Full data view for gene CELF2

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

20 entries on 1 page. Showing entries 1 - 20.
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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.-563598_-563597del r.(?) p.(=) Unknown - likely benign g.10643702_10643703del - CELF2(NM_001326317.2):c.-94-80717_-94-80716del - CELF2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-368429G>A r.(?) p.(=) Unknown - VUS g.10838871G>A - CELF2(NM_001326325.2):c.16+5G>A - CELF2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-319276A>G r.(?) p.(=) Unknown - VUS g.10888024A>G - CELF2(NM_001326325.2):c.17-2A>G - CELF2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-319246C>A r.(?) p.(=) Unknown - VUS g.10888054C>A - CELF2(NM_001326325.2):c.45C>A (p.(Cys15*)) - CELF2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-319178A>G r.(?) p.(=) Unknown - VUS g.10888122A>G - - - chr10_006536 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.117C>T r.(?) p.(Tyr39=) Unknown - likely benign g.11207584C>T - CELF2(NM_001326338.2):c.-62C>T - CELF2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.175A>T r.(?) p.(Lys59*) Unknown - likely pathogenic g.11207642A>T - CELF2(NM_001326330.2):c.175A>T (p.K59*) - CELF2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.179-1G>C r.spl p.? Unknown - pathogenic (dominant) g.11259387G>C g.11217424G>C NM_006561.3:c.272-1G>C - CELF2_000009 - PubMed: Itai 2021, Journal: Itai 2021 - - De novo - - - - - DNA SEQ-NG - - ? Pat5 PubMed: Itai 2021, Journal: Itai 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Switzerland Europe - - - - 1 Toshiyuki Itai
?/. - c.649A>C r.(?) p.(Thr217Pro) Unknown - VUS g.11312752A>C - CELF2(NM_006561.3):c.742A>C (p.(Thr248Pro)) - CELF2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.830A>G r.(?) p.(Asn277Ser) Unknown - VUS g.11330462A>G - CELF2(NM_006561.4):c.923A>G (p.N308S) - CELF2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.858del r.(?) p.(Ser286Argfs*23) Unknown - VUS g.11330490del - CELF2(NM_006561.4):c.951delC (p.S317Rfs*23) - CELF2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1171_1186dup r.(?) p.(Gly396AlafsTer45) Unknown - VUS g.11363319_11363334dup - CELF2(NM_001025077.3):c.1225_1240dupCAGCAGAGCGCTGCAG (p.G414Afs*45) - CELF2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1319_1322del r.(?) p.(Lys440ArgfsTer4) Unknown - VUS g.11367916_11367919del g.11325953_11325956del CELF2(NM_006561.3):c.1409_1412del (p.(Lys471ArgfsTer4)) - CELF2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1345+310_1345+311insGTA r.(=) p.(=) Unknown - likely benign g.11368252_11368253insGTA - CELF2(NM_001326342.2):c.1438+310_1438+311insGTA - CELF2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 13 c.1423C>G r.(?) p.(Arg475Gly) Maternal (confirmed) ACMG pathogenic (dominant) g.11370966C>G g.11329003C>G NM_006561.3:c.1516C>G - CELF2_000007 mosaicism in mother (0.03-0.18 different tissues) PubMed: Itai 2021, Journal: Itai 2021 - - Germline - - - - - DNA SEQ-NG-I - - ? Pat3 PubMed: Itai 2021, Journal: Itai 2021 2-generation family, 1 affected, unaffected heterozygous carrier father/mosaic mother F no Japan - - - - - 1 Toshiyuki Itai
+?/. - c.1424G>A r.(?) p.(Arg475His) Unknown - likely pathogenic g.11370967G>A - - - chr10_006537 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1465C>T r.(?) p.(Pro489Ser) Unknown - likely pathogenic g.11371008C>T g.11329045C>T CELF2(NM_001025077.2):c.1519C>T (p.P507S) - CELF2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 13 c.1465C>T r.(?) p.(Pro489Ser) Unknown ACMG pathogenic (dominant) g.11371008C>T g.11329045C>T NM_006561.3:c.1558C>T - CELF2_000006 - PubMed: Itai 2021, Journal: Itai 2021 - - De novo - - - - - DNA SEQ-NG-I - ItaiToshiyuki ? Pat1 PubMed: Itai 2021, Journal: Itai 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents M no China - - - - - 1 Toshiyuki Itai
+/. 13 c.1465C>T r.(?) p.(Pro489Ser) Unknown ACMG pathogenic (dominant) g.11371008C>T g.11329045C>T NM_006561.3:c.1558C>T - CELF2_000006 - PubMed: Itai 2021, Journal: Itai 2021 - - De novo - - - - - DNA SEQ-NG-I - - ? Pat2 PubMed: Itai 2021, Journal: Itai 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Malaysia - - - - - 1 Toshiyuki Itai
+/. 13 c.1469dup r.(?) p.(Tyr490*) Unknown ACMG pathogenic (dominant) g.11371012dup g.11329049dup NM_006561.3:c.1562dupA - CELF2_000008 - PubMed: Itai 2021, Journal: Itai 2021 - - De novo - - - - - DNA SEQ-NG-I - - ? Pat4 PubMed: Itai 2021, Journal: Itai 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Romania - - - - - 1 Toshiyuki Itai
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