Full data view for gene MYO3A

Information The variants shown are described using the NM_017433.4 transcript reference sequence.

47 entries on 1 page. Showing entries 1 - 47.
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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.2090T>G r.(?) p.(Leu697Trp) Unknown - pathogenic g.26414513T>G g.26125584T>G - - MYO3A_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 19 c.2090T>G r.(?) p.(Leu697Trp) Paternal (inferred) ACMG pathogenic (dominant) g.26414513T>G g.26125584T>G - - MYO3A_000024 plus nine affected family members reported (not tested) Journal: Bueno 2021 ClinVar-617675 rs1564573788 Germline ? - - - - DNA SEQ Blood - HL ORO38-Fam4 Journal: Bueno 2021 family, plus nine affected family members reported (not tested) F no Brazil Brazilian admixed >78y - - cochlear implant 1 Karina Lezirovitz Mandelbaum
+/. 19 c.2090T>G r.(?) p.(Leu697Trp) Maternal (inferred) ACMG pathogenic (dominant) g.26414513T>G g.26125584T>G - - MYO3A_000024 plus eight affected family members reported (not tested) Journal: Bueno 2021 ClinVar-617675 rs1564573788 Germline ? - - - - DNA SEQ Blood - HL ORO130-Fam5 Journal: Bueno 2021 family, plus eight affected family members reported (not tested) M no Brazil Brazilian admixed >60y - - - 1 Karina Lezirovitz Mandelbaum
+/. 19 c.2090T>G r.(?) p.(Leu697Trp) Paternal (confirmed) ACMG pathogenic (dominant) g.26414513T>G g.26125584T>G - - MYO3A_000024 seven affected family members tested Journal: Bueno 2021 ClinVar-617675 rs1564573788 Germline yes - - - - DNA SEQ, SEQ-NG-I Blood - HL Fam3-19516 Journal: Bueno 2021 family 3, 7 affected F no Brazil Brazilian admixed >54y - - - 7 Regina Celia Mingroni Netto
+/. 19 c.2090T>G r.(?) p.(Leu697Trp) Unknown ACMG pathogenic (dominant) g.26414513T>G g.26125584T>G - - MYO3A_000024 seven affected family members tested Journal: Bueno 2021 ClinVar-617675 rs1564573788 Germline yes - - - - DNA SEQ Blood - HL Fam3-19516J Journal: Bueno 2021 relative M no Brazil Brazilian admixed >87y - - - 1 Regina Celia Mingroni Netto
+/. 19 c.2090T>G r.(?) p.(Leu697Trp) Paternal (confirmed) ACMG pathogenic (dominant) g.26414513T>G g.26125584T>G - - MYO3A_000024 seven affected family members tested Journal: Bueno 2021 ClinVar-617675 rs1564573788 Germline yes - - - - DNA SEQ Blood - HL Fam3-19516R Journal: Bueno 2021 relative M no Brazil Brazilian admixed >53y - - - 1 Regina Celia Mingroni Netto
+/. 19 c.2090T>G r.(?) p.(Leu697Trp) Paternal (confirmed) ACMG pathogenic (dominant) g.26414513T>G g.26125584T>G - - MYO3A_000024 seven affected family members tested Journal: Bueno 2021 ClinVar-617675 rs1564573788 Germline yes - - - - DNA SEQ Blood - HL Fam3-19516A Journal: Bueno 2021 relative M no Brazil Brazilian admixed >26y - - - 1 Regina Celia Mingroni Netto
+/. 19 c.2090T>G r.(?) p.(Leu697Trp) Paternal (confirmed) ACMG pathogenic (dominant) g.26414513T>G g.26125584T>G - - MYO3A_000024 seven affected family members tested Journal: Bueno 2021 ClinVar-617675 rs1564573788 Germline yes - - - - DNA SEQ Blood - HL Fam3-19516L Journal: Bueno 2021 relative F no Brazil Brazilian admixed >49y - - - 1 Regina Celia Mingroni Netto
+/. 19 c.2090T>G r.(?) p.(Leu697Trp) Paternal (confirmed) ACMG pathogenic (dominant) g.26414513T>G g.26125584T>G - - MYO3A_000024 seven affected family members tested Journal: Bueno 2021 ClinVar-617675 rs1564573788 Germline yes - - - - DNA SEQ Blood - HL Fam3-19516S Journal: Bueno 2021 relative F no Brazil Brazilian admixed >62y - - - 1 Regina Celia Mingroni Netto
+/. 19 c.2090T>G r.(?) p.(Leu697Trp) Paternal (confirmed) ACMG pathogenic (dominant) g.26414513T>G g.26125584T>G - - MYO3A_000024 seven affected family members tested Journal: Bueno 2021 ClinVar-617675 rs1564573788 Germline yes - - - - DNA SEQ Blood - HL Fam3-19516N Journal: Bueno 2021 relative F no Brazil Brazilian admixed >63y - - - 1 Regina Celia Mingroni Netto
+/. 19 c.2090T>G r.(?) p.(Leu697Trp) Maternal (confirmed) ACMG pathogenic (dominant) g.26414513T>G g.26125584T>G - - MYO3A_000024 - PubMed: Dantas 2018 ClinVar-617675 rs1564573788 Germline yes - - - - DNA SEQ, SEQ-NG-I Blood - HL Fam2-16606 PubMed: Dantas 2018 family 2, 10 affected F no Brazil Brazilian admixed >45y - - - 10 Regina Celia Mingroni Netto
+/. 19 c.2090T>G r.(?) p.(Leu697Trp) Maternal (inferred) ACMG pathogenic (dominant) g.26414513T>G g.26125584T>G - - MYO3A_000024 - PubMed: Dantas 2018 ClinVar-617675 rs1564573788 Germline yes - - - - DNA SEQ Blood - HL Fam2-16606L PubMed: Dantas 2018 relative F no Brazil Brazilian admixed >72y - - - 1 Regina Celia Mingroni Netto
+/. 19 c.2090T>G r.(?) p.(Leu697Trp) Maternal (confirmed) ACMG pathogenic (dominant) g.26414513T>G g.26125584T>G - - MYO3A_000024 - PubMed: Dantas 2018 ClinVar-617675 rs1564573788 Germline yes - - - - DNA SEQ Blood - HL Fam2-16606Y PubMed: Dantas 2018 relative M no Brazil Brazilian admixed >48y - - - 1 Regina Celia Mingroni Netto
+/. 19 c.2090T>G r.(?) p.(Leu697Trp) Maternal (confirmed) ACMG pathogenic (dominant) g.26414513T>G g.26125584T>G - - MYO3A_000024 - PubMed: Dantas 2018 ClinVar-617675 rs1564573788 Germline yes - - - - DNA SEQ Blood - HL Fam2-16606R PubMed: Dantas 2018 relative F no Brazil Brazilian admixed >50y - - - 1 Regina Celia Mingroni Netto
+/. 19 c.2090T>G r.(?) p.(Leu697Trp) Maternal (confirmed) ACMG pathogenic (dominant) g.26414513T>G g.26125584T>G - - MYO3A_000024 - PubMed: Dantas 2018 ClinVar-617675 rs1564573788 Germline yes - - - - DNA SEQ, SEQ-NG-I Blood - HL Fam2-16606N PubMed: Dantas 2018 relative M no Brazil Brazilian admixed >53y - - - 1 Regina Celia Mingroni Netto
+/. 19 c.2090T>G r.(?) p.(Leu697Trp) Maternal (confirmed) ACMG pathogenic (dominant) g.26414513T>G g.26125584T>G - - MYO3A_000024 - PubMed: Dantas 2018 ClinVar-617675 rs1564573788 Germline yes - - - - DNA SEQ Blood - HL Fam2-16606K PubMed: Dantas 2018 relative M no Brazil Brazilian admixed >58y - - - 1 Regina Celia Mingroni Netto
+/. 19 c.2090T>G r.(?) p.(Leu697Trp) Maternal (confirmed) ACMG pathogenic (dominant) g.26414513T>G g.26125584T>G - - MYO3A_000024 - PubMed: Dantas 2018 ClinVar-617675 rs1564573788 Germline yes - - - - DNA SEQ Blood - HL Fam2-16606A PubMed: Dantas 2018 relative M no Brazil Brazilian admixed >60y - - - 1 Regina Celia Mingroni Netto
+/. 19 c.2090T>G r.(?) p.(Leu697Trp) Maternal (confirmed) ACMG pathogenic (dominant) g.26414513T>G g.26125584T>G - - MYO3A_000024 - PubMed: Dantas 2018 ClinVar-617675 rs1564573788 Germline yes - - - - DNA SEQ, SEQ-NG-I Blood - HL Fam2-16606V PubMed: Dantas 2018 relative M no Brazil Brazilian admixed >62y - - - 1 Regina Celia Mingroni Netto
+/. 19 c.2090T>G r.(?) p.(Leu697Trp) Paternal (confirmed) ACMG pathogenic (dominant) g.26414513T>G g.26125584T>G - - MYO3A_000024 - PubMed: Dantas 2018 ClinVar-617675 rs1564573788 Germline yes - - - - DNA SEQ, SEQ-NG-I Blood - HL Fam2-16606J PubMed: Dantas 2018 relative F no Brazil Brazilian admixed >31y - - - 1 Regina Celia Mingroni Netto
+/. 19 c.2090T>G r.(?) p.(Leu697Trp) Maternal (confirmed) ACMG pathogenic (dominant) g.26414513T>G g.26125584T>G - - MYO3A_000024 - PubMed: Dantas 2018 ClinVar-617675 rs1564573788 Germline yes - - - - DNA SEQ Blood - HL Fam2-16606G PubMed: Dantas 2018 relative M no Brazil Brazilian admixed >02y - - - 1 Regina Celia Mingroni Netto
+/. 19 c.2090T>G r.(?) p.(Leu697Trp) Paternal (confirmed) ACMG pathogenic (dominant) g.26414513T>G g.26125584T>G - - MYO3A_000024 - PubMed: Dantas 2018 ClinVar-617675 rs1564573788 Germline yes - - - - DNA SEQ, SEQ-NG-I Blood - HL Fam1-18585 PubMed: Dantas 2018 7-generation family, 30 affeccted (13F, 17M) F no Brazil Brazilian admixed >60y - - - 30 Regina Celia Mingroni Netto
+/. 19 c.2090T>G r.(?) p.(Leu697Trp) Maternal (confirmed) ACMG pathogenic (dominant) g.26414513T>G g.26125584T>G - - MYO3A_000024 - PubMed: Dantas 2018 ClinVar-617675 rs1564573788 Germline yes - - - - DNA SEQ Blood - HL Fam1-18585AB PubMed: Dantas 2018 relative M no Brazil Brazilian admixed >62y - - - 1 Regina Celia Mingroni Netto
+/. 19 c.2090T>G r.(?) p.(Leu697Trp) Paternal (confirmed) ACMG pathogenic (dominant) g.26414513T>G g.26125584T>G - - MYO3A_000024 - PubMed: Dantas 2018 ClinVar-617675 rs1564573788 Germline yes - - - - DNA SEQ Blood - HL Fam1-18585AU PubMed: Dantas 2018 relative M no Brazil Brazilian admixed >60y - - - 1 Regina Celia Mingroni Netto
+/. 19 c.2090T>G r.(?) p.(Leu697Trp) Maternal (confirmed) ACMG pathogenic (dominant) g.26414513T>G g.26125584T>G - - MYO3A_000024 - PubMed: Dantas 2018 ClinVar-617675 rs1564573788 Germline yes - - - - DNA SEQ Blood - HL Fam1-18585CT PubMed: Dantas 2018 relative M no Brazil Brazilian admixed >67y - - - 1 Regina Celia Mingroni Netto
+/. 19 c.2090T>G r.(?) p.(Leu697Trp) Maternal (confirmed) ACMG pathogenic (dominant) g.26414513T>G g.26125584T>G - - MYO3A_000024 - PubMed: Dantas 2018 ClinVar-617675 rs1564573788 Germline yes - - - - DNA SEQ, SEQ-NG-I Blood - HL Fam1-18585E PubMed: Dantas 2018 relative F no Brazil Brazilian admixed >60y - - - 1 Regina Celia Mingroni Netto
+/. 19 c.2090T>G r.(?) p.(Leu697Trp) Maternal (confirmed) ACMG pathogenic (dominant) g.26414513T>G g.26125584T>G - - MYO3A_000024 - PubMed: Dantas 2018 ClinVar-617675 rs1564573788 Germline yes - - - - DNA SEQ Blood - HL Fam1-18585FL PubMed: Dantas 2018 relative M yes Brazil Brazilian admixed >86y - - - 1 Regina Celia Mingroni Netto
+/. 19 c.2090T>G r.(?) p.(Leu697Trp) Paternal (confirmed) ACMG pathogenic (dominant) g.26414513T>G g.26125584T>G - - MYO3A_000024 - PubMed: Dantas 2018 ClinVar-617675 rs1564573788 Germline yes - - - - DNA SEQ Blood - HL Fam1-18585JR PubMed: Dantas 2018 relative M no Brazil Brazilian admixed >57y - - - 1 Regina Celia Mingroni Netto
+/. 19 c.2090T>G r.(?) p.(Leu697Trp) Maternal (confirmed) ACMG pathogenic (dominant) g.26414513T>G g.26125584T>G - - MYO3A_000024 - PubMed: Dantas 2018 ClinVar-617675 rs1564573788 Germline yes - - - - DNA SEQ Blood - HL Fam1-18585LA PubMed: Dantas 2018 relative M no Brazil Brazilian admixed >37y - - - 1 Regina Celia Mingroni Netto
+/. 19 c.2090T>G r.(?) p.(Leu697Trp) Maternal (confirmed) ACMG pathogenic (dominant) g.26414513T>G g.26125584T>G - - MYO3A_000024 - PubMed: Dantas 2018 ClinVar-617675 rs1564573788 Germline yes - - - - DNA SEQ Blood - HL Fam1-18585LL PubMed: Dantas 2018 relative F no Brazil Brazilian admixed >44y - - - 1 Regina Celia Mingroni Netto
+/. 19 c.2090T>G r.(?) p.(Leu697Trp) Paternal (confirmed) ACMG pathogenic (dominant) g.26414513T>G g.26125584T>G - - MYO3A_000024 - PubMed: Dantas 2018 ClinVar-617675 rs1564573788 Germline yes - - - - DNA SEQ Blood - HL Fam1-18585MC PubMed: Dantas 2018 relative F no Brazil Brazilian admixed >32y - - - 1 Regina Celia Mingroni Netto
+/. 19 c.2090T>G r.(?) p.(Leu697Trp) Paternal (confirmed) ACMG pathogenic (dominant) g.26414513T>G g.26125584T>G - - MYO3A_000024 - PubMed: Dantas 2018 ClinVar-617675 rs1564573788 Germline yes - - - - DNA SEQ Blood - HL Fam1-18585MD PubMed: Dantas 2018 relative F no Brazil Brazilian admixed >67y - - - 1 Regina Celia Mingroni Netto
+/. 19 c.2090T>G r.(?) p.(Leu697Trp) Paternal (confirmed) ACMG pathogenic (dominant) g.26414513T>G g.26125584T>G - - MYO3A_000024 - PubMed: Dantas 2018 ClinVar-617675 rs1564573788 Germline yes - - - - DNA SEQ Blood - HL Fam1-18585MF PubMed: Dantas 2018 relative F no Brazil Brazilian admixed >59y - - - 1 Regina Celia Mingroni Netto
+/. 19 c.2090T>G r.(?) p.(Leu697Trp) Maternal (confirmed) ACMG pathogenic (dominant) g.26414513T>G g.26125584T>G - - MYO3A_000024 - PubMed: Dantas 2018 ClinVar-617675 rs1564573788 Germline yes - - - - DNA SEQ Blood - HL Fam1-18585MN PubMed: Dantas 2018 relative F no Brazil Brazilian admixed >36y - - - 1 Regina Celia Mingroni Netto
+/. 19 c.2090T>G r.(?) p.(Leu697Trp) Paternal (confirmed) ACMG pathogenic (dominant) g.26414513T>G g.26125584T>G - - MYO3A_000024 - PubMed: Dantas 2018 ClinVar-617675 rs1564573788 Germline yes - - - - DNA SEQ Blood - HL Fam1-18585MZ PubMed: Dantas 2018 relative F no Brazil Brazilian admixed >54y - - - 1 Regina Celia Mingroni Netto
+/. 19 c.2090T>G r.(?) p.(Leu697Trp) Paternal (confirmed) ACMG pathogenic (dominant) g.26414513T>G g.26125584T>G - - MYO3A_000024 - PubMed: Dantas 2018 ClinVar-617675 rs1564573788 Germline yes - - - - DNA SEQ Blood - HL Fam1-18585NN PubMed: Dantas 2018 relative M no Brazil Brazilian admixed >65y - - - 1 Regina Celia Mingroni Netto
+/. 19 c.2090T>G r.(?) p.(Leu697Trp) Paternal (confirmed) ACMG pathogenic (dominant) g.26414513T>G g.26125584T>G - - MYO3A_000024 - PubMed: Dantas 2018 ClinVar-617675 rs1564573788 Germline yes - - - - DNA SEQ Blood - HL Fam1-18585VC PubMed: Dantas 2018 relative M no Brazil Brazilian admixed >30y - - - 1 Regina Celia Mingroni Netto
+/. 19 c.2090T>G r.(?) p.(Leu697Trp) Maternal (confirmed) ACMG pathogenic (dominant) g.26414513T>G g.26125584T>G - - MYO3A_000024 - PubMed: Dantas 2018 ClinVar-617675 rs1564573788 Germline yes - - - - DNA SEQ Blood - HL Fam1-18585AD PubMed: Dantas 2018 relative M no Brazil Brazilian admixed >72y - - - 1 Regina Celia Mingroni Netto
+/. 19 c.2090T>G r.(?) p.(Leu697Trp) Maternal (confirmed) ACMG pathogenic (dominant) g.26414513T>G g.26125584T>G - - MYO3A_000024 - PubMed: Dantas 2018 ClinVar-617675 rs1564573788 Germline yes - - - - DNA SEQ Blood - HL Fam1-18585CA PubMed: Dantas 2018 relative F no Brazil Brazilian admixed >38y - - - 1 Regina Celia Mingroni Netto
+/. 19 c.2090T>G r.(?) p.(Leu697Trp) Paternal (confirmed) ACMG pathogenic (dominant) g.26414513T>G g.26125584T>G - - MYO3A_000024 - PubMed: Dantas 2018 ClinVar-617675 rs1564573788 Germline yes - - - - DNA SEQ Blood - HL Fam1-18585CC PubMed: Dantas 2018 relative F no Brazil Brazilian admixed >47y - - - 1 Regina Celia Mingroni Netto
+/. 19 c.2090T>G r.(?) p.(Leu697Trp) Paternal (confirmed) ACMG pathogenic (dominant) g.26414513T>G g.26125584T>G - - MYO3A_000024 - PubMed: Dantas 2018 ClinVar-617675 rs1564573788 Germline yes - - - - DNA SEQ Blood - HL Fam1-18585CR PubMed: Dantas 2018 relative F no Brazil Brazilian admixed >48y - - - 1 Regina Celia Mingroni Netto
+/. 19 c.2090T>G r.(?) p.(Leu697Trp) Maternal (confirmed) ACMG pathogenic (dominant) g.26414513T>G g.26125584T>G - - MYO3A_000024 - PubMed: Dantas 2018 ClinVar-617675 rs1564573788 Germline yes - - - - DNA SEQ Blood - HL Fam1-18585DN PubMed: Dantas 2018 relative M no Brazil - >60y - - - 1 Regina Celia Mingroni Netto
+/. 19 c.2090T>G r.(?) p.(Leu697Trp) Maternal (confirmed) ACMG pathogenic (dominant) g.26414513T>G g.26125584T>G - - MYO3A_000024 - PubMed: Dantas 2018 ClinVar-617675 rs1564573788 Germline yes - - - - DNA SEQ Blood - HL Fam1-18585RB PubMed: Dantas 2018 relative F no Brazil Brazilian admixed >21y - - - 1 Regina Celia Mingroni Netto
+/. 19 c.2090T>G r.(?) p.(Leu697Trp) Paternal (confirmed) ACMG pathogenic (dominant) g.26414513T>G g.26125584T>G - - MYO3A_000024 - PubMed: Dantas 2018 ClinVar-617675 rs1564573788 Germline yes - - - - DNA SEQ Blood - HL Fam1-18585X PubMed: Dantas 2018 relative F no Brazil - - - - - 1 Regina Celia Mingroni Netto
+/. 19 c.2090T>G r.(?) p.(Leu697Trp) Paternal (confirmed) ACMG pathogenic (dominant) g.26414513T>G g.26125584T>G - - MYO3A_000024 - PubMed: Dantas 2018 ClinVar-617675 rs1564573788 Germline yes - - - - DNA SEQ Blood - HL Fam1-18585P PubMed: Dantas 2018 relative M no Brazil Brazilian admixed >61y - - - 1 Regina Celia Mingroni Netto
+/. 19 c.2090T>G r.(?) p.(Leu697Trp) Maternal (inferred) ACMG pathogenic (dominant) g.26414513T>G g.26125584T>G - - MYO3A_000024 - PubMed: Dantas 2018 ClinVar-617675 rs1564573788 Germline yes - - - - DNA SEQ Blood - HL 18585MA PubMed: Dantas 2018 relative F no Brazil Brazilian admixed 94y - yes - 1 Regina Celia Mingroni Netto
+/. 19 c.2090T>G r.(?) p.(Leu697Trp) Maternal (confirmed) ACMG pathogenic (dominant) g.26414513T>G g.26125584T>G - - MYO3A_000024 - PubMed: Dantas 2018 ClinVar-617675 rs1564573788 Germline yes - - - - DNA SEQ Blood - HL 18585RS PubMed: Dantas 2018 relative M no Brazil Brazilian admixed >34y - - - 1 Regina Celia Mingroni Netto
+/. 19 c.2090T>G r.(?) p.(Leu697Trp) Parent #1 ACMG pathogenic (dominant) g.26414513T>G g.26125584T>G - - MYO3A_000024 - Bueno et al., 2020, submitted ClinVar-617675 rs1564573788 Germline yes - - - - DNA SEQ - - HL - Bueno et al., 2020, submitted family, 9 affected - - Netherlands - - - - - 9 Helger Yntema
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