ClinVar Miner

Variants studied for congenital total pulmonary venous return anomaly

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
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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 24 8 10 40

Gene and significance breakdown #

Total genes and gene combinations: 26
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Gene or gene combination pathogenic uncertain significance likely benign benign total
ANKRD1 0 2 8 9 15
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: 6
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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
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

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