ClinVar Miner

Variants from Medical Cytogenetics and Molecular Genetics Laboratory, IRCCS Istituto Auxologico Italiano

Location: Italy  Primary collection method: research
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
39 42 58 37 15 190

Gene and significance breakdown #

Total genes and gene combinations: 153
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
ANKRD11 19 1 1 3 2 26
​intergenic 0 0 3 4 0 7
DUSP22, LOC126859546, LOC129389424, LOC129995536, LOC129995537, LOC129995538, LOC129995539, LOC129995540, LOC129995541, LOC129995542, LOC129995543, LOC129995544, LOC129995545, LOC129995546, LOC129995547, LOC129995548, LOC129995549, LOC129995550, LOC129995551, LOC129995552, LOC129995553, LOC129995554, LOC129995555, LOC129995556, LOC129995557, LOC129995558, LOC129995559, LOC129995560, LOC129995561, LOC129995562 0 0 0 0 4 4
CYP2E1, LOC110599585, LOC126861107, LOC130005034, LOC130005035, LOC130005036, SCART1, SYCE1 0 0 3 0 0 3
RYR3 0 1 2 0 0 3
CNTLN, LOC110120694 0 0 0 2 0 2
CYP2E1, LOC110599585, LOC126861107, LOC129390242, LOC130005033, LOC130005034, LOC130005035, LOC130005036, SCART1, SYCE1 0 1 1 0 0 2
LOC111162621, LOC129938147, MIR944, TP63 0 0 2 0 0 2
LRRC41, RAD54L 0 2 0 0 0 2
NOS3 0 2 0 0 0 2
SETD5 2 0 0 0 0 2
ABHD2, CARMAL, LOC126862213, LOC130057869, LOC130057870 0 0 0 1 0 1
ABL2, ACBD6, ANGPTL1, ANKRD45, ASTN1, AXDND1, BRINP2, CACNA1E, CACYBP, CENPL, CEP350, COP1, DARS2, DHX9, FAM163A, FAM20B, GAS5, GLUL, GPR52, IER5, KIAA0040, KIAA1614, KLHL20, LAMC1, LAMC2, LHX4, MR1, MRPS14, NCF2, NMNAT2, NPHS2, NPL, PAPPA2, PRDX6, QSOX1, RABGAP1L, RALGPS2, RASAL2, RC3H1, RGS16, RGS8, RGSL1, RNASEL, SEC16B, SERPINC1, SHCBP1L, SLC9C2, SMG7, SOAT1, STX6, TDRD5, TEDDM1, TEX35, TNFSF18, TNFSF4, TNN, TNR, TOR1AIP1, TOR1AIP2, TOR3A, XPR1, ZBTB37, ZNF648 1 0 0 0 0 1
ABR, BHLHA9, CRK, LOC112529892, LOC121848004, LOC130059873, LOC130059874, LOC130059875, LOC130059876, TRARG1, YWHAE 1 0 0 0 0 1
ACKR3 0 0 1 0 0 1
ACOD1, ALG11, ARL11, ATP7B, ATXN8OS, BORA, C13orf42, CAB39L, CCDC70, CDADC1, CKAP2, CKAP2-DT, CLN5, CNMD, COMMD6, CYSLTR2, DACH1, DHRS12, DIAPH3, DIS3, DLEU1, DLEU2, DLEU7, EBPL, EDNRB, FAM124A, FBXL3, FNDC3A, HNRNPA1L2, INTS6, ITM2B, KCNRG, KCTD12, KLF12, KLF5, KLHL1, KPNA3, LINC00331, LINC00333, LINC00345, LINC00347, LINC00348, LINC00351, LINC00355, LINC00358, LINC00364, LINC00374, LINC00375, LINC00376, LINC00377, LINC00378, LINC00381, LINC00382, LINC00383, LINC00392, LINC00393, LINC00395, LINC00402, LINC00430, LINC00434, LINC00444, LINC00446, LINC00448, LINC00458, LINC00459, LINC00462, LINC00550, LINC00558, LINC00561, LINC00562, LINC00564, LINC01038, LINC01052, LINC01065, LINC01068, LINC01069, LINC01074, LINC01075, LINC01077, LINC01078, LINC01080, LINC01442, LINC02333, LINC02335, LINC02338, LINC02339, LMO7, LMO7DN, LMO7DN-IT1, LOC100129307, LOC100288208, LOC101929657, LOC102723968, LOC105370203, LOC105370259, LOC105370268, LOC107457599, LOC107882127, LOC107882129, LOC109461478, LOC110120827, LOC110120828, LOC110120829, LOC110120830, LOC110120831, LOC110120832, LOC110120833, LOC110120834, LOC110120843, LOC110120891, LOC110120897, LOC110120909, LOC110120945, LOC110120946, LOC110120950, LOC110121360, LOC110121375, LOC111365190, LOC112163662, LOC112163663, LOC112163664, LOC112163665, LOC112163666, LOC112163667, LOC112163668, LOC112163669, LOC112163670, LOC112163671, LOC112163672, LOC112267897, LOC113939939, LOC121466733, LOC121468000, LOC121468001, LOC121838575, LOC121838576, LOC121838577, LOC121838578, LOC121838579, LOC121838580, LOC124885095, LOC124885096, LOC124885097, LOC124885098, LOC124900138, LOC124900139, LOC124900140, LOC124900141, LOC124900142, LOC124900143, LOC124900144, LOC124900146, LOC124900147, LOC124900148, LOC124900149, LOC124900150, LOC124900151, LOC124900152, LOC124900153, LOC124900154, LOC124900155, LOC124900156, LOC124900157, LOC124900158, LOC124900159, LOC124900160, LOC124900161, LOC124909500, LOC124909501, LOC124909502, LOC124909503, LOC124909504, LOC124909505, LOC126861767, LOC126861768, LOC126861769, LOC126861770, LOC126861771, LOC126861772, LOC126861773, LOC126861774, LOC126861775, LOC126861776, LOC126861777, LOC126861778, LOC126861779, LOC126861780, LOC126861781, LOC126861782, LOC126861783, LOC126861784, LOC126861785, LOC126861786, LOC126861787, LOC126861788, LOC126861789, LOC126861790, LOC126861791, LOC126861792, LOC126861793, LOC126861794, LOC126861795, LOC126861796, LOC126861797, LOC126861798, LOC126861799, LOC126861800, LOC126861801, LOC126861802, LOC126861803, LOC126861804, LOC126861805, LOC126861806, LOC126861807, LOC126861808, LOC126861809, LOC126861810, LOC126861811, LOC126861812, LOC127898562, LOC129390601, LOC129390602, LOC129390603, LOC129390604, LOC129390605, LOC129390606, LOC129390607, LOC130009742, LOC130009743, LOC130009744, LOC130009745, LOC130009746, LOC130009747, LOC130009748, LOC130009749, LOC130009750, LOC130009751, LOC130009752, LOC130009753, LOC130009754, LOC130009755, LOC130009756, LOC130009757, LOC130009758, LOC130009759, LOC130009760, LOC130009761, LOC130009762, LOC130009763, LOC130009764, LOC130009765, LOC130009766, LOC130009767, LOC130009768, LOC130009769, LOC130009770, LOC130009771, LOC130009772, LOC130009773, LOC130009774, LOC130009775, LOC130009776, LOC130009777, LOC130009778, LOC130009779, LOC130009780, LOC130009781, LOC130009782, LOC130009783, LOC130009784, LOC130009785, LOC130009786, LOC130009787, LOC130009788, LOC130009789, LOC130009790, LOC130009791, LOC130009792, LOC130009793, LOC130009794, LOC130009795, LOC130009796, LOC130009797, LOC130009798, LOC130009799, LOC130009800, LOC130009801, LOC130009802, LOC130009803, LOC130009804, LOC130009805, LOC130009806, LOC130009807, LOC130009808, LOC130009809, LOC130009810, LOC130009811, LOC130009812, LOC130009813, LOC130009814, LOC130009815, LOC130009816, LOC130009817, LOC130009818, LOC130009819, LOC130009820, LOC130009821, LOC130009822, LOC130009823, LOC130009824, LOC130009825, LOC130009826, LOC130009827, LOC130009828, LOC130009829, LOC130009830, LOC130009831, LOC130009832, LOC130009833, LOC130009834, LOC130009835, LOC130009836, LOC130009837, LOC130009838, LOC130009839, LOC130009840, LOC130009841, LOC130009842, LOC130009843, LOC130009844, LOC130009845, LOC130009846, LOC130009847, LOC130009848, LOC130009849, LOC130009850, LOC130009851, LOC130009852, LOC130009853, LOC130009854, LOC130009855, LOC130009856, LOC130009857, LOC130009858, LOC130009859, LOC130009860, LOC130009861, LOC130009862, LOC130009863, LOC130009864, LOC130009865, LOC130009866, LOC130009867, LOC130009868, LOC130009869, LOC130009870, LOC130009871, LOC130009872, LOC130009873, LOC130009874, LOC130009875, LOC130009876, LOC130009877, LOC130009878, LOC130009879, LOC130009880, LOC130009881, LOC130009882, LOC130009883, LOC130009884, LOC130009885, LOC130009886, LOC130009887, LOC130009888, LOC130009889, LOC130009890, LOC130009891, LOC130009892, LOC130009893, LOC130009894, LOC130009895, LOC130009896, LOC130009897, LOC130009898, LOC130009899, LOC130009900, LOC130009901, LOC130009902, LOC130009903, LOC130009904, LOC130009905, LOC130009906, LOC130009907, LOC130009908, LOC130009909, LOC130009910, LOC130009911, LOC130009912, LOC130009913, LOC130009914, LOC130009915, LOC130009916, LOC130009917, LOC130009918, LOC130009919, LOC130009920, LOC130009921, LOC130009922, LOC130009923, LOC130009924, LOC130009925, LOC130009926, LOC130009927, LOC130009928, LOC130009929, LOC130009930, LOC130009931, LOC130009932, LOC130009933, LOC130009934, LOC130009935, LOC130009936, LOC130009937, LOC130009938, LOC130009939, LOC130009940, LOC130009941, LOC130009942, LOC130009943, LOC130009944, LOC130009945, LOC130009946, LOC130009947, LOC130009948, LOC132090195, LOC132090196, LOC132090197, LOC132090198, LOC132090199, LOC132090200, LOC132090201, LOC132090202, LOC132090203, LOC132090204, LOC132090205, LOC132090864, LOC132090865, LOC647264, LOC780529, LPAR6, MED4, MIR1297, MIR15A, MIR16-1, MIR3169, MIR3613, MIR3665, MIR4703, MIR4704, MIR5007, MIR548X2, MIR5693, MIR759, MLNR, MYCBP2, MZT1, NDFIP2, NEK3, NEK5, NUDT15, OBI1, OLFM4, PCDH17, PCDH20, PCDH8, PCDH9, PHF11, PIBF1, POU4F1, PRR20A, PRR20B, PRR20C, PRR20D, PRR20E, RB1, RB1-DT, RBM26, RCBTB1, RCBTB2, RNASEH2B, SCEL, SERPINE3, SETDB2, SETDB2-PHF11, SLAIN1, SLITRK1, SLITRK6, SNORA107, SPRY2, SPRYD7, SUCLA2, SUGT1, SUGT1-DT, TBC1D4, TDRD3, THSD1, TMEM272, TRIM13, UCHL3, UTP14C, VPS36, WDFY2 1 0 0 0 0 1
ACSF3, ANKRD11, APRT, CBFA2T3, CDH15, CDT1, CTU2, CYBA, GALNS, IL17C, LOC101927817, MVD, PABPN1L, PIEZO1, RNF166, SLC22A31, SNAI3, SPG7, TRAPPC2L, ZC3H18, ZFPM1, ZNF469, ZNF778 1 0 0 0 0 1
ACSF3, ANKRD11, CDH15, SLC22A31, ZNF778 0 0 1 0 0 1
ADAMTS1 0 1 0 0 0 1
ADAMTS5 0 0 1 0 0 1
ADAMTS6 0 1 0 0 0 1
ADAMTSL3, AP3B2, BNC1, BTBD1, C15orf40, CPEB1, FSD2, HOMER2, RAMAC, SCARNA15, SH3GL3, TM6SF1, WHAMM 0 1 0 0 0 1
ADARB2, WDR37 0 0 0 1 0 1
AFF2 0 1 0 0 0 1
AFP 0 1 0 0 0 1
AHCTF1, FLJ39095, LINC02897, LOC112577567, LOC112577568, LOC122152358, LOC126806087, LOC129932941, LOC129932942, LOC129932943, LOC129932944, LOC129932945, LOC129932946, LOC129932947, MIR3916, ZNF124, ZNF669, ZNF670, ZNF670-ZNF695, ZNF695 0 0 0 1 0 1
AMELX, ARHGAP6, MSL3 0 0 1 0 0 1
AMFR, LOC130059041 0 0 1 0 0 1
ANKRD11, LOC130059812, LOC130059813, LOC130059814 1 0 0 0 0 1
ANKRD24, APBA3, ATCAY, CHAF1A, CREB3L3, DAPK3, EBI3, EEF2, FSD1, LRG1, MAP2K2, MATK, MPND, MRPL54, NMRK2, PIAS4, PLIN4, PLIN5, RAX2, SEMA6B, SH3GL1, SHD, SIRT6, STAP2, TJP3, TMIGD2, UBXN6, YJU2, ZBTB7A, ZFR2 0 0 1 0 0 1
AOPEP, FANCC 0 0 1 0 0 1
APC 0 0 1 0 0 1
ARRDC1, CACNA1B, EHMT1, LOC100133077, LOC101928786, LOC108254695, LOC108281115, LOC121366036, LOC124375254, LOC126860799, LOC126860800, LOC126860801, LOC130003132, LOC130003133, LOC130003134, LOC130003135, LOC130003136, LOC130003137, LOC130003138, LOC130003139, LOC130003140, LOC130003141, LOC130003142, LOC130003143, LOC130003144, LOC130003145, LOC130003146, LOC130003147, LOC130003148, LOC130003149, LOC130003150, LOC651337, MIR602 1 0 0 0 0 1
ARSA, SHANK3 0 0 0 1 0 1
ASMTL, P2RY8 0 0 0 1 0 1
ATG2A 0 0 1 0 0 1
ATG7 0 0 1 0 0 1
ATG9B 0 1 0 0 0 1
ATP10B, GABRB2, LINC02159, LOC126807574, LOC126807575, LOC129995193, LOC129995194, LOC129995195 0 0 1 0 0 1
AVEN, LOC126862094, LOC126862095, RYR3 0 0 1 0 0 1
BCAP29, DUS4L-BCAP29, LOC129999124 0 0 0 1 0 1
BMAL1 0 0 1 0 0 1
BMP15 1 0 0 0 0 1
BMP4, LINC02331 0 0 1 0 0 1
BMP6 0 1 0 0 0 1
BNC1 0 1 0 0 0 1
BRD3 0 0 1 0 0 1
BRDT 1 0 0 0 0 1
BRWD1 0 1 0 0 0 1
C7orf31, CBX3, CCDC126, CHN2, CPVL, CREB5, CYCS, EVX1, FAM221A, FKBP14, GARS1, GGCT, GPNMB, GSDME, HIBADH, HNRNPA2B1, HOTAIRM1, HOTTIP, HOXA1, HOXA10, HOXA11, HOXA13, HOXA2, HOXA3, HOXA4, HOXA5, HOXA6, HOXA7, HOXA9, IGF2BP3, JAZF1, LINC02860, MALSU1, MIR148A, MIR196B, MTURN, NFE2L3, NOD1, NPVF, NPY, NUP42, OSBPL3, PALS2, PLEKHA8, PRR15, SCRN1, SKAP2, SNX10, STK31, TAX1BP1, TRA2A, TRIL, WIPF3, ZNRF2 1 0 0 0 0 1
CACNG7, CACNG8, DPRX, LOC121627888, LOC126862930, LOC129391137, LOC130065082, LOC130065083, MIR1283-1, MIR1283-2, MIR1323, MIR371A, MIR371B, MIR372, MIR373, MIR498, MIR512-1, MIR512-2, MIR515-1, MIR515-2, MIR516A1, MIR516A2, MIR516B1, MIR516B2, MIR517A, MIR517B, MIR517C, MIR518A1, MIR518A2, MIR518B, MIR518C, MIR518D, MIR518E, MIR518F, MIR519A1, MIR519A2, MIR519B, MIR519C, MIR519D, MIR519E, MIR520A, MIR520B, MIR520C, MIR520D, MIR520E, MIR520F, MIR520G, MIR520H, MIR521-1, MIR521-2, MIR522, MIR523, MIR524, MIR525, MIR526A1, MIR526A2, MIR526B, MIR527, MYADM, NLRP12, PRKCG, ZNF331 0 0 1 0 0 1
CAPZA1, LINC01356, LINC01357, LOC122094900, LOC129388586, LOC129931216, LOC129931217, LRIG2, MIR11399, MOV10, PPM1J, RHOC, SLC16A1, TAFA3 0 0 1 0 0 1
CCDC116, MAPK1, MIR130B, PPIL2, PPM1F, PRAME, RIMBP3C, SDF2L1, TMEM191C, TOP3B, UBE2L3, VPREB1, YDJC, YPEL1, ZNF280A, ZNF280B 1 0 0 0 0 1
CCDC148 0 0 0 1 0 1
CCSER1, LOC121725178 0 0 0 1 0 1
CD1E 0 0 0 1 0 1
CDK13, LOC129998294 0 0 0 1 0 1
CHEK2 1 0 0 0 0 1
COBL 0 0 1 0 0 1
CPEB1 0 0 1 0 0 1
CYP17A1 0 1 0 0 0 1
CYP19A1, MIR4713HG, PIRC66 0 1 0 0 0 1
DDX1, MYCN, MYCNOS, NBAS 0 0 1 0 0 1
DENND6A, DENND6A-DT, LOC126806691, LOC129389081, LOC129936932, SLMAP 0 0 1 0 0 1
DIAPH2, LOC130068483 0 1 0 0 0 1
DLC1 0 0 0 1 0 1
DMRT3 0 1 0 0 0 1
DPPA2 0 1 0 0 0 1
DUSP19, LOC129935223, NUP35 0 0 0 1 0 1
DUSP22, LOC126859546, LOC129389424, LOC129995536, LOC129995537, LOC129995538, LOC129995539, LOC129995540, LOC129995541, LOC129995542, LOC129995543, LOC129995544, LOC129995545, LOC129995546, LOC129995547, LOC129995548, LOC129995549, LOC129995550, LOC129995551, LOC129995552, LOC129995553, LOC129995554, LOC129995555, LOC129995556, LOC129995557, LOC129995558, LOC129995559, LOC129995560, LOC129995561 0 0 0 0 1 1
DUSP22, LOC126859546, LOC129389424, LOC129995541, LOC129995542, LOC129995543, LOC129995544, LOC129995545, LOC129995546, LOC129995547, LOC129995548, LOC129995549, LOC129995550, LOC129995551, LOC129995552, LOC129995553, LOC129995554, LOC129995555, LOC129995556, LOC129995557, LOC129995558, LOC129995559, LOC129995560, LOC129995561, LOC129995562 0 0 0 0 1 1
DUSP22, LOC129995536, LOC129995537, LOC129995538 0 0 0 0 1 1
DUSP22, LOC129995536, LOC129995537, LOC129995538, LOC129995539, LOC129995540 0 0 0 0 1 1
ERI1, LOC113788294, LOC129999834 0 0 0 1 0 1
FAM120B, LOC110121051, LOC123881371, LOC126859914, LOC126859915, LOC129997715, LOC129997716, LOC132089379, MIR4644, PSMB1, TBP 0 0 1 0 0 1
FAM199X, IL1RAPL2, LOC130068517, SLC25A53 0 0 1 0 0 1
FANCA 0 1 0 0 0 1
FHIT, NPCDR1 0 0 0 1 0 1
FYN 0 0 1 0 0 1
FZD6, LOC105369147, LOC124174311, SNORD173 0 0 1 0 0 1
GADL1, LOC126806641, LOC129389044, LOC129936400, LOC129936401, LOC129936402, MIR466 0 0 0 1 0 1
GALT 1 0 0 0 0 1
GLI1 0 0 1 0 0 1
GPBP1L1, IPP, LOC122056859, LOC122056860, LOC122056861, LOC129388509, LOC129930460, LOC129930461, LOC129930462, LOC129930463, MAST2, TMEM69 0 0 0 1 0 1
GPR37L1, LOC111429603, LOC115804239, LOC115804240 0 0 0 1 0 1
GTF2H2, GTF2H2C, LINC02197, LOC111089946, LOC113002590, NAIP, OCLN, SERF1A, SERF1B, SMN, SMN1, SMN2, SNORD13B-1, SNORD13B-2 0 0 0 0 1 1
GTF2H2, GTF2H2C, LINC02197, LOC111089946, LOC113002590, NAIP, OCLN, SERF1A, SERF1B, SMN, SMN1, SMN2, SNORD13B-2 0 0 0 0 1 1
GTF2H2, LINC02197, LOC111089946, NAIP, SNORD13B-2 0 0 0 0 1 1
GTF2H2, LOC111089946, NAIP, SERF1A, SMN, SMN1 0 0 0 0 1 1
GTF2H2, LOC111089946, NAIP, SERF1A, SMN, SMN1, SNORD13B-2 0 0 0 0 1 1
GXYLT1, LOC129390439, LOC130007692, LOC130007693, LOC130007694, YAF2 0 0 0 1 0 1
IGF2R 0 1 0 0 0 1
INSL6, JAK2 1 0 0 0 0 1
KBTBD12, LOC126806805, LOC129937504, LOC129937505, MGLL 0 0 1 0 0 1
KDR 0 1 0 0 0 1
KHDRBS1 0 1 0 0 0 1
LARS2 0 0 1 0 0 1
LDLRAP1, LOC122056798, LOC122056799, LOC122056800, LOC129388471, LOC129388472, LOC129388473, LOC129388474, LOC129388475, LOC129929767, LOC129929768, LOC129929769, LOC129929770, LOC129929771, LOC129929772, LOC129929773, LOC129929774, LOC129929775, LOC129929776, LOC129929777, LOC129929778, LOC129929779, LOC129929780, LOC129929781, MACO1, MAN1C1, RHCE, RHD, RSRP1, SYF2, TMEM50A 0 0 0 1 0 1
LEPR 0 0 1 0 0 1
LINC00879 0 0 0 1 0 1
LINC01470 0 0 1 0 0 1
LINC01524 0 0 1 0 0 1
LINC01743, LOC110121251, LOC120947224, LOC122152356, LOC126806083, LOC128598893, LOC128598894, LOC128635606, LOC128635607, LOC129388803, LOC129932925, LOC129932926, LOC129932927, LOC129932928, LOC129932929, SMYD3 0 0 1 0 0 1
LINC02629, LOC126860913 0 0 1 0 0 1
LINC02714, LOC126861408 0 0 0 1 0 1
LINC03077 0 0 1 0 0 1
LOC101927770, TSHZ2, ZNF217 0 0 1 0 0 1
LOC111556114, PRKAA1 0 0 1 0 0 1
LOC112529899, LOC130060389, RAI1 1 0 0 0 0 1
LOC125371498, LOC130064105, LOC130064106, LOC130064107, RPSA2, ZNF675, ZNF681 0 0 0 1 0 1
LOC126860645, LOC126860646, LOC130001903, PCSK5 0 0 1 0 0 1
LOC126861323 0 0 0 1 0 1
LOC126862606, LOC130061313, LOC130061314, LOC130061315, LOC130061316, LOC130061317, MIR301A, MIR454, PRR11, SKA2, TRIM37 0 1 0 0 0 1
LOC129388707, LOC129388708, LOC129388709, LOC129388710, LOC129388711, LOC129932151 0 0 0 1 0 1
LOC129995703, LOC129995704, LOC129995705, LOC129995706, LOC129995707, LOC129995708, LOC129995709, RREB1 0 0 1 0 0 1
LOC130000041, LOC130000042, NKX2-6, NKX3-1 0 0 0 1 0 1
LOC130063962, LOC130063963, LOC130063964, SLC5A5 0 0 1 0 0 1
LOC130068044, PTCHD1 0 0 0 1 0 1
MECOM 0 1 0 0 0 1
MIR4500HG 0 0 0 1 0 1
MLH3 0 1 0 0 0 1
MOV10 0 0 1 0 0 1
MYC 0 0 1 0 0 1
NCAM2 0 0 0 1 0 1
NCKAP5 0 0 0 1 0 1
NOBOX 0 1 0 0 0 1
NOTCH2 0 1 0 0 0 1
NR5A2 0 1 0 0 0 1
NTRK1 0 1 0 0 0 1
OR51B5, OR51I1, OR51I2 0 0 0 1 0 1
PARD3 0 0 1 0 0 1
PMM2 1 0 0 0 0 1
PNPLA4, PUDP, STS, VCX 0 0 1 0 0 1
POLG, POLGARF 0 1 0 0 0 1
POR 0 1 0 0 0 1
PRIM1 0 0 1 0 0 1
PRLR 0 1 0 0 0 1
RAD51C 0 1 0 0 0 1
RAD54L 1 0 0 0 0 1
RAI1 0 0 1 0 0 1
REC8 0 0 1 0 0 1
RICTOR 0 1 0 0 0 1
SETD5, THUMPD3 1 0 0 0 0 1
SH2B1 0 1 0 0 0 1
SIRT6 0 1 0 0 0 1
STAG3 1 0 0 0 0 1
THBS1 0 1 0 0 0 1
VLDLR 0 0 1 0 0 1
WHAMM 0 0 1 0 0 1
WT1 0 1 0 0 0 1
XPNPEP2 0 0 1 0 0 1
XPO1 0 0 1 0 0 1
ZNF462 0 1 0 0 0 1

Condition and significance breakdown #

Total conditions: 13
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Primary amenorrhea 1 3 33 33 13 82
Premature ovarian failure 7 37 20 0 0 64
KBG syndrome 21 1 2 3 2 29
9q34 microduplication syndrome 1 0 1 1 0 3
Silver Russell Syndrome-related disorder 1 0 2 0 0 3
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency 2 0 0 0 0 2
Smith-Magenis syndrome 1 0 1 0 0 2
1q24q25 microdeletion syndrome 1 0 0 0 0 1
3p- syndrome 1 0 0 0 0 1
Chromosome 13q14 deletion syndrome 1 0 0 0 0 1
Chromosome 17p13.3 duplication syndrome 1 0 0 0 0 1
Chromosome 22q11.2 deletion syndrome, distal 1 0 0 0 0 1
Mulibrey nanism syndrome 0 1 0 0 0 1

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