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VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr19:48411797-59051332
GRCh38:
Chr19:47908540-58539965
ZNF671, MIR371B, MIR519B, MIR125A, ZSCAN18, LENG8, PRMT1, LMTK3, TFPT, LOC117125601, LIG1, ZNF544, SNORD88C, NLRP5, CARD8-AS1, MIR515-1, SNAR-A5, SIGLEC9, PLA2G4C, MIR520F, BSPH1, CEACAM18, PPP1R12C, ERVK3-1, A1BG-AS1, ZNF416, SNORD33, MIR1283-2, ZNF610, ZNF470, LOC119369037, AKT1S1, ZSCAN5A, NTN5, MIMT1, ZNF649-AS1, LOC107983998, PTOV1-AS2, LOC119369028, MYADM, LAIR1, C19orf85, CCDC106, ZNF580, LILRA6, CTU1, IL11, UBE2S, ZNF611, PPP2R1A, ZNF816, TARM1, EPS8L1, SNAR-C3, ZNF577, PNKP, MIR935, VN1R1, LILRB5, FAM83E, MIR1283-1, BCAT2, LOC112553116, SIGLEC11, LIN7B, ZNF579, LOC112552172, MIR6801, RPL13A, SNAR-A10, SLC6A16, CD37, LOC112577453, LOC112553119, SNAR-A9, LIM2, SIGLEC8, KLK14, RDH13, LINC02560, FPR2, PLA2G4C-AS1, SNORD88B, TBC1D17, MIR518F, ZNF582-DT, MIR4754, ZNF805, AURKC, SNAR-A2, LOC112552177, MIR512-2, LOC112552168, LILRB3, MIR521-2, ZNF471, LOC112552173, LOC112577454, MIR519A2, COX6B2, LOC117125600, CGB3, ZNF677, IZUMO2, LINC01869, KIR3DL3, ERVFRD-2, LOC116286196, MIR8074, MIR522, ZNF329, GRIN2D, ACP4, RPL28, ZNF460-AS1, TTYH1, MIR6803, MIR526A1, ZNF28, ZNF534, TMEM190, MIR498, ZNF418, ZNF667-AS1, CARD8, NTF4, LOC101928295, KDELR1, GALP, MIR520B, CACNG8, CACNG7, ZNF813, KMT5C, MIR520H, IZUMO1, GP6, LOC119369035, LILRB2, DPRX, KCNJ14, MIR6804, PRR12, SIGLEC16, DBP, MIR526B, MIR518D, MIR371A, ZSCAN5C, NDUFA3, ERVV-1, ZNF8, SNAR-C5, MIR4749, ZNF17, CPT1C, NLRP11, MIR10394, MIR518C, ZNF667, ZNF350, SNAR-C2, FGF21, KLK2, ZNF473, RFPL4A, MIR518A1, PPP1R15A, FCAR, ZNF256, BRSK1, MIR6798, ZNF606, LOC112553117, NAT14, KASH5, SBK2, LOC112552178, PEG3, SMIM17, PIH1D1, SNAR-B2, NR1H2, ZNF837, ZNF836, ZNF766, LAIR2, SNAR-A7, ZNF524, KLK4, MIR6805, ZNF814, LENG9, ZNF71, KLK10, SNRNP70, SNAR-A13, ZBTB45, MIR518B, SIGLEC10, KCNC3, ZNF583, PTPRH, LOC119369032, MIR4751, KIR3DL1, LOC105372480, ZNF83, FCGRT, LOC119369031, ZSCAN5B, LOC121852994, LOC117125602, LOC121627886, EPN1, SBK3, CGB2, FPR3, VSTM1, ZNF432, MBOAT7, CD33, LOC116286192, LOC400710, TMC4, MYADM-AS1, ZNF845, LILRA1, VSIG10L, ODAD1, LILRA4, TEAD2, SNAR-C1, MIR517C, SNORD88A, ZNF497, GYS1, MAMSTR, KLK9, MIR518E, ISOC2, LOC121627884, ZNF615, SIGLEC5, MIR1323, RUVBL2, LOC119369036, MIR527, ZNF8-ERVK3-1, LOC107198088, LOC121627888, SNAR-G2, MIR6806, RPS5, MIR7975, ZNF480, MIR521-1, ZNF765-ZNF761, PPP6R1, KLK8, MIR150, FUT1, JOSD2, LILRB4, ZNF132, TNNT1, KLK13, NUCB1-AS1, IGLON5, C19orf73, ZNF460, ZSCAN22, CA11, TSKS, MIR512-1, ZNF816-ZNF321P, ZNF616, LOC122539214, ZIM2-AS1, LOC116286197, KLK1, SNORD35B, ZNF417, SNAR-A8, VN1R4, TNNI3, KIR3DL2, LENG1, RPS11, SHANK1, ZNF547, SLC17A7, CGB1, FUZ, ZNF160, LOC121852991, MIR519C, EDDM13, SIGLEC10-AS1, EMC10, ZNF528, SHISA7, ZNF552, SIGLEC12, ZNF468, ZIM2, ZNF551, ZNF446, LOC107198089, NLRP4, ZNF274, MIR523, SNAR-C4, GFY, MIR520E, ZNF154, LOC116286193, ZNF549, MIR99B, TRPM4, SNAR-A4, NLRP2, GPR32, RRAS, ZNF497-AS1, NAPSA, OSCAR, SNAR-B1, MIR4324, SYT3, ZNF548, DHDH, RPS9, ZNF581, DKKL1, ZNF550, SIGLEC6, LOC119369030, LOC116286195, ZNF578, PEG3-AS1, LENG8-AS1, MIR517A, NLRP12, LOC112553113, FIZ1, TMEM150B, MIR5088, MIR520D, SNORD157, MIR520C, CACNG6, ZNF415, SNAR-G1, ZNF528-AS1, SNAR-F, ZNF175, ZNF543, ZNF772, LOC117125599, SNAR-A11, LOC112552169, MIR8061, LINC01864, FUT2, ASPDH, EMP3, ZNF331, ZNF211, LOC106128906, ZNF776, SNAR-D, LOC111811967, PLEKHA4, CABP5, CGB8, LILRA5, ZSCAN1, KIR2DL1, PPFIA3, LOC121852992, KLK3, PTOV1, LOC121627885, LHB, MIR516A1, MIR518A2, LOC121627887, KLK11, PTH2, NUP62, MIR526A2, MIR519A1, ZNF419, TMEM86B, ZNF761, ZNF865, NUCB1, LOC121627889, ZSWIM9, USP29, CLDND2, ZNF787, ZNF8-DT, TMEM238, LRRC4B, BCL2L12, MIR516A2, ZNF444, NKG7, SCAF1, ZNF614, CDC42EP5, SNAR-A14, LOC119369033, FTL, LOC112553112, ZNF114, LOC116286194, MIR520A, PTOV1-AS1, LOC119369034, SNORD32A, NLRP9, LOC112552171, SPACA6-AS1, MIR520G, LOC119369029, NLRP8, C19orf81, TRAPPC2B, SNORD35A, LOC112553118, ERVV-2, MIR519D, ZFP28, KLK15, GARIN5A, LINC01530, C19orf18, HSD17B14, SNAR-A3, IL4I1, FLT3LG, LOC111721713, ZNF613, RNF225, LOC111828494, U2AF2, BAX, LOC101928517, MIR525, ZNF135, ZNF324B, LOC113939975, ZNF530, SNAR-A1, SIGLECL1, ZIM3, CYTH2, SPIB, MYBPC2, ADM5, SNAR-A6, PRPF31, ZNF347, NOSIP, ZNF584, LOC112552170, MIRLET7E, ALDH16A1, LOC105447645, ZNF841, ATF5, ZNF773, MIR4752, LOC109279247, A1BG, ZNF264, DUXA, RCN3, MIR519E, ZNF134, MIR6799, ETFB, HRC, ZNF888, SNORD34, LILRB1, LOC106128905, KIR2DL3, MIR6802, LOC105372440, KCNA7, MIR643, RASIP1, MIR373, SIGLEC7, MIR515-2, KIR2DL4, LOC105372441, CLEC11A, ZIK1, GARIN5B, MIR6800, ZNF324, SPHK2, TMEM143, ZNF765, ZNF880, HAS1, VN1R2, ZNF587, NCR1, POLD1, AP2A1, SULT2B1, HSPBP1, SPACA6, MIR372, RFPL4AL1, IRF3, ZNF304, ZNF71-SMIM17, ZNF320, C19orf84, LOC112553114, ZNF665, MIR516B1, ZSCAN4, MIR524, RPL18, ZNF582, ZNF749, LOC101059948, FPR1, TSEN34, KLK7, PRRG2, TULP2, ZNF835, CNOT3, NLRP13, PRKCG, ZNF784, ELSPBP1, SLC27A5, KLK5, DNAAF3, SYNGR4, ZNF587B, LOC112577452, MIR516B2, SYT5, LOC100128398, ZNF649, CGB7, MIR4750, CGB5, KIR2DS4, ZNF701, LOC112553115, ZNF350-AS1, MIR517B, ZNF586, ZNF628, LILRA2, LOC119369027, SPACA4, ZNF525, LOC101928804, ZFP28-DT, KLK6, LINC01872, ZNF600, GRWD1, MED25, SIGLEC14, MYH14, SSC5D, VRK3, ZNF808, NLRP7, LOC121852993, KLK12
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000059116
2.
GRCh37:
Chr19:48432832-59083573
GRCh38:
Chr19:47929575-58572206
ZNF419, LOC112552173, MIR519C, LINC02560, MIR515-2, KASH5, SNAR-G1, ZNF761, ZNF835, MIR518E, LOC105372440, RCN3, FPR2, LENG9, MIR4752, MIR372, FCAR, LHB, FPR1, SNAR-C3, DBP, SIGLEC8, A1BG, ZNF614, RPS11, ZNF8, ALDH16A1, U2AF2, SNORD88B, ZNF432, MAMSTR, UBE2M, SNORD33, GALP, UBE2S, EDDM13, LOC100128398, SNAR-A2, DHDH, LENG8-AS1, ZNF211, NLRP5, PPFIA3, ADM5, SULT2B1, FUT2, LOC112577453, ZNF83, PPP1R15A, ZNF816-ZNF321P, ZNF616, SCAF1, MIR4324, KIR3DL3, MIR99B, PTPRH, ZNF582, KIR2DL3, PEG3-AS1, ZNF347, CCDC106, ZFP28, IZUMO2, LOC105372441, TMEM150B, ZNF28, SNAR-F, LOC119369036, ZNF530, CDC42EP5, MIR520C, MIR6798, KIR2DL4, MIR1283-1, MIR521-1, ZNF600, MIR524, LILRB2, LOC119369029, CGB3, TFPT, LOC121852991, SYT5, TTYH1, LOC105372480, NLRP2, CACNG7, SPACA4, ZNF615, KLK9, IL4I1, LIG1, LOC112553113, ZSCAN1, MIR516B2, LOC107198089, PPP6R1, LOC101928804, GP6, ZNF324, ZNF329, SNORD35B, PRRG2, KDELR1, ZNF606, CLEC11A, ZNF534, C19orf18, IZUMO1, KIR2DS4, KLK10, ZNF628, NTN5, CD37, NAPSA, LILRA6, MIR1323, MYH14, LOC119369032, SIGLEC16, LOC119369028, ZNF583, ZNF543, ZSCAN5B, DNAAF3, FUZ, SLC6A16, MIR516B1, MZF1-AS1, FPR3, BCAT2, LOC121627884, MIR520E, MIR150, RDH13, ZNF816, LOC121627888, KLK15, ZNF256, AURKC, CA11, LOC112552172, ZNF547, SNAR-A9, OSCAR, ZSCAN5A, ZNF264, PRPF31, LOC105447645, LILRA2, VRK3, FAM83E, KLK12, LOC111721713, MIR520B, CHMP2A, MIR526A2, MBOAT7, SPACA6, MIR4751, LOC113939975, ZNF470, SIGLEC7, ZNF577, ZNF611, LOC121852994, BRSK1, ELSPBP1, SNAR-A13, ERVFRD-2, GRIN2D, FGF21, PEG3, SNORD34, MYADM-AS1, PPP1R12C, TARM1, ODAD1, NLRP7, LINC01864, ZNF528, HAS1, LIN7B, CGB1, CARD8, KLK7, ZNF677, CYTH2, KLK3, ZNF551, ZNF331, IRF3, KLK14, KLK8, ZNF350-AS1, TSKS, ZNF471, JOSD2, BSPH1, NLRP11, C19orf81, TBC1D17, LOC121627885, SNORD88A, NDUFA3, RASIP1, ZNF649, LOC109279247, DUXA, ZNF773, KCNC3, LINC01530, MIR526A1, SIGLEC6, LOC101928517, LAIR2, ZNF460, ACP4, MIR498, SHISA7, LOC116286197, TMEM238, LOC116286192, LOC116286195, KCNJ14, LOC112577452, ZNF460-AS1, VN1R1, SNAR-G2, SNAR-A7, MIR373, LOC119369033, MIR520F, LAIR1, KIR3DL2, TNNI3, CGB5, ZNF320, USP29, SPACA6-AS1, GARIN5B, LOC111811967, ZNF837, MIR6803, LOC117125600, ZNF324B, ZNF701, PRKCG, ZSCAN22, MIR6806, MIR6805, PTOV1-AS2, NLRP13, MIR519A2, SLC27A5, SNAR-A10, CARD8-AS1, LOC111828494, KLK4, NTF4, KIR2DL1, MIR519E, LILRB1, ISOC2, SNORD157, ASPDH, MIR518B, ZSWIM9, MIR522, MIR517C, ETFB, GRWD1, NUCB1-AS1, KMT5C, SNAR-C4, LOC112553118, LOC117125601, PPP2R1A, ZNF550, PLA2G4C, LIM2, MIR516A2, ERVV-1, MIR525, ZNF667, HSPBP1, IGLON5, BCL2L12, ZNF274, ZNF524, LOC112552169, LOC121627886, SIGLEC10, ZNF17, ZNF865, ZNF805, MIR935, FTL, SNAR-A4, LOC121627889, LOC106128905, ZNF444, LILRB5, KCNA7, MIR523, ZNF841, MED25, ZBTB45, CPT1C, TRAPPC2B, SBK3, TMC4, NLRP8, SIGLEC11, MIR518A2, ZIM2, MIR4749, ZNF480, ZSCAN4, LOC101928295, MIR7975, SIGLEC14, ZNF160, LOC121627887, SSC5D, NLRP12, CTU1, SBK2, NCR1, ZNF845, MIR512-1, VSTM1, CACNG8, KLK2, CABP5, TRPM4, AP2A1, SNORD88C, ZNF765-ZNF761, MIMT1, SMIM17, PNKP, EMP3, LENG1, PTH2, MIR518A1, ATF5, MIR1283-2, ZNF888, SNAR-B1, KLK11, ZNF587, C19orf84, C19orf85, VSIG10L, ZNF610, LOC119369037, PRR12, CGB8, RPL13A, LOC117125602, LOC112553114, ZNF544, ZIK1, ZNF580, ZNF350, ZNF649-AS1, ZNF497, LOC116286196, ZNF613, ZNF417, ZNF418, ZNF579, LOC112553112, MIR371B, PRMT1, TMEM86B, LINC01872, MIR517A, COX6B2, TSEN34, PLEKHA4, LOC101059948, MIR519A1, NAT14, SNAR-A8, ZNF552, NUCB1, LOC112552170, ZNF667-AS1, MIR518D, RNF225, ZSCAN5C, SIGLEC9, MIR512-2, ZNF813, ZNF772, LOC119369027, ZNF71-SMIM17, SNAR-D, MIR520H, EMC10, MIR6800, ZNF548, CEACAM18, TMEM190, TEAD2, ZNF665, LOC112552171, C19orf73, LOC117125599, MIR516A1, PIH1D1, SNORD35A, LOC121852992, LILRA5, LOC119369035, FUT1, NOSIP, ZNF154, KLK6, LILRB4, CLDND2, ZNF880, ZNF814, ZNF468, POLD1, SNRNP70, TRIM28, LILRA1, GARIN5A, NUP62, MIR526B, ZNF525, LOC112552178, MIR6807, GPR32, MYADM, SPHK2, MIR4750, LOC119369030, LOC121852993, LOC112553119, SYT3, LOC116286193, SIGLEC5, RRAS, ZIM3, ZFP28-DT, LOC116286194, ZNF416, HSD17B14, ZNF175, ZNF473, LOC112552168, MIR10394, SNAR-A14, CGB2, LOC112552177, MYBPC2, RUVBL2, VN1R4, AKT1S1, LOC106128906, ZNF784, NR1H2, MIR6799, ERVK3-1, NLRP4, LOC122539214, TMEM143, ZNF8-ERVK3-1, ZNF749, ZNF776, HRC, SIGLEC10-AS1, NKG7, CD33, LOC400710, MIR521-2, RPS9, RPL18, TNNT1, KIR3DL1, ZNF671, MIR371A, LRRC4B, ZNF114, PTOV1, RPL28, ZNF415, ZNF766, ZNF134, FLT3LG, ZNF135, EPN1, MZF1, GFY, ZNF497-AS1, MIR4754, SPIB, ZNF132, ZNF808, MIR519B, SNAR-A11, FIZ1, MIR520A, MIR6801, KLK13, MIR515-1, ERVV-2, ZNF787, MIR643, RPS5, MIR125A, MIR518F, CACNG6, LOC107198088, LILRB3, ZSCAN18, TULP2, MIR6804, CGB7, EPS8L1, MIR517B, LMTK3, NLRP9, SNAR-B2, SIGLEC12, MIR527, MIR8074, A1BG-AS1, ZNF528-AS1, ZNF765, ZNF71, MIR6802, LOC119369031, LINC01869, MIR520D, PTOV1-AS1, DKKL1, ZNF549, MIR518C, ZIM2-AS1, FCGRT, ZNF578, DPRX, MIR520G, LENG8, KLK1, VN1R2, SYNGR4, MIRLET7E, ZNF8-DT, ZNF446, LOC112553117, MIR519D, ZNF587B, SIGLECL1, SNAR-A6, ZNF586, IL11, LOC107983998, LILRA4, SHANK1, ZNF836, RFPL4A, SNAR-C1, ZNF304, RFPL4AL1, MIR8061, KLK5, LOC112577454, ZNF582-DT, BAX, LOC112553116, ZNF584, GYS1, SLC17A7, LOC112553115, SNORD32A, SNAR-A5, ZNF581, LOC119369034, PLA2G4C-AS1, CNOT3, MIR5088
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000059117
3.
GRCh37:
Chr19:50411089-59069256
GRCh38:
Chr19:49907832-58557889
ZNF444, MIR516B1, MIR515-1, MIR519D, ZNF614, ZNF534, NAT14, MIR4751, LOC122539214, MYADM-AS1, MIR517B, ERVV-1, PPP2R1A, PRKCG, KMT5C, LILRB1, ATF5, SMIM17, SIGLEC8, LOC112553119, MIR527, ZIM2, ZNF835, MIR518A1, ISOC2, NLRP4, MIR1283-2, ZNF587, IL4I1, ZNF816-ZNF321P, ZNF577, LOC112553117, VN1R1, ZNF524, KLK13, MIMT1, ZFP28-DT, SIGLEC11, MIRLET7E, ZNF677, GARIN5A, LILRB4, ZNF497, ZNF324, TFPT, SSC5D, SPACA6, MIR99B, FPR1, MIR516B2, SIGLEC12, A1BG-AS1, TRAPPC2B, NR1H2, SNAR-A10, A1BG, RPS5, ZNF583, ZNF528-AS1, ASPDH, LOC105372440, KLK12, FPR2, ZNF582-DT, ZNF667-AS1, ZNF649-AS1, ZNF845, HAS1, LOC112552177, LOC121627887, ZNF544, EDDM13, ZNF701, ZNF415, MIR10394, MIR523, ZNF416, MIR524, PEG3-AS1, ZNF552, ZNF836, CHMP2A, MIR371B, ZNF470, ZNF8-DT, ZNF548, SHISA7, MIR515-2, SHANK1, SIGLEC14, LINC01869, ZNF550, MIR373, POLD1, LOC107198088, ZNF613, MIR518B, ZNF132, LOC121627888, SNAR-D, KLK8, MIR520B, KLK7, MIR6805, LOC101928804, MYBPC2, MIR512-2, SNAR-A11, SNAR-A7, ZNF765, NLRP2, NKG7, MIR4754, TMEM86B, ZNF766, ZNF671, MIR518F, LINC01530, ZNF543, SNAR-B2, NLRP13, RDH13, LILRA1, CDC42EP5, VN1R2, LOC112553114, ZNF154, LOC100128398, GARIN5B, ZNF274, ZSCAN1, MIR520H, ZNF211, KIR3DL1, GP6, ERVFRD-2, TMEM190, DNAAF3, ZSCAN5C, LOC121852993, SNAR-A6, ERVV-2, ZNF888, BRSK1, MIR526B, ZNF808, PRPF31, ZSCAN4, ZNF460, ZFP28, SNAR-A5, ZSCAN5A, SIGLEC6, TRIM28, NLRP12, NDUFA3, ZNF530, IZUMO2, ZNF773, ZNF28, LOC400710, ZNF480, SNORD88B, ZNF776, SNAR-A9, LENG8, LILRA4, SBK3, MIR6803, ZNF610, ZNF865, PTPRH, ZBTB45, ACP4, UBE2S, ETFB, ZNF473, CLDND2, VRK3, ZNF606, EPN1, MIR518E, IGLON5, ZNF331, ZNF813, CD33, MIR1283-1, CCDC106, EMC10, NLRP5, MIR643, KLK15, ZNF761, ZNF446, LINC01864, VN1R4, NUP62, ZNF417, ZNF419, LOC107198089, ZNF586, U2AF2, VSTM1, ZNF468, C19orf84, ZNF135, LILRA6, MIR520D, NAPSA, CACNG7, SNAR-A4, MIR7975, ZNF880, ZNF432, TMC4, GALP, SBK2, ZNF772, ZNF549, KLK4, SPACA6-AS1, LOC112553116, ZNF587B, SNAR-F, FCAR, MIR521-1, LOC121627889, MIR8074, LOC116286195, LENG1, ZNF580, USP29, C19orf81, CLEC11A, MIR522, FIZ1, CACNG6, ZSCAN22, RFPL4A, MIR521-2, ZNF256, ZNF320, ZNF667, LOC112552178, ZNF581, MIR518D, ZNF600, ZNF616, KCNC3, KIR2DS4, ZNF350-AS1, MIR519A2, GPR32, COX6B2, KIR2DL4, NCR1, SNORD157, ZNF615, KLK5, MYADM, SYT5, ZNF628, LOC112577454, ZNF160, LENG9, ZNF347, CTU1, ZNF8-ERVK3-1, ZNF805, ZIM2-AS1, LILRB5, SIGLEC10-AS1, PEG3, TNNT1, MIR1323, IL11, MIR520A, KLK10, MIR520F, MIR517A, LOC101928517, NLRP7, LOC116286194, SYT3, LOC105372480, LOC105372441, ZNF841, TNNI3, ZNF264, MIR519C, SIGLEC9, FPR3, LAIR1, SPIB, LOC121852994, MIR519B, MIR6804, MIR518A2, SIGLEC5, VSIG10L, LOC113939975, RFPL4AL1, ZNF8, ZNF649, ZNF551, SIGLEC10, LAIR2, JOSD2, C19orf18, ZNF578, SLC27A5, TMEM150B, MIR519A1, KIR3DL2, MIR935, MIR516A1, PPP1R12C, CNOT3, LINC01872, TARM1, KLK14, UBE2M, ZNF71, MIR526A2, ZNF765-ZNF761, ZNF17, MYH14, MIR4752, ZNF460-AS1, MIR517C, LOC112577452, ZSCAN5B, ZNF324B, LOC106128906, ZNF579, KLK3, NLRP9, LILRB3, MIR520G, ZNF784, KLK6, ZNF83, MIR371A, ZNF71-SMIM17, MBOAT7, LOC112553118, KIR2DL3, ZNF350, LOC111811967, DPRX, ZNF749, SIGLECL1, LOC112553112, MIR6802, CACNG8, MIR498, ERVK3-1, ZNF547, MIR516A2, ZNF497-AS1, KLK2, LOC112577453, TTYH1, MIR526A1, LINC02560, ZNF329, ZNF418, ZNF665, SNORD88A, NLRP8, LOC106128905, LOC112553115, ZNF175, C19orf85, KLK11, LOC107983998, MIR520E, ZNF528, MIR6806, NLRP11, LILRA5, MIR125A, RPL28, DUXA, ZIK1, MIR372, ZNF525, LOC116286197, LOC112553113, ZNF584, SIGLEC16, RPS9, ZNF816, MIR520C, SNAR-A8, RNF225, SNAR-A14, LIM2, ZNF837, ZNF814, LILRA2, KLK9, ZNF471, PPP6R1, CEACAM18, LENG8-AS1, KIR2DL1, LILRB2, ZNF304, KLK1, MIR6801, LOC116286196, ZNF611, ZIM3, EPS8L1, MIR8061, TMEM238, KIR3DL3, OSCAR, TSEN34, ZNF787, SNORD88C, ZNF582, MIR519E, MIR518C, SNAR-B1, MIR525, AURKC, ZSCAN18, LOC121852992, MIR512-1, SIGLEC7, LRRC4B, ZNF134, MIR6807, HSPBP1
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000059126
4.
GRCh37:
Chr19:50655777-59092570
GRCh38:
Chr19:50152520-58581203
A1BG, A1BG-AS1, ACP4, ASPDH, AURKC, BRSK1, C19orf18, C19orf81, C19orf84, C19orf85, CACNG6, CACNG7, CACNG8, CCDC106, CD33, CDC42EP5, CEACAM18, CHMP2A, CLDND2, CLEC11A, DPRX, DUXA, EDDM13, CNOT3, COX6B2, CTU1, DNAAF3, EMC10, EPN1, EPS8L1, ERVFRD-2, ERVK3-1, ERVV-1, ERVV-2, ETFB, FCAR, FIZ1, FPR1, FPR2, FPR3, GALP, GARIN5A, GARIN5B, GP6, GPR32, HAS1, HSPBP1, IGLON5, IL11, ISOC2, IZUMO2, JOSD2, KCNC3, KIR2DL1, KIR2DL3, KIR2DL4, KIR2DS4, KIR3DL1, KIR3DL2, KIR3DL3, KLK1, KLK10, KLK11, KLK12, KLK13, KLK14, KLK15, KLK2, KLK3, KLK4, KLK5, KLK6, KLK7, KLK8, KLK9, KMT5C, LAIR1, LAIR2, LENG1, LENG8, LENG8-AS1, LENG9, LILRA1, LILRA2, LILRA4, LILRA5, LILRA6, LILRB1, LILRB2, LILRB3, LILRB4, LILRB5, LIM2, LINC01530, LINC01864, LINC01869, LINC01872, LINC02560, LOC100128398, LOC101928517, LOC105372440, LOC105372441, LOC101928804, LOC105372480, LOC106128905, LOC106128906, LOC107198088, LOC107198089, LOC107983998, LOC111811967, LOC112552177, LOC112552178, LOC112553112, LOC112553113, LOC112553114, LOC112553115, LOC112553116, LOC112553117, LOC112553118, LOC112553119, LOC112577452, LOC112577453, LOC112577454, LOC113939975, LOC116286194, LOC116286195, LOC116286196, LOC116286197, LOC121627887, LOC121627888, LOC121627889, LOC121852992, LOC121852993, LOC121852994, LOC122539214, LRRC4B, MBOAT7, MIMT1, MIR10394, MIR125A, MIR1283-1, MIR1283-2, MIR1323, MIR371A, MIR371B, MIR372, MIR373, MIR4752, MIR4754, MIR498, MIR512-1, MIR512-2, MIR515-1, MIR515-2, MIR516A1, MIR516A2, MIR516B1, MIR516B2, MIR517A, MIR517B, MIR517C, MIR518A1, MIR518A2, MIR518B, MIR518C, MIR518D, MIR518E, MIR518F, MIR519A1, MIR519A2, MIR519B, MIR519C, MIR519D, MIR519E, MIR520A, MIR520B, MIR520C, MIR520D, MIR520E, MIR520F, MIR520G, MIR520H, MIR521-1, MIR521-2, MIR522, MIR523, MIR524, MIR525, MIR526A1, MIR526A2, MIR526B, MIR527, MIR643, MIR6801, MIR6802, MIR6803, MIR6804, MIR6805, MIR6806, MIR6807, MIR7975, MIR8061, MIR8074, MIR935, MIR99B, MIRLET7E, MYADM, MYADM-AS1, MYBPC2, MYH14, MZF1, MZF1-AS1, NAPSA, NAT14, NCR1, NDUFA3, NKG7, NLRP11, NLRP12, NLRP13, NLRP2, NLRP4, NLRP5, NLRP7, NLRP8, NLRP9, NR1H2, OSCAR, PEG3, PEG3-AS1, POLD1, PPP1R12C, PPP2R1A, PPP6R1, PRKCG, PRPF31, PTPRH, RDH13, RFPL4A, RFPL4AL1, RNF225, RPL28, RPS5, RPS9, SBK2, SBK3, SHANK1, SHISA7, SIGLEC10, SIGLEC10-AS1, SIGLEC12, SIGLEC14, SIGLEC5, SIGLEC6, SIGLEC7, SIGLEC8, SIGLEC9, SIGLECL1, SLC27A5, SMIM17, SNAR-F, SNORD157, SNORD88A, SNORD88B, SNORD88C, SPACA6, SPACA6-AS1, SPIB, SSC5D, SYT3, SYT5, TARM1, TFPT, TMC4, TMEM150B, TMEM190, TMEM238, TMEM86B, TNNI3, TNNT1, TRAPPC2B, TRIM28, UBE2S, USP29, TSEN34, TTYH1, U2AF2, UBE2M, VN1R1, VN1R2, VN1R4, VSIG10L, VSTM1, ZBTB45, ZFP28, ZFP28-DT, ZIK1, ZIM2, ZIM2-AS1, ZIM3, ZNF132, ZNF134, ZNF135, ZNF154, ZNF160, ZNF17, ZNF175, ZNF211, ZNF256, ZNF264, ZNF274, ZNF28, ZNF304, ZNF320, ZNF324, ZNF324B, ZNF329, ZNF331, ZNF347, ZNF350, ZNF350-AS1, ZNF415, ZNF416, ZNF417, ZNF418, ZNF419, ZNF432, ZNF444, ZNF446, ZNF460, ZNF460-AS1, ZNF468, ZNF470, ZNF471, ZNF480, ZNF497, ZNF497-AS1, ZNF524, ZNF525, ZNF528, ZNF528-AS1, ZNF530, ZNF534, ZNF543, ZNF544, ZNF547, ZNF548, ZNF549, ZNF550, ZNF551, ZNF552, ZNF577, ZNF578, ZNF579, ZNF580, ZNF581, ZNF582, ZNF582-DT, ZNF583, ZNF584, ZNF586, ZNF587, ZNF587B, ZNF600, ZNF606, ZNF610, ZNF611, ZNF613, ZNF614, ZNF615, ZNF616, ZNF628, ZNF649, ZNF649-AS1, ZNF665, ZNF667, ZNF667-AS1, ZNF671, ZNF677, ZNF701, ZNF71, ZNF71-SMIM17, ZNF749, ZNF761, ZNF765, ZNF765-ZNF761, ZNF766, ZNF772, ZNF773, ZNF776, ZNF784, ZNF787, ZNF8, ZNF8-DT, ZNF8-ERVK3-1, ZNF805, ZNF808, ZNF813, ZNF814, ZNF816, ZNF816-ZNF321P, ZNF83, ZNF835, ZNF836, ZNF837, ZNF841, ZNF845, ZNF865, ZNF880, ZNF888, ZSCAN1, ZSCAN18, ZSCAN22, ZSCAN4, ZSCAN5A, ZSCAN5B, ZSCAN5C
See casesPathogenic
(Oct 19, 2010)
no assertion criteria providedVCV000146579
5.
GRCh37:
Chr19:50694476-59047185
GRCh38:
Chr19:50191219-58535818
KLK6, ERVK3-1, ZNF550, ZNF497-AS1, SBK3, LILRB1, LILRB4, ZNF749, ZNF415, MIR526B, MIR520B, NDUFA3, KLK3, MIR10394, ZNF446, ZNF615, ZNF468, MIR125A, A1BG, MIR519B, ZBTB45, MIR518B, ZNF83, LOC121627887, LOC107983998, MIR527, KLK15, ZNF347, ZIM2-AS1, ZNF132, ZNF671, ZNF816-ZNF321P, JOSD2, ZNF835, SNAR-F, ZNF773, ERVV-2, A1BG-AS1, ZNF581, EDDM13, GPR32, MBOAT7, ZNF549, MIR526A2, LOC101928804, PPP6R1, CEACAM18, HAS1, ZNF28, MIR517A, SIGLEC6, ZNF772, ZNF766, ZNF808, FPR1, RNF225, LOC112577453, LOC112577452, RDH13, LENG8, PPP1R12C, NLRP8, ZNF329, NLRP4, NLRP12, MYBPC2, TRAPPC2B, RPS5, MIR520A, VN1R2, MIR518D, MIR524, DUXA, VSIG10L, ZIK1, ZNF836, GALP, SIGLEC8, LOC116286197, MIR4752, ZSCAN5C, ZNF528, LOC105372440, MIR525, ZNF547, LOC112553112, ERVFRD-2, ZNF586, MIR6805, UBE2S, ZNF8-DT, CACNG6, ZNF331, TMC4, ZNF460, TNNT1, MIR519A2, ZNF667, C19orf84, KIR3DL1, SIGLEC10-AS1, ZNF551, ZNF845, MIR517C, SNORD88B, SIGLEC14, C19orf81, C19orf85, MIR935, PEG3-AS1, SIGLEC10, KIR2DS4, LIM2, LOC112553118, LOC101928517, ZNF611, PRKCG, ETFB, NAT14, ZNF528-AS1, ZNF816, SIGLEC5, ZNF813, ZNF471, GP6, ZNF665, LOC112553116, NLRP13, SYT5, MIR518A1, ZNF17, MIR519E, SMIM17, MIR643, MIR99B, ZNF610, SNORD88C, ZNF71, IGLON5, MIR372, MIR1283-2, SPACA6, ZNF524, LOC105372480, C19orf18, VSTM1, ERVV-1, CNOT3, ZNF865, MIR516B1, ZSCAN5B, CTU1, LILRB3, SYT3, ZNF765-ZNF761, ZNF880, SBK2, MIR516B2, ZNF841, KLK12, ZNF211, LOC105372441, AURKC, MIR8074, LOC112552177, ZNF304, GARIN5B, LOC121627889, ZNF582-DT, VN1R1, ZNF264, FIZ1, ZIM3, MIR518E, ZNF587B, ASPDH, TARM1, EPN1, DPRX, ZSCAN18, ZNF544, MIR516A1, MYH14, ZNF761, LOC106128905, SPACA6-AS1, ZNF787, LINC02560, ZSCAN1, COX6B2, MIR520C, ZNF256, MIR521-1, ZNF776, ZNF530, ZNF418, IL11, NLRP11, SHANK1, ZNF497, ZNF701, ZNF600, MIR519C, VN1R4, LOC121852993, ZNF583, LINC01530, ZNF548, LILRA4, KIR2DL3, KLK1, ZNF419, ZNF534, MIR518A2, SPIB, CLEC11A, ZNF460-AS1, TMEM238, ZSCAN4, MIR523, ZNF765, LOC112553114, ZNF577, ZNF677, NKG7, ZNF552, EMC10, ZNF135, LINC01864, POLD1, MIR520F, MIR8061, KIR3DL3, ZNF613, SSC5D, MIR512-1, CACNG8, ZNF578, LENG9, MIR522, KIR3DL2, KLK9, PTPRH, LOC112577454, MIR521-2, MIR520G, ZFP28, KCNC3, LILRA6, CLDND2, MIR516A2, LINC01869, LOC112553115, ZNF71-SMIM17, ZFP28-DT, LOC121852992, KLK7, LOC121627888, MIR519D, NLRP9, MIR520E, PPP2R1A, USP29, LOC121852994, ZNF606, ZNF649, KLK14, SNORD88A, ZNF580, DNAAF3, MIRLET7E, SIGLEC9, LENG8-AS1, ZSCAN5A, TSEN34, ZNF628, MIR518C, LOC113939975, LOC111811967, LILRB2, TMEM190, FPR2, ZNF587, NLRP7, ZNF616, ZNF324B, MIR498, ACP4, CCDC106, ZNF274, LOC116286196, CACNG7, MIR520H, LINC01872, OSCAR, NLRP5, ZSCAN22, ZNF160, PRPF31, SIGLECL1, FCAR, CD33, LOC112553113, LENG1, LOC112553117, TNNI3, LOC107198088, MIMT1, SLC27A5, ZNF432, ZNF667-AS1, ZNF470, TTYH1, KIR2DL4, ZNF814, RPS9, ZNF805, EPS8L1, LOC112552178, SNORD157, NCR1, MIR373, SHISA7, LOC116286195, LILRB5, RPL28, MIR1323, LOC122539214, KLK11, MIR7975, LILRA5, LOC100128398, BRSK1, ZNF584, HSPBP1, LAIR2, LILRA1, MYADM, KMT5C, LOC107198089, ZNF649-AS1, ZIM2, MIR1283-1, FPR3, MIR6804, ZNF480, LRRC4B, LOC116286194, ZNF324, LILRA2, CDC42EP5, MIR515-2, U2AF2, LOC112553119, LAIR1, ZNF784, ZNF154, ZNF417, ZNF444, LOC106128906, MIR6802, MIR520D, PEG3, MIR517B, MIR6806, ZNF614, GARIN5A, ZNF579, KLK8, ZNF543, KLK4, MIR6803, MIR519A1, ISOC2, ZNF837, MIR371A, ZNF134, TFPT, SIGLEC7, KLK10, TMEM86B, RFPL4A, ZNF888, KLK13, ZNF416, MIR518F, ZNF8, NR1H2, MIR371B, ZNF350, ZNF582, MYADM-AS1, RFPL4AL1, NAPSA, TMEM150B, KLK2, ZNF8-ERVK3-1, ZNF175, NLRP2, ZNF320, KIR2DL1, MIR4754, MIR515-1, MIR512-2, MIR526A1, KLK5, MIR6801, ZNF350-AS1, ZNF525, SIGLEC12
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000057219
6.
GRCh37:
Chr19:51644775-59051332
GRCh38:
Chr19:51141518-58539965
LOC101928517, ZNF587B, CDC42EP5, MIR516B2, MIR526A2, MIR125A, ZNF665, ZNF460, DUXA, SIGLEC8, ZNF524, TARM1, ZNF587, FIZ1, ZSCAN1, ZNF548, LAIR1, CCDC106, ZNF816, ZNF471, MIR526B, ZNF528-AS1, FPR1, LOC112553115, NAT14, MIR512-2, ZNF350-AS1, ZNF8-ERVK3-1, MIR520F, MIR498, LILRA1, MIR6803, ZNF543, MIR519A2, ZNF582, LOC112553119, MIR526A1, ZNF525, UBE2S, MIR518C, SMIM17, ZNF613, NKG7, DPRX, LOC122539214, LOC112553114, EDDM13, ZNF8-DT, LILRA2, GP6, MIR524, LILRB1, PEG3, ZNF460-AS1, TMEM150B, MIR6801, CACNG8, MIR7975, ZNF331, LOC107983998, C19orf18, ZNF808, SIGLEC10-AS1, LOC121852993, ERVK3-1, SIGLEC6, MIR521-2, RFPL4AL1, ZNF544, PRKCG, ZNF28, LAIR2, C19orf84, MIR516A2, ZSCAN5C, LENG1, ZNF581, ISOC2, CACNG6, TNNT1, MIR525, LENG8, SIGLEC5, GARIN5B, MIR518E, LOC112553117, KIR3DL3, ZNF805, PEG3-AS1, ZNF776, MIR6805, NLRP7, ZNF649, ZNF211, ZNF320, ZNF766, SPACA6-AS1, FCAR, ZNF578, MIR935, MIR517B, MIR643, PPP1R12C, RPS9, CACNG7, NLRP5, ZNF468, MIR520A, ZNF551, PPP2R1A, ZNF132, MIR1283-1, ZNF432, ZNF865, ZNF550, ZNF415, ZSCAN22, LIM2, ZNF761, EPS8L1, SHISA7, ZNF836, MIR4752, ZNF880, MIR517C, ZNF816-ZNF321P, ZNF787, AURKC, TRAPPC2B, LOC112577452, KIR3DL1, ZNF419, SYT5, MIR372, LINC01872, ZNF160, LILRA5, ZNF71, ZNF324B, MIR522, ZNF606, LILRB5, C19orf85, LILRA4, TMEM238, PRPF31, U2AF2, OSCAR, ERVV-2, LENG8-AS1, TTYH1, MYADM-AS1, LOC121627887, ZNF616, A1BG-AS1, MIRLET7E, ZNF534, ZNF329, TSEN34, VN1R1, CEACAM18, ZNF552, ZNF835, ZNF837, LOC113939975, NLRP2, MIR1323, ZNF175, TMEM190, VSIG10L, ZNF749, SIGLEC12, ZNF134, MIR519A1, CLDND2, ZFP28, MIR373, ZNF765-ZNF761, ZNF264, ETFB, HAS1, MIR521-1, MIR520H, MIR1283-2, MBOAT7, ZNF765, LOC112553113, LILRB4, ZNF579, KIR2DL3, PPP6R1, LOC112577453, ZNF615, SIGLEC10, LOC101928804, ZNF444, LILRB3, ZNF784, ZNF350, TFPT, MIR371A, MIR527, MIR518A1, LOC112553116, CNOT3, ZNF814, ZNF580, LOC121627889, ZNF628, LOC121852994, FPR2, ZNF417, ZNF671, MIR519E, KIR3DL2, MIR520G, ZNF256, ZSCAN5B, ZNF813, ZNF677, ZNF600, ZNF549, ZNF71-SMIM17, KMT5C, ZNF667-AS1, ZNF773, ERVFRD-2, ZIM2, LOC112577454, SPACA6, LINC01864, MIR517A, MIMT1, TMC4, PTPRH, SLC27A5, MIR519C, ZNF701, ZNF497-AS1, ZNF888, ZSCAN5A, MIR4754, COX6B2, KIR2DS4, ZNF154, ZNF135, ZNF530, NLRP12, CD33, NLRP9, BRSK1, MIR520C, ZNF649-AS1, ZNF480, NCR1, MIR518F, MIR520D, NLRP8, ZSCAN18, TMEM86B, MIR518B, NLRP4, ZNF577, MIR520B, ZNF416, ZBTB45, VSTM1, SBK2, ZNF17, ZIM3, KIR2DL1, ZIM2-AS1, ZNF274, ZNF583, MIR516A1, SBK3, LOC100128398, MIR515-2, MIR10394, ZNF586, MIR515-1, FPR3, ZNF547, ERVV-1, ZNF667, ZNF845, MIR8074, VN1R4, NDUFA3, ZNF8, LINC02560, DNAAF3, SNORD157, ZNF611, LOC112553118, RDH13, ZNF528, A1BG, MIR6806, KIR2DL4, ZIK1, MIR99B, MIR518D, LOC116286196, MIR8061, USP29, LENG9, ZNF304, ZNF614, LOC116286197, SIGLEC7, MIR516B1, ZNF497, VN1R2, ZNF446, ZNF772, MIR6802, ZNF582-DT, ZSCAN4, TNNI3, ZFP28-DT, LOC105372480, MIR512-1, NLRP13, RFPL4A, MIR371B, SSC5D, ZNF610, LILRB2, ZNF83, ZNF470, MIR519B, ZNF841, HSPBP1, ZNF324, RPS5, GALP, LINC01530, RPL28, MIR520E, IL11, SIGLEC14, MIR523, LOC121627888, MIR518A2, NLRP11, ZNF418, MYADM, EPN1, SIGLECL1, IGLON5, MIR519D, RNF225, LILRA6, ZNF584, ZNF347, MIR6804
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000059127
7.
GRCh37:
Chr19:52647126-58956888
GRCh38:
Chr19:52143873-58445521
A1BG, A1BG-AS1, AURKC, BRSK1, C19orf18, C19orf85, CACNG6, CACNG7, CACNG8, CCDC106, CDC42EP5, CNOT3, COX6B2, DNAAF3, DPRX, DUXA, EDDM13, EPN1, EPS8L1, ERVFRD-2, ERVK3-1, ERVV-1, ERVV-2, FCAR, FIZ1, GALP, GARIN5B, GP6, HSPBP1, IL11, ISOC2, KIR2DL1, KIR2DL3, KIR2DL4, KIR2DS4, KIR3DL1, KIR3DL2, KIR3DL3, KMT5C, LAIR1, LAIR2, LENG1, LENG8, LENG8-AS1, LENG9, LILRA1, LILRA2, LILRA4, LILRA5, LILRA6, LILRB1, LILRB2, LILRB3, LILRB4, LILRB5, LINC01864, LINC02560, LOC100128398, LOC105372480, LOC107983998, LOC112553113, LOC101928804, LOC112553114, LOC112553115, LOC112553116, LOC112553117, LOC112553118, LOC112553119, LOC112577452, LOC112577453, LOC113939975, LOC116286196, LOC116286197, LOC121627887, LOC121627888, LOC121627889, LOC121852993, LOC121852994, LOC122539214, MBOAT7, MIMT1, MIR10394, MIR1283-1, MIR1283-2, MIR1323, MIR371A, MIR371B, MIR372, MIR373, MIR4752, MIR4754, MIR498, MIR512-1, MIR512-2, MIR515-1, MIR515-2, MIR516A1, MIR516A2, MIR516B1, MIR516B2, MIR517A, MIR517B, MIR517C, MIR518A1, MIR518A2, MIR518B, MIR518C, MIR518D, MIR518E, MIR518F, MIR519A1, MIR519A2, MIR519B, MIR519C, MIR519D, MIR519E, MIR520A, MIR520B, MIR520C, MIR520D, MIR520E, MIR520F, MIR520G, MIR520H, MIR521-1, MIR521-2, MIR522, MIR523, MIR524, MIR525, MIR526A1, MIR526A2, MIR526B, MIR527, MIR643, MIR6801, MIR6802, MIR6803, MIR6804, MIR6805, MIR6806, MIR7975, MIR8061, MIR935, MYADM, MYADM-AS1, NAT14, NCR1, RFPL4AL1, NDUFA3, NLRP11, NLRP12, NLRP13, RPS5, NLRP2, NLRP4, NLRP5, RNF225, RPL28, NLRP7, NLRP8, NLRP9, OSCAR, PEG3, PEG3-AS1, PPP1R12C, PPP2R1A, PPP6R1, PRKCG, PRPF31, PTPRH, RDH13, RFPL4A, RPS9, SBK2, SBK3, SHISA7, SMIM17, SNORD157, SSC5D, SYT5, TARM1, TMEM238, TFPT, TMC4, TMEM150B, TMEM190, TMEM86B, TNNI3, TNNT1, TRAPPC2B, USP29, VN1R1, TSEN34, TTYH1, U2AF2, UBE2S, VN1R2, VN1R4, VSTM1, ZFP28, ZFP28-DT, ZIK1, ZIM2, ZIM2-AS1, ZIM3, ZNF132, ZNF134, ZNF135, ZNF154, ZNF160, ZNF17, ZNF211, ZNF256, ZNF264, ZNF274, ZNF28, ZNF304, ZNF320, ZNF329, ZNF331, ZNF347, ZNF415, ZNF416, ZNF417, ZNF418, ZNF419, ZNF444, ZNF460, ZNF460-AS1, ZNF468, ZNF470, ZNF471, ZNF480, ZNF497, ZNF497-AS1, ZNF524, ZNF525, ZNF528, ZNF528-AS1, ZNF530, ZNF534, ZNF543, ZNF544, ZNF547, ZNF548, ZNF549, ZNF550, ZNF551, ZNF552, ZNF578, ZNF579, ZNF580, ZNF581, ZNF582, ZNF582-DT, ZNF583, ZNF584, ZNF586, ZNF587, ZNF587B, ZNF600, ZNF606, ZNF610, ZNF611, ZNF628, ZNF665, ZNF667, ZNF667-AS1, ZNF671, ZNF677, ZNF701, ZNF71, ZNF71-SMIM17, ZNF749, ZNF761, ZNF765, ZNF765-ZNF761, ZNF766, ZNF772, ZNF773, ZNF776, ZNF784, ZNF787, ZNF8, ZNF8-DT, ZNF8-ERVK3-1, ZNF805, ZNF808, ZNF813, ZNF814, ZNF816, ZNF816-ZNF321P, ZNF83, ZNF835, ZNF836, ZNF837, ZNF845, ZNF865, ZNF880, ZNF888, ZSCAN1, ZSCAN18, ZSCAN22, ZSCAN4, ZSCAN5A, ZSCAN5B, ZSCAN5C
See casesPathogenic
(Aug 19, 2013)
no assertion criteria providedVCV000153721
8.
GRCh37:
Chr19:53115685-59092570
GRCh38:
Chr19:52612432-58581203
A1BG, A1BG-AS1, AURKC, BRSK1, C19orf18, C19orf85, CACNG6, CACNG7, CACNG8, CCDC106, CDC42EP5, CHMP2A, CNOT3, COX6B2, DNAAF3, DPRX, DUXA, EDDM13, EPN1, EPS8L1, ERVFRD-2, ERVK3-1, ERVV-1, ERVV-2, FCAR, FIZ1, GALP, GARIN5B, GP6, HSPBP1, IL11, ISOC2, KIR2DL1, KIR2DL3, KIR2DL4, KIR2DS4, KIR3DL1, KIR3DL2, KIR3DL3, KMT5C, LAIR1, LAIR2, LENG1, LENG8, LENG8-AS1, LENG9, LILRA1, LILRA2, LILRA4, LILRA5, LILRA6, LILRB1, LILRB2, LILRB3, LILRB4, LILRB5, LINC01864, LINC02560, LOC100128398, LOC105372480, LOC107983998, LOC112553113, LOC101928804, LOC112553114, LOC112553115, LOC112553116, LOC112553117, LOC112553118, LOC112553119, LOC112577452, LOC112577453, LOC112577454, LOC113939975, LOC116286196, LOC116286197, LOC121627888, LOC121627889, LOC121852993, LOC121852994, LOC122539214, MBOAT7, MIMT1, MIR10394, MIR1283-1, MIR1283-2, MIR1323, MIR371A, MIR371B, MIR372, MIR373, MIR4752, MIR4754, MIR498, MIR512-1, MIR512-2, MIR515-1, MIR515-2, MIR516A1, MIR516A2, MIR516B1, MIR516B2, MIR517A, MIR517B, MIR517C, MIR518A1, MIR518A2, MIR518B, MIR518C, MIR518D, MIR518E, MIR518F, MIR519A1, MIR519A2, MIR519B, MIR519C, MIR519D, MIR519E, MIR520A, MIR520B, MIR520C, MIR520D, MIR520E, MIR520F, MIR520G, MIR520H, MIR521-1, MIR521-2, MIR522, MIR523, MIR524, MIR525, MIR526A1, MIR526A2, MIR526B, MIR527, MIR6802, MIR6803, MIR6804, MIR6805, MIR6806, MIR6807, MIR7975, MIR8061, MIR935, MYADM, MYADM-AS1, MZF1, MZF1-AS1, NAT14, NCR1, NDUFA3, NLRP11, NLRP12, NLRP13, NLRP2, NLRP4, NLRP5, NLRP7, NLRP8, NLRP9, OSCAR, PEG3, PEG3-AS1, PPP1R12C, PPP6R1, PRKCG, PRPF31, PTPRH, RDH13, RFPL4A, RFPL4AL1, RNF225, RPL28, RPS5, RPS9, SBK2, SBK3, SHISA7, SLC27A5, SMIM17, SNORD157, SSC5D, SYT5, TARM1, TFPT, TMC4, TMEM150B, TMEM190, TMEM238, TMEM86B, TNNI3, TNNT1, TRAPPC2B, TRIM28, TSEN34, TTYH1, U2AF2, UBE2M, UBE2S, USP29, VN1R1, VN1R2, VN1R4, ZNF154, VSTM1, ZBTB45, ZFP28, ZFP28-DT, ZIK1, ZIM2, ZIM2-AS1, ZIM3, ZNF132, ZNF134, ZNF135, ZNF160, ZNF17, ZNF211, ZNF256, ZNF264, ZNF274, ZNF28, ZNF304, ZNF320, ZNF324, ZNF324B, ZNF329, ZNF331, ZNF347, ZNF415, ZNF416, ZNF417, ZNF418, ZNF419, ZNF444, ZNF446, ZNF460, ZNF460-AS1, ZNF468, ZNF470, ZNF471, ZNF497, ZNF497-AS1, ZNF524, ZNF525, ZNF530, ZNF543, ZNF544, ZNF547, ZNF548, ZNF549, ZNF550, ZNF551, ZNF552, ZNF579, ZNF580, ZNF581, ZNF582, ZNF582-DT, ZNF583, ZNF584, ZNF586, ZNF587, ZNF587B, ZNF600, ZNF606, ZNF611, ZNF628, ZNF665, ZNF667, ZNF667-AS1, ZNF671, ZNF677, ZNF701, ZNF71, ZNF71-SMIM17, ZNF749, ZNF761, ZNF765, ZNF765-ZNF761, ZNF772, ZNF773, ZNF776, ZNF784, ZNF787, ZNF8, ZNF8-DT, ZNF8-ERVK3-1, ZNF805, ZNF813, ZNF814, ZNF816, ZNF816-ZNF321P, ZNF83, ZNF835, ZNF837, ZNF845, ZNF865, ZNF888, ZSCAN1, ZSCAN18, ZSCAN22, ZSCAN4, ZSCAN5A, ZSCAN5B, ZSCAN5C
See casesPathogenic
(Aug 19, 2010)
no assertion criteria providedVCV000144762
9.
GRCh37:
Chr19:53458309-59092570
GRCh38:
Chr19:52955056-58581203
A1BG, A1BG-AS1, AURKC, BRSK1, C19orf18, C19orf85, CACNG6, CACNG7, CACNG8, CCDC106, CDC42EP5, CHMP2A, CNOT3, COX6B2, DNAAF3, DPRX, DUXA, EDDM13, EPN1, EPS8L1, ERVFRD-2, ERVK3-1, ERVV-1, ERVV-2, FCAR, FIZ1, GALP, GARIN5B, GP6, HSPBP1, IL11, ISOC2, KIR2DL1, KIR2DL3, KIR2DL4, KIR2DS4, KIR3DL1, KIR3DL2, KIR3DL3, KMT5C, LAIR1, LAIR2, LENG1, LENG8, LENG8-AS1, LENG9, LILRA1, LILRA2, LILRA4, LILRA5, LILRA6, LILRB1, LILRB2, LILRB3, LILRB4, LILRB5, LINC01864, LINC02560, LOC100128398, LOC105372480, LOC107983998, LOC112553113, LOC101928804, LOC112553114, LOC112553115, LOC112553116, LOC112553117, LOC112553118, LOC112553119, LOC112577452, LOC112577453, LOC112577454, LOC113939975, LOC116286196, LOC116286197, LOC121627888, LOC121627889, LOC121852993, LOC121852994, MBOAT7, MIMT1, MIR10394, MIR1283-1, MIR1283-2, MIR1323, MIR371A, MIR371B, MIR372, MIR373, MIR4752, MIR4754, MIR498, MIR512-1, MIR512-2, MIR515-1, MIR515-2, MIR516A1, MIR516A2, MIR516B1, MIR516B2, MIR517A, MIR517B, MIR517C, MIR518A1, MIR518A2, MIR518B, MIR518C, MIR518D, MIR518E, MIR518F, MIR519A1, MIR519A2, MIR519B, MIR519C, MIR519D, MIR519E, MIR520A, MIR520B, MIR520C, MIR520D, MIR520E, MIR520F, MIR520G, MIR520H, MIR521-1, MIR521-2, MIR522, MIR523, MIR524, MIR525, MIR526A1, MIR526A2, MIR526B, MIR527, MIR6802, MIR6803, MIR6804, MIR6805, MIR6806, MIR6807, MIR7975, MIR8061, MIR935, MYADM, MYADM-AS1, MZF1, MZF1-AS1, NAT14, NCR1, SMIM17, NDUFA3, NLRP11, NLRP12, NLRP13, RPL28, NLRP2, NLRP4, NLRP5, RFPL4AL1, RNF225, NLRP7, NLRP8, NLRP9, OSCAR, PEG3, PEG3-AS1, PPP1R12C, PPP6R1, PRKCG, RPS5, PRPF31, PTPRH, RDH13, RFPL4A, RPS9, SBK2, SBK3, SHISA7, SLC27A5, SNORD157, SSC5D, SYT5, TARM1, TMEM238, TFPT, TMC4, TMEM150B, TMEM190, TMEM86B, TNNI3, TNNT1, TRAPPC2B, TRIM28, TSEN34, TTYH1, U2AF2, UBE2M, UBE2S, USP29, VN1R1, VN1R2, VN1R4, ZNF154, VSTM1, ZBTB45, ZFP28, ZFP28-DT, ZIK1, ZIM2, ZIM2-AS1, ZIM3, ZNF132, ZNF134, ZNF135, ZNF160, ZNF17, ZNF211, ZNF256, ZNF264, ZNF274, ZNF304, ZNF324, ZNF324B, ZNF329, ZNF331, ZNF347, ZNF415, ZNF416, ZNF417, ZNF418, ZNF419, ZNF444, ZNF446, ZNF460, ZNF460-AS1, ZNF470, ZNF471, ZNF497, ZNF497-AS1, ZNF524, ZNF525, ZNF530, ZNF543, ZNF544, ZNF547, ZNF548, ZNF549, ZNF550, ZNF551, ZNF552, ZNF579, ZNF580, ZNF581, ZNF582, ZNF582-DT, ZNF583, ZNF584, ZNF586, ZNF587, ZNF587B, ZNF606, ZNF628, ZNF665, ZNF667, ZNF667-AS1, ZNF671, ZNF677, ZNF71, ZNF71-SMIM17, ZNF749, ZNF761, ZNF765, ZNF765-ZNF761, ZNF772, ZNF773, ZNF776, ZNF784, ZNF787, ZNF8, ZNF8-DT, ZNF8-ERVK3-1, ZNF805, ZNF813, ZNF814, ZNF816, ZNF816-ZNF321P, ZNF835, ZNF837, ZNF845, ZNF865, ZSCAN1, ZSCAN18, ZSCAN22, ZSCAN4, ZSCAN5A, ZSCAN5B, ZSCAN5C
See casesPathogenic
(Aug 18, 2010)
no assertion criteria providedVCV000144709
10.
GRCh37:
Chr19:55548514-57493401
GRCh38:
Chr19:55037146-56982033
See casesUncertain significance
(Sep 22, 2014)
no assertion criteria providedVCV000154108
11.
GRCh37:
Chr19:55595687-57483826
GRCh38:
Chr19:55048514-56972458
See casesLikely pathogenic
(Jan 31, 2012)
no assertion criteria providedVCV000149081
12.
GRCh37:
Chr19:55578158-56301236
GRCh38:
Chr19:55066790-55789870
See casesUncertain significance
(Jul 18, 2014)
no assertion criteria providedVCV000153813
13.
GRCh37:
Chr19:55644273-55768277
GRCh38:
Chr19:55132905-55256909
MIR6803, MIR6804, MIR6802, TMEM86B, PTPRH, PPP6R1, SYT5, TNNT1, DNAAF3, TNNI3Nemaline myopathy 5, Hypertrophic cardiomyopathyUncertain significance
(Feb 10, 2020)
criteria provided, single submitterVCV000648531
14.
GRCh37:
Chr19:55652231-55663305
GRCh38:
Chr19:55140863-55151937
TNNI3, TNNT1Nemaline myopathy 5Pathogenic
(Jul 27, 2018)
criteria provided, single submitterVCV000651255
15.
GRCh37:
Chr19:55658387
GRCh38:
Chr19:55147019
TNNI3, TNNT1E12GFamilial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome, Dilated Cardiomyopathy, Recessive, Familial restrictive cardiomyopathy,
not specified, not provided, Nemaline myopathy 5,
Hypertrophic cardiomyopathy
Benign/Likely benign
(Nov 27, 2020)
criteria provided, multiple submitters, no conflictsVCV000031865
16.
GRCh37:
Chr19:55658397
GRCh38:
Chr19:55147029
TNNI3, TNNT1not specified, Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome, Dilated Cardiomyopathy, Recessive,
Nemaline Myopathy, Recessive, Familial restrictive cardiomyopathy, Nemaline myopathy 5,
Hypertrophic cardiomyopathy
Benign/Likely benign
(Dec 4, 2020)
criteria provided, multiple submitters, no conflictsVCV000130603
17.
GRCh37:
Chr19:55660537
GRCh38:
Chr19:55149169
TNNI3, TNNT1Dilated Cardiomyopathy, Recessive, Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome, Nemaline Myopathy, Recessive,
Familial restrictive cardiomyopathy, not specified, not provided,
Nemaline myopathy 5, Hypertrophic cardiomyopathy
Benign/Likely benign
(Jan 13, 2018)
criteria provided, multiple submitters, no conflictsVCV000031855
18.
GRCh37:
Chr19:55662931
GRCh38:
Chr19:55151563
TNNI3not providedBenign
(Jun 14, 2018)
criteria provided, single submitterVCV001256927
19.
GRCh37:
Chr19:55663000
GRCh38:
Chr19:55151632
TNNI3not providedBenign
(Mar 3, 2015)
criteria provided, single submitterVCV001231873
20.
GRCh37:
Chr19:55663080
GRCh38:
Chr19:55151712
TNNI3not providedLikely benign
(Jun 26, 2018)
criteria provided, single submitterVCV001199784
21.
GRCh37:
Chr19:55663096
GRCh38:
Chr19:55151728
TNNI3not providedLikely benign
(Jun 26, 2018)
criteria provided, single submitterVCV001209416
22.
GRCh37:
Chr19:55663158
GRCh38:
Chr19:55151790
TNNI3Dilated cardiomyopathy 2A, Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome, Familial hypertrophic cardiomyopathy 7,
Familial restrictive cardiomyopathy 1
Uncertain significance
(Apr 27, 2017)
criteria provided, single submitterVCV000893714
23.
GRCh37:
Chr19:55663167
GRCh38:
Chr19:55151799
TNNI3Familial restrictive cardiomyopathy 1, Dilated cardiomyopathy 2A, Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome,
Familial hypertrophic cardiomyopathy 7, not provided
Conflicting interpretations of pathogenicity
(Jan 12, 2018)
criteria provided, conflicting interpretationsVCV000188677
24.
GRCh37:
Chr19:55663182-55666218
GRCh38:
Chr19:55151814-55154850
TNNI3Hypertrophic cardiomyopathyUncertain significance
(Apr 27, 2018)
criteria provided, single submitterVCV000583543
25.
GRCh38:
Chr19:55151814-55157609
TNNI3Hypertrophic cardiomyopathyUncertain significance
(Jun 28, 2018)
criteria provided, single submitterVCV000454299
26.
GRCh37:
Chr19:55663186
GRCh38:
Chr19:55151818
TNNI3not providedBenign
(Mar 3, 2015)
criteria provided, single submitterVCV001290283
27.
GRCh37:
Chr19:55663199
GRCh38:
Chr19:55151831
TNNI3CardiomyopathyLikely benign
(Oct 11, 2018)
criteria provided, single submitterVCV000629455
28.
GRCh37:
Chr19:55663203
GRCh38:
Chr19:55151835
TNNI3not specified, not providedUncertain significance
(Jun 11, 2019)
criteria provided, multiple submitters, no conflictsVCV000181596
29.
GRCh37:
Chr19:55663208
GRCh38:
Chr19:55151840
TNNI3E209DFamilial restrictive cardiomyopathy 1Uncertain significanceno assertion criteria providedVCV000545499
30.
GRCh37:
Chr19:55663209
GRCh38:
Chr19:55151841
TNNI3E209Anot provided, Hypertrophic cardiomyopathyUncertain significance
(Nov 1, 2018)
criteria provided, multiple submitters, no conflictsVCV000181595
31.
GRCh37:
Chr19:55663210-55663211
GRCh38:
Chr19:55151842-55151843
TNNI3E209*not provided, Familial restrictive cardiomyopathyConflicting interpretations of pathogenicity
(Jul 3, 2019)
criteria provided, conflicting interpretationsVCV000636992
32.
GRCh37:
Chr19:55663210
GRCh38:
Chr19:55151842
TNNI3E209Knot provided, not specified, Hypertrophic cardiomyopathy
Uncertain significance
(Apr 2, 2021)
criteria provided, multiple submitters, no conflictsVCV000177666
33.
GRCh37:
Chr19:55663211
GRCh38:
Chr19:55151843
TNNI3F208Lnot specifiedUncertain significance
(Jan 22, 2016)
criteria provided, single submitterVCV000229335
34.
GRCh37:
Chr19:55663213
GRCh38:
Chr19:55151845
TNNI3F208Inot specifiedUncertain significance
(Jul 6, 2015)
criteria provided, single submitterVCV000229334
35.
GRCh37:
Chr19:55663214
GRCh38:
Chr19:55151846
TNNI3K207NHypertrophic cardiomyopathyUncertain significance
(Sep 12, 2019)
criteria provided, single submitterVCV000953466
36.
GRCh37:
Chr19:55663215
GRCh38:
Chr19:55151847
TNNI3K207RHypertrophic cardiomyopathyUncertain significance
(Jun 14, 2019)
criteria provided, single submitterVCV000945741
37.
GRCh37:
Chr19:55663217
GRCh38:
Chr19:55151849
TNNI3not providedLikely benign
(Jun 15, 2018)
criteria provided, single submitterVCV000671765
38.
GRCh37:
Chr19:55663218
GRCh38:
Chr19:55151850
TNNI3K206Inot providedPathogenic
(Apr 3, 2013)
criteria provided, single submitterVCV000181594
39.
GRCh37:
Chr19:55663219
GRCh38:
Chr19:55151851
TNNI3K206Enot providedPathogenic
(Jun 28, 2013)
criteria provided, single submitterVCV000181593
40.
GRCh37:
Chr19:55663219
GRCh38:
Chr19:55151851
TNNI3K206QFamilial hypertrophic cardiomyopathy 7Pathogenic
(Aug 1, 1997)
no assertion criteria providedVCV000012420
41.
GRCh37:
Chr19:55663221
GRCh38:
Chr19:55151853
TNNI3K205TCardiovascular phenotypeUncertain significance
(Aug 22, 2016)
criteria provided, single submitterVCV000520294
42.
GRCh37:
Chr19:55663222
GRCh38:
Chr19:55151854
TNNI3K205Qnot specifiedUncertain significance
(Nov 3, 2014)
criteria provided, single submitterVCV000180077
43.
GRCh37:
Chr19:55663223
GRCh38:
Chr19:55151855
TNNI3CardiomyopathyLikely benign
(Jan 6, 2019)
criteria provided, single submitterVCV000918372
44.
GRCh37:
Chr19:55663224
GRCh38:
Chr19:55151856
TNNI3R204Hnot provided, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy,
Hypertrophic cardiomyopathy
Pathogenic/Likely pathogenic
(Oct 8, 2020)
criteria provided, multiple submitters, no conflictsVCV000177679
45.
GRCh37:
Chr19:55663225
GRCh38:
Chr19:55151857
TNNI3R204SHypertrophic cardiomyopathyUncertain significance
(Apr 14, 2017)
criteria provided, single submitterVCV000454412
46.
GRCh37:
Chr19:55663225
GRCh38:
Chr19:55151857
TNNI3R204Cnot specified, not provided, Hypertrophic cardiomyopathy
Conflicting interpretations of pathogenicity
(Oct 26, 2020)
criteria provided, conflicting interpretationsVCV000177631
47.
GRCh37:
Chr19:55663226
GRCh38:
Chr19:55151858
TNNI3not specified, not provided, Hypertrophic cardiomyopathy
Benign/Likely benign
(Dec 29, 2018)
criteria provided, multiple submitters, no conflictsVCV000137688
48.
GRCh37:
Chr19:55663228
GRCh38:
Chr19:55151860
TNNI3G203SFamilial hypertrophic cardiomyopathy 7Pathogenic
(Aug 1, 1997)
no assertion criteria providedVCV000012432
49.
GRCh37:
Chr19:55663229
GRCh38:
Chr19:55151861
TNNI3Cardiomyopathy, not provided, Hypertrophic cardiomyopathy
Likely benign
(Dec 9, 2019)
criteria provided, multiple submitters, no conflictsVCV000695198
50.
GRCh37:
Chr19:55663233
GRCh38:
Chr19:55151865
TNNI3M201THypertrophic cardiomyopathyLikely pathogenic
(Feb 13, 2013)
no assertion criteria providedVCV000177863
51.
GRCh37:
Chr19:55663236
GRCh38:
Chr19:55151868
TNNI3G200VHypertrophic cardiomyopathyUncertain significance
(Feb 23, 2018)
criteria provided, single submitterVCV000410990
52.
GRCh37:
Chr19:55663236
GRCh38:
Chr19:55151868
TNNI3G200EHypertrophic cardiomyopathyUncertain significance
(Feb 15, 2016)
criteria provided, single submitterVCV000237692
53.
GRCh37:
Chr19:55663239
GRCh38:
Chr19:55151871
TNNI3S199Nnot provided, Familial hypertrophic cardiomyopathy 7, Hypertrophic cardiomyopathy
Conflicting interpretations of pathogenicity
(Sep 2, 2020)
criteria provided, conflicting interpretationsVCV000181603
54.
GRCh37:
Chr19:55663240
GRCh38:
Chr19:55151872
TNNI3S199CHypertrophic cardiomyopathyUncertain significance
(Sep 15, 2020)
criteria provided, single submitterVCV001018432
55.
GRCh37:
Chr19:55663241
GRCh38:
Chr19:55151873
TNNI3not providedLikely benign
(Apr 13, 2018)
criteria provided, single submitterVCV000682159
56.
GRCh37:
Chr19:55663243
GRCh38:
Chr19:55151875
TNNI3L198Vnot specified, not provided, Primary familial hypertrophic cardiomyopathy,
Hypertrophic cardiomyopathy
Conflicting interpretations of pathogenicity
(Jul 26, 2020)
criteria provided, conflicting interpretationsVCV000177694
57.
GRCh37:
Chr19:55663248
GRCh38:
Chr19:55151880
TNNI3D196GHypertrophic cardiomyopathyUncertain significance
(Oct 6, 2020)
criteria provided, single submitterVCV001052513
58.
GRCh37:
Chr19:55663249
GRCh38:
Chr19:55151881
TNNI3D196Ynot specified, CardiomyopathyUncertain significance
(Mar 8, 2019)
criteria provided, multiple submitters, no conflictsVCV000179492
59.
GRCh37:
Chr19:55663249
GRCh38:
Chr19:55151881
TNNI3D196NHypertrophic cardiomyopathy, not provided, Cardiomyopathy,
Familial hypertrophic cardiomyopathy 7, Primary familial hypertrophic cardiomyopathy
Pathogenic/Likely pathogenic
(Feb 21, 2021)
criteria provided, multiple submitters, no conflictsVCV000012422
60.
GRCh37:
Chr19:55663250
GRCh38:
Chr19:55151882
TNNI3Cardiomyopathy, not provided, Hypertrophic cardiomyopathy
Likely benign
(Nov 4, 2020)
criteria provided, multiple submitters, no conflictsVCV000918687
61.
GRCh37:
Chr19:55663250
GRCh38:
Chr19:55151882
TNNI3I195MHypertrophic cardiomyopathyUncertain significance
(Mar 25, 2020)
criteria provided, single submitterVCV000862754
62.
GRCh37:
Chr19:55663252
GRCh38:
Chr19:55151884
TNNI3I195Lnot provided, not specifiedUncertain significance
(Sep 9, 2021)
criteria provided, multiple submitters, no conflictsVCV000229333
63.
GRCh37:
Chr19:55663253
GRCh38:
Chr19:55151885
TNNI3N194Knot providedLikely pathogenic
(Jun 23, 2017)
criteria provided, single submitterVCV000181602
64.
GRCh37:
Chr19:55663254
GRCh38:
Chr19:55151886
TNNI3N194THypertrophic cardiomyopathy, Cardiovascular phenotype, Cardiomyopathy
Uncertain significance
(Jan 5, 2021)
criteria provided, multiple submitters, no conflictsVCV000519178
65.
GRCh37:
Chr19:55663254
GRCh38:
Chr19:55151886
TNNI3N194Snot providedLikely pathogenic
(Dec 5, 2013)
criteria provided, single submitterVCV000181592
66.
GRCh37:
Chr19:55663256
GRCh38:
Chr19:55151888
TNNI3K193Nnot providedLikely pathogenic
(Nov 27, 2013)
criteria provided, single submitterVCV000181591
67.
GRCh37:
Chr19:55663256
GRCh38:
Chr19:55151888
TNNI3K193NHypertrophic cardiomyopathy, not specifiedUncertain significance
(Nov 12, 2015)
criteria provided, multiple submitters, no conflictsVCV000043396
68.
GRCh37:
Chr19:55663258
GRCh38:
Chr19:55151890
TNNI3K193Enot provided, Hypertrophic cardiomyopathyUncertain significance
(Aug 27, 2020)
criteria provided, multiple submitters, no conflictsVCV000181590
69.
GRCh37:
Chr19:55663260
GRCh38:
Chr19:55151892
TNNI3R192PHypertrophic cardiomyopathyLikely pathogenic
(Jul 13, 2016)
criteria provided, single submitterVCV000179536
70.
GRCh37:
Chr19:55663260
GRCh38:
Chr19:55151892
TNNI3R192LHypertrophic cardiomyopathyLikely pathogenic
(Feb 13, 2013)
no assertion criteria providedVCV000177831
71.
GRCh37:
Chr19:55663260
GRCh38:
Chr19:55151892
TNNI3R192HHypertrophic cardiomyopathy, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy,
Cardiovascular phenotype, Familial restrictive cardiomyopathy 1, Primary familial hypertrophic cardiomyopathy,
Restrictive cardiomyopathy, not provided
Pathogenic
(Jun 22, 2021)
criteria provided, multiple submitters, no conflictsVCV000012424
72.
GRCh37:
Chr19:55663261
GRCh38:
Chr19:55151893
TNNI3R192Cnot provided, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy
Pathogenic/Likely pathogenic
(Sep 9, 2020)
criteria provided, multiple submitters, no conflictsVCV000165510
73.
GRCh37:
Chr19:55663265
GRCh38:
Chr19:55151897
TNNI3D190Enot providedUncertain significance
(May 24, 2017)
criteria provided, single submitterVCV000430246
74.
GRCh37:
Chr19:55663266-55663272
GRCh38:
Chr19:55151898-55151904
TNNI3V188fsHypertrophic cardiomyopathyUncertain significance
(Apr 1, 2020)
criteria provided, single submitterVCV001004884
75.
GRCh37:
Chr19:55663266
GRCh38:
Chr19:55151898
TNNI3D190GFamilial restrictive cardiomyopathy 1, Familial hypertrophic cardiomyopathy 7Pathogenic
(Jan 1, 2003)
no assertion criteria providedVCV000012423
76.
GRCh37:
Chr19:55663267
GRCh38:
Chr19:55151899
TNNI3D190YHypertrophic cardiomyopathyLikely pathogenic
(Jul 11, 2019)
criteria provided, single submitterVCV000165511
77.
GRCh37:
Chr19:55663268
GRCh38:
Chr19:55151900
TNNI3CardiomyopathyLikely benign
(Oct 16, 2018)
criteria provided, single submitterVCV000629559
78.
GRCh37:
Chr19:55663269
GRCh38:
Chr19:55151901
TNNI3G189EPrimary familial hypertrophic cardiomyopathyUncertain significance
(Dec 20, 2013)
no assertion criteria providedVCV000155841
79.
GRCh37:
Chr19:55663273
GRCh38:
Chr19:55151905
TNNI3V188Lnot providedUncertain significance
(Feb 23, 2012)
criteria provided, single submitterVCV000181589
80.
GRCh37:
Chr19:55663273
GRCh38:
Chr19:55151905
TNNI3V188Mnot specified, not providedConflicting interpretations of pathogenicity
(Jan 27, 2021)
criteria provided, conflicting interpretationsVCV000036883
81.
GRCh37:
Chr19:55663274
GRCh38:
Chr19:55151906
TNNI3E187DHypertrophic cardiomyopathyUncertain significance
(Jun 19, 2019)
criteria provided, single submitterVCV000454411
82.
GRCh37:
Chr19:55663275-55663276
GRCh38:
Chr19:55151907-55151908
TNNI3E187RHypertrophic cardiomyopathyUncertain significance
(Apr 1, 2020)
criteria provided, single submitterVCV001025681
83.
GRCh37:
Chr19:55663276
GRCh38:
Chr19:55151908
TNNI3E187Knot specifiedUncertain significance
(Apr 24, 2014)
criteria provided, single submitterVCV000179710
84.
GRCh37:
Chr19:55663278
GRCh38:
Chr19:55151910
TNNI3R186QHypertrophic cardiomyopathy, Cardiovascular phenotype, not provided,
Cardiomyopathy, Primary familial hypertrophic cardiomyopathy, Familial hypertrophic cardiomyopathy 7
Pathogenic/Likely pathogenic
(Aug 5, 2021)
criteria provided, multiple submitters, no conflictsVCV000043395
85.
GRCh37:
Chr19:55663279
GRCh38:
Chr19:55151911
TNNI3R186Wnot provided, CardiomyopathyConflicting interpretations of pathogenicity
(Nov 15, 2019)
criteria provided, conflicting interpretationsVCV000546467
86.
GRCh37:
Chr19:55663280
GRCh38:
Chr19:55151912
TNNI3N185KDilated cardiomyopathy 1FFPathogenic
(Aug 14, 2009)
no assertion criteria providedVCV000012431
87.
GRCh37:
Chr19:55663281
GRCh38:
Chr19:55151913
TNNI3N185Snot providedLikely pathogenic
(Jun 25, 2012)
criteria provided, single submitterVCV000181588
88.
GRCh37:
Chr19:55663282
GRCh38:
Chr19:55151914
TNNI3N185Ynot providedUncertain significance
(Jun 26, 2020)
criteria provided, single submitterVCV000181601
89.
GRCh37:
Chr19:55663285
GRCh38:
Chr19:55151917
TNNI3E184QHypertrophic cardiomyopathyUncertain significance
(Sep 5, 2019)
criteria provided, single submitterVCV000936081
90.
GRCh37:
Chr19:55663285
GRCh38:
Chr19:55151917
TNNI3E184KPrimary dilated cardiomyopathyLikely pathogenic
(Sep 6, 2013)
no assertion criteria providedVCV000043394
91.
GRCh37:
Chr19:55663286
GRCh38:
Chr19:55151918
TNNI3Hypertrophic cardiomyopathyUncertain significance
(Nov 27, 2018)
criteria provided, single submitterVCV000492986
92.
GRCh37:
Chr19:55663293
GRCh38:
Chr19:55151925
TNNI3Hypertrophic cardiomyopathyUncertain significance
(May 1, 2018)
criteria provided, single submitterVCV000580854
93.
GRCh37:
Chr19:55663295
GRCh38:
Chr19:55151927
TNNI3Hypertrophic cardiomyopathy, not specified, not provided,
Cardiomyopathy
Benign/Likely benign
(Dec 2, 2020)
criteria provided, multiple submitters, no conflictsVCV000043393
94.
GRCh37:
Chr19:55663296
GRCh38:
Chr19:55151928
TNNI3Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome, Dilated cardiomyopathy 2A, Familial hypertrophic cardiomyopathy 7,
Familial restrictive cardiomyopathy 1
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000330198
95.
GRCh37:
Chr19:55663297
GRCh38:
Chr19:55151929
TNNI3not specified, CardiomyopathyConflicting interpretations of pathogenicity
(Dec 10, 2019)
criteria provided, conflicting interpretationsVCV000928213
96.
GRCh37:
Chr19:55663298
GRCh38:
Chr19:55151930
TNNI3CardiomyopathyLikely benign
(Jun 4, 2019)
criteria provided, single submitterVCV000927146
97.
GRCh37:
Chr19:55663299
GRCh38:
Chr19:55151931
TNNI3Cardiomyopathy, not providedBenign/Likely benign
(Sep 9, 2019)
criteria provided, multiple submitters, no conflictsVCV000922772
98.
GRCh37:
Chr19:55663390-55663391
GRCh38:
Chr19:55152022-55152023
TNNI3not providedLikely benign
(Jun 26, 2018)
criteria provided, single submitterVCV001217767
99.
GRCh37:
Chr19:55663397
GRCh38:
Chr19:55152029
TNNI3not providedLikely benign
(Jun 26, 2018)
criteria provided, single submitterVCV001191717
100.
GRCh37:
Chr19:55663442
GRCh38:
Chr19:55152074
TNNI3not providedLikely benign
(Jun 16, 2018)
criteria provided, single submitterVCV000675756
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