Full data view for gene MYO3A

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

191 entries on 2 pages. Showing entries 1 - 100.
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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     
+/. 2i_35_ c.-17-4668_*573{1} r.? p.? Unknown - VUS g.[NC_000023.10:g.31676156_qter]delins[GGTA;g.26236355_qter] - - - MYO3A_000116 - PubMed: Szucs 2022 - - DUPLICATE record - - - - - DNA FISH, microscope, SEQ, SEQ-NG - WES DMD patient PubMed: Szucs 2022 female patient F - Hungary - - - - - 1 Johan den Dunnen
+/. _1_2i c.-360_-17-4669{1} r.? p.? Unknown - VUS g.pter_26236353delins[NC_000023.10:g.pter_31676155] - - t(X;10)(p21.1;p12.1) MYO3A_000117 - PubMed: Szucs 2022 - - De novo - - - - - DNA FISH, microscope, SEQ, SEQ-NG - WES DMD patient PubMed: Szucs 2022 female patient F - Hungary - - - - - 1 Johan den Dunnen
?/? 3 c.1A>G r.(?) p.(Met1?) Parent #1 - VUS g.26241040A>G g.25952111A>G - - MYO3A_000063 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - - - DNA ? - - - - PubMed: Duzkale 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. - c.76_77delinsTA r.(?) p.(Thr26*) Unknown - pathogenic g.26241115_26241116delinsTA - - - MYO3A_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.115T>C r.(?) p.(Leu39=) Unknown - likely benign g.26241154T>C g.25952225T>C MYO3A(NM_017433.5):c.115T>C (p.L39=) - MYO3A_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.151A>G r.(?) p.(Ile51Val) Unknown - VUS g.26241190A>G g.25952261A>G - - MYO3A_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? 4 c.170A>C r.(?) p.(Asp57Ala) Parent #1 - VUS g.26243804A>C g.25954875A>C - - MYO3A_000064 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - - - DNA ? - - - - PubMed: Duzkale 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
-?/. - c.170A>C r.(?) p.(Asp57Ala) Unknown - likely benign g.26243804A>C - MYO3A(NM_017433.5):c.170A>C (p.(Asp57Ala)) - MYO3A_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.177C>T r.(?) p.(Asp59=) Unknown - likely benign g.26243811C>T g.25954882C>T MYO3A(NM_017433.5):c.177C>T (p.D59=) - MYO3A_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.317G>A r.(?) p.(Gly106Glu) Unknown - VUS g.26285432G>A g.25996503G>A - - MYO3A_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.320C>G r.(?) p.(Ser107Ter) Unknown - pathogenic g.26285435C>G g.25996506C>G - - MYO3A_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.349A>C r.(?) p.(Lys117Gln) Unknown - VUS g.26285464A>C g.25996535A>C - - MYO3A_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.370G>A r.(?) p.(Glu124Lys) Unknown - VUS g.26285485G>A g.25996556G>A - - MYO3A_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.397G>T r.(?) p.(Glu133*) Unknown - likely pathogenic g.26285512G>T - - - MYO3A_000124 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.463A>G r.(?) p.(Asn155Asp) Unknown - VUS g.26286142A>G g.25997213A>G - - MYO3A_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.479C>T r.(?) p.(Thr160Met) Unknown - VUS g.26286158C>T - MYO3A(NM_017433.5):c.479C>T (p.(Thr160Met)) - MYO3A_000121 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.533C>T r.(?) p.(Thr178Ile) Parent #1 - benign g.26305773C>T g.26016844C>T - - MYO3A_000094 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs33968748 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
-?/. - c.533C>T r.(?) p.(Thr178Ile) Unknown - likely benign g.26305773C>T - MYO3A(NM_017433.5):c.533C>T (p.(Thr178Ile)) - MYO3A_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.546G>T r.(?) p.(Arg182=) Unknown - likely benign g.26305786G>T g.26016857G>T MYO3A(NM_017433.5):c.546G>T (p.R182=) - MYO3A_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.556G>A r.(?) p.(Val186Ile) Unknown - VUS g.26305796G>A g.26016867G>A MYO3A(NM_017433.4):c.556G>A (p.(Val186Ile)) - MYO3A_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? 7 c.568T>C r.(?) p.(Phe190Leu) Parent #1 - VUS g.26305808T>C g.26016879T>C - - MYO3A_000065 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - - - DNA ? - - - - PubMed: Duzkale 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/+ 7 c.580C>A r.(?) p.(Pro194Thr) Parent #1 - pathogenic (recessive) g.26305820C>A g.26016891C>A - - MYO3A_000066 - PubMed: Choi 2013 - - Germline yes - - - - DNA SEQ - - HL SB47-91 PubMed: Choi 2013 family, 2 affected - - Korea - - - - - 2 Global Variome, with Curator vacancy
-?/-? 7i c.585+4A>T r.spl? p.? Parent #1 - likely benign g.26305829A>T g.26016900A>T - - MYO3A_000067 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - - - DNA ? - - - - PubMed: Duzkale 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.610G>A r.(?) p.(Asp204Asn) Parent #1 - VUS g.26310456G>A g.26021527G>A - - MYO3A_000095 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs3737274 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
-/. - c.624C>T r.(?) p.(Asp208=) Unknown - benign g.26310470C>T g.26021541C>T - - MYO3A_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? 8 c.656C>T r.(?) p.(Thr219Met) Parent #1 - VUS g.26310502C>T g.26021573C>T - - MYO3A_000068 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - - - DNA ? - - - - PubMed: Duzkale 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
-/. - c.660C>T r.(?) p.(Ala220=) Unknown - benign g.26310506C>T g.26021577C>T - - MYO3A_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 8 c.716T>C r.(?) p.(Leu239Pro) Maternal (confirmed) - likely pathogenic g.26310562T>C g.26021633T>C - - MYO3A_000100 - Doll et al., 2020 PubMed: Doll 2020 - - Germline yes - - - - DNA SEQ-NG-I - - DFNA1 - PubMed: Doll 2020 - - no Germany European - - - - 7 Barbara Vona
?/? 8i c.731+3_731+4insTA r.spl? p.? Parent #1 - VUS g.26310580_26310581insTA g.26021651_26021652insTA - - MYO3A_000069 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - - - DNA ? - - - - PubMed: Duzkale 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.731+4_731+5insTA r.spl? p.? Unknown - VUS g.26310581_26310582insTA g.26021652_26021653insTA MYO3A(NM_001368265.1):c.735_736insTA (p.(Asp246Ter)), MYO3A(NM_017433.5):c.731+3_731+4insAT - MYO3A_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.731+4_731+5insTA r.spl? p.? Unknown - VUS g.26310581_26310582insTA - MYO3A(NM_001368265.1):c.735_736insTA (p.(Asp246Ter)), MYO3A(NM_017433.5):c.731+3_731+4insAT - MYO3A_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.731+20G>A r.(=) p.(=) Unknown - benign g.26310597G>A g.26021668G>A - - MYO3A_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.732-2A>C r.spl? p.? Unknown - likely pathogenic g.26312949A>C g.26024020A>C - - MYO3A_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 8i c.732-2A>G r.spl? p.? Parent #1 - pathogenic g.26312949A>G g.26024020A>G - - MYO3A_000070 - MORL Deafness Variation Database, PubMed: Walsh 2002, PubMed: Xiong 2015 - - SUMMARY record - - - - - DNA ? - - HL - PubMed: Walsh 2002, PubMed: Xiong 2015 - - - - - - - - - 1 Global Variome, with Curator vacancy
-?/. - c.753G>A r.(?) p.(Arg251=) Unknown - likely benign g.26312972G>A g.26024043G>A MYO3A(NM_017433.5):c.753G>A (p.R251=) - MYO3A_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.810A>G r.(?) p.(Lys270=) Unknown - likely benign g.26315318A>G g.26026389A>G MYO3A(NM_017433.5):c.810A>G (p.K270=) - MYO3A_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 10 c.848A>C r.(?) p.(Gln283Pro) Parent #1 - pathogenic g.26315356A>C g.26026427A>C - - MYO3A_000071 - MORL Deafness Variation Database, PubMed: Miyagawa 2013 - - SUMMARY record - - - - - DNA ? - - deafness - PubMed: Miyagawa 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. - c.892C>T r.(?) p.(Gln298Ter) Unknown - pathogenic g.26315400C>T - MYO3A(NM_017433.5):c.892C>T (p.Q298*) - MYO3A_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.892C>T r.(?) p.(Gln298Ter) Unknown - pathogenic g.26315400C>T - MYO3A(NM_017433.5):c.892C>T (p.Q298*) - MYO3A_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 10 c.892C>T r.(?) p.(Gln298*) Both (homozygous) ACMG pathogenic (recessive) g.26315400C>T g.26026471C>T - - MYO3A_000101 - - - - Germline yes - - - - DNA SEQ-NG-I - - DFNB - - - - - Pakistan - - - - - 3 Hina Khan
-?/. - c.906G>A r.(?) p.(Thr302=) Unknown - likely benign g.26315414G>A - MYO3A(NM_017433.5):c.906G>A (p.T302=) - MYO3A_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 10 c.914T>C r.(?) p.(Ile305Thr) Unknown - VUS g.26315422T>C - c.914T>C - MYO3A_000112 - PubMed: Borràs 2013 - - Germline no Novel - - - DNA SEQ-NG, SEQ blood - retinal disease RP-93 PubMed: Borràs 2013 - - - Spain Spanish - - - - 1 LOVD
?/. - c.933G>A r.(?) p.(Met311Ile) Unknown - VUS g.26315441G>A g.26026512G>A MYO3A(NM_017433.5):c.933G>A (p.M311I) - MYO3A_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.956G>A r.(?) p.(Arg319His) Unknown - benign g.26355906G>A g.26066977G>A MYO3A(NM_017433.5):c.956G>A (p.R319H) - MYO3A_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.956G>A r.(?) p.(Arg319His) Unknown - benign g.26355906G>A g.26066977G>A MYO3A(NM_017433.5):c.956G>A (p.R319H) - MYO3A_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 11 c.991C>T r.(?) p.(Arg331*) Unknown - pathogenic g.26355941C>T g.26067012C>T - - MYO3A_000001 - PubMed: Sommen 2016, Journal: Sommen 2016 - - Germline - - - - - DNA SEQ, SEQ-NG-I - - DFNB;ARNSHL - PubMed: Sommen 2016, Journal: Sommen 2016 - - - - - - - - - 1 Manou Sommen
-?/-? 11 c.1038A>G r.(=) p.(=) Parent #1 - likely benign g.26355988A>G g.26067059A>G - - MYO3A_000072 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - - - DNA ? - - - - PubMed: Duzkale 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
-/. - c.1042A>G r.(?) p.(Ile348Val) Unknown - benign g.26355992A>G g.26067063A>G MYO3A(NM_017433.5):c.1042A>G (p.I348V) - MYO3A_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1042A>G r.(?) p.(Ile348Val) Unknown - benign g.26355992A>G g.26067063A>G MYO3A(NM_017433.5):c.1042A>G (p.I348V) - MYO3A_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? 11 c.1052A>C r.(?) p.(Glu351Ala) Parent #1 - VUS g.26356002A>C g.26067073A>C - - MYO3A_000073 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - - - DNA ? - - - - PubMed: Duzkale 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
-/. - c.1053+11C>T r.(=) p.(=) Unknown - benign g.26356014C>T g.26067085C>T MYO3A(NM_017433.5):c.1053+11C>T - MYO3A_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1053+11C>T r.(=) p.(=) Unknown - benign g.26356014C>T g.26067085C>T MYO3A(NM_017433.5):c.1053+11C>T - MYO3A_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/- 11i c.1053+11_1053+12inv r.(=) p.(=) Parent #1 - benign g.26356014_26356015inv g.26067085_26067086inv - - MYO3A_000074 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - - - DNA ? - - - - PubMed: Duzkale 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
-/. - c.1053+12A>G r.(=) p.(=) Unknown - benign g.26356015A>G g.26067086A>G MYO3A(NM_017433.5):c.1053+12A>G - MYO3A_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1053+12A>G r.(=) p.(=) Unknown - benign g.26356015A>G g.26067086A>G MYO3A(NM_017433.5):c.1053+12A>G - MYO3A_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/-? 12 c.1080G>A r.(=) p.(=) Parent #1 - likely benign g.26357723G>A g.26068794G>A - - MYO3A_000075 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - - - DNA ? - - - - PubMed: Duzkale 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
-/. - c.1104C>T r.(?) p.(Tyr368=) Unknown - benign g.26357747C>T g.26068818C>T MYO3A(NM_017433.5):c.1104C>T (p.Y368=) - MYO3A_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1104C>T r.(?) p.(Tyr368=) Unknown - benign g.26357747C>T g.26068818C>T MYO3A(NM_017433.5):c.1104C>T (p.Y368=) - MYO3A_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1105G>A r.(?) p.(Val369Ile) Unknown - benign g.26357748G>A g.26068819G>A MYO3A(NM_017433.5):c.1105G>A (p.V369I) - MYO3A_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1105G>A r.(?) p.(Val369Ile) Unknown - benign g.26357748G>A g.26068819G>A MYO3A(NM_017433.5):c.1105G>A (p.V369I) - MYO3A_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1170+7C>T r.(=) p.(=) Unknown - benign g.26357820C>T g.26068891C>T MYO3A(NM_017433.5):c.1170+7C>T - MYO3A_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1170+7C>T r.(=) p.(=) Unknown - benign g.26357820C>T g.26068891C>T MYO3A(NM_017433.5):c.1170+7C>T - MYO3A_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 13 c.1193C>A r.(?) p.(Ser398*) Unknown - pathogenic g.26359062C>A g.26070133C>A - - MYO3A_000002 - PubMed: Sommen 2016, Journal: Sommen 2016 - - Germline - - - - - DNA SEQ, SEQ-NG-I - - DFNB;ARNSHL - PubMed: Sommen 2016, Journal: Sommen 2016 - - - - - - - - - 1 Manou Sommen
-?/-? 13 c.1275G>A r.(=) p.(=) Parent #1 - likely benign g.26359144G>A g.26070215G>A - - MYO3A_000076 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - - - DNA ? - - - - PubMed: Duzkale 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
-?/. - c.1275G>A r.(?) p.(=) Unknown - likely benign g.26359144G>A - MYO3A(NM_017433.5):c.1275G>A (p.(Gln425=)) - MYO3A_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1426G>A r.(?) p.(Ala476Thr) Unknown - VUS g.26377198G>A g.26088269G>A MYO3A(NM_017433.5):c.1426G>A (p.A476T) - MYO3A_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/-? 15 c.1500G>A r.(=) p.(=) Parent #1 - likely benign g.26377272G>A g.26088343G>A - - MYO3A_000077 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - - - DNA ? - - - - PubMed: Duzkale 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
-?/. - c.1525T>C r.(?) p.(Tyr509His) Unknown - likely benign g.26377297T>C - MYO3A(NM_017433.5):c.1525T>C (p.(Tyr509His)) - MYO3A_000122 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1544G>A r.(?) p.(Arg515Gln) Unknown - VUS g.26377316G>A g.26088387G>A - - MYO3A_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1559C>T r.(?) p.(Ala520Val) Unknown - VUS g.26377331C>T g.26088402C>T MYO3A(NM_017433.5):c.1559C>T (p.A520V) - MYO3A_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/-? 15 c.1559C>T r.(?) p.(Ala520Val) Parent #1 - likely benign g.26377331C>T g.26088402C>T - - MYO3A_000060 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - - - DNA ? - - - - PubMed: Duzkale 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. - c.1588dup r.(?) p.(Tyr530Leufs*9) Parent #2 - pathogenic (recessive) g.26385335dup - 1582_1583insT - MYO3A_000078 - PubMed: Choi 2013 - - Germline yes - - - - DNA SEQ - - HL SB47-91 PubMed: Choi 2013 family, 2 affected - - Korea - - - - - 2 Global Variome, with Curator vacancy
+/. - c.1624del r.(?) p.(Leu542Ter) Unknown - pathogenic g.26385371del - MYO3A(NM_017433.5):c.1624delC (p.L542*) - MYO3A_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/-? 17 c.1725C>G r.(=) p.(=) Parent #1 - likely benign g.26385560C>G g.26096631C>G - - MYO3A_000079 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - - - DNA ? - - - - PubMed: Duzkale 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/+ 17i c.1777-12G>A r.(=) p.(=) Parent #1 - pathogenic g.26409593G>A g.26120664G>A - - MYO3A_000080 - MORL Deafness Variation Database, PubMed: Walsh 2002 - - SUMMARY record - - - - - DNA ? - - HL - PubMed: Walsh 2002 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/+ 18 c.1819G>T r.(?) p.(Val607Phe) Parent #1 - pathogenic g.26409647G>T g.26120718G>T - - MYO3A_000081 - MORL Deafness Variation Database, PubMed: Miyagawa 2013 - - SUMMARY record - - - - - DNA ? - - deafness - PubMed: Miyagawa 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.1828A>G r.(?) p.(Ile610Val) Unknown - VUS g.26409656A>G g.26120727A>G MYO3A(NM_017433.5):c.1828A>G (p.I610V) - MYO3A_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1971T>C r.(?) p.(Thr657=) Unknown - benign g.26414394T>C g.26125465T>C MYO3A(NM_017433.5):c.1971T>C (p.T657=) - MYO3A_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - 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
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