Full data view for gene MYO1A

Information The variants shown are described using the NM_005379.3 transcript reference sequence.

51 entries on 1 page. Showing entries 1 - 51.
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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.-20-3C>T r.spl? p.? Unknown - likely benign g.57442130G>A g.57048346G>A MYO1A(NM_001256041.1):c.-20-3C>T - MYO1A_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.91C>T r.(?) p.(Arg31Cys) Unknown - VUS g.57442017G>A g.57048233G>A MYO1A(NM_001256041.1):c.91C>T (p.R31C) - MYO1A_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.172G>A r.(?) p.(Gly58Arg) Unknown - VUS g.57441831C>T g.57048047C>T MYO1A(NM_001256041.1):c.172G>A (p.(Gly58Arg)) - MYO1A_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.277C>T r.(?) p.(Arg93Ter) Unknown - likely benign g.57441459G>A g.57047675G>A MYO1A(NM_001256041.1):c.277C>T (p.R93*), MYO1A(NM_001256041.2):c.277C>T (p.R93*) - MYO1A_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.277C>T r.(?) p.(Arg93Ter) Unknown - likely benign g.57441459G>A g.57047675G>A MYO1A(NM_001256041.1):c.277C>T (p.R93*), MYO1A(NM_001256041.2):c.277C>T (p.R93*) - MYO1A_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.277C>T r.(?) p.(Arg93Ter) Unknown - likely benign g.57441459G>A - MYO1A(NM_001256041.1):c.277C>T (p.R93*), MYO1A(NM_001256041.2):c.277C>T (p.R93*) - MYO1A_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.326-2A>G r.spl? p.? Unknown - VUS g.57441193T>C g.57047409T>C MYO1A(NM_001256041.1):c.326-2A>G (p.?) - MYO1A_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.478-17_478-16del r.(=) p.(=) Unknown - likely benign g.57440735_57440736del g.57046951_57046952del MYO1A(NM_001256041.2):c.478-17_478-16delCT - MYO1A_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 8 c.559C>T r.(?) p.(Arg187Ter) Unknown - VUS g.57440417G>A g.57046633G>A - - MYO1A_000038 - - - rs146269737 Germline - - - - - DNA SEQ-NG - TruSight One panel ? S-1593 PubMed: Ganapathy 2019 - - - India - - - - - 1 Johan den Dunnen
?/. - c.560G>A r.(?) p.(Arg187Gln) Unknown - VUS g.57440416C>T g.57046632C>T MYO1A(NM_001256041.2):c.560G>A (p.R187Q) - MYO1A_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.658C>T r.(?) p.(Arg220Trp) Unknown - VUS g.57437976G>A g.57044192G>A MYO1A(NM_001256041.1):c.658C>T (p.R220W) - MYO1A_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.784C>T r.(?) p.(Arg262Ter) Unknown - VUS g.57437748G>A - MYO1A(NM_001256041.1):c.784C>T (p.R262*) - MYO1A_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.916G>A r.(?) p.(Val306Met) Unknown - likely benign g.57437119C>T g.57043335C>T MYO1A(NM_001256041.2):c.916G>A (p.V306M) - MYO1A_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1010A>G r.(?) p.(Gln337Arg) Unknown - VUS g.57437025T>C g.57043241T>C - - MYO1A_000002 - PubMed: Sommen 2016, Journal: Sommen 2016 - - Germline - - - - - DNA SEQ, SEQ-NG-I - - DFNB;ARNSHL - PubMed: Sommen 2016, Journal: Sommen 2016 - - - - - - - - - 1 Manou Sommen
./. - c.1079G>A r.(?) p.(Arg360Gln) Unknown - likely pathogenic g.57436875C>T g.57043091C>T NM_001256041.1(MYO1A):c.1079G>A p.(Arg360Gln) - MYO1A_000003 variant could not be associated with disease phenotype PubMed: Vogelaar 2017, Journal: Vogelaar 2017 - - Germline - - - - - DNA SEQ-NG - - cancer, gastric Vogelaar-725A PubMed: Vogelaar 2017, Journal: Vogelaar 2017 54 patients from 53 families with genetically unexplained diffuse-type and intestinal-type gastric cancer - - - - - - - - 1 Marjolijn JL Ligtenberg
-?/. - c.1146C>T r.(?) p.(Tyr382=) Unknown - likely benign g.57435234G>A g.57041450G>A MYO1A(NM_001256041.1):c.1146C>T (p.Y382=) - MYO1A_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1164+7del r.(=) p.(=) Unknown - likely benign g.57435209del - MYO1A(NM_001256041.1):c.1164+7delG - MYO1A_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1185T>C r.(?) p.(Phe395=) Unknown - benign g.57435052A>G g.57041268A>G MYO1A(NM_001256041.2):c.1185T>C (p.F395=) - MYO1A_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1243G>C r.(?) p.(Glu415Gln) Unknown - VUS g.57434994C>G g.57041210C>G - - MYO1A_000013 - PubMed: Cox 2019 - - Germline - - - - - DNA SEQ-NG-I - - CLP Fam22 PubMed: Cox 2019 3-generation family, 3 affected (2F, M) F;M - Colombia - - - - - 3 Timothy Cox
-?/. - c.1340G>A r.(?) p.(Arg447Gln) Unknown - likely benign g.57432786C>T - MYO1A(NM_001256041.2):c.1340G>A (p.R447Q) - MYO1A_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1533+17G>A r.(=) p.(=) Unknown - benign g.57432576C>T - MYO1A(NM_001256041.2):c.1533+17G>A - MYO1A_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1760+2T>G r.spl? p.? Unknown - VUS g.57432194A>C - MYO1A(NM_005379.4):c.1760+2T>G - MYO1A_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1985G>A r.(?) p.(Gly662Glu) Unknown - benign g.57431402C>T g.57037618C>T MYO1A(NM_001256041.2):c.1985G>A (p.G662E) - MYO1A_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1985G>A r.(?) p.(Gly662Glu) Parent #1 - likely benign g.57431402C>T g.57037618C>T - - MYO1A_000020 83 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs33962952 Germline - 83/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 83 Mohammed Faruq
?/. - c.2021G>A r.(?) p.(Gly674Asp) Unknown - VUS g.57431366C>T g.57037582C>T MYO1A(NM_001256041.1):c.2021G>A (p.G674D) - MYO1A_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2021G>A r.(?) p.(Gly674Asp) Unknown - pathogenic g.57431366C>T g.57037582C>T - - MYO1A_000019 variants reported seperately, unknown if mono-allelic or bi-allelic PubMed: Retterer 2016 - - Unknown - - - - - DNA SEQ, SEQ-NG - WES ? - PubMed: Retterer 2016 analysis proband (1/3040); possible combination of variants not reported - - United States - - - - - 1 Johan den Dunnen
-?/. - c.2032A>T r.(?) p.(Ile678Phe) Unknown - likely benign g.57431355T>A g.57037571T>A MYO1A(NM_001256041.2):c.2032A>T (p.I678F) - MYO1A_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2032A>T r.(?) p.(Ile678Phe) Parent #1 - likely benign g.57431355T>A g.57037571T>A - - MYO1A_000018 30 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs151269703 Germline - 30/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 30 Mohammed Faruq
+/. - c.2055T>C r.(?) p.(Thr685=) Unknown - pathogenic g.57431332A>G g.57037548A>G MYO1A(NM_001256041.1):c.2055T>C (p.T685=, p.?) - MYO1A_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2055T>C r.(?) p.(Thr685=) Unknown - VUS g.57431332A>G g.57037548A>G MYO1A(NM_001256041.1):c.2055T>C (p.T685=, p.?) - MYO1A_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2055_2055+1inv r.spl? p.? Unknown - pathogenic g.57431331_57431332inv - MYO1A(NM_001256041.1):c.2055_2055+1delTGinsCT - MYO1A_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2055+1G>T r.spl? p.? Unknown - pathogenic g.57431331C>A g.57037547C>A MYO1A(NM_001256041.1):c.2055+1G>T (p.?) - MYO1A_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2055+1G>T r.spl? p.? Unknown - VUS g.57431331C>A g.57037547C>A MYO1A(NM_001256041.1):c.2055+1G>T (p.?) - MYO1A_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2055+20A>C r.(=) p.(=) Unknown - benign g.57431312T>G - MYO1A(NM_001256041.2):c.2055+20A>C - MYO1A_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2064C>A r.(?) p.(Tyr688Ter) Unknown - VUS g.57430867G>T - MYO1A(NM_001256041.1):c.2064C>A (p.Y688*) - MYO1A_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2274+20_2274+21del r.(=) p.(=) Unknown - benign g.57430539_57430540del g.57036755_57036756del MYO1A(NM_001256041.2):c.2274+20_2274+21delAG - MYO1A_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2278C>T r.(?) p.(Arg760Ter) Unknown - VUS g.57430162G>A - MYO1A(NM_001256041.1):c.2278C>T (p.R760*) - MYO1A_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2302C>T r.(?) p.(Arg768Trp) Unknown - likely benign g.57430138G>A g.57036354G>A MYO1A(NM_001256041.1):c.2302C>T (p.R768W) - MYO1A_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2341A>G r.(?) p.(Lys781Glu) Unknown - likely benign g.57430099T>C g.57036315T>C MYO1A(NM_001256041.2):c.2341A>G (p.K781E) - MYO1A_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2390C>T r.(?) p.(Ser797Phe) Unknown - benign g.57424918G>A g.57031134G>A MYO1A(NM_001256041.1):c.2390C>T (p.S797F), MYO1A(NM_001256041.2):c.2390C>T (p.S797F) - MYO1A_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2390C>T r.(?) p.(Ser797Phe) Unknown - benign g.57424918G>A - MYO1A(NM_001256041.1):c.2390C>T (p.S797F), MYO1A(NM_001256041.2):c.2390C>T (p.S797F) - MYO1A_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2724+7G>A r.(=) p.(=) Unknown - likely benign g.57423517C>T - MYO1A(NM_001256041.1):c.2724+7G>A - MYO1A_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2798T>C r.(?) p.(Ile933Thr) Maternal (confirmed) - pathogenic (recessive) g.57423298A>G g.57029514A>G 2804T>C (Ile935Thr) - MYO1A_000041 - PubMed: Talebi 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - - HL patient PubMed: Talebi 2018 2-generation family, 1 affected, unaffected heterozygous parents (first cousin)/relatives M yes Iran - - - - - 1 Johan den Dunnen
-?/. - c.2919C>T r.(?) p.(Ser973=) Unknown - likely benign g.57423002G>A - MYO1A(NM_001256041.2):c.2919C>T (p.S973=) - MYO1A_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2920G>A r.(?) p.Glu974Lys Unknown - VUS g.57423001C>T g.57029217C>T - - MYO1A_000001 - PubMed: Sommen 2016, Journal: Sommen 2016 - - Germline - - - - - DNA SEQ-NG-I - - DFNB;ARNSHL - PubMed: Sommen 2016, Journal: Sommen 2016 - - - - - - - - - 1 Manou Sommen
+?/. - c.2952C>G r.(?) p.(Tyr984*) Unknown - likely pathogenic g.57422969G>C - MYO1A(NM_005379.3):c.2952C>G (p.(Tyr984*)) - MYO1A_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2987C>T r.(?) p.(Thr996Ile) Unknown - benign g.57422934G>A g.57029150G>A MYO1A(NM_001256041.2):c.2987C>T (p.T996I) - MYO1A_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.3026A>C r.(?) p.(Glu1009Ala) Unknown - benign g.57422645T>G - MYO1A(NM_001256041.2):c.3026A>C (p.E1009A) - MYO1A_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3076A>G r.(?) p.(Ser1026Gly) Unknown - likely benign g.57422595T>C g.57028811T>C MYO1A(NM_001256041.2):c.3076A>G (p.S1026G) - MYO1A_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3096A>G r.(?) p.(Lys1032=) Unknown - likely benign g.57422575T>C - MYO1A(NM_001256041.1):c.3096A>G (p.K1032=) - MYO1A_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3128A>T r.(?) p.(Gln1043Leu) Unknown - VUS g.57422543T>A - MYO1A(NM_005379.4):c.3128A>T (p.Q1043L) - MYO1A_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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