Full data view for gene HOMER2

Information The variants shown are described using the NM_004839.3 transcript reference sequence.

21 entries on 1 page. Showing entries 1 - 21.
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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.46A>T r.(?) p.(Ile16Phe) Unknown - VUS g.83561553T>A g.82892801T>A - - HOMER2_000014 - PubMed: Boucher 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - - Healthy/Control CIC5851 PubMed: Boucher 2020 control - - France - - - - - 1 Johan den Dunnen
?/. - c.134A>G r.(?) p.(Tyr45Cys) Unknown - VUS g.83561465T>C g.82892713T>C HOMER2(NM_199330.2):c.134A>G (p.Y45C) - HOMER2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.134A>G r.(?) p.(Tyr45Cys) Unknown - likely benign g.83561465T>C g.82892713T>C HOMER2(NM_199330.2):c.134A>G (p.Y45C) - HOMER2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.181A>G r.(?) p.(Ile61Val) Unknown - VUS g.83544138T>C g.82875386T>C HOMER2(NM_199330.2):c.181A>G (p.I61V) - HOMER2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.234C>T r.(?) p.(Ala78=) Unknown - likely benign g.83544085G>A g.82875333G>A HOMER2(NM_199330.2):c.234C>T (p.A78=) - HOMER2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.363C>T r.(?) p.(Ile121=) Unknown - likely benign g.83532943G>A g.82864191G>A HOMER2(NM_199330.2):c.363C>T (p.I121=) - HOMER2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.388-24C>T r.(=) p.(=) Unknown - VUS g.83527911G>A g.82859159G>A HOMER2(NM_199330.2):c.397C>T (p.R133C) - HOMER2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.432C>T r.(?) p.(Ala144=) Unknown - likely benign g.83527843G>A - HOMER2(NM_199330.2):c.465C>T (p.A155=) - HOMER2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ - c.554G>C r.(?) p.(Arg185Pro) Parent #1 - pathogenic g.83523493C>G g.82854741C>G - - HOMER2_000008 - MORL Deafness Variation Database, PubMed: Azaiez 2015 - - SUMMARY record - - - - - DNA ? - - HL - PubMed: Azaiez 2015 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. - c.650A>C r.(?) p.(Lys217Thr) Unknown - VUS g.83523397T>G g.82854645T>G NM_199330:c.683A>C - HOMER2_000013 - PubMed: Boucher 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - - Healthy/Control CIC7869 PubMed: Boucher 2020 control - - France - - - - - 1 Johan den Dunnen
-?/. - c.764A>G r.(?) p.(Glu255Gly) Unknown - likely benign g.83519982T>C g.82851230T>C HOMER2(NM_199330.2):c.797A>G (p.E266G) - HOMER2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.764A>G r.(?) p.(Glu255Gly) Parent #1 - benign g.83519982T>C g.82851230T>C - - HOMER2_000001 8 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs79448007 Germline - 8/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 8 Mohammed Faruq
-/. - c.819C>T r.(=) p.(=) Parent #1 - benign g.83519927G>A g.82851175G>A - - HOMER2_000009 19 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs74416301 Germline - 19/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 19 Mohammed Faruq
?/. - c.977T>C r.(?) p.(Ile326Thr) Unknown - VUS g.83518522A>G g.82849770A>G HOMER2(NM_199330.2):c.1010T>C (p.I337T) - HOMER2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1023C>T r.(?) p.(Thr341=) Unknown - likely benign g.83518476G>A - HOMER2(NM_199330.2):c.1056C>T (p.T352=) - HOMER2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 9 c.1031A>G r.(?) p.(*344Trpext*10) Maternal (confirmed) ACMG pathogenic (dominant) g.83518468T>C g.82849716T>C NM_199330.2:c.1064A>G (Ter355TrpextTer10) - HOMER2_000012 Vaché et al., submitted - - - Germline yes - - - - DNA SEQ, SEQ-NG-I - - DFNA SU340 Vaché et al., submitted daughter of SU333 F no France Sicilia - - - - 1 Anne-Françoise Roux
+/. 09 c.1031A>G r.(?) p.(*344Trpext*10) Maternal (confirmed) ACMG pathogenic (dominant) g.83518468T>C g.82849716T>C NM_199330.2:c.1064A>G (Ter355TrpextTer10) - HOMER2_000012 - Vaché et al., submitted - - Germline yes - - - - DNA SEQ, SEQ-NG-I blood gene panel DFNA SU333 Vaché submitted daughter of SU332, mother of SU340 F no France Sicilia - - - - 1 Anne-Françoise Roux
+/. 09 c.1031A>G r.(?) p.(*344Trpext*10) Paternal (inferred) ACMG pathogenic (dominant) g.83518468T>C g.82849716T>C NM_199330.2:c.1064A>G (Ter355TrpextTer10) - HOMER2_000012 - Vaché et al., submitted - - Germline yes - - - - DNA SEQ, SEQ-NG-I blood david_lovd DFNA SU332 Vaché et al., submitted 3-generation family, mother of SU333, sister of SU561 F no France Sicilia - - - - 6 Anne-Françoise Roux
+/. 09 c.1031A>G r.(?) p.(*344Trpext*10) Paternal (inferred) ACMG pathogenic (dominant) g.83518468T>C g.82849716T>C NM_199330.2:c.1064A>G (Ter355TrpextTer10) - HOMER2_000012 - Vaché et al., submitted - - Germline yes - - - - DNA SEQ, SEQ-NG-I blood gene panel DFNA SU561 Vaché et al., submitted brother of SU332 M no France Sicilia - - - - 1 Anne-Françoise Roux
+/. 09 c.1031A>G r.(?) p.(*344Trpext*10) Maternal (confirmed) ACMG pathogenic (dominant) g.83518468T>C g.82849716T>C NM_199330.2:c.1064A>G (Ter355TrpextTer10) - HOMER2_000012 - Vaché et al., submitted - - Germline yes - - - - DNA SEQ, SEQ-NG-I blood gene panel DFNA SU334 Vaché submitted daughter of SU332, mother of SU7517 F no France Sicilia - - - - 1 Anne-Françoise Roux
+/. 09 c.1031A>G r.(?) p.(*344Trpext*10) Maternal (confirmed) ACMG pathogenic (dominant) g.83518468T>C g.82849716T>C NM_199330.2:c.1064A>G (Ter355TrpextTer10) - HOMER2_000012 - Vaché et al., submitted - - Germline yes - - - - DNA SEQ, SEQ-NG-I blood gene panel DFNA SU7517 Vaché submitted daughter of SU334 F no France Sicilia - - - - 1 Anne-Françoise Roux
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