All variants in the DNAAF3 gene

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

237 entries on 3 pages. Showing entries 1 - 100.
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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.-5C>G r.(?) p.(=) - VUS g.55678021G>C - DNAAF3(NM_001256714.1):c.-5C>G - DNAAF3_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.131G>T r.(?) p.(Trp44Leu) - likely benign g.55677886C>A g.55166518C>A DNAAF3(NM_001256714.1):c.131G>T (p.W44L, p.(Trp44Leu)) - DNAAF3_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.131G>T r.(?) p.(Trp44Leu) - likely benign g.55677886C>A g.55166518C>A DNAAF3(NM_001256714.1):c.131G>T (p.W44L, p.(Trp44Leu)) - DNAAF3_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.138G>A r.(?) p.(Arg46=) - likely benign g.55677785C>T g.55166417C>T DNAAF3(NM_001256714.1):c.138G>A (p.(=)) - DNAAF3_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.147C>T r.(?) p.(Thr49=) - likely benign g.55677776G>A g.55166408G>A DNAAF3(NM_001256714.1):c.147C>T (p.T49=) - DNAAF3_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.369+80C>G r.(=) p.(=) - likely benign g.55677146G>C - DNAAF3(NM_001256716.2):c.66+4C>G - DNAAF3_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.464-5C>A r.spl? p.? - VUS g.55673663G>T g.55162295G>T DNAAF3(NM_001256715.2):c.323-5C>A - DNAAF3_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.464-4del r.spl? p.? - likely benign g.55673662del g.55162294del DNAAF3(NM_001256714.1):c.527-4delG (p.?) - DNAAF3_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.468A>G r.(?) p.(Arg156=) - benign g.55673654T>C g.55162286T>C DNAAF3(NM_001256714.1):c.531A>G (p.R177=), DNAAF3(NM_001256715.2):c.327A>G (p.(Arg109=)) - DNAAF3_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.468A>G r.(?) p.(Arg156=) - likely benign g.55673654T>C - DNAAF3(NM_001256714.1):c.531A>G (p.R177=), DNAAF3(NM_001256715.2):c.327A>G (p.(Arg109=)) - DNAAF3_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.651A>G r.(?) p.(Val217=) - benign g.55673164T>C g.55161796T>C DNAAF3(NM_001256714.1):c.714A>G (p.V238=) - DNAAF3_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.684_685dup r.(?) p.(Gln229Profs*6) - VUS g.55673132_55673133dup - DNAAF3(NM_001256715.2):c.543_544dup (p.(Gln182Profs*6)) - DNAAF3_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.807T>C r.(?) p.(Ala269=) - benign g.55672784A>G g.55161416A>G DNAAF3(NM_001256714.1):c.870T>C (p.A290=), DNAAF3(NM_001256716.2):c.504T>C (p.A168=) - DNAAF3_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.807T>C r.(?) p.(Ala269=) - benign g.55672784A>G g.55161416A>G DNAAF3(NM_001256714.1):c.870T>C (p.A290=), DNAAF3(NM_001256716.2):c.504T>C (p.A168=) - DNAAF3_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.931-14C>T r.(=) p.(=) - benign g.55672569G>A g.55161201G>A DNAAF3(NM_001256714.1):c.994-14C>T, DNAAF3(NM_001256716.2):c.628-14C>T - DNAAF3_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.931-14C>T r.(=) p.(=) - benign g.55672569G>A g.55161201G>A DNAAF3(NM_001256714.1):c.994-14C>T, DNAAF3(NM_001256716.2):c.628-14C>T - DNAAF3_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.972C>T r.(?) p.(Ile324=) - likely benign g.55672514G>A g.55161146G>A DNAAF3(NM_001256714.1):c.1035C>T (p.I345=) - DNAAF3_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.973G>A r.(?) p.(Ala325Thr) - likely benign g.55672513C>T g.55161145C>T DNAAF3(NM_001256714.1):c.1036G>A (p.A346T, p.(Ala278Thr)) - DNAAF3_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.973G>A r.(?) p.(Ala325Thr) - likely benign g.55672513C>T - DNAAF3(NM_001256714.1):c.1036G>A (p.A346T, p.(Ala278Thr)) - DNAAF3_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.973G>A r.(?) p.(Ala325Thr) - likely benign g.55672513C>T - DNAAF3(NM_001256714.1):c.1036G>A (p.A346T, p.(Ala278Thr)) - DNAAF3_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.992C>A r.(?) p.(Ala331Asp) - VUS g.55672494G>T - - - DNAAF3_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.994T>G r.(?) p.(Phe332Val) - VUS g.55672492A>C - DNAAF3(NM_001256714.1):c.1057T>G (p.F353V) - DNAAF3_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. - c.1016A>G r.(?) p.(Glu339Gly) - benign g.55672470T>C g.55161102T>C DNAAF3(NM_001256714.1):c.1079A>G (p.E360G), DNAAF3(NM_001256716.2):c.713A>G (p.E238G) - DNAAF3_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.1016A>G r.(?) p.(Glu339Gly) - benign g.55672470T>C g.55161102T>C DNAAF3(NM_001256714.1):c.1079A>G (p.E360G), DNAAF3(NM_001256716.2):c.713A>G (p.E238G) - DNAAF3_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1031C>T r.(?) p.(Thr344Met) - VUS g.55672455G>A - DNAAF3(NM_001256715.2):c.890C>T (p.(Thr297Met)) - DNAAF3_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1054-8A>G r.(=) p.(=) - likely benign g.55672151T>C - DNAAF3(NM_001256714.1):c.1117-8A>G (p.(=)) - DNAAF3_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1068C>T r.(?) p.(Ile356=) - likely benign g.55672129G>A g.55160761G>A DNAAF3(NM_001256714.1):c.1131C>T (p.I377=) - DNAAF3_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1080C>A r.(?) p.(Asn360Lys) - VUS g.55672117G>T - DNAAF3(NM_001256714.1):c.1143C>A (p.N381K) - DNAAF3_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.1101C>G r.(?) p.(Asp367Glu) - VUS g.55672096G>C - DNAAF3(NM_001256715.2):c.960C>G (p.(Asp320Glu)) - DNAAF3_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1138G>A r.(?) p.(Asp380Asn) - likely benign g.55672059C>T - DNAAF3(NM_001256715.2):c.997G>A (p.(Asp333Asn)) - DNAAF3_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1142T>C r.(?) p.(Leu381Pro) - likely benign g.55672055A>G g.55160687A>G DNAAF3(NM_001256714.1):c.1205T>C (p.L402P) - DNAAF3_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.1197G>A r.(?) p.(Pro399=) - benign g.55671374C>T g.55160006C>T DNAAF3(NM_001256714.1):c.1257G>A (p.P419=), DNAAF3(NM_001256716.2):c.894G>A (p.P298=) - DNAAF3_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.1197G>A r.(?) p.(Pro399=) - benign g.55671374C>T g.55160006C>T DNAAF3(NM_001256714.1):c.1257G>A (p.P419=), DNAAF3(NM_001256716.2):c.894G>A (p.P298=) - DNAAF3_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.1234= r.(=) p.(Asn412=) - benign g.55671337C>T g.55159969= DNAAF3(NM_001256714.1):c.1294G>A (p.D432N), DNAAF3(NM_001256716.2):c.931G>A (p.D311N) - DNAAF3_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.1234= r.(=) p.(Asn412=) - benign g.55671337C>T g.55159969= DNAAF3(NM_001256714.1):c.1294G>A (p.D432N), DNAAF3(NM_001256716.2):c.931G>A (p.D311N) - DNAAF3_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1304+10G>T r.(=) p.(=) - VUS g.55671257C>A g.55159889C>A DNAAF3(NM_001256714.1):c.1364+10G>T, DNAAF3(NM_001256715.2):c.1163+10G>T - DNAAF3_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1304+10G>T r.(=) p.(=) - likely benign g.55671257C>A - DNAAF3(NM_001256714.1):c.1364+10G>T, DNAAF3(NM_001256715.2):c.1163+10G>T - DNAAF3_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.1305-116del r.(=) p.(=) - benign g.55671094del g.55159726del DNAAF3(NM_001256716.2):c.1002-116delC - DNAAF3_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.1305-14C>T r.(=) p.(=) - benign g.55670989G>A g.55159621G>A DNAAF3(NM_001256714.1):c.1365-14C>T - DNAAF3_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.1380-8A>G r.(=) p.(=) - benign g.55670825T>C g.55159457T>C DNAAF3(NM_001256714.1):c.1440-8A>G, DNAAF3(NM_001256716.2):c.1077-8A>G - DNAAF3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.1380-8A>G r.(=) p.(=) - benign g.55670825T>C g.55159457T>C DNAAF3(NM_001256714.1):c.1440-8A>G, DNAAF3(NM_001256716.2):c.1077-8A>G - DNAAF3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.1412dup r.(?) p.(Phe473IlefsTer52) - likely pathogenic g.55670785dup g.55159417dup DNAAF3(NM_001256716.2):c.1109dupA (p.F372Ifs*52) - DNAAF3_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.1412dup r.(?) p.(Phe473IlefsTer52) - pathogenic g.55670785dup g.55159417dup DNAAF3(NM_001256716.2):c.1109dupA (p.F372Ifs*52) - DNAAF3_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.1425C>T r.(?) p.(Thr475=) - likely benign g.55670772G>A - DNAAF3(NM_001256716.1):c.1122C>T (p.T374=) - DNAAF3_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1435G>C r.(?) p.(Glu479Gln) - VUS g.55670762C>G - DNAAF3(NM_001256714.1):c.1495G>C (p.E499Q) - DNAAF3_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.1495G>C r.(?) p.(Ala499Pro) - VUS g.55670702C>G g.55159334C>G DNAAF3(NM_001256716.1):c.1192G>C (p.A398P) - DNAAF3_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.1530C>A r.(?) p.(Gly510=) - likely benign g.55670667G>T - DNAAF3(NM_001256716.1):c.1227C>A (p.G409=) - DNAAF3_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1546G>A r.(?) p.(Val516Met) - likely benign g.55670651C>T g.55159283C>T DNAAF3(NM_001256714.1):c.1606G>A (p.V536M), DNAAF3(NM_001256715.2):c.1405G>A (p.(Val469Met)) - DNAAF3_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1546G>A r.(?) p.(Val516Met) - likely benign g.55670651C>T g.55159283C>T DNAAF3(NM_001256714.1):c.1606G>A (p.V536M), DNAAF3(NM_001256715.2):c.1405G>A (p.(Val469Met)) - DNAAF3_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1555G>A r.(?) p.(Gly519Arg) - likely benign g.55670642C>T g.55159274C>T - - DNAAF3_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.1684G>A r.(?) p.(Gly562Ser) - likely benign g.55670513C>T g.55159145C>T DNAAF3(NM_001256716.1):c.1381G>A (p.G461S) - DNAAF3_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1730C>T r.(?) p.(Pro577Leu) - likely benign g.55670467G>A - DNAAF3(NM_001256714.1):c.1790C>T (p.(Pro597Leu)) - DNAAF3_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.*1291del r.(?) p.(=) - likely benign g.55669140del g.55157772del - - DNAAF3_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.*1357C>T r.(=) p.(=) - likely benign g.55669073G>A g.55157705G>A - - DNAAF3_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.*1375C>A r.(=) p.(=) - benign g.55669055G>T g.55157687G>T - - DNAAF3_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.*1426C>T r.(=) p.(=) - benign g.55669004G>A g.55157636G>A - - TNNI3_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.*1438C>A r.(=) p.(=) - benign g.55668992G>T g.55157624G>T - - TNNI3_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. - c.*1473A>G r.(=) p.(=) - likely pathogenic g.55668957T>C g.55157589T>C TNNI3(NM_000363.4):c.1A>G (p.M1?), TNNI3(NM_000363.5):c.1A>G (p.M1?) - DNAAF3_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.*1473A>G r.(=) p.(=) - likely pathogenic g.55668957T>C - TNNI3(NM_000363.4):c.1A>G (p.M1?), TNNI3(NM_000363.5):c.1A>G (p.M1?) - DNAAF3_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.*1611T>C r.(=) p.(=) - benign g.55668819A>G g.55157451A>G TNNI3(NM_000363.4):c.11+128T>C - TNNI3_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.*1627A>G r.(=) p.(=) - benign g.55668803T>C g.55157435T>C - - DNAAF3_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.*1704_*1707dup r.(=) p.(=) - benign g.55668725_55668728dup g.55157357_55157360dup TNNI3(NM_000363.4):c.12-50_12-47dupACAG - DNAAF3_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.*1708_*1711dup r.(=) p.(=) - benign g.55668719_55668722dup g.55157351_55157354dup - - TNNI3_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.*1726_*1727delinsT r.(=) p.(=) - benign g.55668703_55668704delinsA g.55157335_55157336delinsA TNNI3(NM_000363.4):c.12-28_12-27delCCinsT - TNNI3_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.*1747del r.(?) p.(=) - benign g.55668684del g.55157316del TNNI3(NM_000363.4):c.12-7delC, TNNI3(NM_000363.5):c.12-7delC - TNNI3_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.*1747del r.(?) p.(=) - benign g.55668684del g.55157316del TNNI3(NM_000363.4):c.12-7delC, TNNI3(NM_000363.5):c.12-7delC - TNNI3_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.*1747del r.(?) p.(=) - likely benign g.55668684del - TNNI3(NM_000363.4):c.12-7delC, TNNI3(NM_000363.5):c.12-7delC - TNNI3_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.*1901G>C r.(=) p.(=) - benign g.55668529C>G g.55157161C>G - - DNAAF3_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.*1919C>G r.(=) p.(=) - benign g.55668511G>C g.55157143G>C - - DNAAF3_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.*1921T>A r.(=) p.(=) - benign g.55668509A>T g.55157141A>T TNNI3(NM_000363.4):c.25-8T>A, TNNI3(NM_000363.5):c.25-8T>A - TNNI3_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.*1921T>A r.(=) p.(=) - benign g.55668509A>T g.55157141A>T TNNI3(NM_000363.4):c.25-8T>A, TNNI3(NM_000363.5):c.25-8T>A - TNNI3_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.*1921T>A r.(=) p.(=) - benign g.55668509A>T g.55157141A>T TNNI3(NM_000363.4):c.25-8T>A, TNNI3(NM_000363.5):c.25-8T>A - TNNI3_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.*1921T>A r.(=) p.(=) - benign g.55668509A>T g.55157141A>T TNNI3(NM_000363.4):c.25-8T>A, TNNI3(NM_000363.5):c.25-8T>A - TNNI3_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.*1925C>T r.(=) p.(=) - likely benign g.55668505G>A g.55157137G>A TNNI3(NM_000363.4):c.25-4C>T, TNNI3(NM_000363.5):c.25-4C>T - TNNI3_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.*1925C>T r.(=) p.(=) - likely benign g.55668505G>A g.55157137G>A TNNI3(NM_000363.4):c.25-4C>T, TNNI3(NM_000363.5):c.25-4C>T - TNNI3_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.*1925C>T r.(=) p.(=) - benign g.55668505G>A - TNNI3(NM_000363.4):c.25-4C>T, TNNI3(NM_000363.5):c.25-4C>T - TNNI3_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.*1929G>T r.(=) p.(=) - VUS g.55668501C>A - TNNI3(NM_000363.5):c.25G>T (p.A9S) - DNAAF3_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.*1941C>A r.(=) p.(=) - VUS g.55668489G>T - TNNI3(NM_000363.5):c.37C>A (p.R13S) - DNAAF3_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.*1949A>C r.(=) p.(=) - likely benign g.55668481T>G g.55157113T>G TNNI3(NM_000363.5):c.45A>C (p.A15=) - DNAAF3_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.*1959A>G r.(=) p.(=) - likely benign g.55668471T>C g.55157103T>C TNNI3(NM_000363.4):c.55A>G (p.I19V) - DNAAF3_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.*1972C>G r.(=) p.(=) - VUS g.55668458G>C g.55157090G>C TNNI3(NM_000363.4):c.68C>G (p.S23C) - TNNI3_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.*1987C>T r.(=) p.(=) - VUS g.55668443G>A - - - DNAAF3_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. - c.*1992G>A r.(=) p.(=) - likely pathogenic g.55668438C>T g.55157070C>T TNNI3(NM_000363.4):c.88G>A (p.A30T) - TNNI3_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.*1993C>A r.(=) p.(=) - VUS g.55668437G>T - TNNI3(NM_000363.4):c.89C>A (p.A30D) - DNAAF3_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.*2020G>T r.(=) p.(=) - VUS g.55668410C>A - - - DNAAF3_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.*2025_*2026insG r.(=) p.(=) - likely benign g.55668404_55668405insC g.55157036_55157037insC - - DNAAF3_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.*2033G>A r.(=) p.(=) - benign g.55668397C>T g.55157029C>T TNNI3(NM_000363.4):c.108+21G>A - TNNI3_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.*2033G>A r.(=) p.(=) - benign g.55668397C>T g.55157029C>T TNNI3(NM_000363.4):c.108+21G>A - TNNI3_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.*2046C>T r.(=) p.(=) - likely benign g.55668384G>A g.55157016G>A - - DNAAF3_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.*2101G>A r.(=) p.(=) - benign g.55668329C>T g.55156961C>T - - DNAAF3_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.*2120G>C r.(=) p.(=) - benign g.55668310C>G g.55156942C>G - - DNAAF3_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.*2381C>T r.(=) p.(=) - likely benign g.55668049G>A g.55156681G>A - - TNNI3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.*2391C>T r.(=) p.(=) - likely benign g.55668039G>A g.55156671G>A - - DNAAF3_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.*2401C>A r.(=) p.(=) - benign g.55668029G>T g.55156661G>T TNNI3(NM_000363.4):c.109-17C>A, TNNI3(NM_000363.5):c.109-17C>A - TNNI3_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.*2401C>A r.(=) p.(=) - likely benign g.55668029G>T g.55156661G>T TNNI3(NM_000363.4):c.109-17C>A, TNNI3(NM_000363.5):c.109-17C>A - TNNI3_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.*2401C>A r.(=) p.(=) - benign g.55668029G>T g.55156661G>T TNNI3(NM_000363.4):c.109-17C>A, TNNI3(NM_000363.5):c.109-17C>A - TNNI3_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.*2401C>A r.(=) p.(=) - benign g.55668029G>T g.55156661G>T TNNI3(NM_000363.4):c.109-17C>A, TNNI3(NM_000363.5):c.109-17C>A - TNNI3_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.*2401C>A r.(=) p.(=) - benign g.55668029G>T g.55156661G>T TNNI3(NM_000363.4):c.109-17C>A, TNNI3(NM_000363.5):c.109-17C>A - TNNI3_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.*2410C>A r.(=) p.(=) - likely benign g.55668020G>T - - - DNAAF3_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.*2423dup r.(?) p.(=) - pathogenic g.55668012dup g.55156644dup TNNI3(NM_000363.4):c.114dupA (p.S39Ifs*2) - DNAAF3_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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