Full data view for gene MYOF

Information The variants shown are described using the NM_013451.3 transcript reference sequence.

50 entries on 1 page. Showing entries 1 - 50.
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DNA change (genomic) (hg19)     

DNA change (hg38)     

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Reference     

ClinVar ID     

dbSNP ID     

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Methylation     

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?/. - c.236+3830T>C r.(=) p.(=) Unknown - VUS g.95207977A>G g.93448220A>G - - MYOF_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
-?/. - c.346-18C>T r.(=) p.(=) Unknown - likely benign g.95185933G>A - MYOF(NM_013451.4):c.346-18C>T - MYOF_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.433+11C>T r.(=) p.(=) Unknown - likely benign g.95185817G>A - MYOF(NM_013451.4):c.433+11C>T - MYOF_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.607G>A r.(?) p.(Val203Ile) Unknown - VUS g.95168666C>T - MYOF(NM_013451.4):c.607G>A (p.V203I) - MYOF_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.625C>T r.(?) p.(Arg209*) Unknown - VUS g.95168648G>A - MYOF(NM_013451.4):c.625C>T (p.R209*) - MYOF_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 7 c.651G>T r.(?) p.(Arg217Ser) Maternal (confirmed) - pathogenic g.95168622C>A g.93408865C>A - - MYOF_000038 Distribution of variant within family member suggests an autosomal dominant mechanism with incomplete penetrance. MYOF participates in signaling and prevents ubiquitination and degradation of VEGFR-2. Increased expression of VEGFR2 at the endothelial cell membrane could cause increased VEGF-mediated intracellular signaling that may lead to vascular leakage. In addition, MYOF loss has been shown to affect the VEGFR-2 release in response to VEGF and, in MYOF-deficient mice, VEGFR-2 levels and VEGF-induced permeability were impaired. Affected carriers displayed higher plasma ANGPT1 levels. Ascribed by ClinVar and OMIM to angioedema, hereditary 7, HAE7. PubMed: Ariano 2020, Journal: Ariano 2020 ClinVar-SCV001712267 rs1256778304 Germline yes 0.000007 - - - DNA SEQ-NG - - HAE7 family PubMed: Ariano 2020, Journal: Ariano 2020 2-generation family in which a mother and her 2 daughters had HAE with normal C1INH F no Italy - - - - - 3 Christian Drouet
?/. - c.838T>C r.(?) p.(Phe280Leu) Unknown - VUS g.95163785A>G - MYOF(NM_013451.4):c.838T>C (p.F280L) - MYOF_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 12 c.1097G>T r.(?) p.(Arg366Leu) Unknown - VUS g.95161195C>A g.93401438C>A - - MYOF_000049 - PubMed: Gao 2025, Journal: Gao 2025 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - - HAE7 Pat4 PubMed: Gao 2025, Journal: Gao 2025 A single Chinese family M no China - - - - - 1 Christian Drouet
-?/. - c.1335-20T>C r.(=) p.(=) Unknown - likely benign g.95156001A>G - MYOF(NM_013451.4):c.1335-20T>C - MYOF_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1339C>T r.(?) p.(Arg447Cys) Unknown - likely benign g.95155977G>A - MYOF(NM_013451.4):c.1339C>T (p.R447C) - MYOF_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1417+3A>C r.spl? p.? Unknown - likely benign g.95155896T>G g.93396139T>G MYOF(NM_013451.3):c.1417+3A>C (p.?) - MYOF_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1967C>T r.(?) p.(Ala656Val) Unknown - likely benign g.95139654G>A g.93379897G>A MYOF(NM_013451.3):c.1967C>T (p.(Ala656Val)) - MYOF_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2029G>A r.(?) p.(Gly677Arg) Unknown - VUS g.95137159C>T g.93377402C>T MYOF(NM_013451.4):c.2029G>A (p.G677R) - MYOF_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2177G>A r.(?) p.(Arg726Gln) Unknown - likely benign g.95134644C>T - MYOF(NM_013451.4):c.2177G>A (p.R726Q) - MYOF_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 23 c.2225C>T r.(?) p.(Ser742Leu) Maternal (confirmed) - VUS g.95134596G>A g.93374839G>A - - MYOF_000045 asymptomatic mother also carries c.3508C>T variant PubMed: Fomina 2025, Journal: Fomina 2025 - - Germline - - - - - DNA SEQ-NG - - HAE7 - PubMed: Fomina 2025, Journal: Fomina 2025 2-generation Russian family with a male proband M no Russia - - - - - 1 Christian Drouet
-?/. - c.2232C>T r.(?) p.(=) Unknown - likely benign g.95134589G>A - MYOF(NM_013451.4):c.2232C>T (p.A744=) - MYOF_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2377G>A r.(?) p.(Ala793Thr) Unknown - VUS g.95132767C>T - MYOF(NM_013451.4):c.2377G>A (p.A793T) - MYOF_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2614G>C r.(?) p.(Gly872Arg) Unknown - VUS g.95126288C>G g.93366531C>G - - MYOF_000011 - PubMed: Kiselev 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - MD Pat PubMed: Kiselev 2019 - F - Sweden - - - - - 1 Johan den Dunnen
+/. - c.2614_2615delinsC r.(?) p.(Gly872Glnfs*8) Unknown ACMG pathogenic (dominant) g.95126287_95126288delinsG g.93366530_93366531delinsG NM_133337.2:[2576delG; 2575G>C] (G859QfsTer8) - MYOF_000009 ACMG PS3, PM2, PM4 PubMed: Kiselev 2019 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - MD Pat PubMed: Kiselev 2019 - F - Sweden - - - - - 1 Johan den Dunnen
?/. - c.2615del r.(?) p.(Gly872Glufs*8) Unknown - VUS g.95126288del g.93366531del - - MYOF_000010 - PubMed: Kiselev 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - MD Pat PubMed: Kiselev 2019 - F - Sweden - - - - - 1 Johan den Dunnen
-?/. - c.2783C>T r.(?) p.(Thr928Met) Unknown - likely benign g.95123803G>A - MYOF(NM_013451.4):c.2783C>T (p.T928M) - MYOF_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2868G>A r.(?) p.(Ala956=) Unknown - likely benign g.95123718C>T - MYOF(NM_013451.4):c.2868G>A (p.A956=) - MYOF_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2868G>A r.(?) p.(Ala956=) Unknown - likely benign g.95123718C>T - MYOF(NM_013451.4):c.2868G>A (p.A956=) - MYOF_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2906G>C r.(?) p.(Cys969Ser) Unknown - likely pathogenic (dominant) g.95121277C>G - - - MYOF_000013 - - - - De novo - - - - - DNA SEQ-NG-I - - KTCN KC003_1 - - - - - - - - - - 1 Tawfiq Froukh
-?/. - c.3214C>T r.(?) p.(Arg1072Cys) Unknown - likely benign g.95116512G>A - MYOF(NM_013451.4):c.3214C>T (p.(Arg1072Cys), p.R1072C) - MYOF_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3214C>T r.(?) p.(Arg1072Cys) Unknown - VUS g.95116512G>A - MYOF(NM_013451.4):c.3214C>T (p.(Arg1072Cys), p.R1072C) - MYOF_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3463G>A r.(?) p.(Asp1155Asn) Unknown - VUS g.95113586C>T - MYOF(NM_013451.3):c.3463G>A (p.(Asp1155Asn)) - MYOF_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3495T>C r.(?) p.(His1165=) Unknown - likely benign g.95111590A>G - MYOF(NM_013451.4):c.3495T>C (p.H1165=) - MYOF_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 33 c.3508C>T r.(?) p.(His1170Tyr) Unknown - VUS g.95111577G>A g.93351820G>A - - MYOF_000044 brother's patient carries c.3508C>T without any clinical manifestation PubMed: Fomina 2025, Journal: Fomina 2025 - - De novo - - - - - DNA SEQ-NG - - HAE7 - PubMed: Fomina 2025, Journal: Fomina 2025 2-generation family, 1 affected, unaffected non-carrier parents F no Russia - - - - - 1 Christian Drouet
-?/. - c.3544C>T r.(?) p.(=) Unknown - likely benign g.95111541G>A - MYOF(NM_013451.4):c.3544C>T (p.L1182=) - MYOF_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3578A>G r.(?) p.(Asp1193Gly) Unknown - VUS g.95111507T>C - MYOF(NM_013451.4):c.3578A>G (p.D1193G) - MYOF_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.3822+7T>C r.(=) p.(=) Unknown - benign g.95111163A>G - MYOF(NM_013451.4):c.3822+7T>C - MYOF_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3851C>A r.(?) p.(Pro1284His) Unknown - VUS g.95111024G>T g.93351267G>T MYOF(NM_013451.4):c.3851C>A (p.P1284H) - MYOF_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3922-10G>A r.(=) p.(=) Unknown - likely benign g.95109736C>T - MYOF(NM_013451.4):c.3922-10G>A - MYOF_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 36 c.3965C>G r.(?) p.(Ala1322Gly) Maternal (confirmed) - VUS g.95109683G>C g.93349926G>C - - MYOF_000048 Patient's mother harbored the same variant but was asymptomatic, suggesting incomplete penetrance. PubMed: Gao 2025, Journal: Gao 2025 - - Germline no - - - - DNA SEQ-NG - - HAE7 Pat3 PubMed: Gao 2025, Journal: Gao 2025 A single individual in a Chinese family without family history of HAE-nC1INH F - China - - - - - 1 Christian Drouet
-?/. - c.4015G>A r.(?) p.(Glu1339Lys) Unknown - likely benign g.95109633C>T - MYOF(NM_013451.4):c.4015G>A (p.E1339K) - MYOF_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4438-15G>A r.(=) p.(=) Unknown - likely benign g.95095818C>T - MYOF(NM_013451.4):c.4438-15G>A - MYOF_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.4603G>A r.(?) p.(Val1535Met) Unknown - benign g.95093631C>T g.93333874C>T MYOF(NM_013451.4):c.4603G>A (p.V1535M) - MYOF_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.4603G>A r.(?) p.(Val1535Met) Unknown - benign g.95093631C>T - MYOF(NM_013451.4):c.4603G>A (p.V1535M) - MYOF_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.5040C>T r.(?) p.(Val1680=) Unknown - likely benign g.95088611G>A - MYOF(NM_013451.4):c.5040C>T (p.V1680=) - MYOF_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.5540G>T r.(?) p.(Arg1847Leu) Unknown - VUS g.95079687C>A - - - MYOF_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.5582_5583dup r.(?) p.(Ile1862ValfsTer23) Unknown - VUS g.95079645_95079646dup - MYOF(NM_013451.4):c.5582_5583dupGT (p.I1862Vfs*23) - MYOF_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.5591C>T r.(?) p.(Ala1864Val) Unknown - likely benign g.95079636G>A - MYOF(NM_013451.4):c.5591C>T (p.A1864V) - MYOF_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.5591C>T r.(?) p.(Ala1864Val) Unknown - likely benign g.95079636G>A - MYOF(NM_013451.4):c.5591C>T (p.A1864V) - MYOF_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.5697G>C r.(?) p.(Leu1899Phe) Unknown - likely benign g.95076472C>G - MYOF(NM_013451.4):c.5697G>C (p.L1899F) - MYOF_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.5824G>A r.(?) p.(Glu1942Lys) Unknown - VUS g.95072842C>T - MYOF(NM_013451.4):c.5824G>A (p.E1942K) - MYOF_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.5848T>A r.(?) p.(Trp1950Arg) Unknown - likely benign g.95072818A>T - MYOF(NM_013451.4):c.5848T>A (p.W1950R) - MYOF_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.5879G>A r.(?) p.(Arg1960His) Unknown - likely benign g.95072787C>T - MYOF(NM_013451.4):c.5879G>A (p.R1960H) - MYOF_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 52 c.5923G>A r.(?) p.(Glu1975Lys) Unknown - VUS g.95070367C>T g.93310610C>T - - MYOF_000046 Sporadic case PubMed: Gao 2025, Journal: Gao 2025 ClinVar-SCV006036323.1 - Germline/De novo (untested) - - - - - DNA SEQ-NG - - HAE7 Pat1 PubMed: Gao 2025, Journal: Gao 2025 A single Chinese family (Huashan Hospital) F no China - - - - - 1 Christian Drouet
?/. 53 c.6001C>G r.(?) p.(Arg2001Gly) Parent #1 - VUS g.95069923G>C g.93310198G>C - - MYOF_000047 Family history of HAE-nC1INH PubMed: Gao 2025, Journal: Gao - - Germline - - - - - DNA SEQ-NG - - HAE7 Pat2 PubMed: Gao 2025, Journal: Gao 2025 A single Chinese family (Huashan Hospital) F no China - - - - - 1 Christian Drouet
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