| 11652654 | CV276188 | single nucleotide variant | NM_138959.3(VANGL1):c.-24C>T | Caudal regression sequence [RCV002469102]|Neural tube defect [RCV000306190] | uncertain significance | 1 | 115651390 | 115651390 | Human | 3 | name |
| 11591672 | CV276199 | single nucleotide variant | NM_138959.3(VANGL1):c.*47G>T | Neural tube defect [RCV000385751]|Sacral defect with anterior meningocele [RCV000331205] | benign|likely benign|uncertain significance | 1 | 115691426 | 115691426 | Human | 3 | name |
| 11584275 | CV276461 | single nucleotide variant | NM_138959.3(VANGL1):c.*83T>A | Neural tube defect [RCV000327561]|Sacral defect with anterior meningocele [RCV000272536]|not provided [RCV001642897] | benign|likely benign | 1 | 115691462 | 115691462 | Human | 3 | name |
| 28889579 | CV862034 | single nucleotide variant | NM_138959.3(VANGL1):c.*25A>T | Neural tube defect [RCV001099482]|Sacral defect with anterior meningocele [RCV001101473] | benign|uncertain significance | 1 | 115691404 | 115691404 | Human | 3 | name |
| 11587367 | CV275973 | single nucleotide variant | NM_138959.3(VANGL1):c.-226G>C | Neural tube defect [RCV000386621]|Sacral defect with anterior meningocele [RCV000294683]|not provided [RCV004714648] | benign|likely benign | 1 | 115641998 | 115641998 | Human | 3 | name |
| 11588020 | CV275984 | single nucleotide variant | NM_138959.3(VANGL1):c.*301G>C | Neural tube defect [RCV000403404]|Sacral defect with anterior meningocele [RCV000299468] | uncertain significance | 1 | 115691680 | 115691680 | Human | 3 | name |
| 11655453 | CV275985 | single nucleotide variant | NM_138959.3(VANGL1):c.*483A>G | Neural tube defect [RCV000380119]|Sacral defect with anterior meningocele [RCV000325513] | uncertain significance | 1 | 115691862 | 115691862 | Human | 3 | name |
| 11658356 | CV275990 | single nucleotide variant | NM_138959.3(VANGL1):c.*929G>A | Neural tube defect [RCV000348267]|Sacral defect with anterior meningocele [RCV000394155] | uncertain significance | 1 | 115692308 | 115692308 | Human | 3 | name |
| 11588407 | CV276186 | single nucleotide variant | NM_138959.3(VANGL1):c.-145G>T | Neural tube defect [RCV000394025]|Sacral defect with anterior meningocele [RCV000302635] | uncertain significance | 1 | 115642079 | 115642079 | Human | 3 | name |
| 11585903 | CV276201 | single nucleotide variant | NM_138959.3(VANGL1):c.*300C>T | Neural tube defect [RCV000283941]|Sacral defect with anterior meningocele [RCV000338937]|not provided [RCV004713505] | benign|likely benign | 1 | 115691679 | 115691679 | Human | 3 | name |
| 11592097 | CV276202 | single nucleotide variant | NM_138959.3(VANGL1):c.*313A>G | Neural tube defect [RCV000395005]|Sacral defect with anterior meningocele [RCV000335606]|not provided [RCV001610791] | benign|likely benign | 1 | 115691692 | 115691692 | Human | 3 | name |
| 11584518 | CV276204 | single nucleotide variant | NM_138959.3(VANGL1):c.*383C>G | Neural tube defect [RCV000274308]|Sacral defect with anterior meningocele [RCV000310701] | benign|likely benign | 1 | 115691762 | 115691762 | Human | 3 | name |
| 11585664 | CV276205 | single nucleotide variant | NM_138959.3(VANGL1):c.*634T>C | Neural tube defect [RCV000377057]|Sacral defect with anterior meningocele [RCV000282686] | uncertain significance | 1 | 115692013 | 115692013 | Human | 3 | name |
| 11593809 | CV276316 | single nucleotide variant | NM_138959.3(VANGL1):c.-224C>A | Neural tube defect [RCV000352634]|Sacral defect with anterior meningocele [RCV000405114]|not provided [RCV004714649] | benign|likely benign | 1 | 115642000 | 115642000 | Human | 3 | name |
| 11653933 | CV276331 | single nucleotide variant | NM_138959.3(VANGL1):c.*340C>G | Neural tube defect [RCV000314170]|Sacral defect with anterior meningocele [RCV000368825] | uncertain significance | 1 | 115691719 | 115691719 | Human | 3 | name |
| 11583983 | CV276335 | single nucleotide variant | NM_138959.3(VANGL1):c.*416G>A | Neural tube defect [RCV000365399]|Sacral defect with anterior meningocele [RCV000270529]|not provided [RCV004714651] | benign|likely benign | 1 | 115691795 | 115691795 | Human | 3 | name |
| 11583523 | CV276336 | single nucleotide variant | NM_138959.3(VANGL1):c.*505A>G | Neural tube defect [RCV000267424]|Sacral defect with anterior meningocele [RCV000322549]|not provided [RCV004714652] | benign|likely benign | 1 | 115691884 | 115691884 | Human | 3 | name |
| 11592300 | CV276337 | single nucleotide variant | NM_138959.3(VANGL1):c.*694C>A | Neural tube defect [RCV000373436]|Sacral defect with anterior meningocele [RCV000337527]|not provided [RCV004714653] | benign|likely benign | 1 | 115692073 | 115692073 | Human | 3 | name |
| 11587218 | CV276339 | single nucleotide variant | NM_138959.3(VANGL1):c.*758G>A | Neural tube defect [RCV000405192]|Sacral defect with anterior meningocele [RCV000293393] | uncertain significance | 1 | 115692137 | 115692137 | Human | 3 | name |
| 11653137 | CV276345 | duplication | NM_138959.3(VANGL1):c.*932dup | Caudal regression sequence [RCV002469105]|Neural tube defect [RCV000308801] | uncertain significance | 1 | 115692310 | 115692311 | Human | 3 | name |
| 11648152 | CV276446 | single nucleotide variant | NM_138959.3(VANGL1):c.-171C>A | Neural tube defect [RCV000280201]|Sacral defect with anterior meningocele [RCV000337590] | uncertain significance | 1 | 115642053 | 115642053 | Human | 3 | name |
| 11594463 | CV276447 | single nucleotide variant | NM_138959.3(VANGL1):c.-115G>C | Neural tube defect [RCV000359740]|Sacral defect with anterior meningocele [RCV000394028] | benign|uncertain significance | 1 | 115651299 | 115651299 | Human | 3 | name |
| 11592779 | CV276462 | single nucleotide variant | NM_138959.3(VANGL1):c.*217C>T | Neural tube defect [RCV000342535]|Sacral defect with anterior meningocele [RCV000378537]|not provided [RCV004714650] | benign|likely benign | 1 | 115691596 | 115691596 | Human | 3 | name |
| 11585176 | CV276463 | single nucleotide variant | NM_138959.3(VANGL1):c.*707C>T | Neural tube defect [RCV000352714]|Sacral defect with anterior meningocele [RCV000278992] | benign|likely benign | 1 | 115692086 | 115692086 | Human | 3 | name |
| 28883148 | CV862015 | single nucleotide variant | NM_138959.3(VANGL1):c.-239G>A | Neural tube defect [RCV001097405]|Sacral defect with anterior meningocele [RCV001101153]|not provided [RCV004711507] | benign|likely benign | 1 | 115641985 | 115641985 | Human | 3 | name |
| 28878781 | CV862035 | single nucleotide variant | NM_138959.3(VANGL1):c.*229T>A | Neural tube defect [RCV001096018]|Sacral defect with anterior meningocele [RCV001101474] | uncertain significance | 1 | 115691608 | 115691608 | Human | 3 | name |
| 28878784 | CV862036 | single nucleotide variant | NM_138959.3(VANGL1):c.*234A>G | Neural tube defect [RCV001096019]|Sacral defect with anterior meningocele [RCV001096020] | uncertain significance | 1 | 115691613 | 115691613 | Human | 3 | name |
| 28879177 | CV862037 | single nucleotide variant | NM_138959.3(VANGL1):c.*801A>C | Neural tube defect [RCV001096140]|Sacral defect with anterior meningocele [RCV001101566] | uncertain significance | 1 | 115692180 | 115692180 | Human | 3 | name |
| 28879181 | CV862038 | single nucleotide variant | NM_138959.3(VANGL1):c.*922C>T | Neural tube defect [RCV001096141]|Sacral defect with anterior meningocele [RCV001096142] | benign|uncertain significance | 1 | 115692301 | 115692301 | Human | 3 | name |
| 11579597 | CV275979 | single nucleotide variant | NM_138959.3(VANGL1):c.812+9C>T | Neural tube defect [RCV000307742]|Sacral defect with anterior meningocele [RCV000396552] | likely benign|uncertain significance | 1 | 115664277 | 115664277 | Human | 3 | name |
| 11590603 | CV275991 | deletion | NM_138959.3(VANGL1):c.*1183del | Caudal regression sequence [RCV002469106]|Neural tube defect [RCV000356796] | likely benign | 1 | 115692562 | 115692562 | Human | 3 | name |
| 11586399 | CV275992 | single nucleotide variant | NM_138959.3(VANGL1):c.*1545A>G | Neural tube defect [RCV000404102]|Sacral defect with anterior meningocele [RCV000287768] | likely benign|uncertain significance | 1 | 115692924 | 115692924 | Human | 3 | name |
| 11655595 | CV275993 | single nucleotide variant | NM_138959.3(VANGL1):c.*2107A>G | Neural tube defect [RCV000381342]|Sacral defect with anterior meningocele [RCV000326764] | uncertain significance | 1 | 115693486 | 115693486 | Human | 3 | name |
| 11585821 | CV276005 | single nucleotide variant | NM_138959.3(VANGL1):c.*2187T>C | Neural tube defect [RCV000283743]|Sacral defect with anterior meningocele [RCV000378304] | benign|likely benign | 1 | 115693566 | 115693566 | Human | 3 | name |
| 11585648 | CV276006 | single nucleotide variant | NM_138959.3(VANGL1):c.*2695C>A | Neural tube defect [RCV000335015]|Sacral defect with anterior meningocele [RCV000282356] | uncertain significance | 1 | 115694074 | 115694074 | Human | 3 | name |
| 11587460 | CV276011 | single nucleotide variant | NM_138959.3(VANGL1):c.*2865A>G | Neural tube defect [RCV000373261]|Sacral defect with anterior meningocele [RCV000295191] | benign|likely benign|uncertain significance | 1 | 115694244 | 115694244 | Human | 3 | name |
| 11658829 | CV276018 | single nucleotide variant | NM_138959.3(VANGL1):c.*2992G>A | Neural tube defect [RCV000402613]|Sacral defect with anterior meningocele [RCV000352331] | uncertain significance | 1 | 115694371 | 115694371 | Human | 3 | name |
| 11589694 | CV276019 | single nucleotide variant | NM_138959.3(VANGL1):c.*3023G>T | Neural tube defect [RCV000312552]|Sacral defect with anterior meningocele [RCV000346349]|not provided [RCV004714657] | benign|likely benign | 1 | 115694402 | 115694402 | Human | 3 | name |
| 11645725 | CV276020 | single nucleotide variant | NM_138959.3(VANGL1):c.*3289A>G | Neural tube defect [RCV000363554]|Sacral defect with anterior meningocele [RCV000266841] | uncertain significance | 1 | 115694668 | 115694668 | Human | 3 | name |
| 11582346 | CV276023 | single nucleotide variant | NM_138959.3(VANGL1):c.*3417C>T | Neural tube defect [RCV000374888]|Sacral defect with anterior meningocele [RCV000259302]|not provided [RCV004714658] | benign|likely benign | 1 | 115694796 | 115694796 | Human | 3 | name |
| 11587586 | CV276024 | single nucleotide variant | NM_138959.3(VANGL1):c.*3544C>T | Neural tube defect [RCV000295859]|Sacral defect with anterior meningocele [RCV000329868] | benign|likely benign | 1 | 115694923 | 115694923 | Human | 3 | name |
| 11659267 | CV276029 | deletion | NM_138959.3(VANGL1):c.*4089del | Caudal regression sequence [RCV002469109]|Neural tube defect [RCV000398999] | likely benign | 1 | 115695467 | 115695467 | Human | 3 | name |
| 11648344 | CV276030 | single nucleotide variant | NM_138959.3(VANGL1):c.*5022T>G | Neural tube defect [RCV000281230]|Sacral defect with anterior meningocele [RCV000338589] | uncertain significance | 1 | 115696401 | 115696401 | Human | 3 | name |
| 11647761 | CV276031 | single nucleotide variant | NM_138959.3(VANGL1):c.*5413A>C | Neural tube defect [RCV000374939]|Sacral defect with anterior meningocele [RCV000278038] | uncertain significance | 1 | 115696792 | 115696792 | Human | 3 | name |
| 11665379 | CV276037 | single nucleotide variant | NM_138959.3(VANGL1):c.*5751A>G | Catecholaminergic polymorphic ventricular tachycardia [RCV000404017]|Neural tube defect [RCV000302151]|Sacral defect with anterior meningocele [RCV000268122]|not provided [RCV004710707] | benign|likely benign | 1 | 115697130 | 115697130 | Human | 5 | name |
| 11658633 | CV276052 | single nucleotide variant | NM_138959.3(VANGL1):c.*5993C>G | Neural tube defect [RCV000350443]|Sacral defect with anterior meningocele [RCV000384045] | uncertain significance | 1 | 115697372 | 115697372 | Human | 3 | name |
| 11587956 | CV276053 | single nucleotide variant | NM_138959.3(VANGL1):c.*6128T>C | Neural tube defect [RCV000298935]|Sacral defect with anterior meningocele [RCV000353770] | uncertain significance | 1 | 115697507 | 115697507 | Human | 3 | name |
| 11583293 | CV276221 | single nucleotide variant | NM_138959.3(VANGL1):c.*1043A>G | Neural tube defect [RCV000360154]|Sacral defect with anterior meningocele [RCV000265497] | benign|uncertain significance | 1 | 115692422 | 115692422 | Human | 3 | name |
| 11651028 | CV276222 | single nucleotide variant | NM_138959.3(VANGL1):c.*1456T>C | Neural tube defect [RCV000296278]|Sacral defect with anterior meningocele [RCV000372048] | uncertain significance | 1 | 115692835 | 115692835 | Human | 3 | name |
| 11582351 | CV276230 | single nucleotide variant | NM_138959.3(VANGL1):c.*1772A>G | Neural tube defect [RCV000259371]|Sacral defect with anterior meningocele [RCV000354304] | benign|likely benign|uncertain significance | 1 | 115693151 | 115693151 | Human | 3 | name |
| 11650001 | CV276231 | single nucleotide variant | NM_138959.3(VANGL1):c.*2099G>T | Neural tube defect [RCV000290494]|Sacral defect with anterior meningocele [RCV000385073] | uncertain significance | 1 | 115693478 | 115693478 | Human | 3 | name |
| 11589173 | CV276234 | single nucleotide variant | NM_138959.3(VANGL1):c.*2489C>T | Neural tube defect [RCV000363286]|Sacral defect with anterior meningocele [RCV000308585]|not provided [RCV004714656] | benign|likely benign | 1 | 115693868 | 115693868 | Human | 3 | name |
| 11590595 | CV276235 | single nucleotide variant | NM_138959.3(VANGL1):c.*2581G>A | Neural tube defect [RCV000375209]|Sacral defect with anterior meningocele [RCV000320547]|not provided [RCV004713507] | benign|likely benign | 1 | 115693960 | 115693960 | Human | 3 | name |
| 11588789 | CV276236 | single nucleotide variant | NM_138959.3(VANGL1):c.*3336G>A | Neural tube defect [RCV000357960]|Sacral defect with anterior meningocele [RCV000305572] | benign|likely benign | 1 | 115694715 | 115694715 | Human | 3 | name |
| 11645405 | CV276237 | duplication | NM_138959.3(VANGL1):c.*3407dup | Caudal regression sequence [RCV002469107]|Neural tube defect [RCV000265220] | uncertain significance | 1 | 115694785 | 115694786 | Human | 3 | name |
| 11586989 | CV276244 | single nucleotide variant | NM_138959.3(VANGL1):c.*3598A>G | Neural tube defect [RCV000291788]|Sacral defect with anterior meningocele [RCV000383849] | benign|uncertain significance | 1 | 115694977 | 115694977 | Human | 3 | name |
| 11657824 | CV276246 | single nucleotide variant | NM_138959.3(VANGL1):c.*3666G>A | Neural tube defect [RCV000406303]|Sacral defect with anterior meningocele [RCV000344347] | uncertain significance | 1 | 115695045 | 115695045 | Human | 3 | name |
| 11651291 | CV276247 | single nucleotide variant | NM_138959.3(VANGL1):c.*4463A>G | Neural tube defect [RCV000355194]|Sacral defect with anterior meningocele [RCV000297974] | uncertain significance | 1 | 115695842 | 115695842 | Human | 3 | name |
| 11665509 | CV276248 | single nucleotide variant | NM_138959.3(VANGL1):c.*4478C>T | Catecholaminergic polymorphic ventricular tachycardia [RCV000287045]|Neural tube defect [RCV000276840]|Sacral defect with anterior meningocele [RCV000334225]|not provided [RCV004710702] | benign|likely benign | 1 | 115695857 | 115695857 | Human | 5 | name |
| 11649308 | CV276249 | single nucleotide variant | NM_138959.3(VANGL1):c.*4840T>C | Caudal regression sequence [RCV002469111]|Neural tube defect [RCV000286429] | uncertain significance | 1 | 115696219 | 115696219 | Human | 3 | name |
| 11577747 | CV276251 | single nucleotide variant | NM_138959.3(VANGL1):c.*5267G>T | Neural tube defect [RCV000266612]|Sacral defect with anterior meningocele [RCV000363773] | uncertain significance | 1 | 115696646 | 115696646 | Human | 3 | name |
| 11587552 | CV276252 | single nucleotide variant | NM_138959.3(VANGL1):c.*5444C>G | Neural tube defect [RCV000295789]|Sacral defect with anterior meningocele [RCV000348410] | benign|likely benign | 1 | 115696823 | 115696823 | Human | 3 | name |
| 11665787 | CV276256 | single nucleotide variant | NM_138959.3(VANGL1):c.*5841A>T | Catecholaminergic polymorphic ventricular tachycardia [RCV000294262]|Neural tube defect [RCV000372479]|Sacral defect with anterior meningocele [RCV000320050]|not provided [RCV004710708] | benign|likely benign | 1 | 115697220 | 115697220 | Human | 5 | name |
| 11650535 | CV276257 | single nucleotide variant | NM_138959.3(VANGL1):c.*5929G>A | Neural tube defect [RCV000293286]|Sacral defect with anterior meningocele [RCV000389909] | uncertain significance | 1 | 115697308 | 115697308 | Human | 3 | name |
| 11592479 | CV276261 | single nucleotide variant | NM_138959.3(VANGL1):c.*6084C>G | Neural tube defect [RCV000405345]|Sacral defect with anterior meningocele [RCV000339100] | benign|uncertain significance | 1 | 115697463 | 115697463 | Human | 3 | name |
| 11666314 | CV276262 | single nucleotide variant | NM_138959.3(VANGL1):c.*6321T>G | Catecholaminergic polymorphic ventricular tachycardia [RCV000398110]|Neural tube defect [RCV000333757]|Sacral defect with anterior meningocele [RCV000369668]|not provided [RCV004710713] | benign|likely benign | 1 | 115697700 | 115697700 | Human | 5 | name |
| 11665538 | CV276263 | single nucleotide variant | NM_138959.3(VANGL1):c.*6721A>G | Catecholaminergic polymorphic ventricular tachycardia [RCV000301457]|Neural tube defect [RCV000406689]|Sacral defect with anterior meningocele [RCV000278543]|not provided [RCV004710714] | benign|likely benign | 1 | 115698100 | 115698100 | Human | 5 | name |
| 11666360 | CV276264 | duplication | NM_138959.3(VANGL1):c.*6763dup | Catecholaminergic polymorphic ventricular tachycardia [RCV000358564]|Caudal regression sequence [RCV002469116]|Neural tube defect [RCV000406526] | likely benign | 1 | 115698135 | 115698136 | Human | 5 | name |
| 11582814 | CV276364 | single nucleotide variant | NM_138959.3(VANGL1):c.*1277C>T | Neural tube defect [RCV000317436]|Sacral defect with anterior meningocele [RCV000262291]|not provided [RCV004713506] | benign|likely benign | 1 | 115692656 | 115692656 | Human | 5 | name |
| 11582814 | CV276364 | single nucleotide variant | NM_138959.3(VANGL1):c.*1277C>T | Neural tube defect [RCV000317436]|Sacral defect with anterior meningocele [RCV000262291]|not provided [RCV004713506] | benign|likely benign | 1 | 115692656 | 115692657 | Human | 5 | name |
| 11656170 | CV276379 | single nucleotide variant | NM_138959.3(VANGL1):c.*1483C>T | Neural tube defect [RCV000385828]|Sacral defect with anterior meningocele [RCV000331285] | uncertain significance | 1 | 115692862 | 115692862 | Human | 3 | name |
| 11650219 | CV276383 | single nucleotide variant | NM_138959.3(VANGL1):c.*1516A>C | Neural tube defect [RCV000346391]|Sacral defect with anterior meningocele [RCV000291510] | uncertain significance | 1 | 115692895 | 115692895 | Human | 3 | name |
| 11587998 | CV276384 | single nucleotide variant | NM_138959.3(VANGL1):c.*1749G>T | Neural tube defect [RCV000396723]|Sacral defect with anterior meningocele [RCV000299259]|not provided [RCV004714654] | benign|likely benign | 1 | 115693128 | 115693128 | Human | 3 | name |
| 11580443 | CV276385 | single nucleotide variant | NM_138959.3(VANGL1):c.*1970C>A | Neural tube defect [RCV000333333]|Sacral defect with anterior meningocele [RCV000369322] | uncertain significance | 1 | 115693349 | 115693349 | Human | 3 | name |
| 11584653 | CV276388 | single nucleotide variant | NM_138959.3(VANGL1):c.*2043C>T | Neural tube defect [RCV000275397]|Sacral defect with anterior meningocele [RCV000330508] | benign|likely benign | 1 | 115693422 | 115693422 | Human | 3 | name |
| 11592462 | CV276393 | single nucleotide variant | NM_138959.3(VANGL1):c.*2329C>T | Neural tube defect [RCV000403807]|Sacral defect with anterior meningocele [RCV000338892] | uncertain significance | 1 | 115693708 | 115693708 | Human | 3 | name |
| 11587946 | CV276394 | single nucleotide variant | NM_138959.3(VANGL1):c.*2336A>G | Neural tube defect [RCV000298904]|Sacral defect with anterior meningocele [RCV000335210] | likely benign|uncertain significance | 1 | 115693715 | 115693715 | Human | 3 | name |
| 11589905 | CV276395 | single nucleotide variant | NM_138959.3(VANGL1):c.*2351T>G | Neural tube defect [RCV000395751]|Sacral defect with anterior meningocele [RCV000314286]|not provided [RCV004714655] | benign|likely benign | 1 | 115693730 | 115693730 | Human | 3 | name |
| 11645458 | CV276396 | single nucleotide variant | NM_138959.3(VANGL1):c.*2542C>T | Neural tube defect [RCV000378619]|Sacral defect with anterior meningocele [RCV000265434] | uncertain significance | 1 | 115693921 | 115693921 | Human | 3 | name |
| 11588942 | CV276397 | single nucleotide variant | NM_138959.3(VANGL1):c.*3123A>G | Neural tube defect [RCV000306806]|Sacral defect with anterior meningocele [RCV000390733] | uncertain significance | 1 | 115694502 | 115694502 | Human | 3 | name |
| 11590201 | CV276398 | single nucleotide variant | NM_138959.3(VANGL1):c.*3496T>A | Neural tube defect [RCV000387763]|Sacral defect with anterior meningocele [RCV000316995]|not provided [RCV004714659] | benign|likely benign | 1 | 115694875 | 115694875 | Human | 3 | name |
| 11649193 | CV276406 | single nucleotide variant | NM_138959.3(VANGL1):c.*3720T>C | Neural tube defect [RCV000285764]|Sacral defect with anterior meningocele [RCV000343085] | uncertain significance | 1 | 115695099 | 115695099 | Human | 3 | name |
| 11665547 | CV276408 | single nucleotide variant | NM_138959.3(VANGL1):c.*4504C>T | Catecholaminergic polymorphic ventricular tachycardia [RCV000323321]|Neural tube defect [RCV000367832]|Sacral defect with anterior meningocele [RCV000275598]|not provided [RCV004710703] | benign|likely benign | 1 | 115695883 | 115695883 | Human | 5 | name |
| 11592486 | CV276409 | single nucleotide variant | NM_138959.3(VANGL1):c.*4846G>C | Neural tube defect [RCV000407259]|Sacral defect with anterior meningocele [RCV000339168]|not provided [RCV004691129] | uncertain significance | 1 | 115696225 | 115696225 | Human | 3 | name |
| 11584267 | CV276410 | single nucleotide variant | NM_138959.3(VANGL1):c.*5267G>A | Caudal regression sequence [RCV002469112]|Neural tube defect [RCV000325393]|Sacral defect with anterior meningocele [RCV001098381] | benign|uncertain significance | 1 | 115696646 | 115696646 | Human | 3 | name |
| 11590972 | CV276434 | single nucleotide variant | NM_138959.3(VANGL1):c.*5351G>A | Caudal regression sequence [RCV002469113]|Neural tube defect [RCV000324322]|Sacral defect with anterior meningocele [RCV001098382] | uncertain significance | 1 | 115696730 | 115696730 | Human | 3 | name |
| 11666468 | CV276435 | single nucleotide variant | NM_138959.3(VANGL1):c.*5633T>G | Catecholaminergic polymorphic ventricular tachycardia [RCV000348097]|Neural tube defect [RCV000347947]|Sacral defect with anterior meningocele [RCV000401932]|not provided [RCV004710706] | benign|likely benign | 1 | 115697012 | 115697012 | Human | 5 | name |
| 11582666 | CV276437 | single nucleotide variant | NM_138959.3(VANGL1):c.*5862G>A | Neural tube defect [RCV000332831]|Sacral defect with anterior meningocele [RCV000261320] | uncertain significance | 1 | 115697241 | 115697241 | Human | 3 | name |
| 11665684 | CV276450 | single nucleotide variant | NM_138959.3(VANGL1):c.*5995A>T | Catecholaminergic polymorphic ventricular tachycardia [RCV000349308]|Neural tube defect [RCV000287498]|Sacral defect with anterior meningocele [RCV000344757]|not provided [RCV004710709] | benign|likely benign | 1 | 115697374 | 115697374 | Human | 5 | name |
| 11652516 | CV276478 | single nucleotide variant | NM_138959.3(VANGL1):c.*1042C>A | Neural tube defect [RCV000394157]|Sacral defect with anterior meningocele [RCV000305331] | uncertain significance | 1 | 115692421 | 115692421 | Human | 3 | name |
| 11665962 | CV276479 | single nucleotide variant | NM_138959.3(VANGL1):c.*6026G>A | Catecholaminergic polymorphic ventricular tachycardia [RCV000398116]|Neural tube defect [RCV000305185]|Sacral defect with anterior meningocele [RCV000405967]|not provided [RCV004710710] | benign|likely benign | 1 | 115697405 | 115697405 | Human | 5 | name |
| 11665476 | CV276480 | single nucleotide variant | NM_138959.3(VANGL1):c.*6212C>T | Catecholaminergic polymorphic ventricular tachycardia [RCV000336594]|Neural tube defect [RCV000274165]|Sacral defect with anterior meningocele [RCV000368682]|not provided [RCV004710712] | benign|likely benign | 1 | 115697591 | 115697591 | Human | 5 | name |
| 11592842 | CV276483 | single nucleotide variant | NM_138959.3(VANGL1):c.*1627A>G | Neural tube defect [RCV000406040]|Sacral defect with anterior meningocele [RCV000342776] | benign|likely benign | 1 | 115693006 | 115693006 | Human | 3 | name |
| 11579404 | CV276489 | single nucleotide variant | NM_138959.3(VANGL1):c.*1749G>A | Neural tube defect [RCV000302855]|Sacral defect with anterior meningocele [RCV000357610] | uncertain significance | 1 | 115693128 | 115693128 | Human | 3 | name |
| 11649950 | CV276491 | single nucleotide variant | NM_138959.3(VANGL1):c.*6474T>G | Neural tube defect [RCV000290159]|Sacral defect with anterior meningocele [RCV000384585] | uncertain significance | 1 | 115697853 | 115697853 | Human | 3 | name |
| 11654955 | CV276492 | single nucleotide variant | NM_138959.3(VANGL1):c.*6602C>T | Neural tube defect [RCV000321744]|Sacral defect with anterior meningocele [RCV000376353] | uncertain significance | 1 | 115697981 | 115697981 | Human | 3 | name |
| 11649376 | CV276493 | single nucleotide variant | NM_138959.3(VANGL1):c.*2116A>T | Neural tube defect [RCV000341881]|Sacral defect with anterior meningocele [RCV000286866] | uncertain significance | 1 | 115693495 | 115693495 | Human | 3 | name |
| 11646732 | CV276494 | single nucleotide variant | NM_138959.3(VANGL1):c.*2460C>T | Neural tube defect [RCV000366889]|Sacral defect with anterior meningocele [RCV000272317] | uncertain significance | 1 | 115693839 | 115693839 | Human | 3 | name |
| 11646169 | CV276503 | single nucleotide variant | NM_138959.3(VANGL1):c.*2541G>A | Neural tube defect [RCV000323904]|Sacral defect with anterior meningocele [RCV000268866] | uncertain significance | 1 | 115693920 | 115693920 | Human | 3 | name |
| 11586343 | CV276508 | single nucleotide variant | NM_138959.3(VANGL1):c.*6640G>A | Neural tube defect [RCV000286771]|Sacral defect with anterior meningocele [RCV000341796] | uncertain significance | 1 | 115698019 | 115698019 | Human | 3 | name |
| 11655665 | CV276517 | single nucleotide variant | NM_138959.3(VANGL1):c.*4676C>G | Neural tube defect [RCV000384262]|Sacral defect with anterior meningocele [RCV000327314] | uncertain significance | 1 | 115696055 | 115696055 | Human | 3 | name |
| 11586353 | CV276524 | single nucleotide variant | NM_138959.3(VANGL1):c.*4731C>T | Caudal regression sequence [RCV002469110]|Neural tube defect [RCV000326153] | uncertain significance | 1 | 115696110 | 115696110 | Human | 3 | name |
| 11587930 | CV276525 | single nucleotide variant | NM_138959.3(VANGL1):c.*5066C>G | Neural tube defect [RCV000298786]|Sacral defect with anterior meningocele [RCV000402724] | uncertain significance | 1 | 115696445 | 115696445 | Human | 3 | name |
| 11595386 | CV276526 | single nucleotide variant | NM_138959.3(VANGL1):c.*5132G>T | Neural tube defect [RCV000369748]|Sacral defect with anterior meningocele [RCV000395897] | uncertain significance | 1 | 115696511 | 115696511 | Human | 3 | name |
| 11666036 | CV276527 | single nucleotide variant | NM_138959.3(VANGL1):c.*5266C>T | Catecholaminergic polymorphic ventricular tachycardia [RCV000382565]|Neural tube defect [RCV000368606]|Sacral defect with anterior meningocele [RCV000311606]|not provided [RCV004710704] | benign|likely benign | 1 | 115696645 | 115696645 | Human | 5 | name |
| 11665331 | CV276533 | single nucleotide variant | NM_138959.3(VANGL1):c.*5368G>A | Catecholaminergic polymorphic ventricular tachycardia [RCV000288393]|Neural tube defect [RCV000265610]|Sacral defect with anterior meningocele [RCV000318419]|not provided [RCV004710705] | benign|likely benign | 1 | 115696747 | 115696747 | Human | 5 | name |
| 11589226 | CV276537 | single nucleotide variant | NM_138959.3(VANGL1):c.*5466G>A | Neural tube defect [RCV000308850]|Sacral defect with anterior meningocele [RCV000403842] | likely benign|uncertain significance | 1 | 115696845 | 115696845 | Human | 3 | name |
| 11582815 | CV276549 | single nucleotide variant | NM_138959.3(VANGL1):c.*5808C>T | Neural tube defect [RCV000359360]|Sacral defect with anterior meningocele [RCV000262292] | benign|uncertain significance | 1 | 115697187 | 115697187 | Human | 3 | name |
| 11665287 | CV276563 | single nucleotide variant | NM_138959.3(VANGL1):c.*6199A>T | Catecholaminergic polymorphic ventricular tachycardia [RCV000314375]|Neural tube defect [RCV000263564]|Sacral defect with anterior meningocele [RCV000300055]|not provided [RCV004710711] | benign|likely benign | 1 | 115697578 | 115697578 | Human | 5 | name |
| 11646423 | CV276564 | single nucleotide variant | NM_138959.3(VANGL1):c.*6360C>T | Neural tube defect [RCV000325592]|Sacral defect with anterior meningocele [RCV000270518] | uncertain significance | 1 | 115697739 | 115697739 | Human | 3 | name |
| 15145658 | CV743678 | single nucleotide variant | NM_138959.3(VANGL1):c.205-4C>T | not provided [RCV000900196] | benign | 1 | 115663657 | 115663657 | Human | | name |
| 28884675 | CV862039 | single nucleotide variant | NM_138959.3(VANGL1):c.*1402C>G | Neural tube defect [RCV001097889]|Sacral defect with anterior meningocele [RCV001097888] | uncertain significance | 1 | 115692781 | 115692781 | Human | 3 | name |
| 28890112 | CV862040 | single nucleotide variant | NM_138959.3(VANGL1):c.*1492G>A | Neural tube defect [RCV001099685]|Sacral defect with anterior meningocele [RCV001099684] | uncertain significance | 1 | 115692871 | 115692871 | Human | 3 | name |
| 28890118 | CV862041 | single nucleotide variant | NM_138959.3(VANGL1):c.*1492G>T | Neural tube defect [RCV001099687]|Sacral defect with anterior meningocele [RCV001099686] | uncertain significance | 1 | 115692871 | 115692871 | Human | 3 | name |
| 28895092 | CV862042 | single nucleotide variant | NM_138959.3(VANGL1):c.*1638A>G | Neural tube defect [RCV001101669]|Sacral defect with anterior meningocele [RCV001101668] | uncertain significance | 1 | 115693017 | 115693017 | Human | 3 | name |
| 28895098 | CV862043 | single nucleotide variant | NM_138959.3(VANGL1):c.*1652C>T | Neural tube defect [RCV001101670]|Sacral defect with anterior meningocele [RCV001101671] | benign|likely benign | 1 | 115693031 | 115693031 | Human | 3 | name |
| 28879498 | CV862044 | single nucleotide variant | NM_138959.3(VANGL1):c.*1748C>T | Neural tube defect [RCV001101672]|Sacral defect with anterior meningocele [RCV001096241] | uncertain significance | 1 | 115693127 | 115693127 | Human | 3 | name |
| 28885010 | CV862045 | single nucleotide variant | NM_138959.3(VANGL1):c.*2009C>T | Neural tube defect [RCV001097991]|Sacral defect with anterior meningocele [RCV001097990] | uncertain significance | 1 | 115693388 | 115693388 | Human | 3 | name |
| 28895317 | CV862046 | single nucleotide variant | NM_138959.3(VANGL1):c.*2344A>C | Neural tube defect [RCV001101759]|Sacral defect with anterior meningocele [RCV001101760] | benign|likely benign | 1 | 115693723 | 115693723 | Human | 3 | name |
| 28879822 | CV862047 | single nucleotide variant | NM_138959.3(VANGL1):c.*2504A>G | Neural tube defect [RCV001096343]|Sacral defect with anterior meningocele [RCV001096344] | uncertain significance | 1 | 115693883 | 115693883 | Human | 3 | name |
| 28885270 | CV862048 | single nucleotide variant | NM_138959.3(VANGL1):c.*2592T>C | Neural tube defect [RCV001098081]|Sacral defect with anterior meningocele [RCV001098082] | uncertain significance | 1 | 115693971 | 115693971 | Human | 3 | name |
| 28885274 | CV862049 | single nucleotide variant | NM_138959.3(VANGL1):c.*2708G>A | Neural tube defect [RCV001098084]|Sacral defect with anterior meningocele [RCV001098083] | uncertain significance | 1 | 115694087 | 115694087 | Human | 3 | name |
| 28890610 | CV862050 | single nucleotide variant | NM_138959.3(VANGL1):c.*2917G>A | Neural tube defect [RCV001099871]|Sacral defect with anterior meningocele [RCV001099870] | uncertain significance | 1 | 115694296 | 115694296 | Human | 3 | name |
| 28890615 | CV862051 | single nucleotide variant | NM_138959.3(VANGL1):c.*2961T>G | Neural tube defect [RCV001099872]|Sacral defect with anterior meningocele [RCV001099873] | uncertain significance | 1 | 115694340 | 115694340 | Human | 3 | name |
| 28895571 | CV862052 | single nucleotide variant | NM_138959.3(VANGL1):c.*3049G>C | Neural tube defect [RCV001101866]|Sacral defect with anterior meningocele [RCV001101867] | uncertain significance | 1 | 115694428 | 115694428 | Human | 3 | name |
| 28895575 | CV862053 | single nucleotide variant | NM_138959.3(VANGL1):c.*3150T>C | Neural tube defect [RCV001101869]|Sacral defect with anterior meningocele [RCV001101868] | benign|uncertain significance | 1 | 115694529 | 115694529 | Human | 3 | name |
| 28880106 | CV862054 | single nucleotide variant | NM_138959.3(VANGL1):c.*3267C>T | Neural tube defect [RCV001101870]|Sacral defect with anterior meningocele [RCV001096434] | uncertain significance | 1 | 115694646 | 115694646 | Human | 3 | name |
| 28880114 | CV862055 | single nucleotide variant | NM_138959.3(VANGL1):c.*3273A>G | Neural tube defect [RCV001096435]|Sacral defect with anterior meningocele [RCV001096436] | uncertain significance | 1 | 115694652 | 115694652 | Human | 3 | name |
| 28880119 | CV862056 | single nucleotide variant | NM_138959.3(VANGL1):c.*3290A>G | Neural tube defect [RCV001096438]|Sacral defect with anterior meningocele [RCV001096437] | uncertain significance | 1 | 115694669 | 115694669 | Human | 3 | name |
| 28885558 | CV862057 | single nucleotide variant | NM_138959.3(VANGL1):c.*3409T>C | Neural tube defect [RCV001098175]|Sacral defect with anterior meningocele [RCV001098176] | benign|uncertain significance | 1 | 115694788 | 115694788 | Human | 3 | name |
| 28890849 | CV862058 | single nucleotide variant | NM_138959.3(VANGL1):c.*3559G>A | Neural tube defect [RCV001099955]|Sacral defect with anterior meningocele [RCV001099954] | benign|uncertain significance | 1 | 115694938 | 115694938 | Human | 3 | name |
| 28890854 | CV862059 | single nucleotide variant | NM_138959.3(VANGL1):c.*3608C>T | Neural tube defect [RCV001099956]|Sacral defect with anterior meningocele [RCV001099957]|not provided [RCV003405307] | benign|uncertain significance | 1 | 115694987 | 115694987 | Human | 3 | name |
| 28890860 | CV862060 | single nucleotide variant | NM_138959.3(VANGL1):c.*3653C>T | Neural tube defect [RCV001101962]|Sacral defect with anterior meningocele [RCV001099958] | benign|likely benign | 1 | 115695032 | 115695032 | Human | 3 | name |
| 28895806 | CV862061 | single nucleotide variant | NM_138959.3(VANGL1):c.*3671T>C | Neural tube defect [RCV001101964]|Sacral defect with anterior meningocele [RCV001101963] | uncertain significance | 1 | 115695050 | 115695050 | Human | 3 | name |
| 28895810 | CV862062 | single nucleotide variant | NM_138959.3(VANGL1):c.*3708C>T | Neural tube defect [RCV001101965]|Sacral defect with anterior meningocele [RCV001101966] | uncertain significance | 1 | 115695087 | 115695087 | Human | 3 | name |
| 28880430 | CV862063 | single nucleotide variant | NM_138959.3(VANGL1):c.*3742A>T | Neural tube defect [RCV001096548]|Sacral defect with anterior meningocele [RCV001096549] | benign|uncertain significance | 1 | 115695121 | 115695121 | Human | 3 | name |
| 28880438 | CV862064 | single nucleotide variant | NM_138959.3(VANGL1):c.*3844A>G | Neural tube defect [RCV001096551]|Sacral defect with anterior meningocele [RCV001096550] | uncertain significance | 1 | 115695223 | 115695223 | Human | 3 | name |
| 28880443 | CV862065 | single nucleotide variant | NM_138959.3(VANGL1):c.*4041T>C | Neural tube defect [RCV001096552]|Sacral defect with anterior meningocele [RCV001096553] | uncertain significance | 1 | 115695420 | 115695420 | Human | 3 | name |
| 28880448 | CV862066 | single nucleotide variant | NM_138959.3(VANGL1):c.*4209A>G | Neural tube defect [RCV001096554]|Sacral defect with anterior meningocele [RCV001098287] | uncertain significance | 1 | 115695588 | 115695588 | Human | 3 | name |
| 28885892 | CV862067 | single nucleotide variant | NM_138959.3(VANGL1):c.*4254A>G | Neural tube defect [RCV001098289]|Sacral defect with anterior meningocele [RCV001098288] | uncertain significance | 1 | 115695633 | 115695633 | Human | 3 | name |
| 28885898 | CV862068 | single nucleotide variant | NM_138959.3(VANGL1):c.*4272T>G | Neural tube defect [RCV001098291]|Sacral defect with anterior meningocele [RCV001098290] | uncertain significance | 1 | 115695651 | 115695651 | Human | 3 | name |
| 28885906 | CV862069 | single nucleotide variant | NM_138959.3(VANGL1):c.*4347C>T | Neural tube defect [RCV001098292]|Sacral defect with anterior meningocele [RCV001098293] | uncertain significance | 1 | 115695726 | 115695726 | Human | 3 | name |
| 28891136 | CV862070 | single nucleotide variant | NM_138959.3(VANGL1):c.*4788C>G | Neural tube defect [RCV001102050]|Sacral defect with anterior meningocele [RCV001100060] | benign|likely benign | 1 | 115696167 | 115696167 | Human | 3 | name |
| 28896041 | CV862071 | single nucleotide variant | NM_138959.3(VANGL1):c.*4800C>A | Neural tube defect [RCV001102052]|Sacral defect with anterior meningocele [RCV001102051] | uncertain significance | 1 | 115696179 | 115696179 | Human | 3 | name |
| 28896046 | CV862072 | single nucleotide variant | NM_138959.3(VANGL1):c.*5008T>A | Neural tube defect [RCV001102054]|Sacral defect with anterior meningocele [RCV001102053] | benign|likely benign | 1 | 115696387 | 115696387 | Human | 3 | name |
| 28880766 | CV862073 | single nucleotide variant | NM_138959.3(VANGL1):c.*5036G>A | Neural tube defect [RCV001096652]|Sacral defect with anterior meningocele [RCV001096651] | uncertain significance | 1 | 115696415 | 115696415 | Human | 3 | name |
| 28896523 | CV862074 | single nucleotide variant | NM_138959.3(VANGL1):c.*6681A>G | Neural tube defect [RCV001102237]|Sacral defect with anterior meningocele [RCV001102236] | uncertain significance | 1 | 115698060 | 115698060 | Human | 3 | name |
| 28896528 | CV862075 | single nucleotide variant | NM_138959.3(VANGL1):c.*6687A>G | Neural tube defect [RCV001102239]|Sacral defect with anterior meningocele [RCV001102238] | uncertain significance | 1 | 115698066 | 115698066 | Human | 3 | name |
| 28881357 | CV862076 | single nucleotide variant | NM_138959.3(VANGL1):c.*6794C>A | Neural tube defect [RCV001096827]|Sacral defect with anterior meningocele [RCV001096826]|not provided [RCV002264182] | benign|uncertain significance | 1 | 115698173 | 115698173 | Human | 3 | name |
| 28881366 | CV862077 | single nucleotide variant | NM_138959.3(VANGL1):c.*6837A>G | Neural tube defect [RCV001096828]|Sacral defect with anterior meningocele [RCV001096829] | uncertain significance | 1 | 115698216 | 115698216 | Human | 3 | name |
| 150460764 | CV1231388 | single nucleotide variant | NM_138959.3(VANGL1):c.813-60G>A | not provided [RCV001640953] | benign | 1 | 115682304 | 115682304 | Human | | name |
| 150485265 | CV1273808 | single nucleotide variant | NM_138959.3(VANGL1):c.946+62A>C | not provided [RCV001698687] | benign | 1 | 115682559 | 115682559 | Human | | name |
| 150452013 | CV1276670 | single nucleotide variant | NM_138959.3(VANGL1):c.813-45C>A | Sacral defect with anterior meningocele [RCV002243436]|not provided [RCV001708459] | benign | 1 | 115682319 | 115682319 | Human | 1 | name |
| 150483583 | CV1280238 | single nucleotide variant | NM_138959.3(VANGL1):c.72-114G>A | not provided [RCV001715212] | benign | 1 | 115659527 | 115659527 | Human | | name |
| 11649487 | CV276330 | microsatellite | NM_138959.3(VANGL1):c.*89TTC[2] | Caudal regression sequence [RCV002469104]|Neural tube defect [RCV000287837] | uncertain significance | 1 | 115691468 | 115691470 | Human | | name |
| 150446787 | CV1215708 | single nucleotide variant | NM_138959.3(VANGL1):c.946+312G>T | not provided [RCV001611301] | benign | 1 | 115682809 | 115682809 | Human | | name |
| 150479773 | CV1219297 | single nucleotide variant | NM_138959.3(VANGL1):c.813-193C>T | not provided [RCV001616639] | benign | 1 | 115682171 | 115682171 | Human | | name |
| 150516859 | CV1227298 | single nucleotide variant | NM_138959.3(VANGL1):c.947-106C>T | not provided [RCV001639398] | benign | 1 | 115683838 | 115683838 | Human | | name |
| 150469206 | CV1249057 | single nucleotide variant | NM_138959.3(VANGL1):c.813-197T>C | not provided [RCV001670818] | benign | 1 | 115682167 | 115682167 | Human | | name |
| 150465765 | CV1277293 | single nucleotide variant | NM_138959.3(VANGL1):c.1314+72C>T | not provided [RCV001710587] | benign | 1 | 115685599 | 115685599 | Human | | name |
| 150547583 | CV1292087 | duplication | NM_138959.3(VANGL1):c.-137-11dup | not specified [RCV001733753] | benign | 1 | 115651261 | 115651262 | Human | | name |
| 11656708 | CV276254 | microsatellite | NM_138959.3(VANGL1):c.*5441TC[3] | Caudal regression sequence [RCV002469114]|Neural tube defect [RCV000335557] | uncertain significance | 1 | 115696820 | 115696821 | Human | | name |
| 11650164 | CV276308 | microsatellite | NM_138959.3(VANGL1):c.-247CGG[6] | Caudal regression sequence [RCV002469101]|Neural tube defect [RCV000329829] | uncertain significance | 1 | 115641975 | 115641976 | Human | | name |
| 150335121 | CV1170557 | single nucleotide variant | NM_138959.3(VANGL1):c.1079+220G>A | not provided [RCV001540415] | benign | 1 | 115684296 | 115684296 | Human | | name |
| 150461848 | CV1214563 | single nucleotide variant | NM_138959.3(VANGL1):c.1315-330C>T | not provided [RCV001613556] | benign | 1 | 115690789 | 115690789 | Human | | name |
| 150431908 | CV1236583 | single nucleotide variant | NM_138959.3(VANGL1):c.1079+165T>C | not provided [RCV001641987] | benign | 1 | 115684241 | 115684241 | Human | | name |
| 150492223 | CV1238132 | single nucleotide variant | NM_138959.3(VANGL1):c.1080-276T>C | not provided [RCV001654978] | benign | 1 | 115685017 | 115685017 | Human | | name |
| 150473965 | CV1252492 | single nucleotide variant | NM_138959.3(VANGL1):c.1079+264A>G | not provided [RCV001671695] | benign | 1 | 115684340 | 115684340 | Human | | name |
| 150450763 | CV1260994 | single nucleotide variant | NM_138959.3(VANGL1):c.1080-250C>T | not provided [RCV001680663] | benign | 1 | 115685043 | 115685043 | Human | | name |
| 11652180 | CV276513 | microsatellite | NM_138959.3(VANGL1):c.*3762CAAA[2] | Caudal regression sequence [RCV002469108]|Neural tube defect [RCV000303382] | likely benign | 1 | 115695138 | 115695141 | Human | | name |
| 11652942 | CV276255 | deletion | NM_138959.3(VANGL1):c.*5639_*5640del | Caudal regression sequence [RCV002469115]|Neural tube defect [RCV000308170] | uncertain significance | 1 | 115697017 | 115697018 | Human | 3 | name |
| 28883435 | CV862016 | single nucleotide variant | NM_138959.3(VANGL1):c.51G>A (p.Ser17=) | Neural tube defect [RCV001097497]|Sacral defect with anterior meningocele [RCV001097496] | likely benign|uncertain significance | 1 | 115651464 | 115651464 | Human | 3 | name |
| 11577952 | CV276189 | single nucleotide variant | NM_138959.3(VANGL1):c.114C>T (p.Asp38=) | Neural tube defect [RCV000270888]|Sacral defect with anterior meningocele [RCV000328330] | likely benign|uncertain significance | 1 | 115659683 | 115659683 | Human | 3 | name |
| 405269276 | CV3199201 | single nucleotide variant | NM_138959.3(VANGL1):c.138C>T (p.Val46=) | VANGL1-related disorder [RCV003912300] | likely benign | 1 | 115659707 | 115659707 | Human | | name , trait , alternate_id |
| 405806129 | CV3348713 | single nucleotide variant | NM_138959.3(VANGL1):c.10G>A (p.Glu4Lys) | Inborn genetic diseases [RCV004480045] | uncertain significance | 1 | 115651423 | 115651423 | Human | 1 | name |
| 598239883 | CV3929350 | single nucleotide variant | NM_138959.3(VANGL1):c.20A>T (p.Tyr7Phe) | Inborn genetic diseases [RCV005296672] | uncertain significance | 1 | 115651433 | 115651433 | Human | 1 | name |
| 15160872 | CV731600 | single nucleotide variant | NM_138959.3(VANGL1):c.231G>A (p.Thr77=) | Neural tube defect [RCV001099254]|Sacral defect with anterior meningocele [RCV001099253]|not provided [RCV000903233] | likely benign|uncertain significance | 1 | 115663687 | 115663687 | Human | 3 | name |
| 15157210 | CV731601 | single nucleotide variant | NM_138959.3(VANGL1):c.249G>A (p.Ser83=) | Inborn genetic diseases [RCV004028528]|not provided [RCV000902481] | likely benign | 1 | 115663705 | 115663705 | Human | 1 | name |
| 15187965 | CV731602 | single nucleotide variant | NM_138959.3(VANGL1):c.285C>T (p.Ile95=) | Neural tube defect [RCV001099257]|Sacral defect with anterior meningocele [RCV001101255]|not provided [RCV000909235] | benign|likely benign | 1 | 115663741 | 115663741 | Human | 3 | name |
| 9688820 | CV178142 | single nucleotide variant | NM_138959.3(VANGL1):c.435T>C (p.Cys145=) | Neural tube defect [RCV000278179]|Sacral defect with anterior meningocele [RCV000316971]|not provided [RCV000957784]|not specified [RCV000154113] | benign|likely benign | 1 | 115663891 | 115663891 | Human | 3 | name |
| 156016679 | CV2295389 | single nucleotide variant | NM_138959.3(VANGL1):c.68A>C (p.Gln23Pro) | Inborn genetic diseases [RCV002884611] | uncertain significance | 1 | 115651481 | 115651481 | Human | 1 | name |
| 11578609 | CV275974 | single nucleotide variant | NM_138959.3(VANGL1):c.765C>T (p.Val255=) | Neural tube defect [RCV000342581]|Sacral defect with anterior meningocele [RCV000285255]|not provided [RCV004691128] | uncertain significance | 1 | 115664221 | 115664221 | Human | 3 | name |
| 598239888 | CV3929352 | single nucleotide variant | NM_138959.3(VANGL1):c.37T>C (p.Tyr13His) | Inborn genetic diseases [RCV005296673] | uncertain significance | 1 | 115651450 | 115651450 | Human | 1 | name |
| 13795261 | CV535387 | single nucleotide variant | NM_138959.3(VANGL1):c.41C>T (p.Ser14Leu) | Keratoconus [RCV000678665] | uncertain significance | 1 | 115651454 | 115651454 | Human | 2 | name |
| 15128869 | CV706602 | single nucleotide variant | NM_138959.3(VANGL1):c.330C>T (p.Tyr110=) | Neural tube defect [RCV001101260]|Sacral defect with anterior meningocele [RCV001095811]|not provided [RCV000964160] | benign|likely benign | 1 | 115663786 | 115663786 | Human | 3 | name |
| 15112140 | CV718118 | single nucleotide variant | NM_138959.3(VANGL1):c.345C>T (p.Val115=) | Neural tube defect [RCV001095813]|Sacral defect with anterior meningocele [RCV001095812]|not provided [RCV000894408] | benign|likely benign | 1 | 115663801 | 115663801 | Human | 3 | name |
| 15152319 | CV718119 | single nucleotide variant | NM_138959.3(VANGL1):c.774C>T (p.Thr258=) | not provided [RCV000879783] | likely benign | 1 | 115664230 | 115664230 | Human | | name |
| 15120650 | CV731603 | single nucleotide variant | NM_138959.3(VANGL1):c.306C>T (p.Ser102=) | not provided [RCV000895929] | likely benign | 1 | 115663762 | 115663762 | Human | | name |
| 15135314 | CV731605 | single nucleotide variant | NM_138959.3(VANGL1):c.397T>C (p.Leu133=) | not provided [RCV000898436] | likely benign | 1 | 115663853 | 115663853 | Human | | name |
| 15120284 | CV731607 | single nucleotide variant | NM_138959.3(VANGL1):c.714C>T (p.Ile238=) | not provided [RCV000895868] | likely benign | 1 | 115664170 | 115664170 | Human | | name |
| 15116887 | CV745592 | single nucleotide variant | NM_138959.3(VANGL1):c.921C>T (p.Ala307=) | not provided [RCV000917703] | likely benign | 1 | 115682472 | 115682472 | Human | | name |
| 28883442 | CV862017 | single nucleotide variant | NM_138959.3(VANGL1):c.73G>A (p.Glu25Lys) | Neural tube defect [RCV001097499]|Sacral defect with anterior meningocele [RCV001097498]|VANGL1-related disorder [RCV003906185] | benign|likely benign|uncertain significance | 1 | 115659642 | 115659642 | Human | 3 | name , trait , alternate_id |
| 28883449 | CV862018 | single nucleotide variant | NM_138959.3(VANGL1):c.98C>T (p.Ser33Leu) | Neural tube defect [RCV001097500]|Sacral defect with anterior meningocele [RCV001099252] | likely benign|uncertain significance | 1 | 115659667 | 115659667 | Human | 3 | name |
| 28894126 | CV862019 | single nucleotide variant | NM_138959.3(VANGL1):c.312G>C (p.Gly104=) | Neural tube defect [RCV001101256]|Sacral defect with anterior meningocele [RCV001101257] | uncertain significance | 1 | 115663768 | 115663768 | Human | 3 | name |
| 28878163 | CV862020 | single nucleotide variant | NM_138959.3(VANGL1):c.453G>A (p.Gly151=) | Neural tube defect [RCV001097603]|Sacral defect with anterior meningocele [RCV001095814] | uncertain significance | 1 | 115663909 | 115663909 | Human | 3 | name |
| 28889266 | CV862021 | single nucleotide variant | NM_138959.3(VANGL1):c.612C>T (p.Tyr204=) | Neural tube defect [RCV001099364]|Sacral defect with anterior meningocele [RCV001099365] | uncertain significance | 1 | 115664068 | 115664068 | Human | 3 | name |
| 28889277 | CV862023 | single nucleotide variant | NM_138959.3(VANGL1):c.681G>A (p.Val227=) | Neural tube defect [RCV001099369]|Sacral defect with anterior meningocele [RCV001099368] | uncertain significance | 1 | 115664137 | 115664137 | Human | 3 | name |
| 28894374 | CV862025 | single nucleotide variant | NM_138959.3(VANGL1):c.867C>A (p.Ile289=) | Neural tube defect [RCV001101359]|Sacral defect with anterior meningocele [RCV001101360] | uncertain significance | 1 | 115682418 | 115682418 | Human | 3 | name |
| 156227743 | CV2199349 | single nucleotide variant | NM_138959.3(VANGL1):c.254A>G (p.His85Arg) | Inborn genetic diseases [RCV002644744] | uncertain significance | 1 | 115663710 | 115663710 | Human | 1 | name |
| 156390505 | CV2373470 | single nucleotide variant | NM_138959.3(VANGL1):c.103C>T (p.Arg35Trp) | Inborn genetic diseases [RCV002724618] | uncertain significance | 1 | 115659672 | 115659672 | Human | 1 | name |
| 401775602 | CV2692432 | single nucleotide variant | NM_138959.3(VANGL1):c.196G>A (p.Glu66Lys) | Inborn genetic diseases [RCV003286151] | uncertain significance | 1 | 115659765 | 115659765 | Human | 1 | name |
| 405806136 | CV3348716 | single nucleotide variant | NM_138959.3(VANGL1):c.216G>C (p.Trp72Cys) | Inborn genetic diseases [RCV004480048] | uncertain significance | 1 | 115663672 | 115663672 | Human | 1 | name |
| 597642730 | CV3633096 | single nucleotide variant | NM_138959.3(VANGL1):c.268G>A (p.Glu90Lys) | Inborn genetic diseases [RCV004972051] | uncertain significance | 1 | 115663724 | 115663724 | Human | 1 | name |
| 13462636 | CV438861 | single nucleotide variant | NM_138959.3(VANGL1):c.274A>G (p.Ile92Val) | Neural tube defect [RCV001099256]|Sacral defect with anterior meningocele [RCV001099255]|VANGL1-related disorder [RCV003979914]|not provided [RCV000514516] | benign|likely benign|uncertain significance | 1 | 115663730 | 115663730 | Human | 3 | name , trait , alternate_id |
| 15170801 | CV731608 | single nucleotide variant | NM_138959.3(VANGL1):c.1554A>G (p.Leu518=) | not provided [RCV000905336] | likely benign | 1 | 115691358 | 115691358 | Human | | name |
| 15147259 | CV745593 | single nucleotide variant | NM_138959.3(VANGL1):c.1344C>G (p.Gly448=) | not provided [RCV000922873] | likely benign | 1 | 115691148 | 115691148 | Human | | name |
| 21070440 | CV789823 | single nucleotide variant | NM_138959.3(VANGL1):c.248C>T (p.Ser83Leu) | Neural tube defect [RCV000986398] | benign | 1 | 115663704 | 115663704 | Human | 2 | name |
| 28878473 | CV862027 | single nucleotide variant | NM_138959.3(VANGL1):c.1023C>T (p.Asn341=) | Neural tube defect [RCV001095917]|Sacral defect with anterior meningocele [RCV001095916] | likely benign|uncertain significance | 1 | 115684020 | 115684020 | Human | 3 | name |
| 28878483 | CV862028 | single nucleotide variant | NM_138959.3(VANGL1):c.1050T>C (p.His350=) | Neural tube defect [RCV001095918]|Sacral defect with anterior meningocele [RCV001097697] | benign|uncertain significance | 1 | 115684047 | 115684047 | Human | 3 | name |
| 28889561 | CV862031 | single nucleotide variant | NM_138959.3(VANGL1):c.1299C>T (p.Asn433=) | Neural tube defect [RCV001099477]|Sacral defect with anterior meningocele [RCV001099476] | likely benign|uncertain significance | 1 | 115685512 | 115685512 | Human | 3 | name |
| 126914678 | CV1036928 | single nucleotide variant | NM_138959.3(VANGL1):c.635G>A (p.Arg212Gln) | not provided [RCV001358467] | uncertain significance | 1 | 115664091 | 115664091 | Human | | name |
| 150547586 | CV1292088 | single nucleotide variant | NM_138959.3(VANGL1):c.497G>A (p.Gly166Glu) | not specified [RCV001733754] | uncertain significance | 1 | 115663953 | 115663953 | Human | | name |
| 8556134 | CV16385 | single nucleotide variant | NM_138959.3(VANGL1):c.715G>A (p.Val239Ile) | Caudal regression sequence [RCV000001411]|not provided [RCV000418829] | pathogenic|likely pathogenic|uncertain significance | 1 | 115664171 | 115664171 | Human | 1 | name |
| 8556135 | CV16386 | single nucleotide variant | NM_138959.3(VANGL1):c.821G>A (p.Arg274Gln) | Neural tube defects, susceptibility to [RCV000001412]|not provided [RCV000782228] | pathogenic|likely pathogenic|risk factor|uncertain significance | 1 | 115682372 | 115682372 | Human | 1 | name |
| 8556136 | CV16387 | single nucleotide variant | NM_138959.3(VANGL1):c.983T>C (p.Met328Thr) | Neural tube defects, susceptibility to [RCV000001413] | pathogenic|risk factor | 1 | 115683980 | 115683980 | Human | 1 | name |
| 9693443 | CV176924 | single nucleotide variant | NM_138959.3(VANGL1):c.523C>T (p.Arg175Trp) | Neural tube defect [RCV001097605]|Sacral defect with anterior meningocele [RCV001097604]|not provided [RCV000154114] | benign|uncertain significance | 1 | 115663979 | 115663979 | Human | 3 | name |
| 9850441 | CV181536 | single nucleotide variant | NM_138959.3(VANGL1):c.542G>A (p.Arg181Gln) | Neural tube defect [RCV001097606]|Neural tube defects, susceptibility to [RCV000162248]|Sacral defect with anterior meningocele [RCV001097607] | risk factor|uncertain significance | 1 | 115663998 | 115663998 | Human | 3 | name |
| 156027778 | CV2195586 | single nucleotide variant | NM_138959.3(VANGL1):c.869A>G (p.Tyr290Cys) | Inborn genetic diseases [RCV002691339] | uncertain significance | 1 | 115682420 | 115682420 | Human | 1 | name |
| 156259275 | CV2204723 | single nucleotide variant | NM_138959.3(VANGL1):c.679G>T (p.Val227Leu) | Inborn genetic diseases [RCV002668848] | uncertain significance | 1 | 115664135 | 115664135 | Human | 1 | name |
| 155975350 | CV2270065 | single nucleotide variant | NM_138959.3(VANGL1):c.788G>A (p.Arg263His) | Inborn genetic diseases [RCV002818086] | uncertain significance | 1 | 115664244 | 115664244 | Human | 1 | name |
| 329358347 | CV2425226 | single nucleotide variant | NM_138959.3(VANGL1):c.517C>T (p.Arg173Cys) | Inborn genetic diseases [RCV003178948] | uncertain significance | 1 | 115663973 | 115663973 | Human | 1 | name |
| 401736981 | CV2679196 | single nucleotide variant | NM_138959.3(VANGL1):c.787C>T (p.Arg263Cys) | Inborn genetic diseases [RCV003239732]|not specified [RCV004801334] | uncertain significance | 1 | 115664243 | 115664243 | Human | 1 | name |
| 11580392 | CV276198 | single nucleotide variant | NM_138959.3(VANGL1):c.346G>A (p.Ala116Thr) | Neural tube defect [RCV000388583]|Sacral defect with anterior meningocele [RCV000331767]|not provided [RCV001618500] | benign|likely benign | 1 | 115663802 | 115663802 | Human | 3 | name |
| 11578099 | CV276453 | single nucleotide variant | NM_138959.3(VANGL1):c.316G>A (p.Asp106Asn) | Neural tube defect [RCV000366509]|Sacral defect with anterior meningocele [RCV000274233] | uncertain significance | 1 | 115663772 | 115663772 | Human | 3 | name |
| 11578453 | CV276454 | single nucleotide variant | NM_138959.3(VANGL1):c.572T>C (p.Val191Ala) | Inborn genetic diseases [RCV003352825]|Neural tube defect [RCV000373965]|Sacral defect with anterior meningocele [RCV000281582] | likely benign|uncertain significance | 1 | 115664028 | 115664028 | Human | 4 | name |
| 11580623 | CV276457 | single nucleotide variant | NM_138959.3(VANGL1):c.575T>C (p.Leu192Pro) | Inborn genetic diseases [RCV003352826]|Neural tube defect [RCV000339198]|Sacral defect with anterior meningocele [RCV000403708] | benign|uncertain significance | 1 | 115664031 | 115664031 | Human | 4 | name |
| 11658092 | CV276458 | single nucleotide variant | NM_138959.3(VANGL1):c.914A>T (p.His305Leu) | Neural tube defect [RCV000346310]|Sacral defect with anterior meningocele [RCV000396580] | uncertain significance | 1 | 115682465 | 115682465 | Human | 3 | name |
| 401881873 | CV2783988 | single nucleotide variant | NM_138959.3(VANGL1):c.844A>G (p.Asn282Asp) | Inborn genetic diseases [RCV003385509] | uncertain significance | 1 | 115682395 | 115682395 | Human | 1 | name |
| 401895313 | CV2786354 | single nucleotide variant | NM_138959.3(VANGL1):c.596C>T (p.Ser199Phe) | Inborn genetic diseases [RCV003372383] | uncertain significance | 1 | 115664052 | 115664052 | Human | 1 | name |
| 405806138 | CV3348717 | single nucleotide variant | NM_138959.3(VANGL1):c.682G>A (p.Asp228Asn) | Inborn genetic diseases [RCV004480049] | uncertain significance | 1 | 115664138 | 115664138 | Human | 1 | name |
| 405806140 | CV3348718 | single nucleotide variant | NM_138959.3(VANGL1):c.938A>G (p.Asn313Ser) | Inborn genetic diseases [RCV004480050] | uncertain significance | 1 | 115682489 | 115682489 | Human | 1 | name |
| 405806142 | CV3348719 | single nucleotide variant | NM_138959.3(VANGL1):c.977G>A (p.Arg326Gln) | Inborn genetic diseases [RCV004480051]|not specified [RCV004783137] | uncertain significance | 1 | 115683974 | 115683974 | Human | 1 | name |
| 407464774 | CV3493294 | single nucleotide variant | NM_138959.3(VANGL1):c.326G>A (p.Arg109His) | Inborn genetic diseases [RCV004688594] | uncertain significance | 1 | 115663782 | 115663782 | Human | 1 | name |
| 596925080 | CV3541816 | single nucleotide variant | NM_138959.3(VANGL1):c.557G>A (p.Arg186His) | Neural tube defects, susceptibility to [RCV004795527] | uncertain significance | 1 | 115664013 | 115664013 | Human | 1 | name |
| 597642739 | CV3633099 | single nucleotide variant | NM_138959.3(VANGL1):c.634C>T (p.Arg212Trp) | Inborn genetic diseases [RCV004972053] | uncertain significance | 1 | 115664090 | 115664090 | Human | 1 | name |
| 598205311 | CV3929351 | single nucleotide variant | NM_138959.3(VANGL1):c.976C>T (p.Arg326Trp) | Inborn genetic diseases [RCV005290829] | uncertain significance | 1 | 115683973 | 115683973 | Human | 1 | name |
| 13462677 | CV439303 | single nucleotide variant | NM_138959.3(VANGL1):c.323A>G (p.Lys108Arg) | Neural tube defect [RCV001101258]|Sacral defect with anterior meningocele [RCV001101259]|not provided [RCV000514602] | benign|likely benign | 1 | 115663779 | 115663779 | Human | 3 | name |
| 15163000 | CV731604 | single nucleotide variant | NM_138959.3(VANGL1):c.307G>A (p.Val103Met) | not provided [RCV000903677] | likely benign | 1 | 115663763 | 115663763 | Human | | name |
| 15118871 | CV731606 | single nucleotide variant | NM_138959.3(VANGL1):c.640C>T (p.Arg214Trp) | not provided [RCV000895621] | likely benign | 1 | 115664096 | 115664096 | Human | | name |
| 21070443 | CV789824 | single nucleotide variant | NM_138959.3(VANGL1):c.518G>A (p.Arg173His) | Neural tube defect [RCV000986399] | benign | 1 | 115663974 | 115663974 | Human | 2 | name |
| 28889272 | CV862022 | single nucleotide variant | NM_138959.3(VANGL1):c.619C>T (p.Arg207Cys) | Neural tube defect [RCV001099367]|Sacral defect with anterior meningocele [RCV001099366] | uncertain significance | 1 | 115664075 | 115664075 | Human | 3 | name |
| 28889283 | CV862024 | single nucleotide variant | NM_138959.3(VANGL1):c.759G>C (p.Gln253His) | Inborn genetic diseases [RCV004678958]|Neural tube defect [RCV001101358]|Sacral defect with anterior meningocele [RCV001099370] | uncertain significance | 1 | 115664215 | 115664215 | Human | 4 | name |
| 28878470 | CV862026 | single nucleotide variant | NM_138959.3(VANGL1):c.868T>C (p.Tyr290His) | Neural tube defect [RCV001095915]|Sacral defect with anterior meningocele [RCV001101361] | likely benign|uncertain significance | 1 | 115682419 | 115682419 | Human | 3 | name |
| 156116285 | CV2209072 | single nucleotide variant | NM_138959.3(VANGL1):c.1315G>A (p.Ala439Thr) | Inborn genetic diseases [RCV002707534] | uncertain significance | 1 | 115691119 | 115691119 | Human | 1 | name |
| 156241271 | CV2213881 | single nucleotide variant | NM_138959.3(VANGL1):c.1237C>T (p.Arg413Trp) | Inborn genetic diseases [RCV002701858] | uncertain significance | 1 | 115685450 | 115685450 | Human | 1 | name |
| 155922172 | CV2350785 | single nucleotide variant | NM_138959.3(VANGL1):c.1444G>A (p.Val482Ile) | Inborn genetic diseases [RCV002992110] | uncertain significance | 1 | 115691248 | 115691248 | Human | 1 | name |
| 156383568 | CV2361602 | single nucleotide variant | NM_138959.3(VANGL1):c.1300G>A (p.Gly434Ser) | Inborn genetic diseases [RCV002679218] | likely benign | 1 | 115685513 | 115685513 | Human | 1 | name |
| 155932791 | CV2400093 | single nucleotide variant | NM_138959.3(VANGL1):c.1291A>G (p.Ile431Val) | Inborn genetic diseases [RCV002774549] | uncertain significance | 1 | 115685504 | 115685504 | Human | 1 | name |
| 329376814 | CV2455179 | single nucleotide variant | NM_138959.3(VANGL1):c.1049A>G (p.His350Arg) | Inborn genetic diseases [RCV003211663] | uncertain significance | 1 | 115684046 | 115684046 | Human | 1 | name |
| 401754178 | CV2685188 | single nucleotide variant | NM_138959.3(VANGL1):c.1058G>A (p.Arg353Gln) | Inborn genetic diseases [RCV003254913] | uncertain significance | 1 | 115684055 | 115684055 | Human | 1 | name |
| 11579737 | CV276323 | single nucleotide variant | NM_138959.3(VANGL1):c.1040A>C (p.Glu347Ala) | Neural tube defect [RCV000368423]|Sacral defect with anterior meningocele [RCV000311370]|not provided [RCV000880976] | benign|likely benign | 1 | 115684037 | 115684037 | Human | 3 | name |
| 11577476 | CV276459 | single nucleotide variant | NM_138959.3(VANGL1):c.1045G>A (p.Glu349Lys) | Caudal regression sequence [RCV002469103]|Neural tube defect [RCV000297428] | uncertain significance | 1 | 115684042 | 115684042 | Human | 3 | name |
| 11578203 | CV276460 | single nucleotide variant | NM_138959.3(VANGL1):c.1172G>T (p.Arg391Met) | Inborn genetic diseases [RCV002519373]|Neural tube defect [RCV000370782]|Sacral defect with anterior meningocele [RCV000276261] | likely benign|uncertain significance | 1 | 115685385 | 115685385 | Human | 4 | name |
| 405806131 | CV3348714 | single nucleotide variant | NM_138959.3(VANGL1):c.1228C>T (p.Arg410Cys) | Inborn genetic diseases [RCV004480046] | uncertain significance | 1 | 115685441 | 115685441 | Human | 1 | name |
| 405806133 | CV3348715 | single nucleotide variant | NM_138959.3(VANGL1):c.1370G>C (p.Arg457Pro) | Inborn genetic diseases [RCV004480047] | uncertain significance | 1 | 115691174 | 115691174 | Human | 1 | name |
| 407464772 | CV3493293 | single nucleotide variant | NM_138959.3(VANGL1):c.1327C>T (p.Arg443Trp) | Inborn genetic diseases [RCV004688593] | uncertain significance | 1 | 115691131 | 115691131 | Human | 1 | name |
| 407529348 | CV3493296 | single nucleotide variant | NM_138959.3(VANGL1):c.1258A>G (p.Met420Val) | Inborn genetic diseases [RCV004680851] | uncertain significance | 1 | 115685471 | 115685471 | Human | 1 | name |
| 597642734 | CV3633098 | single nucleotide variant | NM_138959.3(VANGL1):c.1246A>G (p.Asn416Asp) | Inborn genetic diseases [RCV004972052] | uncertain significance | 1 | 115685459 | 115685459 | Human | 1 | name |
| 597642743 | CV3633100 | single nucleotide variant | NM_138959.3(VANGL1):c.1532C>T (p.Ser511Phe) | Inborn genetic diseases [RCV004972054] | uncertain significance | 1 | 115691336 | 115691336 | Human | 1 | name |
| 598158482 | CV3896745 | single nucleotide variant | NM_138959.3(VANGL1):c.1365G>C (p.Lys455Asn) | VANGL1-related disorder [RCV005367868] | uncertain significance | 1 | 115691169 | 115691169 | Human | | name , trait , alternate_id |
| 598205305 | CV3929349 | single nucleotide variant | NM_138959.3(VANGL1):c.1003C>T (p.Arg335Cys) | Inborn genetic diseases [RCV005290828] | uncertain significance | 1 | 115684000 | 115684000 | Human | 1 | name |
| 598205316 | CV3929354 | single nucleotide variant | NM_138959.3(VANGL1):c.1418A>G (p.Asn473Ser) | Inborn genetic diseases [RCV005290830] | uncertain significance | 1 | 115691222 | 115691222 | Human | 1 | name |
| 598189565 | CV4008717 | single nucleotide variant | NM_138959.3(VANGL1):c.1337G>A (p.Ser446Asn) | Sacral defect with anterior meningocele [RCV005396216] | uncertain significance | 1 | 115691141 | 115691141 | Human | 1 | name |
| 598189574 | CV4008718 | single nucleotide variant | NM_138959.3(VANGL1):c.1460A>G (p.Asp487Gly) | Sacral defect with anterior meningocele [RCV005396217] | uncertain significance | 1 | 115691264 | 115691264 | Human | 1 | name |
| 616933649 | CV4011607 | single nucleotide variant | NM_138959.3(VANGL1):c.1232T>C (p.Ile411Thr) | not specified [RCV005408155] | uncertain significance | 1 | 115685445 | 115685445 | Human | | name |
| 13831620 | CV582117 | single nucleotide variant | NM_138959.3(VANGL1):c.1267A>T (p.Ile423Phe) | not provided [RCV000722299] | uncertain significance | 1 | 115685480 | 115685480 | Human | | name |
| 13832060 | CV582553 | single nucleotide variant | NM_138959.3(VANGL1):c.1387T>G (p.Trp463Gly) | not provided [RCV000722743] | uncertain significance | 1 | 115691191 | 115691191 | Human | | name |
| 15186914 | CV696006 | single nucleotide variant | NM_138959.3(VANGL1):c.1127A>G (p.Gln376Arg) | Neural tube defect [RCV001097699]|Sacral defect with anterior meningocele [RCV001097698]|not provided [RCV000953427] | benign|likely benign | 1 | 115685340 | 115685340 | Human | 3 | name |
| 28884099 | CV862029 | single nucleotide variant | NM_138959.3(VANGL1):c.1201A>C (p.Met401Leu) | Inborn genetic diseases [RCV003380847]|Neural tube defect [RCV001097701]|Sacral defect with anterior meningocele [RCV001097700] | uncertain significance | 1 | 115685414 | 115685414 | Human | 4 | name |
| 28884107 | CV862030 | single nucleotide variant | NM_138959.3(VANGL1):c.1210G>T (p.Ala404Ser) | Neural tube defect [RCV001099475]|Sacral defect with anterior meningocele [RCV001097702] | uncertain significance | 1 | 115685423 | 115685423 | Human | 3 | name |
| 28889567 | CV862032 | single nucleotide variant | NM_138959.3(VANGL1):c.1491T>G (p.Ile497Met) | Inborn genetic diseases [RCV005286312]|Neural tube defect [RCV001099479]|Sacral defect with anterior meningocele [RCV001099478] | uncertain significance | 1 | 115691295 | 115691295 | Human | 4 | name |
| 28889575 | CV862033 | single nucleotide variant | NM_138959.3(VANGL1):c.1529A>G (p.Lys510Arg) | Inborn genetic diseases [RCV003363106]|Neural tube defect [RCV001099481]|Sacral defect with anterior meningocele [RCV001099480] | uncertain significance | 1 | 115691333 | 115691333 | Human | 4 | name |
| 13832485 | CV582980 | deletion | NM_138959.3(VANGL1):c.155_156del (p.Thr52fs) | not provided [RCV000723174] | uncertain significance | 1 | 115659724 | 115659725 | Human | | name |
| 405691078 | CV3227483 | deletion | NM_138959.3(VANGL1):c.1084_1093del (p.Val362fs) | Neural tube defect [RCV003991828] | uncertain significance | 1 | 115685296 | 115685305 | Human | 2 | name |
| 150439998 | CV1015124 | deletion | NM_138959.3(VANGL1):c.838del (p.Val279_Leu280insTer) | Sacral defect with anterior meningocele [RCV001645003] | pathogenic | 1 | 115682388 | 115682388 | Human | 1 | name |
