Full data view for gene ERBB3

Information The variants shown are described using the NM_001982.3 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.82+15A>G r.(=) p.(=) Unknown - likely benign g.56474181A>G - ERBB3(NM_001982.3):c.82+15A>G - ERBB3_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.217G>A r.(?) p.(Asp73Asn) Unknown - VUS g.56477669G>A g.56083885G>A ERBB3(NM_001982.3):c.217G>A (p.D73N) - ERBB3_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.355G>A r.(?) p.(Val119Ile) Unknown - VUS g.56478899G>A - ERBB3(NM_001982.3):c.355G>A (p.V119I) - ERBB3_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.359T>C r.(?) p.(Met120Thr) Unknown - likely benign g.56478903T>C g.56085119T>C ERBB3(NM_001005915.1):c.359T>C (p.(Met120Thr)) - ERBB3_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.484G>A r.(?) p.(Asp162Asn) Unknown - likely benign g.56480377G>A g.56086593G>A ERBB3(NM_001005915.1):c.*1281G>A (p.(=)) - ERBB3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.813G>T r.(?) p.(Gln271His) Unknown - VUS g.56481885G>T g.56088101G>T ERBB3(NM_001005915.1):c.*2789G>T (p.(=)) - ERBB3_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1253T>C r.(?) p.(Ile418Thr) Unknown - VUS g.56486839T>C g.56093055T>C ERBB3(NM_001982.3):c.1253T>C (p.I418T) - ERBB3_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1253T>C r.(?) p.(Ile418Thr) Parent #1 - VUS g.56486839T>C - - - ERBB3_000007 - PubMed: Kury 2022 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES NDD Fam6Pat6 PubMed: Kury 2022 - F - - - - 0 - - 1 Johan den Dunnen
?/. - c.1358G>A r.(?) p.(Arg453His) Unknown - VUS g.56487212G>A g.56093428G>A - - ERBB3_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1469G>A r.(?) p.(Arg490His) Unknown - likely benign g.56487323G>A g.56093539G>A ERBB3(NM_001982.3):c.1469G>A (p.R490H) - ERBB3_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1482G>A r.(?) p.(Val494=) Unknown - VUS g.56487549G>A g.56093765G>A ERBB3(NM_001982.3):c.1482G>A (p.(=)) - ERBB3_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.2055+4A>G r.spl? p.? Unknown - VUS g.56489594A>G g.56095810A>G ERBB3(NM_001982.3):c.2055+4A>G (p.?) - ERBB3_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.2107A>C r.(?) p.(Ile703Leu) Unknown - likely benign g.56490338A>C g.56096554A>C ERBB3(NM_001982.3):c.2107A>C (p.(Ile703Leu)) - ERBB3_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2925T>G r.(?) p.(Tyr975Ter) Unknown - VUS g.56493517T>G g.56099733T>G ERBB3(NM_001982.3):c.2925T>G (p.Y975*) - ERBB3_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.3129+9A>C r.(=) p.(=) Unknown - benign g.56493822A>C g.56100038A>C ERBB3(NM_001982.3):c.3129+9A>C - ERBB3_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.3289T>C r.(?) p.(Ser1097Pro) Unknown - likely benign g.56494932T>C g.56101148T>C ERBB3(NM_001982.3):c.3289T>C (p.(Ser1097Pro), p.S1097P) - ERBB3_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3289T>C r.(?) p.(Ser1097Pro) Unknown - VUS g.56494932T>C - ERBB3(NM_001982.3):c.3289T>C (p.(Ser1097Pro), p.S1097P) - ERBB3_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.3348G>A r.(?) p.(Arg1116=) Unknown - benign g.56494991G>A g.56101207G>A ERBB3(NM_001982.3):c.3348G>A (p.R1116=) - ERBB3_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.3355A>T r.(?) p.(Ser1119Cys) Unknown - benign g.56494998A>T g.56101214A>T ERBB3(NM_001982.3):c.3355A>T (p.S1119C) - ERBB3_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.3379C>T r.(?) p.(Arg1127Cys) Unknown - VUS g.56495022C>T g.56101238C>T - - ERBB3_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.3449G>A r.(?) p.(Gly1150Glu) Unknown - VUS g.56495092G>A g.56101308G>A ERBB3(NM_001982.3):c.3449G>A (p.G1150E) - ERBB3_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.3449G>C r.(?) p.(Gly1150Ala) Parent #2 - VUS g.56495092G>C - - - ERBB3_000033 - PubMed: Kury 2022 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES NDD Fam6Pat6 PubMed: Kury 2022 - F - - - - 0 - - 1 Johan den Dunnen
?/. - c.3506C>T r.(?) p.(Thr1169Ile) Maternal (confirmed) - VUS g.56495316C>T - - - ERBB3_000032 - PubMed: Joziasse 2011 - - Germline - - - 0 - DNA SEQ - - ASD FamPatIII2 PubMed: Joziasse 2011 3-generation family, 1 affected M - Netherlands - - 0 - - 5 LOVD
?/. - c.3506C>T r.(?) p.(Thr1169Ile) Maternal (confirmed) - VUS g.56495316C>T - - - ERBB3_000032 - PubMed: Joziasse 2011 - - Germline - - - 0 - DNA SEQ - - Healthy/Control FamPatII2/III3 PubMed: Joziasse 2011 mother/sister F - Netherlands - - 0 - - 2 Johan den Dunnen
?/. - c.3529C>A r.(?) p.(Leu1177Ile) Unknown - VUS g.56495339C>A - ERBB3(NM_001982.3):c.3529C>A (p.L1177I) - ERBB3_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3941G>A r.(?) p.(Arg1314His) Unknown - VUS g.56495751G>A g.56101967G>A ERBB3(NM_001982.3):c.3941G>A (p.(Arg1314His)) - ERBB3_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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