Unique variants in gene MAPT

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

134 entries on 2 pages. Showing entries 1 - 100.
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Effect     

Reported     

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     
-/. 3 - c.-13A>G r.(?) p.(=) - benign g.44039691A>G g.45962325A>G MAPT(NM_001123066.3):c.-13A>G, MAPT(NM_005910.5):c.-13A>G - MAPT_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_Nijmegen, VKGL-NL_Rotterdam
+/+ 1 2 c.14G>A r.(?) p.(Arg5His) - pathogenic g.44039717G>A g.45962351G>A - - MAPT_000037 Point mutation in coding region predicting an amino acid substitution - - rs63750959 Unknown no - - - - Marc Cruts
+/+ 1 2 c.14G>T r.(?) p.(Arg5Leu) - pathogenic g.44039717G>T g.45962351G>T - - MAPT_000038 Point mutation in coding region predicting an amino acid substitution - - rs63750959 Unknown no - - - - Marc Cruts
-/? 1 2 c.42C>T r.(?) p.(=) - benign g.44039745C>T g.45962379C>T - - MAPT_000011 1 more item - - - Unknown - - - - - Marc Cruts
-/? 1 2 c.50C>T r.(?) p.(Thr17Met) - benign g.44039753C>T g.45962387C>T - - MAPT_000012 1 more item - - - Unknown - - - - - Marc Cruts
-/? 1 2 c.54C>T r.(?) p.(=) - benign g.44039757C>T g.45962391C>T - - MAPT_000013 1 more item - - rs63750811 Unknown - - - - - Marc Cruts
-/? 1 2 c.88A>G r.(?) p.(Thr30Ala) - benign g.44039791A>G g.45962425A>G - - MAPT_000014 1 more item - - - Unknown - - - - - Marc Cruts
-/? 1 2 c.117G>A r.(?) p.(=) - benign g.44039820G>A g.45962454G>A - - MAPT_000015 Silent point mutation in coding region - - rs63750529 Unknown - - - - - Marc Cruts
?/. 1 - c.121G>A r.(?) p.(Ala41Thr) - VUS g.44039824G>A g.45962458G>A MAPT(NM_001123066.3):c.121G>A (p.A41T) - MAPT_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.134-2537T>C r.(=) p.(=) - likely benign g.44046688T>C g.45969322T>C MAPT(NM_001123066.3):c.134-2537T>C - MAPT_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 3 - c.220+18C>T r.(=) p.(=) - benign g.44049329C>T g.45971963C>T MAPT(NM_001123066.3):c.220+18C>T, MAPT(NM_005910.5):c.220+18C>T - MAPT_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_Rotterdam, VKGL-NL_VUmc
-?/., -/. 2 - c.221-8G>A r.(=) p.(=) - likely benign, benign g.44051743G>A g.45974377G>A MAPT(NM_001123066.3):c.221-8G>A - MAPT_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_VUmc
-?/., -/- 2 4 c.256G>A r.(?) p.(Gly86Ser) - likely benign, benign g.44051786G>A g.45974420G>A MAPT(NM_001123066.3):c.256G>A (p.G86S) - MAPT_000040 VKGL data sharing initiative Nederland, 1 more item - - rs63751135 CLASSIFICATION record, Unknown no - - - - VKGL-NL_Rotterdam, Marc Cruts
-?/. 2 - c.258C>G r.(?) p.(Gly86=) - likely benign g.44051788C>G g.45974422C>G MAPT(NM_001123066.3):c.258C>G (p.G86=), MAPT(NM_005910.5):c.258C>G (p.G86=) - MAPT_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc, VKGL-NL_Rotterdam
?/., -?/. 2 - c.284C>T r.(?) p.(Thr95Met) - VUS, likely benign g.44051814C>T g.45974448C>T MAPT(NM_001123066.3):c.284C>T (p.T95M), MAPT(NM_005910.5):c.284C>T (p.T95M) - MAPT_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_VUmc
-/. 4 - c.307+9A>G r.(=) p.(=) - benign g.44051846A>G g.45974480A>G MAPT(NM_001123066.3):c.307+9A>G, MAPT(NM_005910.5):c.307+9A>G - MAPT_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc, VKGL-NL_AMC, VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
-?/. 2 - c.307+12C>G r.(=) p.(=) - likely benign g.44051849C>G g.45974483C>G MAPT(NM_005910.5):c.307+12C>G - MAPT_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc, VKGL-NL_Rotterdam
?/. 1 - c.319G>A r.(?) p.(Gly107Ser) - VUS g.44055752G>A - MAPT(NM_001123066.3):c.319G>A (p.G107S) - MAPT_000139 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.418C>T r.(?) p.(Pro140Ser) - VUS g.44060588C>T g.45983222C>T MAPT(NM_001123066.3):c.418C>T (p.P140S) - MAPT_000115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/?, -/. 3 6 c.605C>T r.(?) p.(Pro202Leu) - benign g.44060775C>T g.45983409C>T MAPT(NM_001123066.3):c.605C>T (p.P202L) - MAPT_000016 Point mutation in coding region predicting an amino acid substitution, 1 more item - - rs63750417 Unknown, CLASSIFICATION record - - - - - Marc Cruts, VKGL-NL_AMC, VKGL-NL_VUmc
-?/. 1 - c.616G>A r.(?) p.(Ala206Thr) - likely benign g.44060786G>A g.45983420G>A MAPT(NM_001123066.3):c.616G>A (p.A206T) - MAPT_000116 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 2 - c.637G>A r.(?) p.(Gly213Arg) - likely benign g.44060807G>A g.45983441G>A MAPT(NM_001123066.3):c.637G>A (p.G213R) - MAPT_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_Utrecht
-?/. 2 - c.664C>A r.(?) p.(Arg222Ser) - likely benign g.44060834C>A g.45983468C>A MAPT(NM_001123066.3):c.664C>A (p.R222S) - MAPT_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen
?/., -?/. 3 - c.671T>G r.(?) p.(Val224Gly) - VUS, likely benign g.44060841T>G g.45983475T>G MAPT(NM_001123066.3):c.671T>G (p.V224G) - MAPT_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_Rotterdam, VKGL-NL_Utrecht
-?/. 1 - c.687C>A r.(?) p.(Pro229=) - likely benign g.44060857C>A g.45983491C>A MAPT(NM_001123066.3):c.687C>A (p.P229=) - MAPT_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/?, -/. 5 6 c.689A>G r.(?) p.(Gln230Arg) - benign g.44060859A>G g.45983493A>G MAPT(NM_001123066.3):c.689A>G (p.Q230R) - MAPT_000017 Point mutation in coding region predicting an amino acid substitution, 2 more items Faruq 2020, submtted - rs63750072 Unknown, CLASSIFICATION record, Germline - 164/2795 individuals - - - Marc Cruts, VKGL-NL_AMC, VKGL-NL_VUmc, Mohammed Faruq, VKGL-NL_Utrecht
-?/. 1 - c.783G>A r.(?) p.(Ala261=) - likely benign g.44060953G>A g.45983587G>A MAPT(NM_001123066.3):c.783G>A (p.A261=) - MAPT_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.803C>G r.(?) p.(Pro268Arg) - VUS g.44060973C>G g.45983607C>G MAPT(NM_001123066.3):c.803C>G (p.P268R) - MAPT_000118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/?, -/. 3 6 c.853G>A r.(?) p.(Asp285Asn) - benign g.44061023G>A g.45983657G>A MAPT(NM_001123066.3):c.853G>A (p.D285N) - MAPT_000018 Point mutation in coding region predicting an amino acid substitution, 1 more item - - rs62063786 Unknown, CLASSIFICATION record - - - - - Marc Cruts, VKGL-NL_AMC, VKGL-NL_VUmc
-/?, -/. 3 6 c.855C>T r.(?) p.(=), p.(Asp285=) - benign g.44061025C>T g.45983659C>T MAPT(NM_001123066.3):c.855C>T (p.D285=) - MAPT_000019 Silent point mutation in coding region, VKGL data sharing initiative Nederland - - rs63750222 Unknown, CLASSIFICATION record - - - - - Marc Cruts, VKGL-NL_AMC, VKGL-NL_VUmc
-/?, -/. 3 6 c.866T>C r.(?) p.(Val289Ala) - benign g.44061036T>C g.45983670T>C MAPT(NM_001123066.3):c.866T>C (p.V289A) - MAPT_000020 Point mutation in coding region predicting an amino acid substitution, 1 more item - - rs62063787 Unknown, CLASSIFICATION record - - - - - Marc Cruts, VKGL-NL_AMC, VKGL-NL_VUmc
-?/. 1 - c.890C>T r.(?) p.(Ala297Val) - likely benign g.44061060C>T g.45983694C>T MAPT(NM_001123066.3):c.890C>T (p.A297V) - MAPT_000138 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/., -?/. 2 - c.953C>T r.(?) p.(Ser318Leu) - benign, likely benign g.44061123C>T g.45983757C>T MAPT(NM_001123066.3):c.953C>T (p.S318L) - MAPT_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_VUmc
-?/. 1 - c.1015G>A r.(?) p.(Gly339Ser) - likely benign g.44061185G>A g.45983819G>A MAPT(NM_001123066.3):c.1015G>A (p.G339S) - MAPT_000120 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 2 - c.1101C>T r.(?) p.(Pro367=) - likely benign g.44061271C>T g.45983905C>T MAPT(NM_001123066.3):c.1101C>T (p.P367=) - MAPT_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_VUmc
-/?, -/. 3 6 c.1108C>T r.(?) p.(Arg370Trp) - benign g.44061278C>T g.45983912C>T MAPT(NM_001123066.3):c.1108C>T (p.R370W) - MAPT_000021 Point mutation in coding region predicting an amino acid substitution, 1 more item - - rs63750862 Unknown, CLASSIFICATION record - - - - - Marc Cruts, VKGL-NL_AMC, VKGL-NL_VUmc
-?/. 1 - c.1126+21C>T r.(=) p.(=) - likely benign g.44061317C>T g.45983951C>T MAPT(NM_001123066.3):c.1126+21C>T - MAPT_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.1134G>C r.(?) p.(Met378Ile) - likely benign g.44064413G>C g.45987047G>C MAPT(NM_005910.5):c.381G>C (p.M127I) - MAPT_000121 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 1 - c.1164C>T r.(?) p.(Ser388=) - likely benign g.44064443C>T g.45987077C>T MAPT(NM_001123066.3):c.1164C>T (p.S388=) - MAPT_000122 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1218T>C r.(?) p.(Asn406=) - likely benign g.44067279T>C g.45989913T>C MAPT(NM_001123066.3):c.1218T>C (p.N406=) - MAPT_000123 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/., -?/. 3 - c.1280C>T r.(?) p.(Ser427Phe) - VUS, likely benign g.44067341C>T g.45989975C>T MAPT(NM_001123066.3):c.1280C>T (p.S427F) - MAPT_000124 VKGL data sharing initiative Nederland, 1 more item Faruq 2020, submtted - rs143956882 CLASSIFICATION record, Germline - 3/2795 individuals - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht, Mohammed Faruq
-/?, -/. 5 8 c.1321T>C r.(?) p.(Tyr441His) - benign g.41423219T>C, g.44067382T>C g.43345851T>C, g.45990016T>C MAPT(NM_001123066.3):c.1321T>C (p.Y441H) - MAPT_000022 Point mutation in coding region predicting an amino acid substitution, 1 more item - - rs2258689 Unknown, CLASSIFICATION record - - - - - Marc Cruts, VKGL-NL_AMC, VKGL-NL_Nijmegen, VKGL-NL_Utrecht, VKGL-NL_VUmc
-/?, -/. 4 8 c.1339T>C r.(?) p.(Ser447Pro) - benign g.44067400T>C g.45990034T>C MAPT(NM_001123066.3):c.1339T>C (p.S447P) - MAPT_000023 Point mutation in coding region predicting an amino acid substitution, 1 more item - - rs10445337 Unknown, CLASSIFICATION record - - - - - Marc Cruts, VKGL-NL_AMC, VKGL-NL_Nijmegen, VKGL-NL_VUmc
-?/. 2 - c.1405G>A r.(?) p.(Ala469Thr) - likely benign g.44068850G>A g.45991484G>A MAPT(NM_001123066.3):c.1405G>A (p.A469T), MAPT(NM_005910.5):c.454G>A (p.A152T) - MAPT_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_VUmc
-/?, -/. 5 9 c.1479G>A r.(?) p.(=), p.(Pro493=) - benign g.44068924G>A g.45991558G>A MAPT(NM_001123066.3):c.1479G>A (p.P493=), MAPT(NM_005910.5):c.528G>A (p.P176=) - MAPT_000024 Silent point mutation in coding region, VKGL data sharing initiative Nederland - - rs1052551 Unknown, CLASSIFICATION record - - - - - Marc Cruts, VKGL-NL_AMC, VKGL-NL_Nijmegen, VKGL-NL_Rotterdam, VKGL-NL_VUmc
-/?, -/. 3 9 c.1483G>A r.(?) p.(Ala495Thr) - benign g.44068928G>A g.45991562G>A MAPT(NM_005910.5):c.532G>A (p.A178T) - MAPT_000025 VKGL data sharing initiative Nederland, 1 more item - - rs63750612 Unknown, CLASSIFICATION record - - - - - Marc Cruts, VKGL-NL_Rotterdam, VKGL-NL_VUmc
-?/. 1 - c.1507+16T>C r.(=) p.(=) - likely benign g.44068968T>C g.45991602T>C MAPT(NM_005910.5):c.556+16T>C - MAPT_000134 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/?, -/. 4 10 c.1512T>C r.(?) p.(=), p.(Thr504=) - benign g.44071294T>C g.45993928T>C MAPT(NM_001123066.3):c.1512T>C (p.T504=) - MAPT_000026 Silent point mutation in coding region, VKGL data sharing initiative Nederland - - rs62063845 Unknown, CLASSIFICATION record - - - - - Marc Cruts, VKGL-NL_AMC, VKGL-NL_Utrecht, VKGL-NL_VUmc
?/. 1 - c.1537C>A r.(?) p.(Pro513Thr) - VUS g.44071319C>A g.45993953C>A MAPT(NM_001123066.3):c.1537C>A (p.P513T) - MAPT_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1562-31T>C r.(=) p.(=) - likely benign g.44073734T>C g.45996368T>C MAPT(NM_001123066.3):c.1562-31T>C - MAPT_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 1 - c.1562-26G>A r.(=) p.(=) - benign g.44073739G>A g.45996373G>A MAPT(NM_005910.5):c.557-26G>A - MAPT_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1562-12C>T r.(=) p.(=) - likely benign g.44073753C>T g.45996387C>T MAPT(NM_005910.5):c.557-12C>T - MAPT_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/? 1 11 c.1605C>T r.(?) p.(=) - benign g.44073808C>T g.45996442C>T - - MAPT_000027 1 more item - - - Unknown - - - - - Marc Cruts
-?/. 1 - c.1659A>C r.(?) p.(Pro553=) - likely benign g.44073862A>C g.45996496A>C MAPT(NM_001123066.3):c.1659A>C (p.P553=) - MAPT_000135 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1663A>C r.(?) p.(Thr555Pro) - likely benign g.44073866A>C g.45996500A>C MAPT(NM_001123066.3):c.1663A>C (p.T555P) - MAPT_000125 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/?, -/. 5 11 c.1686A>G r.(?) p.(=), p.(Ala562=) - benign g.41429726A>G, g.44073889A>G g.43352358A>G, g.45996523A>G MAPT(NM_001123066.3):c.1686A>G (p.A562=), MAPT(NM_005910.5):c.681A>G (p.A227=) - MAPT_000028 Silent point mutation in coding region, VKGL data sharing initiative Nederland - - rs1052553 Unknown, CLASSIFICATION record - - - - - Marc Cruts, VKGL-NL_VUmc, VKGL-NL_AMC, VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
-/? 1 11 c.1720G>A r.(?) p.(Ala574Thr) - benign g.41429760G>A g.43352392G>A - - MAPT_000029 1 more item - - rs63750096 Unknown - - - - - Marc Cruts
-?/. 1 - c.1752C>A r.(?) p.(Pro584=) - likely benign g.44073955C>A g.45996589C>A MAPT(NM_001123066.3):c.1752C>A (p.P584=) - MAPT_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1767G>A r.(?) p.(Lys589=) - likely benign g.44073970G>A g.45996604G>A MAPT(NM_005910.5):c.762G>A (p.K254=) - MAPT_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/?, -/. 5 11 c.1770T>C r.(?) p.(=), p.(Asn590=) - benign g.44073973T>C g.45996607T>C MAPT(NM_001123066.3):c.1770T>C (p.N590=), MAPT(NM_005910.5):c.765T>C (p.N255=) - MAPT_000030 Silent point mutation in coding region, VKGL data sharing initiative Nederland - - rs17652121 Unknown, CLASSIFICATION record - - - - - Marc Cruts, VKGL-NL_AMC, VKGL-NL_Rotterdam, VKGL-NL_VUmc, VKGL-NL_Nijmegen
+/+ 2 11 c.1775A>C r.(?) p.(Lys592Thr) - pathogenic g.44073978A>C g.45996612A>C - - MAPT_000041 Point mutation in coding region predicting an amino acid substitution - - rs63750129 Unknown no - - - - Marc Cruts
+/+ 1 11 c.1783A>G r.(?) p.(Ile595Val) - pathogenic g.44073986A>G g.45996620A>G - - MAPT_000042 Point mutation in coding region predicting an amino acid substitution - - rs63751249 Unknown no - - - - Marc Cruts
-?/. 1 - c.1785C>T r.(?) p.(Ile595=) - likely benign g.44073988C>T g.45996622C>T MAPT(NM_005910.5):c.780C>T (p.I260=) - MAPT_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+ 2 11 c.1801C>G r.(?) p.(Leu601Val) - pathogenic g.44074004C>G g.45996638C>G - - MAPT_000043 Point mutation in coding region predicting an amino acid substitution - - rs63750349 Unknown no - - - - Marc Cruts
-/?, -?/. 2 11 c.1803G>A r.(?) p.(=), p.(Leu601=) - benign, likely benign g.44074006G>A g.45996640G>A MAPT(NM_001123066.3):c.1803G>A (p.L601=) - MAPT_000031 ;VKGL data sharing initiative Nederland, 1 more item - - - Unknown, CLASSIFICATION record - - - - - Marc Cruts, VKGL-NL_Rotterdam
-/?, -/. 5 11 c.1815G>A r.(?) p.(=), p.(Pro605=) - benign g.44074018G>A g.45996652G>A MAPT(NM_001123066.3):c.1815G>A (p.P605=), MAPT(NM_005910.5):c.810G>A (p.P270=) - MAPT_000032 Silent point mutation in coding region, VKGL data sharing initiative Nederland - - rs11568305 Unknown, CLASSIFICATION record - - - - - Marc Cruts, VKGL-NL_AMC, VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_VUmc
+/+, +/. 2 11 c.1820G>T r.(?) p.(Gly607Val) - pathogenic g.44074023G>T g.45996657G>T MAPT(NM_005910.5):c.815G>T (p.G272V) - MAPT_000044 Point mutation in coding region predicting an amino acid substitution, 1 more item - - rs63750376 Unknown, CLASSIFICATION record yes - - - - Marc Cruts, VKGL-NL_Rotterdam
+/+ 1 11 c.1822G>A r.(?) p.(Gly608Arg) - pathogenic g.44074025G>A g.45996659G>A - - MAPT_000045 Point mutation in coding region predicting an amino acid substitution - - - Unknown no - - - - Marc Cruts
-?/. 1 - c.1827+41G>A r.(=) p.(=) - likely benign g.44074071G>A g.45996705G>A MAPT(NM_001123066.3):c.1827+41G>A - MAPT_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/+ 1 11i c.1828-10G>T r.(?) p.(=) - pathogenic g.44087666G>T g.46010300G>T - - MAPT_000046 1 more item - - rs63749974 Unknown yes - - - - Marc Cruts
+/+ 7 12 c.1842T>G r.(?) p.(Asn614Lys) - pathogenic g.44087690T>G g.46010324T>G - - MAPT_000047 Point mutation in coding region predicting an amino acid substitution - - rs63750756 Unknown yes, no - - - - Marc Cruts
?/? 2 12 c.1846_1848del r.(?) p.(Lys616del) - VUS g.44087694_44087696del g.46010328_46010330del - - MAPT_000048 Trinucleotide deletion resulting in deletion of 1 amino acid - - rs63750688 Unknown no - - - - Marc Cruts
+/+ 1 12 c.1857T>C r.(?) p.(=) - pathogenic g.44087705T>C g.46010339T>C - - MAPT_000049 Silent point mutation in coding region affecting splicing of exon 10 - - rs63751423 Unknown yes - - - - Marc Cruts
-?/. 1 - c.1863C>T r.(?) p.(Asn621=) - likely benign g.44087711C>T g.46010345C>T MAPT(NM_005910.5):c.858C>T (p.N286=) - MAPT_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+ 1 12 c.1891A>C r.(?) p.(Asn631His) - pathogenic g.44087739A>C g.46010373A>C - - MAPT_000050 Point mutation in coding region predicting an amino acid substitution - - rs63750416 Unknown no - - - - Marc Cruts
+?/., ?/. 2 - c.1891A>G r.(?) p.(Asn631Asp) - likely pathogenic, VUS g.44087739A>G g.46010373A>G MAPT(NM_005910.5):c.886A>G (p.N296D) - MAPT_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc, VKGL-NL_Rotterdam
+/+ 2 12 c.1892_1894del r.(?) p.(Asn631del) - pathogenic g.44087740_44087742del g.46010374_46010376del - - MAPT_000051 Homozygous mutation. /r/Trinucleotide deletion resulting in deletion of 1 amino acid - - rs63751392 Unknown no - - - - Marc Cruts
+/+, +/. 2 12 c.1893T>C r.(?) p.(=), p.(Asn631=) - pathogenic g.44087741T>C g.46010375T>C MAPT(NM_005910.5):c.888T>C (p.N296=) - MAPT_000052 Silent point mutation in coding region affecting splicing of exon 10, 1 more item - - rs63750912 Unknown, CLASSIFICATION record no - - - - Marc Cruts, VKGL-NL_Rotterdam
-/? 1 12 c.1903G>A r.(?) p.(Val635Ile) - benign g.44087751G>A g.46010385G>A - - MAPT_000033 1 more item - - rs63751438 Unknown - - - - - Marc Cruts
+/+ 1 12 c.1906C>A r.(?) p.(Pro636Thr) - pathogenic g.44087754C>A g.46010388C>A - - MAPT_000054 Point mutation in coding region predicting an amino acid substitution - - rs63751438 Unknown no - - - - Marc Cruts
+/+, +/. 7 12 c.1906C>T r.(?) p.(Pro636Ser) - pathogenic g.44087754C>T g.46010388C>T MAPT(NM_005910.5):c.901C>T (p.P301S) - MAPT_000053 Point mutation in coding region predicting an amino acid substitution, 1 more item - - rs63751438 Unknown, CLASSIFICATION record yes, no - - - - Marc Cruts, VKGL-NL_Rotterdam
+/+, +/. 33 12 c.1907C>T r.(?) p.(Pro636Leu) - pathogenic g.44087755C>T g.46010389C>T MAPT(NM_005910.5):c.902C>T (p.P301L) - MAPT_000055 Point mutation in coding region predicting an amino acid substitution, 1 more item - - rs63751273 Unknown, CLASSIFICATION record yes, no - - - - Marc Cruts, VKGL-NL_Rotterdam
-/? 1 12 c.1908G>A r.(?) p.(=) - benign g.44087756G>A g.46010390G>A - - MAPT_000034 Silent point mutation in coding region - - rs63751395 Unknown - - - - - Marc Cruts
?/. 1 - c.1912G>T r.(?) p.(Gly638Cys) - VUS g.44087760G>T g.46010394G>T MAPT(NM_005910.5):c.907G>T (p.G303C) - MAPT_000127 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+ 1 12 c.1913G>T r.(?) p.(Gly638Val) - pathogenic g.44087761G>T g.46010395G>T - - MAPT_000056 Point mutation in coding region predicting an amino acid substitution - - rs63751391 Unknown yes - - - - Marc Cruts
+/+ 3 12 c.1919G>A r.(?) p.(Ser640Asn) - pathogenic g.44087767G>A g.46010401G>A - - MAPT_000057 Point mutation in coding region predicting an amino acid substitution - - rs63751165 Unknown no, yes - - - - Marc Cruts
+/+ 1 12 c.1919G>T r.(?) p.(Ser640Ile) - pathogenic g.44087767G>T g.46010401G>T - - MAPT_000058 Point mutation in coding region predicting an amino acid substitution and affecting exon 10 splicing - - - Unknown no - - - - Marc Cruts
+/+ 3 12 c.1920T>C r.(?) p.(=) - pathogenic g.44087768T>C g.46010402T>C - - MAPT_000059 Silent point mutation in coding region affecting splicing of exon 10 - - rs63750568 Unknown no, yes - - - - Marc Cruts
+/+ 3 12i c.1920+3G>A r.(?) p.(=) - pathogenic g.44087771G>A g.46010405G>A - - MAPT_000060 Point mutation in intronic region affecting splicing of exon 10 - - rs63750013 Unknown yes, no - - - - Marc Cruts
+/+ 1 12i c.1920+11T>C r.(?) p.(=) - pathogenic g.44087779T>C g.46010413T>C - - MAPT_000061 Point mutation in intronic region affecting splicing of exon 10 - - rs63751394 Unknown no - - - - Marc Cruts
+/+ 1 12i c.1920+12C>T r.(?) p.(=) - pathogenic g.44087780C>T g.46010414C>T - - MAPT_000062 Point mutation in intronic region affecting splicing of exon 10 - - rs63750916 Unknown no - - - - Marc Cruts
+/+ 1 12i c.1920+13A>G r.(?) p.(=) - pathogenic g.44087781A>G g.46010415A>G - - MAPT_000063 Point mutation in intronic region affecting splicing of exon 10 - - rs63750308 Unknown no - - - - Marc Cruts
+/+ 2 12i c.1920+14C>T r.(?) p.(=) - pathogenic g.44087782C>T g.46010416C>T - - MAPT_000064 Point mutation in intronic region affecting splicing of exon 10 - - rs63750972 Unknown yes, no - - - - Marc Cruts
+/+, +/. 28 12i c.1920+16C>T r.(?), r.(=) p.(=) - pathogenic g.44087784C>T g.46010418C>T MAPT(NM_005910.5):c.915+16C>T - MAPT_000065 Point mutation in intronic region affecting splicing of exon 10, 1 more item - - rs63751011 Unknown, CLASSIFICATION record yes, no - - - - Marc Cruts, VKGL-NL_Rotterdam
+/+ 1 12i c.1920+19C>G r.(?) p.(=) - pathogenic g.44087787C>G g.46010421C>G - - MAPT_000066 Point mutation in intronic region affecting splicing of exon 10 - - rs63750162 Unknown no - - - - Marc Cruts
-/? 1 12i c.1920+25C>T r.(?) p.(=) - benign g.44087793C>T g.46010427C>T - - MAPT_000035 1 more item - - rs63750117 Unknown - - - - - Marc Cruts
-/. 1 - c.1920+28C>T r.(=) p.(=) - benign g.44087796C>T g.46010430C>T MAPT(NM_005910.5):c.915+28C>T - MAPT_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/?, -?/., -/. 3 12i c.1920+29G>A r.(?), r.(=) p.(=) - benign, likely benign g.41443634G>A, g.44087797G>A g.43366266G>A, g.46010431G>A MAPT(NM_001123066.3):c.1920+29G>A, MAPT(NM_005910.5):c.915+29G>A - MAPT_000036 ;VKGL data sharing initiative Nederland, 1 more item - - rs63751443 Unknown, CLASSIFICATION record - - - - - Marc Cruts, VKGL-NL_Utrecht, VKGL-NL_Rotterdam
+/+, +/. 4 13 c.1949T>G r.(?) p.(Leu650Arg) - pathogenic g.44091637T>G g.46014271T>G MAPT(NM_001123066.3):c.1949T>G (p.L650R), MAPT(NM_005910.5):c.944T>G (p.L315R) - MAPT_000067 Reduced Penetrance. /r/Point mutation in coding region predicting an amino acid substitution, 1 more item - - rs63749855 Unknown, CLASSIFICATION record no - - - - Marc Cruts, VKGL-NL_Rotterdam, VKGL-NL_VUmc
+/+ 1 13 c.1950G>A r.(?) p.(=) - pathogenic g.44091638G>A g.46014272G>A - - MAPT_000068 Silent point mutation in coding region - - rs63751231 Unknown no - - - - Marc Cruts
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