| - 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:
- Chr1:150187139-150537483
- GRCh38:
- Chr1:150214843-150565007
| ADAMTSL4, ADAMTSL4-AS1, ADAMTSL4-AS2, ANP32E, APH1A, C1orf54, CA14, CIART, ECM1, FALEC, LOC115801443, LOC120893159, LOC122128422, LOC126805855, LOC126805856, LOC129931395, LOC129931396, LOC129931397, LOC129931398, LOC129931399, LOC129931400, LOC129931401, LOC129931402, LOC129931403, LOC129931404, LOC129931405, LOC129931406, LOC129931407, LOC129931408, LOC129931409, LOC129931410, LOC129931411, MIR4257, MIR6878, MRPS21, PRPF3, RPRD2, SNORD13C, TARS2 | | See cases | Likely benign (Sep 21, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr1:150480373
- GRCh38:
- Chr1:150507897
| ECM1 | | not provided | Benign (Jul 9, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:150480473
- GRCh38:
- Chr1:150507997
| ECM1 | | not provided | Likely benign (Jul 14, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:150480571
- GRCh38:
- Chr1:150508095
| ECM1 | | not provided | Benign (Jul 9, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:150480589
- GRCh38:
- Chr1:150508113
| ECM1 | | not provided | Benign (Jul 10, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:150480704
- GRCh38:
- Chr1:150508228
| ECM1 | A7T | Inborn genetic diseases | Uncertain significance (Jun 8, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:150481738
- GRCh38:
- Chr1:150509262
| ECM1 | | not provided | Benign (Jul 9, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:150481896
- GRCh38:
- Chr1:150509420
| ECM1 | | not provided | Benign (Jul 9, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:150481982
- GRCh38:
- Chr1:150509506
| ECM1 | | not provided | Likely benign (Jul 6, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:150482013
- GRCh38:
- Chr1:150509537
| ECM1 | T26M | Inborn genetic diseases | Uncertain significance (May 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:150482029-150482030
- GRCh38:
- Chr1:150509553-150509554
| ECM1 | | Lipid proteinosis | not provided | no assertion provided |
| - GRCh37:
- Chr1:150482054
- GRCh38:
- Chr1:150509578
| ECM1 | E40K | Inborn genetic diseases | Uncertain significance (Aug 10, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:150482134
- GRCh38:
- Chr1:150509658
| ECM1 | | Lipid proteinosis | Uncertain significance (Dec 13, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr1:150482145
- GRCh38:
- Chr1:150509669
| ECM1 | A44T | not provided | Benign (Dec 31, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr1:150482151
- GRCh38:
- Chr1:150509675
| ECM1 | P46A | Inborn genetic diseases | Uncertain significance (Feb 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:150482157
- GRCh38:
- Chr1:150509681
| ECM1 | S48fs | Lipid proteinosis | Likely pathogenic (Jan 22, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr1:150482159
- GRCh38:
- Chr1:150509683
| ECM1 | | not provided | Likely benign (Dec 31, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr1:150482162
- GRCh38:
- Chr1:150509686
| ECM1 | | not provided | Likely benign (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:150482172
- GRCh38:
- Chr1:150509696
| ECM1 | R53* | not provided, Lipid proteinosis | Pathogenic (Apr 11, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:150482255
- GRCh38:
- Chr1:150509779
| ECM1 | | not provided | Benign (Jul 9, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:150482278
- GRCh38:
- Chr1:150509802
| ECM1 | | not provided | Likely benign (Jul 10, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:150482306
- GRCh38:
- Chr1:150509830
| ECM1 | | Inborn genetic diseases | Uncertain significance (Oct 29, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:150482403
- GRCh38:
- Chr1:150509927
| ECM1 | P77S, P104S | Inborn genetic diseases | Uncertain significance (Aug 10, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:150482403
- GRCh38:
- Chr1:150509927
| ECM1 | P78fs, P105fs | not provided, ECM1-related condition, Lipid proteinosis
| Pathogenic/Likely pathogenic (Jun 13, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:150482405
- GRCh38:
- Chr1:150509929
| ECM1 | | not provided | Benign (Dec 31, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr1:150482406
- GRCh38:
- Chr1:150509930
| ECM1 | P78S, P105S | Inborn genetic diseases | Uncertain significance (Jan 26, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr1:150482411-150482412
- GRCh38:
- Chr1:150509935-150509936
| ECM1 | Q108fs, Q81fs | ECM1-related condition | Likely pathogenic (Apr 10, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr1:150482456
- GRCh38:
- Chr1:150509980
| ECM1 | | not provided | Likely benign (Feb 27, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:150482478
- GRCh38:
- Chr1:150510002
| ECM1 | V102M, V129M | Inborn genetic diseases | Uncertain significance (Aug 20, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:150482639
- GRCh38:
- Chr1:150510163
| ECM1 | | Lipid proteinosis, not provided | Benign/Likely benign (Apr 11, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:150482738
- GRCh38:
- Chr1:150510262
| ECM1 | | not provided | Benign (Jul 9, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:150483236
- GRCh38:
- Chr1:150510760
| ECM1 | | not provided | Benign (Jul 9, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:150483347
- GRCh38:
- Chr1:150510871
| ECM1 | | Inborn genetic diseases, not provided | Conflicting interpretations of pathogenicity (Mar 10, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:150483355
- GRCh38:
- Chr1:150510879
| ECM1 | T130M, T157M | Lipid proteinosis, not provided | Benign (Jul 30, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:150483402
- GRCh38:
- Chr1:150510926
| ECM1 | N173Y, N146Y | Inborn genetic diseases | Uncertain significance (Mar 20, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr1:150483446
- GRCh38:
- Chr1:150510970
| ECM1 | W160*, W187* | Lipid proteinosis | Pathogenic (Mar 1, 2003) | no assertion criteria provided |
| - GRCh37:
- Chr1:150483465
- GRCh38:
- Chr1:150510989
| ECM1 | F167V, F194V | ECM1-related condition | Uncertain significance (Nov 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:150483465
- GRCh38:
- Chr1:150510989
| ECM1 | F167I, F194I | Lipid proteinosis | Likely pathogenic (Jun 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:150483466-150483467
- GRCh38:
- Chr1:150510990-150510991
| ECM1 | G170fs, G197fs | not provided | Pathogenic (Oct 23, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr1:150483469
- GRCh38:
- Chr1:150510993
| ECM1 | P195H, P168H | Inborn genetic diseases | Uncertain significance (May 17, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr1:150483471
- GRCh38:
- Chr1:150510995
| ECM1 | P169A, P196A | not provided, Lipid proteinosis, Inborn genetic diseases
| Uncertain significance (Jun 6, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:150483473
- GRCh38:
- Chr1:150510997
| ECM1 | R171fs, R198fs | ECM1-related condition | Pathogenic (Jul 18, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr1:150483478
- GRCh38:
- Chr1:150511002
| ECM1 | R198L, R171L | Inborn genetic diseases | Uncertain significance (May 23, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr1:150483478
- GRCh38:
- Chr1:150511002
| ECM1 | R171Q, R198Q | Inborn genetic diseases | Uncertain significance (Dec 6, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:150483508-150483509
- GRCh38:
- Chr1:150511032-150511033
| ECM1 | C181*, C208* | Lipid proteinosis | Pathogenic (Jun 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:150483610
- GRCh38:
- Chr1:150511134
| ECM1 | I215T, I242T | Inborn genetic diseases | Likely benign (Nov 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:150483624
- GRCh38:
- Chr1:150511148
| ECM1 | C220G, C247G | Lipid proteinosis | not provided | no assertion provided |
| - GRCh37:
- Chr1:150483840
- GRCh38:
- Chr1:150511364
| ECM1 | | not provided | Benign (Jul 9, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:150483938
- GRCh38:
- Chr1:150511462
| ECM1 | | not provided | Likely benign (Dec 20, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:150483951
- GRCh38:
- Chr1:150511475
| ECM1 | R243*, R270* | Lipid proteinosis | not provided | no assertion provided |
| - GRCh37:
- Chr1:150483966
- GRCh38:
- Chr1:150511490
| ECM1 | E248*, E275* | Lipid proteinosis | not provided | no assertion provided |
| - GRCh37:
- Chr1:150483984
- GRCh38:
- Chr1:150511508
| ECM1 | R254*, R281* | not provided | Pathogenic (Oct 23, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr1:150484001
- GRCh38:
- Chr1:150511525
| ECM1 | | not provided | Likely benign (Jan 1, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr1:150484004
- GRCh38:
- Chr1:150511528
| ECM1 | | not provided | Benign (Jul 5, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:150484016
- GRCh38:
- Chr1:150511540
| ECM1 | | Lipid proteinosis, not provided | Benign (Apr 11, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:150484030
- GRCh38:
- Chr1:150511554
| ECM1 | C269Y, C296Y | Lipid proteinosis | Pathogenic (Aug 9, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:150484050
- GRCh38:
- Chr1:150511574
| ECM1 | Q276*, Q303* | Lipid proteinosis | not provided | no assertion provided |
| - GRCh37:
- Chr1:150484069
- GRCh38:
- Chr1:150511593
| ECM1 | R282Q, R309Q | Inborn genetic diseases | Uncertain significance (Aug 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:150484102
- GRCh38:
- Chr1:150511626
| ECM1 | S293L, S320L | Inborn genetic diseases | Uncertain significance (May 23, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr1:150484194
- GRCh38:
- Chr1:150511718
| ECM1 | N351H, N324H | Inborn genetic diseases | Uncertain significance (Jul 13, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:150484226
- GRCh38:
- Chr1:150511750
| ECM1 | | not provided | Likely benign (May 31, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:150484243
- GRCh38:
- Chr1:150511767
| ECM1 | Q340fs, Q367fs | Lipid proteinosis | Likely pathogenic (Oct 7, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:150484257
- GRCh38:
- Chr1:150511781
| ECM1 | F345I, F372I | Inborn genetic diseases | Uncertain significance (Oct 27, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:150484260
- GRCh38:
- Chr1:150511784
| ECM1 | Q346*, Q373* | Lipid proteinosis | Pathogenic (Apr 1, 2002) | no assertion criteria provided |
| - GRCh37:
- Chr1:150484317
- GRCh38:
- Chr1:150511841
| ECM1 | | not provided, Lipid proteinosis | Benign/Likely benign (Apr 11, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:150484396-150484397
- GRCh38:
- Chr1:150511920-150511921
| ECM1 | | not provided | Benign (Oct 2, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr1:150484555
- GRCh38:
- Chr1:150512079
| ECM1 | | not provided | Benign (Jul 9, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:150484631
- GRCh38:
- Chr1:150512155
| ECM1 | | not provided | Likely benign (Jul 10, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:150484844
- GRCh38:
- Chr1:150512368
| ECM1 | D367V, D394V, D242V | Lipid proteinosis, not provided | Benign/Likely benign (Apr 11, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:150484858
- GRCh38:
- Chr1:150512382
| ECM1 | R372W, R399W, R247W | not provided | Benign (Dec 31, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr1:150484898
- GRCh38:
- Chr1:150512422
| ECM1 | R385H, R260H, R412H | not provided | Benign (Dec 31, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr1:150484951-150484952
- GRCh38:
- Chr1:150512475-150512476
| ECM1 | N279*, N404*, N431* | Lipid proteinosis | Pathogenic (May 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:150484964
- GRCh38:
- Chr1:150512488
| ECM1 | R282Q, R434Q, R407Q | Inborn genetic diseases | Uncertain significance (Mar 1, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr1:150484986
- GRCh38:
- Chr1:150512510
| ECM1 | | not provided | Benign/Likely benign (Aug 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:150484987
- GRCh38:
- Chr1:150512511
| ECM1 | G290S, G415S, G442S | Lipid proteinosis | Benign (Jul 30, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:150484990
- GRCh38:
- Chr1:150512514
| ECM1 | R443*, R291*, R416* | Lipid proteinosis | Likely pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr1:150485030-150485031
- GRCh38:
- Chr1:150512554-150512555
| ECM1 | R305fs, R430fs, R457fs | Lipid proteinosis | Pathogenic (Mar 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:150485053-150485054
- GRCh38:
- Chr1:150512577-150512578
| ECM1 | | not provided | Benign (Oct 2, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr1:150485082-150486244
- GRCh38:
- Chr1:150512606-150513768
| ECM1 | | Lipid proteinosis | Pathogenic (Apr 1, 2002) | no assertion criteria provided |
| - GRCh37:
- Chr1:150485176
- GRCh38:
- Chr1:150512700
| ECM1 | | not provided | Benign (Jul 10, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:150485239
- GRCh38:
- Chr1:150512763
| ECM1 | R323H, R448H, R475H | not provided | Benign (Dec 31, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr1:150485531
- GRCh38:
- Chr1:150513055
| ECM1 | | not provided | Benign (Jul 9, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:150485566
- GRCh38:
- Chr1:150513090
| ECM1 | | not provided | Benign (Jul 9, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:150485571
- GRCh38:
- Chr1:150513095
| ECM1 | | not provided | Benign (Jul 9, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:150485599
- GRCh38:
- Chr1:150513123
| ECM1 | | not provided | Benign (Jul 10, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:150485712
- GRCh38:
- Chr1:150513236
| ECM1 | | Lipid proteinosis | Pathogenic (Aug 7, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:150485723
- GRCh38:
- Chr1:150513247
| ECM1 | F468C, F495C, F343C | Inborn genetic diseases | Uncertain significance (Dec 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:150485749
- GRCh38:
- Chr1:150513273
| ECM1 | R504C, R352C, R477C | Inborn genetic diseases | Uncertain significance (Jan 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:150485766-150485770
- GRCh38:
- Chr1:150513290-150513294
| ECM1 | A359fs, A484fs, A511fs | Lipid proteinosis | Pathogenic (Dec 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:150485832
- GRCh38:
- Chr1:150513356
| ECM1 | | not provided | Likely benign (Dec 26, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:150485868
- GRCh38:
- Chr1:150513392
| ECM1 | | not provided | Benign (Nov 27, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr1:150485884
- GRCh38:
- Chr1:150513408
| ECM1 | E549Q, E397Q, E522Q | Inborn genetic diseases | Uncertain significance (Jul 11, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr1:150485920
- GRCh38:
- Chr1:150513444
| ECM1 | T561A, T409A, T534A | Inborn genetic diseases | Uncertain significance (Aug 2, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:150486239
- GRCh38:
- Chr1:150513763
| ECM1 | | not provided | Benign (Jul 14, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:142535935-157648813
| ACP6, ADAM15, ADAMTSL4, ADAR, ANKRD34A, ANKRD35, ANP32E, ANXA9, APH1A, AQP10, ARHGEF11, ARHGEF2, ARNT, ASH1L, ATP8B2, BCAN, BCL9, BGLAP, BNIPL, BOLA1, C1orf43, C1orf54, C1orf56, C2CD4D, CA14, CCT3, CD160, CDC42SE1, CELF3, CERS2, CFAP141, CGN, CHD1L, CHRNB2, CHTOP, CIART, CKS1B, CLK2, CRABP2, CRCT1, CREB3L4, CRNN, CRTC2, CTSK, CTSS, DAP3, DCST1, DCST2, DENND4B, DPM3, ECM1, EFNA1, EFNA3, EFNA4, ENSA, ENTREP3, ETV3, ETV3L, FALEC, FAM72C, FAM72D, FCGR1A, FCRL3, FCRL4, FCRL5, FDPS, FLAD1, FLG, FLG2, FMO5, GABPB2, GATAD2B, GBA1, GJA5, GJA8, GLMP, GOLPH3L, GON4L, GPATCH4, GPR89A, GPR89B, H2AC18, H2AC19, H2AC20, H2AC21, H2BC18, H2BC21, H3C13, H3C14, H3C15, H4C14, H4C15, HAPLN2, HAX1, HCN3, HDGF, HJV, HORMAD1, HRNR, IL6R, ILF2, INSRR, INTS3, IQGAP3, ISG20L2, ITGA10, IVL, JTB, KCNN3, KHDC4, KPLCE, KPRP, KRTCAP2, LAMTOR2, LCE1A, LCE1B, LCE1C, LCE1D, LCE1E, LCE1F, LCE2A, LCE2B, LCE2C, LCE2D, LCE3A, LCE3B, LCE3C, LCE3D, LCE3E, LCE4A, LCE5A, LCE6A, LELP1, LENEP, LINGO4, LIX1L, LMNA, LOC101928034, LORICRIN, LRRC71, LYSMD1, MCL1, MEF2D, METTL25B, MEX3A, MINDY1, MIR9-1, MIR9-1HG, MLLT11, MRPL24, MRPL9, MRPS21, MSTO1, MTMR11, MTX1, MUC1, NAXE, NBPF10, NBPF11, NBPF12, NBPF15, NBPF8, NBPF9, NES, NOTCH2NLA, NPR1, NTRK1, NUDT17, NUP210L, OAZ3, OTUD7B, PAQR6, PBXIP1, PDE4DIP, PDZK1, PEAR1, PEX11B, PGLYRP3, PGLYRP4, PI4KB, PIAS3, PIP5K1A, PKLR, PLEKHO1, PMF1, PMF1-BGLAP, PMVK, POGZ, POLR3C, POLR3GL, PPIAL4A, PPIAL4C, PPIAL4D, PPIAL4E, PPIAL4F, PPIAL4G, PRCC, PRKAB2, PRPF3, PRR9, PRUNE1, PSMB4, PSMD4, PYGO2, RAB13, RAB25, RBM8A, RFX5, RHBG, RIIAD1, RIT1, RNF115, RORC, RPRD2, RPS27, RPTN, RUSC1, RUSC1-AS1, RXFP4, S100A1, S100A10, S100A11, S100A12, S100A13, S100A14, S100A16, S100A2, S100A3, S100A4, S100A5, S100A6, S100A7, S100A7A, S100A8, S100A9, SCAMP3, SCNM1, SELENBP1, SEMA4A, SEMA6C, SETDB1, SF3B4, SH2D2A, SHC1, SHE, SLC25A44, SLC27A3, SLC39A1, SLC50A1, SMCP, SMG5, SNAPIN, SNX27, SPRR1A, SPRR1B, SPRR2A, SPRR2B, SPRR2D, SPRR2E, SPRR2F, SPRR2G, SPRR3, SPRR4, SRGAP2B, SSR2, SV2A, SYT11, TARS2, TCHH, TCHHL1, TDRD10, TDRKH, THBS3, THEM4, THEM5, TMEM79, TMOD4, TNFAIP8L2, TPM3, TRH-GTG2-1, TRIM46, TRN-GTT2-7, TSACC, TTC24, TUFT1, TXNIP, UBAP2L, UBE2Q1, UBQLN4, VHLL, VPS45, VPS72, YY1AP1, ZBTB7B, ZNF687 | | Chromosome 1q21.1 duplication syndrome | Pathogenic (Oct 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:149895434-156851434
| KCNN3, KHDC4, KPLCE, KPRP, LCE1A, LCE1B, LCE1C, LCE1D, LCE1E, KRTCAP2, LAMTOR2, LCE3B, LCE3A, LCE1F, LCE2A, LCE2B, LCE2C, LCE2D, LCE3C, LCE3D, LCE3E, LCE4A, LCE5A, LCE6A, LELP1, LENEP, LINGO4, LMNA, LOC101928034, LORICRIN, LYSMD1, MCL1, MEF2D, METTL25B, MEX3A, MINDY1, MIR9-1, MIR9-1HG, MLLT11, MRPL24, MRPL9, MRPS21, MSTO1, MTMR11, MTX1, MUC1, NAXE, NES, NPR1, NTRK1, NUP210L, OAZ3, OTUD7B, PAQR6, PBXIP1, PGLYRP3, PGLYRP4, PI4KB, PIP5K1A, PKLR, PLEKHO1, PMF1, PMF1-BGLAP, PMVK, POGZ, PRCC, PRPF3, PRR9, PRUNE1, PSMB4, PSMD4, PYGO2, RAB13, RAB25, RFX5, RHBG, RIIAD1, RIT1, RORC, RPRD2, RPS27, RPTN, RUSC1, RUSC1-AS1, RXFP4, S100A1, S100A10, S100A11, S100A12, S100A13, S100A14, S100A16, S100A2, S100A3, S100A4, S100A5, S100A6, S100A7, S100A7A, S100A8, S100A9, SCAMP3, SCNM1, SELENBP1, SEMA4A, SEMA6C, SETDB1, SF3B4, SH2D2A, SHC1, SHE, SLC25A44, SLC27A3, SLC39A1, SLC50A1, SMCP, SMG5, SNAPIN, SNX27, SPRR1A, SPRR1B, SPRR2A, SPRR2B, SPRR2D, SPRR2E, SPRR2F, SPRR2G, SPRR3, SPRR4, SSR2, SYT11, TARS2, TCHH, TCHHL1, TDRD10, TDRKH, THBS3, THEM4, THEM5, TMEM79, TMOD4, TNFAIP8L2, TPM3, TRIM46, TSACC, TTC24, TUFT1, UBAP2L, UBE2Q1, UBQLN4, VHLL, VPS45, VPS72, YY1AP1, ZBTB7B, ZNF687, ADAM15, ADAMTSL4, ADAR, ANP32E, ANXA9, APH1A, AQP10, ARHGEF2, ARNT, ASH1L, ATP8B2, BCAN, BGLAP, BNIPL, C1orf43, C1orf54, C1orf56, C2CD4D, CA14, CCT3, CDC42SE1, CELF3, CERS2, CFAP141, CGN, CHRNB2, CHTOP, CIART, CKS1B, CLK2, CRABP2, CRCT1, CREB3L4, CRNN, CRTC2, CTSK, CTSS, DAP3, DCST1, DCST2, DENND4B, DPM3, ECM1, EFNA1, EFNA3, EFNA4, ENSA, ENTREP3, FALEC, FDPS, FLAD1, FLG, FLG2, GABPB2, GATAD2B, GBA1, GLMP, GOLPH3L, GON4L, GPATCH4, HAPLN2, HAX1, HCN3, HDGF, HORMAD1, HRNR, IL6R, ILF2, INSRR, INTS3, IQGAP3, ISG20L2, IVL, JTB | | Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency, Congenital neutropenia-myelofibrosis-nephromegaly syndrome, MHC class II deficiency, Kostmann syndrome | Uncertain significance (Mar 25, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:130980840-248900000
| BGLAP, BLZF1, CFAP126, DUSP12, DUSP23, FMO1, IGFN1, IGSF8, LCE5A, MRPS21, MSTO1, MT1HL1, MTARC1, OR10R2, OR10T2, PEAR1, PTPN7, S100A11, S100A12, S100A13, S100A14, SNRPE, TMEM63A, TMEM79, ZBTB37, ZBTB41, ZP4, ZNF124, ZNF687, ZNF695, ZNF281, ZNF496, ZNF648, ZNF669, ZNF670, ZNF678, TMEM81, TMEM9, TMOD4, TNFAIP8L2, TNFSF18, TNFSF4, TNN, TNNI1, TOR3A, TP53BP2, TPM3, TPR, TRAF3IP3, TRAF5, TRH-GTG2-1, SNX27, SOAT1, SOX13, SPRR1B, SPRR2D, SPRR2A, SPRR2B, ZBTB7B, ZC3H11A, SPATA17, SPATA45, SPATA46, SPHAR, S100A5, SCNM1, SCYL3, S100A16, S100A2, S100A3, S100A4, S100A6, S100A7, S100A7A, S100A8, S100A9, SPMIP3, SPRR1A, RABGAP1L, RABIF, PYCR2, PYGO2, PYHIN1, QSOX1, RAB13, RAB25, RAB29, RAB3GAP2, RAB4A, SCAMP3, SCCPDH, PI4KB, PIGC, PIAS3, PFKFB2, PGBD5, PGLYRP3, PGLYRP4, PHLDA3, PTPRC, OR2AK2, OR2B11, OR14A16, OR14C36, OR1C1, OR2C3, PEX11B, PEX19, PFDN2, OR11L1, OR13G1, OR14I1, OR10X1, OR10Z1, MTR, MTX1, MUC1, NAV1, NAXE, NBPF10, NBPF11, NBPF12, NBPF15, MTARC2, MTMR11, MYBPH, MYOC, MYOG, LPGAT1, LRRC52, LEFTY2, LELP1, LEMD1, LENEP, LGALS8, LCE6A, LEFTY1, LGR6, LIX1L, IL24, IL6R, ILDR2, IL20, ILF2, INAVA, INSRR, INTS3, INTS7, IGSF9, IKBKE, IKBKE-AS1, IPO9, IQGAP3, IRF2BP2, IL10, IL19, GNPAT, GOLPH3L, GOLT1A, GALNT2, GABPB2, GAS5, GON4L, GARIN4, ELF3, ELK4, ENAH, ENSA, ENTREP3, EDEM3, EFCAB2, DYRK3, ECM1, EDARADD, EPHX1, EPRS1, EFNA1, EFNA3, EFNA4, EGLN1, EIF2D, CHTOP, CFHR2, CFHR3, CFAP141, CFAP45, CFHR4, CIART, CKS1B, CLK2, CFH, CFHR1, CFHR5, CGN, CHRNB2, C1orf116, C1orf131, C1orf198, BNIPL, BOLA1, C1orf43, C1orf21, C1orf226, C1orf35, BPNT1, BRINP2, BRINP3, BROX, BTG2, BTNL10, C1orf105, C1orf115, ABCB10, ACTN2, ADAM15, ACP6, ACTA1, ABL2, ACBD3, ACBD6, ACKR1, ADAMTS4, ADAMTSL4, ADAR, ADCY10, ADIPOR1, ADORA1, ADSS2, AGT, AHCTF1, AIDA, AIM2, AKT3, ALDH9A1, ANGEL2, ANGPTL1, ANKRD34A, ANKRD35, ANKRD45, ANP32E, ANXA9, APCS, APH1A, APOA2, APOBEC4, AQP10, ARF1, ARHGAP30, ARHGEF11, ARHGEF2, ARID4B, ARL8A, ARNT, ARPC5, ARV1, ASCL5, ASH1L, ASPM, ASTN1, ATF3, ATF6, ATP1A2, ATP1A4, ATP1B1, ATP2B4, ATP6V1G3, ATP8B2, AVPR1B, AXDND1, B3GALNT2, B3GALT2, B4GALT3, BATF3, BCAN, BCL9, C1orf53, C1orf54, C1orf56, C1orf74, C2CD4D, C4BPA, C4BPB, CA14, CACNA1E, CACNA1S, CACYBP, CADM3, CAMK1G, CAMSAP2, CAPN2, CAPN8, CAPN9, CASQ1, CATSPERE, CCDC181, CCDC185, CCDC190, CCSAP, CCT3, CD160, CD1A, CD1B, CD1C, CD1D, CD1E, CD244, CD247, CD34, CD46, CD48, CD55, CD5L, CD84, CDC42BPA, CDC42SE1, CDC73, CDK18, CELF3, CENPF, CENPL, CEP170, CEP350, CERS2, CHD1L, CHI3L1, CHIT1, CHML, CHRM3, CNIH3, CNIH4, CNST, CNTN2, COA6, COG2, COLGALT2, COP1, COPA, COQ8A, COX20, CR1, CR1L, CR2, CRABP2, CRB1, CRCT1, CREB3L4, CREG1, CRNN, CRP, CRTC2, CSRP1, CTSE, CTSK, CTSS, CYB5R1, DAP3, DARS2, DCAF6, DCAF8, DCAF8-DT, DCST1, DCST2, DDR2, DDX59, DEDD, DEGS1, DENND1B, DENND4B, DESI2, DHX9, DISC1, DISC2, DISP1, DNAH14, DNM3, DNM3OS, DPM3, DPT, DSTYK, DTL, DUSP10, ERO1B, ESRRG, ETNK2, ETV3, ETV3L, EXO1, EXOC8, F11R, F13B, F5, FALEC, FAM163A, FAM177B, FAM20B, FAM72A, FAM72C, FAM72D, FAM78B, FAM89A, FASLG, FBXO28, FCAMR, FCER1A, FCER1G, FCGR1A, FCGR2A, FCGR2B, FCGR2C, FCGR3A, FCGR3B, FCMR, FCRL1, FCRL2, FCRL3, FCRL4, FCRL5, FCRL6, FCRLA, FCRLB, FDPS, FH, FIRRM, FLAD1, FLG, FLG2, FLVCR1, FLVCR1-DT, FMN2, FMO2, FMO3, FMO4, FMO5, FMOD, G0S2, GATAD2B, GBA1, GCSAML, GGPS1, GJA5, GJA8, GJC2, GLMP, GLRX2, GLUL, GNG4, GORAB, GPA33, GPATCH2, GPATCH4, GPR137B, GPR161, GPR25, GPR37L1, GPR52, GPR89A, GPR89B, GREM2, GUK1, H2AC18, H2AC19, H2AC20, H2AC21, H2AC25, H2BC18, H2BC21, H2BC26, H3-3A, H3-4, H3C13, H3C14, H3C15, H4C14, H4C15, HAPLN2, HAX1, HCN3, HDGF, HEATR1, HHAT, HHIPL2, HJV, HLX, HMCN1, HNRNPU, HORMAD1, HRNR, HSD11B1, HSD17B7, HSPA6, IARS2, IBA57, IER5, IFI16, IRF6, ISG20L2, ITGA10, ITLN1, ITLN2, ITPKB, IVL, IVNS1ABP, JMJD4, JTB, KCNH1, KCNJ10, KCNJ9, KCNK1, KCNK2, KCNN3, KCNT2, KCTD3, KDM5B, KHDC4, KIAA0040, KIAA1614, KIF14, KIF21B, KIF26B, KIFAP3, KIRREL1, KIRREL1-IT1, KISS1, KLHDC8A, KLHDC9, KLHL12, KLHL20, KMO, KPLCE, KPRP, KRTCAP2, LAD1, LAMB3, LAMC1, LAMC2, LAMTOR2, LAX1, LBR, LCE1A, LCE1B, LCE1C, LCE1D, LCE1E, LCE1F, LCE2A, LCE2B, LCE2C, LCE2D, LCE3A, LCE3B, LCE3C, LCE3D, LCE3E, LCE4A, LHX4, LHX9, LIN9, LINC00538, LINC02897, LINGO4, LMNA, LMOD1, LMX1A, LNCATV, LOC101928034, LORICRIN, LRRC71, LRRN2, LY9, LYPLAL1, LYSMD1, LYST, MAEL, MAP10, MAP1LC3C, MAP3K21, MAPKAPK2, MARK1, MCL1, MDM4, MEF2D, METTL13, METTL18, METTL25B, MEX3A, MFSD4A, MGST3, MIA3, MINDY1, MIR181A1, MIR181B1, MIR194-1, MIR199A2, MIR205, MIR205HG, MIR214, MIR215, MIR29B2CHG, MIR29C, MIR3120, MIR9-1, MIR9-1HG, MIXL1, MLLT11, MNDA, MPC2, MPZ, MPZL1, MR1, MROH9, MRPL24, MRPL55, MRPL9, MRPS14, NBPF8, NBPF9, NCF2, NCSTN, NDUFS2, NECTIN4, NEK2, NEK7, NENF, NES, NFASC, NHLH1, NIBAN1, NID1, NIT1, NLRP3, NME7, NMNAT2, NOS1AP, NOTCH2NLA, NPHS2, NPL, NPR1, NR1I3, NR5A2, NSL1, NTMT2, NTPCR, NTRK1, NUAK2, NUCKS1, NUDT17, NUF2, NUP133, NUP210L, NVL, OAZ3, OBSCN, OCLM, ODR4, OLFML2B, OPN3, OPTC, OR10J1, OR10J3, OR10J5, OR10K1, OR10K2, OR2G2, OR2G3, OR2G6, OR2L13, OR2L2, OR2L3, OR2L5, OR2L8, OR2M2, OR2M3, OR2M4, OR2M5, OR2M7, OR2T1, OR2T10, OR2T11, OR2T12, OR2T2, OR2T27, OR2T29, OR2T3, OR2T33, OR2T34, OR2T35, OR2T4, OR2T5, OR2T6, OR2T8, OR2W3, OR6F1, OR6K2, OR6K3, OR6K6, OR6N1, OR6N2, OR6P1, OR6Y1, OTUD7B, PACC1, PAPPA2, PAQR6, PARP1, PBX1, PBXIP1, PCAT6, PCNX2, PCP4L1, PDC, PDE4DIP, PDZK1, PEA15, PIGM, PIGR, PIK3C2B, PIP5K1A, PKLR, PKP1, PLA2G4A, PLD5, PLEKHA6, PLEKHO1, PLXNA2, PM20D1, PMF1, PMF1-BGLAP, PMVK, POGK, POGZ, POLR3C, POLR3GL, POU2F1, PPFIA4, PPIAL4A, PPIAL4C, PPIAL4D, PPIAL4E, PPIAL4F, PPIAL4G, PPOX, PPP1R12B, PPP1R15B, PPP2R5A, PRCC, PRDX6, PRELP, PRG4, PRKAB2, PROX1, PRPF3, PRR9, PRRC2C, PRRX1, PRSS38, PRUNE1, PSEN2, PSMB4, PSMD4, PTGS2, PTPN14, RALGPS2, RASAL2, RASSF5, RBBP5, RBM34, RBM8A, RC3H1, RCOR3, RCSD1, RD3, REN, RFX5, RGL1, RGS1, RGS13, RGS16, RGS18, RGS2, RGS21, RGS4, RGS5, RGS7, RGS8, RGSL1, RHBG, RHEX, RHOU, RIIAD1, RIT1, RNASEL, RNF115, RNF187, RNF2, RNPEP, RO60, RORC, RPRD2, RPS27, RPS6KC1, RPTN, RRP15, RUSC1, RUSC1-AS1, RXFP4, RXRG, RYR2, S100A1, S100A10, SDCCAG8, SDE2, SDHC, SEC16B, SELE, SELENBP1, SELL, SELP, SEMA4A, SEMA6C, SERPINC1, SERTAD4, SETDB1, SF3B4, SFT2D2, SH2D1B, SH2D2A, SHC1, SHCBP1L, SHE, SHISA4, SIPA1L2, SLAMF1, SLAMF6, SLAMF7, SLAMF8, SLAMF9, SLC19A2, SLC25A44, SLC26A9, SLC27A3, SLC30A1, SLC30A10, SLC35F3, SLC39A1, SLC41A1, SLC45A3, SLC50A1, SLC9C2, SMCP, SMG5, SMG7, SMYD2, SMYD3, SNAP47, SNAPIN, SNHG28, SPRR2E, SPRR2F, SPRR2G, SPRR3, SPRR4, SPRTN, SPTA1, SRGAP2, SRGAP2B, SRP9, SSR2, STUM, STX6, STYXL2, SUCO, SUSD4, SV2A, SWT1, SYT11, SYT14, SYT2, TADA1, TAF1A, TAF5L, TAGLN2, TARBP1, TARS2, TATDN3, TBCE, TBX19, TCHH, TCHHL1, TDRD10, TDRD5, TDRKH, TEDDM1, TEX35, TFB2M, TGFB2, THBS3, THEM4, THEM5, TIMM17A, TIPRL, TLR5, TMCC2, TMCO1, TMEM183A, TNNT2, TNR, TOMM20, TOMM40L, TOR1AIP1, TOR1AIP2, TRIM11, TRIM17, TRIM46, TRIM58, TRIM67, TRMT1L, TRN-GTT2-7, TSACC, TSEN15, TSNAX, TSTD1, TTC13, TTC24, TUFT1, TXNIP, UAP1, UBAP2L, UBE2Q1, UBE2T, UBQLN4, UCHL5, UCK2, UFC1, UHMK1, URB2, USF1, USH2A, USP21, UTP25, VAMP4, VANGL2, VASH2, VHLL, VN1R5, VPS45, VPS72, VSIG8, WDR26, WDR64, WNT3A, WNT9A, XCL1, XCL2, XPR1, YOD1, YY1AP1, ZBED6, ZBTB18 | | Paragangliomas 3, Gastrointestinal stroma tumor, Parathyroid carcinoma
| Uncertain significance (Feb 14, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr1:150270870-150527943
| ADAMTSL4, ECM1, FALEC, MRPS21, PRPF3, RPRD2, TARS2 | | not provided | Uncertain significance (Jun 8, 2017) | no assertion criteria provided |
| - GRCh37:
- Chr1:150455813-150526044
| ADAMTSL4, ECM1, FALEC, TARS2 | | not provided | Benign (Dec 14, 2012) | no assertion criteria provided |