Full data view for gene KIF11


This database is one of the "Vascular anomalies and lymphedema" gene variant databases.
Information The variants shown are described using the NM_004523.3 transcript reference sequence.

267 entries on 3 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     
+/. _1_1i c.-7811_78-6072del r.0? p.0? Paternal (confirmed) - pathogenic (dominant) g.94345323_94359951del g.92585566_92600194del chr10:94345322_94359950del - KIF11_000132 father also with microcephaly PubMed: Hull 2019 - - Germline yes - - - - DNA SEQ-NG-I - WGS EVR;FEVR GC19303 Pt6 PubMed: Hull 2019 2 generation family, 2 affected M no United Kingdom (Great Britain) - - - - - 2 Jasmine Chen
+?/. 11i_22_ c.(1305+1_1306-1)_*1599{0} r.? p.? Unknown - likely pathogenic g.(94388653_94389932)_(94413558_?)del - c.(1305+1_1306-1)_(*1_?)del - KIF11_000168 normal 2nd chromosome PubMed: Ellingsford 2018 - - Germline - - - - - DNA SEQ-NG - CNV gene panel next-generation sequencing retinal disease 15012122 PubMed: Ellingsford 2018 - - - United Kingdom (Great Britain) - - - - - 1 LOVD
+?/. - c.? r.(?) p.(?) Maternal (confirmed) - likely pathogenic g.94345322_94359501del g.92585565_92599744del chr10:94345322_94359501del, p.(?) - KIF11_000157 heterozygous PubMed: Hull 2019 - - Germline ? - - - - DNA SEQ-NG blood WGS retinal disease Pt 6 PubMed: Hull 2019 Family GC19303 M no United Kingdom (Great Britain) - - - - - 1 LOVD
+?/. - c.? r.(?) p.(?) Unknown - likely pathogenic g.94345322_94359501del g.92585565_92599744del chr10:94345322_94359501del, p.(?) - KIF11_000157 heterozygous PubMed: Hull 2019 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG blood WGS retinal disease Mother of Pt 6 PubMed: Hull 2019 Family GC19303 M no United Kingdom (Great Britain) - - - - - 1 LOVD
+?/+? 1 c.2T>C r.(?) (p.Met1Thr) Unknown - likely pathogenic g.94353134T>C g.92593377T>C c.1C>T - KIF11_000060 - PubMed: Mirzaa 2014 - - De novo - - - - - DNA SEQ - - MCLMR - PubMed: Mirzaa et al 2014 - M no (United States) white - - - - 1 Pia Ostergaard
+/. - c.77+1G>A r.spl? p.? Unknown - pathogenic g.94353210G>A - - - KIF11_000144 - - - - De novo - - - - - DNA SEQ-NG - - MCLMR 5 - - F - China - - - - - 1 Sha Hong
?/. - c.77+3A>G r.spl? p.? Unknown - VUS g.94353212A>G g.92593455A>G - - KIF11_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.77+5G>C r.spl? p.? Unknown - likely benign g.94353214G>C g.92593457G>C KIF11(NM_004523.3):c.77+5G>C (p.?), KIF11(NM_004523.4):c.77+5G>C - KIF11_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.77+5G>C r.spl? p.? Unknown - likely benign g.94353214G>C g.92593457G>C KIF11(NM_004523.3):c.77+5G>C (p.?), KIF11(NM_004523.4):c.77+5G>C - KIF11_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.77+5G>C r.spl? p.? Unknown - likely benign g.94353214G>C - KIF11(NM_004523.3):c.77+5G>C (p.?), KIF11(NM_004523.4):c.77+5G>C - KIF11_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.77+9_77+11del r.(=) p.(=) Unknown - likely benign g.94353218_94353220del g.92593461_92593463del KIF11(NM_004523.3):c.77+9_77+11delAGG, KIF11(NM_004523.4):c.77+9_77+11delAGG - KIF11_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.77+9_77+11del r.(=) p.(=) Unknown - benign g.94353218_94353220del g.92593461_92593463del KIF11(NM_004523.3):c.77+9_77+11delAGG, KIF11(NM_004523.4):c.77+9_77+11delAGG - KIF11_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.78-3412_78-3409dup r.(=) p.(=) Unknown - likely benign g.94362610_94362613dup - KIF11(NM_004523.4):c.78-3412_78-3409dup - KIF11_000189 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.78-3410_78-3409del r.(=) p.(=) Unknown - likely benign g.94362612_94362613del - KIF11(NM_004523.4):c.78-3410_78-3409del - KIF11_000190 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.105T>C r.(?) p.(Ala35=) Unknown - likely benign g.94366049T>C - KIF11(NM_004523.4):c.105T>C (p.A35=) - KIF11_000172 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.131_132dup r.(?) p.(Pro45Ilefs*92) Maternal (confirmed) - pathogenic (dominant) g.94366075_94366076dup g.92606318_92606319dup 131_132dupAT - KIF11_000133 - PubMed: Hu 2015 - - Germline yes - - - - DNA SEQ-NG-I - WES EVR;FEVR QT1314 II:1 PubMed: Hu 2015 2 generation, 2 affected F no China - - - - - 2 Jasmine Chen
+?/? 2 c.139C>T r.(?) p.(Arg47*) Unknown - likely pathogenic g.94366083C>T g.92606326C>T - - KIF11_000008 - PubMed: Hazan 2012 - - De novo yes - - - - DNA PCR - - MCLMR - PubMed: Hazan 2012 - M yes Turkey - - - - - 1 Pia Ostergaard
+?/+? 2 c.139C>T r.(?) p.(Arg47*) Unknown - likely pathogenic g.94366083C>T g.92606326C>T - - KIF11_000008 - PubMed: Robitaille 2014 - - Unknown - - - - - DNA ? - - ? - PubMed: Robitaille et al 2014 Robitaille et al. (2014) found phenotypic overlap between FEVR and microcephaly with or without chorioretinopathy, lymphedema, or mental retardation (MCLMR; 152950) M ? - - - - - - 1 Pia Ostergaard
+?/+? 2 c.157C>T r.(?) p.(Arg53*) Unknown - likely pathogenic g.94366101C>T g.92606344C>T - - KIF11_000028 - - - - Unknown ? - - - - DNA SEQ - - MCLMR - - - M no (United Kingdom (Great Britain)) - - - - - 1 Pia Ostergaard
+/. - c.157C>T r.(?) p.(Arg53Ter) Unknown - pathogenic g.94366101C>T g.92606344C>T - - KIF11_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.193A>G r.(?) p.(Thr65Ala) Unknown - likely benign g.94366137A>G g.92606380A>G KIF11(NM_004523.4):c.193A>G (p.T65A) - KIF11_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.193_195del r.(?) p.(Thr65del) Unknown - VUS g.94366137_94366139del - KIF11(NM_004523.3):c.193_195delACA (p.T65del) - KIF11_000156 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.196_197del r.(?) p.(Tyr66Hisfs*3) Unknown - likely pathogenic g.94366140_94366141del g.92606383_92606384del 195_196delAT - KIF11_000152 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 638 PubMed: Stone 2017 1 affected M - (United States) - - - - - 1 LOVD
+?/. - c.196_197del r.(?) p.(Tyr66Hisfs*3) Unknown - likely pathogenic g.94366140_94366141del g.92606383_92606384del KIF11 Thr65 del 2 base pair AT - KIF11_000152 no nucleotide annotation, extrapolated from protein, sequence and databases; heterozygous PubMed: Mears 2015 - - Germline yes - - - - DNA SEQ - - MCLMR ? PubMed: Mears 2015 - M - - - - - - - 1 LOVD
+?/? 2 c.204dup r.(?) p.(Asp69*) Maternal (confirmed) - likely pathogenic g.94366148dup g.92606391dup - - KIF11_000017 - PubMed: Jones 2014 - - Germline yes - - - - DNA PCR - - MCLMR - Family II in PubMed: Jones et al 2014 - M no (United Kingdom (Great Britain)) - - - - - 1 Pia Ostergaard
+?/. 2 c.204dup r.(?) p.(Asp69Ter) Unknown - likely pathogenic g.94366148dup g.92606391dup KIF11 c.204dup, p.Asp69X - KIF11_000017 heterozygous PubMed: Balikova 2016 - - Germline yes - - - - DNA SEQ - - MCLMR P5 PubMed: Balikova 2016 - M - - - - - - - 1 LOVD
+?/. - c.210+3A>C r.spl? p.? Unknown - likely pathogenic g.94366157A>C g.92606400A>C KIF11 c.210+3A>C, p.? - KIF11_000180 heterozygous PubMed: Chen 2020 - - De novo ? - - - - DNA SEQ-NG, SEQ blood targeted next-generation sequencing retinal disease 336_II:1 PubMed: Chen 2020 proband, family 336, individual II:1 M - China Chinese - - - - 1 LOVD
-?/. - c.211-14dup r.(=) p.(=) Unknown - likely benign g.94366362dup g.92606605dup KIF11(NM_004523.4):c.211-14dupA - KIF11_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 3 c.245A>T r.(?) p.(Tyr82Phe) Unknown - pathogenic g.94366410A>T g.92606653A>T - - KIF11_000048 - PubMed: Schlogel 2015 - - De novo - - - - - DNA SEQ - - MCLMR 25934493-PatI10 PubMed: Schlogel 2015 - - - Belgium - - - - - 1 Pascal Brouillard
+?/. 3 c.246C>A r.(?) p.(Tyr82*) Unknown - likely pathogenic g.94366411C>A g.92606654C>A KIF11 246C?>?A, Tyr82* - KIF11_000158 - PubMed: Wang 2019 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG blood - retinal disease ? PubMed: Wang 2019 - - - China - - - - - 1 LOVD
+?/. - c.246C>A r.(?) p.(Tyr82*) Unknown - likely pathogenic g.94366411C>A g.92606654C>A KIF11 c.246C>A, p.(Tyr82*) - KIF11_000158 heterozygous; parents not available PubMed: Chen 2020 - - Unknown ? - - - - DNA SEQ-NG, SEQ blood targeted next-generation sequencing retinal disease 417_II:1 PubMed: Chen 2020 proband, family 417, individual II:1 M - China Chinese - - - - 1 LOVD
+/. - c.247C>T r.(?) p.(Arg83Ter) Unknown - pathogenic g.94366412C>T g.92606655C>T - - KIF11_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.247C>T r.(?) p.(Arg83*) Unknown - pathogenic g.94366412C>T g.92606655C>T - - KIF11_000102 - PubMed: Hull 2019 - rs1064796738 De novo - - - - - DNA ? - WES EVR;FEVR GC21489 Pt3 PubMed: Hull 2019 2 generation family, 1 affected M no United Kingdom (Great Britain) - - - - - 1 Jasmine Chen
+?/. - c.247C>T r.(?) p.(Arg83*) Unknown - likely pathogenic g.94366412C>T g.92606655C>T c.247C>T, p.(Arg83*) - KIF11_000102 heterozygous PubMed: Hull 2019 - - De novo ? - - - - DNA SEQ-NG blood WES retinal disease Pt 3 PubMed: Hull 2019 Family GC21489 M no United Kingdom (Great Britain) - - - - - 1 LOVD
?/. - c.250A>G r.(?) p.(Ser84Gly) Unknown - VUS g.94366415A>G - KIF11(NM_004523.4):c.250A>G (p.S84G) - KIF11_000187 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.299C>T r.(?) p.(Thr100Ile) Unknown - likely pathogenic g.94366464C>T g.92606707C>T KIF11(NM_004523.4):c.299C>T (p.T100I) - KIF11_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 3i c.308+1G>A r.spl? p.? Unknown - likely pathogenic g.94366474G>A g.92606717G>A - - KIF11_000037 - - - - De novo - - - - - DNA SEQ - - MCLMR - - - F no (United Kingdom (Great Britain)) - - - - - 1 Pia Ostergaard
+/. - c.308+1G>A r.spl? p.? Unknown - pathogenic g.94366474G>A g.92606717G>A - - KIF11_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 3i c.308+1G>T r.spl p.? Parent #1 - pathogenic g.94366474G>T g.92606717G>T - - KIF11_000049 - PubMed: Schlogel 2015 - - Germline yes - - - - DNA SEQ - - MCLMR 25934493-PatII1 PubMed: Schlogel 2015 - - - Belgium - - - - - 1 Pascal Brouillard
?/. - c.308+3A>C r.spl? p.? Unknown - VUS g.94366476A>C g.92606719A>C - - KIF11_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.308+5G>T r.spl? p.? Unknown - likely pathogenic g.94366478G>T g.92606721G>T - - KIF11_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.308+13G>A r.(=) p.(=) Unknown - likely benign g.94366486G>A g.92606729G>A KIF11(NM_004523.4):c.308+13G>A - KIF11_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3i_4i c.308+88_387+328del r.? p.? Unknown - pathogenic (dominant) g.94366561_94367322del g.92606804_92607565del chr10:94366561_94367322del - KIF11_000131 762bp deletion exon 4 PubMed: Hull 2019 - - De novo - - - - - DNA SEQ-NG-I - WGS EVR;FEVR GC18797 Pt5 PubMed: Hull 2019 2 generation family, 1 affected M no United Kingdom (Great Britain) - - - - - 1 Jasmine Chen
+?/. - c.308+88_387+328del r.(?) p.(?) Unknown - likely pathogenic g.94366561_94367322del g.92606804_92607565del chr10:94366561_94367322del, p.(?) - KIF11_000131 heterozygous PubMed: Hull 2019 - - De novo ? - - - - DNA SEQ-NG blood WES retinal disease Pt 5 PubMed: Hull 2019 Family GC18797 M no United Kingdom (Great Britain) - - - - - 1 LOVD
-/. - c.309-18A>G r.(=) p.(=) Unknown - benign g.94366898A>G g.92607141A>G KIF11(NM_004523.4):c.309-18A>G - KIF11_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 4 c.316del r.(?) p.(Gln106Lysfs*30) Unknown - likely pathogenic g.94366923del g.92607166del KIF11 316del, Gln106Lysfs*30 - KIF11_000159 - PubMed: Wang 2019 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG blood - retinal disease ? PubMed: Wang 2019 - - - China - - - - - 1 LOVD
+/. - c.316del r.(?) p.(Gln106Lysfs*30) Unknown - pathogenic g.94366923del g.92607166del c.316del, p.(Gln106Lysfs*30) - KIF11_000159 heterozygous PubMed: Wang 2019 - - De novo yes - - - - DNA SEQ-NG blood panel of 126 genes retinal disease 13672 PubMed: Wang 2019 - F - China - - - - - 1 LOVD
+?/. - c.316delC r.(?) p.(Gln106Lysfs*30) Unknown - likely pathogenic g.94366923del g.92607166del KIF11 c.316delC, p.(Gln106Lysfs*30) - KIF11_000159 heterozygous PubMed: Chen 2020 - - De novo ? - - - - DNA SEQ-NG, SEQ blood targeted next-generation sequencing retinal disease 227_II:1 PubMed: Chen 2020 proband, family 227, individual II:1 F - China Chinese - - - - 1 LOVD
+?/. - c.336delT r.(?) p.(Phe113Leufs*23) Unknown - likely pathogenic g.94366946del g.92607189del 336delT, Thr112fs - KIF11_000166 error in annotation: c.336delT causes p.(Phe113Leufs*23) and not p.(Thr112fs) PubMed: Chen 2020 - - Germline yes - - - - DNA SEQ-NG blood custom genetic pediatric retinal disease panel (Tang et al., 2017) retinal disease 463 PubMed: Chen 2020 - ? - China - - - - - 1 LOVD
+/. - c.381G>A r.(?) p.(Trp127*) Unknown ACMG pathogenic g.94366988G>A - - - KIF11_000147 - PubMed: Sharon 2019 - - Germline - 1/2420 IRD families - - - DNA SEQ - - retinal disease - PubMed: Sharon 2019 1 IRD family - - Israel - - - - - 1 Global Variome, with Curator vacancy
+?/? 4 c.385G>T r.(?) p.(Glu129*) Unknown - likely pathogenic g.94366992G>T g.92607235G>T - - KIF11_000016 - PubMed: Jones 2014 - - De novo yes - - - - DNA PCR - - MCLMR - Family III in PubMed: Jones et al 2014 - F no (United Kingdom (Great Britain)) - - - - - 1 Pia Ostergaard
+?/? 4i c.387+1G>A r.spl? p.? Maternal (confirmed) - likely pathogenic g.94366995G>A g.92607238G>A - - KIF11_000018 - PubMed: Jones 2014 - - Germline yes - posterga - - DNA PCR - - MCLMR - Family IV in PubMed: Jones et al 2014 - M no (United Kingdom (Great Britain)) - - - - - 1 Pia Ostergaard
+?/. 4i c.387+1G>A r.(?) p.? Unknown - likely pathogenic g.94366995G>A g.92607238G>A KIF11 c.387 + 1G>A, donor splice site - KIF11_000018 heterozygous PubMed: Balikova 2016 - - Germline yes - - - - DNA SEQ - - MCLMR P7 PubMed: Balikova 2016 - M - - - - - - - 1 LOVD
+?/? 5 c.432T>G r.(?) p.(Phe144Leu) Unknown - likely pathogenic g.94368821T>G g.92609064T>G - - KIF11_000003 - PubMed: Ostergaard 2012 - - Unknown ? - - - - DNA PCR - - MCLMR - PubMed: Ostergaard 2012 - M no (United Kingdom (Great Britain)) - - - - - 1 Pia Ostergaard
+/+ 5 c.436A>T r.(?) p.(Lys146*) Parent #1 - pathogenic g.94368825A>T g.92609068A>T - - KIF11_000050 - PubMed: Schlogel 2015 - - Germline yes - - - - DNA SEQ - - MCLMR 25934493-PatIII10 PubMed: Schlogel 2015 - - - Belgium - - - - - 1 Pascal Brouillard
-?/. - c.447T>C r.(?) p.(Asp149=) Unknown - likely benign g.94368836T>C g.92609079T>C KIF11(NM_004523.3):c.447T>C (p.D149=) - KIF11_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.478_479del r.(?) p.(Leu160Valfs*5) Unknown - likely pathogenic (recessive) g.94368867_94368868del g.92609110_92609111del - - KIF11_000149 - PubMed: Taylor 2017 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease 15023722 PubMed: Taylor 2017 no family history retinal disease F - United Kingdom (Great Britain) - - - - - 1 LOVD
+?/. - c.478_479del r.(?) p.(Leu160Valfs*5) Unknown - likely pathogenic g.94368867_94368868del g.92609110_92609111del KIF11;NM_004523.3;c.[478_479del];[478_479=]p.[(Leu160Valfs*5)];[(Leu160=)] - KIF11_000149 heterozygous PubMed: Jiman 2020 - - Unknown ? - - - - DNA SEQ-NG-I - 176 genes panel retinal disease 57 PubMed: Jiman 2020 - F - (United Kingdom (Great Britain)) - - - - - 1 LOVD
+?/. 5 c.494A>G r.(?) p.(Asn165Ser) Unknown - likely pathogenic g.94368883A>G g.92609126A>G KIF11 494A?>?G, Asn165Ser - KIF11_000160 - PubMed: Wang 2019 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG blood - retinal disease ? PubMed: Wang 2019 - - - China - - - - - 1 LOVD
+?/. - c.494A>G r.(?) p.(Asn165Ser) Unknown - likely pathogenic g.94368883A>G g.92609126A>G KIF11 c.494A>G, p.(Asn165Ser) - KIF11_000160 heterozygous PubMed: Chen 2020 - - De novo ? - - - - DNA SEQ-NG, SEQ blood targeted next-generation sequencing retinal disease 171_II:1 PubMed: Chen 2020 proband, family 171, individual II:1 M - China Chinese - - - - 1 LOVD
+/. 5 c.511C>G r.(?) p.(Leu171Val) Unknown - pathogenic g.94368900C>G g.92609143C>G - - KIF11_000138 de novo in patient PubMed: Li 2016 - - De novo ? 1/142 probands - - - DNA SEQ-NG-I - gene panel (21 genes) EVR;FEVR, MCLMR Patient 1 PubMed: Li 2016 isolated M ? China - - - - - 1 Jasmine Chen
?/. - c.565C>T r.(?) p.(Arg189Cys) Unknown - VUS g.94368954C>T g.92609197C>T KIF11(NM_004523.3):c.565C>T (p.(Arg189Cys)), KIF11(NM_004523.4):c.565C>T (p.R189C) - KIF11_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.565C>T r.(?) p.(Arg189Cys) Unknown - VUS g.94368954C>T - KIF11(NM_004523.3):c.565C>T (p.(Arg189Cys)), KIF11(NM_004523.4):c.565C>T (p.R189C) - KIF11_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 5 c.567del r.(?) p.(Asn190Thrfs*5) Unknown - likely pathogenic g.94368956del g.92609199del KIF11 567delT, Asn190Thrfs*5 - KIF11_000161 - PubMed: Wang 2019 - - Germline ? - - - - DNA SEQ-NG blood - retinal disease ? PubMed: Wang 2019 - - - China - - - - - 1 LOVD
+/. - c.567del r.(?) p.(Asn190Thrfs*5) Unknown - pathogenic g.94368956del g.92609199del c.567delT, p.(Asn190Thrfs*5) - KIF11_000161 heterozygous PubMed: Wang 2019 - - Germline yes - - - - DNA SEQ-NG blood panel of 126 genes retinal disease 13487 PubMed: Wang 2019 - F - China - - - - - 1 LOVD
+?/. - c.567delT r.(?) p.(Asn190Thrfs*5) Paternal (confirmed) - likely pathogenic g.94368956del g.92609199del KIF11 c.567delT, p.(Asn190Thrfs*5) - KIF11_000161 heterozygous; elder sister and father carried the same mutation PubMed: Chen 2020 - - Germline yes - - - - DNA SEQ-NG, SEQ blood targeted next-generation sequencing retinal disease 242_III:1 PubMed: Chen 2020 proband, family 242, individual III:1 F - China Chinese - - - - 1 LOVD
+?/. - c.567delT r.(?) p.(Asn190Thrfs*5) Paternal (confirmed) - likely pathogenic g.94368956del g.92609199del KIF11 c.567delT, p.(Asn190Thrfs*5) - KIF11_000161 heterozygous PubMed: Chen 2020 - - Germline yes - - - - DNA SEQ-NG, SEQ blood targeted next-generation sequencing retinal disease 242_II:1 PubMed: Chen 2020 father, family 242, individual II:1 F - China Chinese - - - - 1 LOVD
+?/. - c.567delT r.(?) p.(Asn190Thrfs*5) Paternal (confirmed) - likely pathogenic g.94368956del g.92609199del KIF11 c.567delT, p.(Asn190Thrfs*5) - KIF11_000161 heterozygous PubMed: Chen 2020 - - Germline yes - - - - DNA SEQ-NG, SEQ blood targeted next-generation sequencing retinal disease 242_III:2 PubMed: Chen 2020 sister, family 242, individual III:2 F - China Chinese - - - - 1 LOVD
-?/. - c.574-43_574-42del r.(=) p.(=) Unknown - likely benign g.94369099_94369100del - KIF11(NM_004523.4):c.574-43_574-42del - KIF11_000196 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.619A>T r.(?) p.(Lys207*) Unknown - pathogenic g.94369187A>T - - - KIF11_000186 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.620delA r.(?) p.(Lys207Argfs*8) Paternal (inferred) - likely pathogenic g.94369188del g.92609431del KIF11 c.620delA: p.K207Rfs*8 - KIF11_000181 heterozygous PubMed: Shurygina 2020 - - Germline yes - - - - DNA SEQ-NG, SEQ blood targeted next-generation sequencing retinal disease P1 PubMed: Shurygina 2020 - M - - - - - - - 1 LOVD
+?/. - c.620delA r.(?) p.(Lys207Argfs*8) Paternal (inferred) - likely pathogenic g.94369188del g.92609431del KIF11 c.620delA: p.K207Rfs*8 - KIF11_000181 heterozygous PubMed: Shurygina 2020 - - Germline yes - - - - DNA SEQ-NG, SEQ blood targeted next-generation sequencing retinal disease P2 PubMed: Shurygina 2020 - M - - - - - - - 1 LOVD
+/+ 6 c.630del r.(?) p.(Tyr211Ilefs*4) Parent #1 - pathogenic g.94369198del g.92609441del - - KIF11_000051 - PubMed: Schlogel 2015 - - Germline - - - - - DNA SEQ - - MCLMR 25934493-PatIV1 PubMed: Schlogel 2015 - - - Belgium - - - - - 1 Pascal Brouillard
+?/+? 6 c.652dup r.(?) p.(Ala218Glyfs*16) Unknown - likely pathogenic g.94369220dup g.92609463dup p.A218Gfs*15 - KIF11_000045 - PubMed: Robitaille 2014 - - De novo - - - - - DNA ? - - ? - PubMed: Robitaille et al 2014 Robitaille et al. (2014) found phenotypic overlap between FEVR and microcephaly with or without chorioretinopathy, lymphedema, or mental retardation (MCLMR; 152950) M no - - - - - - 1 Pia Ostergaard
+?/+? 6 c.661A>G r.(?) p.(Arg221Gly) Unknown - likely pathogenic g.94369229A>G g.92609472A>G - - KIF11_000047 - PubMed: Robitaille 2014 - - Germline - - - - - DNA ? - - ? - PubMed: Robitaille et al 2014 Robitaille et al. (2014) found phenotypic overlap between FEVR and microcephaly with or without chorioretinopathy, lymphedema, or mental retardation (MCLMR; 152950) F ? - - - - - - 1 Pia Ostergaard
?/. - c.665C>T r.(?) p.(Thr222Ile) Unknown - VUS g.94369233C>T g.92609476C>T KIF11(NM_004523.4):c.665C>T (p.T222I) - KIF11_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.669_670dup r.(?) p.(Ala224Valfs*5) Unknown - likely pathogenic g.94369237_94369238dup g.92609480_92609481dup KIF11 c.669_670dup, - KIF11_000182 heterozygous PubMed: Shurygina 2020 - - De novo ? - - - - DNA SEQ-NG, SEQ blood targeted next-generation sequencing retinal disease P3 PubMed: Shurygina 2020 - M - - - - - - - 1 LOVD
-?/. - c.679C>T r.(?) p.(Leu227=) Unknown - likely benign g.94369247C>T g.92609490C>T KIF11(NM_004523.3):c.679C>T (p.L227=), KIF11(NM_004523.4):c.679C>T (p.L227=) - KIF11_000108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.679C>T r.(?) p.(Leu227=) Unknown - likely benign g.94369247C>T - KIF11(NM_004523.3):c.679C>T (p.L227=), KIF11(NM_004523.4):c.679C>T (p.L227=) - KIF11_000108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 6i c.698+2T>C r.spl? p.? Unknown - likely pathogenic g.94369268T>C g.92609511T>C - - KIF11_000032 - - - - Unknown ? - - - - DNA SEQ - - MCLMR - - - M no (United Kingdom (Great Britain)) - - - - - 1 Pia Ostergaard
+?/? 6i c.699-2A>G r.spl? p.? Unknown - likely pathogenic g.94372795A>G g.92613038A>G - - KIF11_000001 - PubMed: Ostergaard 2012 - - De novo yes - - - - DNA PCR - - MCLMR - PubMed: Ostergaard 2012 - M no (United Kingdom (Great Britain)) - - - - - 1 Pia Ostergaard
+?/. 6i c.699-2A>G r.(?) p.? Unknown - likely pathogenic g.94372795A>G g.92613038A>G KIF11 c.699-2A>G, acceptor splice site - KIF11_000001 heterozygous PubMed: Balikova 2016 - - Germline yes - - - - DNA SEQ - - MCLMR P4 PubMed: Balikova 2016 - M - - - - - - - 1 LOVD
+?/? 7 c.700C>T r.(?) p.(Arg234Cys) Unknown - likely pathogenic g.94372798C>T g.92613041C>T p.(Arg234Cys) - KIF11_000004 - PubMed: Ostergaard 2012 - - Unknown ? - - - - DNA PCR - - MCLMR - PubMed: Ostergaard 2012 - M no (United Kingdom (Great Britain)) - - - - - 1 Pia Ostergaard
+?/. 7 c.700C>T r.(?) p.(Arg234Cys) Unknown - likely pathogenic g.94372798C>T g.92613041C>T KIF11 c.700C>T, p.Arg234Cys - KIF11_000004 heterozygous PubMed: Balikova 2016 - - Germline yes - - - - DNA SEQ - - MCLMR P3 PubMed: Balikova 2016 - M - - - - - - - 1 LOVD
+?/? 7 c.704C>G r.(?) p.(Ser235Cys) Maternal (confirmed) - likely pathogenic g.94372802C>G g.92613045C>G - - KIF11_000005 - PubMed: Ostergaard 2012 - - Germline yes - - - - DNA PCR - - MCLMR - PubMed: Ostergaard 2012 - F no (United Kingdom (Great Britain)) - - - - - 1 Pia Ostergaard
+?/+? 7 c.730C>T r.(?) p.(His244Tyr) Unknown - likely pathogenic g.94372828C>T g.92613071C>T - - KIF11_000024 - - - - De novo - - - - - DNA PCR - - MCLMR - - - ? no Spain - - - - - 1 Pia Ostergaard
+?/+? 7 c.730C>T r.(?) p.(His244Tyr) Unknown - likely pathogenic g.94372828C>T g.92613071C>T c.729C>T - KIF11_000024 - PubMed: Mirzaa 2014 - - De novo - - - - - DNA SEQ - - MCLMR - PubMed: Mirzaa et al 2014 - F no (United States) white - - - - 1 Pia Ostergaard
?/. - c.733A>G r.(733a>g) p.(Met245Val) Unknown - VUS g.94372831A>G g.92613074A>G - - KIF11_000165 - - - - Germline - - - - - DNA SEQ-NG - - DFN - - - - - - - - - - - 1 Tao Cai
+?/? 7 c.757_758del r.(?) p.(Glu253Argfs*4) Paternal (confirmed) - likely pathogenic g.94372855_94372856del g.92613098_92613099del - - KIF11_000019 - PubMed: Ostergaard 2012 - - Germline yes - - - - DNA PCR - - MCLMR - Family X in PubMed: Jones et al 2014 - M no (United Kingdom (Great Britain)) - - - - - 1 Pia Ostergaard
+?/? 7 c.775G>T r.(?) p.(Gly259*) Maternal (confirmed) - likely pathogenic g.94372873G>T g.92613116G>T - - KIF11_000020 - PubMed: Ostergaard 2012 - - Germline yes - - - - DNA PCR - - MCLMR - Family IX in PubMed: Jones et al 2014 - M no (United Kingdom (Great Britain)) - - - - - 1 Pia Ostergaard
+?/. - c.789+5G>A r.spl? p.? Unknown - likely pathogenic g.94372892G>A g.92613135G>A - - KIF11_000126 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 7i c.790-3A>G r.spl? p.? Parent #1 - pathogenic g.94373131A>G g.92613374A>G - - KIF11_000052 - PubMed: Schlogel 2015 - - Germline - - - - - DNA SEQ - - MCLMR 25934493-PatV1 PubMed: Schlogel 2015 - - - Belgium - - - - - 1 Pascal Brouillard
+/. 4 c.790-2A>C r.spl p.? Unknown - likely pathogenic (dominant) g.94373132A>C g.92613375A>C - - KIF11_000139 heterozygous, de novo PubMed: Li 2016 - - De novo ? 1/142 probands - - - DNA SEQ-NG-I - gene panel (21 genes) EVR;FEVR Patient 2 PubMed: Li 2016 isolated F no China - - - - - 1 Jasmine Chen
+?/+? 7i c.790-1G>A r.spl? p.? Unknown - likely pathogenic g.94373133G>A g.92613376G>A - - KIF11_000061 - PubMed: Mirzaa 2014 - - De novo - - - - - DNA SEQ - - MCLMR - PubMed: Mirzaa et al 2014 - M no (United States) white - - - - 1 Pia Ostergaard
+?/+? 7i c.790-1G>T r.spl? p.? Unknown - likely pathogenic g.94373133G>T g.92613376G>T - - KIF11_000046 - PubMed: Robitaille 2014 - - Unknown - - - - - DNA ? - - ? - PubMed: Robitaille et al 2014 Robitaille et al. (2014) found phenotypic overlap between FEVR and microcephaly with or without chorioretinopathy, lymphedema, or mental retardation (MCLMR; 152950) M ? - - - - - - 1 Pia Ostergaard
+/. 8 c.808G>T r.(?) p.(Glu270*) Unknown - pathogenic g.94373152G>T g.92613395G>T - - KIF11_000134 de novo in patient PubMed: Birtel 2017 - - De novo ? - - - - DNA SEQ-NG-I - gene panel (44 genes) EVR;FEVR Patient 3 PubMed: Birtel 2017 isolated M no Germany - - - - - 1 Jasmine Chen
+/. 8 c.808G>T r.(?) p.(Glu270*) Parent #1 - pathogenic (dominant) g.94373152G>T g.92613395G>T - - KIF11_000134 - PubMed: Birtel 2018 - - Germline - - - - - DNA SEQ-NG - - retinal disease Pat180 PubMed: Birtel 2018 patient M - Germany - - - - - 1 LOVD
+?/+? 8 c.843_844del r.(?) p.(Arg281Serfs*34) Unknown - likely pathogenic (dominant) g.94373187_94373188del g.92613430_92613431del 843_844delAG - KIF11_000029 - - - - Germline/De novo (untested) ? - - - - DNA SEQ - - MCLMR - - - M no (United Kingdom (Great Britain)) Chinese - - - - 1 Pia Ostergaard
+?/. - c.994A>G r.(?) p.(Ile332Val) Unknown - likely pathogenic g.94373338A>G g.92613581A>G c.994A>G, p.(Ile332Val) - KIF11_000162 heterozygous PubMed: Wang 2019 - - Germline yes - - - - DNA SEQ-NG blood panel of 126 genes retinal disease 13863 PubMed: Wang 2019 - M - China - - - - - 1 LOVD
+?/. - c.994A>G r.(?) p.(Ile332Val) Unknown - likely pathogenic g.94373338A>G g.92613581A>G KIF11 c.994A>G, p.(Ile332Val) - KIF11_000162 heterozygous; also affected mother PubMed: Chen 2020 - - Germline yes - - - - DNA SEQ-NG, SEQ blood targeted next-generation sequencing retinal disease 298_II:1 PubMed: Chen 2020 proband, family 298, individual II:1 M - China Chinese - - - - 1 LOVD
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