U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 1 to 100 of 1525

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
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 casesPathogenic
(May 7, 2012)
no assertion criteria provided
2.
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 casesPathogenic
(Apr 30, 2010)
no assertion criteria provided
3.
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 casesPathogenic
(Aug 1, 2014)
no assertion criteria provided
4.
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 casesPathogenic
(Sep 27, 2013)
no assertion criteria provided
5.
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 casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
6.
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 casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
7.
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 casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
8.
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 casesPathogenic
(Oct 19, 2010)
no assertion criteria provided
9.
GRCh37:
Chr20:6598342-13373206
GRCh38:
Chr20:6617695-13392559
See casesPathogenic
(Nov 30, 2010)
no assertion criteria provided
10.
GRCh37:
Chr20:7547291-11009342
GRCh38:
Chr20:7566644-11028694
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
11.
GRCh37:
Chr20:9271259-14629182
GRCh38:
Chr20:9290612-14648536
See casesUncertain significance
(Jan 3, 2012)
no assertion criteria provided
12.
GRCh37:
Chr20:9531622-12064082
GRCh38:
Chr20:9550975-12083434
See casesPathogenic
(Nov 30, 2010)
no assertion criteria provided
13.
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 casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
14.
GRCh37:
Chr20:10234257-10654198
GRCh38:
Chr20:10253609-10673550
Alagille syndrome due to a JAG1 point mutationPathogenic
(Dec 23, 2019)
criteria provided, single submitter
15.
GRCh37:
Chr20:10618478
GRCh38:
Chr20:10637830
JAG1Isolated Nonsyndromic Congenital Heart DiseaseUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
16.
GRCh37:
Chr20:10618509
GRCh38:
Chr20:10637861
JAG1Isolated Nonsyndromic Congenital Heart DiseaseUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
17.
GRCh37:
Chr20:10618534
GRCh38:
Chr20:10637886
JAG1Isolated Nonsyndromic Congenital Heart DiseaseUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
18.
GRCh37:
Chr20:10618574
GRCh38:
Chr20:10637926
JAG1Isolated Nonsyndromic Congenital Heart Disease, not providedBenign
(Apr 28, 2020)
criteria provided, multiple submitters, no conflicts
19.
GRCh37:
Chr20:10618595
GRCh38:
Chr20:10637947
JAG1not provided, Isolated Nonsyndromic Congenital Heart DiseaseConflicting interpretations of pathogenicity
(May 1, 2022)
criteria provided, conflicting interpretations
20.
GRCh37:
Chr20:10618612-10618613
GRCh38:
Chr20:10637964-10637965
JAG1Arteriohepatic dysplasia, Isolated Nonsyndromic Congenital Heart DiseaseUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
21.
GRCh37:
Chr20:10618634-10618635
GRCh38:
Chr20:10637986-10637987
JAG1Isolated Nonsyndromic Congenital Heart DiseaseLikely benign
(Jun 14, 2016)
criteria provided, single submitter
22.
GRCh37:
Chr20:10618653
GRCh38:
Chr20:10638005
JAG1Isolated Nonsyndromic Congenital Heart DiseaseBenign
(Jan 13, 2018)
criteria provided, single submitter
23.
GRCh37:
Chr20:10618706
GRCh38:
Chr20:10638058
JAG1Isolated Nonsyndromic Congenital Heart DiseaseUncertain significance
(Mar 30, 2018)
criteria provided, single submitter
24.
GRCh37:
Chr20:10618922
GRCh38:
Chr20:10638274
JAG1Isolated Nonsyndromic Congenital Heart DiseaseUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
25.
GRCh37:
Chr20:10618932-10618934
GRCh38:
Chr20:10638284-10638286
JAG1Arteriohepatic dysplasia, Isolated Nonsyndromic Congenital Heart DiseaseUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
26.
GRCh37:
Chr20:10618940
GRCh38:
Chr20:10638292
JAG1Isolated Nonsyndromic Congenital Heart DiseaseBenign
(Jun 14, 2016)
criteria provided, single submitter
27.
GRCh37:
Chr20:10619010-10619013
GRCh38:
Chr20:10638362-10638365
JAG1Arteriohepatic dysplasia, Isolated Nonsyndromic Congenital Heart DiseaseUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
28.
GRCh37:
Chr20:10619014
GRCh38:
Chr20:10638366
JAG1Isolated Nonsyndromic Congenital Heart DiseaseBenign
(Jan 13, 2018)
criteria provided, single submitter
29.
GRCh37:
Chr20:10619049-10619053
GRCh38:
Chr20:10638401-10638405
JAG1Arteriohepatic dysplasia, Isolated Nonsyndromic Congenital Heart DiseaseUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
30.
GRCh37:
Chr20:10619062
GRCh38:
Chr20:10638414
JAG1Isolated Nonsyndromic Congenital Heart DiseaseBenign
(Jan 13, 2018)
criteria provided, single submitter
31.
GRCh37:
Chr20:10619176
GRCh38:
Chr20:10638528
JAG1Isolated Nonsyndromic Congenital Heart DiseaseUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
32.
GRCh37:
Chr20:10619176-10619179
GRCh38:
Chr20:10638528-10638531
JAG1Arteriohepatic dysplasia, Isolated Nonsyndromic Congenital Heart DiseaseUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
33.
GRCh37:
Chr20:10619232
GRCh38:
Chr20:10638584
JAG1Isolated Nonsyndromic Congenital Heart DiseaseUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
34.
GRCh37:
Chr20:10619265
GRCh38:
Chr20:10638617
JAG1Isolated Nonsyndromic Congenital Heart DiseaseUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
35.
GRCh37:
Chr20:10619289-10619290
GRCh38:
Chr20:10638641-10638642
JAG1Isolated Nonsyndromic Congenital Heart DiseaseBenign
(Jun 14, 2016)
criteria provided, single submitter
36.
GRCh37:
Chr20:10619390
GRCh38:
Chr20:10638742
JAG1Isolated Nonsyndromic Congenital Heart DiseaseBenign
(Jan 12, 2018)
criteria provided, single submitter
37.
GRCh37:
Chr20:10619497-10619499
GRCh38:
Chr20:10638849-10638851
JAG1Arteriohepatic dysplasia, Isolated Nonsyndromic Congenital Heart DiseaseUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
38.
GRCh37:
Chr20:10619505
GRCh38:
Chr20:10638857
JAG1Isolated Nonsyndromic Congenital Heart DiseaseUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
39.
GRCh37:
Chr20:10619527
GRCh38:
Chr20:10638879
JAG1Isolated Nonsyndromic Congenital Heart DiseaseBenign
(Jan 12, 2018)
criteria provided, single submitter
40.
GRCh37:
Chr20:10619559
GRCh38:
Chr20:10638911
JAG1Isolated Nonsyndromic Congenital Heart DiseaseUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
41.
GRCh37:
Chr20:10619581-10619583
GRCh38:
Chr20:10638933-10638935
JAG1Isolated Nonsyndromic Congenital Heart DiseaseLikely benign
(Jun 14, 2016)
criteria provided, single submitter
42.
GRCh37:
Chr20:10619625
GRCh38:
Chr20:10638977
JAG1Isolated Nonsyndromic Congenital Heart DiseaseUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
43.
GRCh37:
Chr20:10619660
GRCh38:
Chr20:10639012
JAG1Isolated Nonsyndromic Congenital Heart DiseaseBenign
(Jun 14, 2016)
criteria provided, single submitter
44.
GRCh37:
Chr20:10619745
GRCh38:
Chr20:10639097
JAG1Isolated Nonsyndromic Congenital Heart DiseaseUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
45.
GRCh37:
Chr20:10619748
GRCh38:
Chr20:10639100
JAG1Isolated Nonsyndromic Congenital Heart DiseaseUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
46.
GRCh37:
Chr20:10619768
GRCh38:
Chr20:10639120
JAG1Isolated Nonsyndromic Congenital Heart DiseaseUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
47.
GRCh37:
Chr20:10619849
GRCh38:
Chr20:10639201
JAG1Isolated Nonsyndromic Congenital Heart DiseaseUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
48.
GRCh37:
Chr20:10619893
GRCh38:
Chr20:10639245
JAG1Arteriohepatic dysplasia, Isolated Nonsyndromic Congenital Heart DiseaseUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
49.
GRCh37:
Chr20:10620125
GRCh38:
Chr20:10639477
JAG1Isolated Nonsyndromic Congenital Heart DiseaseLikely benign
(Jan 13, 2018)
criteria provided, single submitter
50.
GRCh37:
Chr20:10620128
GRCh38:
Chr20:10639480
JAG1Isolated Nonsyndromic Congenital Heart DiseaseUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
51.
GRCh37:
Chr20:10620137
GRCh38:
Chr20:10639489
JAG1not providedUncertain significance
(Mar 21, 2018)
criteria provided, single submitter
52.
GRCh37:
Chr20:10620139
GRCh38:
Chr20:10639491
JAG1not providedUncertain significance
(Aug 14, 2018)
criteria provided, single submitter
53.
GRCh37:
Chr20:10620140
GRCh38:
Chr20:10639492
JAG1Isolated Nonsyndromic Congenital Heart DiseaseBenign
(Jan 12, 2018)
criteria provided, single submitter
54.
GRCh37:
Chr20:10620144
GRCh38:
Chr20:10639496
JAG1not specifiedLikely benign
(Feb 16, 2016)
criteria provided, single submitter
55.
GRCh37:
Chr20:10620150
GRCh38:
Chr20:10639502
JAG1V1218ECardiovascular phenotypeUncertain significance
(Feb 17, 2022)
criteria provided, single submitter
56.
GRCh37:
Chr20:10620151
GRCh38:
Chr20:10639503
JAG1V1218ICardiovascular 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
57.
GRCh37:
Chr20:10620152
GRCh38:
Chr20:10639504
JAG1Isolated 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
58.
GRCh37:
Chr20:10620159
GRCh38:
Chr20:10639511
JAG1E1215AInborn genetic diseasesUncertain significance
(Dec 16, 2022)
criteria provided, single submitter
59.
GRCh37:
Chr20:10620165
GRCh38:
Chr20:10639517
JAG1R1213LAlagille syndrome due to a JAG1 point mutationUncertain significance
(Aug 26, 2021)
criteria provided, single submitter
60.
GRCh37:
Chr20:10620165
GRCh38:
Chr20:10639517
JAG1R1213Qnot 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
61.
GRCh37:
Chr20:10620166
GRCh38:
Chr20:10639518
JAG1R1213*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
62.
GRCh37:
Chr20:10620180
GRCh38:
Chr20:10639532
JAG1A1208VAlagille syndrome due to a JAG1 point mutationUncertain significance
(May 12, 2022)
criteria provided, single submitter
63.
GRCh37:
Chr20:10620183
GRCh38:
Chr20:10639535
JAG1S1207NAlagille syndrome due to a JAG1 point mutationUncertain significance
(Mar 17, 2022)
criteria provided, single submitter
64.
GRCh37:
Chr20:10620212
GRCh38:
Chr20:10639564
JAG1Alagille syndrome due to a JAG1 point mutationLikely benign
(Aug 15, 2022)
criteria provided, single submitter
65.
GRCh37:
Chr20:10620214
GRCh38:
Chr20:10639566
JAG1T1197AAlagille syndrome due to a JAG1 point mutationLikely benign
(Oct 18, 2022)
criteria provided, single submitter
66.
GRCh37:
Chr20:10620220
GRCh38:
Chr20:10639572
JAG1N1195DInborn genetic diseases, not specified, Alagille syndrome due to a JAG1 point mutation
Conflicting interpretations of pathogenicity
(Jul 12, 2022)
criteria provided, conflicting interpretations
67.
GRCh37:
Chr20:10620222
GRCh38:
Chr20:10639574
JAG1P1194LCardiovascular phenotypeUncertain significance
(Aug 7, 2021)
criteria provided, single submitter
68.
GRCh37:
Chr20:10620224
GRCh38:
Chr20:10639576
JAG1H1193QCardiovascular phenotypeUncertain significance
(Feb 11, 2022)
criteria provided, single submitter
69.
GRCh37:
Chr20:10620226
GRCh38:
Chr20:10639578
JAG1H1193YAlagille syndrome due to a JAG1 point mutationBenign
(May 25, 2022)
criteria provided, single submitter
70.
GRCh37:
Chr20:10620230
GRCh38:
Chr20:10639582
JAG1Alagille syndrome due to a JAG1 point mutationLikely benign
(Dec 14, 2020)
criteria provided, single submitter
71.
GRCh37:
Chr20:10620233
GRCh38:
Chr20:10639585
JAG1Cardiovascular 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
72.
GRCh37:
Chr20:10620234
GRCh38:
Chr20:10639586
JAG1P1190LInborn genetic diseasesUncertain significance
(Oct 3, 2022)
criteria provided, single submitter
73.
GRCh37:
Chr20:10620236
GRCh38:
Chr20:10639588
JAG1Cardiovascular 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
74.
GRCh37:
Chr20:10620237
GRCh38:
Chr20:10639589
JAG1T1189MAlagille syndrome due to a JAG1 point mutationLikely benign
(Aug 23, 2022)
criteria provided, single submitter
75.
GRCh37:
Chr20:10620240
GRCh38:
Chr20:10639592
JAG1G1188AAlagille syndrome due to a JAG1 point mutationUncertain significance
(Aug 24, 2021)
criteria provided, single submitter
76.
GRCh37:
Chr20:10620241
GRCh38:
Chr20:10639593
JAG1G1188SAlagille 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
77.
GRCh37:
Chr20:10620242
GRCh38:
Chr20:10639594
JAG1N1187KAlagille syndrome due to a JAG1 point mutationUncertain significance
(Mar 9, 2022)
criteria provided, single submitter
78.
GRCh37:
Chr20:10620242
GRCh38:
Chr20:10639594
JAG1Cardiovascular phenotype, Alagille syndrome due to a JAG1 point mutation, not provided
Likely benign
(Sep 5, 2022)
criteria provided, multiple submitters, no conflicts
79.
GRCh37:
Chr20:10620243
GRCh38:
Chr20:10639595
JAG1N1187Snot provided, Alagille syndrome due to a JAG1 point mutationConflicting interpretations of pathogenicity
(Jul 6, 2022)
criteria provided, conflicting interpretations
80.
GRCh37:
Chr20:10620245
GRCh38:
Chr20:10639597
JAG1Cardiovascular phenotypeLikely benign
(Dec 16, 2020)
criteria provided, single submitter
81.
GRCh37:
Chr20:10620246
GRCh38:
Chr20:10639598
JAG1P1186Lnot providedUncertain significance
(Aug 30, 2022)
criteria provided, single submitter
82.
GRCh37:
Chr20:10620246
GRCh38:
Chr20:10639598
JAG1P1186RAlagille syndrome due to a JAG1 point mutationLikely benign
(Jul 12, 2022)
criteria provided, single submitter
83.
GRCh37:
Chr20:10620248
GRCh38:
Chr20:10639600
JAG1Cardiovascular 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
84.
GRCh37:
Chr20:10620249
GRCh38:
Chr20:10639601
JAG1P1185LAlagille syndrome due to a JAG1 point mutationUncertain significance
(Aug 29, 2022)
criteria provided, single submitter
85.
GRCh37:
Chr20:10620259
GRCh38:
Chr20:10639611
JAG1E1182KAlagille syndrome due to a JAG1 point mutationUncertain significance
(Feb 25, 2022)
criteria provided, single submitter
86.
GRCh37:
Chr20:10620261
GRCh38:
Chr20:10639613
JAG1R1181KAlagille 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
87.
GRCh37:
Chr20:10620263
GRCh38:
Chr20:10639615
JAG1Alagille syndrome due to a JAG1 point mutationLikely benign
(Jul 19, 2022)
criteria provided, single submitter
88.
GRCh37:
Chr20:10620265
GRCh38:
Chr20:10639617
JAG1D1180Nnot provided, Cardiovascular phenotypeUncertain significance
(Aug 27, 2022)
criteria provided, multiple submitters, no conflicts
89.
GRCh37:
Chr20:10620268
GRCh38:
Chr20:10639620
JAG1V1179IAlagille syndrome due to a JAG1 point mutationUncertain significance
(Apr 24, 2022)
criteria provided, single submitter
90.
GRCh37:
Chr20:10620269
GRCh38:
Chr20:10639621
JAG1Alagille syndrome due to a JAG1 point mutationLikely benign
(May 28, 2022)
criteria provided, single submitter
91.
GRCh37:
Chr20:10620272
GRCh38:
Chr20:10639624
JAG1Alagille syndrome due to a JAG1 point mutationLikely benign
(Sep 6, 2022)
criteria provided, single submitter
92.
GRCh37:
Chr20:10620272
GRCh38:
Chr20:10639624
JAG1Alagille syndrome due to a JAG1 point mutationLikely benign
(May 22, 2022)
criteria provided, single submitter
93.
GRCh37:
Chr20:10620273
GRCh38:
Chr20:10639625
JAG1T1177Mnot provided, Alagille syndrome due to a JAG1 point mutationUncertain significance
(Aug 31, 2021)
criteria provided, multiple submitters, no conflicts
94.
GRCh37:
Chr20:10620275
GRCh38:
Chr20:10639627
JAG1Isolated 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
95.
GRCh37:
Chr20:10620278
GRCh38:
Chr20:10639630
JAG1Cardiovascular phenotype, Alagille syndrome due to a JAG1 point mutationLikely benign
(Nov 1, 2022)
criteria provided, multiple submitters, no conflicts
96.
GRCh37:
Chr20:10620279
GRCh38:
Chr20:10639631
JAG1A1175VCardiovascular phenotype, Alagille syndrome due to a JAG1 point mutation, not provided
Conflicting interpretations of pathogenicity
(Oct 4, 2022)
criteria provided, conflicting interpretations
97.
GRCh37:
Chr20:10620280
GRCh38:
Chr20:10639632
JAG1A1175TAlagille syndrome due to a JAG1 point mutationUncertain significance
(Sep 1, 2021)
criteria provided, single submitter
98.
GRCh37:
Chr20:10620281
GRCh38:
Chr20:10639633
JAG1Alagille syndrome due to a JAG1 point mutation, not providedConflicting interpretations of pathogenicity
(Oct 23, 2022)
criteria provided, conflicting interpretations
99.
GRCh37:
Chr20:10620282
GRCh38:
Chr20:10639634
JAG1P1174LIsolated 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
100.
GRCh37:
Chr20:10620286
GRCh38:
Chr20:10639638
JAG1Q1173Knot providedUncertain significance
(Sep 20, 2017)
criteria provided, single submitter
Format
Items per page
Sort by
Choose Destination