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Items: 1 to 100 of 164

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:
Chr20:1249947-8607558
GRCh38:
Chr20:1269303-8626911
ADAM33, ADISSP, ADRA1D, AP5S1, ATRN, AVP, BMP2, C20orf141, CASC20, CDC25B, CDS2, CENPB, CHGB, CPXM1, CRLS1, DDRGK1, DNAAF9, EBF4, FASTKD5, FERMT1, FKBP1A, FKBP1A-SDCBP2, GFRA4, GNRH2, GPCPD1, HAO1, HSPA12B, IDH3B, ITPA, LINC00654, LINC00658, LINC01428, LINC01433, LINC01706, LINC01713, LINC01729, LINC01730, LINC01751, LINC03086, LOC106799846, LOC107457602, LOC108178991, LOC108178992, LOC109363676, LOC109504727, LOC110120914, LOC111240478, LOC111240479, LOC111365169, LOC111365189, LOC112694697, LOC112694698, LOC112694699, LOC112694712, LOC112694713, LOC112694729, LOC113939991, LOC114004355, LOC116286200, LOC116286201, LOC116286202, LOC116286203, LOC121627891, LOC121852997, LOC121852998, LOC125384559, LOC125384560, LOC125384561, LOC125384562, LOC125384563, LOC125384564, LOC125384565, LOC125384566, LOC125384567, LOC125384568, LOC125384569, LOC125384570, LOC125384571, LOC125384572, LOC125384573, LOC125384574, LOC125384575, LOC126862949, LOC126862950, LOC126862951, LOC126862952, LOC126862953, LOC126862954, LOC126862955, LOC126862956, LOC126862957, LOC126862958, LOC126862959, LOC126862960, LOC126862961, LOC126862962, LOC126862963, LOC126862964, LOC126862965, LOC126862966, LOC126862967, LOC643406, LRRN4, LZTS3, MAVS, MCM8, MCM8-AS1, MIR103A2, MIR103B2, MIR1292, MIR6869, MIR8062, MRPS26, NOP56, NSFL1C, OXT, PANK2, PCED1A, PCNA, PCNA-AS1, PDYN, PDYN-AS1, PLCB1, PLCB1-IT1, PRND, PRNP, PRNT, PROKR2, PTPRA, RASSF2, RNF24, SDCBP2, SDCBP2-AS1, SHLD1, SIGLEC1, SIRPA, SIRPB1, SIRPB2, SIRPD, SIRPG, SIRPG-AS1, SLC23A2, SLC4A11, SMOX, SNORA51, SNORD110, SNORD119, SNORD56, SNORD57, SNORD86, SNPH, SNRPB, SPEF1, STK35, TGM3, TGM6, TMC2, TMEM230, TMEM239, TMX4, TMX4-AS1, TRMT6, UBOX5, UBOX5-AS1, VPS16, ZNF343
See casesPathogenic
(Oct 24, 2012)
no assertion criteria provided
10.
GRCh37:
Chr20:4323680-6892377
GRCh38:
Chr20:4343033-6911730
See casesPathogenic
(Jan 13, 2012)
no assertion criteria provided
11.
GRCh37:
Chr20:6166723-8784975
GRCh38:
Chr20:6186076-8804328
See casesUncertain significance
(Jan 3, 2012)
no assertion criteria provided
12.
GRCh37:
Chr20:6317254-8558193
GRCh38:
Chr20:6336607-8577546
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
13.
GRCh37:
Chr20:6598342-13373206
GRCh38:
Chr20:6617695-13392559
See casesPathogenic
(Nov 30, 2010)
no assertion criteria provided
14.
GRCh37:
Chr20:6750765-6750766
GRCh38:
Chr20:6770118-6770119
BMP2Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1Pathogenic
(Feb 15, 2021)
no assertion criteria provided
15.
GRCh37:
Chr20:6750774
GRCh38:
Chr20:6770127
BMP2M1Vnot providedUncertain significance
(Dec 12, 2017)
criteria provided, single submitter
16.
GRCh37:
Chr20:6750789
GRCh38:
Chr20:6770142
BMP2R6Cnot provided, Brachydactyly type A2Uncertain significance
(Jul 26, 2022)
criteria provided, multiple submitters, no conflicts
17.
GRCh37:
Chr20:6750816
GRCh38:
Chr20:6770169
BMP2Q15*not providedPathogenic
(Jun 5, 2018)
criteria provided, single submitter
18.
GRCh37:
Chr20:6750821
GRCh38:
Chr20:6770174
BMP2not providedLikely benign
(Aug 5, 2020)
criteria provided, single submitter
19.
GRCh37:
Chr20:6750841
GRCh38:
Chr20:6770194
BMP2G23Anot providedUncertain significance
(Aug 15, 2022)
criteria provided, single submitter
20.
GRCh37:
Chr20:6750852
GRCh38:
Chr20:6770205
BMP2E27*Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomaliesLikely pathogenic
(Oct 15, 2018)
criteria provided, single submitter
21.
GRCh37:
Chr20:6750860
GRCh38:
Chr20:6770213
BMP2not providedUncertain significance
(Jun 2, 2022)
criteria provided, single submitter
22.
GRCh37:
Chr20:6750860
GRCh38:
Chr20:6770213
BMP2not providedLikely benign
(Oct 19, 2022)
criteria provided, single submitter
23.
GRCh37:
Chr20:6750863
GRCh38:
Chr20:6770216
BMP2not providedLikely benign
(Dec 4, 2021)
criteria provided, single submitter
24.
GRCh37:
Chr20:6750872-6750873
GRCh38:
Chr20:6770225-6770226
BMP2not providedUncertain significance
(Oct 28, 2022)
criteria provided, single submitter
25.
GRCh37:
Chr20:6750873
GRCh38:
Chr20:6770226
BMP2A34Pnot providedUncertain significance
(Aug 12, 2022)
criteria provided, single submitter
26.
GRCh37:
Chr20:6750880
GRCh38:
Chr20:6770233
BMP2A36Vnot providedUncertain significance
(Oct 23, 2022)
criteria provided, single submitter
27.
GRCh37:
Chr20:6750882
GRCh38:
Chr20:6770235
BMP2S37Anot specified, not providedBenign
(Nov 3, 2022)
criteria provided, multiple submitters, no conflicts
28.
GRCh37:
Chr20:6750909
GRCh38:
Chr20:6770262
BMP2S46TInborn genetic diseasesUncertain significance
(Oct 27, 2022)
criteria provided, single submitter
29.
GRCh37:
Chr20:6750915
GRCh38:
Chr20:6770268
BMP2E48*not providedPathogenic
(Jun 27, 2022)
criteria provided, single submitter
30.
GRCh37:
Chr20:6750917
GRCh38:
Chr20:6770270
BMP2E48Dnot providedUncertain significance
(Sep 24, 2021)
criteria provided, single submitter
31.
GRCh37:
Chr20:6750923
GRCh38:
Chr20:6770276
BMP2not providedLikely benign
(Jun 20, 2022)
criteria provided, single submitter
32.
GRCh37:
Chr20:6750932
GRCh38:
Chr20:6770285
BMP2F53Lnot providedUncertain significance
(Dec 25, 2021)
criteria provided, single submitter
33.
GRCh37:
Chr20:6750945
GRCh38:
Chr20:6770298
BMP2L58Fnot providedUncertain significance
(Sep 30, 2021)
criteria provided, multiple submitters, no conflicts
34.
GRCh37:
Chr20:6750948
GRCh38:
Chr20:6770301
BMP2S59GInborn genetic diseasesUncertain significance
(Jun 21, 2022)
criteria provided, single submitter
35.
GRCh37:
Chr20:6750951
GRCh38:
Chr20:6770304
BMP2M60LHearing impairmentUncertain significance
(Oct 8, 2018)
no assertion criteria provided
36.
GRCh37:
Chr20:6750967-6750968
GRCh38:
Chr20:6770320-6770321
BMP2R66fsnot providedPathogenic
(Sep 2, 2021)
criteria provided, single submitter
37.
GRCh37:
Chr20:6750967
GRCh38:
Chr20:6770320
BMP2Q65Rnot providedUncertain significance
(Aug 26, 2021)
criteria provided, single submitter
38.
GRCh37:
Chr20:6750973
GRCh38:
Chr20:6770326
BMP2P67Rnot providedUncertain significance
(May 18, 2018)
criteria provided, single submitter
39.
GRCh37:
Chr20:6750992
GRCh38:
Chr20:6770345
BMP2not providedLikely benign
(Jul 18, 2022)
criteria provided, single submitter
40.
GRCh37:
Chr20:6751001
GRCh38:
Chr20:6770354
BMP2not providedLikely benign
(May 11, 2018)
criteria provided, single submitter
41.
GRCh37:
Chr20:6751002
GRCh38:
Chr20:6770355
BMP2P77Snot providedUncertain significance
(Feb 20, 2022)
criteria provided, single submitter
42.
GRCh37:
Chr20:6751003
GRCh38:
Chr20:6770356
BMP2P77Rnot providedUncertain significance
(Oct 5, 2022)
criteria provided, single submitter
43.
GRCh37:
Chr20:6751008
GRCh38:
Chr20:6770361
BMP2M79VInborn genetic diseasesUncertain significance
(Feb 28, 2019)
criteria provided, single submitter
44.
GRCh37:
Chr20:6751034
GRCh38:
Chr20:6770387
BMP2not specified, Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies, not provided
Benign
(Nov 4, 2022)
criteria provided, multiple submitters, no conflicts
45.
GRCh37:
Chr20:6751037
GRCh38:
Chr20:6770390
BMP2not providedLikely benign
(Oct 18, 2022)
criteria provided, single submitter
46.
GRCh37:
Chr20:6751038
GRCh38:
Chr20:6770391
BMP2Q89*not providedPathogenic
(Jun 9, 2022)
criteria provided, single submitter
47.
GRCh37:
Chr20:6751044
GRCh38:
Chr20:6770397
BMP2G91Cnot providedUncertain significance
(Oct 5, 2022)
criteria provided, single submitter
48.
GRCh37:
Chr20:6751048
GRCh38:
Chr20:6770401
BMP2S92*Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1Likely pathogenic
(Nov 18, 2022)
criteria provided, single submitter
49.
GRCh37:
Chr20:6751048
GRCh38:
Chr20:6770401
BMP2S92Lnot providedUncertain significance
(Aug 9, 2022)
criteria provided, multiple submitters, no conflicts
50.
GRCh37:
Chr20:6751052
GRCh38:
Chr20:6770405
BMP2not providedLikely benign
(Jan 6, 2022)
criteria provided, single submitter
51.
GRCh37:
Chr20:6751087
GRCh38:
Chr20:6770440
BMP2R105Qnot providedUncertain significance
(Mar 26, 2022)
criteria provided, single submitter
52.
GRCh37:
Chr20:6751089
GRCh38:
Chr20:6770442
BMP2A106Tnot providedUncertain significance
(Jun 28, 2021)
criteria provided, single submitter
53.
GRCh37:
Chr20:6751096
GRCh38:
Chr20:6770449
BMP2T108Inot providedUncertain significance
(Sep 20, 2022)
criteria provided, multiple submitters, no conflicts
54.
GRCh37:
Chr20:6751102
GRCh38:
Chr20:6770455
BMP2R110Hnot providedUncertain significance
(Apr 19, 2021)
criteria provided, single submitter
55.
GRCh37:
Chr20:6751121
GRCh38:
Chr20:6770474
BMP2not providedPathogenic
(Feb 5, 2022)
criteria provided, single submitter
56.
GRCh37:
Chr20:6751123
GRCh38:
Chr20:6770476
BMP2not providedUncertain significance
(Jul 15, 2022)
criteria provided, single submitter
57.
GRCh37:
Chr20:6751316
GRCh38:
Chr20:6770669
BMP2not providedBenign
(Oct 16, 2018)
criteria provided, single submitter
58.
GRCh37:
Chr20:6758915
GRCh38:
Chr20:6778268
BMP2T124AInborn genetic diseases, not providedUncertain significance
(Oct 6, 2022)
criteria provided, multiple submitters, no conflicts
59.
GRCh37:
Chr20:6758916
GRCh38:
Chr20:6778269
BMP2T124Mnot providedUncertain significance
(Oct 25, 2021)
criteria provided, single submitter
60.
GRCh37:
Chr20:6758919
GRCh38:
Chr20:6778272
BMP2S125Nnot providedLikely benign
(Oct 21, 2022)
criteria provided, single submitter
61.
GRCh37:
Chr20:6758937
GRCh38:
Chr20:6778290
BMP2R131Inot providedUncertain significance
(Aug 27, 2021)
criteria provided, single submitter
62.
GRCh37:
Chr20:6758938
GRCh38:
Chr20:6778291
BMP2R131Snot providedLikely benign
(Jun 8, 2022)
criteria provided, single submitter
63.
GRCh37:
Chr20:6758951
GRCh38:
Chr20:6778304
BMP2L136Inot providedUncertain significance
(Mar 28, 2022)
criteria provided, single submitter
64.
GRCh37:
Chr20:6758965
GRCh38:
Chr20:6778318
BMP2not providedLikely benign
(Jun 30, 2022)
criteria provided, single submitter
65.
GRCh37:
Chr20:6758967
GRCh38:
Chr20:6778320
BMP2T141Mnot providedUncertain significance
(Oct 7, 2022)
criteria provided, single submitter
66.
GRCh37:
Chr20:6758976
GRCh38:
Chr20:6778329
BMP2F144Snot providedUncertain significance
(Oct 7, 2022)
criteria provided, single submitter
67.
GRCh37:
Chr20:6758980
GRCh38:
Chr20:6778333
BMP2not providedLikely benign
(Oct 24, 2022)
criteria provided, single submitter
68.
GRCh37:
Chr20:6759003
GRCh38:
Chr20:6778356
BMP2F153Ynot providedUncertain significance
(Oct 12, 2021)
criteria provided, single submitter
69.
GRCh37:
Chr20:6759005
GRCh38:
Chr20:6778358
BMP2R154*Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies, not providedConflicting interpretations of pathogenicity
(Dec 17, 2021)
criteria provided, conflicting interpretations
70.
GRCh37:
Chr20:6759027
GRCh38:
Chr20:6778380
BMP2L161Snot providedUncertain significance
(Sep 24, 2021)
criteria provided, single submitter
71.
GRCh37:
Chr20:6759053
GRCh38:
Chr20:6778406
BMP2R170*not provided, Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomaliesPathogenic
(Nov 21, 2021)
criteria provided, multiple submitters, no conflicts
72.
GRCh37:
Chr20:6759054
GRCh38:
Chr20:6778407
BMP2R170Qnot providedUncertain significance
(Sep 24, 2021)
criteria provided, single submitter
73.
GRCh37:
Chr20:6759084
GRCh38:
Chr20:6778437
BMP2A180Vnot providedUncertain significance
(Sep 28, 2022)
criteria provided, single submitter
74.
GRCh37:
Chr20:6759097
GRCh38:
Chr20:6778450
BMP2not provided, not specifiedBenign/Likely benign
(Aug 5, 2022)
criteria provided, multiple submitters, no conflicts
75.
GRCh37:
Chr20:6759101
GRCh38:
Chr20:6778454
BMP2F186LInborn genetic diseases, not providedUncertain significance
(May 11, 2022)
criteria provided, multiple submitters, no conflicts
76.
GRCh37:
Chr20:6759106
GRCh38:
Chr20:6778459
BMP2not providedConflicting interpretations of pathogenicity
(Oct 13, 2022)
criteria provided, conflicting interpretations
77.
GRCh37:
Chr20:6759115
GRCh38:
Chr20:6778468
BMP2R190Snot specified, not provided, Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies
Benign
(Nov 4, 2022)
criteria provided, multiple submitters, no conflicts
78.
GRCh37:
Chr20:6759157-6759169
GRCh38:
Chr20:6778510-6778522
BMP2E205fsnot providedLikely pathogenic
(Jul 1, 2019)
criteria provided, single submitter
79.
GRCh37:
Chr20:6759158
GRCh38:
Chr20:6778511
BMP2E205*not providedPathogenic
(Sep 9, 2022)
criteria provided, single submitter
80.
GRCh37:
Chr20:6759175
GRCh38:
Chr20:6778528
BMP2not specified, not providedLikely benign
(Jul 11, 2022)
criteria provided, multiple submitters, no conflicts
81.
GRCh37:
Chr20:6759177
GRCh38:
Chr20:6778530
BMP2P211Rnot providedUncertain significance
(Oct 28, 2022)
criteria provided, single submitter
82.
GRCh37:
Chr20:6759178
GRCh38:
Chr20:6778531
BMP2not providedLikely benign
(Dec 20, 2017)
criteria provided, single submitter
83.
GRCh37:
Chr20:6759189
GRCh38:
Chr20:6778542
BMP2R215Qnot providedUncertain significance
(Apr 30, 2022)
criteria provided, single submitter
84.
GRCh37:
Chr20:6759199
GRCh38:
Chr20:6778552
BMP2not providedLikely benign
(Jul 5, 2022)
criteria provided, single submitter
85.
GRCh37:
Chr20:6759207
GRCh38:
Chr20:6778560
BMP2H221Rnot providedUncertain significance
(Aug 24, 2021)
criteria provided, single submitter
86.
GRCh37:
Chr20:6759208
GRCh38:
Chr20:6778561
BMP2not providedLikely benign
(Jul 5, 2022)
criteria provided, single submitter
87.
GRCh37:
Chr20:6759209
GRCh38:
Chr20:6778562
BMP2A222Tnot providedUncertain significance
(Sep 6, 2022)
criteria provided, single submitter
88.
GRCh37:
Chr20:6759226
GRCh38:
Chr20:6778579
BMP2not providedLikely benign
(Jul 25, 2022)
criteria provided, single submitter
89.
GRCh37:
Chr20:6759227
GRCh38:
Chr20:6778580
BMP2V228LInborn genetic diseasesUncertain significance
(Feb 27, 2023)
criteria provided, single submitter
90.
GRCh37:
Chr20:6759227
GRCh38:
Chr20:6778580
BMP2V228Mnot providedUncertain significance
(Aug 31, 2021)
criteria provided, single submitter
91.
GRCh37:
Chr20:6759230
GRCh38:
Chr20:6778583
BMP2E229*not providedPathogenic
(Jan 18, 2022)
criteria provided, single submitter
92.
GRCh37:
Chr20:6759232
GRCh38:
Chr20:6778585
BMP2not providedLikely benign
(Oct 10, 2022)
criteria provided, single submitter
93.
GRCh37:
Chr20:6759246
GRCh38:
Chr20:6778599
BMP2E234Gnot providedUncertain significance
(Sep 27, 2022)
criteria provided, single submitter
94.
GRCh37:
Chr20:6759250
GRCh38:
Chr20:6778603
BMP2E235Dnot provided, Inborn genetic diseasesUncertain significance
(Jan 18, 2023)
criteria provided, multiple submitters, no conflicts
95.
GRCh37:
Chr20:6759266
GRCh38:
Chr20:6778619
BMP2K241*PDA1Uncertain significanceno assertion criteria provided
96.
GRCh37:
Chr20:6759299
GRCh38:
Chr20:6778652
BMP2Q252*not providedPathogenic
(Jul 12, 2022)
criteria provided, single submitter
97.
GRCh37:
Chr20:6759306
GRCh38:
Chr20:6778659
BMP2E254Gnot providedUncertain significance
(Apr 2, 2020)
criteria provided, single submitter
98.
GRCh37:
Chr20:6759331
GRCh38:
Chr20:6778684
BMP2not providedLikely benign
(Jul 29, 2022)
criteria provided, single submitter
99.
GRCh37:
Chr20:6759332
GRCh38:
Chr20:6778685
BMP2L263MInborn genetic diseasesUncertain significance
(Feb 6, 2023)
criteria provided, single submitter
100.
GRCh37:
Chr20:6759333
GRCh38:
Chr20:6778686
BMP2L263Snot providedUncertain significance
(Dec 12, 2019)
criteria provided, single submitter
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