All variants in the TRIP12 gene

Information The variants shown are described using the NM_001284214.1 transcript reference sequence.

120 entries on 2 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     
+/. _1i_6i_ c.(-14456_-50+5482)_(1270+2770_1684)del r.? p.? - pathogenic (dominant) g.(230679862_230698794)_(230781114_230801002)del - - - TRIP12_000031 - PubMed: Zhang 2017 - - Germline/De novo (untested) - - - - - Johan den Dunnen
-?/. - c.-49-18583T>C r.(=) p.(=) - likely benign g.230763427A>G - TRIP12(NM_001348323.3):c.-49-18583T>C - TRIP12_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. 1i_27i c.(?_-1)_(3990+1_3991-1)dup r.? p.? - likely pathogenic g.(?_230656869?_230744795_?)dup - chr2:230656869?_230744795+?dup - TRIP12_000069 - PubMed: Ganapathy 2019 - - Germline - - - - - Johan den Dunnen
+/. 1i c.-50+7702::? r.0? p.0? - pathogenic (dominant) g.[NC_000023.10:42353928_qter]delinspter_230778893inv - - 46,XX t(X;2)(p11.3;q36.3) TRIP12_000026 - PubMed: Bramswig 2017 - - DUPLICATE record - - - - - Johan den Dunnen
+/. 1i c.?::-50+7703 r.0? p.0? - pathogenic (dominant) g.pter_230778893delins[NC_000023.10:42353928_gterinv] - - 46,XX t(X;2)(p11.3;q36.3) TRIP12_000025 - PubMed: Bramswig 2017 - - Germline - - - - - Johan den Dunnen
+/. _1_42_ c.0 r.0 p.0 - pathogenic (dominant) g.(229076749_229152599)_(230801061_230811273)del - - - TRIP12_000030 deletion affecting FBXO36 (5'end), PID1, TRIP12 and DNER PubMed: Zhang 2017 - - De novo - - - - - Johan den Dunnen
+/. _1_42_ c.0 r.0 p.0 - pathogenic (dominant) g.(230489478_230513445)_(231457431_231508839)del - - - TRIP12_000030 deletion affecting SP140L, SP140, SLC16A14, FBXO36, SP110, TRIP12, SP100, DNER (5'end) PubMed: Zhang 2017 - - De novo - - - - - Johan den Dunnen
+/. _1_42_ c.0 r.0 p.0 - pathogenic (dominant) g.(?_230632269)_(230744796_?)del g.(?_229767553)_(229880080_?)del - - TRIP12_000030 1.6-Mb deletion 2q36.3-q37.1 including eight other OMIM-listed genes Journal: Brösse 2018, P694 - - Germline/De novo (untested) - - - - - Johan den Dunnen
-?/. - c.8A>G r.(?) p.(Asn3Ser) - likely benign g.230744788T>C - TRIP12(NM_001284214.1):c.8A>G (p.(Asn3Ser)) - TRIP12_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.14C>T r.(14c>u) p.(Pro5Leu) - pathogenic (dominant) g.230744782G>A g.229880066G>A - - TRIP12_000020 - PubMed: Bramswig 2017 - - Germline - 1/1500 cases - - - Johan den Dunnen
?/. - c.81C>G r.(?) p.(Asp27Glu) - VUS g.230744715G>C - TRIP12(NM_001348323.3):c.81C>G (p.(Asp27Glu)) - TRIP12_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.88A>G r.(?) p.(Ile30Val) - likely benign g.230744708T>C - TRIP12(NM_001284214.1):c.88A>G (p.(Ile30Val)) - TRIP12_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.99-2515C>T r.(=) p.(=) - likely benign g.230727762G>A - TRIP12(NM_001348323.3):c.99-2515C>T - TRIP12_000116 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.120A>C r.(?) p.(Lys40Asn) - likely benign g.230725226T>G - TRIP12(NM_001284214.1):c.120A>C (p.(Lys40Asn)) - TRIP12_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.315G>A r.(?) p.(Val105=) - likely benign g.230724200C>T g.229859484C>T TRIP12(NM_001348322.1):c.315G>A (p.V105=) - TRIP12_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.332C>T r.(?) p.(Ser111Phe) - VUS g.230724183G>A g.229859467G>A - - TRIP12_000051 mother wild type, father unknown PubMed: Minardi 2020 - - Germline/De novo (untested) - - - - - Francesca Bisulli
?/. - c.452G>T r.(?) p.(Ser151Ile) - VUS g.230724063C>A - TRIP12(NM_004238.3):c.326G>T (p.S109I) - TRIP12_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.458C>T r.(?) p.(Ser153Leu) - VUS g.230724057G>A g.229859341G>A NM_004238.2:c.332C>T - TRIP12_000060 mother wt PubMed: Minardi 2020 - - Germline - - - - - Francesca Bisulli
?/. - c.497C>T r.(?) p.(Ser166Phe) - VUS g.230724018G>A g.229859302G>A - - TRIP12_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.586_587del r.(586_587del) p.(Ser196Phefs*10) - pathogenic (dominant) g.230723932_230723933del g.229859216_229859217del NM_001284215.1:c.460_461delAG - TRIP12_000015 - PubMed: Lelieveld 2016 - - De novo - 1/2000 cases ID - - - Johan den Dunnen
+?/. - c.612del r.(?) p.(Ser205Leufs*47) - likely pathogenic g.230723905del - TRIP12(NM_001284214.1):c.612delG (p.(Ser205fs)) - TRIP12_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.680C>T r.(?) p.(Ser227Leu) - VUS g.230723835G>A - TRIP12(NM_001348325.2):c.680C>T (p.S227L) - TRIP12_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. - c.743C>G r.(?) p.(Ser248Cys) - VUS g.230723772G>C g.229859056G>C - - TRIP12_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.809A>G r.(?) p.(Gln270Arg) - VUS g.230723706T>C g.229858990T>C TRIP12(NM_001284214.1):c.809A>G (p.Q270R) - TRIP12_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.829C>T r.(?) p.(Arg277Cys) - VUS g.230723686G>A - TRIP12(NM_001348322.1):c.829C>T (p.R277C) - TRIP12_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.920G>A r.(?) p.(Arg307His) - likely benign g.230723595C>T g.229858879C>T TRIP12(NM_004238.1):c.794G>A (p.(Arg265His)), TRIP12(NM_004238.3):c.794G>A (p.R265H) - TRIP12_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.920G>A r.(?) p.(Arg307His) - likely benign g.230723595C>T - TRIP12(NM_004238.1):c.794G>A (p.(Arg265His)), TRIP12(NM_004238.3):c.794G>A (p.R265H) - TRIP12_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. - c.1138C>T r.(1138c>u) p.(Arg380*) - pathogenic (dominant) g.230701696G>A g.229836980G>A NM_001284215.1:c.1012C>T - TRIP12_000024 - PubMed: O'Roak 2012, PubMed: Bramswig 2017 - - De novo - - - - - Johan den Dunnen
?/. - c.1151T>C r.(?) p.(Leu384Pro) - VUS g.230701683A>G - - - TRIP12_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.1177C>T r.(?) p.(Arg393Cys) - VUS g.230701657G>A - TRIP12(NM_001348322.1):c.1177C>T (p.R393C) - TRIP12_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.1180C>T r.(?) p.(Arg394Ter) - likely pathogenic g.230701654G>A g.229836938G>A - - TRIP12_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.1180C>T r.(1180c>u) p.(Arg394*) - pathogenic (dominant) g.230701654G>A g.229836938G>A NM_001284215.1:c.1054C>T - TRIP12_000014 - PubMed: Bramswig 2017 - - Germline/De novo (untested) - 1/2000 cases ID - - - Johan den Dunnen
-?/. - c.1241G>A r.(?) p.(Arg414Gln) - likely benign g.230701593C>T g.229836877C>T TRIP12(NM_001284214.1):c.1241G>A (p.(Arg414Gln)), TRIP12(NM_004238.3):c.1115G>A (p.R372Q) - TRIP12_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.1241G>A r.(?) p.(Arg414Gln) - VUS g.230701593C>T g.229836877C>T TRIP12(NM_001284214.1):c.1241G>A (p.(Arg414Gln)), TRIP12(NM_004238.3):c.1115G>A (p.R372Q) - TRIP12_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.1270+22T>G r.(=) p.(=) - likely benign g.230701542A>C - TRIP12(NM_001348334.1):c.1205T>G (p.(Phe402Cys)) - TRIP12_000115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.1270+39C>G r.(=) p.(=) - VUS g.230701525G>C - TRIP12(NM_001348334.1):c.1222C>G (p.(Leu408Val)) - TRIP12_000114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.1279del r.1279del p.(Ser427Leufs*8) - pathogenic (dominant) g.230695548del g.229830832del - - TRIP12_000058 - PubMed: Lee 2019 ClinVar-000746578.1 - De novo - - - - - Johan den Dunnen
+?/. - c.1365_1368del r.(?) p.(Ala456GlyfsTer77) - likely pathogenic g.230693992_230693995del - TRIP12(NM_001348322.1):c.1365_1368delGGCA (p.A456Gfs*77) - TRIP12_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.1373dup r.(?) p.(Leu459Serfs*19) - likely pathogenic g.230693989dup g.229829273dup - - TRIP12_000016 - - - - Unknown - - - - - IMGAG
-?/. - c.1409G>A r.(?) p.(Arg470Gln) - likely benign g.230693950C>T g.229829234C>T - - TRIP12_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.1418A>G r.(?) p.(Gln473Arg) - VUS g.230693941T>C - TRIP12(NM_004238.3):c.1274A>G (p.Q425R) - TRIP12_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.1451-6_1451-5dup r.spl? p.? - likely benign g.230683236_230683237dup - TRIP12(NM_001348323.3):c.1451-6_1451-5dup - TRIP12_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1520T>C r.(?) p.(Ile507Thr) - likely benign g.230683159A>G - TRIP12(NM_001284214.1):c.1520T>C (p.(Ile507Thr)) - TRIP12_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.1769C>T r.(?) p.(Ala590Val) - VUS g.230679004G>A - TRIP12(NM_004238.3):c.1625C>T (p.A542V) - TRIP12_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.1823C>T r.(?) p.(Ala608Val) - likely benign g.230678950G>A - TRIP12(NM_004238.3):c.1679C>T (p.A560V) - TRIP12_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.1922C>T r.(?) p.(Thr641Met) - likely benign g.230678650G>A g.229813934G>A TRIP12(NM_004238.1):c.1778C>T (p.(Thr593Met)) - TRIP12_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1987-210_1987-209del r.(=) p.(=) - likely benign g.230676129_230676130del - TRIP12(NM_001348323.3):c.1987-210_1987-209del - TRIP12_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. - c.2065C>T r.(?) p.(Gln689Ter) - likely pathogenic g.230675752G>A g.229811036G>A TRIP12(NM_001284214.2):c.2065C>T (p.Q689*) - TRIP12_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.2093C>T r.(?) p.(Thr698Ile) - likely benign g.230675724G>A - TRIP12(NM_001284214.1):c.2093C>T (p.(Thr698Ile)) - TRIP12_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. - c.2104C>T r.(?) p.(Gln702*) - likely pathogenic g.230675713G>A - - - TRIP12_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.2234C>T r.(?) p.(Thr745Met) - likely benign g.230673073G>A - TRIP12(NM_001284214.1):c.2234C>T (p.(Thr745Met)) - TRIP12_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.2273G>A r.(?) p.(Cys758Tyr) - likely benign g.230673034C>T g.229808318C>T TRIP12(NM_001284214.1):c.2273G>A (p.(Cys758Tyr)), TRIP12(NM_001348325.2):c.2273G>A (p.C758Y) - TRIP12_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.2273G>A r.(?) p.(Cys758Tyr) - VUS g.230673034C>T - TRIP12(NM_001284214.1):c.2273G>A (p.(Cys758Tyr)), TRIP12(NM_001348325.2):c.2273G>A (p.C758Y) - TRIP12_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. - c.2273G>A r.(?) p.(Cys758Tyr) - VUS g.230673034C>T - TRIP12(NM_001284214.1):c.2273G>A (p.(Cys758Tyr)), TRIP12(NM_001348325.2):c.2273G>A (p.C758Y) - TRIP12_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.2426C>T r.(2426c>u) p.(Ala809Val) - pathogenic (dominant) g.230672494G>A g.229807778G>A NM_001284215.1:c.2300C>T - TRIP12_000021 - PubMed: Bramswig 2017 - - De novo - - - - - Johan den Dunnen
+/. - c.2426C>T r.(2426c>u) p.(Ala809Val) - pathogenic (dominant) g.230672494G>A g.229807778G>A NM_004238.2:c.2282C>T - TRIP12_000021 - PubMed: Zhang 2017 - - De novo - - - - - Johan den Dunnen
+?/. - c.2497-52_2497-39del r.(=) p.(=) - likely pathogenic g.230670557_230670570del - - - TRIP12_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.2505_2509dup r.(?) p.(Asp837ValfsTer17) - pathogenic g.230670506_230670510dup g.229805790_229805794dup TRIP12(NM_001284214.2):c.2505_2509dupTGAGG (p.D837Vfs*17) - TRIP12_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. - c.2509del r.(?) p.(Asp837ThrfsTer15) - pathogenic g.230670507del g.229805791del TRIP12(NM_001284214.2):c.2509delG (p.D837Tfs*15) - TRIP12_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/. 18i c.2569+4dup r.(2497_2569del) p.(Gln833Valfs*16) - pathogenic (dominant) g.230670443dup g.229805727dup NM_001284215.1:c.2524+3dupA - TRIP12_000019 - PubMed: Bramswig 2017 - - De novo - 1/311 cases ID - - - Johan den Dunnen
-?/. - c.2569+667C>T r.(=) p.(=) - likely benign g.230669779G>A - TRIP12(NM_001348323.3):c.2650+667C>T - TRIP12_000111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. - c.2602C>T r.(?) p.(Arg868*) - likely pathogenic g.230668911G>A - - - TRIP12_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.2626C>G r.(?) p.(Pro876Ala) - VUS g.230668887G>C g.229804171G>C TRIP12(NM_004238.1):c.2482C>G (p.(Pro828Ala)) - TRIP12_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.2722A>T r.(?) p.(Arg908Ter) - pathogenic g.230668791T>A g.229804075T>A TRIP12(NM_001284214.2):c.2722A>T (p.R908*) - TRIP12_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.2740A>G r.(?) p.(Ile914Val) - likely benign g.230668773T>C - TRIP12(NM_001284214.1):c.2740A>G (p.(Ile914Val)) - TRIP12_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.2799-10C>G r.(=) p.(=) - likely benign g.230668415G>C - TRIP12(NM_001348322.1):c.2880-10C>G - TRIP12_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.2879A>G r.(?) p.(Lys960Arg) - VUS g.230668325T>C - TRIP12(NM_004238.3):c.2735A>G (p.K912R) - TRIP12_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.2889T>G r.(?) p.(Asp963Glu) - VUS g.230668315A>C - TRIP12(NM_001284214.1):c.2889T>G (p.(Asp963Glu)) - TRIP12_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. - c.2917+3A>G r.spl? p.? - likely pathogenic g.230668284T>C - - - TRIP12_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.3123dup r.(3123dup) p.(Gly1042Argfs*5) - pathogenic (dominant) g.230666971dup g.229802255dup NM_004238.2:c.2979dupA - TRIP12_000028 - PubMed: Zhang 2017 - - De novo - - - - - Johan den Dunnen
+/. - c.3127C>T r.(?) p.(Arg1043Ter) - pathogenic g.230664098G>A g.229799382G>A - - TRIP12_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.3154C>T r.(?) p.(Arg1052*) - pathogenic g.230664071G>A - TRIP12(NM_001348325.2):c.3235C>T (p.R1079*) - TRIP12_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.3251C>T r.(?) p.(Ser1084Leu) - likely benign g.230663741G>A - - - TRIP12_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.3292T>C r.(?) p.(Trp1098Arg) - VUS g.230663700A>G - TRIP12(NM_004238.3):c.3148T>C (p.W1050R) - TRIP12_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. 24i c.3401+1G>A r.(3227_3401del) p.(Ala1076Glufs*16) - pathogenic (dominant) g.230663590C>T g.229798874C>T NM_001284215.1:c.3356+1G>A - TRIP12_000018 - PubMed: Bramswig 2017 - - De novo - 1/311 cases ID - - - Johan den Dunnen
-?/. - c.3449A>G r.(?) p.(Glu1150Gly) - likely benign g.230662500T>C - TRIP12(NM_001348323.3):c.3530A>G (p.(Glu1177Gly)) - TRIP12_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.3451C>T r.(?) p.(Arg1151Cys) - VUS g.230662498G>A - TRIP12(NM_001348323.3):c.3532C>T (p.(Arg1178Cys)) - TRIP12_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.3517G>A r.(?) p.(Ala1173Thr) - likely benign g.230662432C>T - TRIP12(NM_001284214.1):c.3517G>A (p.(Ala1173Thr)) - TRIP12_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.3590_3591del r.(3590_3591del) p.(Ser1197*) - pathogenic (dominant) g.230661451_230661452del g.229796735_229796736del NM_004238.2:c.3446_3447delCA - TRIP12_000029 - PubMed: Zhang 2017 - - De novo - - - - - Johan den Dunnen
+/. - c.3653_3656del r.(?) p.(Tyr1218*) - pathogenic g.230661389_230661392del - TRIP12(NM_001348325.2):c.3734_3737delATTT (p.Y1245*) - TRIP12_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/. 25i_42 c.(3735+97_3736-519)_(*221_*312)del r.? p.? - pathogenic (dominant) g.(230631958_230632049)_(230660565_230661210)del - - - TRIP12_000032 - PubMed: Zhang 2017 - - Germline/De novo (untested) - - - - - Johan den Dunnen
+/. 26i c.3887+1G>A r.spl p.? - pathogenic (dominant) g.230659894C>T g.229795178C>T NM_004238.2:c.3743+1G>A - TRIP12_000027 - PubMed: Zhang 2017 - - De novo - - - - - Johan den Dunnen
?/. - c.3929A>G r.(?) p.(Asn1310Ser) - VUS g.230657820T>C g.229793104T>C TRIP12(NM_001284214.1):c.3929A>G (p.N1310S) - TRIP12_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. - c.4028T>C r.(?) p.(Val1343Ala) - VUS g.230657721A>G - TRIP12(NM_001284214.1):c.4028T>C (p.(Val1295Ala)) - TRIP12_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.4047C>A r.(?) p.(Tyr1349Ter) - pathogenic g.230657702G>T g.229792986G>T TRIP12(NM_001284214.2):c.4047C>A (p.Y1349*) - TRIP12_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.4056T>C r.(?) p.(Val1352=) - likely benign g.230657693A>G - TRIP12(NM_001348322.1):c.4137T>C (p.V1379=) - TRIP12_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.4124A>T r.(?) p.(Asp1375Val) - VUS g.230656879T>A - - - TRIP12_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.4160_4162dup r.(?) p.(Asn1387_Val1388insAsp) - VUS g.230656754_230656756dup g.229792038_229792040dup TRIP12(NM_004238.1):c.4018_4019insATG (p.(Asn1339_Val1340insAsp)) - TRIP12_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.4228_4231dup r.(?) p.(Val1411GlyfsTer6) - pathogenic g.230656688_230656691dup g.229791972_229791975dup TRIP12(NM_001284214.2):c.4228_4231dupGCAG (p.V1411Gfs*6) - TRIP12_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.4391G>T r.(?) p.(Arg1464Ile) - VUS g.230655911C>A g.229791195C>A - - TRIP12_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 30i_39i c.(4462+92_4463-61)_(5727+158_5728-349)del r.? p.? - pathogenic (dominant) g.(230634390_230636077)_(230654539_230655748)del - - - TRIP12_000033 - PubMed: Zhang 2017 - - De novo - - - - - Johan den Dunnen
-?/. - c.4535T>G r.(?) p.(Phe1512Cys) - likely benign g.230654406A>C - TRIP12(NM_001284214.1):c.4535T>G (p.(Phe1512Cys)) - TRIP12_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.4545G>A r.(?) p.(Pro1515=) - likely benign g.230654396C>T g.229789680C>T TRIP12(NM_001284214.2):c.4545G>A (p.P1515=) - TRIP12_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.4772del r.(?) p.(Pro1591LeufsTer11) - VUS g.230652364del g.229787648del TRIP12(NM_004238.1):c.4628del (p.?) - TRIP12_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.4813G>C r.(?) p.(Asp1605His) - VUS g.230652322C>G g.229787606C>G - - TRIP12_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.4813G>C r.4813g>c p.(Asp1605His) - pathogenic (dominant) g.230652322C>G g.229787606C>G NM_001284215.1: c.4768G>C - TRIP12_000011 - PubMed: Bramswig 2017 - - De novo - 1/2000 cases ID - - - Johan den Dunnen
+?/. - c.4822C>T r.(?) p.(Arg1608*) - likely pathogenic g.230652313G>A g.229787597G>A - - TRIP12_000001 - - - - Unknown - - - - - IMGAG
+/. - c.4822C>T r.(4822c>u) p.(Arg1608*) - pathogenic (dominant) g.230652313G>A g.229787597G>A 4822C>T (Arg1608*) - TRIP12_000001 - Journal: Brösse 2018, P694 - - De novo - - - - - Johan den Dunnen
+?/. 33 c.4823G>A r.(?) p.(Arg1608Gln) ACMG likely pathogenic (dominant) g.230652312C>T g.229787596C>T - - TRIP12_000093 - - - - De novo - - - - - Camille Verebi
?/. - c.4914+6T>C r.(=) p.(=) - VUS g.230652215A>G g.229787499A>G TRIP12(NM_004238.1):c.4770+6T>C (p.(=)) - TRIP12_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
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