Full data view for gene EARS2

Information The variants shown are described using the NM_001083614.1 transcript reference sequence.

30 entries on 1 page. Showing entries 1 - 30.
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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.-5763581_*2005485del r.0? p.0? Unknown - pathogenic g.21530207_29332245del g.21518886_29320924del - - CLN3_000009 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - 1 Johan den Dunnen
+/. - c.2T>A r.(?) p.(Met1?) Unknown - pathogenic g.23568663A>T - EARS2(NM_001083614.2):c.2T>A (p.M1?) - EARS2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.119G>A r.(?) p.(Arg40Gln) Unknown - likely pathogenic g.23568546C>T g.23557225C>T - - EARS2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.164G>A r.(?) p.(Arg55His) Maternal (confirmed) - pathogenic g.23563601C>T g.23552280C>T - - EARS2_000013 - PubMed: Pronicka 2016 - - Germline - 1/113 cases - - - DNA SEQ, SEQ-NG - WES ? Pat7 PubMed: Pronicka 2016 no family history M - Poland - - - - - 1 Johan den Dunnen
+/. - c.164G>A r.(?) p.(Arg55His) Paternal (confirmed) - pathogenic g.23563601C>T g.23552280C>T - - EARS2_000013 - PubMed: Pronicka 2016 - - Germline - 1/113 cases - - - DNA SEQ, SEQ-NG - WES ? Pat70 PubMed: Pronicka 2016 no family history F - Poland - - - - - 1 Johan den Dunnen
+/. - c.193A>G r.(?) p.(Lys65Glu) Both (homozygous) - pathogenic (recessive) g.23563572T>C g.23552251T>C - - EARS2_000016 - PubMed: Taylor 2014 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? Pat16 PubMed: Kemp 2011, PubMed: Taylor 2014 - M - Turkey - 3m - - - 1 Johan den Dunnen
-/. - c.264G>A r.(=) p.(=) Parent #1 - benign g.23563501C>T g.23552180C>T - - EARS2_000001 - - - rs7187920 Germline - - - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
-/. - c.264G>A r.(?) p.(Ala88=) Unknown - benign g.23563501C>T g.23552180C>T EARS2(NM_001083614.2):c.264G>A (p.A88=) - EARS2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.264G>A r.(?) p.(Ala88=) Unknown - benign g.23563501C>T - EARS2(NM_001083614.2):c.264G>A (p.A88=) - EARS2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.322C>T r.(?) p.(Arg108Trp) Unknown - likely pathogenic g.23555998G>A g.23544677G>A - - EARS2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.322C>T r.(?) p.(Arg108Trp) Parent #1 - pathogenic (recessive) g.23555998G>A g.23544677G>A - - EARS2_000008 - PubMed: Taylor 2014 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? Pat17 PubMed: Kemp 2011, PubMed: Taylor 2014 - M - United Kingdom (Great Britain) British 6m - - - 1 Johan den Dunnen
+/. - c.325G>C r.(?) p.(Gly109Arg) Paternal (confirmed) - pathogenic g.23555995C>G g.23544674C>G - - EARS2_000012 - PubMed: Pronicka 2016 - - Germline - 1/113 cases - - - DNA SEQ, SEQ-NG - WES ? Pat7 PubMed: Pronicka 2016 no family history M - Poland - - - - - 1 Johan den Dunnen
-/. - c.606C>G r.(=) p.(=) Parent #1 - benign g.23546561G>C g.23535240G>C - - EARS2_000004 - - - rs2073951 Germline - - - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
-/. - c.606C>G r.(?) p.(Val202=) Unknown - benign g.23546561G>C g.23535240G>C EARS2(NM_001083614.2):c.606C>G (p.V202=) - EARS2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.606C>G r.(?) p.(Val202=) Unknown - benign g.23546561G>C - EARS2(NM_001083614.2):c.606C>G (p.V202=) - EARS2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.814G>A r.(?) p.(Ala272Thr) Parent #2 - pathogenic (recessive) g.23546353C>T g.23535032C>T - - EARS2_000015 - PubMed: Taylor 2014 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? Pat17 PubMed: Kemp 2011, PubMed: Taylor 2014 - M - United Kingdom (Great Britain) British 6m - - - 1 Johan den Dunnen
?/. - c.911C>A r.(?) p.(Pro304His) Unknown - VUS g.23546256G>T - EARS2(NM_001083614.2):c.911C>A (p.P304H) - EARS2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.984G>A r.(=) p.(=) Parent #1 - benign g.23544061C>T g.23532740C>T - - EARS2_000014 17 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs77939239 Germline - 17/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 17 Mohammed Faruq
+?/. - c.1057G>T r.(?) p.(Glu353*) Unknown - likely pathogenic g.23543988C>A - - - EARS2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1068-5C>T r.spl? p.? Parent #1 - benign g.23541223G>A g.23529902G>A - - EARS2_000003 - - - rs2072061 Germline - - - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
-/. - c.1068-5C>T r.spl? p.? Unknown - benign g.23541223G>A g.23529902G>A EARS2(NM_001083614.2):c.1068-5C>T - EARS2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1068-5C>T r.spl? p.? Unknown - benign g.23541223G>A - EARS2(NM_001083614.2):c.1068-5C>T - EARS2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1256C>T r.(?) p.(Pro419Leu) Maternal (confirmed) - pathogenic g.23540919G>A g.23529598G>A - - EARS2_000011 - PubMed: Pronicka 2016 - - Germline - 1/113 cases - - - DNA SEQ, SEQ-NG - WES ? Pat70 PubMed: Pronicka 2016 no family history F - Poland - - - - - 1 Johan den Dunnen
-?/. - c.1352+10C>T r.(=) p.(=) Unknown - likely benign g.23540813G>A - EARS2(NM_001083614.2):c.1352+10C>T - EARS2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1369A>G r.(?) p.(Ser457Gly) Parent #1 - benign g.23536684T>C g.23525363T>C - - EARS2_000002 - - - rs6497671 Germline - - - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
-/. - c.1369A>G r.(?) p.(Ser457Gly) Unknown - benign g.23536684T>C g.23525363T>C EARS2(NM_001083614.2):c.1369A>G (p.S457G) - EARS2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1547G>A r.(?) p.(Arg516Gln) Unknown - likely pathogenic g.23535717C>T - EARS2(NM_001083614.2):c.1547G>A (p.R516Q) - EARS2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1547G>A r.(?) p.(Arg516Gln) Unknown - VUS g.23535717C>T - EARS2(NM_001083614.2):c.1547G>A (p.R516Q) - EARS2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*12T>G r.(=) p.(=) Parent #1 - benign g.23535680A>C g.23524359A>C - - EARS2_000005 - - - rs1468138 Germline - - - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
-/. - c.*12T>G r.(=) p.(=) Unknown - benign g.23535680A>C g.23524359A>C EARS2(NR_003501.2):n.1591T>G - EARS2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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