ClinVar Miner

Variants studied for congenital pulmonary venous return anomaly

Included ClinVar conditions (3):
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 total
2 0 26 8 10 42

Gene and significance breakdown #

Total genes and gene combinations: 27
Download table as spreadsheet
Gene or gene combination pathogenic uncertain significance likely benign benign total
ANKRD1 0 2 8 9 15
MYRF 0 2 0 0 2
AATF, ACACA, C17orf78, CCL3L3, CCL4L2, DDX52, DHRS11, DUSP14, GGNBP2, HNF1B, LHX1, LHX1-DT, LOC105371756, LOC110120862, LOC110120863, LOC112529910, LOC125177462, LOC125177463, LOC126862543, LOC126862544, LOC126862545, LOC126862546, LOC126862547, LOC126862548, LOC126862549, LOC129390865, LOC129390866, LOC129390867, MIR2909, MIR378J, MRM1, MYO19, PIGW, SNORA90, SYNRG, TADA2A, TBC1D3B, TBC1D3F, TBC1D3G, TBC1D3H, TBC1D3I, TBC1D3K, ZNHIT3 1 0 0 0 1
ABCC1, ABCC6, BMERB1, CEP20, LOC100288162, LOC100505915, LOC112340377, LOC112340378, LOC112340379, LOC112340380, LOC112340381, LOC112340382, LOC112340383, LOC113939949, LOC121587532, LOC121847972, LOC121847973, LOC125146418, LOC125146419, LOC125146420, LOC125146421, LOC126862298, LOC126862299, LOC126862300, LOC129390770, LOC131696449, MARF1, MIR1972-1, MIR3179-1, MIR3179-2, MIR3180-1, MIR3180-2, MIR3180-4, MIR3670-1, MIR3670-2, MIR484, MIR6506, MIR6511A1, MIR6511A2, MIR6511A3, MIR6511B2, MIR6770-1, MIR6770-2, MPV17L, MPV17L-BMERB1, MYH11, NDE1, NOMO1, NOMO3, NPIPA1, NPIPA5, NPIPA6, NPIPA7, NTAN1, PDXDC1, RRN3 0 1 0 0 1
ABHD12, ENTPD6, GINS1, LOC101926889, LOC112694695, LOC112694696, LOC126863008, LOC129391161, LOC130065567, LOC130065568, LOC130065569, LOC130065570, LOC130065571, LOC130065572, LOC130065573, LOC130065574, LOC130065575, LOC130065576, LOC130065577, LOC130065578, LOC130065579, LOC130065580, LOC130065581, LOC130065582, LOC130065583, LOC130065584, LOC130065585, LOC130065586, LOC130065587, LOC130065588, LOC284798, NINL, PYGB 0 1 0 0 1
ACTRT2, ARHGEF16, C1orf174, CCDC27, CEP104, DFFB, HES5, LINC01134, LINC01345, LINC01346, LINC01777, LINC02780, LOC100996583, LOC105378604, LOC108281140, LOC110120751, LOC110121223, LOC112577578, LOC112577579, LOC112577581, LOC120851201, LOC121677384, LOC121967050, LOC121967051, LOC121967052, LOC124903827, LOC126805581, LOC126805582, LOC126805583, LOC126805584, LOC126805585, LOC126805586, LOC126805587, LOC126805588, LOC126805589, LOC128505377, LOC129388423, LOC129388424, LOC129929190, LOC129929191, LOC129929192, LOC129929193, LOC129929194, LOC129929195, LOC129929196, LOC129929197, LOC129929198, LOC129929199, LOC129929200, LOC129929201, LOC129929202, LOC129929203, LOC129929204, LOC129929205, LOC129929206, LOC129929207, LOC129929208, LOC129929209, LOC129929210, LOC132088687, LOC132088688, LOC132088689, LOC132088690, LOC132088694, LOC132088704, LOC132088707, LOC132088708, LOC132088720, LOC132090658, LOC132205951, LRRC47, MEGF6, MIR4251, MIR551A, MMEL1, PANK4, PRDM16, PRDM16-DT, PRXL2B, SMIM1, TNFRSF14, TP73, TPRG1L, TTC34, WRAP73 0 1 0 0 1
ADA2, ATP6V1E1, BCL2L13, BID, CECR2, CECR3, CECR7, GAB4, HDHD5, IL17RA, LINC00528, LINC01634, LINC01664, LOC101929372, LOC106799832, LOC106799835, LOC114827861, LOC121627928, LOC125424380, LOC125424381, LOC125424382, LOC125424383, LOC125424384, LOC126863093, LOC126863094, LOC126863095, LOC126863096, LOC129391259, LOC129391260, LOC129391261, LOC130066888, LOC130066889, LOC130066890, LOC130066891, LOC130066892, LOC130066893, LOC130066894, LOC130066895, LOC130066896, LOC130066897, LOC130066898, LOC130066899, LOC130066900, LOC130066901, LOC130066902, LOC130066903, LOC130066904, LOC130066905, LOC130066906, LOC130066907, LOC130066908, LOC130066909, LOC130066910, LOC130066911, LOC130066912, LOC130066913, LOC130066914, LOC130066915, LOC130066916, LOC130066917, LOC130066918, LOC130066919, LOC130066920, LOC130066921, LOC130066922, LOC130066923, LOC130066924, LOC130066925, LOC130066926, LOC130066927, LOC130066928, LOC130066929, LOC130066930, LOC130066931, LOC130066932, LOC130066933, LOC130066934, LOC130066935, LOC130066936, LOC130066937, LOC130066938, LOC130066939, LOC130066940, LOC130066941, LOC130066942, LOC130066943, LOC130066944, LOC130066945, LOC130066946, LOC130066947, LOC132090620, LOC132090621, LOC132090622, LOC132090623, LOC132090624, LOC132090625, LOC132090626, MICAL3, MIR3198-1, MIR648, PEX26, SLC25A18, TMEM121B, TUBA8, USP18, XKR3 1 0 0 0 1
AFG2B, C15orf48, DUOX1, DUOX2, DUOXA1, DUOXA2, GATM, LOC130056981, LOC130056982, LOC130056983, LOC130056984, LOC130056985, LOC130056986, LOC130056987, LOC130056988, LOC130056989, LOC130056990, LOC130056991, LOC130056992, LOC130056993, LOC130056994, LOC130056995, LOC130056996, LOC130056997, LOC130056998, LOC130056999, MIR147B, SHF, SLC28A2, TRH-GTG1-7, TRH-GTG1-8, TRH-GTG1-9 0 1 0 0 1
ARHGAP8, KIAA0930, LINC00207, LINC00229, LINC01656, LOC101927551, LOC105373064, LOC112695103, LOC114004364, LOC121853046, LOC125446255, LOC126863163, LOC126863164, LOC126863165, LOC128772436, LOC128772437, LOC128772438, LOC130067656, LOC130067657, LOC130067658, LOC130067659, LOC130067660, LOC130067661, LOC130067662, LOC130067663, LOC130067664, LOC130067665, LOC130067666, LOC130067667, LOC130067668, LOC130067669, LOC130067670, MIR1249, NUP50, NUP50-DT, PARVG, PHF21B, PRR5, PRR5-ARHGAP8, RTL6, SHISAL1 0 1 0 0 1
ASPSCR1, B3GNTL1, CCDC57, CD7, CENPX, CSNK1D, CYBC1, DCXR, DCXR-DT, DUS1L, FASN, FN3K, FN3KRP, FOXK2, GPS1, HEXD, HEXD-IT1, LINC01970, LOC101929552, LOC108254691, LOC108348028, LOC112533686, LOC112533687, LOC121627820, LOC121852956, LOC121852957, LOC125316818, LOC125316819, LOC125316821, LOC125316822, LOC125316823, LOC126862670, LOC126862671, LOC126862672, LOC126862673, LOC126862674, LOC129390948, LOC129390949, LOC129390950, LOC130061994, LOC130061995, LOC130061996, LOC130061997, LOC130061998, LOC130061999, LOC130062000, LOC130062001, LOC130062002, LOC130062003, LOC130062004, LOC130062005, LOC130062006, LOC130062007, LOC130062008, LOC130062009, LOC130062010, LOC130062011, LOC130062012, LOC130062013, LOC130062014, LOC130062015, LOC130062016, LOC130062017, LOC130062018, LOC130062019, LOC130062020, LOC130062021, LOC130062022, LOC130062023, LOC130062024, LOC130062025, LOC130062026, LOC130062027, LOC130062028, LOC130062029, LOC130062030, LOC130062031, LOC130062032, LOC130062033, LOC130062034, LOC130062035, LOC130062036, LOC130062037, LOC130062038, LOC130062039, LOC130062040, LOC130062041, LOC130062042, LOC130062043, LOC130062044, LOC130062045, LOC130062046, LOC130062047, LOC130062048, LOC130062049, LOC130062050, LOC130062051, LOC130062052, LOC130062053, LOC130062054, LOC130062055, LOC130062056, LOC130062057, LOC130062058, LOC130062059, LOC130062060, LOC130062061, LOC130062062, LOC130062063, LOC130062064, LOC130062065, LOC130062066, LOC130062067, LRRC45, METRNL, MIR4525, MIR6787, NARF, OGFOD3, RAB40B, RAC3, RFNG, SECTM1, SLC16A3, SNORD134, TBCD, TEX19, TRX-CAT1-8, UTS2R, WDR45B, ZNF750 0 1 0 0 1
ASZ1, CAPZA2, CFTR, LOC111674463, LOC111674464, LOC111674465, LOC111674466, LOC111674476, LOC111674478, LOC113219433, LOC113219434, LOC113219440, LOC113219442, LOC113219443, LOC113219444, LOC113219445, LOC113219446, LOC113219447, LOC113219471, LOC113664106, LOC113664107, LOC116186911, LOC123956215, LOC126860159, LOC129999177, LOC129999178, LOC129999179, LOC129999180, LOC129999181, LOC129999182, LOC129999183, LOC129999184, LOC129999185, LOC129999186, LOC129999187, LOC129999188, MIR6132, ST7, ST7-OT3, ST7-OT4, WNT2 0 1 0 0 1
BIRC6, LINC00486, LOC100271832, LOC112840924, LOC112840925, LOC122756687, LOC122756688, LOC122756689, LOC126806184, LOC129933459, LOC129933460, LOC129933461, LOC129933462, LOC132088840, LTBP1, MIR4765, MIR558, TTC27 0 1 0 0 1
BMP7 0 0 0 1 1
CAPS2, GLIPR1, GLIPR1L1, GLIPR1L2, KCNC2, KRR1, LOC100130268, LOC124629407, LOC129390507, LOC130008300, LOC130008301, LOC130008302, LOC130008303 0 1 0 0 1
CD300LG, CFAP97D1, DUSP3, FAM215A, LINC01976, LINC02594, LOC102724183, LOC112533640, LOC121587594, LOC125177485, LOC125177486, LOC125177487, LOC126862572, LOC130060947, LOC130060948, LOC130060949, LOC130060950, LOC130060951, LOC130060952, LOC130060953, LOC130060954, LOC130060955, LOC130060956, MEOX1, MPP2, MPP3, NAGS, PPY, PYY, SOST, TMEM101 0 1 0 0 1
CHRNA7, FAN1, KLF13, LINC02352, LINC03034, LOC106736477, LOC110121498, LOC112272582, LOC121847941, LOC125078053, LOC126862088, LOC126862089, LOC127829159, LOC128899998, LOC128899999, LOC129390680, LOC129390681, LOC130056726, LOC130056727, MIR211, MTMR10, OTUD7A, TRPM1 0 1 0 0 1
CLUAP1, CREBBP, DNASE1, LOC130058339, LOC130058340, LOC130058341, LOC130058342, LOC130058343, LOC130058344, LOC130058345, LOC130058346, LOC130058347, LOC130058348, LOC130058349, LOC130058350, LOC130058351, LOC130058352, NLRC3, SLX4, TRAP1 0 1 0 0 1
CSMD1, LOC107522030, LOC123987610 0 1 0 0 1
DIPK2A, LOC129937722, LOC129937723 0 1 0 0 1
DOCK8, FOXD4, LINC01388, LOC110120718, LOC124210604, LOC129390061, LOC130001433, LOC130001434, LOC130001435, LOC130001436, LOC130001437, LOC130001438, PGM5P3, ZNG1A 0 1 0 0 1
FOXR2 0 1 0 0 1
LINC01506, LOC130001851, LOC130001852, LOC130001853, LOC130001854, LOC130001855, LOC130001856, LOC130001857, PGM5, PIP5K1B, TMEM252, TMEM252-DT 0 1 0 0 1
LOC101928438, LOC126860703, LOC130002242, LOC130002243, NR4A3 0 1 0 0 1
LOC106029241, LOC121627957, LOC125446266, LOC126863198, LOC126863199, LOC126863200, LOC130067919, LOC130067920, LOC130067921, LOC130067922, MIR651, PNPLA4, VCX2, VCX3B 0 1 0 0 1
LOC125467766, TENT5D 0 1 0 0 1
MAGEA1 0 1 0 0 1
SMAD2 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 7
Download table as spreadsheet
Submitter pathogenic uncertain significance likely benign benign total
Daryl Scott Lab, Baylor College of Medicine 2 21 0 0 23
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 1 5 4 10
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 3 5 8
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 1 1 3 5
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 2 0 0 2
Cytogenetics- Mohapatra Lab, Banaras Hindu University 0 0 0 1 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 1 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.