Full data view for gene CKAP2L

Information The variants shown are described using the NM_152515.3 transcript reference sequence.

37 entries on 1 page. Showing entries 1 - 37.
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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     

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Owner     
+?/. 1 c.2T>C r.(?) p.(Met1?) Both (homozygous) - likely pathogenic (recessive) g.113522174A>G g.112764597A>G - - CKAP2L_000018 - PubMed: Hussain 2014, Journal: Hussain 2014 ClinVar-162385 rs548949031 Germline ? - - - - DNA SEQ - - FLPIS;SDTY1 FP5-1 PubMed: Hussain 2014, Journal: Hussain 2014 - M yes Pakistan pakistani >16y - - - 1 Hasan Bas
-?/. - c.19A>G r.(?) p.(Thr7Ala) Unknown - likely benign g.113522157T>C g.112764580T>C CKAP2L(NM_152515.3):c.19A>G (p.(Thr7Ala)) - CKAP2L_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.31G>A r.(?) p.(Ala11Thr) Unknown - likely benign g.113522145C>T g.112764568C>T CKAP2L(NM_152515.3):c.31G>A (p.(Ala11Thr)) - CKAP2L_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.77A>G r.(?) p.(Lys26Arg) Unknown - likely benign g.113520107T>C g.112762530T>C CKAP2L(NM_152515.3):c.77A>G (p.(Lys26Arg)) - CKAP2L_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 2 c.78_79insTT r.(?) p.(Gly27LeufsTer4) Paternal (inferred) - likely pathogenic (recessive) g.113520105_113520106insAA g.112762528_112762529insAA c.78_79insTT - CKAP2L_000022 - PubMed: Hussain 2014, Journal: Hussain 2014 ClinVar-162386 rs727502803 Germline/De novo (untested) - - - - - DNA SEQ - - FLPIS;SDTY1 FP9-1 PubMed: Hussain 2014, Journal: Hussain 2014 - M no United Kingdom (Great Britain) English >02y10m - - - 1 Hasan Bas
+?/. - c.104+2T>C r.spl? p.? Unknown - likely pathogenic g.113520078A>G - CKAP2L(NM_152515.5):c.104+2T>C - CKAP2L_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 4 c.157_485del r.(?) p.(Thr53TyrfsTer6) Both (homozygous) - likely pathogenic (recessive) g.113514464_113514792del g.112756887_112757215del - - CKAP2L_000020 - PubMed: Hussain 2014, Journal: Hussain 2014 ClinVar-162388 rs1553442237 Germline - - - - - DNA SEQ - - FLPIS;SDTY1 FP8-1 PubMed: Hussain 2014, Journal: Hussain 2014 - F yes United Kingdom (Great Britain) Asian >10y06m - - - 1 Hasan Bas
?/. - c.177T>G r.(?) p.(Asp59Glu) Unknown - VUS g.113514771A>C g.112757194A>C CKAP2L(NM_152515.4):c.177T>G (p.D59E) - CKAP2L_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.185A>G r.(?) p.(Asn62Ser) Unknown - likely benign g.113514763T>C g.112757186T>C CKAP2L(NM_152515.3):c.185A>G (p.(Asn62Ser)) - CKAP2L_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.385T>C r.(?) p.(Ser129Pro) Unknown - likely benign g.113514563A>G - CKAP2L(NM_001304361.1):c.-111T>C (p.(=)) - CKAP2L_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.552_555del r.(?) p.(Asn184Lysfs*8) Both (homozygous) - pathogenic (recessive) g.113514400_113514403del g.112756823_112756826del 552_555delCAAA - CKAP2L_000016 - PubMed: Karakaya 2020, Journal: Karakaya 2020 ClinVar-804387 rs778989224 Germline - - - - - DNA arrayCNV, SEQ-NG blood - FLPIS;SDTY1 proband PubMed: Karakaya 2020, Journal: Karakaya 2020 - F yes Syria Syrian - - - - 1 Hasan Bas
+?/. 4 c.554_555del r.(?) p.(Lys185ArgfsTer11) Both (homozygous) - likely pathogenic (recessive) g.113514394_113514395del g.112756817_112756818del 554_555delAA - CKAP2L_000019 - PubMed: Hussain 2014, Journal: Hussain 2014 ClinVar-162389 rs1361993950 Germline ? - - - - DNA SEQ - - FLPIS;SDTY1 FP7-1 PubMed: Hussain 2014, Journal: Hussain 2014 - M yes Turkey Turkish >01y11m - - - 1 Hasan Bas
+/. 4 c.554_555del r.(?) p.(Lys185ArgfsTer11) Both (homozygous) ACMG pathogenic (recessive) g.113514394_113514395del g.112756817_112756818del - - CKAP2L_000019 - - ClinVar-162389 rs1361993950 Germline/De novo (untested) - - - - - DNA SEQ-NG blood - FLPIS;SDTY1 - - - F yes Turkey Turkish - - - - 1 Hasan Bas
+/. 4 c.571dup r.(?) p.(Ile191Asnfs*6) Both (homozygous) - pathogenic g.113514377dup g.112756800dup - - CKAP2L_000001 - PubMed: Hussain 2014, Journal: Hussain 2014 - - Germline yes - EcoRV- - - DNA SEQ - - FLPIS;SDTY1 FP1-1 PubMed: Hussain 2014, Journal: Hussain 2014 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M no Italy Sardinian - - - - 2 Marianne Vos (LOVD-team)
+/. 4 c.571dup r.(?) p.(Ile191Asnfs*6) Both (homozygous) - pathogenic g.113514377dup g.112756800dup - - CKAP2L_000001 - PubMed: Hussain 2014, Journal: Hussain 2014 - - Germline yes - EcoRV- - - DNA SEQ - - FLPIS;SDTY1 FP1-3 PubMed: Hussain 2014, Journal: Hussain 2014 brother of FP1-1 M no Italy Sardinian - - - - 1 Marianne Vos (LOVD-team)
+/. 4 c.571dup r.(?) p.(Ile191Asnfs*6) Both (homozygous) - pathogenic (recessive) g.113514377dup g.112756800dup 571dupA - CKAP2L_000015 - PubMed: Capecchi 2018, Journal: Capecchi 2018 ClinVar-162384 rs727502802 Germline - - - - - DNA arrayCNV, SEQ blood - FLPIS;SDTY1 Case PubMed: Capecchi 2018, Journal: Capecchi 2018 - M - Italy Sardinian - - - - 1 Hasan Bas
+?/. 4 c.751del r.(?) p.(Ser251AlafsTer6) Maternal (confirmed) - likely pathogenic (recessive) g.113514199del g.112756622del 751delA - CKAP2L_000021 - PubMed: Hussain 2014, Journal: Hussain 2014 ClinVar-162387 rs727502804 Germline - - - - - DNA SEQ - - FLPIS;SDTY1 FP9-1 PubMed: Hussain 2014, Journal: Hussain 2014 - M no United Kingdom (Great Britain) English >02y10m - - - 1 Hasan Bas
-?/. - c.789A>T r.(?) p.(Arg263Ser) Unknown - likely benign g.113514159T>A g.112756582T>A CKAP2L(NM_152515.3):c.789A>T (p.(Arg263Ser)) - CKAP2L_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.922A>G r.(?) p.(Ser308Gly) Unknown - likely benign g.113514026T>C - CKAP2L(NM_152515.3):c.922A>G (p.(Ser308Gly)) - CKAP2L_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 4 c.970dup r.(?) p.(Thr324Asnfs*2) Both (homozygous) - likely pathogenic g.113513978dup g.112756401dup 970dupA - CKAP2L_000014 - PubMed: Sabir 2019, Journal: Sabir 2019 - - Germline - - - - - DNA SEQ-NG-I blood - FLPIS;SDTY1 case PubMed: Sabir 2019, Journal: Sabir 2019 - F yes United Kingdom (Great Britain) Pakistani - - - - 1 Hasan Bas
+/. 4 c.1169_1173del r.(?) p.(Ile390Lysfs*4) Paternal (confirmed) ACMG pathogenic g.113513778_113513782del g.112756201_112756205del - - CKAP2L_000013 - PubMed: Patrick 2021, Journal: Patrick 2021 - rs1361993950 Germline - - - - - DNA SEQ-NG blood - FLPIS;SDTY1 case PubMed: Patrick 2021, Journal: Patrick 2021 - M no United States - - - - - 1 Hasan Bas
+/. 4 c.1169_1173del r.(?) p.(Ile390Lysfs*4) Paternal (inferred) ACMG pathogenic g.113513778_113513782del g.112756201_112756205del - - CKAP2L_000013 - PubMed: Patrick 2021, Journal: Patrick 2021 - rs1361993950 Germline yes - - - - DNA SEQ-NG blood - FLPIS;SDTY1 Case two PubMed: Patrick 2021, Journal: Patrick 2021 - M no United States - - - - - 1 Hasan Bas
-?/. - c.1186A>G r.(?) p.(Ile396Val) Unknown - likely benign g.113513762T>C - CKAP2L(NM_152515.3):c.1186A>G (p.(Ile396Val)) - CKAP2L_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1246_1247del r.(?) p.(Gln416Aspfs*26) Unknown - VUS g.113513703_113513704del - CKAP2L(NM_152515.3):c.1246_1247delCA (p.(Gln416fs)) - CKAP2L_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1284G>C r.(?) p.(Gln428His) Unknown - VUS g.113513664C>G - CKAP2L(NM_152515.3):c.1284G>C (p.(Gln428His)) - CKAP2L_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1304C>G r.(?) p.(Thr435Arg) Both (homozygous) - VUS g.113513644G>C - - - CKAP2L_000026 homozygous in unaffected brother PubMed: Sheffer 2015 - - Germline no - - - - DNA, RNA SEQ-NG blood WES encephalopathy, neonatal, severe family PubMed: Sheffer 2015 4-generation family, 2 affected brothers, unaffected heterozygous carrier parents/relatives M yes Israel Arab;Moslem - - - - 2 Frederike Leonie Harms
?/. - c.1372_1374del r.(?) p.(Lys458del) Unknown - VUS g.113513577_113513579del g.112756000_112756002del CKAP2L(NM_152515.3):c.1372_1374del (p.(Lys458del)) - CKAP2L_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1395-2A>C r.spl? p.? Unknown - VUS g.113510053T>G - CKAP2L(NM_001304361.1):c.900-2A>C (p.?) - CKAP2L_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1555A>G r.(?) p.(Ser519Gly) Unknown - benign g.113509891T>C - CKAP2L(NM_001304361.1):c.1060A>G (p.(Ser354Gly)) - CKAP2L_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1759-2A>G r.spl p.? Both (homozygous) ACMG pathogenic (recessive) g.113500348T>C g.112742771T>C - - CKAP2L_000017 - PubMed: Yang 2022, Journal: Yang 2022 - - Germline - - - - - DNA SEQ-NG - Trio exome sequencing FLPIS;SDTY1 case PubMed: Yang 2022, Journal: Yang 2022 - M no Canada English >17y - - - 1 Hasan Bas
+?/. - c.1765C>T r.(?) p.(Gln589*) Unknown - likely pathogenic g.113500340G>A - - - CKAP2L_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1949G>A r.(?) p.(Arg650Gln) Unknown - likely benign g.113498458C>T - CKAP2L(NM_152515.3):c.1949G>A (p.(Arg650Gln)) - CKAP2L_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 9 c.2066G>A r.(?) p.(Arg689His) Maternal (confirmed) ACMG VUS g.113496572C>T g.112738995C>T - - CKAP2L_000012 - PubMed: Patrick 2021, Journal: Patrick 2021 - - Germline - - - - - DNA SEQ-NG blood - FLPIS;SDTY1 case PubMed: Patrick 2021, Journal: Patrick 2021 - M no United States - - - - - 1 Hasan Bas
?/. 9 c.2066G>A r.(?) p.(Arg689His) Maternal (confirmed) ACMG VUS g.113496572C>T g.112738995C>T - - CKAP2L_000012 - PubMed: Patrick 2021, Journal: Patrick 2021 - - Germline yes - - - - DNA SEQ-NG blood - FLPIS;SDTY1 Case two PubMed: Patrick 2021, Journal: Patrick 2021 - M no United States - - - - - 1 Hasan Bas
-?/. - c.2084G>A r.(?) p.(Arg695Gln) Unknown - likely benign g.113496554C>T g.112738977C>T CKAP2L(NM_001304361.1):c.1589G>A (p.(Arg530Gln)) - CKAP2L_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2185C>T r.(?) p.(Arg729Cys) Unknown - likely benign g.113496453G>A g.112738876G>A CKAP2L(NM_001304361.1):c.1690C>T (p.(Arg564Cys)) - CKAP2L_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2237A>C r.(?) p.(*746Serext*15) Unknown - VUS g.113496401T>G - - - CKAP2L_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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