All variants in the MTMR8 gene

Information The variants shown are described using the NM_017677.3 transcript reference sequence.

37 entries on 1 page. Showing entries 1 - 37.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
?/. 2 c.130G>A r.(?) p.(Ala44Thr) - VUS g.63579302C>T g.64359422C>T A44T - MTMR8_000017 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
?/. - c.133C>T r.(?) p.(Arg45Trp) - VUS g.63579299G>A g.64359419G>A - - MTMR8_000005 - - - - Germline - - - - - Karine Poirier
?/. - c.134G>A r.(?) p.(Arg45Gln) - VUS g.63579298C>T g.64359418C>T MTMR8(NM_017677.3):c.134G>A (p.(Arg45Gln)) - MTMR8_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.141A>G r.(?) p.(Glu47=) - likely benign g.63579291T>C g.64359411T>C MTMR8(NM_017677.3):c.141A>G (p.E47=) - MTMR8_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.185C>T r.(?) p.(Pro62Leu) - likely benign g.63576181G>A g.64356301G>A MTMR8(NM_017677.3):c.185C>T (p.P62L, p.(Pro62Leu)) - MTMR8_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.185C>T r.(?) p.(Pro62Leu) - likely benign g.63576181G>A g.64356301G>A MTMR8(NM_017677.3):c.185C>T (p.P62L, p.(Pro62Leu)) - MTMR8_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 3 c.217C>T r.(?) p.(Arg73Cys) - VUS g.63576149G>A g.64356269G>A R73C - MTMR8_000016 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
?/. - c.468+4A>G r.spl? p.? - VUS g.63574653T>C g.64354773T>C MTMR8(NM_017677.3):c.468+4A>G - MTMR8_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.487C>T r.(?) p.(Pro163Ser) - likely benign g.63569932G>A - MTMR8(NM_017677.3):c.487C>T (p.P163S) - MTMR8_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.532G>A r.(?) p.(Gly178Arg) - VUS g.63569887C>T g.64350007C>T MTMR8(NM_017677.3):c.532G>A (p.G178R) - MTMR8_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.543del r.(?) p.(Lys181AsnfsTer37) - VUS g.63569876del g.64349996del MTMR8(NM_017677.3):c.543delG (p.K181Nfs*37) - MTMR8_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.746C>T r.(?) p.(Ala249Val) - likely benign g.63565044G>A g.64345164G>A MTMR8(NM_017677.3):c.746C>T (p.A249V, p.(Ala249Val)) - MTMR8_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.746C>T r.(?) p.(Ala249Val) - likely benign g.63565044G>A g.64345164G>A MTMR8(NM_017677.3):c.746C>T (p.A249V, p.(Ala249Val)) - MTMR8_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.866-1G>A r.spl? p.? - pathogenic g.63563601C>T g.64343721C>T MTMR8(NM_017677.4):c.866-1G>A - MTMR8_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.874T>A r.(?) p.(Leu292Met) - likely benign g.63563592A>T g.64343712A>T MTMR8(NM_017677.3):c.874T>A (p.L292M, p.(Leu292Met)) - MTMR8_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.874T>A r.(?) p.(Leu292Met) - likely benign g.63563592A>T g.64343712A>T MTMR8(NM_017677.3):c.874T>A (p.L292M, p.(Leu292Met)) - MTMR8_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1082G>A r.(?) p.(Arg361Lys) - VUS g.63557167C>T g.64337287C>T MTMR8(NM_017677.3):c.1082G>A (p.R361K) - MTMR8_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1101+44A>G r.(=) p.(=) - VUS g.63557104T>C g.64337224T>C - - MTMR8_000006 - - - - Germline - - - - - Yu Sun
?/. - c.1101+44A>G r.(=) p.(=) - VUS g.63557104T>C g.64337224T>C - - MTMR8_000006 - - - - Germline - - - - - Yu Sun
?/. - c.1189C>T r.(?) p.(Pro397Ser) - VUS g.63551600G>A - MTMR8(NM_017677.3):c.1189C>T (p.P397S) - MTMR8_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1247C>G r.(?) p.(Ala416Gly) - VUS g.63551542G>C - MTMR8(NM_017677.3):c.1247C>G (p.A416G) - MTMR8_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1402C>T r.(?) p.(Pro468Ser) - likely benign g.63548731G>A g.64328851G>A MTMR8(NM_017677.3):c.1402C>T (p.P468S) - MTMR8_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1430G>T r.(?) p.(Gly477Val) - likely benign g.63548703C>A - MTMR8(NM_017677.3):c.1430G>T (p.G477V) - MTMR8_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1481+132C>T r.(=) p.(=) - VUS g.63548520G>A g.64328640G>A - - MTMR8_000004 - - - - Germline - - - - - Yu Sun
?/. - c.1481+132C>T r.(=) p.(=) - VUS g.63548520G>A g.64328640G>A - - MTMR8_000004 - - - - Germline - - - - - Yu Sun
-?/. - c.1617A>C r.(?) p.(Lys539Asn) - likely benign g.63488915T>G g.64269035T>G MTMR8(NM_017677.3):c.1617A>C (p.(Lys539Asn)) - MTMR8_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 14 c.1693C>T r.(?) p.(Pro565Ser) - VUS g.63488839G>A g.64268959G>A P565S - MTMR8_000015 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
-?/. - c.1734C>A r.(?) p.(Asp578Glu) - likely benign g.63488798G>T g.64268918G>T MTMR8(NM_017677.3):c.1734C>A (p.D578E) - MTMR8_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1814G>T r.(?) p.(Gly605Val) - likely benign g.63488718C>A - MTMR8(NM_017677.3):c.1814G>T (p.G605V) - MTMR8_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1816G>A r.(?) p.(Ala606Thr) - likely benign g.63488716C>T g.64268836C>T MTMR8(NM_017677.3):c.1816G>A (p.(Ala606Thr)) - MTMR8_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1834T>G r.(?) p.(Cys612Gly) - likely benign g.63488698A>C g.64268818A>C MTMR8(NM_017677.3):c.1834T>G (p.C612G) - MTMR8_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1886G>A r.(?) p.(Gly629Asp) - VUS g.63488646C>T g.64268766C>T MTMR8(NM_017677.3):c.1886G>A (p.G629D) - MTMR8_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1970C>A r.(?) p.(Ala657Asp) - likely benign g.63488562G>T g.64268682G>T MTMR8(NM_017677.3):c.1970C>A (p.A657D) - MTMR8_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1980C>A r.(?) p.(Ile660=) - likely benign g.63488552G>T g.64268672G>T MTMR8(NM_017677.3):c.1980C>A (p.I660=) - MTMR8_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.2008_2009del r.(?) p.(Leu670GlyfsTer4) - VUS g.63488523_63488524del g.64268643_64268644del MTMR8(NM_017677.3):c.2008_2009delTT (p.L670Gfs*4) - MTMR8_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2093C>G r.(?) p.(Ala698Gly) - likely benign g.63488439G>C g.64268559G>C MTMR8(NM_017677.3):c.2093C>G (p.A698G) - MTMR8_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.2115A>C r.(?) p.(*705Cysext*31) - VUS g.63488417T>G - MTMR8(NM_017677.3):c.2115A>C (p.*705Cext*31) - MTMR8_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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