ClinVar Miner

Variants studied for neural tube defect

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign affects association risk factor not provided total
44 17 318 112 163 1 1 8 9 666

Gene and significance breakdown #

Total genes and gene combinations: 24
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign affects association risk factor not provided total
VANGL1 1 0 132 23 24 0 0 0 0 180
ALX4 9 2 75 19 73 0 0 0 0 178
MSX2 9 0 79 39 30 0 0 0 0 157
NOTCH3 16 8 19 19 20 0 0 0 9 84
CASQ2, VANGL1 0 0 0 11 13 0 0 0 0 24
RAD9B 2 6 0 0 0 0 0 0 0 8
PARD3 2 0 0 0 0 0 0 4 0 6
AMBRA1 0 0 5 0 0 0 0 0 0 5
TBXT 1 0 3 0 0 0 0 0 0 4
VANGL2 0 0 2 0 2 0 0 0 0 4
DLC1 0 0 0 0 0 0 0 2 0 2
FUZ 0 0 0 1 0 0 1 0 0 2
ADNP2, ATP9B, C18orf63, CBLN2, CD226, CNDP1, CNDP2, CTDP1, CTDP1-DT, CYB5A, DIPK1C, DOK6, FBXO15, GALR1, GTSCR1, HSBP1L1, KCNG2, LINC00683, LINC00908, LINC01029, LINC01541, LINC01879, LINC01893, LINC01896, LINC01898, LINC01899, LINC01909, LINC01910, LINC01922, LINC01927, LINC02582, LINC02864, LIVAR, LOC105372187, LOC105372228, LOC107992389, LOC110120868, LOC110120915, LOC110120931, LOC110120935, LOC110121312, LOC110121314, LOC110121318, LOC110121330, LOC112543433, LOC116276492, LOC121627836, LOC121627838, LOC121627839, LOC121627840, LOC121627841, LOC121852970, LOC124904333, LOC125371438, LOC125371439, LOC125371440, LOC125371441, LOC125371442, LOC125371443, LOC126862784, LOC126862785, LOC126862786, LOC126862787, LOC126862788, LOC126862789, LOC126862790, LOC126862791, LOC126862792, LOC126862793, LOC126862794, LOC126862795, LOC126862796, LOC126862797, LOC126862798, LOC126862799, LOC126862800, LOC126862801, LOC126862802, LOC126862803, LOC126862804, LOC126862805, LOC126862806, LOC126862807, LOC126862808, LOC126862809, LOC126862810, LOC126862811, LOC126862812, LOC126862813, LOC126862814, LOC126862815, LOC126862816, LOC126862817, LOC126862818, LOC126862819, LOC126862820, LOC126862821, LOC126862822, LOC126862823, LOC126862824, LOC126862825, LOC126862826, LOC126862827, LOC126862828, LOC126862829, LOC126862830, LOC126862831, LOC126862832, LOC126862833, LOC126862834, LOC129391005, LOC129391006, LOC129391007, LOC129391008, LOC129456126, LOC130062694, LOC130062695, LOC130062696, LOC130062697, LOC130062698, LOC130062699, LOC130062700, LOC130062701, LOC130062702, LOC130062703, LOC130062704, LOC130062705, LOC130062706, LOC130062707, LOC130062708, LOC130062709, LOC130062710, LOC130062711, LOC130062712, LOC130062713, LOC130062714, LOC130062715, LOC130062716, LOC130062717, LOC130062718, LOC130062719, LOC130062720, LOC130062721, LOC130062722, LOC130062723, LOC130062724, LOC130062725, LOC130062726, LOC130062727, LOC130062728, LOC130062729, LOC130062730, LOC130062731, LOC130062732, LOC130062733, LOC130062734, LOC130062735, LOC130062736, LOC130062737, LOC130062738, LOC130062739, LOC130062740, LOC130062741, LOC130062742, LOC130062743, LOC130062744, LOC130062745, LOC130062746, LOC130062747, LOC130062748, LOC130062749, LOC130062750, LOC130062751, LOC130062752, LOC130062753, LOC130062754, LOC130062755, LOC130062756, LOC130062757, LOC130062758, LOC130062759, LOC130062760, LOC130062761, LOC130062762, LOC130062763, LOC130062764, LOC130062765, LOC130062766, LOC130062767, LOC130062768, LOC130062769, LOC130062770, LOC130062771, LOC130062772, LOC130062773, LOC130062774, LOC130062775, LOC130062776, LOC130062777, LOC130062778, LOC130062779, LOC130062780, LOC130062781, LOC130062782, LOC130062783, LOC130062784, LOC130062785, LOC130062786, LOC130062787, LOC130062788, LOC130062789, LOC130062790, LOC130062791, LOC130062792, LOC130062793, LOC130062794, LOC130062795, LOC130062796, LOC130062797, LOC130062798, LOC130062799, LOC130062800, LOC130062801, LOC130062802, LOC130062803, LOC130062804, LOC130062805, LOC130062806, LOC132090508, LOC132090509, LOC132090510, LOC132090511, LOC132090512, LOC132090513, LOC132090514, LOC132090515, LOC132090516, LOC132090517, LOC132090518, LOC132090519, LOC132090520, LOC132090521, LOC132090522, LOC132090523, LOC132090524, LOC132090525, LOC132090526, LOC132090527, LOC132090528, LOC132090529, LOC132090530, LOC132090900, LOC132090901, LOC132211114, LOC284240, LOC339298, MBP, MIR548AV, NETO1, NETO1-DT, NFATC1, PARD6G, PTGR3, RBFA, RBFADN, RTTN, SALL3, SLC66A2, SMIM21, SOCS6, TIMM21, TSHZ1, TXNL4A, ZNF236, ZNF236-DT, ZNF407, ZNF516, ZNF516-DT 1 0 0 0 0 0 0 0 0 1
APAF1 0 0 1 0 0 0 0 0 0 1
ARSG, PRKAR1A, WIPI1 0 0 0 0 0 1 0 0 0 1
ITGB1 0 0 0 0 0 0 0 1 0 1
KMT5B 1 0 0 0 0 0 0 0 0 1
LINC01951, LOC110121041, MIR4634, MSX2 1 0 0 0 0 0 0 0 0 1
LOC121725046, VANGL1 0 0 1 0 0 0 0 0 0 1
LOC124403936, LOC130003663, LOC130003664, PARD3 1 0 0 0 0 0 0 0 0 1
LOC130063807, NOTCH3 0 0 1 0 0 0 0 0 0 1
MIR6795, NOTCH3 0 0 0 0 1 0 0 0 0 1
MTHFR 0 0 0 0 0 0 0 1 0 1
SCRIB 0 1 0 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 33
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign affects association risk factor not provided total
Illumina Laboratory Services, Illumina 0 0 240 57 128 0 0 0 0 425
Labcorp Genetics (formerly Invitae), Labcorp 4 0 48 35 8 0 0 0 0 95
Fulgent Genetics, Fulgent Genetics 6 4 15 20 4 0 0 0 0 49
Genome-Nilou Lab 0 0 0 0 29 0 0 0 0 29
OMIM 22 0 0 0 0 0 0 0 0 22
Finnell Lab, Baylor College of Medicine 2 6 0 0 0 0 0 0 0 8
GeneReviews 1 0 0 0 0 0 0 0 6 7
Beijing Municipal Key Laboratory, Capital Institute of Pediatrics 3 0 0 0 0 0 0 4 0 7
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 5 0 0 0 0 0 0 0 0 5
Juno Genomics, Hangzhou Juno Genomics, Inc 2 2 1 0 0 0 0 0 0 5
Laboratorio di Genetica e Neuroscienze, Istituto Giannina Gaslini 0 0 1 0 0 0 0 4 0 5
Hongyan Wang Laboratory, Fudan University 0 0 5 0 0 0 0 0 0 5
Mendelics 0 0 0 0 4 0 0 0 0 4
Revvity Omics, Revvity 0 0 3 0 0 0 0 0 0 3
GenomeConnect - CureCADASIL 0 0 0 0 0 0 0 0 3 3
North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust 2 0 0 0 0 0 0 0 0 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 1 0 1 0 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 2 0 0 0 0 0 0 0 2
New York Genome Center 0 0 2 0 0 0 0 0 0 2
Baylor Genetics 0 0 1 0 0 0 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 0 0 0 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 0 0 0 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 1 0 0 0 0 0 0 1
Institute of Reproductive and Child Health, Peking University 0 0 0 0 0 1 0 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 1 0 0 0 0 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 0 0 0 0 1 0 0 1
Genetics Institute, Tel Aviv Sourasky Medical Center 0 1 0 0 0 0 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 1 0 0 0 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 0 1 0 0 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 0 0 0 0 0 0 0 1

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