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VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr12:282465-133773393
GRCh38:
Chr12:121271-133196807
LOC126861603, LOC126861604, LOC126861605, LOC126861606, LOC126861607, LOC126861608, LOC126861609, LOC126861610, LOC126861611, LOC126861612, LOC126861613, LOC126861614, LOC126861615, LOC126861616, LOC126861617, LOC126861618, LOC126861619, LOC126861620, LOC126861621, LOC126861622, LOC126861623, LOC126861624, LOC126861625, LOC126861626, LOC126861627, LOC126861628, LOC126861629, LOC126861630, LOC126861631, LOC126861632, LOC126861633, LOC126861634, LOC126861635, LOC126861636, LOC126861637, LOC126861638, LOC126861639, LOC126861640, LOC126861641, LOC126861642, LOC126861643, LOC126861644, LOC126861645, LOC126861646, LOC126861647, LOC126861648, LOC126861649, LOC126861650, LOC126861651, LOC126861652, LOC126861653, LOC126861654, LOC126861655, LOC126861656, LOC126861657, LOC126861658, LOC126861659, LOC126861660, LOC126861661, LOC126861662, LOC126861663, LOC126861664, LOC126861665, LOC126861666, LOC126861667, LOC126861668, LOC126861669, LOC126861670, LOC126861671, LOC126861672, LOC126861673, LOC126861674, LOC126861675, LOC126861676, LOC126861677, LOC126861678, LOC126861679, LOC126861680, LOC126861681, LOC126861682, LOC126861683, LOC126861684, LOC126861685, LOC126861686, LOC126861687, LOC126861688, LOC126861689, LOC126861690, LOC126861691, LOC126861692, LOC126861693, LOC126861694, LOC126861695, LOC126861696, LOC126861697, LOC126861698, LOC126861699, LOC126861700, LOC126861701, LOC126861702, LOC128071547, LOC128125814, LOC128125816, LOC128706664, LOC128732306, LOC128772374, LOC128772375, LOC128772376, LOC128772377, LOC128772378, LOC128772379, LOC128772380, LOC128772381, LOC128772382, LOC128772383, LOC128772384, LOC128772385, LOC128772386, LOC128772387, LOC128781585, LOC283387, LOC414300, LOC440084, LOC574538, LOC642846, LOC643339, LOC645177, LOC645485, LOC728715, LOC729291, LOH12CR2, LPAR5, LPCAT3, LRCOL1, LRIG3, LRIG3-DT, LRP1, LRP1-AS, LRP6, LRRC10, LRRC23, LRRC43, LRRIQ1, LRRK2, LRTM2, LTA4H, LTBR, LUM, LYZ, M6PR, MAGOHB, MANSC1, MANSC4, MAP1LC3B2, MAP3K12, MAPKAPK5, MAPKAPK5-AS1, MARCHF9, MARS1, MBD6, MCRS1, MDM1, MDM2, MED13L, MED21, METAP2, METTL1, METTL25, MFAP5, MFSD5, MGAT4C, MGP, MGST1, MIP, MIR10527, MIR1178, MIR1228, MIR1244-3, MIR1244-4, MIR1251, MIR1252, MIR1279, MIR1291, MIR1293, MIR1302-1, MIR135A2, MIR141, MIR148B, MIR1827, MIR196A2, MIR200C, MIR200CHG, MIR26A2, MIR3059, MIR3198-2, MIR331, MIR3612, MIR3649, MIR3652, MIR3657, MIR3685, MIR3908, MIR3913-1, MIR3913-2, MIR3922, MIR3974, MIR4302, MIR4303, MIR4304, MIR4419B, MIR4472-2, MIR4494, MIR4495, MIR4496, MIR4497, MIR4498, MIR4698, MIR4699, MIR4700, MIR4701, MIR492, MIR5188, MIR548C, MIR548Z, MIR5700, MIR6074, MIR6125, MIR613, MIR614, MIR615, MIR616, MIR617, MIR618, MIR619, MIR620, MIR6502, MIR6505, MIR6757, MIR6758, MIR6759, MIR6760, MIR6761, MIR6762, MIR6763, MIR6861, MIR6880, MIR7106, MIR7107, MIR7844, MIR7851, MIR8072, MIR920, MIR9898, MIR9902-1, MIR9902-2, MIRLET7I, MIRLET7IHG, MLEC, MLF2, MLXIP, MMAB, MMP17, MMP19, MON2, MORN3, MPHOSPH9, MRPL42, MRPL51, MRPS35, MSI1, MSRB3, MSRB3-AS1, MTERF2, MTRFR, MUC19, MUC8, MUCL1, MVK, MYBPC1, MYF5, MYF6, MYG1, MYL2, MYL6, MYL6B, MYO1A, MYO1H, MYRFL, NAA25, NAB2, NABP2, NACA, NANOG, NANOGNB, NAP1L1, NAV3, NCAPD2, NCKAP1L, NCKAP5L, NCOR2, NDUFA12, NDUFA4L2, NDUFA9, NECAP1, NEDD1, NELL2, NEMP1, NEUROD4, NFE2, NFYB, NINJ2, NINJ2-AS1, NOC4L, NOP2, NOPCHAP1, NOS1, NPFF, NR1H4, NR2C1, NR4A1, NR4A1AS, NRAV, NRIP2, NT5DC3, NTF3, NTN4, NTS, NUAK1, NUDT4, NUP107, NUP37, NXPH4, OAS1, OAS2, OAS3, OASL, OGFOD2, OLR1, OR10A7, OR10AD1, OR10P1, OR2AP1, OR5BS1P, OR6C1, OR6C2, OR6C3, OR6C4, OR6C6, OR6C65, OR6C68, OR6C70, OR6C74, OR6C75, OR6C76, OR8S1, OR9K2, ORAI1, ORI6, ORMDL2, OS9, OSBPL8, OTOGL, OVCH1, OVCH1-AS1, P2RX2, P2RX4, P2RX7, P3H3, PA2G4, PAH, PAN2, PARP11, PARP11-AS1, PARPBP, PAWR, PCBP2, PCBP2-OT1, PCED1B, PCED1B-AS1, PDE1B, PDE3A, PDE6H, PDZRN4, PEBP1, PEX5, PFDN5, PFKM, PGAM5, PHB2, PHC1, PHETA1, PHLDA1, PIANP, PIK3C2G, PIP4K2C, PITPNM2, PITPNM2-AS1, PIWIL1, PKP2, PLA2G1B, PLBD1, PLBD1-AS1, PLBD2, PLCZ1, PLEKHA5, PLEKHG6, PLEKHG7, PLXNC1, PMCH, PMEL, POC1B, POC1B-AS1, POC1B-GALNT4, POLE, POLR3B, POP5, POU6F1, PPFIA2, PPFIA2-AS1, PPFIBP1, PPHLN1, PPM1H, PPP1CC, PPP1R12A, PPP1R12A-AS1, PPP1R12A-AS2, PPP1R1A, PPTC7, PRANCR, PRB1, PRB2, PRB3, PRB4, PRDM4, PRDM4-AS1, PRH1, PRH1-PRR4, PRH1-TAS2R14, PRH2, PRICKLE1, PRIM1, PRKAB1, PRKAG1, PRMT8, PRPF40B, PRPH, PRR13, PRR4, PSMD9, PTGES3, PTHLH, PTMS, PTPN11, PTPN6, PTPRB, PTPRO, PTPRQ, PTPRR, PUS1, PUS7L, PWP1, PXMP2, PXN, PXN-AS1, PYM1, PYROXD1, PZP, R3HDM2, RAB21, RAB35, RAB35-AS1, RAB3IP, RAB5B, RACGAP1, RAD51AP1, RAD52, RAD9B, RAN, RAP1B, RAPGEF3, RARG, RASAL1, RASSF3, RASSF3-DT, RASSF8, RASSF8-AS1, RASSF9, RBM19, RBMS2, RBP5, RDH16, RDH5, RECQL, REP15, RERG, RERG-AS1, RERGL, RESF1, RFC5, RFLNA, RFX4, RHEBL1, RHNO1, RHOF, RIC8B, RILPL1, RILPL2, RIMBP2, RIMKLB, RITA1, RLIG1, RMST, RND1, RNF10, RNF34, RNF41, RNFT2, RNU4-1, RNU4-2, RNU7-1, RPAP3, RPAP3-DT, RPH3A, RPL41, LOC113939936, LOC113939937, LOC114803470, LOC114803471, LOC114827850, LOC114827856, LOC114827860, LOC114827865, LOC116268425, LOC116268426, LOC116268427, LOC116268428, LOC116268429, LOC116268430, LOC116268431, LOC116268432, LOC116268433, LOC116268434, LOC116268435, LOC116268436, LOC116268437, LOC116268438, LOC116268439, LOC116268440, LOC116268441, LOC116268442, LOC116268443, LOC116268444, LOC116268445, LOC116268446, LOC116268447, LOC116268448, LOC116268449, LOC116268450, LOC116268451, LOC116268452, LOC116268453, LOC117038775, LOC117038776, LOC117038778, LOC117038779, LOC117038780, LOC117038781, LOC117038782, LOC120766155, LOC120807612, LOC121392955, LOC121392956, LOC121403743, LOC121403744, LOC121466689, LOC121466690, LOC121466691, LOC121466692, LOC121466693, LOC121466694, LOC121466695, LOC121466696, LOC121466697, LOC121466698, LOC121466699, LOC121466700, LOC121466701, LOC121466702, LOC121466703, LOC121466704, LOC121466705, LOC121466706, LOC121466707, LOC121466708, LOC121466709, LOC121466710, LOC121466711, LOC121466712, LOC121466713, LOC121466714, LOC121466715, LOC121466716, LOC121466717, LOC121466718, LOC121466719, LOC121466720, LOC121466721, LOC121466722, LOC121466723, LOC121466724, LOC121466725, LOC121466726, LOC121466727, LOC121832825, LOC121832826, LOC121832827, LOC121832828, LOC121832829, LOC121832830, LOC121832831, LOC121832832, LOC121832833, LOC121832834, LOC121832835, LOC121832836, LOC121832837, LOC121832838, LOC121832839, LOC121832840, LOC121832841, LOC121832842, LOC121832843, LOC121838556, LOC121838557, LOC121838558, LOC121838559, LOC121838560, LOC121838561, LOC121838562, LOC121838563, LOC121838564, LOC121838565, LOC121838566, LOC121838567, LOC121838568, LOC121838569, LOC121838570, LOC121838571, LOC122455340, LOC124625876, LOC124625877, LOC124625878, LOC124625879, LOC124625880, LOC124625881, LOC124625882, LOC124625883, LOC124625884, LOC124625885, LOC124625886, LOC124625887, LOC124625889, LOC124625890, LOC124625892, LOC124625893, LOC124625895, LOC124625896, LOC124625897, LOC124625898, LOC124625899, LOC124625900, LOC124625901, LOC124625902, LOC124625903, LOC124625904, LOC124625905, LOC124625906, LOC124625907, LOC124625908, LOC124625909, LOC124625910, LOC124625911, LOC124625912, LOC124625913, LOC124625914, LOC124625915, LOC124625916, LOC124625917, LOC124625918, LOC124625919, LOC124625920, LOC124625921, LOC124629325, LOC124629326, LOC124629327, LOC124629329, LOC124629330, LOC124629331, LOC124629332, LOC124629333, LOC124629334, LOC124629336, LOC124629337, LOC124629338, LOC124629339, LOC124629340, LOC124629342, LOC124629343, LOC124629344, LOC124629345, LOC124629346, LOC124629347, LOC124629348, LOC124629349, LOC124629350, LOC124629351, LOC124629352, LOC124629353, LOC124629354, LOC124629355, LOC124629356, LOC124629357, LOC124629358, LOC124629360, LOC124629361, LOC124629362, LOC124629363, LOC124629364, LOC124629365, LOC124629366, LOC124629367, LOC124629368, LOC124629369, LOC124629370, LOC124629372, LOC124629373, LOC124629374, LOC124629375, LOC124629376, LOC124629377, LOC124629378, LOC124629379, LOC124629386, LOC124629388, LOC124629389, LOC124629390, LOC124629391, LOC124629392, LOC124629393, LOC124629394, LOC124629395, LOC124629399, LOC124629400, LOC124629401, LOC124629403, LOC124629404, LOC124629407, LOC124629408, LOC124629409, LOC124629410, LOC124629411, LOC124629412, LOC124629413, LOC124629414, LOC124629415, LOC124629416, LOC124629417, LOC124629418, LOC124629419, LOC124629420, LOC124629421, LOC124629422, LOC124629423, LOC124629424, LOC124629425, LOC124629426, LOC124646378, LOC124646379, LOC124646380, LOC124646381, LOC124646382, LOC124646383, LOC124646384, LOC124646385, LOC124646387, LOC124646388, LOC124646389, LOC124646390, LOC124646391, LOC124646392, LOC124646393, LOC124646394, LOC124646395, LOC124819387, LOC124819388, LOC124819389, LOC124819390, LOC124819391, LOC124819392, LOC124819393, LOC124819394, LOC124819395, LOC124819396, LOC124819397, LOC124819398, LOC124819399, LOC124819400, LOC124819401, LOC124819402, LOC124819403, LOC124819404, LOC124819405, LOC124819406, LOC124819407, LOC124819408, LOC124819409, LOC124819410, LOC124849250, LOC124849251, LOC124849252, LOC124849254, LOC124849259, LOC124849260, LOC124849261, LOC124849262, LOC124849266, LOC124849267, LOC124849268, LOC124849269, LOC124849270, LOC124849271, LOC124849272, LOC124849273, LOC124849274, LOC124849275, LOC124849277, LOC124849278, LOC124849279, LOC124849280, LOC124849281, LOC124849282, LOC124849283, LOC124849284, LOC124849286, LOC124849287, LOC124849288, LOC124849289, LOC124849290, LOC124849291, LOC126861410, LOC126861411, LOC126861412, LOC126861413, LOC126861414, LOC126861415, LOC126861416, LOC126861417, LOC126861418, LOC126861419, LOC126861420, LOC126861421, LOC126861422, LOC126861423, LOC126861424, LOC126861425, LOC126861426, LOC126861427, LOC126861428, LOC126861429, LOC126861430, LOC126861431, LOC126861432, LOC126861433, LOC126861434, LOC126861435, LOC126861436, LOC126861437, LOC126861438, LOC126861439, LOC126861440, LOC126861441, LOC126861442, LOC126861443, LOC126861444, LOC126861445, LOC126861446, LOC126861447, LOC126861448, LOC126861449, LOC126861450, LOC126861451, LOC126861452, LOC126861453, LOC126861454, LOC126861455, LOC126861456, LOC126861457, LOC126861458, LOC126861459, LOC126861460, LOC126861461, LOC126861462, LOC126861463, LOC126861464, LOC126861465, LOC126861466, LOC126861467, LOC126861468, LOC126861469, LOC126861470, LOC126861471, LOC126861472, LOC126861473, LOC126861474, LOC126861475, LOC126861476, LOC126861477, LOC126861478, LOC126861479, LOC126861480, LOC126861481, LOC126861482, LOC126861483, LOC126861484, LOC126861485, LOC126861486, LOC126861487, LOC126861488, LOC126861489, LOC126861490, LOC126861491, LOC126861492, LOC126861493, LOC126861494, LOC126861495, LOC126861496, LOC126861497, LOC126861498, LOC126861499, LOC126861500, LOC126861501, LOC126861502, LOC126861503, LOC126861504, LOC126861505, LOC126861506, LOC126861507, LOC126861508, LOC126861509, LOC126861510, LOC126861511, LOC126861512, LOC126861513, LOC126861514, LOC126861515, LOC126861516, LOC126861517, LOC126861518, LOC126861519, LOC126861520, LOC126861521, LOC126861522, LOC126861523, LOC126861524, LOC126861525, LOC126861526, LOC126861527, LOC126861528, LOC126861529, LOC126861530, LOC126861531, LOC126861532, LOC126861533, LOC126861534, LOC126861535, LOC126861536, LOC126861537, LOC126861538, LOC126861539, LOC126861540, LOC126861541, LOC126861542, LOC126861543, LOC126861544, LOC126861545, LOC126861546, LOC126861547, LOC126861548, LOC126861549, LOC126861550, LOC126861551, LOC126861552, LOC126861553, LOC126861554, LOC126861555, LOC126861556, LOC126861557, LOC126861558, LOC126861559, LOC126861560, LOC126861561, LOC126861562, LOC126861563, LOC126861564, LOC126861565, LOC126861566, LOC126861567, LOC126861568, LOC126861569, LOC126861570, LOC126861571, LOC126861572, LOC126861573, LOC126861574, LOC126861575, LOC126861576, LOC126861577, LOC126861578, LOC126861579, LOC126861580, LOC126861581, LOC126861582, LOC126861583, LOC126861584, LOC126861585, LOC126861586, LOC126861587, LOC126861588, LOC126861589, LOC126861590, LOC126861591, LOC126861592, LOC126861593, LOC126861594, LOC126861595, LOC126861596, LOC126861597, LOC126861598, LOC126861599, LOC126861600, LOC126861601, LOC126861602, FAR2, FBRSL1, FBXL14, FBXO21, FBXW8, FGD4, FGD6, FGF23, FGF6, FGFR1OP2, FICD, FIGNL2, FIGNL2-DT, FKBP11, FKBP4, FLJ12825, FLJ13224, FMNL3, FOXJ2, FOXM1, FOXN4, FRA12A, FRS2, FZD10, FZD10-AS1, GABARAPL1, GABARAPL1-AS1, GALNT4, GALNT6, GALNT8, GALNT9, GALNT9-AS1, GAPDH, GARIN6, GAS2L3, GATC, GAU1, GCN1, GDF11, GDF3, GIHCG, GIT2, GLI1, GLIPR1, GLIPR1-AS1, GLIPR1L1, GLIPR1L2, GLS2, GLT1D1, GLT8D2, GLTP, GNB3, GNPTAB, GNS, GOLGA3, GOLT1B, GPD1, GPN3, GPR162, GPR182, GPR19, GPR84, GPR84-AS1, GPRC5A, GPRC5D, GPRC5D-AS1, GRIN2B, GRIP1, GSG1, GTF2H3, GTSF1, GUCY2C, GXYLT1, GYS2, H1-7, H2AJ, H3-5, H4C16, HAL, HCAR1, HCAR2, HCAR3, HCFC2, HDAC7, HEBP1, HECTD4, HELB, HIGD1C, HIP1R, HMGA2, HMGA2-AS1, HNF1A, HNF1A-AS1, HNRNPA1, HOTAIR, HOXC-AS1, HOXC-AS2, HOXC-AS3, HOXC10, HOXC11, HOXC12, HOXC13, HOXC13-AS, HOXC4, HOXC5, HOXC6, HOXC8, HOXC9, HPD, HRK, HSD17B6, HSP90B1, HSPB8, HVCN1, IAPP, IFFO1, IFNG, IFNG-AS1, IFT81, IGF1, IGFBP6, IKBIP, IKZF4, IL22, IL23A, IL26, IL31, ING4, INHBC, INHBE, INTS13, IPO8, IQCD, IQSEC3, IQSEC3-AS1, IRAG2, IRAK3, IRAK4, ISCU, ITFG2, ITFG2-AS1, ITGA5, ITGA7, ITGB7, ITPR2, KANSL2, KCNA1, KCNA5, KCNA6, KCNC2, KCNH3, KCNJ8, KCNMB4, KCTD10, KDM2B, KDM2B-DT, KDM5A, KERA, KICS2, KIF21A, KIF5A, KITLG, KLHL42, KLRB1, KLRC1, KLRC2, KLRC3, KLRC4, KLRC4-KLRK1, KLRD1, KLRF1, KLRF2, KLRG1, KLRK1, KLRK1-AS1, KMT2D, KMT5A, KNTC1, KRAS, KRR1, KRT1, KRT18, KRT2, KRT3, KRT4, KRT5, KRT6A, KRT6B, KRT6C, KRT7, KRT7-AS, KRT71, KRT72, KRT73, KRT73-AS1, KRT74, KRT75, KRT76, KRT77, KRT78, KRT79, KRT8, KRT80, KRT81, KRT82, KRT83, KRT84, KRT85, KRT86, KSR2, LACRT, LAG3, LALBA, LARP4, LDHB, LEMD3, LETMD1, LGR5, LHX5, LHX5-AS1, LIMA1, LIN7A, LINC00173, LINC00477, LINC00485, LINC00507, LINC00508, LINC00592, LINC00612, LINC00615, LINC00934, LINC00937, LINC00938, LINC00939, LINC00940, LINC00941, LINC00942, LINC00943, LINC00944, LINC00987, LINC01089, LINC01234, LINC01252, LINC01257, LINC01404, LINC01405, LINC01465, LINC01479, LINC01486, LINC01489, LINC01490, LINC01498, LINC01559, LINC01619, LINC02156, LINC02231, LINC02258, LINC02347, LINC02350, LINC02356, LINC02359, LINC02361, LINC02366, LINC02367, LINC02368, LINC02369, LINC02370, LINC02372, LINC02373, LINC02375, LINC02376, LINC02378, LINC02381, LINC02384, LINC02385, LINC02386, LINC02387, LINC02388, LINC02389, LINC02392, LINC02393, LINC02394, LINC02395, LINC02396, LINC02397, LINC02398, LINC02399, LINC02400, LINC02401, LINC02402, LINC02403, LINC02404, LINC02405, LINC02406, LINC02408, LINC02409, LINC02410, LINC02411, LINC02412, LINC02413, LINC02414, LINC02415, LINC02416, LINC02417, LINC02418, LINC02419, LINC02420, LINC02421, LINC02422, LINC02423, LINC02424, LINC02425, LINC02426, LINC02439, LINC02440, LINC02441, LINC02442, LINC02443, LINC02444, LINC02445, LINC02446, LINC02448, LINC02449, LINC02450, LINC02451, LINC02453, LINC02454, LINC02455, LINC02456, LINC02458, LINC02459, LINC02460, LINC02461, LINC02464, LINC02468, LINC02470, LINC02471, LINC02555, LINC02598, LINC02617, LINC02820, LINC02823, LINC02824, LINC02825, LINC02826, LINC02827, LINC02874, LINC02882, LINC02909, LINC02955, LINC02972, LINC02985, LLPH, LLPH-DT, LMBR1L, LMNTD1, LMO3, LNCOG, LOC100128253, LOC100128276, LOC100130268, LOC100240734, LOC100240735, LOC100287944, LOC100505978, LOC100506551, LOC100506606, LOC100506869, LOC100507250, LOC100507424, LOC100652999, LOC100996671, LOC101593348, LOC101927583, LOC101928002, LOC101928030, LOC101928416, LOC101928441, LOC101928937, LOC102723544, LOC102724020, LOC102724421, LOC105369187, LOC105369595, LOC105369632, LOC105369728, LOC105369747, LOC105369781, LOC105369879, LOC105369911, LOC105369945, LOC105370024, LOC105370068, LOC106007490, LOC106007491, LOC106096416, LOC106783497, LOC106799839, LOC107105350, LOC107436002, LOC107832852, LOC107832854, LOC107984507, LOC108178986, LOC108178987, LOC108228199, LOC108251798, LOC108254668, LOC108281141, LOC108281176, LOC108281184, LOC108720144, LOC108720145, LOC108942766, LOC109280163, LOC109280164, LOC109280165, LOC109286556, LOC109461484, LOC110120854, LOC110120878, LOC110120899, LOC110120906, LOC110120907, LOC110120908, LOC110120918, LOC110120934, LOC110120948, LOC110120954, LOC110120955, LOC110120956, LOC110120957, LOC110121322, LOC110121323, LOC110121349, LOC110121363, LOC110121374, LOC110121381, LOC110121389, LOC110121401, LOC110121402, LOC110121403, LOC110121408, LOC110121425, LOC110121435, LOC110121456, LOC110121480, LOC110121489, LOC110599568, LOC111258525, LOC111258526, LOC111365152, LOC111365179, LOC111365214, LOC111413045, LOC111429608, LOC111429617, LOC111465008, LOC111501774, LOC111501779, LOC111556143, LOC111556155, LOC111776216, LOC112136100, LOC112136101, LOC112136102, LOC112136103, LOC112136104, LOC112136105, LOC112136106, LOC112136107, LOC112136108, LOC112136111, LOC112136112, LOC112163525, LOC112163526, LOC112163527, LOC112163528, LOC112163529, LOC112163530, LOC112163531, LOC112163532, LOC112163533, LOC112163534, LOC112163535, LOC112163537, LOC112163538, LOC112163539, LOC112163540, LOC112163541, LOC112163542, LOC112163543, LOC112163544, LOC112163545, LOC112163546, LOC112163547, LOC112163548, LOC112163549, LOC112163550, LOC112163551, LOC112163552, LOC112163594, LOC112163595, LOC112163596, LOC112163597, LOC112163598, LOC112163600, LOC112163601, LOC112163602, LOC112163604, LOC112163605, LOC112163606, LOC112163607, LOC112163608, LOC112163609, LOC112163612, LOC112163613, LOC112163615, LOC112163617, LOC112163618, LOC112163619, LOC112163620, LOC112163621, LOC112163622, LOC112163623, LOC112163625, LOC112163626, LOC112163628, LOC112163629, LOC112163630, LOC112163631, LOC112163632, LOC112163633, LOC112163634, LOC112163635, LOC112163636, LOC113939930, LOC113939931, LOC113939932, LOC113939933, LOC113939934, LOC113939935, A2M, A2M-AS1, A2ML1, AAAS, AACS, ABCB9, ABCC9, ABCD2, ABTB3, ACACB, ACAD10, ACADS, ACRBP, ACSM4, ACSS3, ACTR6, ACVR1B, ACVRL1, ADAMTS20, ADCY6, ADCY6-DT, ADGRD1, ADGRD1-AS1, ADIPOR2, AEBP2, AGAP2, AGAP2-AS1, AICDA, AKAP3, ALDH1L2, ALDH2, ALG10, ALG10B, ALKBH2, ALX1, AMDHD1, AMHR2, AMIGO2, AMN1, ANAPC5, ANAPC7, ANKLE2, ANKRD13A, ANKRD33, ANKRD52, ANKS1B, ANO2, ANO4, ANO6, ANP32D, APAF1, APOBEC1, APOF, APOLD1, APPL2, AQP2, AQP5, AQP5-AS1, AQP6, ARF3, ARHGAP9, ARHGDIB, ARHGEF25, ARID2, ARL1, ARL6IP4, ARPC3, ART4, ASB8, ASCL1, ASCL4, ASIC1, ATF1, ATF7, ATF7-NPFF, ATF7IP, ATG101, ATN1, ATP23, ATP2A2, ATP2B1, ATP2B1-AS1, ATP5F1B, ATP5MC2, ATP6V0A2, ATXN2, ATXN2-AS, ATXN7L3B, AVIL, AVPR1A, B3GNT4, B4GALNT1, B4GALNT3, BAZ2A, BBS10, BCAT1, BCDIN3D, BCDIN3D-AS1, BCL2L14, BCL7A, BEST3, BHLHE41, BICD1, BICDL1, BIN2, BLOC1S1, BLOC1S1-RDH5, BLTP3B, BMAL2, BMAL2-AS1, BORCS5, BRAP, BRI3BP, BTG1, BTG1-DT, C12orf4, C12orf40, C12orf42, C12orf42-AS1, C12orf43, C12orf50, C12orf54, C12orf56, C12orf57, C12orf60, C12orf71, C12orf74, C12orf75, C12orf75-AS1, C12orf76, C1QL4, C1R, C1RL, C1RL-AS1, C1S, C2CD5, C3AR1, CABP1, CABP1-DT, CACNA1C, CACNA1C-AS1, CACNA1C-AS2, CACNA1C-AS4, CACNA1C-IT1, CACNA1C-IT2, CACNA1C-IT3, CACNA2D4, CACNB3, CALCOCO1, CAMKK2, CAND1, CAPRIN2, CAPS2, CAPZA3, CASC18, CBX5, CCDC184, CCDC38, CCDC59, CCDC60, CCDC62, CCDC63, CCDC65, CCDC77, CCDC91, CCDC92, CCER1, CCND2, CCND2-AS1, CCNT1, CCT2, CD163, CD163L1, CD27, CD27-AS1, CD4, CD63, CD63-AS1, CD69, CD9, CDCA3, CDK17, CDK2, CDK2AP1, CDK4, CDKN1B, CELA1, CEP290, CEP83, CEP83-DT, CERS5, CFAP251, CFAP54, CFAP73, CHD4, CHFR, CHFR-DT, CHPT1, CHST11, CISTR, CIT, CKAP4, CLEC12A, CLEC12A-AS1, CLEC12B, CLEC1A, CLEC1B, CLEC2A, CLEC2B, CLEC2D, CLEC4A, CLEC4C, CLEC4D, CLEC4E, CLEC6A, CLEC7A, CLEC9A, CLECL1, CLIP1, CLIP1-AS1, CLLU1, CLLU1-AS1, CLSTN3, CMAS, CMKLR1, CNOT2, CNPY2, CNTN1, COL2A1, COPS7A, COPZ1, COQ10A, COQ5, CORO1C, COX14, COX6A1, CPM, CPNE8, CPSF6, CRACR2A, CRADD, CRADD-AS1, CREBL2, CRY1, CS, CSAD, CSRNP2, CSRP2, CTDSP2, CUX2, CYP27B1, DAO, DAZAP2, DBX2, DCD, DCN, DCP1B, DCTN2, DDIT3, DDN, DDN-AS1, DDX11, DDX11-AS1, DDX23, DDX47, DDX51, DDX54, DDX55, DENND5B, DENND5B-AS1, DENR, DEPDC4, DERA, DGKA, DHH, DHX37, DIABLO, DIP2B, DNAH10, DNAI7, DNAJC14, DNAJC22, DNM1L, DPPA3, DPY19L2, DRAM1, DTX1, DTX3, DUSP16, DUSP6, DYNLL1, DYRK2, DYRK4, E2F7, EEA1, EEF1AKMT3, EID3, EIF2B1, EIF2S3B, EIF4B, ELK3, EMG1, EMP1, ENDOU, ENO2, EP400, EPS8, EPYC, ERBB3, ERC1, ERGIC2, ERP27, ERP29, ESPL1, ESYT1, ETFBKMT, ETFRF1, ETNK1, ETNK1-DT, ETV6, FAIM2, FAM186A, FAM186B, FAM216A, FAM222A, FAM222A-AS1, FAM234B, FAM242C, FAM66C, FAM90A1, RPL6, RPLP0, RPS26, RSRC2, RXYLT1, RXYLT1-AS1, SARNP, SART3, SBNO1, SBNO1-AS1, SCAF11, SCARB1, SCARNA10, SCARNA11, SCARNA12, SCAT2, SCN8A, SCNN1A, SCYL2, SDR9C7, SDS, SDSL, SELPLG, SENP1, SETD1B, SFSWAP, SH2B3, SHMT2, SINHCAF, SIRT4, SLC11A2, SLC15A4, SLC15A5, SLC16A7, SLC17A8, SLC25A3, SLC2A13, SLC2A14, SLC2A3, SLC35E3, SLC38A1, SLC38A2, SLC38A2-AS1, SLC38A4, SLC38A4-AS1, SLC39A5, SLC41A2, SLC48A1, SLC4A8, SLC5A8, SLC6A12, SLC6A12-AS1, SLC6A13, SLC6A15, SLC8B1, SLCO1A2, SLCO1B1, SLCO1B3, SLCO1B3-SLCO1B7, SLCO1B7, SLCO1C1, SMAGP, SMARCC2, SMARCD1, SMCO2, SMCO3, SMIM10L1, SMIM41, SMUG1, SNORA105C, SNORA113, SNORA120, SNORA2A, SNORA2B, SNORA2C, SNORA49, SNORA53, SNORA70G, SNORA9B, SNORD133, SNORD59A, SNORD59B, SNRNP35, SNRPF, SNRPF-DT, SOAT2, SOCS2, SOCS2-AS1, SOX5, SOX5-AS1, SP1, SP7, SPATS2, SPIC, SPPL3, SPRING1, SPRYD3, SPRYD4, SPSB2, SPX, SRGAP1, SRRM4, SRSF9, SSH1, SSPN, ST8SIA1, STAB2, STAC3, STAT2, STAT6, STK38L, STRAP, STX2, STYK1, SUDS3, SUOX, SVOP, SYCP3, SYT1, SYT10, TAC3, TAFA2, TAMALIN, TAMALIN-AS1, TAOK3, TAPBPL, TARBP2, TAS2R10, TAS2R13, TAS2R14, TAS2R19, TAS2R20, TAS2R30, TAS2R31, TAS2R42, TAS2R43, TAS2R46, TAS2R50, TAS2R7, TAS2R8, TAS2R9, TBC1D15, TBC1D30, TBK1, TBX3, TBX3-AS1, TBX5, TBX5-AS1, TCHP, TCP11L2, TCTN1, TCTN2, TDG, TEAD4, TESC, TESC-AS1, TESPA1, TEX49, TEX52, TFCP2, THAP2, THCAT155, THRIL, TIGAR, TIMELESS, TM7SF3, TMBIM4, TMBIM6, TMCC3, TMDD1, TMED2, TMED2-DT, TMEM106C, TMEM116, TMEM117, TMEM119, TMEM120B, TMEM132B, TMEM132C, TMEM132D, TMEM132D-AS1, TMEM132D-AS2, TMEM19, TMEM233, TMEM263, TMEM52B, TMPO, TMPO-AS1, TMPRSS12, TMT1A, TMT1B, TMTC1, TMTC2, TMTC3, TNFRSF1A, TNS2, TNS2-AS1, TPCN1, TPH2, TPI1, TRA-TGC3-2, TRA-TGC4-1, TRAFD1, TRD-GTC1-1, TRD-GTC2-10, TRD-GTC2-8, TRD-GTC2-9, TRF-GAA1-4, TRHDE, TRHDE-AS1, TRIAP1, TROAP, TROAP-AS1, TRPV4, TRS-CGA4-1, TRW-CCA4-1, TSFM, TSPAN11, TSPAN19, TSPAN31, TSPAN8, TSPAN9, TUBA1A, TUBA1B, TUBA1B-AS1, TUBA1C, TULP3, TWF1, TXNRD1, UBC, UBE2N, UBE3B, ULK1, UNC119B, UNG, UQCC6, USP15, USP30, USP30-AS1, USP44, USP5, UTP20, VAMP1, VDR, VEZT, VPS29, VPS33A, VPS37B, VSIG10, VWF, WASHC3, WASHC4, WBP11, WIF1, WNK1, WNT1, WNT10B, WNT5B, WSB2, WSCD2, XLOC_009911, XPOT, YAF2, YARS2, YBX3, YEATS4, ZBTB39, ZC3H10, ZCCHC8, ZCRB1, ZDHHC17, ZFC3H1, ZNF10, ZNF140, ZNF26, ZNF268, ZNF384, ZNF385A, ZNF605, ZNF641, ZNF664, ZNF664-RFLNA, ZNF705A, ZNF740, ZNF84, ZNF84-DT, ZNF891
See casesPathogenic
(Sep 21, 2012)
no assertion criteria provided
2.
GRCh37:
Chr12:112741234-113114331
GRCh38:
Chr12:112303430-112676526
HECTD4, PTPN11, RPH3A, RPL6See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
3.
GRCh37:
Chr12:112745336-113160772
GRCh38:
Chr12:112307532-112722967
HECTD4, MIR1302-1, PTPN11, RPH3A, RPL6See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
4.
GRCh37:
Chr12:112854667-112864399
GRCh38:
Chr12:112416863-112426595
PTPN11, RPL6See casesLikely pathogenic
(Nov 30, 2010)
no assertion criteria provided
5.
GRCh37:
Chr12:112856599
GRCh38:
Chr12:112418795
PTPN11, RPL6Metachondromatosis, Noonan syndrome 1, LEOPARD syndrome 1
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
6.
GRCh37:
Chr12:112856599
GRCh38:
Chr12:112418795
RPL6, PTPN11RASopathyBenign
(Jul 26, 2022)
criteria provided, single submitter
7.
GRCh37:
Chr12:112856625
GRCh38:
Chr12:112418821
PTPN11, RPL6Noonan syndrome 1, Metachondromatosis, LEOPARD syndrome 1
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
8.
GRCh37:
Chr12:112856629
GRCh38:
Chr12:112418825
PTPN11, RPL6LEOPARD syndrome 1, Noonan syndrome 1, Metachondromatosis
Benign/Likely benign
(Jan 12, 2018)
criteria provided, single submitter
9.
GRCh37:
Chr12:112856643
GRCh38:
Chr12:112418839
PTPN11not provided, LEOPARD syndrome 1, Metachondromatosis,
Noonan syndrome 1, RASopathy, Noonan syndrome 1,
LEOPARD syndrome 1, Metachondromatosis, Juvenile myelomonocytic leukemia
Benign
(Nov 1, 2022)
criteria provided, multiple submitters, no conflicts
10.
GRCh37:
Chr12:112856671
GRCh38:
Chr12:112418867
PTPN11LEOPARD syndrome 1, Noonan syndrome 1, Metachondromatosis
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
11.
GRCh37:
Chr12:112856737
GRCh38:
Chr12:112418933
PTPN11LEOPARD syndrome 1, Metachondromatosis, Noonan syndrome 1
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
12.
GRCh37:
Chr12:112856740
GRCh38:
Chr12:112418936
PTPN11Metachondromatosis, LEOPARD syndrome 1, Noonan syndrome 1
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
13.
GRCh37:
Chr12:112856755
GRCh38:
Chr12:112418951
PTPN11Metachondromatosis, Noonan syndrome 1, LEOPARD syndrome 1
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
14.
GRCh37:
Chr12:112856765
GRCh38:
Chr12:112418961
PTPN11LEOPARD syndrome 1, Metachondromatosis, Noonan syndrome 1
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
15.
GRCh37:
Chr12:112856777
GRCh38:
Chr12:112418973
PTPN11LEOPARD syndrome 1, Noonan syndrome 1, Metachondromatosis
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
16.
GRCh37:
Chr12:112856839
GRCh38:
Chr12:112419035
PTPN11LEOPARD syndrome 1, Metachondromatosis, Noonan syndrome 1
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
17.
GRCh37:
Chr12:112856845
GRCh38:
Chr12:112419041
PTPN11Metachondromatosis, LEOPARD syndrome 1, Noonan syndrome 1
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
18.
GRCh37:
Chr12:112856871
GRCh38:
Chr12:112419067
PTPN11not specifiedBenign
(Aug 27, 2013)
criteria provided, single submitter
19.
GRCh37:
Chr12:112856883
GRCh38:
Chr12:112419079
PTPN11not providedBenign
(Mar 3, 2015)
criteria provided, single submitter
20.
GRCh37:
Chr12:112856896-112942588
GRCh38:
Chr12:112419092-112504784
PTPN11RASopathyUncertain significance
(Sep 16, 2018)
criteria provided, single submitter
21.
GRCh37:
Chr12:112856903
GRCh38:
Chr12:112419099
PTPN11not specifiedLikely benign
(Jul 5, 2017)
criteria provided, single submitter
22.
GRCh37:
Chr12:112856920
GRCh38:
Chr12:112419116
PTPN11T2IJuvenile myelomonocytic leukemia, Noonan syndrome 1, LEOPARD syndrome 1,
Metachondromatosis, not provided, Noonan syndrome,
RASopathy, Metachondromatosis, Noonan syndrome 1
Pathogenic/Likely pathogenic
(Oct 4, 2022)
criteria provided, multiple submitters, no conflicts
23.
GRCh37:
Chr12:112856921
GRCh38:
Chr12:112419117
PTPN11Cardiovascular phenotype, RASopathyLikely benign
(Aug 9, 2022)
criteria provided, multiple submitters, no conflicts
24.
GRCh37:
Chr12:112856925
GRCh38:
Chr12:112419121
PTPN11RASopathyLikely benign
(Aug 23, 2022)
criteria provided, single submitter
25.
GRCh37:
Chr12:112856925
GRCh38:
Chr12:112419121
PTPN11R4Gnot providedConflicting interpretations of pathogenicity
(Jun 9, 2022)
criteria provided, conflicting interpretations
26.
GRCh37:
Chr12:112856935
GRCh38:
Chr12:112419131
PTPN11RASopathyUncertain significance
(Sep 23, 2022)
criteria provided, single submitter
27.
GRCh37:
Chr12:112856935
GRCh38:
Chr12:112419131
PTPN11RASopathyUncertain significance
(Mar 19, 2022)
criteria provided, single submitter
28.
GRCh37:
Chr12:112856937
GRCh38:
Chr12:112419133
PTPN11LEOPARD syndrome 1, Metachondromatosis, Noonan syndrome 1
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
29.
GRCh37:
Chr12:112856938
GRCh38:
Chr12:112419134
PTPN11RASopathyLikely benign
(Feb 24, 2021)
criteria provided, single submitter
30.
GRCh37:
Chr12:112856940
GRCh38:
Chr12:112419136
PTPN11Metachondromatosis, Noonan syndrome 1, Juvenile myelomonocytic leukemia,
LEOPARD syndrome 1, RASopathy
Likely benign
(Mar 11, 2022)
criteria provided, multiple submitters, no conflicts
31.
GRCh37:
Chr12:112856941
GRCh38:
Chr12:112419137
PTPN11RASopathyLikely benign
(Dec 12, 2021)
criteria provided, single submitter
32.
GRCh37:
Chr12:112856943-112856944
GRCh38:
Chr12:112419139-112419140
PTPN11RASopathyLikely benign
(Jan 6, 2022)
criteria provided, single submitter
33.
GRCh37:
Chr12:112856944
GRCh38:
Chr12:112419140
PTPN11RASopathyLikely benign
(Aug 30, 2022)
criteria provided, single submitter
34.
GRCh37:
Chr12:112856946-112856962
GRCh38:
Chr12:112419142-112419158
PTPN11RASopathyLikely benign
(Apr 9, 2022)
criteria provided, single submitter
35.
GRCh37:
Chr12:112856954
GRCh38:
Chr12:112419150
PTPN11not provided, not specifiedBenign
(Mar 3, 2015)
criteria provided, multiple submitters, no conflicts
36.
GRCh37:
Chr12:112856971
GRCh38:
Chr12:112419167
PTPN11not providedBenign
(Mar 3, 2015)
criteria provided, single submitter
37.
GRCh37:
Chr12:112856983
GRCh38:
Chr12:112419179
PTPN11not providedBenign
(Mar 3, 2015)
criteria provided, single submitter
38.
GRCh37:
Chr12:112884042
GRCh38:
Chr12:112446238
PTPN11Noonan syndromeBenign
(Sep 23, 2010)
no assertion criteria provided
39.
GRCh37:
Chr12:112884060
GRCh38:
Chr12:112446256
PTPN11RASopathyLikely benign
(Oct 16, 2021)
criteria provided, single submitter
40.
GRCh37:
Chr12:112884061
GRCh38:
Chr12:112446257
PTPN11not specified, RASopathyConflicting interpretations of pathogenicity
(Oct 12, 2021)
criteria provided, conflicting interpretations
41.
GRCh37:
Chr12:112884064
GRCh38:
Chr12:112446260
PTPN11RASopathyLikely benign
(Oct 20, 2022)
criteria provided, single submitter
42.
GRCh37:
Chr12:112884072
GRCh38:
Chr12:112446268
PTPN11Noonan syndrome, RASopathyConflicting interpretations of pathogenicity
(Sep 22, 2020)
criteria provided, conflicting interpretations
43.
GRCh37:
Chr12:112884082
GRCh38:
Chr12:112446278
PTPN11W6fsRASopathyPathogenic
(Jun 13, 2022)
criteria provided, single submitter
44.
GRCh37:
Chr12:112884093
GRCh38:
Chr12:112446289
PTPN11N10HMetachondromatosisUncertain significance
(May 20, 2022)
criteria provided, single submitter
45.
GRCh37:
Chr12:112884093
GRCh38:
Chr12:112446289
PTPN11N10DCardiovascular phenotype, not provided, RASopathy
Uncertain significance
(Sep 6, 2022)
criteria provided, multiple submitters, no conflicts
46.
GRCh37:
Chr12:112884094
GRCh38:
Chr12:112446290
PTPN11N10SRASopathyUncertain significance
(Aug 24, 2022)
criteria provided, single submitter
47.
GRCh37:
Chr12:112884099
GRCh38:
Chr12:112446295
PTPN11T12ARASopathyUncertain significance
(Aug 22, 2022)
criteria provided, single submitter
48.
GRCh37:
Chr12:112884101
GRCh38:
Chr12:112446297
PTPN11RASopathy, not specified, not provided
Likely benign
(Jul 26, 2022)
criteria provided, multiple submitters, no conflicts
49.
GRCh37:
Chr12:112884113
GRCh38:
Chr12:112446309
PTPN11RASopathyLikely benign
(Apr 18, 2017)
reviewed by expert panel
FDA Recognized Database
50.
GRCh37:
Chr12:112884118
GRCh38:
Chr12:112446314
PTPN11N18SRASopathyBenign
(Apr 18, 2017)
reviewed by expert panel
FDA Recognized Database
51.
GRCh37:
Chr12:112884129
GRCh38:
Chr12:112446325
PTPN11T22ANoonan syndromeUncertain significanceno assertion criteria provided
52.
GRCh37:
Chr12:112884131
GRCh38:
Chr12:112446327
PTPN11not specified, RASopathyLikely benign
(Oct 7, 2022)
criteria provided, multiple submitters, no conflicts
53.
GRCh37:
Chr12:112884145
GRCh38:
Chr12:112446341
PTPN11G27Dnot providedUncertain significance
(Sep 16, 2020)
criteria provided, single submitter
54.
GRCh37:
Chr12:112884156
GRCh38:
Chr12:112446352
PTPN11A31Snot providedUncertain significance
(Mar 17, 2022)
criteria provided, single submitter
55.
GRCh37:
Chr12:112884157
GRCh38:
Chr12:112446353
PTPN11A31GLEOPARD syndrome 1Likely pathogenic
(Jun 26, 2019)
criteria provided, single submitter
56.
GRCh37:
Chr12:112884164
GRCh38:
Chr12:112446360
PTPN11RASopathyLikely benign
(Oct 19, 2021)
criteria provided, single submitter
57.
GRCh37:
Chr12:112884168
GRCh38:
Chr12:112446364
PTPN11K35ERASopathyUncertain significance
(Sep 7, 2022)
criteria provided, single submitter
58.
GRCh37:
Chr12:112884168
GRCh38:
Chr12:112446364
PTPN11K35Qnot providedUncertain significance
(Feb 21, 2018)
criteria provided, single submitter
59.
GRCh37:
Chr12:112884173
GRCh38:
Chr12:112446369
PTPN11Cardiovascular phenotypeLikely benign
(May 30, 2022)
criteria provided, single submitter
60.
GRCh37:
Chr12:112884179
GRCh38:
Chr12:112446375
PTPN11not providedLikely benign
(Oct 5, 2020)
criteria provided, single submitter
61.
GRCh37:
Chr12:112884180
GRCh38:
Chr12:112446376
PTPN11G39RRASopathy, not providedUncertain significance
(Jun 27, 2022)
criteria provided, multiple submitters, no conflicts
62.
GRCh37:
Chr12:112884182
GRCh38:
Chr12:112446378
PTPN11RASopathyLikely benign
(Apr 28, 2022)
criteria provided, single submitter
63.
GRCh37:
Chr12:112884184
GRCh38:
Chr12:112446380
PTPN11D40Gnot specifiedUncertain significance
(Oct 1, 2012)
criteria provided, single submitter
64.
GRCh37:
Chr12:112884189
GRCh38:
Chr12:112446385
PTPN11T42ANoonan syndrome and Noonan-related syndrome, Cardiovascular phenotype, Metachondromatosis,
LEOPARD syndrome 1, Juvenile myelomonocytic leukemia, Noonan syndrome 1,
not provided, RASopathy, Noonan syndrome,
Noonan syndrome 1
Pathogenic
(Sep 27, 2022)
criteria provided, multiple submitters, no conflicts
65.
GRCh37:
Chr12:112884192
GRCh38:
Chr12:112446388
PTPN11L43VLEOPARD syndrome 1, RASopathy, Noonan syndrome 1,
LEOPARD syndrome 1, Juvenile myelomonocytic leukemia, Metachondromatosis
Uncertain significance
(Jul 19, 2022)
criteria provided, multiple submitters, no conflicts
66.
GRCh37:
Chr12:112884192
GRCh38:
Chr12:112446388
PTPN11L43FNoonan syndrome 1, LEOPARD syndrome 1, Metachondromatosis,
Juvenile myelomonocytic leukemia, not specified, RASopathy,
not provided
Uncertain significance
(Feb 1, 2022)
criteria provided, multiple submitters, no conflicts
67.
GRCh37:
Chr12:112884197
GRCh38:
Chr12:112446393
PTPN11not provided, RASopathy, Cardiovascular phenotype,
not specified
Conflicting interpretations of pathogenicity
(Aug 29, 2022)
criteria provided, conflicting interpretations
68.
GRCh37:
Chr12:112884197
GRCh38:
Chr12:112446393
PTPN11not providedBenign
(Mar 3, 2015)
criteria provided, single submitter
69.
GRCh37:
Chr12:112884198
GRCh38:
Chr12:112446394
PTPN11V45IRASopathyUncertain significance
(Jun 29, 2022)
criteria provided, single submitter
70.
GRCh37:
Chr12:112884237
GRCh38:
Chr12:112446433
PTPN11Noonan syndromeBenign
(Sep 6, 2011)
no assertion criteria provided
71.
GRCh37:
Chr12:112884244
GRCh38:
Chr12:112446440
PTPN11not providedLikely benign
(Mar 19, 2020)
criteria provided, single submitter
72.
GRCh37:
Chr12:112884251
GRCh38:
Chr12:112446447
PTPN11not specifiedLikely benign
(Dec 22, 2015)
criteria provided, single submitter
73.
GRCh37:
Chr12:112887890-112887891
GRCh38:
Chr12:112450086-112450087
PTPN11not providedBenign
(Aug 23, 2019)
criteria provided, single submitter
74.
GRCh37:
Chr12:112887891
GRCh38:
Chr12:112450087
PTPN11not providedLikely benign
(Aug 18, 2019)
criteria provided, single submitter
75.
GRCh37:
Chr12:112887941
GRCh38:
Chr12:112450137
PTPN11not providedBenign
(Jun 14, 2018)
criteria provided, single submitter
76.
GRCh37:
Chr12:112888110
GRCh38:
Chr12:112450306
PTPN11RASopathyUncertain significance
(Aug 28, 2022)
criteria provided, single submitter
77.
GRCh37:
Chr12:112888118
GRCh38:
Chr12:112450314
PTPN11not specifiedLikely benign
(Oct 15, 2015)
criteria provided, single submitter
78.
GRCh37:
Chr12:112888129
GRCh38:
Chr12:112450325
PTPN11G48R, G49Rnot providedUncertain significance
(Dec 3, 2019)
criteria provided, single submitter
79.
GRCh37:
Chr12:112888132
GRCh38:
Chr12:112450328
PTPN11A50T, A49TRASopathyUncertain significance
(May 5, 2022)
criteria provided, single submitter
80.
GRCh37:
Chr12:112888139
GRCh38:
Chr12:112450335
PTPN11T52I, T51INoonan syndromeLikely pathogenic
(Apr 3, 2017)
reviewed by expert panel
FDA Recognized Database
81.
GRCh37:
Chr12:112888140
GRCh38:
Chr12:112450336
PTPN11Cardiovascular phenotypeLikely benign
(May 18, 2021)
criteria provided, single submitter
82.
GRCh37:
Chr12:112888146
GRCh38:
Chr12:112450342
PTPN11Cardiovascular phenotypeLikely benign
(Nov 3, 2017)
criteria provided, single submitter
83.
GRCh37:
Chr12:112888148
GRCh38:
Chr12:112450344
PTPN11K55R, K54RRASopathyUncertain significance
(Jul 31, 2021)
criteria provided, single submitter
84.
GRCh37:
Chr12:112888150
GRCh38:
Chr12:112450346
PTPN11I56V, I55VNoonan syndrome and Noonan-related syndromePathogenic
(May 10, 2019)
reviewed by expert panel
FDA Recognized Database
85.
GRCh37:
Chr12:112888151
GRCh38:
Chr12:112450347
PTPN11I56T, I55TNoonan syndrome and Noonan-related syndromeLikely pathogenic
(May 10, 2019)
reviewed by expert panel
FDA Recognized Database
86.
GRCh37:
Chr12:112888154-112888156
GRCh38:
Chr12:112450350-112450352
PTPN11RASopathyLikely pathogenic
(Jun 13, 2022)
criteria provided, single submitter
87.
GRCh37:
Chr12:112888155
GRCh38:
Chr12:112450351
PTPN11Q56H, Q57HNoonan syndromeLikely pathogenicno assertion criteria provided
88.
GRCh37:
Chr12:112888156-112888157
GRCh38:
Chr12:112450352-112450353
PTPN11Noonan syndromeLikely pathogenicno assertion criteria provided
89.
GRCh37:
Chr12:112888156
GRCh38:
Chr12:112450352
PTPN11N58Y, N57Ynot provided, RASopathyPathogenic/Likely pathogenic
(Feb 24, 2020)
criteria provided, multiple submitters, no conflicts
90.
GRCh37:
Chr12:112888156
GRCh38:
Chr12:112450352
PTPN11N58D, N57DNoonan syndrome and Noonan-related syndrome, Cardiovascular phenotype, LEOPARD syndrome 1,
Noonan syndrome 1, Juvenile myelomonocytic leukemia, Metachondromatosis,
not provided, RASopathy, Noonan syndrome,
Noonan syndrome 1
Pathogenic
(Feb 23, 2023)
criteria provided, multiple submitters, no conflicts
91.
GRCh37:
Chr12:112888156
GRCh38:
Chr12:112450352
PTPN11N58H, N57HRASopathy, not provided, Noonan syndrome,
Noonan syndrome 1
Pathogenic
(Jul 9, 2022)
criteria provided, multiple submitters, no conflicts
92.
GRCh37:
Chr12:112888157
GRCh38:
Chr12:112450353
PTPN11N58S, N57Snot provided, Cardiovascular phenotype, not specified,
RASopathy
Conflicting interpretations of pathogenicity
(Nov 1, 2022)
criteria provided, conflicting interpretations
93.
GRCh37:
Chr12:112888158
GRCh38:
Chr12:112450354
PTPN11N58K, N57KLEOPARD syndrome 1, Juvenile myelomonocytic leukemia, Metachondromatosis,
Noonan syndrome 1, not provided, RASopathy,
Noonan syndrome, Noonan syndrome 1
Pathogenic/Likely pathogenic
(Nov 1, 2022)
criteria provided, multiple submitters, no conflicts
94.
GRCh37:
Chr12:112888158
GRCh38:
Chr12:112450354
PTPN11N58K, N57KNoonan syndrome and Noonan-related syndrome, not provided, RASopathy,
Noonan syndrome, Noonan syndrome 1, Noonan syndrome 3
Pathogenic
(Jun 30, 2022)
criteria provided, multiple submitters, no conflicts
95.
GRCh37:
Chr12:112888159
GRCh38:
Chr12:112450355
PTPN11T59A, T58ARASopathy, not providedConflicting interpretations of pathogenicity
(Oct 6, 2021)
criteria provided, conflicting interpretations
96.
GRCh37:
Chr12:112888161-112888163
GRCh38:
Chr12:112450357-112450359
PTPN11G60del, G59delRASopathyUncertain significance
(Jul 6, 2022)
criteria provided, single submitter
97.
GRCh37:
Chr12:112888162
GRCh38:
Chr12:112450358
PTPN11G60R, G59Rnot provided, RASopathyPathogenic/Likely pathogenic
(Jun 7, 2021)
criteria provided, multiple submitters, no conflicts
98.
GRCh37:
Chr12:112888162
GRCh38:
Chr12:112450358
PTPN11G60C, G59CCardiovascular phenotype, not provided, RASopathy
Pathogenic/Likely pathogenic
(Jun 24, 2022)
criteria provided, multiple submitters, no conflicts
99.
GRCh37:
Chr12:112888162
GRCh38:
Chr12:112450358
PTPN11G60S, G59SLEOPARD syndrome 1, Juvenile myelomonocytic leukemia, Metachondromatosis,
Noonan syndrome 1, not provided, RASopathy,
Noonan syndrome
Pathogenic/Likely pathogenic
(Sep 8, 2022)
criteria provided, multiple submitters, no conflicts
100.
GRCh37:
Chr12:112888163
GRCh38:
Chr12:112450359
PTPN11G59D, G60Dnot providedLikely pathogenic
(Dec 1, 2021)
criteria provided, single submitter
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