM_025114.4):c.6271-15C>T - CEP290_000176 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*15585C>T r.(=) p.(=) Unknown - VUS g.88457784C>T g.88064007C>T CEP290(NM_025114.3):c.6244G>A (p.A2082T) - CEP290_000379 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*15594G>T r.(=) p.(=) Unknown - likely benign g.88457793G>T g.88064016G>T CEP290(NM_025114.3):c.6235C>A (p.L2079I, p.(Leu2079Ile)) - CEP290_000308 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*15594G>T r.(=) p.(=) Unknown - likely benign g.88457793G>T - CEP290(NM_025114.3):c.6235C>A (p.L2079I, p.(Leu2079Ile)) - CEP290_000308 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*15667A>G r.(=) p.(=) Unknown - benign g.88457866A>G g.88064089A>G CEP290(NM_025114.4):c.6162T>C (p.H2054=) - CEP290_000309 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*15687C>G r.(=) p.(=) Unknown - VUS g.88457886C>G g.88064109C>G CEP290(NM_025114.4):c.6142G>C (p.G2048R) - CEP290_000310 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*15712A>C r.(=) p.(=) Unknown - benign g.88457911A>C g.88064134A>C CEP290(NM_025114.4):c.6136-19T>G - CEP290_000311 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*15712A>C r.(=) p.(=) Unknown - likely benign g.88457911A>C - CEP290(NM_025114.4):c.6136-19T>G - CEP290_000311 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*20101G>A r.(=) p.(=) Unknown - VUS g.88462300G>A - CEP290(NM_025114.3):c.6134C>T (p.(Ser2045Leu)), CEP290(NM_025114.4):c.6134C>T (p.S2045L) - CEP290_000177 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*20101G>A r.(=) p.(=) Unknown - likely benign g.88462300G>A - CEP290(NM_025114.3):c.6134C>T (p.(Ser2045Leu)), CEP290(NM_025114.4):c.6134C>T (p.S2045L) - CEP290_000177 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*20119T>C r.(=) p.(=) Unknown - VUS g.88462318T>C g.88068541T>C CEP290(NM_025114.3):c.6116A>G (p.D2039G, p.(Asp2039Gly)), CEP290(NM_025114.4):c.6116A>G (p.D2039G) - CEP290_000178 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*20119T>C r.(=) p.(=) Unknown - VUS g.88462318T>C g.88068541T>C CEP290(NM_025114.3):c.6116A>G (p.D2039G, p.(Asp2039Gly)), CEP290(NM_025114.4):c.6116A>G (p.D2039G) - CEP290_000178 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*20119T>C r.(=) p.(=) Unknown - likely benign g.88462318T>C - CEP290(NM_025114.3):c.6116A>G (p.D2039G, p.(Asp2039Gly)), CEP290(NM_025114.4):c.6116A>G (p.D2039G) - CEP290_000178 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*20137T>C r.(=) p.(=) Unknown - VUS g.88462336T>C g.88068559T>C CEP290(NM_025114.3):c.6098A>G (p.E2033G, p.(Glu2033Gly)) - CEP290_000312 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*20137T>C r.(=) p.(=) Unknown - VUS g.88462336T>C - CEP290(NM_025114.3):c.6098A>G (p.E2033G, p.(Glu2033Gly)) - CEP290_000312 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*20201C>A r.(=) p.(=) Unknown - VUS g.88462400C>A g.88068623C>A - - CEP290_000314 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*20203C>T r.(=) p.(=) Unknown - VUS g.88462402C>T g.88068625C>T - - CEP290_000315 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*20210G>A r.(=) p.(=) Unknown - VUS g.88462409G>A - CEP290(NM_025114.3):c.6025C>T (p.(Leu2009Phe)) - CEP290_000603 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*22885T>C r.(=) p.(=) Unknown - VUS g.88465084T>C g.88071307T>C CEP290(NM_025114.3):c.5998A>G (p.(Ile2000Val)) - CEP290_000180 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*22912T>C r.(=) p.(=) Unknown - VUS g.88465111T>C - CEP290(NM_025114.3):c.5971A>G (p.(Lys1991Glu)) - CEP290_000594 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*22915T>G r.(=) p.(=) Unknown - likely benign g.88465114T>G - CEP290(NM_025114.3):c.5968A>C (p.(Lys1990Gln)) - CEP290_000400 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*22957C>G r.(=) p.(=) Unknown - VUS g.88465156C>G - CEP290(NM_025114.3):c.5926G>C (p.G1976R) - CEP290_000595 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*22978T>C r.(=) p.(=) Unknown - likely benign g.88465177T>C g.88071400T>C CEP290(NM_025114.3):c.5905A>G (p.(Met1969Val)) - CEP290_000316 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*23043T>A r.(=) p.(=) Unknown - benign g.88465242T>A g.88071465T>A CEP290(NM_025114.4):c.5856-16A>T - CEP290_000181 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*23043T>C r.(=) p.(=) Unknown - benign g.88465242T>C g.88071465T>C CEP290(NM_025114.4):c.5856-16A>G - CEP290_000182 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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