All variants in the MAOA gene

Information The variants shown are described using the NM_000240.3 transcript reference sequence.

40 entries on 1 page. Showing entries 1 - 40.
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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     
./. - c.-1869268_*138111del r.0? p.0? - pathogenic g.41646322_43741871del - - - CASK_000037 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - 0 - Johan den Dunnen
-?/. - c.48A>T r.(?) p.(Val16=) - likely benign g.43515637A>T - MAOA(NM_000240.3):c.48A>T (p.V16=) - MAOA_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.53T>A r.(?) p.(Val18Glu) - likely pathogenic g.43515642T>A g.43656394T>A - - MAOA_000039 - PubMed: Jin 2017 - - Germline - - - 0 - LOVD
?/. - c.109G>A r.(?) p.(Val37Ile) - VUS g.43542796G>A g.43683548G>A MAOA(NM_000240.3):c.109G>A (p.(Val37Ile)) - MAOA_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
+?/. - c.133C>T r.(?) p.(Arg45Trp) - likely pathogenic g.43542820C>T g.43683572C>T - - MAOA_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.168+11_168+15del r.(=) p.(=) - likely benign g.43542866_43542870del g.43683618_43683622del MAOA(NM_001270458.1):c.-232+11_-232+15delTTAAT - MAOA_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.222A>G r.(?) p.(Gln74=) - likely benign g.43552591A>G - MAOA(NM_000240.3):c.222A>G (p.Q74=) - MAOA_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.306+16C>A r.(=) p.(=) - likely benign g.43552691C>A g.43693444C>A MAOA(NM_001270458.2):c.-94+16C>A - MAOA_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-?/. - c.330C>T r.(?) p.(Gly110=) - likely benign g.43571142C>T g.43711895C>T MAOA(NM_000240.3):c.330C>T (p.G110=) - MAOA_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/. - c.347G>A r.(?) p.(Trp116Ter) - pathogenic g.43571159G>A g.43711912G>A - - MAOA_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.385A>C r.(=) p.(=) - likely benign g.43571197A>C g.43711950A>C R129R - MAOA_000002 recurrent, found 10 times PubMed: Tarpey 2009 - - Germline - 10/208 cases - 0 - Lucy Raymond
-?/. - c.396T>C r.(?) p.(Asp132=) - likely benign g.43571208T>C g.43711961T>C MAOA(NM_000240.4):c.396T>C (p.D132=) - MAOA_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
+?/. - c.455G>A r.(?) p.(Trp152Ter) - likely pathogenic g.43571995G>A g.43712748G>A - - MAOA_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-?/. - c.515G>A r.(?) p.(Arg172Gln) - likely benign g.43587431G>A g.43728184G>A MAOA(NM_001270458.1):c.116G>A (p.R39Q) - MAOA_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.516G>A r.(?) p.(Arg172=) - likely benign g.43587432G>A g.43728185G>A MAOA(NM_001270458.1):c.117G>A (p.R39=) - MAOA_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.565G>A r.(?) p.(Val189Met) - VUS g.43587481G>A g.43728234G>A - - MAOA_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.645+8G>A r.(=) p.(=) - likely benign g.43587569G>A g.43728322G>A MAOA(NM_000240.3):c.645+8G>A (p.(=)) - MAOA_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-/. - c.703G>A r.(?) p.(Gly235Arg) - benign g.43590545G>A g.43731298G>A MAOA(NM_001270458.1):c.304G>A (p.G102R) - MAOA_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+?/. - c.730G>A r.(?) p.(Val244Ile) ACMG likely pathogenic g.43590572G>A g.43731325G>A - - MAOA_000004 - - - - Germline yes - - 0 - Bernt Popp
+?/. - c.749_750insT r.(?) p.(Ser251Lysfs*2) - likely pathogenic g.43590591_43590592insT g.43731344_43731345insT - - MAOA_000034 - PubMed: Grozeva 2015, Journal: Grozeva 2015 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
-?/. - c.778A>C r.(?) p.(Asn260His) - likely benign g.43590620A>C g.43731373A>C MAOA(NM_000240.3):c.778A>C (p.(Asn260His)) - MAOA_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.797_798delinsTT r.(?) p.(Cys266Phe) - pathogenic (recessive) g.43590942_43590943delinsTT g.43731695_43731696delinsTT - - MAOA_000033 - PubMed: Redin 2014 - - Germline - - - 0 - Johan den Dunnen
-?/. - c.825G>A r.(?) p.(Pro275=) - likely benign g.43590970G>A g.43731723G>A MAOA(NM_001270458.1):c.426G>A (p.P142=) - MAOA_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/. - c.886C>T r.(?) p.(Gln296Ter) - pathogenic g.43591031C>T g.43731784C>T - - MAOA_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-/. - c.891G>T r.(?) p.(Arg297=) - benign g.43591036G>T g.43731789G>T MAOA(NM_001270458.2):c.492G>T (p.R164=) - MAOA_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-?/. - c.891G>T r.(=) p.(=) - likely benign g.43591036G>T g.43731789G>T R297R - MAOA_000003 recurrent, found 101 times PubMed: Tarpey 2009 - - Germline - 101/208 cases - 0 - Lucy Raymond
-?/. - c.933G>T r.(?) p.(Lys311Asn) - likely benign g.43591078G>T g.43731831G>T MAOA(NM_001270458.1):c.534G>T (p.K178N) - MAOA_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.955+4G>A r.spl? p.? - likely benign g.43591104G>A g.43731857G>A MAOA(NM_001270458.2):c.556+4G>A - MAOA_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.1107-16dup r.(=) p.(=) - likely benign g.43599912dup g.43740665dup MAOA(NM_001270458.2):c.708-16_708-15insT - MAOA_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-?/. - c.1107-4A>T r.spl? p.? - likely benign g.43599924A>T g.43740677A>T MAOA(NM_000240.3):c.1107-4A>T (p.?) - MAOA_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.1180G>C r.(?) p.(Glu394Gln) - VUS g.43601212G>C g.43741965G>C - - MAOA_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.1262+7C>T r.(=) p.(=) - likely benign g.43601301C>T g.43742054C>T MAOA(NM_001270458.1):c.863+7C>T - MAOA_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.1263-16C>G r.(=) p.(=) - likely benign g.43603025C>G g.43743778C>G - - MAOA_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-?/. - c.1326C>T r.(?) p.(Ser442=) - likely benign g.43603104C>T - MAOA(NM_001270458.1):c.927C>T (p.S309=) - MAOA_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1371G>A r.(?) p.(Arg457=) - likely benign g.43603149G>A - MAOA(NM_001270458.1):c.972G>A (p.R324=) - MAOA_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.1410T>C r.(?) p.(Asp470=) - benign g.43603391T>C g.43744144T>C MAOA(NM_001270458.2):c.1011T>C (p.D337=) - MAOA_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.1410T>C r.(?) p.(Asp470=) - benign g.43603391T>C g.43744144T>C MAOA(NM_001270458.2):c.1011T>C (p.D337=) - MAOA_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-?/. - c.1410T>C r.(=) p.(=) - likely benign g.43603391T>C g.43744144T>C D470D - MAOA_000001 recurrent, found 64 times PubMed: Tarpey 2009 - - Germline - 64/208 cases - 0 - Lucy Raymond
-/. - c.1449G>A r.(?) p.(Ala483=) - benign g.43603625G>A g.43744378G>A MAOA(NM_001270458.1):c.1050G>A (p.A350=) - MAOA_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.1559A>G r.(?) p.(Lys520Arg) - likely benign g.43603735A>G - MAOA(NM_001270458.1):c.1160A>G (p.K387R) - MAOA_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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