ClinVar Miner

Variants from Daryl Scott Lab, Baylor College of Medicine

Location: United States  Primary collection method: clinical testing
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 risk factor total
187 49 188 6 3 7 440

Gene and significance breakdown #

Total genes and gene combinations: 316
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
KMT2D 9 1 2 0 0 0 12
BAZ2B 7 4 0 0 0 0 11
RERE 8 2 1 0 0 0 11
LRP2 0 1 6 0 0 0 7
CHD7 6 0 0 0 0 0 6
FREM2 0 2 1 0 0 2 5
ARID1A 2 0 2 0 0 0 4
CREBBP 4 0 0 0 0 0 4
MYRF 3 0 1 0 0 0 4
PAX5 4 0 0 0 0 0 4
RARB 1 2 1 0 0 0 4
SMARCA4 1 3 0 0 0 0 4
ALG12 3 0 0 0 0 0 3
BRCA2 3 0 0 0 0 0 3
EP300 2 0 1 0 0 0 3
FRAS1 0 0 0 0 0 3 3
NONO 3 0 0 0 0 0 3
SMC1A 1 0 2 0 0 0 3
ABCC2 0 0 2 0 0 0 2
ACTB 0 2 0 0 0 0 2
ADAMTSL2 0 0 2 0 0 0 2
ADNP 2 0 0 0 0 0 2
ANK3 0 0 2 0 0 0 2
ATP7A 0 0 2 0 0 0 2
B3GALT6 0 0 2 0 0 0 2
BAZ2B, TANC1, WDSUB1 2 0 0 0 0 0 2
BBS1, ZDHHC24 2 0 0 0 0 0 2
BCOR 0 0 2 0 0 0 2
BRAT1 0 1 0 1 0 0 2
C2CD3 0 0 1 0 1 0 2
CC2D1A 0 0 1 1 0 0 2
CRPPA 0 0 2 0 0 0 2
DDX3X 1 1 0 0 0 0 2
DHCR7 2 0 0 0 0 0 2
EFTUD2 2 0 0 0 0 0 2
FGFR3 1 0 1 0 0 0 2
FGFRL1 0 0 2 0 0 0 2
GNPTAB 2 0 0 0 0 0 2
HAX1 1 0 1 0 0 0 2
HEXB 1 0 1 0 0 0 2
HSPG2 0 0 2 0 0 0 2
KAT6B 2 0 0 0 0 0 2
KERA 0 0 2 0 0 0 2
KNL1 0 1 1 0 0 0 2
LARS1 0 0 2 0 0 0 2
LRP4 0 0 2 0 0 0 2
MSTO1 1 0 1 0 0 0 2
NIPBL 0 1 1 0 0 0 2
PCLO 0 0 2 0 0 0 2
PIGL 1 1 0 0 0 0 2
PORCN 2 0 0 0 0 0 2
PRR12 2 0 0 0 0 0 2
PTPRQ 0 0 1 1 0 0 2
QARS1 0 0 2 0 0 0 2
RAB3GAP1 2 0 0 0 0 0 2
RYR1 0 0 2 0 0 0 2
SACS 0 0 1 1 0 0 2
SALL1 1 0 1 0 0 0 2
SALL4 1 0 1 0 0 0 2
SCLT1 0 0 2 0 0 0 2
STAG2 1 0 1 0 0 0 2
TCF4 2 0 0 0 0 0 2
TMEM67 0 0 2 0 0 0 2
TPO 1 0 1 0 0 0 2
TTN 1 0 1 0 0 0 2
UBE3B 1 0 1 0 0 0 2
USP9X 1 1 0 0 0 0 2
ZFPM2 2 0 0 0 0 0 2
​intergenic 0 0 1 0 0 0 1
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 0 0 1
AATF, ACACA, C17orf78, DDX52, DUSP14, HNF1B, LHX1, LHX1-DT, LOC105371756, LOC110120863, LOC112529910, LOC125177462, LOC125177463, LOC126862543, LOC126862544, LOC126862545, LOC126862546, LOC126862547, LOC126862548, LOC126862549, LOC129390866, LOC129390867, MIR2909, MIR378J, SNORA90, SYNRG, TADA2A 0 0 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 0 1 0 0 0 1
ABCD1 0 1 0 0 0 0 1
ABHD11, BAZ1B, BCL7B, BUD23, CLDN3, CLDN4, CLIP2, DNAJC30, EIF4H, ELN, FKBP6, FZD9, GTF2I, GTF2IRD1, LAT2, LIMK1, LOC106029311, LOC108254673, LOC111413044, LOC113748407, LOC113748408, LOC113748409, LOC113748410, LOC113748411, LOC121175345, LOC121175346, LOC121740686, LOC123956159, LOC123956160, LOC123956161, LOC123956162, LOC123956163, LOC123956164, LOC126860072, LOC126860073, LOC126860074, LOC129869689, LOC129998584, LOC129998585, LOC129998586, LOC129998587, LOC129998588, LOC129998589, LOC129998590, LOC129998591, LOC129998592, LOC129998593, LOC129998594, LOC129998595, LOC129998596, LOC129998597, LOC129998598, LOC129998599, LOC129998600, LOC129998601, LOC129998602, LOC129998603, LOC129998604, LOC129998605, LOC129998606, LOC129998607, LOC129998608, LOC129998609, LOC129998610, LOC129998611, LOC129998612, LOC129998613, LOC129998614, LOC129998615, LOC129998616, LOC129998617, LOC129998618, LOC129998619, LOC129998620, LOC129998621, LOC129998622, LOC129998623, LOC129998624, LOC129998625, LOC129998626, LOC129998627, LOC129998628, LOC129998629, LOC129998630, LOC129998631, LOC129998632, LOC129998633, LOC129998634, LOC129998635, LOC129998636, LOC129998637, LOC129998638, LOC129998639, LOC129998640, LOC129998641, LOC129998642, LOC129998643, LOC129998644, LOC129998645, LOC129998646, LOC129998647, LOC129998648, LOC129998649, LOC129998650, LOC129998651, LOC129998652, LOC129998653, LOC129998654, LOC129998655, LOC129998656, LOC129998657, LOC129998658, LOC129998659, LOC129998660, LOC129998661, LOC129998662, LOC129998663, LOC129998664, METTL27, MIR10525, MIR4284, MIR590, MLXIPL, NSUN5, RFC2, STX1A, TBL2, TMEM270, TRIM50, VPS37D 1 0 0 0 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 0 1 0 0 0 1
ABHD14A-ACY1, ACY1 0 0 1 0 0 0 1
ABL1 0 1 0 0 0 0 1
ACO2, POLR3H 1 0 0 0 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 0 1 0 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 0 0 1
ADAT3, SCAMP4 0 1 0 0 0 0 1
AFF4 0 0 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 0 1 0 0 0 1
AIFM3, CRKL, FAM230B, FAM230H, FAM246A, FAM247A, GGT2, KLHL22, LINC01637, LINC01651, LOC110121413, LOC112694767, LOC121627930, LOC121627931, LOC129391265, LOC129391266, LOC129391267, LOC129391268, LOC129391269, LOC130066995, LOC130066996, LOC130066997, LOC130066998, LOC130066999, LOC130067000, LOC130067001, LOC130067002, LOC130067003, LOC130067004, LOC130067005, LOC130067006, LOC130067007, LOC130067008, LOC130067009, LOC130067010, LOC130067011, LOC130067012, LOC130067013, LOC130067014, LOC130067015, LOC130067016, LOC130067017, LOC130067018, LOC130067019, LOC130067020, LOC132090628, LOC132090629, LOC132090630, LOC132090631, LOC132090632, LOC132090633, LOC132090634, LOC132090635, LOC132090636, LOC132090637, LOC132090638, LOC132090918, LOC132090919, LOC132090920, LRRC74B, LZTR1, MED15, MIR649, P2RX6, PI4KA, RIMBP3B, SCARF2, SERPIND1, SLC7A4, SNAP29, THAP7, USP41, ZNF74 0 0 1 0 0 0 1
AKAP8, AKAP8L, AP1M1, BRD4, CASP14, CIB3, CYP4F11, CYP4F12, CYP4F2, CYP4F22, CYP4F3, CYP4F8, EPHX3, FAM32A, HSH2D, ILVBL, LINC00661, LINC00905, LINC01855, LOC112543462, LOC113939968, LOC121627859, LOC121852982, LOC125371486, LOC125371487, LOC126862871, LOC126862872, LOC126862873, LOC128854698, LOC129391075, LOC130063806, LOC130063807, LOC130063808, LOC130063809, LOC130063810, LOC130063811, LOC130063812, LOC130063813, LOC130063814, LOC130063815, LOC130063816, LOC130063817, LOC130063818, LOC130063819, LOC130063820, LOC130063821, LOC130063822, LOC130063823, LOC130063824, LOC130063825, LOC130063826, LOC130063827, LOC130063828, LOC130063829, LOC130063830, LOC130063831, LOC130063832, LOC130063833, LOC130063834, LOC130063835, LOC130063836, LOC130063837, LOC130063838, LOC130063839, LOC130063840, LOC130063841, LOC130063842, LOC130063843, LOC130063844, LOC130063845, LOC130063846, LOC130063847, LOC130063848, LOC130063849, LOC130063850, LOC130063851, LOC130063852, LOC130063853, LOC130063854, LOC130063855, LOC130063856, LOC130063857, LOC130063858, LOC130063859, LOC130063860, LOC130063861, LOC130063862, LOC130063863, MIR1470, MIR6795, NOTCH3, OR10H1, OR10H2, OR10H3, OR10H4, OR10H5, OR1I1, PGLYRP2, RAB8A, RASAL3, SYDE1, TEKTL1, TPM4, UCA1, WIZ 1 0 0 0 0 0 1
ALAS2 0 0 1 0 0 0 1
ALDH1B1, ANKRD18A, CCIN, CLTA, CNTNAP3, DCAF10, EXOSC3, FBXO10, FRMPD1, GLIPR2, GNE, GRHPR, IGFBPL1, MELK, PAX5, POLR1E, RECK, RNF38, SHB, SLC25A51, TOMM5, TRMT10B, ZBTB5, ZCCHC7 1 0 0 0 0 0 1
ALDH1B1, ANKRD18A, CNTNAP3, DCAF10, EXOSC3, FBXO10, FRMPD1, GRHPR, IGFBPL1, MELK, PAX5, POLR1E, SHB, SLC25A51, SPATA31A1, SPATA31A3, TOMM5, TRMT10B, ZBTB5, ZCCHC7, ZNF658 1 0 0 0 0 0 1
ALDH1B1, ANKRD18A, DCAF10, EXOSC3, FBXO10, FRMPD1, GRHPR, IGFBPL1, MELK, PAX5, POLR1E, SHB, SLC25A51, TOMM5, TRMT10B, ZBTB5, ZCCHC7 1 0 0 0 0 0 1
ALDH3A2 0 0 1 0 0 0 1
ALDOA, ASPHD1, C16orf54, C16orf92, CDIPT, CDIPTOSP, DOC2A, GDPD3, HIRIP3, INO80E, KCTD13, KIF22, LOC112352680, LOC112694756, LOC116276452, LOC121587540, LOC121847976, LOC121847977, LOC125146439, LOC125146440, LOC125146441, LOC129390783, LOC130058763, LOC130058764, LOC130058765, LOC130058766, LOC130058767, LOC130058768, LOC130058769, LOC130058770, LOC130058771, LOC130058772, LOC130058773, LOC130058774, LOC130058775, LOC130058776, LOC130058777, LOC130058778, LOC130058779, LOC130058780, LOC130058781, LOC130058782, LOC130058783, LOC130058784, LOC130058785, LOC130058786, LOC130058787, LOC130058788, LOC130058789, LOC130058790, LOC130058791, LOC130058792, LOC130058793, LOC130058794, LOC130058795, LOC130058796, LOC130058797, LOC130058798, LOC130058799, LOC130058800, LOC130058801, LOC130058802, LOC130058803, LOC130058804, LOC130058805, LOC130058806, LOC130058807, LOC130058808, LOC130058809, LOC130058810, LOC130058811, LOC130058812, LOC130058813, LOC130058814, LOC130058815, MAPK3, MAZ, MVP, MVP-DT, PAGR1, PPP4C, PRRT2, QPRT, SEZ6L2, SPN, TAOK2, TBX6, TLCD3B, TMEM219, YPEL3, YPEL3-DT, ZG16 1 0 0 0 0 0 1
ALOX5AP, B3GLCT, HMGB1, HSPH1, KATNAL1, LINC00398, LINC00426, LINC00427, LINC00545, LINC01058, LOC110121384, LOC124849307, LOC124855075, LOC126861724, LOC126861725, LOC126861726, LOC126861727, LOC129390598, LOC130009489, LOC130009490, LOC130009491, LOC130009492, LOC130009493, LOC130009494, LOC130009495, LOC130009496, LOC130009497, LOC130009498, LOC130009499, LOC130009500, LOC130009501, LOC130009502, LOC130009503, LOC130009504, LOC130009505, LOC130009506, LOC130009507, LOC130009508, LOC130009509, LOC130009510, LOC130009511, LOC130009512, LOC130009513, LOC130009514, LOC130009515, LOC130009516, MEDAG, TEX26, TRN-GTT2-4, UBE2L5, USPL1 0 0 1 0 0 0 1
AMELX, ARHGAP6, FRMPD4, LOC111365193, LOC113845783, LOC113845784, LOC121853051, LOC125446271, LOC130067939, LOC130067940, LOC130067941, LOC130067942, MIR548AX, MSL3 0 0 1 0 0 0 1
AMER1 1 0 0 0 0 0 1
ANGEL2, ATF3, BATF3, FLVCR1, FLVCR1-DT, GARIN4, LINC01740, LINC02771, LINC02773, LOC110121057, LOC110121257, LOC112577538, LOC112577542, LOC115804245, LOC115804246, LOC122149494, LOC122149495, LOC122149496, LOC122149497, LOC126806003, LOC126806004, LOC129388743, LOC129388744, LOC129388745, LOC129388746, LOC129932465, LOC129932466, LOC129932467, LOC129932468, LOC129932469, LOC129932470, LOC129932471, LOC129932472, LOC129932473, LOC129932474, LOC129932475, LOC129932476, LOC129932477, LOC129932478, LOC129932479, LOC129932480, LOC129932481, LOC129932482, LOC129932483, LOC129932484, LOC129932485, LOC129932486, LOC129932487, LOC129932488, LOC129932489, LOC129932490, LOC129932491, LOC129932492, LOC129932493, LOC129932494, LOC129932495, LOC132088640, LOC132088641, LOC132088644, NENF, NSL1, PACC1, PPP2R5A, RPS6KC1, SNORA16B, SPATA45, TATDN3, VASH2 0 0 1 0 0 0 1
ANKRD11 1 0 0 0 0 0 1
ANKRD34A, ANKRD35, CD160, GPR89A, HJV, ITGA10, LIX1L, LOC106783502, LOC108254679, LOC122128419, LOC126805849, LOC126805850, LOC126805851, LOC129388601, LOC129931328, LOC129931329, LOC129931330, LOC129931331, LOC129931332, LOC129931333, LOC129931334, LOC129931335, LOC129931336, LOC129931337, LOC129931338, LOC129931339, LOC129931340, LOC129931341, LOC129931342, LOC129931343, LOC129931344, LOC129931345, LOC129931346, MIR6736, NUDT17, PDZK1, PEX11B, PIAS3, POLR3C, POLR3GL, RBM8A, RNF115, TXNIP 0 0 1 0 0 0 1
AOPEP, FANCC 1 0 0 0 0 0 1
APOB 1 0 0 0 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 0 1 0 0 0 1
ARHGEF39, ATOSB, CA9, CCDC107, CCIN, CD72, CIMIP2B, CLTA, CREB3, FAM221B, FANCG, FBXO10, FRMPD1, GBA2, GLIPR2, GNE, GRHPR, HINT2, HRCT1, MELK, MSMP, NPR2, OR13J1, OR2S2, PAX5, PIGO, POLR1E, RECK, RGP1, RMRP, RNF38, RUSC2, SIT1, SPAG8, STOML2, TESK1, TLN1, TMEM8B, TOMM5, TPM2, UNC13B, VCP, ZBTB5, ZCCHC7 1 0 0 0 0 0 1
ARL5A, LOC108348024, LOC112806054, LOC115945200, LOC120977009, LOC126806373, LOC129934916, NEB, RIF1 0 0 1 0 0 0 1
ARL6IP5, EIF4E3, EOGT, FOXP1, FOXP1-IT1, FRMD4B, GPR27, LMOD3, MITF, PROK2, RYBP, TAFA4, TMF1, UBA3 1 0 0 0 0 0 1
ASIC4, SPEG 0 0 1 0 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 0 1 0 0 0 1
ASTN2, LOC130002464, LOC130002465, LOC130002466, TRIM32 0 0 1 0 0 0 1
ASXL1 1 0 0 0 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 0 1 0 0 0 1
BAZ2B, CD302, ITGB6, LY75, LY75-CD302, MARCHF7, PLA2R1, TANC1, WDSUB1 1 0 0 0 0 0 1
BDH1, CEP19, DLG1, DYNLT2B, FBXO45, LINC00885, LINC01063, LINC02012, LOC105374308, LOC111828515, LOC112935924, LOC115995537, LOC115995538, LOC121048736, LOC121725167, LOC123464498, LOC123464499, LOC123464500, LOC123464501, LOC123464502, LOC123464503, LOC123464504, LOC123464505, LOC126806932, LOC126806933, LOC126806934, LOC126806935, LOC126806936, LOC129389196, LOC129389197, LOC129938256, LOC129938257, LOC129938258, LOC129938259, LOC129938260, LOC129938261, LOC129938262, LOC129938263, LOC129938264, LOC129938265, LOC129938266, LOC129938267, LOC129938268, LOC129938269, LOC129938270, LOC129938271, LOC129938272, LOC129938273, LOC129938274, LOC129938275, LOC129938276, LOC129938277, LOC129938278, LOC129938279, LOC129938280, LOC129938281, LOC129938282, LOC129938283, LOC129938284, LOC129938285, LOC129938286, LOC129938287, LOC129938288, LOC129938289, LOC129938290, LOC129938291, LOC129938292, LOC129938293, LOC129938294, LOC129938295, LOC129938296, LOC129938297, LOC129938298, LOC129938299, LOC129938300, LOC129938301, LOC129938302, LOC129938303, LOC129938304, LOC129938305, LOC129938306, LOC129938307, LOC129938308, LOC129938309, LOC129938310, LOC129938311, LOC129938312, LOC129938313, LOC129938314, LOC129938315, LOC129938316, MELTF, MIR4797, NCBP2, NCBP2AS2, NRROS, PAK2, PCYT1A, PIGX, PIGZ, RNF168, SENP5, SLC51A, SMCO1, TFRC, TM4SF19, TM4SF19-DYNLT2B, UBXN7, WDR53, ZDHHC19 1 0 0 0 0 0 1
BIRC6, LINC00486, LOC100271832, LOC112840924, LOC112840925, LOC122756687, LOC122756688, LOC122756689, LOC126806184, LOC129933459, LOC129933460, LOC129933461, LOC129933462, LOC132088840, LTBP1, MIR4765, MIR558, TTC27 0 0 1 0 0 0 1
BLTP3A, ILRUN, LOC111365181, LOC129996218, LOC129996219, LOC129996220, LOC129996221, LOC129996222, LOC129996223, LOC129996224, LOC129996225, LOC129996226, SNRPC 0 0 1 0 0 0 1
BRIP1 1 0 0 0 0 0 1
BRIP1, INTS2, LOC110120932, LOC130061360, LOC130061361, LOC130061362, MED13 0 0 1 0 0 0 1
C8orf48, DLC1, LOC102725080, LOC132090783 0 0 1 0 0 0 1
CABP2 0 0 1 0 0 0 1
CACNA1C 0 0 1 0 0 0 1
CAD, LOC126806171 0 0 1 0 0 0 1
CAPS2, GLIPR1, GLIPR1L1, GLIPR1L2, KCNC2, KRR1, LOC100130268, LOC124629407, LOC129390507, LOC130008300, LOC130008301, LOC130008302, LOC130008303 0 0 1 0 0 0 1
CASR 0 0 1 0 0 0 1
CCDC103 1 0 0 0 0 0 1
CCDC22 0 0 1 0 0 0 1
CCNH, RASA1 1 0 0 0 0 0 1
CCNQ 0 1 0 0 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 0 1 0 0 0 1
CD96 0 0 1 0 0 0 1
CDH1 0 0 1 0 0 0 1
CDK10 0 1 0 0 0 0 1
CDK13 1 0 0 0 0 0 1
CFAP69, FAM237B, GTPBP10, LOC101927446, LOC129998766, LOC129998767, LOC129998768, LOC129998769, LOC129998770, LOC129998771, STEAP1, STEAP2 0 0 1 0 0 0 1
CFH 0 0 1 0 0 0 1
CHAMP1 1 0 0 0 0 0 1
CHD7, LOC126860403 0 0 1 0 0 0 1
CHD8 0 0 1 0 0 0 1
CHFR, CHFR-DT, GOLGA3, LOC126861700, LOC126861701, LOC130009274, LOC130009275, LOC130009276, LOC130009277, LOC130009278, LOC130009279, LOC130009280, LOC130009281, LOC132090863, ZNF605 0 0 1 0 0 0 1
CHRFAM7A, GOLGA8R, GOLGA8T, LINC02249, LOC100996413, LOC106736464 0 0 1 0 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 0 1 0 0 0 1
CHRNG 1 0 0 0 0 0 1
CLTRN 1 0 0 0 0 0 1
CLUAP1, CREBBP, DNASE1, LOC130058339, LOC130058340, LOC130058341, LOC130058342, LOC130058343, LOC130058344, LOC130058345, LOC130058346, LOC130058347, LOC130058348, LOC130058349, LOC130058350, LOC130058351, LOC130058352, NLRC3, SLX4, TRAP1 0 0 1 0 0 0 1
CNGB3 1 0 0 0 0 0 1
CNTNAP2 0 0 1 0 0 0 1
COL18A1 1 0 0 0 0 0 1
COL4A1 0 0 1 0 0 0 1
CSMD1, LOC107522030, LOC123987610 0 0 1 0 0 0 1
CSNK2A3, GALNT18 0 1 0 0 0 0 1
CTNNB1 0 1 0 0 0 0 1
CUL4B, LOC113845788 0 0 1 0 0 0 1
CYFIP1, LOC112272575, LOC126862074, LOC130056709, LOC130056710, LOC130056711, LOC130056712, LOC130056713, LOC130056714, LOC130056715, LOC130056716, LOC130056717, LOC130056718, NIPA1, NIPA2, TUBGCP5 0 0 1 0 0 0 1
CYFIP1, LOC112272575, LOC126862074, LOC130056712, LOC130056713, LOC130056714, LOC130056715, LOC130056716, LOC130056717, LOC130056718, NIPA1, NIPA2, TUBGCP5 0 0 1 0 0 0 1
CYFIP1, LOC112272575, LOC126862074, LOC130056713, LOC130056714, LOC130056715, LOC130056716, LOC130056717, LOC130056718, NIPA1, NIPA2, TUBGCP5 0 0 1 0 0 0 1
DIPK2A, LOC129937722, LOC129937723 0 0 1 0 0 0 1
DISP1 0 0 1 0 0 0 1
DKC1, LOC130068886 0 0 0 1 0 0 1
DNAH11 0 0 1 0 0 0 1
DOCK8, FOXD4, LINC01388, LOC110120718, LOC124210604, LOC129390061, LOC130001433, LOC130001434, LOC130001435, LOC130001436, LOC130001437, LOC130001438, PGM5P3, ZNG1A 0 0 1 0 0 0 1
DPH1 1 0 0 0 0 0 1
DTNA 0 0 1 0 0 0 1
DUSP22, LOC129995536, LOC129995537, LOC129995538 0 0 1 0 0 0 1
EDAR, RANBP2 0 0 1 0 0 0 1
EHMT1 1 0 0 0 0 0 1
EXT1 0 0 1 0 0 0 1
FABP12, FABP4, FABP5, FABP9, IMPA1, LNMICC, LOC105375924, LOC124174284, LOC126860430, LOC130000668, LOC130000669, LOC130000670, LOC130000671, LOC130000672, LOC130000673, LOC130000674, LOC130000675, LOC130000676, LOC130000677, LOC130000678, LOC130000679, LOC130000680, LOC130000681, PAG1, PMP2 0 0 1 0 0 0 1
FANCD2, LOC107303338 1 0 0 0 0 0 1
FANCI 1 0 0 0 0 0 1
FANCL, VRK2 0 0 1 0 0 0 1
FANCM 0 0 1 0 0 0 1
FGFR1 0 0 1 0 0 0 1
FGFR2 0 0 1 0 0 0 1
FOXC2 1 0 0 0 0 0 1
FOXF1 1 0 0 0 0 0 1
FOXL2 1 0 0 0 0 0 1
FOXP1 1 0 0 0 0 0 1
FOXR2 0 0 1 0 0 0 1
FZD5 0 0 1 0 0 0 1
GABRA1, GABRA6, LINC01202 0 0 1 0 0 0 1
GAN 1 0 0 0 0 0 1
GATA4 1 0 0 0 0 0 1
GHR, LOC107963949 0 0 1 0 0 0 1
GJA1 1 0 0 0 0 0 1
GJB2 1 0 0 0 0 0 1
GLB1 1 0 0 0 0 0 1
GLDC, LOC111413010, LOC130001539, LOC130001540, LOC130001541 0 0 1 0 0 0 1
GLI2 1 0 0 0 0 0 1
GLI3 0 0 0 0 0 1 1
GNAI1 0 0 1 0 0 0 1
GPC3, LOC130068717, LOC130068718 1 0 0 0 0 0 1
GPC5 0 0 0 0 1 0 1
GRIN2B 0 1 0 0 0 0 1
GRIP1 0 0 1 0 0 0 1
HCCS 0 1 0 0 0 0 1
HEXA 1 0 0 0 0 0 1
HOXD13 0 0 0 1 0 0 1
IDS, LOC106050102 0 0 1 0 0 0 1
ITPRID2, LOC126806441, LOC129388962, LOC129388963, LOC129388964, PDE1A, PPP1R1C 0 0 1 0 0 0 1
JAG1 0 0 1 0 0 0 1
KANSL1 1 0 0 0 0 0 1
KANSL1, LOC129390878, LRRC37A 0 0 1 0 0 0 1
KAT6A 1 0 0 0 0 0 1
KCNQ2 0 1 0 0 0 0 1
KDM6A 1 0 0 0 0 0 1
KIF2A 0 1 0 0 0 0 1
KIF4A 0 0 1 0 0 0 1
KIF7 0 0 1 0 0 0 1
KIF7, LOC126862216 0 0 1 0 0 0 1
KLHL40 0 1 0 0 0 0 1
KMT2A 0 1 0 0 0 0 1
KMT2D, LOC126861520 0 0 1 0 0 0 1
LHFPL6, LOC105370169, LOC124855089, LOC130009589, LOC130009590, LOC130009591, LOC130009592, LOC132090191, LOC132090192, LOC132090193, NHLRC3, PROSER1, STOML3 0 0 1 0 0 0 1
LINC01506, LOC130001851, LOC130001852, LOC130001853, LOC130001854, LOC130001855, LOC130001856, LOC130001857, PGM5, PIP5K1B, TMEM252, TMEM252-DT 0 0 1 0 0 0 1
LINC02284, PELI2 0 0 1 0 0 0 1
LINC02604, LOC121740683, LOC121740684, LOC123956156, LOC126860057, LOC129389807, LOC129389808, LOC129998538, LOC129998539, LOC129998540, LOC129998541, LOC129998542, LOC129998543, MIR4650-1, RABGEF1, SBDS, TMEM248, TYW1 0 0 1 0 0 0 1
LIX1L, LOC126805851, RBM8A 1 0 0 0 0 0 1
LMX1B 0 0 1 0 0 0 1
LOC100131472, LOC110120772, LOC113687186, LOC129389744, LOC129389745, LOC129389746, LOC129997992, LOC129997993, LOC129997994, LOC129997995, MGC4859, NDUFA4, PHF14 0 0 1 0 0 0 1
LOC101928438, LOC126860703, LOC130002242, LOC130002243, NR4A3 0 0 1 0 0 0 1
LOC105371856, TANC2 0 0 1 0 0 0 1
LOC105376032, PAX5 1 0 0 0 0 0 1
LOC106029241, LOC121627957, LOC125446266, LOC126863198, LOC126863199, LOC126863200, LOC130067919, LOC130067920, LOC130067921, LOC130067922, MIR651, PNPLA4, VCX2, VCX3B 0 0 1 0 0 0 1
LOC110121332, LOC112268271, LOC121627898, LOC130065517, LOC130065518, NKX2-2, NKX2-4, XRN2 0 0 1 0 0 0 1
LOC125467766, TENT5D 0 0 1 0 0 0 1
LOC126807212, TLL1 0 0 1 0 0 0 1
LOC126859869, LOC126859870, LOC126859871, PRKN 0 0 1 0 0 0 1
LOC126860075, POR 1 0 0 0 0 0 1
LOC129938140, LPP, MIR28 0 0 1 0 0 0 1
LOC129991944, LOC129991945, LOC129991946, ZNF595, ZNF718 0 0 1 0 0 0 1
LOC129996857, NDUFAF4 0 0 1 0 0 0 1
LOC130004065, MICU1 1 0 0 0 0 0 1
LOC130064193, SCGB2B2, UBA2, WTIP 1 0 0 0 0 0 1
LOC130065435, LOC130065436, LOC130065437, LOC130065438, LOC132090562, LOC132090563, LOC132090564, LOC132090565, MACROD2 0 0 0 0 1 0 1
LOC130065980, SLC12A5 0 0 1 0 0 0 1
LOC132089565, LOC132089566, LOC132089567, LOC132089568, LOC132089569, LOC132089570, LOC132089571, LOC132089572, LOC132089573, LOC132089574, LOC132089575, LOC132089576, LOC132089577, LOC132205968, LOC132205969, SGCZ 0 0 1 0 0 0 1
LRBA, MAB21L2 1 0 0 0 0 0 1
LRRC37A2, NSF 1 0 0 0 0 0 1
MAGEA1 0 0 1 0 0 0 1
MAGEL2 1 0 0 0 0 0 1
MAP3K20 1 0 0 0 0 0 1
MCPH1 1 0 0 0 0 0 1
MCTP2 0 0 1 0 0 0 1
MECP2 1 0 0 0 0 0 1
MED12 1 0 0 0 0 0 1
MED13L 0 0 1 0 0 0 1
MID1 1 0 0 0 0 0 1
MKKS 1 0 0 0 0 0 1
MMACHC 1 0 0 0 0 0 1
MNX1 0 1 0 0 0 0 1
MPV17 0 0 1 0 0 0 1
MYBPC3 1 0 0 0 0 0 1
MYCN 0 0 1 0 0 0 1
MYH7 0 1 0 0 0 0 1
NAA10 1 0 0 0 0 0 1
NAA15 1 0 0 0 0 0 1
NEB 0 0 1 0 0 0 1
NEB, RIF1 0 1 0 0 0 0 1
NEDD4L 0 1 0 0 0 0 1
NKX2-1, SFTA3 1 0 0 0 0 0 1
NPHP4 0 0 1 0 0 0 1
NRXN1 0 0 1 0 0 0 1
OTX2 1 0 0 0 0 0 1
PACS1 1 0 0 0 0 0 1
PACS2 1 0 0 0 0 0 1
PAX2 1 0 0 0 0 0 1
PAX6 1 0 0 0 0 0 1
PDHA1 1 0 0 0 0 0 1
PDZD2 0 0 1 0 0 0 1
PHOX2B 0 1 0 0 0 0 1
PIEZO2 0 0 1 0 0 0 1
PIK3CA 1 0 0 0 0 0 1
PMS2 1 0 0 0 0 0 1
POGZ 0 1 0 0 0 0 1
POLG, POLGARF 1 0 0 0 0 0 1
POR 1 0 0 0 0 0 1
PPP2R5D 1 0 0 0 0 0 1
PQBP1 1 0 0 0 0 0 1
PSMA7 0 0 1 0 0 0 1
PTEN 1 0 0 0 0 0 1
PTPN11 1 0 0 0 0 0 1
PUF60 1 0 0 0 0 0 1
RAB3GAP2 1 0 0 0 0 0 1
RAC1 0 1 0 0 0 0 1
RAD51 0 1 0 0 0 0 1
RET 0 1 0 0 0 0 1
ROBO4 0 0 0 0 0 1 1
RP1L1 0 0 1 0 0 0 1
SDHAF1 1 0 0 0 0 0 1
SETD2 1 0 0 0 0 0 1
SETD5 1 0 0 0 0 0 1
SKI 0 0 1 0 0 0 1
SLC12A3 1 0 0 0 0 0 1
SLC20A2 1 0 0 0 0 0 1
SLC2A10 0 0 1 0 0 0 1
SLC44A4 0 0 1 0 0 0 1
SMARCC2 0 0 1 0 0 0 1
SOS1 0 0 1 0 0 0 1
SPECC1L, SPECC1L-ADORA2A 0 0 1 0 0 0 1
SPEG 0 0 1 0 0 0 1
SPTB 0 0 1 0 0 0 1
STIL 0 0 1 0 0 0 1
TBL1XR1 0 0 1 0 0 0 1
TBX3 0 1 0 0 0 0 1
TBX5 0 0 1 0 0 0 1
TCF12 0 1 0 0 0 0 1
TCTN3 1 0 0 0 0 0 1
TENM1 0 0 1 0 0 0 1
TG 1 0 0 0 0 0 1
THOC2 0 0 1 0 0 0 1
TMEM138 1 0 0 0 0 0 1
TRAF7 0 1 0 0 0 0 1
TUBA1A 1 0 0 0 0 0 1
TUBGCP6 0 0 1 0 0 0 1
UBA2 1 0 0 0 0 0 1
WT1 1 0 0 0 0 0 1
ZBTB20 0 1 0 0 0 0 1
ZEB2 1 0 0 0 0 0 1
ZNF711 1 0 0 0 0 0 1
ZSWIM6 1 0 0 0 0 0 1

Condition and significance breakdown #

Total conditions: 246
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
Anomalous pulmonary venous return 2 0 21 0 0 0 23
Diaphragmatic hernia 0 0 23 0 0 0 23
See cases 4 0 10 0 2 0 16
Neurodevelopmental disorder 15 0 0 0 0 0 15
Kabuki syndrome 1 9 1 3 0 0 0 13
Congenital diaphragmatic hernia 0 2 2 0 0 7 11
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart 8 2 1 0 0 0 11
BAZ2B-related disorder 4 4 0 0 0 0 8
CHARGE association 6 0 1 0 0 0 7
Donnai-Barrow syndrome 0 1 6 0 0 0 7
Cardiac-urogenital syndrome 3 0 1 0 0 0 4
Intellectual disability, autosomal dominant 14 2 0 2 0 0 0 4
Intellectual disability, autosomal dominant 16 1 3 0 0 0 0 4
Intellectual disability, autosomal dominant 48 1 2 1 0 0 0 4
Rubinstein-Taybi syndrome due to CREBBP mutations 4 0 0 0 0 0 4
ALG12-congenital disorder of glycosylation 3 0 0 0 0 0 3
Chromosome 15q11.2 deletion syndrome 0 0 3 0 0 0 3
Congenital muscular hypertrophy-cerebral syndrome 1 0 2 0 0 0 3
Fanconi anemia complementation group D1 3 0 0 0 0 0 3
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 2 0 1 0 0 0 3
Syndromic X-linked intellectual disability 34 3 0 0 0 0 0 3
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder 2 0 0 0 0 0 2
Acrocallosal syndrome 0 0 2 0 0 0 2
Aminoacylase 1 deficiency 0 1 1 0 0 0 2
Autosomal recessive nonsyndromic hearing loss 84A 0 0 1 1 0 0 2
BRAT1-related disorder 0 1 0 1 0 0 2
Bardet-Biedl syndrome 1 2 0 0 0 0 0 2
CHIME syndrome 1 1 0 0 0 0 2
Cenani-Lenz syndactyly syndrome 0 0 2 0 0 0 2
Charlevoix-Saguenay spastic ataxia 0 0 1 1 0 0 2
Cornea plana 2 0 0 2 0 0 0 2
Cornelia de Lange syndrome 1 0 1 1 0 0 0 2
Deficiency of iodide peroxidase 1 0 1 0 0 0 2
Diaphragmatic hernia 3 2 0 0 0 0 0 2
Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome 0 0 2 0 0 0 2
Dubin-Johnson syndrome 0 0 2 0 0 0 2
Ehlers-Danlos syndrome, spondylodysplastic type, 2 0 0 2 0 0 0 2
Focal dermal hypoplasia 2 0 0 0 0 0 2
GNPTAB-related disorder 2 0 0 0 0 0 2
Geleophysic dysplasia 1 0 0 2 0 0 0 2
HSPG2-realted disorder 0 0 2 0 0 0 2
Infantile liver failure syndrome 1 0 0 2 0 0 0 2
Intellectual disability, X-linked 102 1 1 0 0 0 0 2
Intellectual disability, X-linked 99, syndromic, female-restricted 1 1 0 0 0 0 2
Intellectual disability, autosomal recessive 3 0 0 1 1 0 0 2
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome 0 0 2 0 0 0 2
Joubert syndrome 6 0 0 2 0 0 0 2
Kostmann syndrome 1 0 1 0 0 0 2
Mandibulofacial dysostosis-microcephaly syndrome 2 0 0 0 0 0 2
Microcephaly 4, primary, autosomal recessive 0 1 1 0 0 0 2
Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome 1 0 1 0 0 0 2
Mullegama-Klein-Martinez syndrome 1 0 1 0 0 0 2
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 0 0 2 0 0 0 2
Myopathy, centronuclear, 5 0 0 2 0 0 0 2
Nemaline myopathy 2 0 1 1 0 0 0 2
Neuroocular syndrome 2 0 0 0 0 0 2
Oculocerebrofacial syndrome, Kaufman type 1 0 1 0 0 0 2
Oculofaciocardiodental syndrome 0 0 2 0 0 0 2
Orofaciodigital syndrome type 14 0 0 1 0 1 0 2
POR-related disorder 2 0 0 0 0 0 2
Pitt-Hopkins syndrome 2 0 0 0 0 0 2
Pontocerebellar hypoplasia type 3 0 0 2 0 0 0 2
RYR1-Related Disorder 0 0 2 0 0 0 2
SCLT1-related disorder 0 0 2 0 0 0 2
Sandhoff disease 1 0 1 0 0 0 2
Smith-Lemli-Opitz syndrome 2 0 0 0 0 0 2
Townes-Brocks syndrome 1 1 0 1 0 0 0 2
Tracheoesophageal fistula 0 0 2 0 0 0 2
UBA2-related disorder 2 0 0 0 0 0 2
Warburg micro syndrome 1 2 0 0 0 0 0 2
22q11.2 central deletion syndrome 0 0 1 0 0 0 1
8q24.3 microdeletion syndrome 1 0 0 0 0 0 1
APOB-related disorder 1 0 0 0 0 0 1
ATP7A-realted disorder 0 0 1 0 0 0 1
Achromatopsia 3 1 0 0 0 0 0 1
Acromelic frontonasal dysostosis 1 0 0 0 0 0 1
Adrenoleukodystrophy 0 1 0 0 0 0 1
Al Kaissi syndrome 0 1 0 0 0 0 1
Alagille syndrome due to a JAG1 point mutation 0 0 1 0 0 0 1
Alveolar capillary dysplasia with pulmonary venous misalignment 1 0 0 0 0 0 1
Aminoaciduria 1 0 0 0 0 0 1
Arterial tortuosity syndrome 0 0 1 0 0 0 1
Atrial septal defect 2; Ventricular septal defect 1 1 0 0 0 0 0 1
Atrial septal defect 6 0 0 1 0 0 0 1
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome 1 0 0 0 0 0 1
Autosomal recessive limb-girdle muscular dystrophy type 2J 0 0 1 0 0 0 1
Autosomal recessive multiple pterygium syndrome; Lethal multiple pterygium syndrome 1 0 0 0 0 0 1
Autosomal recessive nonsyndromic hearing loss 1A 1 0 0 0 0 0 1
Autosomal recessive nonsyndromic hearing loss 93 0 0 1 0 0 0 1
Baraitser-Winter syndrome 1 0 1 0 0 0 0 1
Blepharocheilodontic syndrome 1 0 0 1 0 0 0 1
Blepharophimosis - intellectual disability syndrome, SBBYS type 1 0 0 0 0 0 1
Blepharophimosis, ptosis, and epicanthus inversus syndrome 1 0 0 0 0 0 1
Bohring-Opitz syndrome 1 0 0 0 0 0 1
Brachydactyly-syndactyly syndrome 0 0 0 1 0 0 1
Brain small vessel disease 1 with or without ocular anomalies 0 0 1 0 0 0 1
C syndrome 0 0 1 0 0 0 1
CACNA1C-related disorder 0 0 1 0 0 0 1
CFH-related disorder 0 0 1 0 0 0 1
Capillary malformation-arteriovenous malformation 1 1 0 0 0 0 0 1
Cardiac, facial, and digital anomalies with developmental delay 0 1 0 0 0 0 1
Chromosome 19p13.13 deletion syndrome 1 0 0 0 0 0 1
Cobalamin C disease 1 0 0 0 0 0 1
Coffin-Siris syndrome 8 0 0 1 0 0 0 1
Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome 0 0 1 0 0 0 1
Colobomatous microphthalmia-rhizomelic dysplasia syndrome 1 0 0 0 0 0 1
Complex cortical dysplasia with other brain malformations 3 0 1 0 0 0 0 1
Congenital central hypoventilation 0 1 0 0 0 0 1
Congenital heart defects and skeletal malformations syndrome 0 1 0 0 0 0 1
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder 1 0 0 0 0 0 1
Cowden syndrome 1 1 0 0 0 0 0 1
Currarino triad 0 1 0 0 0 0 1
DNAH11-related disorder 0 0 1 0 0 0 1
Developmental and epileptic encephalopathy 96 1 0 0 0 0 0 1
Developmental and epileptic encephalopathy, 27 0 1 0 0 0 0 1
Developmental and epileptic encephalopathy, 34 0 0 1 0 0 0 1
Developmental and epileptic encephalopathy, 50 0 0 1 0 0 0 1
Developmental and epileptic encephalopathy, 66 1 0 0 0 0 0 1
Developmental delay with short stature, dysmorphic facial features, and sparse hair 1 1 0 0 0 0 0 1
Diaphragmatic eventration 0 0 1 0 0 0 1
Dilated cardiomyopathy 1S 0 1 0 0 0 0 1
Distichiasis-lymphedema syndrome 1 0 0 0 0 0 1
Drash syndrome 1 0 0 0 0 0 1
Duane-radial ray syndrome 1 0 0 0 0 0 1
Dyskeratosis congenita, X-linked 0 0 0 1 0 0 1
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant 0 0 1 0 0 0 1
Esophageal atresia 0 0 1 0 0 0 1
Exostoses, multiple, type 1 0 0 1 0 0 0 1
FANCM-related disorder 0 0 1 0 0 0 1
FGFR1-related disorder 0 0 1 0 0 0 1
FGFR2-realated disorder 0 0 1 0 0 0 1
FGFR3-related disoder 0 0 1 0 0 0 1
FGFR3-related disorder 1 0 0 0 0 0 1
FZD5-related disorder 0 0 1 0 0 0 1
Familial hypokalemia-hypomagnesemia 1 0 0 0 0 0 1
Fanconi anemia complementation group C 1 0 0 0 0 0 1
Fanconi anemia complementation group D2 1 0 0 0 0 0 1
Fanconi anemia complementation group I 1 0 0 0 0 0 1
Fanconi anemia complementation group J 1 0 0 0 0 0 1
Fanconi anemia complementation group L 0 0 1 0 0 0 1
Fanconi anemia complementation group R 0 1 0 0 0 0 1
Feingold syndrome type 1 0 0 1 0 0 0 1
Fraser syndrome 1 0 0 1 0 0 0 1
Fraser syndrome 3 0 0 1 0 0 0 1
GLB1-related disorder 1 0 0 0 0 0 1
GNAI1-related disorder 0 0 1 0 0 0 1
Giant axonal neuropathy 1 1 0 0 0 0 0 1
Gordon syndrome 0 0 1 0 0 0 1
Hearing loss, autosomal dominant 72 0 0 1 0 0 0 1
Hereditary spherocytosis type 2 0 0 1 0 0 0 1
Hirschsprung disease, susceptibility to, 1 0 1 0 0 0 0 1
Hogue-Janssens syndrome 1 1 0 0 0 0 0 1
Holt-Oram syndrome 0 0 1 0 0 0 1
Hypertrophic cardiomyopathy 4 1 0 0 0 0 0 1
Idiopathic basal ganglia calcification 1 1 0 0 0 0 0 1
Intellectual developmental disorder with autism and macrocephaly 0 0 1 0 0 0 1
Intellectual developmental disorder with autistic features and language delay, with or without seizures 0 0 1 0 0 0 1
Intellectual disability, X-linked 100 0 0 1 0 0 0 1
Intellectual disability, X-linked 97 1 0 0 0 0 0 1
Intellectual disability, autosomal dominant 40 1 0 0 0 0 0 1
Intellectual disability, autosomal dominant 50 1 0 0 0 0 0 1
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency 1 0 0 0 0 0 1
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome 0 1 0 0 0 0 1
Intellectual disability-severe speech delay-mild dysmorphism syndrome 1 0 0 0 0 0 1
Intellectual disability-strabismus syndrome 0 1 0 0 0 0 1
Iodotyrosyl coupling defect 1 0 0 0 0 0 1
Joubert syndrome 16 1 0 0 0 0 0 1
KAT6B-realted disoder 1 0 0 0 0 0 1
KBG syndrome 1 0 0 0 0 0 1
KCNQ2-Related Disorders 0 1 0 0 0 0 1
Kabuki syndrome 2 1 0 0 0 0 0 1
Kleefstra syndrome 1 1 0 0 0 0 0 1
Knobloch syndrome 1 1 0 0 0 0 0 1
Koolen-de Vries syndrome 1 0 0 0 0 0 1
LEOPARD syndrome 1 1 0 0 0 0 0 1
Left ventricular noncompaction 1 0 0 1 0 0 0 1
Linear skin defects with multiple congenital anomalies 1 0 1 0 0 0 0 1
Lissencephaly due to TUBA1A mutation 1 0 0 0 0 0 1
Luscan-Lumish syndrome 1 0 0 0 0 0 1
Lynch syndrome 4 1 0 0 0 0 0 1
MED12-related disorder 1 0 0 0 0 0 1
McKusick-Kaufman syndrome 1 0 0 0 0 0 1
Microcephaly 1, primary, autosomal recessive 1 0 0 0 0 0 1
Microcephaly 7, primary, autosomal recessive 0 0 1 0 0 0 1
Microcephaly and chorioretinopathy 1 0 0 1 0 0 0 1
Microphthalmia, syndromic 12 0 1 0 0 0 0 1
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) 0 0 1 0 0 0 1
Mitochondrial complex I deficiency, nuclear type 1 0 0 1 0 0 0 1
Mitochondrial complex II deficiency, nuclear type 1 1 0 0 0 0 0 1
Mowat-Wilson syndrome 1 0 0 0 0 0 1
Mucopolysaccharidosis, MPS-II 0 0 1 0 0 0 1
NAA10-related disorder 1 0 0 0 0 0 1
NKX2-1-related disorder 1 0 0 0 0 0 1
Nail-patella syndrome 0 0 1 0 0 0 1
Nemaline myopathy 8 0 1 0 0 0 0 1
Neonatal severe primary hyperparathyroidism 0 0 1 0 0 0 1
Noonan syndrome 1 1 0 0 0 0 0 1
Noonan syndrome 4 0 0 1 0 0 0 1
OTX2-related disorder 1 0 0 0 0 0 1
Occult macular dystrophy 0 0 1 0 0 0 1
Oculodentodigital dysplasia 1 0 0 0 0 0 1
Okur-Chung neurodevelopmental syndrome 0 1 0 0 0 0 1
Optic atrophy 9 1 0 0 0 0 0 1
Osteopathia striata with cranial sclerosis 1 0 0 0 0 0 1
PAX6-related disorder 1 0 0 0 0 0 1
PDZD2-related disorder 0 0 1 0 0 0 1
PIK3CA-related disorder 1 0 0 0 0 0 1
POLG-related disorder 1 0 0 0 0 0 1
PSMA7-related disorder 0 0 1 0 0 0 1
Periventricular nodular heterotopia 7 0 1 0 0 0 0 1
Pitt-Hopkins-like syndrome 2 0 0 1 0 0 0 1
Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome 1 0 0 0 0 0 1
Primary ciliary dyskinesia 17 1 0 0 0 0 0 1
Primrose syndrome 0 1 0 0 0 0 1
Pyruvate dehydrogenase E1-alpha deficiency 1 0 0 0 0 0 1
Radial aplasia-thrombocytopenia syndrome 1 0 0 0 0 0 1
Renal coloboma syndrome 1 0 0 0 0 0 1
Renpenning syndrome 1 0 0 0 0 0 1
Rett syndrome 1 0 0 0 0 0 1
Ritscher-Schinzel syndrome 2 0 0 1 0 0 0 1
SALL4-related disorder 0 0 1 0 0 0 1
Schaaf-Yang syndrome 1 0 0 0 0 0 1
Schuurs-Hoeijmakers syndrome 1 0 0 0 0 0 1
Senior-Loken syndrome 4 0 0 1 0 0 0 1
Severe intellectual disability-progressive spastic diplegia syndrome 0 1 0 0 0 0 1
Shprintzen-Goldberg syndrome 0 0 1 0 0 0 1
Simpson-Golabi-Behmel syndrome type 1 1 0 0 0 0 0 1
Sjögren-Larsson syndrome 0 0 1 0 0 0 1
Split-foot malformation-mesoaxial polydactyly syndrome 1 0 0 0 0 0 1
Syndactyly-telecanthus-anogenital and renal malformations syndrome 0 1 0 0 0 0 1
TBL1XR1-Related Disorder 0 0 1 0 0 0 1
TCF12-related craniosynostosis 0 1 0 0 0 0 1
TCTN3-related disorder 1 0 0 0 0 0 1
TTN-Related disorder 1 0 0 0 0 0 1
Tay-Sachs disease 1 0 0 0 0 0 1
Teebi hypertelorism syndrome 1 0 0 1 0 0 0 1
Thanatophoric dysplasia type 1 1 0 0 0 0 0 1
Transposition of the great arteries, dextro-looped 0 0 1 0 0 0 1
Ulnar-mammary syndrome 0 1 0 0 0 0 1
Warburg micro syndrome 2 1 0 0 0 0 0 1
Wiedemann-Steiner syndrome 0 1 0 0 0 0 1
Williams syndrome 1 0 0 0 0 0 1
X-linked Opitz G/BBB syndrome 1 0 0 0 0 0 1
X-linked intellectual disability Cabezas type 0 0 1 0 0 0 1
X-linked intellectual disability-short stature-overweight syndrome 0 0 1 0 0 0 1
X-linked sideroblastic anemia 1 0 0 1 0 0 0 1

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