Full data view for gene MAPT

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

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

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-/. - c.-13A>G benign r.(=) p.(=) Unknown g.44039691A>G - MAPT:c.-13A>G - MAPT_000084 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.-13A>G benign r.(=) p.(=) Unknown g.44039691A>G - MAPT:c.-13A>G - MAPT_000084 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.-13A>G benign r.(=) p.(=) Unknown g.44039691A>G - MAPT:NM_001123066.2:c.-13A>G (?) - MAPT_000084 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.121G>A VUS r.(?) p.(Ala41Thr) Unknown g.44039824G>A - MAPT:c.121G>A (A41T) - MAPT_000085 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.134-2537T>C likely benign r.(=) p.(=) Unknown g.44046688T>C - MAPT:c.134-2537T>C - MAPT_000086 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.176C>T - r.(?) p.(Pro59Leu) Unknown g.44049267C>T g.45971901C>T - - MAPT_000009 - - - - Germline - - - 0 - DNA SEQ-NG - - PD - - - - - Norway - - 0 - - 1 Zafar Iqbal
-/. - c.220+18C>T benign r.(=) p.(=) Unknown g.44049329C>T - MAPT:c.220+18C>T - MAPT_000087 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.220+18C>T benign r.(=) p.(=) Unknown g.44049329C>T - MAPT:c.220+18C>T - MAPT_000087 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.220+18C>T benign r.(=) p.(=) Unknown g.44049329C>T - MAPT:c.220+18C>T - MAPT_000087 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.221-8G>A benign r.(=) p.(=) Unknown g.44051743G>A - MAPT:c.221-8G>A - MAPT_000088 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.258C>G likely benign r.(=) p.(=) Unknown g.44051788C>G - MAPT:c.258C>G (G86=) - MAPT_000089 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.284C>T VUS r.(?) p.(Thr95Met) Unknown g.44051814C>T - MAPT:c.284C>T (T95M) - MAPT_000090 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.307+9A>G benign r.(=) p.(=) Unknown g.44051846A>G - MAPT:c.307+9A>G - MAPT_000112 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.307+9A>G benign r.(=) p.(=) Unknown g.44051846A>G - MAPT:c.307+9A>G - MAPT_000112 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.307+9A>G benign r.(=) p.(=) Unknown g.44051846A>G - MAPT:c.307+9A>G - MAPT_000112 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.307+9A>G benign r.(=) p.(=) Unknown g.44051846A>G - MAPT:NM_001123066.2:c.307+9A>G - MAPT_000112 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.307+12C>G likely benign r.(=) p.(=) Unknown g.44051849C>G - MAPT:c.307+12C>G - MAPT_000091 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.605C>T benign r.(?) p.(Pro202Leu) Unknown g.44060775C>T - MAPT:c.605C>T (P202L) - MAPT_000016 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.605C>T benign r.(?) p.(Pro202Leu) Unknown g.44060775C>T - MAPT:c.605C>T (P202L) - MAPT_000016 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.637G>A likely benign r.(?) p.(Gly213Arg) Unknown g.44060807G>A - MAPT:c.637G>A (G213R) - MAPT_000092 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.637G>A likely benign r.(?) p.(Gly213Arg) Unknown g.44060807G>A - MAPT:c.637G>A (G213R) - MAPT_000092 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.664C>A likely benign r.(?) p.(Arg222Ser) Unknown g.44060834C>A - MAPT:c.664C>A (R222S) - MAPT_000093 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.671T>G - r.(?) p.(Val224Gly) Unknown g.44060841T>G g.45983475T>G - - MAPT_000002 - - - - Germline - - - 0 - DNA SEQ-NG - - PD - - - - - Norway - - 0 - - 3 Zafar Iqbal
-?/. - c.671T>G likely benign r.(?) p.(Val224Gly) Unknown g.44060841T>G - MAPT:c.671T>G (V224G) - MAPT_000002 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.671T>G likely benign r.(?) p.(Val224Gly) Unknown g.44060841T>G - MAPT:c.671T>G (V224G) - MAPT_000002 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.687C>A likely benign r.(=) p.(=) Unknown g.44060857C>A - MAPT:c.687C>A (=) - MAPT_000094 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.689A>G benign r.(?) p.(Gln230Arg) Unknown g.44060859A>G - MAPT:c.689A>G (Q230R) - MAPT_000017 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.689A>G benign r.(?) p.(Gln230Arg) Unknown g.44060859A>G - MAPT:c.689A>G (Q230R) - MAPT_000017 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.689A>G benign r.(?) p.(Gln230Arg) Unknown g.44060859A>G - MAPT:c.689A>G (Q230R) - MAPT_000017 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.853G>A benign r.(?) p.(Asp285Asn) Unknown g.44061023G>A - MAPT:c.853G>A (D285N) - MAPT_000018 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.853G>A benign r.(?) p.(Asp285Asn) Unknown g.44061023G>A - MAPT:c.853G>A (D285N) - MAPT_000018 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.855C>T benign r.(=) p.(=) Unknown g.44061025C>T - MAPT:c.855C>T (=) - MAPT_000019 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.855C>T benign r.(=) p.(=) Unknown g.44061025C>T - MAPT:c.855C>T (=) - MAPT_000019 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.866T>C benign r.(?) p.(Val289Ala) Unknown g.44061036T>C - MAPT:c.866T>C (V289A) - MAPT_000020 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.866T>C benign r.(?) p.(Val289Ala) Unknown g.44061036T>C - MAPT:c.866T>C (V289A) - MAPT_000020 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.1070del likely pathogenic r.(?) p.(Lys357Serfs*48) Unknown g.44061240del - MAPT:NM_001123066.3:c.1070del (Lys357fs) - MAPT_000113 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1101C>T likely benign r.(=) p.(=) Unknown g.44061271C>T - MAPT:c.1101C>T (=) - MAPT_000095 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1126+21C>T likely benign r.(=) p.(=) Unknown g.44061317C>T - MAPT:c.1126+21C>T - MAPT_000096 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1321T>C benign r.(?) p.(Tyr441His) Unknown g.44067382T>C - MAPT:c.1321T>C (Y441H) - MAPT_000022 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1321T>C benign r.(?) p.(Tyr441His) Unknown g.44067382T>C - MAPT:c.1321T>C (Y441H) - MAPT_000022 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1321T>C benign r.(?) p.(Tyr441His) Unknown g.44067382T>C - MAPT:c.1321T>C (Y441H) - MAPT_000022 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1321T>C benign r.(?) p.(Tyr441His) Unknown g.44067382T>C - MAPT:NM_001123066.2:c.1321T>C (Tyr441His) - MAPT_000022 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1339T>C benign r.(?) p.(Ser447Pro) Unknown g.44067400T>C - MAPT:c.1339T>C (S447P) - MAPT_000023 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1339T>C benign r.(?) p.(Ser447Pro) Unknown g.44067400T>C - MAPT:c.1339T>C (S447P) - MAPT_000023 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1339T>C benign r.(?) p.(Ser447Pro) Unknown g.44067400T>C - MAPT:NM_001123066.2:c.1339T>C (Ser447Pro) - MAPT_000023 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1405G>A - r.(?) p.(Ala469Thr) Unknown g.44068850G>A g.45991484G>A - - MAPT_000003 - - - - Germline - - - 0 - DNA SEQ-NG - - PD - - - - - Norway - - 0 - - 3 Zafar Iqbal
?/. - c.1421C>A - r.(?) p.(Ala474Glu) Unknown g.44068866C>A g.45991500C>A - - MAPT_000004 - - - - Germline - - - 0 - DNA SEQ-NG - - PD - - - - - Norway - - 0 - - 2 Zafar Iqbal
-/. - c.1479G>A benign r.(=) p.(=) Unknown g.44068924G>A - MAPT:c.1479G>A (=) - MAPT_000024 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1479G>A benign r.(=) p.(=) Unknown g.44068924G>A - MAPT:c.1479G>A (=) - MAPT_000024 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1479G>A benign r.(=) p.(=) Unknown g.44068924G>A - MAPT:c.1479G>A (=) - MAPT_000024 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1479G>A benign r.(=) p.(=) Unknown g.44068924G>A - MAPT:NM_001123066.2:c.1479G>A (Pro493Pro) - MAPT_000024 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1483G>A benign r.(?) p.(Ala495Thr) Unknown g.44068928G>A - MAPT:c.532G>A (A178T) - MAPT_000025 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1507+2342T>C benign r.(=) p.(=) Unknown g.44071294T>C - MAPT:c.1512T>C (=) - MAPT_000026 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1507+2342T>C benign r.(=) p.(=) Unknown g.44071294T>C - MAPT:c.1512T>C (=) - MAPT_000026 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1507+2342T>C benign r.(=) p.(=) Unknown g.44071294T>C - MAPT:c.1512T>C (=) - MAPT_000026 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1507+2367C>A VUS r.(=) p.(=) Unknown g.44071319C>A - MAPT:c.1537C>A (P513T) - MAPT_000097 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1508-31T>C likely benign r.(=) p.(=) Unknown g.44073734T>C - MAPT:c.1562-31T>C - MAPT_000098 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1508-26G>A benign r.(=) p.(=) Unknown g.44073739G>A - MAPT:c.557-26G>A - MAPT_000099 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1508-12C>T likely benign r.(=) p.(=) Unknown g.44073753C>T - MAPT:c.557-12C>T - MAPT_000100 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1532G>A - r.(?) p.(Arg511His) Unknown g.44073789G>A g.45996423G>A - - MAPT_000005 - - - - Germline - - - 0 - DNA SEQ-NG - - PD - - - - - Norway - - 0 - - 1 Zafar Iqbal
?/. - c.1603C>A - r.(?) p.(Pro535Thr) Unknown g.44073860C>A g.45996494C>A - - MAPT_000006 - - - - Germline - - - 0 - DNA SEQ-NG - - PD - - - - - Norway - - 0 - - 1 Zafar Iqbal
-/. - c.1632A>G benign r.(=) p.(=) Unknown g.44073889A>G - MAPT:c.1686A>G (=) - MAPT_000028 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1632A>G benign r.(=) p.(=) Unknown g.44073889A>G - MAPT:c.1686A>G (=) - MAPT_000028 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1632A>G benign r.(=) p.(=) Unknown g.44073889A>G - MAPT:c.1686A>G (=) - MAPT_000028 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1632A>G benign r.(=) p.(=) Unknown g.44073889A>G - MAPT:NM_001123066.2:c.1686A>G (Ala562Ala) - MAPT_000028 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1666G>A - r.(?) p.(Ala556Thr) Unknown g.44073923G>A g.45996557G>A - - MAPT_000007 - - - - Germline - - - 0 - DNA SEQ-NG - - PD - - - - - Norway - - 0 - - 5 Zafar Iqbal
-?/. - c.1698C>A likely benign r.(=) p.(=) Unknown g.44073955C>A - MAPT:c.1752C>A (P584=) - MAPT_000101 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1713G>A likely benign r.(=) p.(=) Unknown g.44073970G>A - MAPT:c.762G>A (K254=) - MAPT_000102 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1716T>C benign r.(=) p.(=) Unknown g.44073973T>C - MAPT:c.1770T>C (=) - MAPT_000030 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1716T>C benign r.(=) p.(=) Unknown g.44073973T>C - MAPT:c.1770T>C (=) - MAPT_000030 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1716T>C benign r.(=) p.(=) Unknown g.44073973T>C - MAPT:c.1770T>C (=) - MAPT_000030 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1716T>C benign r.(=) p.(=) Unknown g.44073973T>C - MAPT:NM_001123066.2:c.1770T>C (Asn590Asn) - MAPT_000030 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1731C>T likely benign r.(=) p.(=) Unknown g.44073988C>T - MAPT:c.780C>T (I260=) - MAPT_000103 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1761G>A benign r.(=) p.(=) Unknown g.44074018G>A - MAPT:c.1815G>A (=) - MAPT_000032 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1761G>A benign r.(=) p.(=) Unknown g.44074018G>A - MAPT:c.1815G>A (=) - MAPT_000032 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1761G>A benign r.(=) p.(=) Unknown g.44074018G>A - MAPT:c.1815G>A (=) - MAPT_000032 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1761G>A benign r.(=) p.(=) Unknown g.44074018G>A - MAPT:c.1815G>A (=) - MAPT_000032 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.1766G>T pathogenic r.(?) p.(Gly589Val) Unknown g.44074023G>T - MAPT:c.815G>T (G272V) - MAPT_000044 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1773+41G>A likely benign r.(=) p.(=) Unknown g.44074071G>A - MAPT:c.1827+41G>A - MAPT_000104 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1809C>T likely benign r.(=) p.(=) Unknown g.44087711C>T - MAPT:c.858C>T (=) - MAPT_000105 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1837A>G VUS r.(?) p.(Asn613Asp) Unknown g.44087739A>G - MAPT:c.886A>G (N296D) - MAPT_000106 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.1839T>C pathogenic r.(=) p.(=) Unknown g.44087741T>C - MAPT:c.888T>C (=) - MAPT_000052 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 10 c.1843A>G - r.1774_1866del p.Ile595_Ile625del Parent #1 g.44087745A>G g.46010379A>G ex10 AAA>AAG (Lys298Glu) - MAPT_000010 effect on splicing confirmed with mini-gene construct PubMed: Iovino 2014 - - Germline - - - 0 - DNA SEQ blood - FTD 24292008-Fam PubMed: Iovino 2014 3-generation family, affected mother F - United Kingdom (Great Britain) - 68y 0 - - 1 Johan den Dunnen
+/. - c.1852C>T pathogenic r.(?) p.(Pro618Ser) Unknown g.44087754C>T - MAPT:c.901C>T (P301S) - MAPT_000053 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.1853C>T pathogenic r.(?) p.(Pro618Leu) Unknown g.44087755C>T - MAPT:c.902C>T (P301L) - MAPT_000055 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1861G>A - r.(?) p.(Gly621Ser) Unknown g.44087763G>A g.46010397G>A - - MAPT_000008 - - - - Germline - - - 0 - DNA SEQ-NG - - PD - - - - - Norway - - 0 - - 1 Zafar Iqbal
+?/. - c.1866+14C>A - r.spl? p.(?) Unknown g.44087782C>A - - - MAPT_000114 - - - - Germline/De novo (untested) - - - 0 - DNA SEQ-NG - - FTD - - - - - - - - 0 - - 1 Gemeinschaftspraxis für Humangenetik Dresden
+/. - c.1866+16C>T pathogenic r.(=) p.(=) Unknown g.44087784C>T - MAPT:c.915+16C>T - MAPT_000065 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1866+28C>T benign r.(=) p.(=) Unknown g.44087796C>T - MAPT:c.915+28C>T - MAPT_000107 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1866+29G>A likely benign r.(=) p.(=) Unknown g.44087797G>A - MAPT:c.915+29G>A - MAPT_000036 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1866+29G>A benign r.(=) p.(=) Unknown g.44087797G>A - MAPT:c.915+29G>A - MAPT_000036 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.1895T>G pathogenic r.(?) p.(Leu632Arg) Unknown g.44091637T>G - MAPT:c.1949T>G (L650R) - MAPT_000067 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.1895T>G pathogenic r.(?) p.(Leu632Arg) Unknown g.44091637T>G - MAPT:c.1949T>G (L650R) - MAPT_000067 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.1910C>T pathogenic r.(?) p.(Ser637Phe) Unknown g.44091652C>T - MAPT:c.959C>T (S320F) - MAPT_000070 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1948+34G>A benign r.(=) p.(=) Unknown g.44091724G>A - MAPT:c.997+34G>A - MAPT_000108 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.2006C>T pathogenic r.(?) p.(Ser669Leu) Unknown g.44096041C>T - MAPT:c.2060C>T (S687L) - MAPT_000076 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.2116G>A pathogenic r.(?) p.(Gly706Arg) Unknown g.44101376G>A - MAPT:c.1165G>A (G389R) - MAPT_000080 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/? 14 c.2116G>A pathogenic r.(?) p.(Gly706Arg) Parent #1 g.44101376G>A - - - MAPT_000001 - - - - Germline - - - 0 - DNA SEQ - - FTD - - - F - India indian - 0 - - 1 sudha kohli
-/. - c.*26T>C benign r.(=) p.(=) Unknown g.44101563T>C - MAPT:c.*26T>C - MAPT_000109 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.*64G>A VUS r.(=) p.(=) Unknown g.44101601G>A - MAPT:c.*64G>A - MAPT_000110 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
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