| - GRCh37:
- Chr1:149825831-180236332
- GRCh38:
- Chr1:149854269-180267197
| LOC132088675, LOC132088682, LOC132088705, LOC132088709, LOC132088744, LOC132088748, LOC132088749, LOC132090667, LOC132090668, LOC132090669, LOC729867, LORICRIN, LRRC52, LRRC52-AS1, LRRC71, LY9, LYSMD1, MAEL, MCL1, MEF2D, METTL13, METTL18, METTL25B, MEX3A, MGST3, MINDY1, MIR12116, MIR1255B2, MIR1295A, MIR1295B, MIR1843, MIR190B, MIR199A2, MIR214, MIR3119-1, MIR3119-2, MIR3120, MIR3658, MIR4257, MIR4258, MIR4259, MIR4424, MIR4654, MIR488, MIR5187, MIR554, MIR555, MIR556, MIR557, MIR5698, MIR6737, MIR6738, MIR6878, MIR765, MIR8083, MIR9-1, MIR9-1HG, MIR921, MIR92B, MLLT11, MNDA, MPC2, MPZ, MPZL1, MROH9, MRPL24, MRPL9, MRPS14, MRPS21, MSTO1, MTMR11, MTX1, MUC1, MYOC, MYOCOS, NAXE, NCSTN, NDUFS2, NECTIN4, NECTIN4-AS1, NES, NHLH1, NIT1, NME7, NOS1AP, NPHS2, NPR1, NR1I3, NTMT2, NTRK1, NUF2, NUP210L, OAZ3, OLFML2B, OR10J1, OR10J3, OR10J4, OR10J5, OR10K1, OR10K2, OR10R2, OR10T2, OR10X1, OR10Z1, OR6K2, OR6K3, OR6K6, OR6N1, OR6N2, OR6P1, OR6Y1, OTUD7B, PAPPA2, PAQR6, PBX1, PBX1-AS1, PBXIP1, PCP4L1, PEA15, PEAR1, PEX19, PFDN2, PGLYRP3, PGLYRP4, PI4KB, PIGC, PIGM, PIP5K1A, PKLR, PLEKHO1, PMF1, PMF1-BGLAP, PMVK, POGK, POGZ, POU2F1, POU2F1-DT, PPOX, PRCC, PRDX6, PRDX6-AS1, PRPF3, PRR9, PRRC2C, PRRX1, PRUNE1, PSMB4, PSMD4, PYDC5, PYGO2, PYHIN1, QSOX1, RAB13, RAB25, RABGAP1L, RABGAP1L-AS1, RABGAP1L-DT, RALGPS2, RALGPS2-AS1, RASAL2, RASAL2-AS1, RC3H1, RC3H1-DT, RCSD1, RFX5, RFX5-AS1, RGS4, RGS5, RGS5-AS1, RHBG, RIIAD1, RIT1, RORC, RPRD2, RPS27, RPTN, RUSC1, RUSC1-AS1, RXFP4, RXRG, S100A1, S100A10, S100A11, S100A12, S100A13, S100A14, S100A16, S100A2, S100A3, S100A4, S100A5, S100A6, S100A7, S100A7A, S100A8, S100A9, SCAMP3, SCARNA26A, SCARNA26B, SCARNA3, SCARNA4, SCNM1, SCYL3, SDHC, SEC16B, SELE, SELENBP1, SELL, SELP, SEMA4A, SEMA6C, SERPINC1, SETDB1, SF3B4, SFT2D2, SH2D1B, SH2D2A, SHC1, SHE, SLAMF1, SLAMF6, SLAMF7, SLAMF8, SLAMF9, SLC19A2, SLC25A44, SLC27A3, SLC39A1, SLC50A1, SLC9C2, SMCP, SMG5, SMIM42, SNAPIN, SNHG28, SNORA103, SNORA58B, SNORA80E, SNORD13C, SNORD44, SNORD47, SNORD74, SNORD75, SNORD76, SNORD77, SNORD78, SNORD79, SNORD80, SNORD81, SNX27, SOAT1, SPATA46, SPRR1A, SPRR1B, SPRR2A, SPRR2B, SPRR2D, SPRR2E, SPRR2F, SPRR2G, SPRR3, SPRR4, SPRR5, SPTA1, SSR2, STYXL2, SUCO, SV2A, SYT11, TADA1, TAGLN2, TARS2, TBX19, TCHH, TCHHL1, TDRD10, TDRD5, TDRKH, TDRKH-AS1, TEX35, TEX50, THBS3, THBS3-AS1, THEM4, THEM5, TIPRL, TMCO1, TMCO1-AS1, TMEM79, TMOD4, TNFAIP8L2, TNFAIP8L2-SCNM1, TNFSF18, TNFSF4, TNN, TNR, TOMM40L, TOR1AIP1, TOR1AIP2, TOR3A, TPM3, TRD-GTC2-1, TRD-GTC2-2, TRD-GTC2-3, TRD-GTC2-4, TRD-GTC2-5, TRE-CTC1-2, TRE-CTC1-3, TRE-CTC1-4, TRE-CTC1-5, TRE-TTC4-2, TRG-GCC1-1, TRG-GCC1-2, TRG-GCC1-3, TRG-GCC1-4, TRG-GCC2-1, TRG-GCC4-1, TRG-TCC2-2, TRG-TCC2-3, TRG-TCC2-4, TRG-TCC2-5, TRG-TCC2-6, TRG-TCC4-1, TRIM46, TRL-CAA6-1, TRL-CAG1-1, TRL-CAG1-2, TRL-CAG1-3, TRL-CAG1-4, TRL-CAG1-5, TRL-CAG1-6, TRN-GTT1-1, TRN-GTT2-2, TRP-AGG2-1, TRP-CGG1-1, TRR-TCT4-1, TRV-CAC1-1, TRX-CAT1-1, TSACC, TSTD1, TTC24, TUFT1, UAP1, UBAP2L, UBE2Q1, UBE2Q1-AS1, UBQLN4, UCK2, UFC1, UHMK1, USF1, USP21, VAMP4, VANGL2, VHLL, VPS45, VPS72, VSIG8, XCL1, XCL2, YY1AP1, ZBTB37, ZBTB7B, ZNF687, ZNF687-AS1, LOC129931498, LOC129931499, LOC129931500, LOC129931501, LOC129931502, LOC129931503, LOC129931504, LOC129931505, LOC129931506, LOC129931507, LOC129931508, LOC129931509, LOC129931510, LOC129931511, LOC129931512, LOC129931513, LOC129931514, LOC129931515, LOC129931516, LOC129931517, LOC129931518, LOC129931519, LOC129931520, LOC129931521, LOC129931522, LOC129931523, LOC129931524, LOC129931525, LOC129931526, LOC129931527, LOC129931528, LOC129931529, LOC129931530, LOC129931531, LOC129931532, LOC129931533, LOC129931534, LOC129931535, LOC129931536, LOC129931537, LOC129931538, LOC129931539, LOC129931540, LOC129931541, LOC129931542, LOC129931543, LOC129931544, LOC129931545, LOC129931546, LOC129931547, LOC129931548, LOC129931549, LOC129931550, LOC129931551, LOC129931552, LOC129931553, LOC129931554, LOC129931555, LOC129931556, LOC129931557, LOC129931558, LOC129931559, LOC129931560, 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LOC129931703, LOC129931704, LOC129931705, LOC129931706, LOC129931707, LOC129931708, LOC129931709, LOC129931710, LOC129931711, LOC129931712, LOC129931713, LOC129931714, LOC129931715, LOC129931716, LOC129931717, LOC129931718, LOC129931719, LOC129931720, LOC129931721, LOC129931722, LOC129931723, LOC129931724, LOC129931725, LOC129931726, LOC129931727, LOC129931728, LOC129931729, LOC129931730, LOC129931731, LOC129931732, LOC129931733, LOC129931734, LOC129931735, LOC129931736, LOC129931737, LOC129931738, LOC129931739, LOC129931740, LOC129931741, LOC129931742, LOC129931743, LOC129931744, LOC129931745, LOC129931746, LOC129931747, LOC129931748, LOC129931749, LOC129931750, LOC129931751, LOC129931752, LOC129931753, LOC129931754, LOC129931755, LOC129931756, LOC129931757, LOC129931758, LOC129931759, LOC129931760, LOC129931761, LOC129931762, LOC129931763, LOC129931764, LOC129931765, LOC129931766, LOC129931767, LOC129931768, LOC129931769, LOC129931770, LOC129931771, LOC129931772, LOC129931773, 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LOC129931987, LOC129931988, LOC129931989, LOC129931990, LOC129931991, LOC129931992, LOC129931993, LOC129931994, LOC129931995, LOC129931996, LOC129931997, LOC129931998, LOC129931999, LOC129932000, LOC129932001, LOC129932002, LOC129932003, LOC129932004, LOC129932005, LOC129932006, LOC129932007, LOC129932008, LOC132088596, LOC132088597, LOC132088598, LOC132088599, LOC132088600, LOC132088655, LOC132088672, HRNR, HSD17B7, HSPA6, IFI16, IGSF8, IGSF9, IL6R, IL6R-AS1, ILDR2, ILF2, INSRR, INTS3, IQGAP3, ISG20L2, ITLN1, ITLN2, IVL, JTB, JTB-DT, KCNJ10, KCNJ9, KCNN3, KHDC4, KIAA0040, KIFAP3, KIRREL1, KIRREL1-IT1, KLHDC9, KLHL20, KPLCE, KPRP, KRTCAP2, LAMTOR2, LCE1A, LCE1B, LCE1C, LCE1D, LCE1E, LCE1F, LCE2A, LCE2B, LCE2C, LCE2D, LCE3A, LCE3B, LCE3C, LCE3D, LCE3E, LCE4A, LCE5A, LCE6A, LCE7A, LELP1, LENEP, LHX4, LINC00302, LINC00626, LINC00970, LINC01133, LINC01142, LINC01363, LINC01527, LINC01645, LINC01657, LINC01675, LINC01681, LINC01704, LINC01741, LINC02772, LINC02819, LINC02988, LINGO4, LMNA, 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LOC129388609, LOC129388610, LOC129388611, LOC129388612, LOC129388613, LOC129388614, LOC129388615, LOC129388616, LOC129388617, LOC129388618, LOC129388619, LOC129388620, LOC129388621, LOC129388622, LOC129388623, LOC129388624, LOC129388625, LOC129388626, LOC129388627, LOC129388628, LOC129388629, LOC129388630, LOC129388631, LOC129388632, LOC129388633, LOC129388634, LOC129388635, LOC129388636, LOC129388637, LOC129388638, LOC129388639, LOC129388640, LOC129388641, LOC129388642, LOC129388643, LOC129388644, LOC129388645, LOC129388646, LOC129388647, LOC129931373, LOC129931374, LOC129931375, LOC129931376, LOC129931377, LOC129931378, LOC129931379, LOC129931380, LOC129931381, LOC129931382, LOC129931383, LOC129931384, LOC129931385, LOC129931386, LOC129931387, LOC129931388, LOC129931389, LOC129931390, LOC129931391, LOC129931392, LOC129931393, LOC129931394, LOC129931395, LOC129931396, LOC129931397, LOC129931398, LOC129931399, LOC129931400, LOC129931401, LOC129931402, LOC129931403, LOC129931404, LOC129931405, LOC129931406, LOC129931407, LOC129931408, LOC129931409, LOC129931410, LOC129931411, LOC129931412, LOC129931413, LOC129931414, LOC129931415, LOC129931416, LOC129931417, LOC129931418, LOC129931419, LOC129931420, LOC129931421, LOC129931422, LOC129931423, LOC129931424, LOC129931425, LOC129931426, LOC129931427, LOC129931428, LOC129931429, LOC129931430, LOC129931431, LOC129931432, LOC129931433, LOC129931434, LOC129931435, LOC129931436, LOC129931437, LOC129931438, LOC129931439, LOC129931440, LOC129931441, LOC129931442, LOC129931443, LOC129931444, LOC129931445, LOC129931446, LOC129931447, LOC129931448, LOC129931449, LOC129931450, LOC129931451, LOC129931452, LOC129931453, LOC129931454, LOC129931455, LOC129931456, LOC129931457, LOC129931458, LOC129931459, LOC129931460, LOC129931461, LOC129931462, LOC129931463, LOC129931464, LOC129931465, LOC129931466, LOC129931467, LOC129931468, LOC129931469, LOC129931470, LOC129931471, LOC129931472, LOC129931473, LOC129931474, LOC129931475, LOC129931476, LOC129931477, LOC129931478, LOC129931479, LOC129931480, LOC129931481, LOC129931482, LOC129931483, LOC129931484, LOC129931485, LOC129931486, LOC129931487, LOC129931488, LOC129931489, LOC129931490, LOC129931491, LOC129931492, LOC129931493, LOC129931494, LOC129931495, LOC129931496, LOC129931497, ABL2, ACKR1, ADAM15, ADAM15-EFNA4, ADAMTS4, ADAMTSL4, ADAMTSL4-AS1, ADAMTSL4-AS2, ADAR, ADCY10, AIM2, ALDH9A1, ANGPTL1, ANKRD45, ANP32E, ANXA9, APCS, APH1A, APOA2, AQP10, ARHGAP30, ARHGEF11, ARHGEF2, ARHGEF2-AS2, ARNT, ASH1L, ASH1L-AS1, ASTN1, ATF6, ATF6-DT, ATP1A2, ATP1A4, ATP1B1, ATP8B2, AXDND1, B4GALT3, BCAN, BCAN-AS1, BCAN-AS2, BGLAP, BLZF1, BNIPL, BOLA1, BRINP2, C1orf105, C1orf220, C1orf226, C1orf43, C1orf54, C1orf56, C2CD4D, C2CD4D-AS1, CA14, CACYBP, CADM3, CADM3-AS1, CASQ1, CCDC181, CCDC190, CCT3, CD1A, CD1B, CD1C, CD1D, CD1E, CD244, CD247, CD48, CD5L, CD84, CDC42SE1, CELF3, CENPL, CEP350, CERS2, CFAP126, CFAP141, CFAP45, CGN, CHRNB2, CHTOP, CIART, CKS1B, CLEC20A, CLK2, COP1, COP1-DT, COPA, CRABP2, CRCT1, CREB3L4, CREG1, CRNN, CRP, CRTC2, CRYZL2P-SEC16B, CTSK, CTSS, CTXND2, DAP3, DARS2, DCAF6, DCAF8, DCAF8-DT, DCST1, DCST1-AS1, DCST2, DDR2, DEDD, DENND4B, DNM3, DNM3-IT1, DNM3OS, DPM3, DPT, DUSP12, DUSP23, ECM1, EFNA1, EFNA3, EFNA4, EFNA4-EFNA3, ENSA, ENTREP3, ETV3, ETV3L, F11R, F5, FALEC, FAM163A, FAM20B, FAM78B, FAM78B-AS1, FASLG, FCER1A, FCER1G, FCGR2A, FCGR2B, FCGR2C, FCGR3A, FCGR3B, FCRL1, FCRL2, FCRL3, FCRL4, FCRL5, FCRL6, FCRLA, FCRLB, FDPS, FIRRM, FLAD1, FLG, FLG-AS1, FLG2, FMO1, FMO2, FMO3, FMO4, GABPB2, GAS5, GAS5-AS1, GATAD2B, GBA1, GLMP, GOLPH3L, GON4L, GORAB, GORAB-AS1, GPA33, GPATCH4, GPR161, GPR52, H2AC20, H2AC21, H2BC21, H4C15, HAPLN2, HAX1, HCN3, HDGF, HORMAD1 | | See cases | Pathogenic (Jul 16, 2013) | no assertion criteria provided |
| - GRCh37:
- Chr1:154538977-157593874
- GRCh38:
- Chr1:154566501-157624084
| ADAM15, ADAM15-EFNA4, ADAR, ARHGEF11, ARHGEF2, ARHGEF2-AS2, ASH1L, ASH1L-AS1, BCAN, BCAN-AS1, BCAN-AS2, BGLAP, CCT3, CHRNB2, CKS1B, CLK2, CRABP2, DAP3, DCST1, DCST1-AS1, DCST2, DPM3, EFNA1, EFNA3, EFNA4, EFNA4-EFNA3, ENTREP3, ETV3, ETV3L, FCRL4, FCRL5, FDPS, FLAD1, GBA1, GLMP, GON4L, GPATCH4, HAPLN2, HCN3, HDGF, INSRR, IQGAP3, ISG20L2, KCNN3, KHDC4, KRTCAP2, LAMTOR2, LENEP, LINC02772, LMNA, LOC101928120, LOC101928177, LOC106627981, LOC106627982, LOC110013312, LOC110121221, LOC110121262, LOC111828496, LOC112577495, LOC115801448, LOC115801449, LOC120893161, LOC120893162, LOC120893163, LOC121725059, LOC122128435, LOC122128436, LOC122128437, LOC122128438, LOC122128439, LOC122128440, LOC122128441, LOC122128442, LOC122128443, LOC122128444, LOC122128445, LOC122128446, LOC122128447, LOC122128448, LOC122128449, LOC122128450, LOC126805874, LOC126805875, LOC126805876, LOC126805877, LOC126805878, LOC126805879, LOC126805880, LOC126805881, LOC126805882, LOC128772231, LOC129388611, LOC129388612, LOC129388613, LOC129931511, LOC129931512, LOC129931513, LOC129931514, LOC129931515, LOC129931516, LOC129931517, LOC129931518, LOC129931519, LOC129931520, LOC129931521, LOC129931522, LOC129931523, LOC129931524, LOC129931525, LOC129931526, LOC129931527, LOC129931528, LOC129931529, LOC129931530, LOC129931531, LOC129931532, LOC129931533, LOC129931534, LOC129931535, LOC129931536, LOC129931537, LOC129931538, LOC129931539, LOC129931540, LOC129931541, LOC129931542, LOC129931543, LOC129931544, LOC129931545, LOC129931546, LOC129931547, LOC129931548, LOC129931549, LOC129931550, LOC129931551, LOC129931552, LOC129931553, LOC129931554, LOC129931555, LOC129931556, LOC129931557, LOC129931558, LOC129931559, LOC129931560, LOC129931561, LOC129931562, LOC129931563, LOC129931564, LOC129931565, LOC129931566, LOC129931567, LOC129931568, LOC129931569, LOC129931570, LOC129931571, LOC129931572, LOC129931573, LOC129931574, LOC129931575, LOC129931576, LOC129931577, LOC129931578, LOC129931579, LOC129931580, LOC129931581, LOC129931582, LOC129931583, LOC129931584, LOC129931585, LOC129931586, LOC129931587, LOC129931588, LOC129931589, LOC129931590, LOC129931591, LOC129931592, LOC129931593, LOC129931594, LOC129931595, LOC129931596, LOC129931597, LOC129931598, LOC129931599, LOC129931600, LOC129931601, LOC129931602, LOC129931603, LOC129931604, LOC129931605, LOC129931606, LOC129931607, LOC129931608, LOC129931609, LOC129931610, LOC129931611, LOC129931612, LOC129931613, LOC129931614, LOC129931615, LOC129931616, LOC129931617, LOC129931618, LOC129931619, LOC129931620, LOC129931621, LOC129931622, LOC129931623, LOC129931624, LOC129931625, LOC129931626, LOC129931627, LOC129931628, LOC129931629, LOC129931630, LOC129931631, LOC129931632, LOC129931633, LOC129931634, LOC129931635, LOC129931636, LOC129931637, LOC129931638, LOC129931639, LOC129931640, LOC129931641, LOC129931642, LOC129931643, LOC129931644, LOC129931645, LOC129931646, LOC129931647, LOC129931648, LOC129931649, LOC129931650, LOC129931651, LOC129931652, LOC129931653, LOC129931654, LOC129931655, LOC129931656, LOC129931657, LOC129931658, LOC129931659, LRRC71, MEF2D, METTL25B, MEX3A, MIR4258, MIR555, MIR6738, MIR765, MIR9-1, MIR9-1HG, MIR92B, MRPL24, MSTO1, MTX1, MUC1, NAXE, NES, NTRK1, PAQR6, PBXIP1, PEAR1, PKLR, PMF1, PMF1-BGLAP, PMVK, PRCC, PYGO2, RAB25, RHBG, RIT1, RUSC1, RUSC1-AS1, RXFP4, SCAMP3, SCARNA26A, SCARNA26B, SCARNA4, SEMA4A, SH2D2A, SHC1, SLC25A44, SLC50A1, SMG5, SNORA80E, SSR2, SYT11, THBS3, THBS3-AS1, TMEM79, TRIM46, TSACC, TTC24, UBQLN4, VHLL, YY1AP1, ZBTB7B | | See cases | Pathogenic (Mar 19, 2013) | no assertion criteria provided |
| - GRCh37:
- Chr1:155804210-156403997
- GRCh38:
- Chr1:155834419-156434205
| ARHGEF2, ARHGEF2-AS2, BGLAP, CCT3, GLMP, GON4L, KHDC4, LAMTOR2, LMNA, LOC110013312, LOC110121262, LOC111828496, LOC115801448, LOC120893162, LOC121725059, LOC122128441, LOC122128442, LOC122128443, LOC122128444, LOC122128445, LOC122128446, LOC126805876, LOC126805877, LOC129388612, LOC129931574, LOC129931575, LOC129931576, LOC129931577, LOC129931578, LOC129931579, LOC129931580, LOC129931581, LOC129931582, LOC129931583, LOC129931584, LOC129931585, LOC129931586, LOC129931587, LOC129931588, LOC129931589, LOC129931590, LOC129931591, LOC129931592, LOC129931593, LOC129931594, LOC129931595, LOC129931596, LOC129931597, LOC129931598, LOC129931599, LOC129931600, LOC129931601, LOC129931602, LOC129931603, LOC129931604, LOC129931605, LOC129931606, LOC129931607, LOC129931608, LOC129931609, LOC129931610, LOC129931611, LOC129931612, LOC129931613, LOC129931614, LOC129931615, LOC129931616, LOC129931617, LOC129931618, LOC129931619, MEX3A, MIR6738, MIR9-1, MIR9-1HG, PAQR6, PMF1, PMF1-BGLAP, RAB25, RHBG, RIT1, RXFP4, SCARNA4, SEMA4A, SLC25A44, SMG5, SNORA80E, SSR2, SYT11, TMEM79, TSACC, UBQLN4, VHLL | | See cases | Uncertain significance (Oct 24, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr1:155870169-156108907
- GRCh38:
- Chr1:155900378-156139116
| ARHGEF2-AS2, ARHGEF2, KHDC4, LAMTOR2, LMNA, LOC110121262, LOC120893162, LOC121725059, LOC122128442, LOC122128443, LOC122128444, LOC126805876, LOC126805877, LOC129931577, LOC129931578, LOC129931579, LOC129931580, LOC129931581, LOC129931582, LOC129931583, LOC129931584, LOC129931585, LOC129931586, LOC129931587, LOC129931588, LOC129931589, LOC129931590, LOC129931591, LOC129931592, LOC129931593, LOC129931594, LOC129931595, LOC129931596, LOC129931597, LOC129931598, LOC129931599, LOC129931600, MEX3A, MIR6738, RAB25, RIT1, RXFP4, SCARNA4, SNORA80E, SSR2, UBQLN4 | | Charcot-Marie-Tooth disease type 2 | Uncertain significance (Nov 2, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:155870170
- GRCh38:
- Chr1:155900379
| RIT1 | | not provided | Likely benign (Feb 9, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr1:155870171-155870175
- GRCh38:
- Chr1:155900380-155900384
| RIT1 | | not specified | Uncertain significance (Apr 26, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:155870184-155870186
- GRCh38:
- Chr1:155900393-155900395
| RIT1 | | not provided | Uncertain significance (Mar 20, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr1:155870189
- GRCh38:
- Chr1:155900398
| RIT1 | S181*, S217*, S234* | Noonan syndrome 8 | Uncertain significance (Jun 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:155870190-155870191
- GRCh38:
- Chr1:155900399-155900400
| RIT1 | | not specified | Uncertain significance (Apr 20, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr1:155870190
- GRCh38:
- Chr1:155900399
| RIT1 | S217fs, S234fs, S181fs | Noonan syndrome 8 | Uncertain significance (May 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:155870192-155870195
- GRCh38:
- Chr1:155900401-155900404
| RIT1 | K215fs, K232fs, K179fs | Noonan syndrome 8, not provided, Cardiovascular phenotype
| Conflicting interpretations of pathogenicity (Mar 2, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:155870193
- GRCh38:
- Chr1:155900402
| RIT1 | D233N, D180N, D216N | Noonan syndrome 8, Cardiovascular phenotype | Uncertain significance (Apr 11, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:155870194
- GRCh38:
- Chr1:155900403
| RIT1 | D180fs, D233fs, D216fs | Noonan syndrome 8 | Uncertain significance (Oct 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:155870200
- GRCh38:
- Chr1:155900409
| RIT1 | | not specified, Noonan syndrome 8 | Likely benign (Apr 11, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:155870204
- GRCh38:
- Chr1:155900413
| RIT1 | R176Q, R212Q, R229Q | Cardiovascular phenotype, Noonan syndrome 8, Noonan syndrome and Noonan-related syndrome
| Uncertain significance (Apr 11, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:155870205
- GRCh38:
- Chr1:155900414
| RIT1 | R212W, R176W, R229W | Cardiovascular phenotype, not specified, not provided, Noonan syndrome and Noonan-related syndrome, Noonan syndrome 8 | Conflicting interpretations of pathogenicity (Sep 28, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:155870221
- GRCh38:
- Chr1:155900430
| RIT1 | R206S, R170S, R223S | Noonan syndrome 8 | Uncertain significance (Mar 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:155870222
- GRCh38:
- Chr1:155900431
| RIT1 | R223T, R170T, R206T | Noonan syndrome 8 | Uncertain significance (Oct 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:155870224
- GRCh38:
- Chr1:155900433
| RIT1 | K205N, K169N, K222N | Cardiovascular phenotype | Uncertain significance (Oct 2, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr1:155870230
- GRCh38:
- Chr1:155900439
| RIT1 | | Cardiovascular phenotype, Noonan syndrome 8 | Likely benign (Apr 11, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:155870232
- GRCh38:
- Chr1:155900441
| RIT1 | V167I, V203I, V220I | Noonan syndrome 8 | Uncertain significance (Apr 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:155870235
- GRCh38:
- Chr1:155900444
| RIT1 | S202C, S219C, S166C | not specified | Uncertain significance (Nov 13, 2015) | criteria provided, single submitter |
| - GRCh37:
- Chr1:155870236
- GRCh38:
- Chr1:155900445
| RIT1 | | Noonan syndrome 8 | Likely benign (Jun 19, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr1:155870237
- GRCh38:
- Chr1:155900446
| RIT1 | N218S, N201S, N165S | Noonan syndrome 8, Cardiovascular phenotype | Conflicting interpretations of pathogenicity (Jun 6, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:155870241
- GRCh38:
- Chr1:155900450
| RIT1 | K164Q, K200Q, K217Q | Noonan syndrome 8 | Uncertain significance (Jul 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:155870245
- GRCh38:
- Chr1:155900454
| RIT1 | | Cardiovascular phenotype, Noonan syndrome 8, not provided
| Likely benign (Apr 11, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:155870250
- GRCh38:
- Chr1:155900459
| RIT1 | S161P, S197P, S214P | not specified, Noonan syndrome 8 | Uncertain significance (Apr 11, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:155870251
- GRCh38:
- Chr1:155900460
| RIT1 | K160N, K196N, K213N | Cardiovascular phenotype | Uncertain significance (Jan 7, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr1:155870252
- GRCh38:
- Chr1:155900461
| RIT1 | K160T, K196T, K213T | Noonan syndrome 8 | Uncertain significance (Sep 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:155870264
- GRCh38:
- Chr1:155900473
| RIT1 | A192V, A156V, A209V | not provided, Noonan syndrome 8 | Uncertain significance (Apr 11, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:155870266
- GRCh38:
- Chr1:155900475
| RIT1 | | Cardiovascular phenotype | Likely benign (Aug 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:155870267
- GRCh38:
- Chr1:155900476
| RIT1 | L208Q, L155Q, L191Q | Noonan syndrome 8 | Uncertain significance (Jul 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:155870269
- GRCh38:
- Chr1:155900478
| RIT1 | | Noonan syndrome 8 | Likely benign (Aug 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:155870273
- GRCh38:
- Chr1:155900482
| RIT1 | A189V, A153V, A206V | Noonan syndrome 8 | Uncertain significance (Mar 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:155870275
- GRCh38:
- Chr1:155900484
| RIT1 | | Noonan syndrome 8 | Likely benign (Apr 6, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:155870280
- GRCh38:
- Chr1:155900489
| RIT1 | K151Q, K187Q, K204Q | Cardiovascular phenotype, Noonan syndrome 8 | Uncertain significance (Apr 11, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:155870287
- GRCh38:
- Chr1:155900496
| RIT1 | | Noonan syndrome 8 | Likely benign (Oct 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:155870288
- GRCh38:
- Chr1:155900497
| RIT1 | R184M, R201M, R148M | not provided | Uncertain significance (Mar 5, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:155870289
- GRCh38:
- Chr1:155900498
| RIT1 | R148G, R184G, R201G | Noonan syndrome 8 | Uncertain significance (Apr 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:155870291
- GRCh38:
- Chr1:155900500
| RIT1 | R183H, R200H, R147H | Noonan syndrome 8 | Uncertain significance (Nov 11, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:155870292
- GRCh38:
- Chr1:155900501
| RIT1 | R183G, R147G, R200G | not provided | Uncertain significance (Jan 12, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr1:155870293
- GRCh38:
- Chr1:155900502
| RIT1 | I146M, I182M, I199M | Noonan syndrome 8, not provided | Uncertain significance (Apr 11, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:155870299
- GRCh38:
- Chr1:155900508
| RIT1 | | Cardiovascular phenotype, Noonan syndrome 8 | Likely benign (Apr 11, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:155870300
- GRCh38:
- Chr1:155900509
| RIT1 | R180Q, R197Q, R144Q | Inborn genetic diseases, not specified, Noonan syndrome 8
| Uncertain significance (Apr 11, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:155870301
- GRCh38:
- Chr1:155900510
| RIT1 | R180W, R197W, R144W | Cardiovascular phenotype | Uncertain significance (Nov 5, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:155870304
- GRCh38:
- Chr1:155900513
| RIT1 | V143I, V179I, V196I | Cardiovascular phenotype, Noonan syndrome 8 | Uncertain significance (Jun 26, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:155870307
- GRCh38:
- Chr1:155900516
| RIT1 | L178V, L142V, L195V | not specified, Cardiovascular phenotype, Noonan syndrome 8
| Uncertain significance (Apr 11, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:155870308
- GRCh38:
- Chr1:155900517
| RIT1 | | Cardiovascular phenotype | Likely benign (Jun 4, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr1:155870308
- GRCh38:
- Chr1:155900517
| RIT1 | | Noonan syndrome 8 | Likely benign (Jul 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:155870323
- GRCh38:
- Chr1:155900532
| RIT1 | | Cardiovascular phenotype, Noonan syndrome 8 | Likely benign (Apr 11, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:155870328
- GRCh38:
- Chr1:155900537
| RIT1 | I135V, I171V, I188V | not provided | Uncertain significance (Jun 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:155870329
- GRCh38:
- Chr1:155900538
| RIT1 | | Cardiovascular phenotype, Noonan syndrome 8 | Likely benign (Apr 11, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:155870331
- GRCh38:
- Chr1:155900540
| RIT1 | Y170H, Y134H, Y187H | not provided | Uncertain significance (Mar 13, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr1:155870333
- GRCh38:
- Chr1:155900542
| RIT1 | Y133C, Y169C, Y186C | not specified, Noonan syndrome 8 | Uncertain significance (Apr 11, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:155870336
- GRCh38:
- Chr1:155900545
| RIT1 | R185H, R132H, R168H | Noonan syndrome 8 | Uncertain significance (Jun 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:155870339
- GRCh38:
- Chr1:155900548
| RIT1 | Y167C, Y131C, Y184C | Noonan syndrome 8, Cardiovascular phenotype | Uncertain significance (May 4, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:155870341
- GRCh38:
- Chr1:155900550
| RIT1 | | not provided, Cardiovascular phenotype, Noonan syndrome 8
| Likely benign (Apr 11, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:155870347
- GRCh38:
- Chr1:155900556
| RIT1 | | Noonan syndrome 8 | Likely benign (Aug 14, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:155870348
- GRCh38:
- Chr1:155900557
| RIT1 | S128C, S164C, S181C | Noonan syndrome 8 | Uncertain significance (Jul 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:155870350
- GRCh38:
- Chr1:155900559
| RIT1 | | Noonan syndrome 8 | Likely benign (Sep 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:155870351
- GRCh38:
- Chr1:155900560
| RIT1 | T127I, T163I, T180I | Noonan syndrome and Noonan-related syndrome | Uncertain significance (Jun 21, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:155870378
- GRCh38:
- Chr1:155900587
| RIT1 | R154Q, R118Q, R171Q | not provided, Cardiovascular phenotype, Noonan syndrome 8
| Conflicting interpretations of pathogenicity (Oct 24, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:155870380
- GRCh38:
- Chr1:155900589
| RIT1 | | Cardiovascular phenotype | Likely benign (Nov 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:155870398
- GRCh38:
- Chr1:155900607
| RIT1 | | Cardiovascular phenotype, Noonan syndrome 8 | Likely benign (Apr 11, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:155870402
- GRCh38:
- Chr1:155900611
| RIT1 | K110R, K146R, K163R | not specified | Uncertain significance (Jul 16, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr1:155870414
- GRCh38:
- Chr1:155900623
| RIT1 | | Noonan syndrome 8 | Likely benign (Oct 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:155870416
- GRCh38:
- Chr1:155900625
| RIT1 | | Noonan syndrome 8, not specified, not provided
| Benign (Oct 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:155870425
- GRCh38:
- Chr1:155900634
| RIT1 | | Noonan syndrome 8 | Likely benign (Aug 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:155870427
- GRCh38:
- Chr1:155900636
| RIT1 | | Noonan syndrome 8 | Likely benign (Jul 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:155870427
- GRCh38:
- Chr1:155900636
| RIT1 | | Noonan syndrome 8 | Likely benign (Oct 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:155873924
- GRCh38:
- Chr1:155904133
| RIT1 | | not provided | Likely benign (Jul 7, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:155873952
- GRCh38:
- Chr1:155904161
| RIT1 | | not provided | Likely benign (Jul 7, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:155873960
- GRCh38:
- Chr1:155904169
| RIT1 | | not provided | Benign (Jun 14, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:155874082
- GRCh38:
- Chr1:155904291
| RIT1 | | Noonan syndrome 8 | Likely benign (Jan 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:155874087
- GRCh38:
- Chr1:155904296
| RIT1 | | Noonan syndrome 8 | Likely benign (Jul 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:155874093
- GRCh38:
- Chr1:155904302
| RIT1 | | Noonan syndrome 8 | Likely benign (Apr 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:155874108
- GRCh38:
- Chr1:155904317
| RIT1 | | Cardiovascular phenotype, Noonan syndrome 8 | Likely benign (Apr 11, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:155874118
- GRCh38:
- Chr1:155904327
| RIT1 | L155R, L102R, L138R | Noonan syndrome 8 | Uncertain significance (Jul 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:155874123
- GRCh38:
- Chr1:155904332
| RIT1 | | Cardiovascular phenotype | Likely benign (Mar 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:155874130
- GRCh38:
- Chr1:155904339
| RIT1 | N98S, N151S, N134S | Noonan syndrome 8 | Uncertain significance (Jul 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:155874138
- GRCh38:
- Chr1:155904347
| RIT1 | | Cardiovascular phenotype, Noonan syndrome 8, not specified
| Likely benign (Apr 11, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:155874140
- GRCh38:
- Chr1:155904349
| RIT1 | L95I, L131I, L148I | Inborn genetic diseases | Uncertain significance (Nov 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:155874144
- GRCh38:
- Chr1:155904353
| RIT1 | | Noonan syndrome 8 | Likely benign (Mar 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:155874146
- GRCh38:
- Chr1:155904355
| RIT1 | V129M, V146M, V93M | Cardiovascular phenotype | Uncertain significance (Mar 12, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr1:155874150
- GRCh38:
- Chr1:155904359
| RIT1 | | Noonan syndrome 8, not specified | Likely benign (Apr 11, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:155874150
- GRCh38:
- Chr1:155904359
| RIT1 | | Cardiovascular phenotype, Noonan syndrome 8 | Likely benign (Apr 11, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:155874152
- GRCh38:
- Chr1:155904361
| RIT1 | T91A, T144A, T127A | Noonan syndrome 8 | Uncertain significance (Apr 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:155874155
- GRCh38:
- Chr1:155904364
| RIT1 | D126N, D143N, D90N | Noonan syndrome 8, not provided | Uncertain significance (Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:155874156
- GRCh38:
- Chr1:155904365
| RIT1 | D125E, D142E, D89E | RIT1-related condition | Uncertain significance (Jan 9, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr1:155874156
- GRCh38:
- Chr1:155904365
| RIT1 | | Cardiovascular phenotype, Noonan syndrome and Noonan-related syndrome, Noonan syndrome 8, not specified, not provided | Benign (Apr 11, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:155874157
- GRCh38:
- Chr1:155904366
| RIT1 | D125G, D89G, D142G | Noonan syndrome 8, Inborn genetic diseases | Uncertain significance (Jun 6, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:155874158
- GRCh38:
- Chr1:155904367
| RIT1 | D125N, D142N, D89N | Cardiovascular phenotype | Uncertain significance (Aug 22, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:155874163
- GRCh38:
- Chr1:155904372
| RIT1 | R123H, R140H, R87H | Noonan syndrome 8, not provided | Conflicting interpretations of pathogenicity (Aug 16, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:155874164
- GRCh38:
- Chr1:155904373
| RIT1 | R87C, R123C, R140C | Inborn genetic diseases, Noonan syndrome 8, Cardiovascular phenotype
| Uncertain significance (Apr 11, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:155874166
- GRCh38:
- Chr1:155904375
| RIT1 | R122L, R139L, R86L | not provided, Megalencephaly-capillary malformation-polymicrogyria syndrome, Noonan syndrome 8, Noonan syndrome and Noonan-related syndrome, Noonan syndrome 8 | Conflicting interpretations of pathogenicity (Aug 8, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:155874167
- GRCh38:
- Chr1:155904376
| RIT1 | | Cardiovascular phenotype | Likely benign (Jul 8, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:155874172
- GRCh38:
- Chr1:155904381
| RIT1 | R120L, R137L, R84L | Cardiovascular phenotype | Uncertain significance (Feb 25, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr1:155874172
- GRCh38:
- Chr1:155904381
| RIT1 | R120Q, R137Q, R84Q | Noonan syndrome 8, Cardiovascular phenotype | Uncertain significance (Apr 11, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:155874173
- GRCh38:
- Chr1:155904382
| RIT1 | R120G, R137G, R84G | not specified | Uncertain significance (May 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:155874175
- GRCh38:
- Chr1:155904384
| RIT1 | Y119C, Y136C, Y83C | Cardiovascular phenotype | Uncertain significance (Sep 16, 2022) | criteria provided, single submitter |