| - GRCh37:
- Chr19:233565-4699484
- GRCh38:
- Chr19:233565-4699472
| ABCA7, ABHD17A, ADAMTSL5, ADAT3, AMH, ANKRD24, AP3D1, APBA3, APC2, ARHGAP45, ARID3A, ATCAY, ATP5F1D, ATP8B3, AZU1, BSG, BSG-AS1, BTBD2, C19orf25, C2CD4C, CACTIN, CACTIN-AS1, CBARP, CBARP-DT, CDC34, CELF5, CFD, CHAF1A, CIRBP, CIRBP-AS1, CNN2, CREB3L3, CSNK1G2, CSNK1G2-AS1, DAPK3, DAZAP1, DIRAS1, DOHH, DOT1L, DPP9, DPP9-AS1, EBI3, EEF2, EFNA2, ELANE, FAM174C, FGF22, FSD1, FSTL3, FZR1, GADD45B, GAMT, GIPC3, GNA11, GNA15, GNA15-DT, GNG7, GPX4, GRIN3B, GZMM, HCN2, HDGFL2, HMG20B, IZUMO4, JSRP1, KISS1R, KLF16, LINC01775, LINGO3, LMNB2, LOC100288123, LOC106804547, LOC108254692, LOC108281123, LOC108348031, LOC108783649, LOC110006317, LOC110006318, LOC111413035, LOC111556134, LOC111721712, LOC111828491, LOC111828492, LOC112543439, LOC112543440, LOC112543441, LOC112543443, LOC112543475, LOC112543476, LOC112543477, LOC112543480, LOC112543481, LOC112543482, LOC112543490, LOC113939966, LOC113939970, LOC116276493, LOC116276494, LOC116276495, LOC116276496, LOC116276497, LOC116276498, LOC121627842, LOC121627843, LOC121627844, LOC121627845, LOC121627846, LOC121627847, LOC121627848, LOC121627849, LOC121627850, LOC121627851, LOC121852971, LOC121852972, LOC121852973, LOC121852974, LOC125371444, LOC125371446, LOC125371447, LOC125371448, LOC125371449, LOC125371450, LOC125371451, LOC125371452, LOC125371453, LOC125371455, LOC125371457, LOC126862835, LOC126862836, LOC126862837, LOC126862838, LOC126862839, LOC126862840, LOC128772422, LOC128772423, LOC128772424, LOC128900001, LRG1, LSM7, MADCAM1, MADCAM1-AS1, MIDN, MAP2K2, MATK, MBD3, MED16, MEX3D, MFSD12, MIER2, MIR1227, MIR1909, MIR3187, MIR4321, MIR4745, MIR4746, MIR637, MIR6789, MIR7108, MIR7850, MISP, MKNK2, MOB3A, MPND, MRPL54, MYDGF, NCLN, NDUFS7, NFIC, NMRK2, OAZ1, ODF3L2, ONECUT3, PALM, PCSK4, PEAK3, PIAS4, PIP5K1C, PLEKHJ1, PLIN4, PLIN5, PLK5, PLPP2, PLPPR3, POLR2E, POLRMT, PRSS57, PRTN3, PTBP1, PWWP3A, R3HDM4, RAX2, REEP6, REXO1, RNF126, RNU6-2, RNU6-9, RPS15, S1PR4, SBNO2, SCAMP4, SEMA6B, SF3A2, SGTA, SH3GL1, SHC2, SHD, SIRT6, SLC39A3, SMIM24, SMIM44, SNORD37, SPPL2B, STAP2, STK11, TBXA2R, TCF3, TEKTIP1, THEG, THOP1, TIMM13, TJP3, TLE2, TLE5, TLE6, TMEM259, TMIGD2, TMPRSS9, TNFAIP8L1, TPGS1, TRF-GAA1-6, TRN-GTT2-6, UBXN6, UQCR11, WDR18, YJU2, ZBTB7A, ZFR2, ZNF554, ZNF555, ZNF556, ZNF57, ZNF77 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr19:259395-6795622
- GRCh38:
- Chr19:259395-6795611
| ABCA7, ABHD17A, ACER1, ACSBG2, ADAMTSL5, ADAT3, ALKBH7, AMH, ANKRD24, AP3D1, APBA3, APC2, ARHGAP45, ARID3A, ARRDC5, ATCAY, ATP5F1D, ATP8B3, AZU1, BSG, BSG-AS1, BTBD2, C19orf25, C2CD4C, C3, CACTIN, CACTIN-AS1, CAPS, CATSPERD, CBARP, CBARP-DT, CD70, CDC34, CELF5, CFD, CHAF1A, CIRBP, CIRBP-AS1, CLPP, CNN2, CRB3, CREB3L3, CSNK1G2, CSNK1G2-AS1, DAPK3, DAZAP1, DENND1C, DIRAS1, DOHH, DOT1L, DPP9, DPP9-AS1, DUS3L, EBI3, EEF2, EFNA2, ELANE, FAM174C, FEM1A, FGF22, FSD1, FSTL3, FUT3, FUT5, FUT6, FZR1, GADD45B, GAMT, GIPC3, GNA11, GNA15, GNA15-DT, GNG7, GPR108, GPX4, GRIN3B, GTF2F1, GZMM, HCN2, HDGFL2, HMG20B, HSD11B1L, IZUMO4, JSRP1, KDM4B, KHSRP, KISS1R, KLF16, LINC01775, LINGO3, LMNB2, LOC100288123, LOC101928844, LOC106804547, LOC108254692, LOC108281123, LOC108348031, LOC108783649, LOC110006317, LOC110006318, LOC111413035, LOC111556134, LOC111721712, LOC111828491, LOC111828492, LOC111828495, LOC112543439, LOC112543440, LOC112543441, LOC112543443, LOC112543475, LOC112543476, LOC112543477, LOC112543480, LOC112543481, LOC112543482, LOC112543490, LOC112552148, LOC112552174, LOC112552175, LOC112552176, LOC113939966, LOC113939970, LOC113939971, LOC113939974, LOC116276493, LOC116276494, LOC116276495, LOC116276496, LOC116276497, LOC116276498, LOC116276499, LOC116276500, LOC121627842, LOC121627843, LOC121627844, LOC121627845, LOC121627846, LOC121627847, LOC121627848, LOC121627849, LOC121627850, LOC121627851, LOC121627852, LOC121627853, LOC121852971, LOC121852972, LOC121852973, LOC121852974, LOC121852975, LOC121852976, LOC125371444, LOC125371446, LOC125371447, LOC125371448, LOC125371449, LOC125371450, LOC125371451, LOC125371452, LOC125371453, LOC125371455, LOC125371457, LOC125371459, LOC125371460, LOC125371461, LOC125371462, LOC125371463, LOC125371464, LOC125371465, LOC126862835, LOC126862836, LOC126862837, LOC126862838, LOC126862839, LOC126862840, LOC126862841, LOC126862842, LOC126862843, LOC126862844, LOC126862845, LOC126862846, LOC126862847, LOC128772422, LOC128772423, LOC128772424, LOC128900001, LOC390877, LONP1, LRG1, LSM7, MADCAM1, MADCAM1-AS1, MAP2K2, MATK, MBD3, MED16, MEX3D, MFSD12, MICOS13, MIDN, MIER2, MIR1227, MIR1909, MIR3187, MIR3940, MIR4321, MIR4745, MIR4746, MIR4747, MIR637, MIR6789, MIR6790, MIR6791, MIR6885, MIR7-3, MIR7-3HG, MIR7108, MIR7850, MISP, MKNK2, MLLT1, MOB3A, MPND, MRPL54, MYDGF, NCLN, NDUFA11, NDUFS7, NFIC, NMRK2, NRTN, OAZ1, ODF3L2, ONECUT3, PALM, PCSK4, PEAK3, PIAS4, PIP5K1C, PLEKHJ1, PLIN3, PLIN4, PLIN5, PLK5, PLPP2, PLPPR3, POLR2E, POLRMT, PRR22, PRSS57, PRTN3, PSPN, PTBP1, PTPRS, PWWP3A, R3HDM4, RANBP3, RANBP3-DT, RAX2, REEP6, REXO1, RFX2, RNF126, RNU6-2, RNU6-9, RPL36, RPS15, S1PR4, SAFB, SAFB2, SBNO2, SCAMP4, SEMA6B, SF3A2, SGTA, SH2D3A, SH3GL1, SHC2, SHD, SIRT6, SLC25A23, SLC25A41, SLC39A3, SMIM24, SMIM44, SNORD37, SPPL2B, STAP2, STK11, TBXA2R, TCF3, TEKTIP1, THEG, THOP1, TICAM1, TIMM13, TINCR, TJP3, TLE2, TLE5, TLE6, TMEM259, TMIGD2, TMPRSS9, TNFAIP8L1, TNFSF14, TNFSF9, TPGS1, TRF-GAA1-6, TRG-TCC1-1, TRIP10, TRN-GTT2-6, TRV-CAC3-1, TUBB4A, UBXN6, UHRF1, UQCR11, VAV1, VMAC, WDR18, YJU2, ZBTB7A, ZFR2, ZNF554, ZNF555, ZNF556, ZNF57, ZNF77, ZNRF4 | | See cases | Pathogenic (Feb 11, 2011) | no assertion criteria provided |
| - GRCh37:
- Chr19:1549143-4288717
- GRCh38:
- Chr19:1549144-4288720
| ABHD17A, ADAT3, AMH, ANKRD24, AP3D1, APBA3, ATCAY, ATP8B3, BTBD2, CACTIN, CACTIN-AS1, CELF5, CREB3L3, CSNK1G2, CSNK1G2-AS1, DAPK3, DIRAS1, DOHH, DOT1L, EBI3, EEF2, FZR1, GADD45B, GIPC3, GNA11, GNA15, GNA15-DT, GNG7, HMG20B, IZUMO4, JSRP1, KLF16, LINC01775, LINGO3, LMNB2, LOC100288123, LOC106804547, LOC108348031, LOC108783649, LOC111556134, LOC111721712, LOC112543440, LOC112543441, LOC112543443, LOC112543475, LOC112543476, LOC112543477, LOC112543480, LOC112543481, LOC112543482, LOC112543490, LOC113939970, LOC116276497, LOC116276498, LOC121627845, LOC121627846, LOC121627847, LOC121627848, LOC121627849, LOC121852972, LOC121852973, LOC125371448, LOC125371449, LOC125371450, LOC125371451, LOC125371452, LOC125371453, LOC125371455, LOC126862838, LOC126862839, LOC128772422, LOC128772423, LOC128772424, LOC128900001, LSM7, MAP2K2, MATK, MBD3, MEX3D, MFSD12, MIR1227, MIR1909, MIR4321, MIR637, MIR6789, MIR7108, MIR7850, MKNK2, MOB3A, MRPL54, NCLN, NFIC, NMRK2, OAZ1, ONECUT3, PEAK3, PIAS4, PIP5K1C, PLEKHJ1, RAX2, REXO1, S1PR4, SCAMP4, SF3A2, SGTA, SHD, SIRT6, SLC39A3, SMIM24, SMIM44, SNORD37, SPPL2B, TBXA2R, TCF3, TEKTIP1, THOP1, TIMM13, TJP3, TLE2, TLE5, TLE6, TMPRSS9, UQCR11, YJU2, ZBTB7A, ZFR2, ZNF554, ZNF555, ZNF556, ZNF57, ZNF77 | | See cases | Pathogenic (Aug 30, 2010) | no assertion criteria provided |
| - GRCh37:
- Chr19:1565574-4108126
- GRCh38:
- Chr19:1565575-4108128
| CSNK1G2, CSNK1G2-AS1, LINC01775, LINGO3, LOC121627847, DAPK3, LMNB2, LOC121627848, LOC121852972, LOC112543443, LOC112543475, LOC112543476, LOC112543477, GADD45B, DOHH, DIRAS1, DOT1L, EEF2, FZR1, GIPC3, GNA11, LOC108348031, LOC108783649, LOC100288123, LOC106804547, LOC111556134, LOC111721712, LOC112543440, LOC112543441, AP3D1, ABHD17A, ADAT3, AMH, APBA3, ATCAY, ATP8B3, BTBD2, CACTIN, CACTIN-AS1, CELF5, GNA15, GNA15-DT, GNG7, HMG20B, IZUMO4, JSRP1, KLF16, LOC112543480, LOC112543481, LOC112543482, LOC113939970, LOC116276497, LOC116276498, LOC121627845, LOC121627846, LOC121852973, LOC125371449, LOC125371450, LOC125371451, LOC125371452, LOC125371453, LOC126862838, LOC126862839, LOC128772422, LOC128772423, LOC128772424, LOC128900001, LSM7, MAP2K2, MATK, MBD3, MEX3D, MFSD12, MIR1227, MIR1909, MIR4321, MIR637, MIR6789, MIR7108, MIR7850, MKNK2, MOB3A, MRPL54, NCLN, NFIC, NMRK2, OAZ1, ONECUT3, PEAK3, PIAS4, PIP5K1C, PLEKHJ1, RAX2, REXO1, S1PR4, SCAMP4, SF3A2, SGTA, SLC39A3, SMIM24, SMIM44, SNORD37, SPPL2B, TBXA2R, TCF3, TEKTIP1, THOP1, TIMM13, TJP3, TLE2, TLE5, TLE6, TMPRSS9, UQCR11, ZBTB7A, ZFR2, ZNF554, ZNF555, ZNF556, ZNF57, ZNF77 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr19:1972244-9759555
- GRCh38:
- Chr19:1972245-9648879
| ACER1, ACSBG2, ACTL9, ADAMTS10, ADGRE1, ALKBH7, AMH, ANGPTL4, ANKRD24, AP3D1, APBA3, ARHGEF18, ARRDC5, ATCAY, BTBD2, C3, CACTIN, CACTIN-AS1, CAMSAP3, CAPS, CATSPERD, CCL25, CD209, CD320, CD70, CELF5, CERS4, CHAF1A, CLEC4G, CLEC4M, CLPP, CRB3, CREB3L3, CSNK1G2, CTXN1, DAPK3, DENND1C, DIRAS1, DOHH, DOT1L, DPP9, DPP9-AS1, DUS3L, EBI3, EEF2, ELAVL1, EVI5L, FBN3, FCER2, FEM1A, FSD1, FUT3, FUT5, FUT6, FZR1, GADD45B, GIPC3, GNA11, GNA15, GNA15-DT, GNG7, GPR108, GTF2F1, HDGFL2, HMG20B, HNRNPM, HSD11B1L, INSR, IZUMO4, JSRP1, KANK3, KDM4B, KHSRP, LINC01775, LINGO3, LMNB2, LOC100128573, LOC101928844, LOC106804547, LOC108348031, LOC108783649, LOC111413022, LOC111556134, LOC111721712, LOC111828491, LOC111828492, LOC111828495, LOC112543475, LOC112543476, LOC112543477, LOC112543480, LOC112543481, LOC112543482, LOC112543490, LOC112552148, LOC112552174, LOC112552175, LOC112552176, LOC112577455, LOC112577456, LOC112577457, LOC112577458, LOC113939970, LOC113939971, LOC113939974, LOC113939976, LOC116276497, LOC116276498, LOC116276499, LOC116276500, LOC117282006, LOC117307477, LOC117307478, LOC121627846, LOC121627847, LOC121627848, LOC121627849, LOC121627850, LOC121627851, LOC121627852, LOC121627853, LOC121627854, LOC121627855, LOC121852972, LOC121852973, LOC121852974, LOC121852975, LOC121852976, LOC125371450, LOC125371451, LOC125371452, LOC125371453, LOC125371455, LOC125371457, LOC125371459, LOC125371460, LOC125371461, LOC125371462, LOC125371463, LOC125371464, LOC125371465, LOC125371466, LOC125371467, LOC125371468, LOC125371469, LOC125371470, LOC125371471, LOC125371472, LOC125371473, LOC126862839, LOC126862840, LOC126862841, LOC126862842, LOC126862843, LOC126862844, LOC126862845, LOC126862846, LOC126862847, LOC126862848, LOC126862849, LOC126862850, LOC128772422, LOC128772423, LOC128772424, LOC390877, LONP1, LRG1, LRRC8E, LSM7, MAP2K2, MAP2K7, MARCHF2, MATK, MBD3L1, MBD3L2, MBD3L2B, MBD3L3, MBD3L4, MBD3L5, MCEMP1, MCOLN1, MFSD12, MICOS13, MIR1227, MIR3940, MIR4321, MIR4746, MIR4747, MIR4999, MIR637, MIR6789, MIR6790, MIR6791, MIR6792, MIR6885, MIR7-3, MIR7-3HG, MIR7108, MIR7850, MKNK2, MLLT1, MOB3A, MPND, MRPL54, MUC16, MYDGF, MYO1F, NCLN, NDUFA11, NDUFA7, NFIC, NFILZ, NMRK2, NRTN, OAZ1, OR1M1, OR2Z1, OR7D2, OR7D4, OR7E24, OR7G1, OR7G2, OR7G3, PCP2, PEAK3, PET100, PEX11G, PIAS4, PIP5K1C, PLEKHJ1, PLIN3, PLIN4, PLIN5, PNPLA6, PRAM1, PRR22, PRR36, PSPN, PTPRS, RAB11B, RAB11B-AS1, RANBP3, RANBP3-DT, RAX2, RETN, RFX2, RPL36, RPS28, S1PR4, SAFB, SAFB2, SEMA6B, SF3A2, SGTA, SH2D3A, SH3GL1, SHD, SIRT6, SLC25A23, SLC25A41, SLC39A3, SMIM24, SMIM44, SNAPC2, SNORD37, SPPL2B, STAP2, STXBP2, TBXA2R, TEKTIP1, TEX45, TGFBR3L, THOP1, TICAM1, TIMM13, TIMM44, TINCR, TJP3, TLE2, TLE5, TLE6, TMIGD2, TMPRSS9, TNFAIP8L1, TNFSF14, TNFSF9, TRAPPC5, TRG-TCC1-1, TRIP10, TRV-CAC3-1, TUBB4A, UBXN6, UHRF1, VAV1, VMAC, XAB2, YJU2, ZBTB7A, ZFR2, ZNF121, ZNF177, ZNF266, ZNF317, ZNF358, ZNF414, ZNF426, ZNF426-DT, ZNF554, ZNF555, ZNF556, ZNF557, ZNF558, ZNF559, ZNF559-ZNF177, ZNF560, ZNF561, ZNF561-AS1, ZNF562, ZNF57, ZNF699, ZNF77, ZNRF4 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr19:3080619-4912634
- GRCh38:
- Chr19:3080621-4912622
| ANKRD24, APBA3, ARRDC5, ATCAY, CACTIN, CACTIN-AS1, CELF5, CHAF1A, CREB3L3, DAPK3, DOHH, DPP9, DPP9-AS1, EBI3, EEF2, FEM1A, FSD1, FZR1, GIPC3, GNA11, GNA15, GNA15-DT, HDGFL2, HMG20B, LOC111721712, LOC111828491, LOC111828492, LOC112543480, LOC112543481, LOC112543482, LOC112543490, LOC112552148, LOC113939970, LOC113939971, LOC116276499, LOC121627849, LOC121627850, LOC121627851, LOC121852972, LOC121852973, LOC121852974, LOC125371450, LOC125371451, LOC125371452, LOC125371453, LOC125371455, LOC125371457, LOC126862840, LOC126862841, LOC126862842, LOC126862843, LOC128772422, LOC128772423, LOC128772424, LRG1, MAP2K2, MATK, MFSD12, MIR4746, MIR637, MIR7-3, MIR7-3HG, MPND, MRPL54, MYDGF, NCLN, NFIC, NMRK2, PIAS4, PIP5K1C, PLIN3, PLIN4, PLIN5, RAX2, S1PR4, SEMA6B, SH3GL1, SHD, SIRT6, SMIM24, SMIM44, SNORD37, STAP2, TBXA2R, TEKTIP1, TICAM1, TJP3, TMIGD2, TNFAIP8L1, TRG-TCC1-1, TRV-CAC3-1, UBXN6, UHRF1, YJU2, ZBTB7A, ZFR2 | | See cases | Likely pathogenic (Dec 16, 2011) | no assertion criteria provided |
| - GRCh37:
- Chr19:3338022-4833151
- GRCh38:
- Chr19:3338024-4833139
| ANKRD24, APBA3, ATCAY, CACTIN, CACTIN-AS1, CHAF1A, CREB3L3, DAPK3, DOHH, DPP9, DPP9-AS1, EBI3, EEF2, FEM1A, FSD1, FZR1, GIPC3, HDGFL2, HMG20B, LOC111721712, LOC111828491, LOC111828492, LOC112543481, LOC112543482, LOC112543490, LOC112552148, LOC113939970, LOC113939971, LOC121627849, LOC121627850, LOC121627851, LOC121852972, LOC121852973, LOC121852974, LOC125371451, LOC125371452, LOC125371453, LOC125371455, LOC125371457, LOC126862840, LOC126862841, LOC126862842, LOC126862843, LOC128772422, LOC128772423, LOC128772424, LRG1, MAP2K2, MATK, MFSD12, MIR4746, MIR637, MIR7-3, MIR7-3HG, MPND, MRPL54, MYDGF, NFIC, NMRK2, PIAS4, PIP5K1C, PLIN4, PLIN5, RAX2, SEMA6B, SH3GL1, SHD, SIRT6, SMIM24, SMIM44, SNORD37, STAP2, TBXA2R, TEKTIP1, TICAM1, TJP3, TMIGD2, TNFAIP8L1, TRG-TCC1-1, TRV-CAC3-1, UBXN6, YJU2, ZBTB7A, ZFR2 | | See cases | Pathogenic (Nov 30, 2010) | no assertion criteria provided |
| - GRCh37:
- Chr19:3554633-4690977
- GRCh38:
- Chr19:3554635-4690965
| ANKRD24, APBA3, ATCAY, CACTIN, CACTIN-AS1, CHAF1A, CREB3L3, DAPK3, DPP9, DPP9-AS1, EBI3, EEF2, FSD1, GIPC3, HDGFL2, HMG20B, LOC111828491, LOC111828492, LOC112543481, LOC112543482, LOC112543490, LOC113939970, LOC121627849, LOC121627850, LOC121627851, LOC121852972, LOC121852973, LOC121852974, LOC125371453, LOC125371455, LOC125371457, LRG1, MAP2K2, MATK, MFSD12, MIR4746, MIR637, MPND, MRPL54, MYDGF, NMRK2, PIAS4, PIP5K1C, PLIN4, PLIN5, RAX2, SEMA6B, SH3GL1, SHD, SIRT6, SNORD37, STAP2, TBXA2R, TJP3, TMIGD2, TNFAIP8L1, UBXN6, YJU2, ZBTB7A, ZFR2 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr19:3788725-5147365
- GRCh38:
- Chr19:3788727-5147354
| ANKRD24, ARRDC5, ATCAY, CHAF1A, CREB3L3, DAPK3, DPP9, DPP9-AS1, EBI3, EEF2, FEM1A, FSD1, HDGFL2, KDM4B, LOC111828491, LOC111828492, LOC112543490, LOC112552148, LOC113939970, LOC113939971, LOC116276499, LOC121627849, LOC121627850, LOC121627851, LOC121627852, LOC121852974, LOC125371453, LOC125371455, LOC125371457, LOC125371459, LOC125371460, LOC126862840, LOC126862841, LOC126862842, LOC126862843, LRG1, MAP2K2, MATK, MIR4746, MIR4747, MIR637, MIR7-3, MIR7-3HG, MPND, MYDGF, NMRK2, PIAS4, PLIN3, PLIN4, PLIN5, SEMA6B, SH3GL1, SHD, SIRT6, SNORD37, STAP2, TICAM1, TMIGD2, TNFAIP8L1, TRG-TCC1-1, TRV-CAC3-1, UBXN6, UHRF1, YJU2, ZBTB7A, ZFR2 | | See cases | Likely pathogenic (Sep 23, 2013) | no assertion criteria provided |
| - GRCh37:
- Chr19:3947932-5196687
- GRCh38:
- Chr19:3947934-5196676
| ANKRD24, ARRDC5, CHAF1A, CREB3L3, DAPK3, DPP9, DPP9-AS1, EBI3, EEF2, FEM1A, FSD1, HDGFL2, KDM4B, LOC111828491, LOC111828492, LOC112543490, LOC112552148, LOC113939971, LOC116276499, LOC121627849, LOC121627850, LOC121627851, LOC121627852, LOC121852974, LOC125371455, LOC125371457, LOC125371459, LOC125371460, LOC126862840, LOC126862841, LOC126862842, LOC126862843, LOC126862844, LRG1, MAP2K2, MIR4746, MIR4747, MIR637, MIR7-3, MIR7-3HG, MPND, MYDGF, PIAS4, PLIN3, PLIN4, PLIN5, SEMA6B, SH3GL1, SHD, SIRT6, SNORD37, STAP2, TICAM1, TMIGD2, TNFAIP8L1, TRG-TCC1-1, TRV-CAC3-1, UBXN6, UHRF1, YJU2, ZBTB7A | | See cases | Uncertain significance (Aug 19, 2010) | no assertion criteria provided |
| - GRCh37:
- Chr19:4008558-4763171
- GRCh38:
- Chr19:4008560-4763159
| LOC125371455, LOC125371457, LOC126862840, LOC126862841, LOC126862842, LRG1, MAP2K2, MIR4746, MPND, MYDGF, PIAS4, PLIN4, PLIN5, SEMA6B, SH3GL1, SHD, SIRT6, STAP2, TMIGD2, TNFAIP8L1, TRG-TCC1-1, TRV-CAC3-1, UBXN6, YJU2, ZBTB7A, ANKRD24, CHAF1A, CREB3L3, DPP9, DPP9-AS1, EBI3, FSD1, HDGFL2, LOC111828491, LOC111828492, LOC112543490, LOC112552148, LOC121627849, LOC121627850, LOC121627851, LOC121852974 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr19:4090422
- GRCh38:
- Chr19:4090424
| MAP2K2 | | not provided | Benign (Mar 3, 2015) | criteria provided, single submitter |
| - GRCh37:
- Chr19:4090572
- GRCh38:
- Chr19:4090574
| MAP2K2 | | not provided | Benign (Mar 6, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr19:4090572
- GRCh38:
- Chr19:4090574
| MAP2K2 | | not provided, not specified | Benign (Mar 3, 2015) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:4090576
- GRCh38:
- Chr19:4090578
| MAP2K2 | | not provided, not specified | Benign/Likely benign (Jul 4, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:4090577
- GRCh38:
- Chr19:4090579
| MAP2K2 | | not specified | Benign (Nov 25, 2019) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:4090582
- GRCh38:
- Chr19:4090584
| MAP2K2 | | not specified | Likely benign (Apr 10, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr19:4090587
- GRCh38:
- Chr19:4090589
| MAP2K2 | | not specified | Likely benign (Jul 13, 2012) | criteria provided, single submitter |
| - GRCh37:
- Chr19:4090588
- GRCh38:
- Chr19:4090590
| MAP2K2 | | RASopathy | Likely benign (May 9, 2017) | reviewed by expert panel FDA Recognized Database |
| - GRCh37:
- Chr19:4090594
- GRCh38:
- Chr19:4090596
| MAP2K2 | | not specified | Likely benign (Jan 28, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr19:4090601
- GRCh38:
- Chr19:4090603
| MAP2K2 | V400M | Noonan syndrome and Noonan-related syndrome, not specified, not provided, RASopathy | Benign/Likely benign (Oct 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:4090602
- GRCh38:
- Chr19:4090604
| MAP2K2 | | Cardiovascular phenotype, not specified, not provided, RASopathy | Likely benign (Aug 5, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:4090603
- GRCh38:
- Chr19:4090605
| MAP2K2 | A399V | RASopathy | Uncertain significance (Jan 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:4090604
- GRCh38:
- Chr19:4090606
| MAP2K2 | A399T | not specified, RASopathy | Uncertain significance (Aug 8, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:4090605
- GRCh38:
- Chr19:4090607
| MAP2K2 | | RASopathy | Benign (May 9, 2017) | reviewed by expert panel FDA Recognized Database |
| - GRCh37:
- Chr19:4090607
- GRCh38:
- Chr19:4090609
| MAP2K2 | T398P | not provided | Uncertain significance (Apr 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:4090608
- GRCh38:
- Chr19:4090610
| MAP2K2 | | not specified, Cardiovascular phenotype, RASopathy, not provided | Likely benign (Oct 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:4090609
- GRCh38:
- Chr19:4090611
| MAP2K2 | R397H | RASopathy | Uncertain significance (Sep 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:4090610
- GRCh38:
- Chr19:4090612
| MAP2K2 | R397C | not provided, RASopathy | Uncertain significance (Sep 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:4090611
- GRCh38:
- Chr19:4090613
| MAP2K2 | | RASopathy | Likely benign (Oct 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:4090612
- GRCh38:
- Chr19:4090614
| MAP2K2 | T396M | RASopathy | Uncertain significance (Dec 5, 2019) | reviewed by expert panel FDA Recognized Database |
| - GRCh37:
- Chr19:4090614
- GRCh38:
- Chr19:4090616
| MAP2K2 | T396fs | RASopathy | Uncertain significance (Jul 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:4090615
- GRCh38:
- Chr19:4090617
| MAP2K2 | P395R | RASopathy | Uncertain significance (Aug 26, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:4090617
- GRCh38:
- Chr19:4090619
| MAP2K2 | | Cardiovascular phenotype, not provided, RASopathy, not specified | Likely benign (Apr 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:4090619
- GRCh38:
- Chr19:4090621
| MAP2K2 | T394S | not provided | Uncertain significance (Sep 10, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr19:4090622
- GRCh38:
- Chr19:4090624
| MAP2K2 | G393S | not specified, RASopathy | Uncertain significance (Aug 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:4090623
- GRCh38:
- Chr19:4090625
| MAP2K2 | | not specified, Noonan syndrome and Noonan-related syndrome, not provided, RASopathy | Conflicting interpretations of pathogenicity (Oct 19, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:4090629
- GRCh38:
- Chr19:4090631
| MAP2K2 | N390K | RASopathy | Uncertain significance (Feb 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:4090632
- GRCh38:
- Chr19:4090634
| MAP2K2 | | Cardiovascular phenotype, not specified | Likely benign (Jul 1, 2019) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:4090634
- GRCh38:
- Chr19:4090636
| MAP2K2 | | RASopathy | Likely benign (Dec 20, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:4090636
- GRCh38:
- Chr19:4090638
| MAP2K2 | R388Q | RASopathy | Uncertain significance (Jul 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:4090637
- GRCh38:
- Chr19:4090639
| MAP2K2 | | Cardiovascular phenotype | Likely benign (Oct 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:4090637
- GRCh38:
- Chr19:4090639
| MAP2K2 | R388W | RASopathy | Benign (May 9, 2017) | reviewed by expert panel FDA Recognized Database |
| - GRCh37:
- Chr19:4090640
- GRCh38:
- Chr19:4090642
| MAP2K2 | | RASopathy | Likely benign (Feb 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:4090642
- GRCh38:
- Chr19:4090644
| MAP2K2 | T386I | RASopathy | Uncertain significance (Sep 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:4090648
- GRCh38:
- Chr19:4090650
| MAP2K2 | C384Y | not provided | Uncertain significance (Mar 15, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr19:4090658
- GRCh38:
- Chr19:4090660
| MAP2K2 | G381S | RASopathy | Uncertain significance (Aug 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:4090659
- GRCh38:
- Chr19:4090661
| MAP2K2 | | RASopathy | Likely benign (May 9, 2017) | reviewed by expert panel FDA Recognized Database |
| - GRCh37:
- Chr19:4090661
- GRCh38:
- Chr19:4090663
| MAP2K2 | A380T | RASopathy | Uncertain significance (Mar 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:4090682
- GRCh38:
- Chr19:4090684
| MAP2K2 | E373Q | RASopathy | Uncertain significance (Jun 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:4090682
- GRCh38:
- Chr19:4090684
| MAP2K2 | E373K | Cardiovascular phenotype | Uncertain significance (Mar 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:4090683
- GRCh38:
- Chr19:4090685
| MAP2K2 | | Cardiovascular phenotype | Likely benign (Mar 10, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:4090683
- GRCh38:
- Chr19:4090685
| MAP2K2 | | RASopathy | Likely benign (Apr 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:4090687
- GRCh38:
- Chr19:4090689
| MAP2K2 | R371L | RASopathy | Uncertain significance (Feb 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:4090687
- GRCh38:
- Chr19:4090689
| MAP2K2 | R371Q | RASopathy | Uncertain significance (Aug 26, 2019) | reviewed by expert panel FDA Recognized Database |
| - GRCh37:
- Chr19:4090688
- GRCh38:
- Chr19:4090690
| MAP2K2 | R371W | Inborn genetic diseases, RASopathy, not provided
| Uncertain significance (Oct 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:4090690
- GRCh38:
- Chr19:4090692
| MAP2K2 | K370M | RASopathy | Uncertain significance (Nov 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:4090690
- GRCh38:
- Chr19:4090692
| MAP2K2 | K370R | Noonan syndrome | Uncertain significance | no assertion criteria provided |
| - GRCh37:
- Chr19:4090693
- GRCh38:
- Chr19:4090695
| MAP2K2 | I369T | Noonan syndrome and Noonan-related syndrome | Uncertain significance (Oct 2, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr19:4090698
- GRCh38:
- Chr19:4090700
| MAP2K2 | | RASopathy | Likely benign (Nov 25, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr19:4090699
- GRCh38:
- Chr19:4090701
| MAP2K2 | T367N | RASopathy | Uncertain significance (Aug 28, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:4090712
- GRCh38:
- Chr19:4090714
| MAP2K2 | | RASopathy | Benign (May 9, 2017) | reviewed by expert panel FDA Recognized Database |
| - GRCh37:
- Chr19:4090717-4090720
- GRCh38:
- Chr19:4090719-4090722
| MAP2K2 | | RASopathy | Likely benign (Aug 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:4090722
- GRCh38:
- Chr19:4090724
| MAP2K2 | | RASopathy | Likely benign (Aug 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:4090725
- GRCh38:
- Chr19:4090727
| MAP2K2 | | RASopathy | Likely benign (Nov 27, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:4090725
- GRCh38:
- Chr19:4090727
| MAP2K2 | | RASopathy | Likely benign (Aug 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:4090834
- GRCh38:
- Chr19:4090836
| MAP2K2 | | not provided | Likely benign (Jun 26, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:4090979
- GRCh38:
- Chr19:4090981
| MAP2K2 | | not provided | Likely benign (Jun 19, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:4094110
- GRCh38:
- Chr19:4094112
| MAP2K2 | | RASopathy | Benign (Oct 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:4094324
- GRCh38:
- Chr19:4094326
| MAP2K2 | | not provided | Likely benign (Aug 14, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:4094435
- GRCh38:
- Chr19:4094437
| MAP2K2 | | RASopathy | Likely benign (Sep 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:4094436
- GRCh38:
- Chr19:4094438
| MAP2K2 | | RASopathy | Likely benign (Sep 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:4094437
- GRCh38:
- Chr19:4094439
| MAP2K2 | | RASopathy | Likely benign (Jul 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:4094451
- GRCh38:
- Chr19:4094453
| MAP2K2 | | RASopathy, Noonan syndrome and Noonan-related syndrome, not specified
| Uncertain significance (May 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:4094451
- GRCh38:
- Chr19:4094453
| MAP2K2 | | not specified | Likely benign (Apr 8, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:4094454
- GRCh38:
- Chr19:4094456
| MAP2K2 | | Cardiovascular phenotype | Likely benign (Feb 14, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:4094456
- GRCh38:
- Chr19:4094458
| MAP2K2 | L363F | RASopathy | Uncertain significance (Sep 15, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:4094458
- GRCh38:
- Chr19:4094460
| MAP2K2 | M362T | not provided, RASopathy | Likely benign (Oct 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:4094463
- GRCh38:
- Chr19:4094465
| MAP2K2 | | not specified | Likely benign (Jan 31, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr19:4094469
- GRCh38:
- Chr19:4094471
| MAP2K2 | | RASopathy, Cardiovascular phenotype | Likely benign (Mar 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:4094469
- GRCh38:
- Chr19:4094471
| MAP2K2 | | RASopathy | Benign (May 9, 2017) | reviewed by expert panel FDA Recognized Database |
| - GRCh37:
- Chr19:4094470
- GRCh38:
- Chr19:4094472
| MAP2K2 | A358V | RASopathy | Uncertain significance (Oct 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:4094478
- GRCh38:
- Chr19:4094480
| MAP2K2 | | Cardiovascular phenotype, not specified, not provided, RASopathy | Benign/Likely benign (Oct 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:4094479
- GRCh38:
- Chr19:4094481
| MAP2K2 | A355V | Cardiovascular phenotype, not provided, not specified
| Uncertain significance (Jun 23, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:4094482
- GRCh38:
- Chr19:4094484
| MAP2K2 | P354L | not provided, not specified | Uncertain significance (Feb 8, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:4094490
- GRCh38:
- Chr19:4094492
| MAP2K2 | | RASopathy | Likely benign (Sep 19, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:4094492
- GRCh38:
- Chr19:4094494
| MAP2K2 | I351L | RASopathy | Uncertain significance (Jun 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:4094497-4094498
- GRCh38:
- Chr19:4094499-4094500
| MAP2K2 | | not provided | Likely benign (Aug 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:4094499
- GRCh38:
- Chr19:4094501
| MAP2K2 | | not specified | Uncertain significance (Oct 27, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr19:4094502
- GRCh38:
- Chr19:4094504
| MAP2K2 | | not specified | Uncertain significance (Nov 9, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr19:4094527
- GRCh38:
- Chr19:4094529
| MAP2K2 | | not provided | Likely benign (Jul 11, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:4094635-4094636
- GRCh38:
- Chr19:4094637-4094638
| MAP2K2 | | not provided | Benign (Jun 14, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:4094708
- GRCh38:
- Chr19:4094710
| MAP2K2 | | not provided | Likely benign (Jun 20, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:4094775
- GRCh38:
- Chr19:4094777
| MAP2K2 | | not provided | Benign (Jun 18, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:4094887
- GRCh38:
- Chr19:4094889
| MAP2K2 | | not provided | Benign (Aug 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:4095083
- GRCh38:
- Chr19:4095085
| MAP2K2 | | not provided | Likely benign (Jun 14, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:4095186
- GRCh38:
- Chr19:4095188
| MAP2K2 | | not provided | Likely benign (Jun 16, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:4095294-4095295
- GRCh38:
- Chr19:4095296-4095297
| MAP2K2 | | not provided | Likely benign (Jun 16, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:4095370
- GRCh38:
- Chr19:4095372
| MAP2K2 | | not specified, RASopathy | Likely benign (Aug 31, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:4095373
- GRCh38:
- Chr19:4095375
| MAP2K2 | | not specified, RASopathy | Benign/Likely benign (Sep 27, 2022) | criteria provided, multiple submitters, no conflicts |