Full data view for gene CEP290

This database is one of the "Eye disease" gene variant databases.b>NOTE: most of the data displayed derive from the CEP290 gene variant database and link directly to their original source.
Information The variants shown are described using the NM_025114.3 transcript reference sequence.

388 entries on 4 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Allele     

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/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. 41 c.?G>T - r.(?) p.(Glu1903*) Unknown g.?G>T - - - CEP290_000089 no Glu1903 in protein, Glu1902*?, copied from CEP290 database - - - Germline - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 1 Johan den Dunnen
+/. 41 c.?G>T - r.(?) p.(Glu1903*) Unknown g.?G>T - - - CEP290_000089 no Glu1903 in protein, Glu1902*? OMIM:var0013 - - Germline - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 1 Johan den Dunnen
-/. - c.-33G>T benign r.(=) p.(=) Unknown g.88535682C>A - CEP290:NM_025114.3:c.312G>T - CEP290_000277 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.-27-56A>C benign r.(=) p.(=) Unknown g.88535167T>G - CEP290:c.-27-56A>C - CEP290_000251 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.-20G>A benign r.(=) p.(=) Unknown g.88535104C>T - CEP290:c.-20G>A - CEP290_000250 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 2 c.1A>G - r.(?) p.(Met1?) Unknown g.88535084T>C g.88141307T>C - - CEP290_000010 copied from CEP290 database - - - Germline - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 1 Johan den Dunnen
+/. 2 c.2T>A - r.(?) p.0? Parent #1 g.88535083A>T g.88141306A>T - - CEP290_000003 copied from CEP290 database PubMed: Perrault 2007 - - Germline - - - 0 - DNA DHPLC - - LCA - - - - - France - - 0 - - 1 Johan den Dunnen
+/. 2 c.2T>A - r.(?) p.0? Parent #1 g.88535083A>T g.88141306A>T - - CEP290_000003 copied from CEP290 database PubMed: Perrault 2007 - - Germline - - - 0 - DNA DHPLC - - LCA - - - - - - - - 0 - - 1 Johan den Dunnen
+/. 2 c.21G>T - r.(?) p.(Trp7Cys) Parent #1 g.88535064C>A g.88141287C>A - - CEP290_000005 copied from CEP290 database PubMed: Valente 2006, OMIM:var0003 - rs62635288 Germline - - - 0 - DNA SEQ - - JBTS-1 - - - M - Pakistan - - 0 - - 1 Johan den Dunnen
+/. 2 c.21G>T - r.(?) p.(Trp7Cys) Parent #2 g.88535064C>A g.88141287C>A - - CEP290_000005 copied from CEP290 database PubMed: Valente 2006, OMIM:var0003 - rs62635288 Germline - - - 0 - DNA SEQ - - JBTS-1 - - - M - Pakistan - - 0 - - 1 Johan den Dunnen
+/. 2 c.21G>T - r.(?) p.(Trp7Cys) Parent #1 g.88535064C>A g.88141287C>A - - CEP290_000005 copied from CEP290 database PubMed: Valente 2006 - rs62635288 Germline - - - 0 - DNA SEQ - - JBTS-1 - - - - - - - - 0 - - 2 Johan den Dunnen
+/. 2 c.21G>T - r.(?) p.(Trp7Cys) Unknown g.88535064C>A g.88141287C>A - - CEP290_000011 - OMIM:var0003 - - Germline - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 1 Johan den Dunnen
-?/. - c.99C>T likely benign r.(=) p.(=) Unknown g.88534986G>A - CEP290:c.99C>T (=) - CEP290_000249 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 2i c.103-13_103-18del - r.(?) p.? Unknown g.88534823_88534828del - - - CEP290_000127 copied from CEP290 database - - - Germline - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 2 Johan den Dunnen
+/. 3 c.148C>T - r.(?) p.(His50Tyr) Both (homozygous) g.88534765G>A g.88140988G>A - - CEP290_000154 - - - - Germline yes - - 0 needs Curator approval DNA SEQ WBC - RD - - - F yes Pakistan Pakistani - 0 - - 1 James Hejtmancik
+?/. 3 c.148C>T ACMG 3 r.(?) p.(His50Tyr) Unknown g.88534765G>A g.88140988G>A - - CEP290_000154 - PubMed: de Castro-Miró 2016 - - Germline ? - - 0 - DNA SEQ-NG-I Whole blood - LCA - PubMed: de Castro-Miró 2016 - F ? Venezuela - - 0 - - 1 Marta de Castro-Miró
+/. 3 c.164_167del - r.(?) p.(Thr55Serfs*3) Unknown g.88534746_88534749del g.88140969_88140972del - - CEP290_000012 copied from CEP290 database - - - Germline - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 1 Johan den Dunnen
+/. 3i c.180+1G>T - r.spl p.? Unknown g.88534732C>A g.88140955C>A - - CEP290_000132 copied from CEP290 database - - - Germline - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 1 Johan den Dunnen
+?/+? 3i c.180+2T>A - r.spl? p.? Paternal (confirmed) g.88534731A>T g.88140954A>T - - CEP290_000131 1 Tunisian and 1 French MKS4 family (both com-het) PubMed: Baala 2007 - - SUMMARY record yes - - 0 - - - - - - - - - - - - - - - - - - -
+/. 3i c.180+2T>A - r.spl p.? Unknown g.88534731A>T g.88140954A>T - - CEP290_000131 copied from CEP290 database - - - Germline - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 1 Johan den Dunnen
+/. 3i c.180+2T>A - r.spl p.? Unknown g.88534731A>T g.88140954A>T - - CEP290_000131 - OMIM:var0009 - - Germline - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 1 Johan den Dunnen
-?/. - c.181-9_181-8insT likely benign r.(=) p.(=) Unknown g.88533349_88533350insA - CEP290:c.181-10_181-9insT - CEP290_000248 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.226G>A VUS r.(?) p.(Ala76Thr) Unknown g.88533296C>T - CEP290:NM_025114.3:c.226G>A (Ala76Thr) - CEP290_000276 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.232G>A VUS r.(?) p.(Glu78Lys) Unknown g.88533290C>T - CEP290:c.232G>A (E78K) - CEP290_000247 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.251-11T>A benign r.(=) p.(=) Unknown g.88532979A>T - CEP290:c.251-11T>A - CEP290_000246 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.251-11T>A benign r.(=) p.(=) Unknown g.88532979A>T - CEP290:c.251-11T>A - CEP290_000246 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.251-10A>T benign r.(=) p.(=) Unknown g.88532978T>A - CEP290:c.251-10A>T - CEP290_000245 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 5 c.265dup - r.(?) p.(Thr89Asnfs*2) Unknown g.88532954dup g.88139177dup - - CEP290_000013 copied from CEP290 database - - rs62642052 Germline - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 1 Johan den Dunnen
+/. 5 c.287del - r.(?) p.(Asn96Metfs*29) Unknown g.88532932del g.88139155del - - CEP290_000014 copied from CEP290 database - - - Germline - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 1 Johan den Dunnen
+/+ 5 c.289G>T - r.(289g>u) p.(Glu97*) Unknown g.88532930C>A g.88139153C>A p.Glu97X - CEP290_000142 1 European MKS4 family (com-het) PubMed: Tallila 2008 - - SUMMARY record yes - - 0 - - - - - - - - - - - - - - - - - - -
-/. 5i c.297+36A>G - r.? p.? Unknown g.88532886T>C g.88139109T>C - - CEP290_000140 copied from CEP290 database - - rs45468703 Germline - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 1 Johan den Dunnen
+/. 6 c.322C>T - r.(?) p.(Arg108*) Unknown g.88530539G>A g.88136762G>A - - CEP290_000018 copied from CEP290 database - - - Germline - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 1 Johan den Dunnen
?/. - c.341G>A VUS r.(?) p.(Arg114His) Unknown g.88530520C>T - CEP290:c.341G>A (R114H) - CEP290_000244 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.367C>T pathogenic r.(?) p.(Gln123*) Unknown g.88530494G>A - CEP290:c.367C>T (Q123*) - CEP290_000243 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 6 c.381_382delinsT - r.(381_382delinsu) p.(Lys127Asnfs*36) Unknown g.88530479_88530480delinsA g.88136702_88136703delinsA p.Lys127AsnfsX36 - CEP290_000017 1 MKS4 family of undetermined ethnicity (com-het) PubMed: Baala 2007 - - SUMMARY record yes - - 0 - - - - - - - - - - - - - - - - - - -
+/. 6 c.381_382delinsT - r.(?) p.(Lys127Asnfs*36) Unknown g.88530479_88530480delinsA g.88136702_88136703delinsA - - CEP290_000017 copied from CEP290 database - - - Germline - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 1 Johan den Dunnen
-/. - c.384T>C benign r.(=) p.(=) Unknown g.88530477A>G - CEP290:c.384T>C (=) - CEP290_000242 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 6 c.384_385del - r.(?) p.(Asp128Glufs*17) Unknown g.88530476_88530477del g.88136699_88136700del - - CEP290_000016 copied from CEP290 database - - - Germline - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 1 Johan den Dunnen
+/+ 6 c.384_387del - r.(384_387del) p.(Asp128Glufs*34) Unknown g.88530474_88530477del g.88136697_88136700del c.384_387delTAGA: p.Asp128GlufsX34 - CEP290_000019 2 Tunisian (1 hom and 1 com-het) and 1 French (com-het) MKS4 families PubMed: Baala 2007 - - SUMMARY record yes - - 0 - - - - - - - - - - - - - - - - - - -
+/. 6 c.384_387del - r.(?) p.(Asp128Glufs*34) Unknown g.88530474_88530477del g.88136697_88136700del - - CEP290_000019 - OMIM:var0008 - - Germline - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 1 Johan den Dunnen
+/. 6 c.384_387del - r.(?) p.(Asp128Glufs*34) Unknown g.88530474_88530477del g.88136697_88136700del - - CEP290_000019 copied from CEP290 database - - - Germline - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 3 Johan den Dunnen
+/. 6 c.437del - r.(?) p.(Glu146Glyfs*17) Unknown g.88530424del g.88136647del - - CEP290_000015 copied from CEP290 database - - - Germline - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 1 Johan den Dunnen
-/. - c.442-55del benign r.(=) p.(=) Unknown g.88525050del - CEP290:c.442-55delA - CEP290_000241 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.442-22dup benign r.(=) p.(=) Unknown g.88525017dup - CEP290:c.442-12_442-11insT - CEP290_000238 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.442-19T>A benign r.(=) p.(=) Unknown g.88525014A>T - CEP290:c.442-19T>A - CEP290_000240 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.442-19T>A benign r.(=) p.(=) Unknown g.88525014A>T - CEP290:NM_025114.3:c.442-19T>A (?) - CEP290_000240 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.442-11del benign r.(=) p.(=) Unknown g.88525006del - CEP290:c.442-11delT - CEP290_000239 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 7 c.451C>T - r.(?) p.(Arg151*) Parent #1 g.88524986G>A g.88131209G>A - - CEP290_000001 copied from CEP290 database PubMed: Littink Karin 2010 - - Germline - - - 0 - DNA SEQ - - LCA - - - M - Netherlands - - 0 - - 1 Johan den Dunnen
+/. 7 c.451C>T - r.(?) p.(Arg151*) Parent #1 g.88524986G>A g.88131209G>A - - CEP290_000001 copied from CEP290 database PubMed: Littink Karin 2010 - - Germline - - - 0 - DNA SEQ - - LCA - - - - - - - - 0 - - 1 Johan den Dunnen
+/. - c.451C>T pathogenic r.(?) p.(Arg151*) Unknown g.88524986G>A - CEP290:c.451C>T (R151*) - CEP290_000001 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.496-28A>G VUS r.(=) p.(=) Unknown g.88524370T>C - CEP290:c.496-28A>G - CEP290_000237 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.503G>A likely benign r.(?) p.(Arg168His) Unknown g.88524335C>T - CEP290:c.503G>A (R168H) - CEP290_000236 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.517-55G>A benign r.(=) p.(=) Unknown g.88524252C>T - CEP290:c.517-55G>A - CEP290_000235 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.523C>A VUS r.(?) p.(Gln175Lys) Unknown g.88524191G>T - CEP290:c.523C>A (Q175K) - CEP290_000234 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 9 c.566C>G - r.(?) p.(Ser189*) Unknown g.88524148G>C g.88130371G>C - - CEP290_000021 copied from CEP290 database - - - Germline - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 1 Johan den Dunnen
+/+ 9 c.613C>T - r.(613c>u) p.(Arg205*) Both (homozygous) g.88524101G>A g.88130324G>A p.Arg205X - CEP290_000020 1 Moroccan MKS4 family (hom) PubMed: Baala 2007 - rs137852835 SUMMARY record yes - - 0 - - - - - - - - - - - - - - - - - - -
+/. 9 c.613C>T - r.(?) p.(Arg205*) Unknown g.88524101G>A g.88130324G>A - - CEP290_000020 - OMIM:var0010 - - Germline - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 1 Johan den Dunnen
+/. 9 c.613C>T - r.(?) p.(Arg205*) Unknown g.88524101G>A g.88130324G>A - - CEP290_000020 copied from CEP290 database - - - Germline - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 1 Johan den Dunnen
+/. 10 c.679_680del - r.(?) p.(Glu227Serfs*2) Unknown g.88523643_88523644del g.88129866_88129867del - - CEP290_000023 copied from CEP290 database - - rs62640578 Germline - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 1 Johan den Dunnen
?/. - c.722A>G VUS r.(?) p.(Lys241Arg) Unknown g.88523601T>C - CEP290:c.722A>G (K241R) - CEP290_000233 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.739G>A likely benign r.(?) p.(Val247Ile) Unknown g.88523584C>T - CEP290:c.739G>A (V247I) - CEP290_000232 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.777A>G likely benign r.(=) p.(=) Unknown g.88523546T>C - CEP290:c.777A>G (=) - CEP290_000231 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. 10 c.829G>C - r.(?) p.(Glu277Gln) Unknown g.88523494C>G g.88129717C>G - - CEP290_000022 copied from CEP290 database - - rs45502896 Germline - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 1 Johan den Dunnen
-?/. - c.829G>C likely benign r.(?) p.(Glu277Gln) Unknown g.88523494C>G - CEP290:c.829G>C (E277Q) - CEP290_000022 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.829G>C likely benign r.(?) p.(Glu277Gln) Unknown g.88523494C>G - CEP290:c.829G>C (E277Q) - CEP290_000022 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.838C>T VUS r.(?) p.(His280Tyr) Unknown g.88523485G>A - CEP290:NM_025114.3:c.838C>T - CEP290_000230 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.853-124_853-123insTAA benign r.(=) p.(=) Unknown g.88522935_88522936insTTA - CEP290:c.853-125_853-124insTAA - CEP290_000229 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.853-10dup benign r.(=) p.(=) Unknown g.88522822dup - CEP290:NM_025114.3:c.853-10dup (?) - CEP290_000275 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.853G>A likely benign r.(?) p.(Val285Met) Unknown g.88522812C>T - CEP290:NM_025114.3:c.853G>A - CEP290_000228 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 11 c.930A>G - r.(?) p.(=) Unknown g.88522735T>C g.88128958T>C - - CEP290_000024 copied from CEP290 database - - - Germline - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 1 Johan den Dunnen
?/. - c.959A>G VUS r.(?) p.(Lys320Arg) Unknown g.88520199T>C - CEP290:NM_025114.3:c.959A>G (Lys320Arg) - CEP290_000274 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.963T>A likely benign r.(?) p.(Asp321Glu) Unknown g.88520195A>T - CEP290:NM_025114.3:c.963T>A - CEP290_000227 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 12i c.1066-1G>A - r.spl p.? Unknown g.88519147C>T g.88125370C>T - - CEP290_000114 copied from CEP290 database - - - Germline - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 2 Johan den Dunnen
./. - c.1079G>A - r.(?) p.(Arg360Gln) Maternal (confirmed) g.88519133C>T g.88125356C>T - - CEP290_000149 - PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - 0 - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - 0 Decipher - 1 Johan den Dunnen
?/. - c.1079G>A VUS r.(?) p.(Arg360Gln) Unknown g.88519133C>T - CEP290:NM_025114.3:c.1079G>A (Arg360Gln) - CEP290_000149 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1092T>G likely benign r.(?) p.(Ile364Met) Unknown g.88519120A>C - CEP290:NM_025114.3:c.1092T>G - CEP290_000226 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1105G>A VUS r.(?) p.(Glu369Lys) Unknown g.88519107C>T - CEP290:NM_025114.3:c.1105G>A - CEP290_000225 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 13i c.1189+1G>A - r.spl p.? Unknown g.88519022C>T g.88125245C>T - - CEP290_000115 copied from CEP290 database - - - Germline - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 1 Johan den Dunnen
+/+ 14 c.1219_1220del - r.(1219_1220delau) p.(Met407Glufs*14) Paternal (confirmed) g.88514913_88514914del g.88121136_88121137del c.1219_1220delAT: p.Met407GlufsX14 - CEP290_000026 1 Finnish and 1 French MKS4 family (both com-het), 2 other European MKS4 families (1 hom and 1 com-het) PubMed: Baala 2007, PubMed: Tallila 2008 - - SUMMARY record yes - - 0 - - - - - - - - - - - - - - - - - - -
+/. 14 c.1219_1220del - r.(?) p.(Met407Glufs*14) Unknown g.88514913_88514914del g.88121136_88121137del - - CEP290_000026 copied from CEP290 database - - - Germline - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 4 Johan den Dunnen
+/. - c.1219_1220del pathogenic r.(?) p.(Met407Glufs*14) Unknown g.88514913_88514914del - CEP290:c.1219_1220delAT (M407Efs*14) - CEP290_000026 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 14 c.1260_1264del - r.(?) p.(Lys421Glyfs*2) Unknown g.88514869_88514873del g.88121092_88121096del - - CEP290_000025 - OMIM:var0011 - - Germline - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 1 Johan den Dunnen
+/. 14 c.1260_1264del - r.(?) p.(Lys421Glyfs*2) Unknown g.88514869_88514873del g.88121092_88121096del - - CEP290_000025 copied from CEP290 database - - - Germline - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 2 Johan den Dunnen
?/. - c.1298A>G VUS r.(?) p.(Asp433Gly) Unknown g.88514835T>C - CEP290:c.1298A>G (D433G) - CEP290_000224 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1298A>G VUS r.(?) p.(Asp433Gly) Unknown g.88514835T>C - CEP290:NM_025114.3:c.1298A>G (Asp433Gly) - CEP290_000224 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 14 c.1322T>A ACMG 5 r.(?) p.(Leu441*) Unknown g.88514811A>T g.88121034A>T - - CEP290_000155 - PubMed: de Castro-Miró 2016 - - Germline - - - 0 - DNA SEQ-NG-I Whole blood - LCA - PubMed: de Castro-Miró 2016 - F ? Venezuela - - 0 - - 1 Marta de Castro-Miró
-?/. - c.1360-4T>G likely benign r.spl? p.? Unknown g.88514057A>C - CEP290:c.1360-4T>G - CEP290_000223 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 15 c.1361del - r.(?) p.(Gly454Glufs*5) Unknown g.88514052del g.88120275del - - CEP290_000028 copied from CEP290 database - - - Germline - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 1 Johan den Dunnen
-/. - c.1387G>A benign r.(?) p.(Val463Ile) Unknown g.88514026C>T - CEP290:c.1387G>A (V463I) - CEP290_000222 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1403G>A VUS r.(?) p.(Cys468Tyr) Unknown g.88514010C>T - CEP290:c.1403G>A (C468Y) - CEP290_000221 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 15 c.1419_1423del - r.(?) p.(Ile474Argfs*5) Unknown g.88513990_88513994del g.88120213_88120217del - - CEP290_000027 copied from CEP290 database - - - Germline - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 1 Johan den Dunnen
+/. - c.1419_1423del pathogenic r.(?) p.(Ile474Argfs*5) Unknown g.88513990_88513994del - CEP290:c.1419_1423delAATAA (I474Rfs*5) - CEP290_000027 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1436T>C VUS r.(?) p.(Ile479Thr) Unknown g.88513977A>G - CEP290:NM_025114.3:c.1436T>C - CEP290_000220 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 15 c.1451delA - r.(1451del) p.(Tyr484Leufs*27) Unknown g.88513962delT g.88120185delT p.K484fsX8 - CEP290_000143 1 British MKS4 family (het) PubMed: Otto 2011 - - SUMMARY record yes 295/18699 CON - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.1501G>T pathogenic r.(?) p.(Glu501*) Unknown g.88513912C>A - CEP290:c.1501G>T (E501*) - CEP290_000219 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.1512_1515del pathogenic r.(?) p.(Arg504Serfs*10) Unknown g.88513898_88513901del - CEP290:NM_025114.3:c.1512_1515del (Arg504fs) - CEP290_000273 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1522+6C>T benign r.(=) p.(=) Unknown g.88513885G>A - CEP290:c.1522+6C>T - CEP290_000218 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1522+6C>T benign r.(=) p.(=) Unknown g.88513885G>A - CEP290:c.1522+6C>T - CEP290_000218 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1549T>C likely benign r.(=) p.(=) Unknown g.88512494A>G - CEP290:c.1549T>C (L517=) - CEP290_000217 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 16 c.1550del - r.(?) p.(Leu517*) Unknown g.88512493del g.88118716del - - CEP290_000029 copied from CEP290 database - - rs62640579 Germline - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 1 Johan den Dunnen
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