Full data view for gene MYH14

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

348 entries on 4 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     
-?/. - c.-3-269C>A r.(=) p.(=) Unknown - likely benign g.50713351C>A - MYH14(NM_001145809.2):c.-3-269C>A - MYH14_000297 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 9 c.? r.(?) p.? Unknown - likely pathogenic g.50735304C>T - c.1067C>T - MYH14_000255 - - - rs151082668 Germline - - - - - DNA SEQ, SEQ-NG peripheral blood - retinal disease XII PubMed: Lerat-2019 - M - France French - - - - 1 LOVD
+/+ 2 c.20C>A r.(?) p.(Ser7*) Parent #1 - pathogenic g.50713642C>A g.50210385C>A - - MYH14_000166 - MORL Deafness Variation Database, PubMed: Donaudy 2004, PubMed: Shearer 1993 - - SUMMARY record - - - - - DNA ? - - ? - PubMed: Donaudy 2004, PubMed: Shearer 1993 - - - - - - - - - 1 Global Variome, with Curator vacancy
-?/-? 2 c.33G>A r.(=) p.(=) Parent #1 - likely benign g.50713655G>A g.50210398G>A - - MYH14_000167 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - - - DNA ? - - - - PubMed: Duzkale 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
-/. - c.33G>C r.(?) p.(Arg11=) Unknown - benign g.50713655G>C g.50210398G>C MYH14(NM_001145809.1):c.33G>C (p.R11=), MYH14(NM_001145809.2):c.33G>C (p.R11=) - MYH14_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.33G>C r.(?) p.(Arg11=) Unknown - benign g.50713655G>C - MYH14(NM_001145809.1):c.33G>C (p.R11=), MYH14(NM_001145809.2):c.33G>C (p.R11=) - MYH14_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.36G>A r.(?) p.(Lys12=) Unknown - likely benign g.50713658G>A g.50210401G>A MYH14(NM_001145809.2):c.36G>A (p.K12=) - MYH14_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.64G>A r.(?) p.(Glu22Lys) Unknown - VUS g.50713686G>A g.50210429G>A - - MYH14_000221 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.73C>T r.(?) p.(Gln25*) Unknown - pathogenic g.50713695C>T g.50210438C>T - - MYH14_000008 - - - - Germline - - - - - DNA SEQ-NG blood - HL - - - - - Korea - - - - - 1 Bong Jik Kim
-/. - c.91C>A r.(?) p.(Pro31Thr) Unknown - benign g.50713713C>A g.50210456C>A MYH14(NM_001145809.2):c.91C>A (p.P31T) - MYH14_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.169_173del r.(?) p.(Trp57AlafsTer132) Unknown - VUS g.50713791_50713795del g.50210534_50210538del MYH14(NM_001145809.1):c.169_173delTGGGT (p.W57Afs*132) - MYH14_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.173_174insAA r.(?) p.(Pro59SerfsTer42) Unknown - VUS g.50713795_50713796insAA g.50210538_50210539insAA MYH14(NM_001145809.1):c.173_174insAA (p.P59Sfs*42) - MYH14_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.192G>T r.(?) p.(Gly64=) Unknown - benign g.50713814G>T g.50210557G>T MYH14(NM_001145809.1):c.192G>T (p.G64=), MYH14(NM_001145809.2):c.192G>T (p.G64=) - MYH14_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.192G>T r.(?) p.(Gly64=) Unknown - benign g.50713814G>T g.50210557G>T MYH14(NM_001145809.1):c.192G>T (p.G64=), MYH14(NM_001145809.2):c.192G>T (p.G64=) - MYH14_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.263G>C r.(?) p.(Arg88Pro) Unknown - VUS g.50713885G>C g.50210628G>C MYH14(NM_001145809.2):c.263G>C (p.R88P) - MYH14_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 2 c.359C>T r.(?) p.(Ser120Leu) Parent #1 - pathogenic g.50713981C>T g.50210724C>T - - MYH14_000168 - MORL Deafness Variation Database, PubMed: Shearer 1993, PubMed: Yang 2005 - - SUMMARY record - - - - - DNA ? - - ? - PubMed: Shearer 1993, PubMed: Yang 2005 - - - - - - - - - 1 Global Variome, with Curator vacancy
+?/. - c.359C>T r.(?) p.(Ser120Leu) Unknown - likely pathogenic g.50713981C>T - - - MYH14_000168 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.371A>G r.(?) p.(Asn124Ser) Unknown - VUS g.50713993A>G - - - MYH14_000274 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.394G>A r.(?) p.(Gly132Ser) Unknown - likely benign g.50714016G>A g.50210759G>A MYH14(NM_001145809.2):c.394G>A (p.G132S) - MYH14_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.394G>A r.(?) p.(Gly132Ser) Unknown - likely benign g.50714016G>A g.50210759G>A MYH14(NM_001145809.2):c.394G>A (p.G132S) - MYH14_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.420T>C r.(?) p.(Leu140=) Unknown - likely benign g.50720886T>C g.50217629T>C MYH14(NM_001145809.2):c.420T>C (p.L140=) - MYH14_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.474T>C r.(?) p.(Ile158=) Unknown - benign g.50720940T>C g.50217683T>C MYH14(NM_001145809.2):c.474T>C (p.I158=) - MYH14_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.483G>A r.(?) p.(Met161Ile) Unknown - likely benign g.50720949G>A g.50217692G>A MYH14(NM_001077186.1):c.483G>A (p.(Met161Ile)), MYH14(NM_001145809.2):c.483G>A (p.M161I) - MYH14_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.483G>A r.(?) p.(Met161Ile) Unknown - likely benign g.50720949G>A g.50217692G>A MYH14(NM_001077186.1):c.483G>A (p.(Met161Ile)), MYH14(NM_001145809.2):c.483G>A (p.M161I) - MYH14_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.483G>A r.(?) p.(Met161Ile) Parent #1 - likely benign g.50720949G>A g.50217692G>A - - MYH14_000013 2 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs34773557 Germline - 2/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 2 Mohammed Faruq
-?/. - c.525C>T r.(?) p.(Tyr175=) Unknown - likely benign g.50720991C>T g.50217734C>T MYH14(NM_001145809.2):c.525C>T (p.Y175=) - MYH14_000154 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.526G>A r.(?) p.(Ala176Thr) Unknown - likely benign g.50720992G>A - MYH14(NM_001145809.1):c.526G>A (p.A176T) - MYH14_000224 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/-? 3 c.534C>T r.(=) p.(=) Parent #1 - likely benign g.50721000C>T g.50217743C>T - - MYH14_000169 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - - - DNA ? - - - - PubMed: Duzkale 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.539G>A r.(?) p.(Gly180Glu) Unknown - VUS g.50721005G>A g.50217748G>A - - MYH14_000004 - PubMed: Sommen 2016, Journal: Sommen 2016 - - Germline - - - - - DNA SEQ, SEQ-NG-I - - DFNB;ARNSHL - PubMed: Sommen 2016, Journal: Sommen 2016 - - - - - - - - - 1 Manou Sommen
?/. - c.539G>A r.(?) p.(Gly180Glu) Unknown - VUS g.50721005G>A g.50217748G>A - - MYH14_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 3 c.541G>A r.(?) p.(Ala181Thr) Parent #1 - pathogenic g.50721007G>A g.50217750G>A - - MYH14_000170 - MORL Deafness Variation Database, PubMed: Qing 2014 - - SUMMARY record - - - - - DNA ? - - HL - PubMed: Qing 2014 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.548G>A r.(?) p.(Arg183Gln) Unknown - VUS g.50721014G>A g.50217757G>A MYH14(NM_001145809.2):c.548G>A (p.R183Q) - MYH14_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.560A>G r.(?) p.(Gln187Arg) Unknown - VUS g.50721026A>G g.50217769A>G - - MYH14_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.563-21C>G r.(=) p.(=) Unknown - benign g.50726319C>G g.50223062C>G MYH14(NM_001145809.2):c.563-21C>G - MYH14_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.565C>T r.(?) p.(Arg189Cys) Parent #1 - VUS g.50726342C>T g.50223085C>T - - MYH14_000220 26 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs200818171 Germline - 26/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 26 Mohammed Faruq
-?/. - c.565C>T r.(?) p.(Arg189Cys) Unknown - likely benign g.50726342C>T - MYH14(NM_001145809.1):c.565C>T (p.R189C) - MYH14_000220 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 4 c.572A>G r.(?) p.(Asp191Gly) Paternal (confirmed) - likely pathogenic g.50726349A>G g.50223092A>G - - MYH14_000007 - - - - Germline - - - - - DNA SEQ-NG blood - HL - - - - - Korea - - - - - 1 Bong Jik Kim
+?/. - c.576G>C r.(?) p.(Gln192His) Unknown - likely pathogenic g.50726353G>C g.50223096G>C - - MYH14_000231 combination of variants not reported PubMed: Topf 2020 - - Germline - 1/1001 cases - - - DNA SEQ, SEQ-NG - WES LGMD - PubMed: Topf 2020 analysis 1001 patients with unexplained limb-girdle weakness - - - - - - - - 1 Johan den Dunnen
-?/-? 4i c.590+13G>A r.(=) p.(=) Parent #1 - likely benign g.50726380G>A g.50223123G>A - - MYH14_000171 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - - - DNA ? - - - - PubMed: Duzkale 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
-/. - c.657G>A r.(?) p.(Ala219=) Unknown - benign g.50726570G>A g.50223313G>A MYH14(NM_001145809.2):c.657G>A (p.A219=) - MYH14_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.657G>A r.(?) p.(Ala219=) Unknown - benign g.50726570G>A g.50223313G>A MYH14(NM_001145809.2):c.657G>A (p.A219=) - MYH14_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.693+12C>T r.(=) p.(=) Unknown - likely benign g.50726618C>T g.50223361C>T MYH14(NM_001145809.2):c.693+12C>T - MYH14_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/-? 5i c.693+12C>T r.(=) p.(=) Parent #1 - likely benign g.50726618C>T g.50223361C>T - - MYH14_000017 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - - - DNA ? - - - - PubMed: Duzkale 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
-/. - c.693+785G>A r.(=) p.(=) Unknown - benign g.50727391G>A g.50224134G>A MYH14(NM_001145809.2):c.694-20G>A - MYH14_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.693+810C>A r.(=) p.(=) Unknown - likely benign g.50727416C>A - MYH14(NM_001145809.2):c.699C>A (p.S233=) - MYH14_000256 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.703G>C r.(?) p.(Glu235Gln) Unknown - VUS g.50728851G>C - - - MYH14_000257 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.707G>A r.(?) p.(Arg236Gln) Unknown - VUS g.50728855G>A g.50225598G>A MYH14(NM_001145809.2):c.731G>A (p.R244Q) - MYH14_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.728C>A r.(?) p.(Pro243His) Unknown - VUS g.50728876C>A g.50225619C>A MYH14(NM_001145809.1):c.752C>A (p.P251H), MYH14(NM_001145809.2):c.752C>A (p.P251H) - MYH14_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.728C>A r.(?) p.(Pro243His) Unknown - VUS g.50728876C>A g.50225619C>A MYH14(NM_001145809.1):c.752C>A (p.P251H), MYH14(NM_001145809.2):c.752C>A (p.P251H) - MYH14_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.759A>G r.(?) p.(Thr253=) Unknown - likely benign g.50728907A>G g.50225650A>G MYH14(NM_001145809.1):c.783A>G (p.T261=) - MYH14_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.769G>A r.(?) p.(Asp257Asn) Unknown - VUS g.50728917G>A g.50225660G>A MYH14(NM_001145809.1):c.793G>A (p.D265N) - MYH14_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/-? 6 c.786C>T r.(=) p.(=) Parent #1 - likely benign g.50728934C>T g.50225677C>T - - MYH14_000172 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - - - DNA ? - - - - PubMed: Duzkale 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
-/. - c.786+21G>A r.(=) p.(=) Unknown - benign g.50728955G>A g.50225698G>A MYH14(NM_001145809.1):c.810+21G>A - MYH14_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.794T>C r.(?) p.(Phe265Ser) Unknown - likely benign g.50730167T>C - MYH14(NM_001145809.1):c.818T>C (p.(Phe273Ser)) - MYH14_000290 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.796A>G r.(?) p.(Ile266Val) Unknown - VUS g.50730169A>G g.50226912A>G MYH14(NM_001145809.1):c.820A>G (p.I274V), MYH14(NM_001145809.2):c.820A>G (p.I274V) - MYH14_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.796A>G r.(?) p.(Ile266Val) Unknown - VUS g.50730169A>G g.50226912A>G MYH14(NM_001145809.1):c.820A>G (p.I274V), MYH14(NM_001145809.2):c.820A>G (p.I274V) - MYH14_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.802A>G r.(?) p.(Ile268Val) Unknown - likely benign g.50730175A>G g.50226918A>G MYH14(NM_001145809.1):c.826A>G (p.I276V) - MYH14_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.814G>A r.(?) p.(Val272Ile) Unknown - likely benign g.50730187G>A g.50226930G>A MYH14(NM_001145809.1):c.838G>A (p.V280I) - MYH14_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.839A>G r.(?) p.(Asn280Ser) Unknown - VUS g.50730212A>G g.50226955A>G MYH14(NM_001145809.1):c.863A>G (p.N288S) - MYH14_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.842T>C r.(?) p.(Ile281Thr) Unknown - likely benign g.50730215T>C g.50226958T>C - - MYH14_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? 8 c.925G>A r.(?) p.(Gly309Arg) Parent #1 - VUS g.50733856G>A g.50230599G>A - - MYH14_000173 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - - - DNA ? - - - - PubMed: Duzkale 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
-?/. - c.949+5G>A r.spl? p.? Unknown - likely benign g.50733885G>A - - - MYH14_000291 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.960C>T r.(?) p.(Leu320=) Unknown - likely benign g.50735197C>T - MYH14(NM_001145809.2):c.984C>T (p.L328=) - MYH14_000265 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.979T>C r.(?) p.(Tyr327His) Unknown - VUS g.50735216T>C - MYH14(NM_001145809.1):c.1003T>C (p.(Tyr335His)) - MYH14_000292 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1043C>T r.(?) p.(Thr348Met) Unknown - VUS g.50735280C>T - MYH14(NM_001145809.1):c.1067C>T (p.(Thr356Met)) - MYH14_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? 9 c.1071C>A r.(?) p.(Phe357Leu) Parent #1 - VUS g.50735308C>A g.50232051C>A - - MYH14_000174 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - - - DNA ? - - - - PubMed: Duzkale 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
-/. - c.1090+13C>T r.(=) p.(=) Unknown - benign g.50735340C>T g.50232083C>T MYH14(NM_001145809.2):c.1114+13C>T - MYH14_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1090+13C>T r.(=) p.(=) Unknown - benign g.50735340C>T g.50232083C>T MYH14(NM_001145809.2):c.1114+13C>T - MYH14_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/-? 9i c.1091-4C>T r.spl? p.? Parent #1 - likely benign g.50747495C>T g.50244238C>T - - MYH14_000175 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - - - DNA ? - - - - PubMed: Duzkale 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
-?/. - c.1091-4C>T r.spl? p.? Unknown - likely benign g.50747495C>T - MYH14(NM_024729.4):c.1091-4C>T - MYH14_000175 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1096C>T r.(?) p.(Leu366=) Unknown - likely benign g.50747504C>T g.50244247C>T MYH14(NM_001145809.1):c.1120C>T (p.L374=) - MYH14_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1101G>T r.(?) p.(Arg367=) Unknown - likely benign g.50747509G>T - MYH14(NM_001145809.1):c.1125G>T (p.R375=) - MYH14_000228 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1125T>C r.(?) p.(Phe375=) Unknown - benign g.50747533T>C g.50244276T>C MYH14(NM_001145809.2):c.1149T>C (p.F383=) - MYH14_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1126G>T r.(?) p.(Gly376Cys) Unknown - likely benign g.50747534G>T g.50244277G>T MYH14(NM_001145809.1):c.1150G>T (p.G384C), MYH14(NM_001145809.2):c.1150G>T (p.G384C) - MYH14_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1126G>T r.(?) p.(Gly376Cys) Unknown - likely benign g.50747534G>T g.50244277G>T MYH14(NM_001145809.1):c.1150G>T (p.G384C), MYH14(NM_001145809.2):c.1150G>T (p.G384C) - MYH14_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1126G>T r.(?) p.(Gly376Cys) Parent #1 - likely benign g.50747534G>T g.50244277G>T - - MYH14_000026 6 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs119103280 Germline - 6/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 6 Mohammed Faruq
-?/. - c.1150C>T r.(?) p.(Arg384Trp) Unknown - likely benign g.50747558C>T - - - MYH14_000275 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1181A>G r.(?) p.(Asn394Ser) Unknown - likely benign g.50747589A>G g.50244332A>G MYH14(NM_001145809.2):c.1205A>G (p.N402S) - MYH14_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1220G>A r.(?) p.(Gly407Glu) Unknown - VUS g.50750294G>A - - - MYH14_000258 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1241C>G r.(?) p.(Ala414Gly) Unknown - VUS g.50750315C>G g.50247058C>G - - MYH14_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? 11 c.1241C>G r.(?) p.(Ala414Gly) Parent #1 - VUS g.50750315C>G g.50247058C>G - - MYH14_000079 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - - - DNA ? - - - - PubMed: Duzkale 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
-?/-? 11 c.1251C>T r.(=) p.(=) Parent #1 - likely benign g.50750325C>T g.50247068C>T - - MYH14_000176 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - - - DNA ? - - - - PubMed: Duzkale 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/? 11 c.1277A>G r.(?) p.(Tyr426Cys) Parent #1 - VUS g.50750351A>G g.50247094A>G - - MYH14_000177 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - - - DNA ? - - - - PubMed: Duzkale 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
+?/. - c.1282C>T r.(?) p.(Gln428*) Unknown - likely pathogenic g.50750356C>T - MYH14(NM_001145809.1):c.1306C>T (p.Q436*) - MYH14_000259 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1289C>G r.(?) p.(Ala430Gly) Unknown - VUS g.50750363C>G g.50247106C>G - - MYH14_000005 - PubMed: Sommen 2016, Journal: Sommen 2016 - - Germline - - - - - DNA SEQ, SEQ-NG-I - - DFNB;ARNSHL - PubMed: Sommen 2016, Journal: Sommen 2016 - - - - - - - - - 1 Manou Sommen
-/. - c.1305+15C>T r.(=) p.(=) Unknown - benign g.50750394C>T g.50247137C>T MYH14(NM_001145809.2):c.1329+15C>T - MYH14_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1305+16G>A r.(=) p.(=) Unknown - benign g.50750395G>A g.50247138G>A MYH14(NM_001145809.2):c.1329+16G>A - MYH14_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 12 c.1314del r.(?) p.(Phe438Leufs*50) Parent #1 - pathogenic g.50752252del g.50248995del - - MYH14_000178 - MORL Deafness Variation Database, PubMed: Yuen 2015 - - SUMMARY record - - - - - DNA ? - - autism - PubMed: Yuen 2015 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.1315G>A r.(?) p.(Ala439Thr) Unknown - VUS g.50752253G>A - MYH14(NM_001145809.2):c.1339G>A (p.A447T) - MYH14_000225 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1344C>T r.(?) p.(Tyr448=) Unknown - likely benign g.50752282C>T g.50249025C>T MYH14(NM_001145809.1):c.1368C>T (p.Y456=) - MYH14_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1349G>A r.(?) p.(Arg450His) Unknown - VUS g.50752287G>A g.50249030G>A - - MYH14_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? 12 c.1358G>A r.(?) p.(Arg453His) Parent #1 - VUS g.50752296G>A g.50249039G>A - - MYH14_000179 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - - - DNA ? - - - - PubMed: Duzkale 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
-?/. - c.1358G>T r.(?) p.(Arg453Leu) Unknown - likely benign g.50752296G>T g.50249039G>T - - MYH14_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1395C>T r.(?) p.(Arg465=) Unknown - likely benign g.50752333C>T g.50249076C>T MYH14(NM_001145809.1):c.1419C>T (p.R473=), MYH14(NM_001145809.2):c.1419C>T (p.R473=) - MYH14_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1395C>T r.(?) p.(Arg465=) Unknown - likely benign g.50752333C>T - MYH14(NM_001145809.1):c.1419C>T (p.R473=), MYH14(NM_001145809.2):c.1419C>T (p.R473=) - MYH14_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1442G>A r.(?) p.(Gly481Asp) Unknown - VUS g.50752380G>A - MYH14(NM_024729.4):c.1442G>A (p.G481D) - MYH14_000277 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1459-10G>A r.(=) p.(=) Unknown - benign g.50752897G>A g.50249640G>A MYH14(NM_001145809.2):c.1483-10G>A - MYH14_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/-? 13 c.1509G>A r.(=) p.(=) Parent #1 - likely benign g.50752957G>A g.50249700G>A - - MYH14_000180 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - - - DNA ? - - - - PubMed: Duzkale 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.1597G>A r.(?) p.(Asp533Asn) Unknown - VUS g.50753045G>A g.50249788G>A MYH14(NM_001145809.1):c.1621G>A (p.D541N) - MYH14_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/-? 13 c.1601T>G r.(?) p.(Leu534Arg) Parent #1 - likely benign g.50753049T>G g.50249792T>G - - MYH14_000181 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - - - DNA ? - - - - PubMed: Duzkale 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
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