Full data view for gene CABP2

Information The variants shown are described using the NM_016366.2 transcript reference sequence.

26 entries on 1 page. Showing entries 1 - 26.
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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.3G>A r.(?) p.(Met1?) Unknown - pathogenic g.67290795C>T - CABP2(NM_001318496.1):c.17G>A (p.W6*) - CABP2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.60C>A r.(?) p.(Leu20=) Unknown - likely benign g.67290170G>T g.67522699G>T CABP2(NM_016366.2):c.60C>A (p.L20=) - CABP2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.61G>C r.(?) p.(Gly21Arg) Unknown - likely benign g.67290169C>G g.67522698C>G CABP2(NM_016366.2):c.61G>C (p.G21R) - CABP2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.124G>A r.(?) p.(Ala42Thr) Unknown - likely benign g.67290106C>T g.67522635C>T CABP2(NM_016366.2):c.124G>A (p.A42T) - CABP2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.188G>A r.(?) p.(Arg63Gln) Unknown - likely benign g.67290042C>T g.67522571C>T CABP2(NM_016366.2):c.188G>A (p.R63Q) - CABP2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.188G>A r.(?) p.(Arg63Gln) Parent #1 - VUS g.67290042C>T g.67522571C>T - - CABP2_000008 conflicting interpretations of pathogenicity; 15 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs149431491 Germline - 15/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 15 Mohammed Faruq
-?/. - c.201C>T r.(?) p.(Ala67=) Unknown - likely benign g.67290029G>A g.67522558G>A CABP2(NM_001318496.1):c.215C>T (p.P72L) - CABP2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.224T>A r.(?) p.(Leu75Gln) Unknown - VUS g.67289443A>T g.67521972A>T CABP2(NM_001318496.1):c.242T>A (p.L81Q) - CABP2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.227G>A r.(?) p.(Arg76Gln) Unknown - VUS g.67289440C>T g.67521969C>T CABP2(NM_001318496.1):c.245G>A (p.R82Q) - CABP2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.281G>A r.(?) p.(Arg94Gln) Unknown - benign g.67288594C>T g.67521123C>T CABP2(NM_016366.3):c.281G>A (p.R94Q) - CABP2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.419T>G r.(?) p.(Met140Arg) Both (homozygous) - VUS g.67287592A>C g.67520121A>C - - CABP2_000018 - - - - Germline - - - - - DNA SEQ-NG - - BBS1, HL - - - M yes Israel Druze - - - - 1 Tamar Ben-Yosef
+/+ 5 c.466G>A r.(?) p.(Asp156Asn) Parent #1 - pathogenic g.67287545C>T g.67520074C>T - - CABP2_000015 - MORL Deafness Variation Database - - SUMMARY record - - - - - DNA ? - - HL - - - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.466G>A r.(?) p.(Glu156Lys) Unknown - VUS g.67287545C>T - - - CABP2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.520G>A r.(?) p.(Val174Met) Unknown - VUS g.67287381C>T - CABP2(NM_001318496.1):c.538G>A (p.V180M) - CABP2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.532C>T r.(?) p.(Arg178Trp) Unknown - VUS g.67287369G>A g.67519898G>A CABP2(NM_016366.2):c.532C>T (p.R178W) - CABP2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.590T>C r.(?) p.(Ile197Thr) Unknown - likely pathogenic g.67287311A>G g.67519840A>G - - CABP2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 6 c.590T>C r.(?) p.(Ile197Thr) Parent #1 - pathogenic g.67287311A>G g.67519840A>G - - CABP2_000010 - MORL Deafness Variation Database - - SUMMARY record - - - - - DNA ? - - HL - - - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. 06i c.637+1G>T r.spl? p.? Unknown - pathogenic g.67287263C>A g.67519792C>A - - CABP2_000002 - PubMed: Baux 2017, Journal: Baux 2017 - rs149712664 Germline/De novo (untested) - - - - - DNA QMPSF, SEQ, SEQ-NG-I - gene panel, Quantitative Multiplex PCR of Short Fluorescent fragments deafness S1511 PubMed: Baux 2017, Journal: Baux 2017 Proband M no France - - - - - 1 David Baux
+/. - c.637+1G>T r.spl? p.? Unknown - pathogenic g.67287263C>A g.67519792C>A CABP2(NM_001318496.1):c.655+1G>T - CABP2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 6i c.637+1G>T r.spl? p.? Parent #1 - pathogenic g.67287263C>A g.67519792C>A - - CABP2_000002 - MORL Deafness Variation Database, PubMed: Schrauwen 2012 - - SUMMARY record - - - - - DNA ? - - ? - PubMed: Schrauwen 2012 - - - - - - - - - 1 Global Variome, with Curator vacancy
+?/. 6i c.637+1G>T r.spl p.? Both (homozygous) - likely pathogenic (recessive) g.67287263C>A g.67519792C>A - - CABP2_000002 - Journal: Kannan-Sundhari 2020 - rs149712664 Germline - - - - - DNA SEQ, SEQ-NG - 180-gene panel HL KF-16 Journal: Kannan-Sundhari 2020 4-generation family, 3 affected sibs (2F, M), unaffected heterozygous carrier parents/relatives F;M yes Iran - - - - - 3 Johan den Dunnen
+/. - c.637+1G>T r.spl? p.? Unknown - pathogenic g.67287263C>A - CABP2(NM_001318496.1):c.655+1G>T - CABP2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.637+1G>T r.spl p.? Both (homozygous) - pathogenic (recessive) g.67287263C>A g.67519792C>A - - CABP2_000002 - PubMed: Richard 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - HL DEM4545 PubMed: Richard 2019 - - yes Pakistan - - - - - 1 Johan den Dunnen
+/. 6i c.637+1_637+2insA r.spl p.? Unknown - pathogenic g.67287262_67287263insT g.67519791_67519792insT 637+1G>GA - CABP2_000001 variant was associated with phenotype PubMed: Sommen 2016, Journal: Sommen 2016 - - Germline - - - - - DNA SEQ, SEQ-NG-I - - DFNB;ARNSHL - PubMed: Sommen 2016, Journal: Sommen 2016 - - - - - - - - - 1 Manou Sommen
+/. - c.646C>T r.(?) p.(Arg216Ter) Unknown - pathogenic g.67286627G>A g.67519156G>A CABP2(NM_001318496.1):c.664C>T (p.R222*) - CABP2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.647G>A r.(?) p.(Arg216Gln) Unknown - VUS g.67286626C>T g.67519155C>T CABP2(NM_001318496.1):c.665G>A (p.R222Q) - CABP2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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