Unique variants in gene MAPT

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

91 entries on 1 page. Showing entries 1 - 91.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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 benign r.(?) p.(=) g.44039691A>G - MAPT(NM_001123066.2):c.-13A>G (p.?) - MAPT_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_Nijmegen, VKGL-NL_Rotterdam
?/. 1 - c.121G>A VUS r.(?) p.(Ala41Thr) g.44039824G>A - MAPT(NM_001123066.3):c.121G>A (p.A41T) - MAPT_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.134-2537T>C likely benign r.(=) p.(=) g.44046688T>C - MAPT(NM_001123066.3):c.134-2537T>C - MAPT_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.176C>T - r.(?) p.(Pro59Leu) g.44049267C>T g.45971901C>T - - MAPT_000009 - - - - Germline - - - - - Zafar Iqbal
-/. 3 - c.220+18C>T benign r.(=) p.(=) g.44049329C>T - MAPT(NM_001123066.3):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 likely benign, benign r.(=) p.(=) g.44051743G>A - MAPT(NM_001123066.3):c.221-8G>A - MAPT_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_VUmc
-?/. 1 - c.256G>A likely benign r.(?) p.(Gly86Ser) g.44051786G>A - MAPT(NM_001123066.3):c.256G>A (p.G86S) - MAPT_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 2 - c.258C>G likely benign r.(?) p.(=) g.44051788C>G - MAPT(NM_005910.5):c.258C>G (p.=) - MAPT_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc, VKGL-NL_Rotterdam
?/., -?/. 2 - c.284C>T VUS, likely benign r.(?) p.(Thr95Met) g.44051814C>T - 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 benign r.(=) p.(=) g.44051846A>G - MAPT(NM_001123066.3):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 likely benign r.(=) p.(=) g.44051849C>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.418C>T VUS r.(?) p.(Pro140Ser) g.44060588C>T - MAPT(NM_001123066.3):c.418C>T (p.P140S) - MAPT_000115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 2 - c.605C>T benign r.(?) p.(Pro202Leu) g.44060775C>T - MAPT(NM_001123066.3):c.605C>T (p.P202L) - MAPT_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_VUmc
-?/. 1 - c.616G>A likely benign r.(?) p.(Ala206Thr) g.44060786G>A - MAPT(NM_001123066.3):c.616G>A (p.A206T) - MAPT_000116 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 2 - c.637G>A likely benign r.(?) p.(Gly213Arg) g.44060807G>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
-?/. 1 - c.664C>A likely benign r.(?) p.(Arg222Ser) g.44060834C>A - MAPT(NM_001123066.3):c.664C>A (p.R222S) - MAPT_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/., -?/. 5 - c.671T>G VUS, likely benign r.(?) p.(Val224Gly) g.44060841T>G g.45983475T>G MAPT(NM_001123066.3):c.671T>G (p.V224G) - MAPT_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record, Germline - - - - - VKGL-NL_AMC, VKGL-NL_Leiden, Zafar Iqbal, VKGL-NL_Rotterdam, VKGL-NL_Utrecht
-?/. 1 - c.687C>A likely benign r.(?) p.(=) g.44060857C>A - MAPT(NM_001123066.3):c.687C>A (p.P229=) - MAPT_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 3 - c.689A>G benign r.(?) p.(Gln230Arg) g.44060859A>G - MAPT(NM_001123066.3):c.689A>G (p.Q230R) - MAPT_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_VUmc, VKGL-NL_Utrecht
-?/. 1 - c.783G>A likely benign r.(?) p.(=) g.44060953G>A - MAPT(NM_001123066.3):c.783G>A (p.A261=) - MAPT_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.803C>G VUS r.(?) p.(Pro268Arg) g.44060973C>G - MAPT(NM_001123066.3):c.803C>G (p.P268R) - MAPT_000118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 2 - c.853G>A benign r.(?) p.(Asp285Asn) g.44061023G>A - MAPT(NM_001123066.3):c.853G>A (p.D285N) - MAPT_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_VUmc
-/. 2 - c.855C>T benign r.(?) p.(=) g.44061025C>T - MAPT(NM_001123066.3):c.855C>T (p.=) - MAPT_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_VUmc
-/. 2 - c.866T>C benign r.(?) p.(Val289Ala) g.44061036T>C - MAPT(NM_001123066.3):c.866T>C (p.V289A) - MAPT_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_VUmc
-/., -?/. 2 - c.953C>T benign, likely benign r.(?) p.(Ser318Leu) g.44061123C>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 likely benign r.(?) p.(Gly339Ser) g.44061185G>A - MAPT(NM_001123066.3):c.1015G>A (p.G339S) - MAPT_000120 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 2 - c.1101C>T likely benign r.(?) p.(=) g.44061271C>T - MAPT(NM_001123066.3):c.1101C>T (p.=) - MAPT_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_VUmc
-/. 2 - c.1108C>T benign r.(?) p.(Arg370Trp) g.44061278C>T - MAPT(NM_001123066.3):c.1108C>T (p.R370W) - MAPT_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_VUmc
-?/. 1 - c.1126+21C>T likely benign r.(=) p.(=) g.44061317C>T - MAPT(NM_001123066.3):c.1126+21C>T - MAPT_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1134G>C likely benign r.(?) p.(Met378Ile) g.44064413G>C - MAPT(NM_005910.5):c.381G>C (p.M127I) - MAPT_000121 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1164C>T likely benign r.(?) p.(=) g.44064443C>T - MAPT(NM_001123066.3):c.1164C>T (p.S388=) - MAPT_000122 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1218T>C likely benign r.(?) p.(=) g.44067279T>C - MAPT(NM_001123066.3):c.1218T>C (p.N406=) - MAPT_000123 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/., -?/. 2 - c.1280C>T VUS, likely benign r.(?) p.(Ser427Phe) g.44067341C>T - MAPT(NM_001123066.3):c.1280C>T (p.S427F) - MAPT_000124 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
-/. 4 - c.1321T>C benign r.(?) p.(Tyr441His) g.44067382T>C - MAPT(NM_001123066.3):c.1321T>C (p.Y441H) - MAPT_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_Nijmegen, VKGL-NL_Utrecht, VKGL-NL_VUmc
-/. 3 - c.1339T>C benign r.(?) p.(Ser447Pro) g.44067400T>C - MAPT(NM_001123066.3):c.1339T>C (p.S447P) - MAPT_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_Nijmegen, VKGL-NL_VUmc
-?/., ?/. 3 - c.1405G>A likely benign r.(?) p.(Ala469Thr) g.44068850G>A g.45991484G>A MAPT(NM_005910.5):c.454G>A (p.A152T) - MAPT_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record, Germline - - - - - VKGL-NL_AMC, VKGL-NL_VUmc, Zafar Iqbal
?/. 1 - c.1421C>A - r.(?) p.(Ala474Glu) g.44068866C>A g.45991500C>A - - MAPT_000004 - - - - Germline - - - - - Zafar Iqbal
-/. 4 - c.1479G>A benign r.(?) p.(=) g.44068924G>A - MAPT(NM_001123066.3):c.1479G>A (p.=) - MAPT_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_Nijmegen, VKGL-NL_Rotterdam, VKGL-NL_VUmc
-/. 1 - c.1483G>A benign r.(?) p.(Ala495Thr) g.44068928G>A - MAPT(NM_005910.5):c.532G>A (p.A178T) - MAPT_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 3 - c.1507+2342T>C benign r.(=) p.(=) g.44071294T>C - MAPT(NM_001123066.3):c.1512T>C (p.=) - MAPT_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_Utrecht, VKGL-NL_VUmc
?/. 1 - c.1507+2367C>A VUS r.(=) p.(=) g.44071319C>A - MAPT(NM_001123066.3):c.1537C>A (p.P513T) - MAPT_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1508-31T>C likely benign r.(=) p.(=) g.44073734T>C - MAPT(NM_001123066.3):c.1562-31T>C - MAPT_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.1508-26G>A benign r.(=) p.(=) g.44073739G>A - MAPT(NM_005910.5):c.557-26G>A - MAPT_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1508-12C>T likely benign r.(=) p.(=) g.44073753C>T - MAPT(NM_005910.5):c.557-12C>T - MAPT_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.1532G>A - r.(?) p.(Arg511His) g.44073789G>A g.45996423G>A - - MAPT_000005 - - - - Germline - - - - - Zafar Iqbal
?/. 1 - c.1603C>A - r.(?) p.(Pro535Thr) g.44073860C>A g.45996494C>A - - MAPT_000006 - - - - Germline - - - - - Zafar Iqbal
-?/. 1 - c.1609A>C likely benign r.(?) p.(Thr537Pro) g.44073866A>C - 1 more item - MAPT_000125 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1616A>G likely benign r.(?) p.(Glu539Gly) g.44073873A>G - 1 more item - MAPT_000126 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 4 - c.1632A>G benign r.(?) p.(=) g.44073889A>G - MAPT(NM_001123066.3):c.1686A>G (p.=) - MAPT_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc, VKGL-NL_AMC, VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
?/. 1 - c.1666G>A - r.(?) p.(Ala556Thr) g.44073923G>A g.45996557G>A - - MAPT_000007 - - - - Germline - - - - - Zafar Iqbal
-?/. 1 - c.1698C>A likely benign r.(?) p.(=) g.44073955C>A - MAPT(NM_001123066.3):c.1752C>A (p.P584=) - MAPT_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1713G>A likely benign r.(?) p.(=) g.44073970G>A - MAPT(NM_005910.5):c.762G>A (p.K254=) - MAPT_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 4 - c.1716T>C benign r.(?) p.(=) g.44073973T>C - MAPT(NM_001123066.3):c.1770T>C (p.=) - MAPT_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_Rotterdam, VKGL-NL_VUmc, VKGL-NL_Nijmegen
-?/. 1 - c.1731C>T likely benign r.(?) p.(=) g.44073988C>T - MAPT(NM_005910.5):c.780C>T (p.I260=) - MAPT_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1749G>A likely benign r.(?) p.(=) g.44074006G>A - MAPT(NM_001123066.3):c.1803G>A (p.L601=) - MAPT_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 4 - c.1761G>A benign r.(?) p.(=) g.44074018G>A - MAPT(NM_001123066.3):c.1815G>A (p.=) - MAPT_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_VUmc
+/. 1 - c.1766G>T pathogenic r.(?) p.(Gly589Val) g.44074023G>T - MAPT(NM_005910.5):c.815G>T (p.G272V) - MAPT_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1773+41G>A likely benign r.(=) p.(=) g.44074071G>A - MAPT(NM_001123066.3):c.1827+41G>A - MAPT_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1809C>T likely benign r.(?) p.(=) g.44087711C>T - MAPT(NM_005910.5):c.858C>T (p.=) - MAPT_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/., ?/. 2 - c.1837A>G likely pathogenic, VUS r.(?) p.(Asn613Asp) g.44087739A>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
+/. 1 - c.1839T>C pathogenic r.(?) p.(=) g.44087741T>C - MAPT(NM_005910.5):c.888T>C (p.=) - MAPT_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 10 c.1843A>G - r.1774_1866del p.Ile595_Ile625del g.44087745A>G g.46010379A>G ex10 AAA>AAG (Lys298Glu) - MAPT_000010 effect on splicing confirmed with mini-gene construct PubMed: Iovino 2014 - - Germline - - - - - Johan den Dunnen
+/. 1 - c.1852C>T pathogenic r.(?) p.(Pro618Ser) g.44087754C>T - MAPT(NM_005910.5):c.901C>T (p.P301S) - MAPT_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 - c.1853C>T pathogenic r.(?) p.(Pro618Leu) g.44087755C>T - MAPT(NM_005910.5):c.902C>T (p.P301L) - MAPT_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.1858G>T VUS r.(?) p.(Gly620Cys) g.44087760G>T - MAPT(NM_005910.5):c.907G>T (p.G303C) - MAPT_000127 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.1861G>A - r.(?) p.(Gly621Ser) g.44087763G>A g.46010397G>A - - MAPT_000008 - - - - Germline - - - - - Zafar Iqbal
+?/. 1 - c.1866+14C>A - r.spl? p.(?) g.44087782C>A - - - MAPT_000114 - - - - Germline/De novo (untested) - - - - - Gemeinschaftspraxis für Humangenetik Dresden
+/. 1 - c.1866+16C>T pathogenic r.(=) p.(=) g.44087784C>T - MAPT(NM_005910.5):c.915+16C>T - MAPT_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.1866+28C>T benign r.(=) p.(=) g.44087796C>T - MAPT(NM_005910.5):c.915+28C>T - MAPT_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/., -/. 2 - c.1866+29G>A likely benign, benign r.(=) p.(=) g.44087797G>A - MAPT(NM_001123066.3):c.1920+29G>A - MAPT_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_Rotterdam
+/. 2 - c.1895T>G pathogenic r.(?) p.(Leu632Arg) g.44091637T>G - MAPT(NM_001123066.3):c.1949T>G (p.L650R) - MAPT_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_VUmc
+/. 1 - c.1910C>T pathogenic r.(?) p.(Ser637Phe) g.44091652C>T - MAPT(NM_005910.5):c.959C>T (p.S320F) - MAPT_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.1948+34G>A benign r.(=) p.(=) g.44091724G>A - MAPT(NM_005910.5):c.997+34G>A - MAPT_000108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 - c.2006C>T pathogenic r.(?) p.(Ser669Leu) g.44096041C>T - MAPT(NM_001123066.3):c.2060C>T (p.S687L) - MAPT_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.2088C>T likely benign r.(?) p.(=) g.44101348C>T - MAPT(NM_005910.5):c.1137C>T (p.R379=) - MAPT_000128 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/?, +/. 2 14 c.2116G>A pathogenic r.(?) p.(Gly706Arg) g.44101376G>A - MAPT(NM_005910.5):c.1165G>A (p.G389R) - MAPT_000001, MAPT_000080 VKGL data sharing initiative Nederland - - - Germline, CLASSIFICATION record - - - - - sudha kohli, VKGL-NL
+/. 1 - c.2167C>T pathogenic r.(?) p.(Arg723Trp) g.44101427C>T - MAPT(NM_005910.5):c.1216C>T (p.R406W) - MAPT_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.2171A>G likely benign r.(?) p.(His724Arg) g.44101431A>G - MAPT(NM_005910.5):c.1220A>G (p.H407R) - MAPT_000129 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.*26T>C benign r.(=) p.(=) g.44101563T>C - MAPT(NM_005910.5):c.*26T>C - MAPT_000109 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.*64G>A VUS r.(=) p.(=) g.44101601G>A - MAPT(NM_005910.5):c.*64G>A - MAPT_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.*68_*70del VUS r.(=) p.(=) g.44101605_44101607del - MAPT(NM_005910.5):c.*68_*70delAAT - MAPT_000111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.*7369A>G benign r.(=) p.(=) g.44108906A>G - KANSL1(NM_001193466,1):c.3254T>C (p.Ile1085Thr) - KANSL1_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.*7913G>A likely benign r.(=) p.(=) g.44109450G>A - KANSL1(NM_001193465.1):c.3050C>T (p.(Thr1017Ile), p.(Thr1018Ile)) - MAPT_000130 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 - c.*7935G>A pathogenic r.(=) p.(=) g.44109472G>A - KANSL1(NM_001193466.1):c.3031C>T (p.R1011*) - MAPT_000131 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.*7937G>A benign r.(=) p.(=) g.44109474G>A - KANSL1(NM_001193466.1):c.3029C>T (p.P1010L) - KANSL1_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 - c.*7969del pathogenic r.(?) p.(=) g.44109506del - KANSL1(NM_001193466.1):c.2997delA (p.A1000Hfs*14) - MAPT_000132 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 - c.*8029dup pathogenic r.(?) p.(=) g.44109566dup - KANSL1(NM_001193466.1):c.2939dupT (p.L980Ffs*11) - MAPT_000133 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/. 1 - c.*8905T>C likely pathogenic r.(=) p.(=) g.44110442T>C - KANSL1(NM_001193466.1):c.2837+4A>G - KANSL1_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.*8995G>A benign r.(=) p.(=) g.44110532G>A - KANSL1(NM_001193466,1):c.2751T>C (p.=) - KANSL1_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.*9004G>A benign r.(=) p.(=) g.44110541G>A - KANSL1(NM_001193466,1):c.2742C>T (p.=) - KANSL1_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.*9006C>T likely benign r.(=) p.(=) g.44110543C>T - KANSL1(NM_015443.3):c.2740G>A (p.Asp914Asn) - KANSL1_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
Legend