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.

241 entries on 3 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

Class.     

RNA change     

Protein     

Allele     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Germline/De novo/Somatic     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

Individual_ID     

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
+/. 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
+/. 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
+/. 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
+/+ 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
+/. 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.442-19T>A - 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 - 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 - - - - - - - - - - - - - - - - - - -
+/. 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
+/. 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
-/. 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 - 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 - 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 - - - - - - - - - - - - - - - - - - -
?/. 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
+/. 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
+/. 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
+/. 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 - 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 - 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
+/. 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
+/. 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
+/+ 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.1522+6C>T - 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 - 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 - - - - - - - - - - - - - - - - - - -
+/. 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
./. - c.1558T>C - r.(?) p.(Phe520Leu) Unknown g.88512485A>G - CEP290:c.1558T>C (F520L) - CEP290_000216 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
./. - c.1558T>C - r.(?) p.(Phe520Leu) Unknown g.88512485A>G - CEP290:NM_025114.3:c.1558T>C - CEP290_000216 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 16 c.1593C>A - r.(?) p.(Tyr531*) Parent #2 g.88512450G>T g.88118673G>T - - CEP290_000004 copied from CEP290 database PubMed: Perrault 2007 - - Germline - - - 0 - DNA DHPLC - - LCA - - - - - France - - 0 - - 1 Johan den Dunnen
+/. 16 c.1593C>A - r.(?) p.(Tyr531*) Parent #1 g.88512450G>T g.88118673G>T - - CEP290_000004 copied from CEP290 database PubMed: Perrault 2007 - - Germline - - - 0 - DNA DHPLC - - LCA - - - - - - - - 0 - - 1 Johan den Dunnen
./. - c.1624-5T>C - r.spl? p.? Unknown g.88512352A>G - CEP290:c.1624-5T>C - CEP290_000215 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
./. - c.1624-5T>C - r.spl? p.? Unknown g.88512352A>G - CEP290:NM_025114.3:c.1624-5T>C - CEP290_000215 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 17 c.1645C>T - r.(?) p.(Arg549*) Unknown g.88512326G>A g.88118549G>A - - CEP290_000033 copied from CEP290 database - - - Germline - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 1 Johan den Dunnen
+?/. 17 c.1657del - r.(?) p.(Ile556Phefs*17) Unknown g.88512314del g.88118537del - - CEP290_000144 - - - - Germline - - - 0 - DNA NGS - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
+/. 17 c.1666del - r.(?) p.(Ile556Phefs*17) Unknown g.88512305del g.88118528del - - CEP290_000030 copied from CEP290 database - - - Germline - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 1 Johan den Dunnen
./. - c.1666del - r.(?) p.(Ile556Phefs*17) Unknown g.88512305del - CEP290:c.1666delA (I556Ffs*17) - CEP290_000030 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
./. - c.1666del - r.(?) p.(Ile556Phefs*17) Unknown g.88512305del - CEP290:NM_025114.3:c.1666del (Ile556fs) - CEP290_000030 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 17 c.1682_1683del - r.(?) p.(Gln561Argfs*14) Unknown g.88512288_88512289del g.88118511_88118512del - - CEP290_000031 copied from CEP290 database - - - Germline - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 1 Johan den Dunnen
+/. 17 c.1709C>G - r.(?) p.(Ser570*) Unknown g.88512262G>C g.88118485G>C - - CEP290_000032 copied from CEP290 database - - - Germline - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 1 Johan den Dunnen
+/. 17i c.1711+5A>G - r.spl? p.? Unknown g.88512255T>C g.88118478T>C - - CEP290_000116 copied from CEP290 database - - - Germline - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 1 Johan den Dunnen
./. - c.1729C>T - r.(=) p.(=) Unknown g.88510905G>A - CEP290:c.1729C>T (=) - CEP290_000210 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
./. - c.1729C>T - r.(=) p.(=) Unknown g.88510905G>A - CEP290:c.1729C>T (=) - CEP290_000210 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 18 c.1824G>A - r.(?) p.(=) Unknown g.88510810C>T g.88117033C>T - - CEP290_000034 copied from CEP290 database - - - Germline - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 1 Johan den Dunnen
-/. 18i c.1825-14_1825-13del - r.(spl?) p.(?) Parent #1 g.88508972_88508973del g.88115195_88115196del - - CEP290_000006 predicted benign PubMed: Neveling 2012 - - Germline - - - 0 - DNA SEQ, SEQ-NG-S - - RP - - - F - - - - 0 - - 1 Kornelia Neveling
+/. 19 c.1859_1862del - r.(?) p.(Arg621Ilefs*2) Unknown g.88508922_88508925del g.88115145_88115148del - - CEP290_000036 copied from CEP290 database - - - Germline - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 2 Johan den Dunnen
+/+ 19 c.1860_1861del - r.(1860_1861del) p.(Asp622Phefs*5) Unknown g.88508923_88508924del g.88115146_88115147del c.1860_1861delAA: p.Glu620GlufsX7 - CEP290_000035 1 MKS4 family of undetermined ethnicity (com-het) PubMed: Baala 2007 - - SUMMARY record yes - - 0 - - - - - - - - - - - - - - - - - - -
+/. 19 c.1860_1861del - r.(?) p.(Asp622Phefs*5) Unknown g.88508923_88508924del g.88115146_88115147del - - CEP290_000035 copied from CEP290 database - - - Germline - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 1 Johan den Dunnen
+/. 19i c.1910-2A>C - r.spl p.? Unknown g.88508341T>G g.88114564T>G - - CEP290_000117 copied from CEP290 database - - - Germline - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 1 Johan den Dunnen
+/. 20 c.1936C>T - r.(?) p.(Gln646*) Unknown g.88508313G>A g.88114536G>A - - CEP290_000039 copied from CEP290 database - - - Germline - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 1 Johan den Dunnen
+/. 20 c.1975A>T - r.(?) p.(Lys659*) Parent #1 g.88508274T>A g.88114497T>A - - CEP290_000152 - PubMed: Watson 2016, Journal: Watson 2016 - - Germline - - - 0 - DNA SEQ-NG - - MKS-1 - PubMed: Watson 2016, Journal: Watson 2016 - - - United Kingdom (Great Britain) - - 0 - - 1 Christopher Watson
+/+ 20 c.1984C>T - r.(1984c>u) p.(Gln662*) Unknown g.88508265G>A g.88114488G>A 1984C>T: p.Gln662X; p.Q662X - CEP290_000040 1 European MKS4 patient (com-het) and 1 French MKS4 patient (05/158; het) reported as MKS in Travaglini et al. 2009 and "Meckel-like" in Baala et. al 2007 PubMed: Baala et al. 2007, PubMed: Tallila et al. 2008, PubMed: Travaglini et al. 2009 - - SUMMARY record yes - - 0 - - - - - - - - - - - - - - - - - - -
+/. 20 c.1984C>T - r.(?) p.(Gln662*) Unknown g.88508265G>A g.88114488G>A - - CEP290_000040 copied from CEP290 database - - - Germline - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 1 Johan den Dunnen
+/. 20 c.1985A>T - r.(?) p.(Gln662Leu) Unknown g.88508264T>A g.88114487T>A - - CEP290_000037 copied from CEP290 database - - - Germline - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 1 Johan den Dunnen
+?/. 20 c.1991A>G - r.(?) p.(Asp664Gly) Parent #2 g.88508258T>C g.88114481T>C - - CEP290_000007 predicted to affect function, but insufficient evidence for definite conclusion PubMed: Neveling 2012 - - Germline - - - 0 - DNA SEQ, SEQ-NG-S - - RP - - - F - - - - 0 - - 1 Kornelia Neveling
?/. 20 c.1991A>G - r.(?) p.(Asp664Gly) Unknown g.88508258T>C g.88114481T>C - - CEP290_000007 copied from CEP290 database - - - Germline - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 2 Johan den Dunnen
+/. 20 c.1992del - r.(?) p.(Pro665Leufs*10) Unknown g.88508257del g.88114480del - - CEP290_000038 copied from CEP290 database - - - Germline - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 1 Johan den Dunnen
-/. 20i c.2052+30del - r.? p.? Unknown g.88508167del g.88114390del - - CEP290_000118 copied from CEP290 database - - rs11358611 Germline - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 1 Johan den Dunnen
-/. 21 c.2055T>C - r.(?) p.(=) Unknown g.88505633A>G g.88111856A>G - - CEP290_000041 copied from CEP290 database - - - Germline - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 1 Johan den Dunnen
./. - c.2055T>C - r.(=) p.(=) Unknown g.88505633A>G - CEP290:c.2055T>C (=) - CEP290_000041 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
./. - c.2055T>C - r.(=) p.(=) Unknown g.88505633A>G - CEP290:NM_025114.3:c.2055T>C (Ala685Ala) - CEP290_000041 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 21 c.2118_2122dup - r.(?) p.(Thr709Serfs*9) Unknown g.88505566_88505570dup g.88111789_88111793dup - - CEP290_000042 copied from CEP290 database - - rs62640580 Germline - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 1 Johan den Dunnen
-/. 21i c.2217+45T>C - r.? p.? Unknown g.88505426A>G g.88111649A>G - - CEP290_000121 copied from CEP290 database - - rs45461003 Germline - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 1 Johan den Dunnen
+/. 21i_22 c.2218-15_2220del - r.spl p.? Unknown g.88505126_88505143del g.88111349_88111366del - - CEP290_000043 copied from CEP290 database - - - Germline - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 1 Johan den Dunnen
+/. 21i_22 c.2218-4_2222del - r.spl p.? Unknown g.88505124_88505132del g.88111347_88111355del - - CEP290_000119 copied from CEP290 database - - - Germline - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 1 Johan den Dunnen
+/. 21i_22 c.2218-4_2222del - r.spl p.? Unknown g.88505124_88505132del g.88111347_88111355del - - CEP290_000119 - OMIM:var0004 - - Germline - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 1 Johan den Dunnen
+/. 21i c.2218-2A>C - r.spl p.? Unknown g.88505130T>G g.88111353T>G - - CEP290_000120 copied from CEP290 database - - - Germline - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 1 Johan den Dunnen
+/. 22 c.2249T>G - r.(?) p.(Leu750*) Unknown g.88505097A>C g.88111320A>C - - CEP290_000047 - OMIM:var0006 - - Germline - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 1 Johan den Dunnen
+/. 22 c.2249T>G - r.(?) p.(Leu750*) Unknown g.88505097A>C g.88111320A>C - - CEP290_000047 copied from CEP290 database - - - Germline - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 2 Johan den Dunnen
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