| - GRCh37:
- Chr20:60747-13010049
- GRCh38:
- Chr20:80106-13029401
| ADAM33, ADISSP, ADRA1D, ANGPT4, ANKEF1, AP5S1, ATRN, AVP, BMP2, BTBD3, C20orf141, C20orf202, C20orf96, CASC20, CDC25B, CDS2, CENPB, CHGB, CPXM1, CRLS1, CSNK2A1, DDRGK1, DEFB125, DEFB126, DEFB127, DEFB128, DEFB129, DEFB132, DNAAF9, EBF4, FAM110A, FASTKD5, FERMT1, FKBP1A, FKBP1A-SDCBP2, GFRA4, GNRH2, GPCPD1, HAO1, HSPA12B, IDH3B, ITPA, JAG1, LAMP5, LAMP5-AS1, LINC00654, LINC00658, LINC00687, LINC01428, LINC01433, LINC01706, LINC01713, LINC01722, LINC01723, LINC01729, LINC01730, LINC01751, LINC01752, LINC02871, LINC03086, LOC101929413, LOC102606466, LOC105372493, LOC106799846, LOC107457602, LOC108178991, LOC108178992, LOC109363676, LOC109504727, LOC110120914, LOC110121338, LOC111240478, LOC111240479, LOC111365169, LOC111365189, LOC112694687, LOC112694688, LOC112694697, LOC112694698, LOC112694699, LOC112694712, LOC112694713, LOC112694729, LOC112694730, LOC112694731, LOC113939990, LOC113939991, LOC114004355, LOC116286198, LOC116286199, LOC116286200, LOC116286201, LOC116286202, LOC116286203, LOC121627890, LOC121627891, LOC121627892, LOC121627893, LOC121852995, LOC121852996, LOC121852997, LOC121852998, LOC125384555, LOC125384556, LOC125384557, LOC125384558, LOC125384559, LOC125384560, LOC125384561, LOC125384562, LOC125384563, LOC125384564, LOC125384565, LOC125384566, LOC125384567, LOC125384568, LOC125384569, LOC125384570, LOC125384571, LOC125384572, LOC125384573, LOC125384574, LOC125384575, LOC125384576, LOC125384577, LOC125384578, LOC125384579, LOC125384580, LOC125384581, LOC125384582, LOC125384583, LOC126862948, LOC126862949, LOC126862950, LOC126862951, LOC126862952, LOC126862953, LOC126862954, LOC126862955, LOC126862956, LOC126862957, LOC126862958, LOC126862959, LOC126862960, LOC126862961, LOC126862962, LOC126862963, LOC126862964, LOC126862965, LOC126862966, LOC126862967, LOC126862968, LOC126862969, LOC126862970, LOC126862971, LOC126862972, LOC126862973, LOC126862974, LOC126862975, LOC126862976, LOC126862977, LOC126862978, LOC128706665, LOC128706666, LOC339593, LOC643406, LRRN4, LZTS3, MAVS, MCM8, MCM8-AS1, MIR103A2, MIR103B2, MIR1292, MIR6869, MIR6870, MIR8062, MKKS, MRPS26, NOP56, NRSN2, NRSN2-AS1, NSFL1C, OXT, PAK5, PANK2, PARAL1, PCED1A, PCNA, PCNA-AS1, PDYN, PDYN-AS1, PLCB1, PLCB1-IT1, PLCB4, PRND, PRNP, PRNT, PROKR2, PSMF1, PTPRA, RAD21L1, RASSF2, RBCK1, RNF24, RNU105B, RSPO4, SCRT2, SDCBP2, SDCBP2-AS1, SHLD1, SIGLEC1, SIRPA, SIRPB1, SIRPB2, SIRPD, SIRPG, SIRPG-AS1, SLC23A2, SLC4A11, SLC52A3, SLX4IP, SMOX, SNAP25, SNAP25-AS1, SNORA51, SNORD110, SNORD119, SNORD56, SNORD57, SNORD86, SNPH, SNRPB, SOX12, SPEF1, SPTLC3, SRXN1, STK35, TBC1D20, TCF15, TGM3, TGM6, TMC2, TMEM230, TMEM239, TMEM74B, TMX4, TMX4-AS1, TRIB3, TRMT6, UBOX5, UBOX5-AS1, VPS16, ZCCHC3, ZNF343 | | See cases | Pathogenic (May 7, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr20:60747-29462103
- GRCh38:
- Chr20:80106-30227427
| ABHD12, ACSS1, ADAM33, ADISSP, ADRA1D, ANGPT4, ANKEF1, AP5S1, APMAP, ATRN, AVP, BANF2, BFSP1, BMP2, BTBD3, C20orf141, C20orf202, C20orf96, CASC20, CD93, CDC25B, CDS2, CENPB, CFAP61, CFAP61-AS1, CHGB, CPXM1, CRLS1, CRNKL1, CSNK2A1, CST1, CST11, CST2, CST3, CST4, CST5, CST7, CST8, CST9, CST9L, CSTL1, DDRGK1, DEFB125, DEFB126, DEFB127, DEFB128, DEFB129, DEFB132, DNAAF9, DSTN, DTD1, DTD1-AS1, DZANK1, EBF4, ENTPD6, ESF1, FAM110A, FAM182A, FAM182B, FAM242B, FASTKD5, FERMT1, FKBP1A, FKBP1A-SDCBP2, FLRT3, FOXA2, GFRA4, GGTLC1, GINS1, GNRH2, GPCPD1, GZF1, HAO1, HSPA12B, IDH3B, INSM1, ISM1, ISM1-AS1, ITPA, JAG1, KAT14, KIF16B, KIZ, KIZ-AS1, LAMP5, LAMP5-AS1, LCDR, LINC00237, LINC00261, LINC00652, LINC00654, LINC00656, LINC00658, LINC00687, LINC00851, LINC01427, LINC01428, LINC01431, LINC01432, LINC01433, LINC01706, LINC01713, LINC01721, LINC01722, LINC01723, LINC01726, LINC01727, LINC01729, LINC01730, LINC01733, LINC01747, LINC01751, LINC01752, LINC02871, LINC03086, LNCNEF, LOC100134868, LOC101926889, LOC101926935, LOC101929413, LOC102606466, LOC105372493, LOC105372576, LOC105372582, LOC105379477, LOC106799846, LOC107457602, LOC107987276, LOC108178991, LOC108178992, LOC108228200, LOC108228202, LOC109363676, LOC109504727, LOC110120914, LOC110120921, LOC110120949, LOC110121332, LOC110121338, LOC111240478, LOC111240479, LOC111365169, LOC111365189, LOC111465001, LOC112268271, LOC112694687, LOC112694688, LOC112694689, LOC112694690, LOC112694691, LOC112694692, LOC112694693, LOC112694694, LOC112694695, LOC112694696, LOC112694697, LOC112694698, LOC112694699, LOC112694712, LOC112694713, LOC112694729, LOC112694730, LOC112694731, LOC113939990, LOC113939991, LOC113939992, LOC114004355, LOC114827862, LOC116286198, LOC116286199, LOC116286200, LOC116286201, LOC116286202, LOC116286203, LOC121627890, LOC121627891, LOC121627892, LOC121627893, LOC121627894, LOC121627895, LOC121627896, LOC121627897, LOC121627898, LOC121627899, LOC121627900, LOC121627901, LOC121852995, LOC121852996, LOC121852997, LOC121852998, LOC121852999, LOC121853000, LOC121853001, LOC125384555, LOC125384556, LOC125384557, LOC125384558, LOC125384559, LOC125384560, LOC125384561, LOC125384562, LOC125384563, LOC125384564, LOC125384565, LOC125384566, LOC125384567, LOC125384568, LOC125384569, LOC125384570, LOC125384571, LOC125384572, LOC125384573, LOC125384574, LOC125384575, LOC125384576, LOC125384577, LOC125384578, LOC125384579, LOC125384580, LOC125384581, LOC125384582, LOC125384583, LOC125384584, LOC125384585, LOC125384586, LOC125384587, LOC125384588, LOC125384589, LOC125384590, LOC125384592, LOC125384593, LOC125384594, LOC125387241, LOC125387242, LOC125387243, LOC125387244, LOC125387245, LOC125387246, LOC125387247, LOC126862948, LOC126862949, LOC126862950, LOC126862951, LOC126862952, LOC126862953, LOC126862954, LOC126862955, LOC126862956, LOC126862957, LOC126862958, LOC126862959, LOC126862960, LOC126862961, LOC126862962, LOC126862963, LOC126862964, LOC126862965, LOC126862966, LOC126862967, LOC126862968, LOC126862969, LOC126862970, LOC126862971, LOC126862972, LOC126862973, LOC126862974, LOC126862975, LOC126862976, LOC126862977, LOC126862978, LOC126862979, LOC126862980, LOC126862981, LOC126862982, LOC126862983, LOC126862984, LOC126862985, LOC126862986, LOC126862987, LOC126862988, LOC126862989, LOC126862990, LOC126862991, LOC126862992, LOC126862993, LOC126862994, LOC126862995, LOC126862996, LOC126862997, LOC126862998, LOC126862999, LOC126863000, LOC126863001, LOC126863002, LOC126863003, LOC126863004, LOC126863005, LOC126863006, LOC126863007, LOC126863008, LOC126863009, LOC128706665, LOC128706666, LOC284788, LOC284798, LOC339593, LOC613266, LOC643406, LRRN4, LZTS3, MACROD2, MACROD2-AS1, MACROD2-IT1, MAVS, MCM8, MCM8-AS1, MGME1, MIR103A2, MIR103B2, MIR1292, MIR3192, MIR663A, MIR663AHG, MIR6869, MIR6870, MIR8062, MKKS, MRPS26, NAA20, NANP, NAPB, NDUFAF5, NINL, NKX2-2, NKX2-4, NOP56, NRSN2, NRSN2-AS1, NSFL1C, NXT1, OTOR, OVOL2, OXT, PAK5, PANK2, PARAL1, PAX1, PCED1A, PCNA, PCNA-AS1, PCSK2, PDYN, PDYN-AS1, PET117, PLCB1, PLCB1-IT1, PLCB4, POLR3F, PRND, PRNP, PRNT, PROKR2, PSMF1, PTPRA, PYGB, RAD21L1, RALGAPA2, RASSF2, RBBP9, RBCK1, RIN2, RNF24, RNU105B, RRBP1, RSPO4, SCP2D1, SCP2D1-AS1, SCRT2, SDCBP2, SDCBP2-AS1, SEC23B, SEL1L2, SHLD1, SIGLEC1, SIRPA, SIRPB1, SIRPB2, SIRPD, SIRPG, SIRPG-AS1, SLC23A2, SLC24A3, SLC24A3-AS1, SLC4A11, SLC52A3, SLX4IP, SMIM26, SMOX, SNAP25, SNAP25-AS1, SNORA51, SNORD110, SNORD119, SNORD17, SNORD56, SNORD57, SNORD86, SNPH, SNRPB, SNRPB2, SNX5, SOX12, SPEF1, SPTLC3, SRXN1, SSTR4, STK35, SYNDIG1, TASP1, TBC1D20, TCF15, TGM3, TGM6, THBD, TMC2, TMEM230, TMEM239, TMEM74B, TMX4, TMX4-AS1, TRIB3, TRMT6, UBOX5, UBOX5-AS1, VPS16, VSX1, XRN2, ZCCHC3, ZNF133, ZNF133-AS1, ZNF337, ZNF337-AS1, ZNF343 | | See cases | Pathogenic (Apr 30, 2010) | no assertion criteria provided |
| - GRCh37:
- Chr20:61568-26305479
- GRCh38:
- Chr20:80927-26324843
| LINC01727, LINC01729, LINC01730, LINC01733, LINC01747, LINC01751, LINC01752, LINC02871, LINC03086, LNCNEF, LOC100134868, LOC101926889, LOC101926935, LOC101929413, LOC102606466, LOC105372493, LOC105372576, LOC105372582, LOC106799846, LOC107457602, LOC107987276, LOC108178991, LOC108178992, LOC108228200, LOC108228202, LOC109363676, LOC109504727, LOC110120914, LOC110120921, LOC110120949, LOC110121332, LOC110121338, LOC111240478, LOC111240479, LOC111365169, LOC111365189, LOC111465001, LOC112268271, LOC112694687, LOC112694688, LOC112694689, LOC112694690, LOC112694691, LOC112694692, LOC112694693, LOC112694694, LOC112694695, LOC112694696, LOC112694697, LOC112694698, LOC112694699, LOC112694712, LOC112694713, LOC112694729, LOC112694730, LOC112694731, LOC113939990, LOC113939991, LOC113939992, LOC114004355, LOC114827862, LOC116286198, LOC116286199, LOC116286200, LOC116286201, LOC116286202, LOC116286203, LOC121627890, LOC121627891, LOC121627892, LOC121627893, LOC121627894, LOC121627895, LOC121627896, LOC121627897, LOC121627898, LOC121627899, LOC121627900, LOC121627901, LOC121852995, LOC121852996, LOC121852997, LOC121852998, LOC121852999, LOC121853000, LOC121853001, LOC125384555, LOC125384556, LOC125384557, LOC125384558, LOC125384559, LOC125384560, LOC125384561, LOC125384562, LOC125384563, LOC125384564, LOC125384565, LOC125384566, LOC125384567, LOC125384568, LOC125384569, LOC125384570, LOC125384571, LOC125384572, LOC125384573, LOC125384574, LOC125384575, LOC125384576, LOC125384577, LOC125384578, LOC125384579, LOC125384580, LOC125384581, LOC125384582, LOC125384583, LOC125384584, LOC125384585, LOC125384586, LOC125384587, LOC125384588, LOC125384589, LOC125384590, LOC125384592, LOC125384593, LOC125384594, LOC125387241, LOC125387242, LOC125387243, LOC125387244, LOC125387245, LOC125387246, LOC125387247, LOC126862948, LOC126862949, LOC126862950, LOC126862951, LOC126862952, LOC126862953, LOC126862954, LOC126862955, LOC126862956, LOC126862957, LOC126862958, LOC126862959, LOC126862960, LOC126862961, LOC126862962, LOC126862963, LOC126862964, LOC126862965, LOC126862966, LOC126862967, LOC126862968, LOC126862969, LOC126862970, LOC126862971, LOC126862972, LOC126862973, LOC126862974, LOC126862975, LOC126862976, LOC126862977, LOC126862978, LOC126862979, LOC126862980, LOC126862981, LOC126862982, LOC126862983, LOC126862984, LOC126862985, LOC126862986, LOC126862987, LOC126862988, LOC126862989, LOC126862990, LOC126862991, LOC126862992, LOC126862993, LOC126862994, LOC126862995, LOC126862996, LOC126862997, LOC126862998, LOC126862999, LOC126863000, LOC126863001, LOC126863002, LOC126863003, LOC126863004, LOC126863005, LOC126863006, LOC126863007, LOC126863008, LOC126863009, LOC128706665, LOC128706666, LOC284788, LOC284798, LOC339593, LOC613266, LOC643406, LRRN4, LZTS3, MACROD2, MACROD2-AS1, MACROD2-IT1, MAVS, MCM8, MCM8-AS1, MGME1, MIR103A2, MIR103B2, MIR1292, MIR3192, MIR663A, MIR663AHG, MIR6869, MIR6870, MIR8062, MKKS, MRPS26, NAA20, NANP, NAPB, NDUFAF5, NINL, NKX2-2, NKX2-4, NOP56, NRSN2, NRSN2-AS1, NSFL1C, NXT1, OTOR, OVOL2, OXT, PAK5, PANK2, PARAL1, PAX1, PCED1A, PCNA, PCNA-AS1, PCSK2, PDYN, PDYN-AS1, PET117, PLCB1, PLCB1-IT1, PLCB4, POLR3F, PRND, PRNP, PRNT, PROKR2, PSMF1, PTPRA, PYGB, RAD21L1, RALGAPA2, RASSF2, RBBP9, RBCK1, RIN2, RNF24, RNU105B, RRBP1, RSPO4, SCP2D1, SCP2D1-AS1, SCRT2, SDCBP2, SDCBP2-AS1, SEC23B, SEL1L2, SHLD1, SIGLEC1, SIRPA, SIRPB1, SIRPB2, SIRPD, SIRPG, SIRPG-AS1, SLC23A2, SLC24A3, SLC24A3-AS1, SLC4A11, SLC52A3, SLX4IP, SMIM26, SMOX, SNAP25, SNAP25-AS1, SNORA51, SNORD110, SNORD119, SNORD17, SNORD56, SNORD57, SNORD86, SNPH, SNRPB, SNRPB2, SNX5, SOX12, SPEF1, SPTLC3, SRXN1, SSTR4, STK35, SYNDIG1, TASP1, TBC1D20, TCF15, TGM3, TGM6, THBD, TMC2, TMEM230, TMEM239, TMEM74B, TMX4, TMX4-AS1, TRIB3, TRMT6, UBOX5, UBOX5-AS1, VPS16, VSX1, XRN2, ZCCHC3, ZNF133, ZNF133-AS1, ZNF337, ZNF337-AS1, ZNF343, ABHD12, ACSS1, ADAM33, ADISSP, ADRA1D, ANGPT4, ANKEF1, AP5S1, APMAP, ATRN, AVP, BANF2, BFSP1, BMP2, BTBD3, C20orf141, C20orf202, C20orf96, CASC20, CD93, CDC25B, CDS2, CENPB, CFAP61, CFAP61-AS1, CHGB, CPXM1, CRLS1, CRNKL1, CSNK2A1, CST1, CST11, CST2, CST3, CST4, CST5, CST7, CST8, CST9, CST9L, CSTL1, DDRGK1, DEFB125, DEFB126, DEFB127, DEFB128, DEFB129, DEFB132, DNAAF9, DSTN, DTD1, DTD1-AS1, DZANK1, EBF4, ENTPD6, ESF1, FAM110A, FAM182A, FAM182B, FASTKD5, FERMT1, FKBP1A, FKBP1A-SDCBP2, FLRT3, FOXA2, GFRA4, GGTLC1, GINS1, GNRH2, GPCPD1, GZF1, HAO1, HSPA12B, IDH3B, INSM1, ISM1, ISM1-AS1, ITPA, JAG1, KAT14, KIF16B, KIZ, KIZ-AS1, LAMP5, LAMP5-AS1, LCDR, LINC00237, LINC00261, LINC00652, LINC00654, LINC00656, LINC00658, LINC00687, LINC00851, LINC01427, LINC01428, LINC01431, LINC01432, LINC01433, LINC01706, LINC01713, LINC01721, LINC01722, LINC01723, LINC01726 | | See cases | Pathogenic (Aug 1, 2014) | no assertion criteria provided |
| - GRCh37:
- Chr20:61569-18668675
- GRCh38:
- Chr20:80928-18688031
| ADAM33, ADISSP, ADRA1D, ANGPT4, ANKEF1, AP5S1, ATRN, AVP, BANF2, BFSP1, BMP2, BTBD3, C20orf141, C20orf202, C20orf96, CASC20, CDC25B, CDS2, CENPB, CHGB, CPXM1, CRLS1, CSNK2A1, DDRGK1, DEFB125, DEFB126, DEFB127, DEFB128, DEFB129, DEFB132, DNAAF9, DSTN, DTD1, DTD1-AS1, DZANK1, EBF4, ESF1, FAM110A, FASTKD5, FERMT1, FKBP1A, FKBP1A-SDCBP2, FLRT3, GFRA4, GNRH2, GPCPD1, HAO1, HSPA12B, IDH3B, ISM1, ISM1-AS1, ITPA, JAG1, KAT14, KIF16B, LAMP5, LAMP5-AS1, LINC00654, LINC00658, LINC00687, LINC00851, LINC01428, LINC01433, LINC01706, LINC01713, LINC01722, LINC01723, LINC01729, LINC01730, LINC01751, LINC01752, LINC02871, LINC03086, LOC101929413, LOC102606466, LOC105372493, LOC106799846, LOC107457602, LOC108178991, LOC108178992, LOC109363676, LOC109504727, LOC110120914, LOC110121338, LOC111240478, LOC111240479, LOC111365169, LOC111365189, LOC112694687, LOC112694688, LOC112694689, LOC112694690, LOC112694697, LOC112694698, LOC112694699, LOC112694712, LOC112694713, LOC112694729, LOC112694730, LOC112694731, LOC113939990, LOC113939991, LOC113939992, LOC114004355, LOC116286198, LOC116286199, LOC116286200, LOC116286201, LOC116286202, LOC116286203, LOC121627890, LOC121627891, LOC121627892, LOC121627893, LOC121627894, LOC121627895, LOC121852995, LOC121852996, LOC121852997, LOC121852998, LOC121852999, LOC125384555, LOC125384556, LOC125384557, LOC125384558, LOC125384559, LOC125384560, LOC125384561, LOC125384562, LOC125384563, LOC125384564, LOC125384565, LOC125384566, LOC125384567, LOC125384568, LOC125384569, LOC125384570, LOC125384571, LOC125384572, LOC125384573, LOC125384574, LOC125384575, LOC125384576, LOC125384577, LOC125384578, LOC125384579, LOC125384580, LOC125384581, LOC125384582, LOC125384583, LOC125384584, LOC125384585, LOC125384586, LOC125384587, LOC125384588, LOC125384589, LOC126862948, LOC126862949, LOC126862950, LOC126862951, LOC126862952, LOC126862953, LOC126862954, LOC126862955, LOC126862956, LOC126862957, LOC126862958, LOC126862959, LOC126862960, LOC126862961, LOC126862962, LOC126862963, LOC126862964, LOC126862965, LOC126862966, LOC126862967, LOC126862968, LOC126862969, LOC126862970, LOC126862971, LOC126862972, LOC126862973, LOC126862974, LOC126862975, LOC126862976, LOC126862977, LOC126862978, LOC126862979, LOC126862980, LOC126862981, LOC126862982, LOC126862983, LOC126862984, LOC126862985, LOC126862986, LOC126862987, LOC128706665, LOC128706666, LOC339593, LOC613266, LOC643406, LRRN4, LZTS3, MACROD2, MACROD2-AS1, MACROD2-IT1, MAVS, MCM8, MCM8-AS1, MGME1, MIR103A2, MIR103B2, MIR1292, MIR3192, MIR6869, MIR6870, MIR8062, MKKS, MRPS26, NDUFAF5, NOP56, NRSN2, NRSN2-AS1, NSFL1C, OTOR, OVOL2, OXT, PAK5, PANK2, PARAL1, PCED1A, PCNA, PCNA-AS1, PCSK2, PDYN, PDYN-AS1, PET117, PLCB1, PLCB1-IT1, PLCB4, POLR3F, PRND, PRNP, PRNT, PROKR2, PSMF1, PTPRA, RAD21L1, RASSF2, RBBP9, RBCK1, RNF24, RNU105B, RRBP1, RSPO4, SCRT2, SDCBP2, SDCBP2-AS1, SEC23B, SEL1L2, SHLD1, SIGLEC1, SIRPA, SIRPB1, SIRPB2, SIRPD, SIRPG, SIRPG-AS1, SLC23A2, SLC4A11, SLC52A3, SLX4IP, SMIM26, SMOX, SNAP25, SNAP25-AS1, SNORA51, SNORD110, SNORD119, SNORD17, SNORD56, SNORD57, SNORD86, SNPH, SNRPB, SNRPB2, SNX5, SOX12, SPEF1, SPTLC3, SRXN1, STK35, TASP1, TBC1D20, TCF15, TGM3, TGM6, TMC2, TMEM230, TMEM239, TMEM74B, TMX4, TMX4-AS1, TRIB3, TRMT6, UBOX5, UBOX5-AS1, VPS16, ZCCHC3, ZNF133, ZNF133-AS1, ZNF343 | | See cases | Pathogenic (Sep 27, 2013) | no assertion criteria provided |
| - GRCh37:
- Chr20:70580-19052139
- GRCh38:
- Chr20:89939-19071495
| ADAM33, ADISSP, ADRA1D, ANGPT4, ANKEF1, AP5S1, ATRN, AVP, BANF2, BFSP1, BMP2, BTBD3, C20orf141, C20orf202, C20orf96, CASC20, CDC25B, CDS2, CENPB, CHGB, CPXM1, CRLS1, CSNK2A1, DDRGK1, DEFB125, DEFB126, DEFB127, DEFB128, DEFB129, DEFB132, DNAAF9, DSTN, DTD1, DTD1-AS1, DZANK1, EBF4, ESF1, FAM110A, FASTKD5, FERMT1, FKBP1A, FKBP1A-SDCBP2, FLRT3, GFRA4, GNRH2, GPCPD1, HAO1, HSPA12B, IDH3B, ISM1, ISM1-AS1, ITPA, JAG1, KAT14, KIF16B, LAMP5, LAMP5-AS1, LCDR, LINC00652, LINC00654, LINC00658, LINC00687, LINC00851, LINC01428, LINC01433, LINC01706, LINC01713, LINC01722, LINC01723, LINC01729, LINC01730, LINC01751, LINC01752, LINC02871, LINC03086, LOC101929413, LOC102606466, LOC105372493, LOC106799846, LOC107457602, LOC108178991, LOC108178992, LOC109363676, LOC109504727, LOC110120914, LOC110121338, LOC111240478, LOC111240479, LOC111365169, LOC111365189, LOC112694687, LOC112694688, LOC112694689, LOC112694690, LOC112694697, LOC112694698, LOC112694699, LOC112694712, LOC112694713, LOC112694729, LOC112694730, LOC112694731, LOC113939990, LOC113939991, LOC113939992, LOC114004355, LOC116286198, LOC116286199, LOC116286200, LOC116286201, LOC116286202, LOC116286203, LOC121627890, LOC121627891, LOC121627892, LOC121627893, LOC121627894, LOC121627895, LOC121852995, LOC121852996, LOC121852997, LOC121852998, LOC121852999, LOC125384555, LOC125384556, LOC125384557, LOC125384558, LOC125384559, LOC125384560, LOC125384561, LOC125384562, LOC125384563, LOC125384564, LOC125384565, LOC125384566, LOC125384567, LOC125384568, LOC125384569, LOC125384570, LOC125384571, LOC125384572, LOC125384573, LOC125384574, LOC125384575, LOC125384576, LOC125384577, LOC125384578, LOC125384579, LOC125384580, LOC125384581, LOC125384582, LOC125384583, LOC125384584, LOC125384585, LOC125384586, LOC125384587, LOC125384588, LOC125384589, LOC126862948, LOC126862949, LOC126862950, LOC126862951, LOC126862952, LOC126862953, LOC126862954, LOC126862955, LOC126862956, LOC126862957, LOC126862958, LOC126862959, LOC126862960, LOC126862961, LOC126862962, LOC126862963, LOC126862964, LOC126862965, LOC126862966, LOC126862967, LOC126862968, LOC126862969, LOC126862970, LOC126862971, LOC126862972, LOC126862973, LOC126862974, LOC126862975, LOC126862976, LOC126862977, LOC126862978, LOC126862979, LOC126862980, LOC126862981, LOC126862982, LOC126862983, LOC126862984, LOC126862985, LOC126862986, LOC126862987, LOC126862988, LOC126862989, LOC128706665, LOC128706666, LOC339593, LOC613266, LOC643406, LRRN4, LZTS3, MACROD2, MACROD2-AS1, MACROD2-IT1, MAVS, MCM8, MCM8-AS1, MGME1, MIR103A2, MIR103B2, MIR1292, MIR3192, MIR6869, MIR6870, MIR8062, MKKS, MRPS26, NDUFAF5, NOP56, NRSN2, NRSN2-AS1, NSFL1C, OTOR, OVOL2, OXT, PAK5, PANK2, PARAL1, PCED1A, PCNA, PCNA-AS1, PCSK2, PDYN, PDYN-AS1, PET117, PLCB1, PLCB1-IT1, PLCB4, POLR3F, PRND, PRNP, PRNT, PROKR2, PSMF1, PTPRA, RAD21L1, RASSF2, RBBP9, RBCK1, RNF24, RNU105B, RRBP1, RSPO4, SCP2D1, SCP2D1-AS1, SCRT2, SDCBP2, SDCBP2-AS1, SEC23B, SEL1L2, SHLD1, SIGLEC1, SIRPA, SIRPB1, SIRPB2, SIRPD, SIRPG, SIRPG-AS1, SLC23A2, SLC4A11, SLC52A3, SLX4IP, SMIM26, SMOX, SNAP25, SNAP25-AS1, SNORA51, SNORD110, SNORD119, SNORD17, SNORD56, SNORD57, SNORD86, SNPH, SNRPB, SNRPB2, SNX5, SOX12, SPEF1, SPTLC3, SRXN1, STK35, TASP1, TBC1D20, TCF15, TGM3, TGM6, TMC2, TMEM230, TMEM239, TMEM74B, TMX4, TMX4-AS1, TRIB3, TRMT6, UBOX5, UBOX5-AS1, VPS16, ZCCHC3, ZNF133, ZNF133-AS1, ZNF343 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr20:70580-25678200
- GRCh38:
- Chr20:89939-25697564
| LOC112694731, LOC113939990, LOC113939991, LOC113939992, LOC114004355, LOC114827862, LOC116286198, LOC116286199, LOC116286200, LOC116286201, LOC116286202, LOC116286203, LOC121627890, LOC121627891, LOC121627892, LOC121627893, LOC121627894, LOC121627895, LOC121627896, LOC121627897, LOC121627898, LOC121627899, LOC121627900, LOC121627901, LOC121852995, LOC121852996, LOC121852997, LOC121852998, LOC121852999, LOC121853000, LOC121853001, LOC125384555, LOC125384556, LOC125384557, LOC125384558, LOC125384559, LOC125384560, LOC125384561, LOC125384562, LOC125384563, LOC125384564, LOC125384565, LOC125384566, LOC125384567, LOC125384568, LOC125384569, LOC125384570, LOC125384571, LOC125384572, LOC125384573, LOC125384574, LOC125384575, LOC125384576, LOC125384577, LOC125384578, LOC125384579, LOC125384580, LOC125384581, LOC125384582, LOC125384583, LOC125384584, LOC125384585, LOC125384586, LOC125384587, LOC125384588, LOC125384589, LOC125384590, LOC125384592, LOC125384593, LOC125384594, LOC125387241, LOC125387242, LOC125387243, LOC125387244, LOC125387245, LOC125387246, LOC125387247, LOC126862948, LOC126862949, LOC126862950, LOC126862951, LOC126862952, LOC126862953, LOC126862954, LOC126862955, LOC126862956, LOC126862957, LOC126862958, LOC126862959, LOC126862960, LOC126862961, LOC126862962, LOC126862963, LOC126862964, LOC126862965, LOC126862966, LOC126862967, LOC126862968, LOC126862969, LOC126862970, LOC126862971, LOC126862972, LOC126862973, LOC126862974, LOC126862975, LOC126862976, LOC126862977, LOC126862978, LOC126862979, LOC126862980, LOC126862981, LOC126862982, LOC126862983, LOC126862984, LOC126862985, LOC126862986, LOC126862987, LOC126862988, LOC126862989, LOC126862990, LOC126862991, LOC126862992, LOC126862993, LOC126862994, LOC126862995, LOC126862996, LOC126862997, LOC126862998, LOC126862999, LOC126863000, LOC126863001, LOC126863002, LOC126863003, LOC126863004, LOC126863005, LOC126863006, LOC126863007, LOC126863008, LOC126863009, LOC128706665, LOC128706666, LOC284788, LOC284798, LOC339593, LOC613266, LOC643406, LRRN4, LZTS3, MACROD2, MACROD2-AS1, MACROD2-IT1, MAVS, MCM8, MCM8-AS1, MGME1, MIR103A2, MIR103B2, MIR1292, MIR3192, MIR6869, MIR6870, MIR8062, MKKS, MRPS26, NAA20, NANP, NAPB, NDUFAF5, NINL, NKX2-2, NKX2-4, NOP56, NRSN2, NRSN2-AS1, NSFL1C, NXT1, OTOR, OVOL2, OXT, PAK5, PANK2, PARAL1, PAX1, PCED1A, PCNA, PCNA-AS1, PCSK2, PDYN, PDYN-AS1, PET117, PLCB1, PLCB1-IT1, PLCB4, POLR3F, PRND, PRNP, PRNT, PROKR2, PSMF1, PTPRA, PYGB, RAD21L1, RALGAPA2, RASSF2, RBBP9, RBCK1, RIN2, RNF24, RNU105B, RRBP1, RSPO4, SCP2D1, SCP2D1-AS1, SCRT2, SDCBP2, SDCBP2-AS1, SEC23B, SEL1L2, SHLD1, SIGLEC1, SIRPA, SIRPB1, SIRPB2, SIRPD, SIRPG, SIRPG-AS1, SLC23A2, SLC24A3, SLC24A3-AS1, SLC4A11, SLC52A3, SLX4IP, SMIM26, SMOX, SNAP25, SNAP25-AS1, SNORA51, SNORD110, SNORD119, SNORD17, SNORD56, SNORD57, SNORD86, SNPH, SNRPB, SNRPB2, SNX5, SOX12, SPEF1, SPTLC3, SRXN1, SSTR4, STK35, SYNDIG1, TASP1, TBC1D20, TCF15, TGM3, TGM6, THBD, TMC2, TMEM230, TMEM239, TMEM74B, TMX4, TMX4-AS1, TRIB3, TRMT6, UBOX5, UBOX5-AS1, VPS16, VSX1, XRN2, ZCCHC3, ZNF133, ZNF133-AS1, ZNF337, ZNF337-AS1, ZNF343, ABHD12, ACSS1, ADAM33, ADISSP, ADRA1D, ANGPT4, ANKEF1, AP5S1, APMAP, ATRN, AVP, BANF2, BFSP1, BMP2, BTBD3, C20orf141, C20orf202, C20orf96, CASC20, CD93, CDC25B, CDS2, CENPB, CFAP61, CFAP61-AS1, CHGB, CPXM1, CRLS1, CRNKL1, CSNK2A1, CST1, CST11, CST2, CST3, CST4, CST5, CST7, CST8, CST9, CST9L, CSTL1, DDRGK1, DEFB125, DEFB126, DEFB127, DEFB128, DEFB129, DEFB132, DNAAF9, DSTN, DTD1, DTD1-AS1, DZANK1, EBF4, ENTPD6, ESF1, FAM110A, FASTKD5, FERMT1, FKBP1A, FKBP1A-SDCBP2, FLRT3, FOXA2, GFRA4, GGTLC1, GINS1, GNRH2, GPCPD1, GZF1, HAO1, HSPA12B, IDH3B, INSM1, ISM1, ISM1-AS1, ITPA, JAG1, KAT14, KIF16B, KIZ, KIZ-AS1, LAMP5, LAMP5-AS1, LCDR, LINC00237, LINC00261, LINC00652, LINC00654, LINC00656, LINC00658, LINC00687, LINC00851, LINC01427, LINC01428, LINC01431, LINC01432, LINC01433, LINC01706, LINC01713, LINC01721, LINC01722, LINC01723, LINC01726, LINC01727, LINC01729, LINC01730, LINC01747, LINC01751, LINC01752, LINC02871, LINC03086, LNCNEF, LOC101926889, LOC101929413, LOC102606466, LOC105372493, LOC105372576, LOC106799846, LOC107457602, LOC107987276, LOC108178991, LOC108178992, LOC108228200, LOC108228202, LOC109363676, LOC109504727, LOC110120914, LOC110120921, LOC110120949, LOC110121332, LOC110121338, LOC111240478, LOC111240479, LOC111365169, LOC111365189, LOC111465001, LOC112268271, LOC112694687, LOC112694688, LOC112694689, LOC112694690, LOC112694691, LOC112694692, LOC112694693, LOC112694694, LOC112694695, LOC112694696, LOC112694697, LOC112694698, LOC112694699, LOC112694712, LOC112694713, LOC112694729, LOC112694730 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr20:70580-19126923
- GRCh38:
- Chr20:89939-19146279
| ADAM33, ADISSP, ADRA1D, ANGPT4, ANKEF1, AP5S1, ATRN, AVP, BANF2, BFSP1, BMP2, BTBD3, C20orf141, C20orf202, C20orf96, CASC20, CDC25B, CDS2, CENPB, CHGB, CPXM1, CRLS1, CSNK2A1, DDRGK1, DEFB125, DEFB126, DEFB127, DEFB128, DEFB129, DEFB132, DNAAF9, DSTN, DTD1, DTD1-AS1, DZANK1, EBF4, ESF1, FAM110A, FASTKD5, FERMT1, FKBP1A, FKBP1A-SDCBP2, FLRT3, GFRA4, GNRH2, GPCPD1, HAO1, HSPA12B, IDH3B, ISM1, ISM1-AS1, ITPA, JAG1, KAT14, KIF16B, LAMP5, LAMP5-AS1, LCDR, LINC00652, LINC00654, LINC00658, LINC00687, LINC00851, LINC01428, LINC01433, LINC01706, LINC01713, LINC01722, LINC01723, LINC01729, LINC01730, LINC01751, LINC01752, LINC02871, LINC03086, LOC101929413, LOC102606466, LOC105372493, LOC106799846, LOC107457602, LOC108178991, LOC108178992, LOC109363676, LOC109504727, LOC110120914, LOC110121338, LOC111240478, LOC111240479, LOC111365169, LOC111365189, LOC112694687, LOC112694688, LOC112694689, LOC112694690, LOC112694697, LOC112694698, LOC112694699, LOC112694712, LOC112694713, LOC112694729, LOC112694730, LOC112694731, LOC113939990, LOC113939991, LOC113939992, LOC114004355, LOC116286198, LOC116286199, LOC116286200, LOC116286201, LOC116286202, LOC116286203, LOC121627890, LOC121627891, LOC121627892, LOC121627893, LOC121627894, LOC121627895, LOC121852995, LOC121852996, LOC121852997, LOC121852998, LOC121852999, LOC125384555, LOC125384556, LOC125384557, LOC125384558, LOC125384559, LOC125384560, LOC125384561, LOC125384562, LOC125384563, LOC125384564, LOC125384565, LOC125384566, LOC125384567, LOC125384568, LOC125384569, LOC125384570, LOC125384571, LOC125384572, LOC125384573, LOC125384574, LOC125384575, LOC125384576, LOC125384577, LOC125384578, LOC125384579, LOC125384580, LOC125384581, LOC125384582, LOC125384583, LOC125384584, LOC125384585, LOC125384586, LOC125384587, LOC125384588, LOC125384589, LOC126862948, LOC126862949, LOC126862950, LOC126862951, LOC126862952, LOC126862953, LOC126862954, LOC126862955, LOC126862956, LOC126862957, LOC126862958, LOC126862959, LOC126862960, LOC126862961, LOC126862962, LOC126862963, LOC126862964, LOC126862965, LOC126862966, LOC126862967, LOC126862968, LOC126862969, LOC126862970, LOC126862971, LOC126862972, LOC126862973, LOC126862974, LOC126862975, LOC126862976, LOC126862977, LOC126862978, LOC126862979, LOC126862980, LOC126862981, LOC126862982, LOC126862983, LOC126862984, LOC126862985, LOC126862986, LOC126862987, LOC126862988, LOC126862989, LOC126862990, LOC128706665, LOC128706666, LOC339593, LOC613266, LOC643406, LRRN4, LZTS3, MACROD2, MACROD2-AS1, MACROD2-IT1, MAVS, MCM8, MCM8-AS1, MGME1, MIR103A2, MIR103B2, MIR1292, MIR3192, MIR6869, MIR6870, MIR8062, MKKS, MRPS26, NDUFAF5, NOP56, NRSN2, NRSN2-AS1, NSFL1C, OTOR, OVOL2, OXT, PAK5, PANK2, PARAL1, PCED1A, PCNA, PCNA-AS1, PCSK2, PDYN, PDYN-AS1, PET117, PLCB1, PLCB1-IT1, PLCB4, POLR3F, PRND, PRNP, PRNT, PROKR2, PSMF1, PTPRA, RAD21L1, RASSF2, RBBP9, RBCK1, RNF24, RNU105B, RRBP1, RSPO4, SCP2D1, SCP2D1-AS1, SCRT2, SDCBP2, SDCBP2-AS1, SEC23B, SEL1L2, SHLD1, SIGLEC1, SIRPA, SIRPB1, SIRPB2, SIRPD, SIRPG, SIRPG-AS1, SLC23A2, SLC4A11, SLC52A3, SLX4IP, SMIM26, SMOX, SNAP25, SNAP25-AS1, SNORA51, SNORD110, SNORD119, SNORD17, SNORD56, SNORD57, SNORD86, SNPH, SNRPB, SNRPB2, SNX5, SOX12, SPEF1, SPTLC3, SRXN1, STK35, TASP1, TBC1D20, TCF15, TGM3, TGM6, TMC2, TMEM230, TMEM239, TMEM74B, TMX4, TMX4-AS1, TRIB3, TRMT6, UBOX5, UBOX5-AS1, VPS16, ZCCHC3, ZNF133, ZNF133-AS1, ZNF343 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr20:80198-62908674
- GRCh38:
- Chr20:99557-64277321
| AAR2, ABALON, ABHD12, ABHD16B, ACOT8, ACSS1, ACSS2, ACTL10, ACTR5, ADA, ADAM33, ADIG, ADISSP, ADNP, ADNP-AS1, ADRA1D, ADRM1, AHCY, ANGPT4, ANKEF1, ANKRD60, AP5S1, APCDD1L, APCDD1L-DT, APMAP, ARFGAP1, ARFGEF2, ARFRP1, ARHGAP40, ASIP, ASXL1, ATP5F1E, ATP9A, SOX18, SPAG4, SPATA2, SPATA25, SPEF1, SPINT3, SPINT4, SPO11, SPTLC3, SRC, SRMS, SRSF6, SRXN1, SS18L1, SSTR4, STAU1, STK35, STK4, STK4-DT, STMN3, STX16, STX16-NPEPL1, SULF2, SUN5, SYCP2, SYNDIG1, SYS1, SYS1-DBNDD2, TAF4, TASP1, TBC1D20, TCEA2, TCF15, TCFL5, TFAP2C, TGIF2, TGIF2-RAB5IF, TGM2, TGM3, TGM6, THBD, TLDC2, TM9SF4, TMC2, TMEM230, TMEM239, TMEM74B, TMX4, TMX4-AS1, TNFRSF6B, TNNC2, TOMM34, TOP1, TOX2, TP53INP2, TP53RK, TP53TG5, TPD52L2, TPX2, TRERNA1, TRIB3, TRMT6, TRPC4AP, TSHZ2, TTI1, TTLL9, TTPAL, TUBB1, UBE2C, UBE2V1, UBOX5, UBOX5-AS1, UCKL1, UCKL1-AS1, UQCC1, VAPB, VPS16, VSTM2L, VSX1, WFDC10A, WFDC10B, WFDC11, WFDC12, WFDC13, WFDC2, WFDC3, WFDC5, WFDC6, WFDC8, WFDC9, XKR7, XRN2, YTHDF1, YWHAB, ZBP1, ZBTB46, ZBTB46-AS1, ZCCHC3, ZFAS1, ZFP64, ZGPAT, ZHX3, ZMYND8, ZNF133, ZNF133-AS1, ZNF217, ZNF334, ZNF335, ZNF337, ZNF337-AS1, ZNF341, ZNF341-AS1, ZNF343, ZNF512B, ZNF831, ZNF840P, ZNFX1, ZSWIM1, ZSWIM3, LOC125387263, LOC125387264, LOC125387265, LOC125387267, LOC125387268, LOC125387269, LOC125387271, LOC125387272, LOC125387273, LOC125387274, LOC125387275, LOC125387276, LOC125387277, LOC125387278, LOC125387279, LOC125387280, LOC125387281, LOC125387282, LOC125387283, LOC125387284, LOC125387285, LOC125387286, LOC125387287, LOC125387288, LOC125387289, LOC125387290, LOC125387291, LOC125387293, LOC125387294, LOC125387295, LOC125387296, LOC125387297, LOC125387298, LOC125387299, LOC125387300, LOC125387301, LOC125387302, LOC125387303, LOC125387304, LOC125387305, LOC125387306, LOC125387307, LOC125387308, LOC125387309, LOC125387310, LOC125387311, LOC125387312, LOC125387313, LOC125387316, LOC125387317, LOC125387318, LOC125387319, LOC125387320, LOC126862948, LOC126862949, LOC126862950, LOC126862951, LOC126862952, LOC126862953, LOC126862954, LOC126862955, LOC126862956, LOC126862957, LOC126862958, LOC126862959, LOC126862960, LOC126862961, LOC126862962, LOC126862963, LOC126862964, LOC126862965, LOC126862966, LOC126862967, LOC126862968, LOC126862969, LOC126862970, LOC126862971, LOC126862972, LOC126862973, LOC126862974, LOC126862975, LOC126862976, LOC126862977, LOC126862978, LOC126862979, LOC126862980, LOC126862981, LOC126862982, LOC126862983, LOC126862984, LOC126862985, LOC126862986, LOC126862987, LOC126862988, LOC126862989, LOC126862990, LOC126862991, LOC126862992, LOC126862993, LOC126862994, LOC126862995, LOC126862996, LOC126862997, LOC126862998, LOC126862999, LOC126863000, LOC126863001, LOC126863002, LOC126863003, LOC126863004, LOC126863005, LOC126863006, LOC126863007, LOC126863008, LOC126863009, LOC126863010, LOC126863011, LOC126863012, LOC126863013, LOC126863014, LOC126863015, LOC126863016, LOC126863017, LOC126863018, LOC126863019, LOC126863020, LOC126863021, LOC126863022, LOC126863023, LOC126863024, LOC126863025, LOC126863026, LOC126863027, LOC126863028, LOC126863029, LOC126863030, LOC126863031, LOC126863032, LOC126863033, LOC126863034, LOC126863035, LOC126863036, LOC126863037, LOC126863038, LOC126863039, LOC126863040, LOC126863041, LOC126863042, LOC126863043, LOC126863044, LOC126863045, LOC126863046, LOC126863047, LOC126863048, LOC126863049, LOC126863050, LOC126863051, LOC126863052, LOC126863053, LOC126863054, LOC126863055, LOC126863056, LOC126863057, LOC126863058, LOC126863059, LOC126863060, LOC126863061, LOC126863062, LOC126863063, LOC126863064, LOC126863065, LOC126863066, LOC126863067, LOC126863068, LOC126863069, LOC126863070, LOC126863071, LOC126863072, LOC126863073, LOC126863074, LOC126863075, LOC126863076, LOC126863077, LOC126863078, LOC126863079, LOC126863080, LOC126863081, LOC126863082, LOC126863083, LOC126863084, LOC126863085, LOC126863086, LOC126863087, LOC126863088, LOC126863089, LOC126863090, LOC126863091, LOC126863092, LOC127893450, LOC128706665, LOC128706666, LOC128772425, LOC128772426, LOC149684, LOC284788, LOC284798, LOC339593, LOC613266, LOC643406, LOC729296, LPIN3, LRRN4, LSM14B, LZTS3, MACROD2, MACROD2-AS1, MACROD2-IT1, MAFB, MANBAL, MAP1LC3A, MAPRE1, MATN4, MAVS, MC3R, MCM8, MCM8-AS1, MCTS2, MGME1, MHENCR, MIR1-1, MIR1-1HG, MIR103A2, MIR103B2, MIR12122, MIR124-3, MIR1257, MIR1289-1, MIR1292, MIR1302-5, MIR133A2, MIR1825, MIR1914, MIR296, MIR298, MIR3192, MIR3193, MIR3194, MIR3195, MIR3196, MIR3616, MIR3617, MIR3646, MIR4325, MIR4326, MIR4532, MIR4533, MIR4755, MIR4756, MIR4758, MIR499A, MIR499B, MIR548AG2, MIR548O2, MIR644A, MIR645, MIR646, MIR646HG, MIR647, MIR663A, MIR663AHG, MIR6812, MIR6813, MIR6869, MIR6870, MIR6871, MIR8062, MIR941-1, MIR941-2, MIR941-3, MIR941-4, MIR941-5, MKKS, MMP24, MMP24-AS1-EDEM2, MMP24OS, MMP9, MOCS3, MRGBP, MROH8, MRPS26, MTG2, MTRNR2L3, MYBL2, MYH7B, MYL9, MYLK2, MYT1, NAA20, NANP, NAPB, NCOA3, NCOA5, NCOA6, NDRG3, NDUFAF5, NECAB3, NELFCD, NEURL2, NFATC2, NFS1, NINL, NKAIN4, NKILA, NKX2-2, NKX2-4, NNAT, NOL4L, NOL4L-DT, NOP56, NORAD, NPBWR2, NPEPL1, NRSN2, NRSN2-AS1, NSFL1C, NTSR1, NXT1, OCSTAMP, OGFR, OGFR-AS1, OPRL1, OSBPL2, OSER1, OSER1-DT, OTOR, OVOL2, OXT, PABPC1L, PAK5, PANK2, PARAL1, PARD6B, PAX1, PCED1A, PCIF1, PCK1, PCMTD2, PCNA, PCNA-AS1, PCSK2, PDRG1, PDYN, PDYN-AS1, PEDS1, PEDS1-UBE2V1, PELATON, PET117, PFDN4, PHACTR3, PHACTR3-AS1, PHF20, PI3, PIGT, PIGU, PKIG, PLAGL2, PLCB1, PLCB1-IT1, PLCB4, PLCG1, PLCG1-AS1, PLTP, PMEPA1, POFUT1, POLR3F, PPDPF, PPP1R16B, PPP1R3D, PRELID3B, PREX1, PRND, PRNP, PRNT, PROCR, PROKR2, PRPF6, PSMA7, PSMF1, PTGIS, PTK6, PTPN1, PTPRA, PTPRT, PTPRT-AS1, PTPRT-DT, PXMP4, PYGB, R3HDML, R3HDML-AS1, RAB22A, RAB5IF, RAD21L1, RAE1, RALGAPA2, RALGAPB, RALY, RALY-AS1, RASSF2, RBBP8NL, RBBP9, RBCK1, RBL1, RBM12, RBM38, RBM38-AS1, RBM39, RBPJL, REM1, RGS19, RIMS4, RIN2, RIPOR3, RIPOR3-AS1, RNF114, RNF24, RNU105B, ROMO1, RPN2, RPRD1B, RPS21, RRBP1, RSPO4, RTEL1, RTEL1-TNFRSF6B, RTF2, SALL4, SAMD10, SAMHD1, SCAND1, SCP2D1, SCP2D1-AS1, SCRT2, SDC4, SDCBP2, SDCBP2-AS1, SEC23B, SEL1L2, SEMG1, SEMG2, SERINC3, SGK2, SHLD1, SIGLEC1, SIRPA, SIRPB1, SIRPB2, SIRPD, SIRPG, SIRPG-AS1, SLA2, SLC12A5, SLC12A5-AS1, SLC13A3, SLC17A9, SLC23A2, SLC24A3, SLC24A3-AS1, SLC2A10, SLC2A4RG, SLC32A1, SLC35C2, SLC4A11, SLC52A3, SLC9A8, SLCO4A1, SLCO4A1-AS1, SLCO4A1-AS2, SLMO2-ATP5E, SLPI, SLX4IP, SMIM26, SMOX, SNAI1, SNAP25, SNAP25-AS1, SNHG11, SNHG17, SNORA117, SNORA51, SNORA60, SNORA71A, SNORA71B, SNORA71C, SNORA71D, SNORA71E, SNORD110, SNORD119, SNORD12, SNORD12B, SNORD12C, SNORD154, SNORD17, SNORD56, SNORD57, SNORD86, SNPH, SNRPB, SNRPB2, SNTA1, SNX21, SNX5, SOGA1, SOX12, ATRN, AURKA, AVP, B4GALT5, BANF2, BCAS1, BCAS4, BCL2L1, BCL2L1-AS1, BFSP1, BHLHE23, BIRC7, BLCAP, BMP2, BMP7, BMP7-AS1, BPI, BPIFA1, BPIFA2, BPIFA3, BPIFB1, BPIFB2, BPIFB3, BPIFB4, BPIFB6, BTBD3, C20orf141, C20orf144, C20orf173, C20orf181, C20orf202, C20orf203, C20orf204, C20orf57, C20orf85, C20orf96, CABLES2, CASC20, CASS4, CBFA2T2, CBLN4, CCM2L, CCN5, CD40, CD93, CDC25B, CDH22, CDH26, CDH4, CDK5RAP1, CDS2, CEBPB, CEBPB-AS1, CENPB, CEP250, CEP250-AS1, CFAP61, CFAP61-AS1, CHD6, CHGB, CHMP4B, CHRNA4, CNBD2, COL20A1, COL9A3, COMMD7, COX4I2, CPNE1, CPXM1, CRLS1, CRMA, CRNKL1, CSE1L, CSE1L-DT, CSNK2A1, CST1, CST11, CST2, CST3, CST4, CST5, CST7, CST8, CST9, CST9L, CSTF1, CSTL1, CTCFL, CTNNBL1, CTSA, CTSZ, CYP24A1, DBNDD2, DDRGK1, DDX27, DEFB115, DEFB116, DEFB118, DEFB119, DEFB121, DEFB123, DEFB124, DEFB126, DEFB127, DEFB128, DEFB129, DEFB132, DHX35, DIDO1, DLGAP4, DLGAP4-AS1, DNAAF9, DNAJC5, DNMT3B, DNTTIP1, DOK5, DPM1, DSN1, DSTN, DTD1, DTD1-AS1, DUSP15, DYNLRB1, DZANK1, E2F1, EBF4, EDEM2, EDN3, EEF1A2, EFCAB8, EIF2S2, EIF6, ELMO2, EMILIN3, ENTPD6, EPB41L1, EPB41L1-AS1, EPPIN, EPPIN-WFDC6, ERGIC3, ESF1, EYA2, EYA2-AS1, FAM110A, FAM182A, FAM182B, FAM209A, FAM209B, FAM210B, FAM217B, FAM242A, FAM242B, FAM83C, FAM83C-AS1, FAM83D, FASTKD5, FERMT1, FITM2, FKBP1A, FKBP1A-SDCBP2, FLJ16779, FLRT3, FNDC11, FOXA2, FOXS1, GATA5, GCNT7, GDAP1L1, GDF5, GDF5-AS1, GFRA4, GGT7, GGTLC1, GHRH, GID8, GINS1, GMEB2, GNAS, GNAS-AS1, GNRH2, GPCPD1, GSS, GTSF1L, GZF1, HAO1, HAR1A, HAR1B, HCK, HELZ2, HM13, HM13-AS1, HNF4A, HNF4A-AS1, HRH3, HSPA12B, ID1, IDH3B, IFT52, INSM1, ISM1, ISM1-AS1, ITCH, ITPA, JAG1, JPH2, KAT14, KCNB1, KCNG1, KCNK15, KCNK15-AS1, KCNQ2, KCNQ2-AS1, KCNS1, KIAA1755, KIF16B, KIF3B, KIZ, KIZ-AS1, L3MBTL1, LAMA5, LAMA5-AS1, LAMP5, LAMP5-AS1, LBP, LCDR, LIME1, LINC00028, LINC00029, LINC00237, LINC00261, LINC00489, LINC00494, LINC00652, LINC00654, LINC00656, LINC00658, LINC00659, LINC00687, LINC00851, LINC01056, LINC01260, LINC01270, LINC01271, LINC01273, LINC01275, LINC01370, LINC01427, LINC01428, LINC01429, LINC01430, LINC01431, LINC01432, LINC01433, LINC01440, LINC01441, LINC01522, LINC01523, LINC01524, LINC01597, LINC01620, LINC01706, LINC01711, LINC01713, LINC01716, LINC01718, LINC01721, LINC01722, LINC01723, LINC01726, LINC01727, LINC01728, LINC01729, LINC01730, LINC01733, LINC01734, LINC01742, LINC01746, LINC01747, LINC01749, LINC01751, LINC01752, LINC01754, LINC02597, LINC02871, LINC02910, LINC02970, LINC03086, LKAAEAR1, LNCNEF, LOC100128028, LOC100128310, LOC100128988, LOC100130587, LOC100131496, LOC100134868, LOC100287792, LOC101926889, LOC101926935, LOC101927159, LOC101927377, LOC101927770, LOC101927932, LOC101928048, LOC101929413, LOC101929698, LOC102606466, LOC102723636, LOC105369209, LOC105372493, LOC105372576, LOC105372582, LOC105372631, LOC105372633, LOC105372653, LOC105372672, LOC105372695, LOC105372698, LOC105379477, LOC106799846, LOC106992256, LOC107080552, LOC107303343, LOC107457602, LOC107985388, LOC107985433, LOC107987276, LOC108167311, LOC108167312, LOC108178991, LOC108178992, LOC108228200, LOC108228202, LOC108254667, LOC108281116, LOC108353820, LOC109363676, LOC109461473, LOC109461476, LOC109504727, LOC109621227, LOC110120877, LOC110120914, LOC110120921, LOC110120949, LOC110121317, LOC110121321, LOC110121332, LOC110121338, LOC110121370, LOC110121454, LOC110121469, LOC110121477, LOC110121484, LOC110121494, LOC110121497, LOC110594337, LOC111240478, LOC111240479, LOC111365159, LOC111365169, LOC111365189, LOC111365218, LOC111413042, LOC111465001, LOC111562371, LOC112268269, LOC112268270, LOC112268271, LOC112694687, LOC112694688, LOC112694689, LOC112694690, LOC112694691, LOC112694692, LOC112694693, LOC112694694, LOC112694695, LOC112694696, LOC112694697, LOC112694698, LOC112694699, LOC112694700, LOC112694701, LOC112694702, LOC112694703, LOC112694704, LOC112694705, LOC112694706, LOC112694707, LOC112694708, LOC112694709, LOC112694710, LOC112694711, LOC112694712, LOC112694713, LOC112694714, LOC112694715, LOC112694716, LOC112694717, LOC112694718, LOC112694720, LOC112694721, LOC112694722, LOC112694723, LOC112694724, LOC112694725, LOC112694726, LOC112694727, LOC112694728, LOC112694729, LOC112694730, LOC112694731, LOC113939990, LOC113939991, LOC113939992, LOC113960609, LOC113960610, LOC113960611, LOC114004352, LOC114004353, LOC114004355, LOC114004356, LOC114004357, LOC114803474, LOC114827862, LOC114827864, LOC116286198, LOC116286199, LOC116286200, LOC116286201, LOC116286202, LOC116286203, LOC116286204, LOC116286205, LOC116286206, LOC116286207, LOC116286208, LOC116286209, LOC119746555, LOC120285836, LOC120285842, LOC121627890, LOC121627891, LOC121627892, LOC121627893, LOC121627894, LOC121627895, LOC121627896, LOC121627897, LOC121627898, LOC121627899, LOC121627900, LOC121627901, LOC121627902, LOC121627903, LOC121627904, LOC121627905, LOC121627906, LOC121627907, LOC121627908, LOC121627909, LOC121627910, LOC121627911, LOC121627912, LOC121627913, LOC121627914, LOC121627915, LOC121627916, LOC121852995, LOC121852996, LOC121852997, LOC121852998, LOC121852999, LOC121853000, LOC121853001, LOC121853002, LOC121853003, LOC121853004, LOC121853005, LOC121853006, LOC121853007, LOC121853008, LOC121853009, LOC121853010, LOC121853011, LOC121853012, LOC121853013, LOC121853014, LOC121853015, LOC121853016, LOC121853017, LOC121853018, LOC121853019, LOC121853020, LOC125384555, LOC125384556, LOC125384557, LOC125384558, LOC125384559, LOC125384560, LOC125384561, LOC125384562, LOC125384563, LOC125384564, LOC125384565, LOC125384566, LOC125384567, LOC125384568, LOC125384569, LOC125384570, LOC125384571, LOC125384572, LOC125384573, LOC125384574, LOC125384575, LOC125384576, LOC125384577, LOC125384578, LOC125384579, LOC125384580, LOC125384581, LOC125384582, LOC125384583, LOC125384584, LOC125384585, LOC125384586, LOC125384587, LOC125384588, LOC125384589, LOC125384590, LOC125384592, LOC125384593, LOC125384594, LOC125387241, LOC125387242, LOC125387243, LOC125387244, LOC125387245, LOC125387246, LOC125387247, LOC125387248, LOC125387249, LOC125387253, LOC125387254, LOC125387257, LOC125387258, LOC125387260, LOC125387261, LOC125387262 | | See cases | Pathogenic (Oct 19, 2010) | no assertion criteria provided |
| - GRCh37:
- Chr20:6598342-13373206
- GRCh38:
- Chr20:6617695-13392559
| JAG1, LAMP5, LAMP5-AS1, LINC00687, LINC01428, LINC01706, LINC01713, LINC01722, LINC01723, LINC01751, LINC01752, LINC02871, LOC101929413, LOC102606466, LOC108178991, LOC108178992, LOC109363676, LOC110121338, LOC111365189, LOC112694687, LOC112694688, LOC112694689, LOC112694729, LOC112694730, LOC121627891, LOC121627892, LOC121627893, LOC125384574, LOC125384575, LOC125384576, LOC125384577, LOC125384578, LOC125384579, LOC125384580, LOC125384581, LOC125384582, LOC125384583, LOC125384584, LOC126862965, LOC126862966, LOC126862967, LOC126862968, LOC126862969, LOC126862970, LOC126862971, LOC126862972, LOC126862973, LOC126862974, LOC126862975, LOC126862976, LOC126862977, LOC126862978, LOC126862979, LOC128706665, LOC128706666, LOC339593, MIR6870, MIR8062, MKKS, PAK5, PARAL1, PLCB1, PLCB1-IT1, PLCB4, RNU105B, SLX4IP, SNAP25, SNAP25-AS1, SPTLC3, TASP1, TMX4, TMX4-AS1, ANKEF1, BMP2, BTBD3, HAO1, ISM1, ISM1-AS1 | | See cases | Pathogenic (Nov 30, 2010) | no assertion criteria provided |
| - GRCh37:
- Chr20:7547291-11009342
- GRCh38:
- Chr20:7566644-11028694
| ANKEF1, HAO1, JAG1, LAMP5, LAMP5-AS1, LINC01752, LINC02871, LOC101929413, LOC108178991, LOC108178992, LOC110121338, LOC111365189, LOC112694687, LOC112694688, LOC112694729, LOC112694730, LOC121627892, LOC125384574, LOC125384575, LOC125384576, LOC125384577, LOC125384578, LOC125384579, LOC125384580, LOC126862966, LOC126862967, LOC126862968, LOC126862969, LOC126862970, LOC126862971, LOC126862972, LOC126862973, LOC126862974, LOC128706665, LOC128706666, MIR6870, MKKS, PAK5, PARAL1, PLCB1, PLCB1-IT1, PLCB4, RNU105B, SLX4IP, SNAP25, SNAP25-AS1, TMX4, TMX4-AS1 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr20:9271259-14629182
- GRCh38:
- Chr20:9290612-14648536
| ANKEF1, BTBD3, ESF1, FLRT3, ISM1, ISM1-AS1, JAG1, LAMP5, LAMP5-AS1, LINC00687, LINC01722, LINC01723, LINC01752, LINC02871, LOC101929413, LOC102606466, LOC110121338, LOC112694687, LOC112694688, LOC112694689, LOC113939992, LOC121627892, LOC121627893, LOC125384578, LOC125384579, LOC125384580, LOC125384581, LOC125384582, LOC125384583, LOC125384584, LOC125384585, LOC125384586, LOC126862969, LOC126862970, LOC126862971, LOC126862972, LOC126862973, LOC126862974, LOC126862975, LOC126862976, LOC126862977, LOC126862978, LOC126862979, LOC128706665, LOC128706666, LOC339593, MACROD2, MACROD2-IT1, MIR6870, MKKS, NDUFAF5, PAK5, PARAL1, PLCB4, SEL1L2, SLX4IP, SNAP25, SNAP25-AS1, SPTLC3, TASP1 | | See cases | Uncertain significance (Jan 3, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr20:9531622-12064082
- GRCh38:
- Chr20:9550975-12083434
| ANKEF1, BTBD3, LOC112694688, JAG1, LINC00687, LINC01752, LINC02871, LOC101929413, LOC110121338, LOC112694687, LOC121627892, LOC121627893, LOC125384578, LOC125384579, LOC125384580, LOC125384581, LOC125384582, LOC126862969, LOC126862970, LOC126862971, LOC126862972, LOC126862973, LOC126862974, LOC126862975, LOC126862976, LOC126862977, LOC126862978, LOC128706665, LOC128706666, LOC339593, MIR6870, MKKS, PAK5, PARAL1, SLX4IP, SNAP25, SNAP25-AS1 | | See cases | Pathogenic (Nov 30, 2010) | no assertion criteria provided |
| - GRCh37:
- Chr20:9792081-37945599
- GRCh38:
- Chr20:9811433-39316956
| PCSK2, PDRG1, PET117, PHF20, PIGU, PLAGL2, POFUT1, POLR3F, PPP1R16B, PROCR, PXMP4, PYGB, RAB5IF, RALGAPA2, RALGAPB, RALY, RALY-AS1, RBBP9, RBL1, RBM12, RBM39, REM1, RIN2, ROMO1, RPN2, RPRD1B, RRBP1, SAMHD1, SCAND1, SCP2D1, SCP2D1-AS1, SEC23B, SEL1L2, SLA2, SLC24A3, SLC24A3-AS1, SLC32A1, SLX4IP, SMIM26, SNAP25, SNAP25-AS1, SNHG11, SNHG17, SNORA60, SNORA71A, SNORA71B, SNORA71C, SNORA71D, SNORA71E, SNORD17, SNRPB2, SNTA1, SNX5, SOGA1, SPAG4, SPTLC3, SRC, SSTR4, SUN5, SYNDIG1, TASP1, TGIF2, TGIF2-RAB5IF, TGM2, THBD, TLDC2, TM9SF4, TP53INP2, TPX2, TRPC4AP, TTI1, TTLL9, UQCC1, VSTM2L, VSX1, XKR7, XRN2, ZNF133, ZNF133-AS1, ZNF337, ZNF337-AS1, ZNF341, ZNF341-AS1, AAR2, ABALON, ABHD12, ACSS1, ACSS2, ACTL10, ACTR5, ADIG, AHCY, ANKEF1, APMAP, ARHGAP40, ASIP, ASXL1, BANF2, BCL2L1, BCL2L1-AS1, BFSP1, BLCAP, BPI, BPIFA1, BPIFA2, BPIFA3, BPIFB1, BPIFB2, BPIFB3, BPIFB4, BPIFB6, BTBD3, C20orf144, C20orf173, C20orf203, C20orf57, CBFA2T2, CCM2L, CD93, CDK5RAP1, CEP250, CEP250-AS1, CFAP61, CFAP61-AS1, CHMP4B, CNBD2, COMMD7, COX4I2, CPNE1, CRNKL1, CST1, CST11, CST2, CST3, CST4, CST5, CST7, CST8, CST9, CST9L, CSTL1, CTNNBL1, DEFB115, DEFB116, DEFB118, DEFB119, DEFB121, DEFB123, DEFB124, DHX35, DLGAP4, DLGAP4-AS1, DNMT3B, DSN1, DSTN, DTD1, DTD1-AS1, DUSP15, DYNLRB1, DZANK1, E2F1, EDEM2, EFCAB8, EIF2S2, EIF6, ENTPD6, EPB41L1, EPB41L1-AS1, ERGIC3, ESF1, FAM182A, FAM182B, FAM242A, FAM242B, FAM83C, FAM83C-AS1, FAM83D, FLRT3, FOXA2, FOXS1, GDF5, GDF5-AS1, GGT7, GGTLC1, GHRH, GINS1, GSS, GZF1, HCK, HM13, HM13-AS1, ID1, INSM1, ISM1, ISM1-AS1, ITCH, JAG1, KAT14, KIAA1755, KIF16B, KIF3B, KIZ, KIZ-AS1, LBP, LCDR, LINC00028, LINC00237, LINC00261, LINC00489, LINC00652, LINC00656, LINC00687, LINC00851, LINC01427, LINC01431, LINC01432, LINC01597, LINC01721, LINC01722, LINC01723, LINC01726, LINC01727, LINC01733, LINC01734, LINC01746, LINC01747, LINC01752, LINC02871, LNCNEF, LOC100134868, LOC100287792, LOC101926889, LOC101926935, LOC101929413, LOC101929698, LOC102606466, LOC102723636, LOC105372576, LOC105372582, LOC105379477, LOC107985433, LOC107987276, LOC108228200, LOC108228202, LOC108254667, LOC109461476, LOC110120877, LOC110120921, LOC110120949, LOC110121317, LOC110121332, LOC110121338, LOC110121477, LOC110121484, LOC110121494, LOC110121497, LOC111365218, LOC111465001, LOC112268271, LOC112694687, LOC112694688, LOC112694689, LOC112694690, LOC112694691, LOC112694692, LOC112694693, LOC112694694, LOC112694695, LOC112694696, LOC112694700, LOC112694701, LOC112694702, LOC112694703, LOC112694704, LOC112694705, LOC112694706, LOC112694707, LOC112694708, LOC112694709, LOC112694710, LOC113939992, LOC114827862, LOC116286204, LOC116286205, LOC119746555, LOC120285842, LOC121627892, LOC121627893, LOC121627894, LOC121627895, LOC121627896, LOC121627897, LOC121627898, LOC121627899, LOC121627900, LOC121627901, LOC121627902, LOC121627903, LOC121627904, LOC121627905, LOC121852999, LOC121853000, LOC121853001, LOC121853002, LOC121853003, LOC121853004, LOC121853005, LOC125384578, LOC125384579, LOC125384580, LOC125384581, LOC125384582, LOC125384583, LOC125384584, LOC125384585, LOC125384586, LOC125384587, LOC125384588, LOC125384589, LOC125384590, LOC125384592, LOC125384593, LOC125384594, LOC125387241, LOC125387242, LOC125387243, LOC125387244, LOC125387245, LOC125387246, LOC125387247, LOC125387248, LOC125387249, LOC125387253, LOC125387254, LOC125387257, LOC125387258, LOC125387260, LOC125387261, LOC125387262, LOC125387263, LOC125387264, LOC125387265, LOC125387267, LOC125387268, LOC125387269, LOC126862969, LOC126862970, LOC126862971, LOC126862972, LOC126862973, LOC126862974, LOC126862975, LOC126862976, LOC126862977, LOC126862978, LOC126862979, LOC126862980, LOC126862981, LOC126862982, LOC126862983, LOC126862984, LOC126862985, LOC126862986, LOC126862987, LOC126862988, LOC126862989, LOC126862990, LOC126862991, LOC126862992, LOC126862993, LOC126862994, LOC126862995, LOC126862996, LOC126862997, LOC126862998, LOC126862999, LOC126863000, LOC126863001, LOC126863002, LOC126863003, LOC126863004, LOC126863005, LOC126863006, LOC126863007, LOC126863008, LOC126863009, LOC126863010, LOC126863011, LOC126863012, LOC126863013, LOC126863014, LOC126863015, LOC126863016, LOC126863017, LOC126863018, LOC126863019, LOC126863020, LOC126863021, LOC126863022, LOC126863023, LOC126863024, LOC126863025, LOC126863026, LOC126863027, LOC128706665, LOC128706666, LOC149684, LOC284788, LOC284798, LOC339593, LOC613266, MACROD2, MACROD2-AS1, MACROD2-IT1, MANBAL, MAP1LC3A, MAPRE1, MCTS2, MGME1, MIR1289-1, MIR1825, MIR3192, MIR3193, MIR4755, MIR499A, MIR499B, MIR548O2, MIR644A, MIR663A, MIR663AHG, MIR6870, MKKS, MMP24, MMP24-AS1-EDEM2, MMP24OS, MROH8, MYH7B, MYL9, MYLK2, NAA20, NANP, NAPB, NCOA6, NDRG3, NDUFAF5, NECAB3, NFS1, NINL, NKX2-2, NKX2-4, NNAT, NOL4L, NOL4L-DT, NORAD, NXT1, OTOR, OVOL2, PAK5, PARAL1, PAX1 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr20:10234257-10654198
- GRCh38:
- Chr20:10253609-10673550
| JAG1, LOC112694687, LOC112694688, LOC121627892, LOC125384578, LOC125384579, LOC125384580, LOC126862972, LOC126862973, LOC128706665, LOC128706666, MIR6870, MKKS, SLX4IP, SNAP25 | | Alagille syndrome due to a JAG1 point mutation | Pathogenic (Dec 23, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr20:10618478
- GRCh38:
- Chr20:10637830
| JAG1 | | Isolated Nonsyndromic Congenital Heart Disease | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr20:10618509
- GRCh38:
- Chr20:10637861
| JAG1 | | Isolated Nonsyndromic Congenital Heart Disease | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr20:10618534
- GRCh38:
- Chr20:10637886
| JAG1 | | Isolated Nonsyndromic Congenital Heart Disease | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr20:10618574
- GRCh38:
- Chr20:10637926
| JAG1 | | Isolated Nonsyndromic Congenital Heart Disease, not provided | Benign (Apr 28, 2020) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:10618595
- GRCh38:
- Chr20:10637947
| JAG1 | | not provided, Isolated Nonsyndromic Congenital Heart Disease | Conflicting interpretations of pathogenicity (May 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr20:10618612-10618613
- GRCh38:
- Chr20:10637964-10637965
| JAG1 | | Arteriohepatic dysplasia, Isolated Nonsyndromic Congenital Heart Disease | Uncertain significance (Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr20:10618634-10618635
- GRCh38:
- Chr20:10637986-10637987
| JAG1 | | Isolated Nonsyndromic Congenital Heart Disease | Likely benign (Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr20:10618653
- GRCh38:
- Chr20:10638005
| JAG1 | | Isolated Nonsyndromic Congenital Heart Disease | Benign (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr20:10618706
- GRCh38:
- Chr20:10638058
| JAG1 | | Isolated Nonsyndromic Congenital Heart Disease | Uncertain significance (Mar 30, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr20:10618922
- GRCh38:
- Chr20:10638274
| JAG1 | | Isolated Nonsyndromic Congenital Heart Disease | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr20:10618932-10618934
- GRCh38:
- Chr20:10638284-10638286
| JAG1 | | Arteriohepatic dysplasia, Isolated Nonsyndromic Congenital Heart Disease | Uncertain significance (Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr20:10618940
- GRCh38:
- Chr20:10638292
| JAG1 | | Isolated Nonsyndromic Congenital Heart Disease | Benign (Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr20:10619010-10619013
- GRCh38:
- Chr20:10638362-10638365
| JAG1 | | Arteriohepatic dysplasia, Isolated Nonsyndromic Congenital Heart Disease | Uncertain significance (Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr20:10619014
- GRCh38:
- Chr20:10638366
| JAG1 | | Isolated Nonsyndromic Congenital Heart Disease | Benign (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr20:10619049-10619053
- GRCh38:
- Chr20:10638401-10638405
| JAG1 | | Arteriohepatic dysplasia, Isolated Nonsyndromic Congenital Heart Disease | Uncertain significance (Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr20:10619062
- GRCh38:
- Chr20:10638414
| JAG1 | | Isolated Nonsyndromic Congenital Heart Disease | Benign (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr20:10619176
- GRCh38:
- Chr20:10638528
| JAG1 | | Isolated Nonsyndromic Congenital Heart Disease | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr20:10619176-10619179
- GRCh38:
- Chr20:10638528-10638531
| JAG1 | | Arteriohepatic dysplasia, Isolated Nonsyndromic Congenital Heart Disease | Uncertain significance (Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr20:10619232
- GRCh38:
- Chr20:10638584
| JAG1 | | Isolated Nonsyndromic Congenital Heart Disease | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr20:10619265
- GRCh38:
- Chr20:10638617
| JAG1 | | Isolated Nonsyndromic Congenital Heart Disease | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr20:10619289-10619290
- GRCh38:
- Chr20:10638641-10638642
| JAG1 | | Isolated Nonsyndromic Congenital Heart Disease | Benign (Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr20:10619390
- GRCh38:
- Chr20:10638742
| JAG1 | | Isolated Nonsyndromic Congenital Heart Disease | Benign (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr20:10619497-10619499
- GRCh38:
- Chr20:10638849-10638851
| JAG1 | | Arteriohepatic dysplasia, Isolated Nonsyndromic Congenital Heart Disease | Uncertain significance (Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr20:10619505
- GRCh38:
- Chr20:10638857
| JAG1 | | Isolated Nonsyndromic Congenital Heart Disease | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr20:10619527
- GRCh38:
- Chr20:10638879
| JAG1 | | Isolated Nonsyndromic Congenital Heart Disease | Benign (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr20:10619559
- GRCh38:
- Chr20:10638911
| JAG1 | | Isolated Nonsyndromic Congenital Heart Disease | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr20:10619581-10619583
- GRCh38:
- Chr20:10638933-10638935
| JAG1 | | Isolated Nonsyndromic Congenital Heart Disease | Likely benign (Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr20:10619625
- GRCh38:
- Chr20:10638977
| JAG1 | | Isolated Nonsyndromic Congenital Heart Disease | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr20:10619660
- GRCh38:
- Chr20:10639012
| JAG1 | | Isolated Nonsyndromic Congenital Heart Disease | Benign (Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr20:10619745
- GRCh38:
- Chr20:10639097
| JAG1 | | Isolated Nonsyndromic Congenital Heart Disease | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr20:10619748
- GRCh38:
- Chr20:10639100
| JAG1 | | Isolated Nonsyndromic Congenital Heart Disease | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr20:10619768
- GRCh38:
- Chr20:10639120
| JAG1 | | Isolated Nonsyndromic Congenital Heart Disease | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr20:10619849
- GRCh38:
- Chr20:10639201
| JAG1 | | Isolated Nonsyndromic Congenital Heart Disease | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr20:10619893
- GRCh38:
- Chr20:10639245
| JAG1 | | Arteriohepatic dysplasia, Isolated Nonsyndromic Congenital Heart Disease | Uncertain significance (Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr20:10620125
- GRCh38:
- Chr20:10639477
| JAG1 | | Isolated Nonsyndromic Congenital Heart Disease | Likely benign (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr20:10620128
- GRCh38:
- Chr20:10639480
| JAG1 | | Isolated Nonsyndromic Congenital Heart Disease | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr20:10620137
- GRCh38:
- Chr20:10639489
| JAG1 | | not provided | Uncertain significance (Mar 21, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr20:10620139
- GRCh38:
- Chr20:10639491
| JAG1 | | not provided | Uncertain significance (Aug 14, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr20:10620140
- GRCh38:
- Chr20:10639492
| JAG1 | | Isolated Nonsyndromic Congenital Heart Disease | Benign (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr20:10620144
- GRCh38:
- Chr20:10639496
| JAG1 | | not specified | Likely benign (Feb 16, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr20:10620150
- GRCh38:
- Chr20:10639502
| JAG1 | V1218E | Cardiovascular phenotype | Uncertain significance (Feb 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr20:10620151
- GRCh38:
- Chr20:10639503
| JAG1 | V1218I | Cardiovascular phenotype, Alagille syndrome due to a JAG1 point mutation, Deafness, congenital heart defects, and posterior embryotoxon, Tetralogy of Fallot, Charcot-Marie-Tooth disease, axonal, Type 2HH, Alagille syndrome due to a JAG1 point mutation, not provided | Conflicting interpretations of pathogenicity (Sep 19, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr20:10620152
- GRCh38:
- Chr20:10639504
| JAG1 | | Isolated Nonsyndromic Congenital Heart Disease, not provided, Alagille syndrome due to a JAG1 point mutation
| Conflicting interpretations of pathogenicity (Oct 8, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr20:10620159
- GRCh38:
- Chr20:10639511
| JAG1 | E1215A | Inborn genetic diseases | Uncertain significance (Dec 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr20:10620165
- GRCh38:
- Chr20:10639517
| JAG1 | R1213L | Alagille syndrome due to a JAG1 point mutation | Uncertain significance (Aug 26, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr20:10620165
- GRCh38:
- Chr20:10639517
| JAG1 | R1213Q | not provided, Tetralogy of Fallot, Alagille syndrome due to a JAG1 point mutation, Deafness, congenital heart defects, and posterior embryotoxon, Charcot-Marie-Tooth disease, axonal, Type 2HH, Alagille syndrome due to a JAG1 point mutation
| Conflicting interpretations of pathogenicity (Oct 17, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr20:10620166
- GRCh38:
- Chr20:10639518
| JAG1 | R1213* | Alagille syndrome due to a JAG1 point mutation, Tetralogy of Fallot, Deafness, congenital heart defects, and posterior embryotoxon, Charcot-Marie-Tooth disease, axonal, Type 2HH, Alagille syndrome due to a JAG1 point mutation, not provided
| Uncertain significance (Jul 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:10620180
- GRCh38:
- Chr20:10639532
| JAG1 | A1208V | Alagille syndrome due to a JAG1 point mutation | Uncertain significance (May 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr20:10620183
- GRCh38:
- Chr20:10639535
| JAG1 | S1207N | Alagille syndrome due to a JAG1 point mutation | Uncertain significance (Mar 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr20:10620212
- GRCh38:
- Chr20:10639564
| JAG1 | | Alagille syndrome due to a JAG1 point mutation | Likely benign (Aug 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr20:10620214
- GRCh38:
- Chr20:10639566
| JAG1 | T1197A | Alagille syndrome due to a JAG1 point mutation | Likely benign (Oct 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr20:10620220
- GRCh38:
- Chr20:10639572
| JAG1 | N1195D | Inborn genetic diseases, not specified, Alagille syndrome due to a JAG1 point mutation
| Conflicting interpretations of pathogenicity (Jul 12, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr20:10620222
- GRCh38:
- Chr20:10639574
| JAG1 | P1194L | Cardiovascular phenotype | Uncertain significance (Aug 7, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr20:10620224
- GRCh38:
- Chr20:10639576
| JAG1 | H1193Q | Cardiovascular phenotype | Uncertain significance (Feb 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr20:10620226
- GRCh38:
- Chr20:10639578
| JAG1 | H1193Y | Alagille syndrome due to a JAG1 point mutation | Benign (May 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr20:10620230
- GRCh38:
- Chr20:10639582
| JAG1 | | Alagille syndrome due to a JAG1 point mutation | Likely benign (Dec 14, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr20:10620233
- GRCh38:
- Chr20:10639585
| JAG1 | | Cardiovascular phenotype, Alagille syndrome due to a JAG1 point mutation, not provided, Isolated Nonsyndromic Congenital Heart Disease | Conflicting interpretations of pathogenicity (Sep 30, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr20:10620234
- GRCh38:
- Chr20:10639586
| JAG1 | P1190L | Inborn genetic diseases | Uncertain significance (Oct 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr20:10620236
- GRCh38:
- Chr20:10639588
| JAG1 | | Cardiovascular phenotype, Alagille syndrome due to a JAG1 point mutation, Deafness, congenital heart defects, and posterior embryotoxon, Charcot-Marie-Tooth disease, axonal, Type 2HH, Tetralogy of Fallot, Alagille syndrome due to a JAG1 point mutation, not provided | Likely benign (Oct 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:10620237
- GRCh38:
- Chr20:10639589
| JAG1 | T1189M | Alagille syndrome due to a JAG1 point mutation | Likely benign (Aug 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr20:10620240
- GRCh38:
- Chr20:10639592
| JAG1 | G1188A | Alagille syndrome due to a JAG1 point mutation | Uncertain significance (Aug 24, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr20:10620241
- GRCh38:
- Chr20:10639593
| JAG1 | G1188S | Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation, Tetralogy of Fallot, Charcot-Marie-Tooth disease, axonal, Type 2HH, Deafness, congenital heart defects, and posterior embryotoxon | Conflicting interpretations of pathogenicity (Jul 26, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr20:10620242
- GRCh38:
- Chr20:10639594
| JAG1 | N1187K | Alagille syndrome due to a JAG1 point mutation | Uncertain significance (Mar 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr20:10620242
- GRCh38:
- Chr20:10639594
| JAG1 | | Cardiovascular phenotype, Alagille syndrome due to a JAG1 point mutation, not provided
| Likely benign (Sep 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:10620243
- GRCh38:
- Chr20:10639595
| JAG1 | N1187S | not provided, Alagille syndrome due to a JAG1 point mutation | Conflicting interpretations of pathogenicity (Jul 6, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr20:10620245
- GRCh38:
- Chr20:10639597
| JAG1 | | Cardiovascular phenotype | Likely benign (Dec 16, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr20:10620246
- GRCh38:
- Chr20:10639598
| JAG1 | P1186L | not provided | Uncertain significance (Aug 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr20:10620246
- GRCh38:
- Chr20:10639598
| JAG1 | P1186R | Alagille syndrome due to a JAG1 point mutation | Likely benign (Jul 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr20:10620248
- GRCh38:
- Chr20:10639600
| JAG1 | | Cardiovascular phenotype, Alagille syndrome due to a JAG1 point mutation, Isolated Nonsyndromic Congenital Heart Disease
| Benign/Likely benign (Oct 31, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:10620249
- GRCh38:
- Chr20:10639601
| JAG1 | P1185L | Alagille syndrome due to a JAG1 point mutation | Uncertain significance (Aug 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr20:10620259
- GRCh38:
- Chr20:10639611
| JAG1 | E1182K | Alagille syndrome due to a JAG1 point mutation | Uncertain significance (Feb 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr20:10620261
- GRCh38:
- Chr20:10639613
| JAG1 | R1181K | Alagille syndrome due to a JAG1 point mutation, Tetralogy of Fallot, Alagille syndrome due to a JAG1 point mutation, Charcot-Marie-Tooth disease, axonal, Type 2HH, Deafness, congenital heart defects, and posterior embryotoxon | Uncertain significance (Nov 29, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:10620263
- GRCh38:
- Chr20:10639615
| JAG1 | | Alagille syndrome due to a JAG1 point mutation | Likely benign (Jul 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr20:10620265
- GRCh38:
- Chr20:10639617
| JAG1 | D1180N | not provided, Cardiovascular phenotype | Uncertain significance (Aug 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:10620268
- GRCh38:
- Chr20:10639620
| JAG1 | V1179I | Alagille syndrome due to a JAG1 point mutation | Uncertain significance (Apr 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr20:10620269
- GRCh38:
- Chr20:10639621
| JAG1 | | Alagille syndrome due to a JAG1 point mutation | Likely benign (May 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr20:10620272
- GRCh38:
- Chr20:10639624
| JAG1 | | Alagille syndrome due to a JAG1 point mutation | Likely benign (Sep 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr20:10620272
- GRCh38:
- Chr20:10639624
| JAG1 | | Alagille syndrome due to a JAG1 point mutation | Likely benign (May 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr20:10620273
- GRCh38:
- Chr20:10639625
| JAG1 | T1177M | not provided, Alagille syndrome due to a JAG1 point mutation | Uncertain significance (Aug 31, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:10620275
- GRCh38:
- Chr20:10639627
| JAG1 | | Isolated Nonsyndromic Congenital Heart Disease, Cardiovascular phenotype, not specified, Tetralogy of Fallot, Alagille syndrome due to a JAG1 point mutation, Deafness, congenital heart defects, and posterior embryotoxon
| Benign (Sep 26, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:10620278
- GRCh38:
- Chr20:10639630
| JAG1 | | Cardiovascular phenotype, Alagille syndrome due to a JAG1 point mutation | Likely benign (Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:10620279
- GRCh38:
- Chr20:10639631
| JAG1 | A1175V | Cardiovascular phenotype, Alagille syndrome due to a JAG1 point mutation, not provided
| Conflicting interpretations of pathogenicity (Oct 4, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr20:10620280
- GRCh38:
- Chr20:10639632
| JAG1 | A1175T | Alagille syndrome due to a JAG1 point mutation | Uncertain significance (Sep 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr20:10620281
- GRCh38:
- Chr20:10639633
| JAG1 | | Alagille syndrome due to a JAG1 point mutation, not provided | Conflicting interpretations of pathogenicity (Oct 23, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr20:10620282
- GRCh38:
- Chr20:10639634
| JAG1 | P1174L | Isolated Nonsyndromic Congenital Heart Disease, not provided, Alagille syndrome due to a JAG1 point mutation
| Conflicting interpretations of pathogenicity (Feb 2, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr20:10620286
- GRCh38:
- Chr20:10639638
| JAG1 | Q1173K | not provided | Uncertain significance (Sep 20, 2017) | criteria provided, single submitter |