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Items: 1 to 100 of 649

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)		Review status
1.
GRCh37:
Chr19:48411797-59051332
GRCh38:
Chr19:47908540-58539965
A1BG, A1BG-AS1, ACP4, ADM5, AKT1S1, ALDH16A1, AP2A1, ASPDH, ATF5, AURKC, BAX, BCAT2, BCL2L12, BRSK1, BSPH1, C19orf18, C19orf73, C19orf81, C19orf84, C19orf85, CA11, CABP5, CACNG6, CACNG7, CACNG8, CARD8, CARD8-AS1, CCDC106, CD33, CD37, CDC42EP5, CEACAM18, CGB1, CGB2, CGB3, CGB5, CGB7, CGB8, CLDND2, CLEC11A, CNOT3, COX6B2, CPT1C, CTU1, CYTH2, DBP, DHDH, DKKL1, DNAAF3, DNAAF3-AS1, DPRX, DUXA, EDDM13, ELSPBP1, EMC10, EMP3, EPN1, EPS8L1, ERVFRD-2, ERVK3-1, ERVV-1, ERVV-2, ETFB, FAM83E, FCAR, FCGRT, FGF21, FIZ1, FLT3LG, FPR1, FPR2, FPR3, FTL, FUT1, FUT2, FUZ, GALP, GARIN5A, GARIN5B, GFY, GP6, GPR32, GRIN2D, GRWD1, GYS1, HAS1, HRC, HSD17B14, HSPBP1, IGLON5, IL11, IL4I1, IRF3, ISOC2, IZUMO1, IZUMO2, JOSD2, KASH5, KCNA7, KCNC3, KCNJ14, KDELR1, 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, LHB, LIG1, LILRA1, LILRA2, LILRA4, LILRA5, LILRA6, LILRB1, LILRB2, LILRB3, LILRB4, LILRB5, LIM2, LIM2-AS1, LIN7B, LINC01530, LINC01864, LINC01869, LINC01872, LINC02560, LMTK3, LOC101928295, LOC101928517, LOC105372430, LOC105372435, LOC105372441, LOC101928804, LOC105372480, LOC105447645, LOC106128905, LOC106128906, LOC107198088, LOC107198089, LOC107983998, LOC109279247, LOC111721713, LOC111811967, LOC111828494, LOC112552168, LOC112552169, LOC112552170, LOC112552171, LOC112552172, LOC112552173, LOC112552177, LOC112552178, LOC112553112, LOC112553113, LOC112553114, LOC112553115, LOC112553116, LOC112553117, LOC112553118, LOC112553119, LOC112577452, LOC112577453, LOC112577454, LOC113939975, LOC116286192, LOC116286193, LOC116286194, LOC116286195, LOC116286196, LOC116286197, LOC117125599, LOC117125600, LOC117125601, LOC117125602, LOC119369027, LOC119369028, LOC119369029, LOC119369030, LOC119369032, LOC119369033, LOC119369034, LOC119369035, LOC119369036, LOC119369037, LOC121627884, LOC121627885, LOC121627886, LOC121627887, LOC121627888, LOC121627889, LOC121852991, LOC121852992, LOC121852993, LOC121852994, LOC122539214, LOC125371542, LOC125371543, LOC125371544, LOC125384522, LOC125384524, LOC125384525, LOC125384526, LOC125384527, LOC125384528, LOC125384529, LOC125384530, LOC125384531, LOC125384532, LOC125384533, LOC125384534, LOC125384541, LOC125384535, LOC125384536, LOC125384537, LOC125384538, LOC125384539, LOC125384540, LOC125384542, LOC125384543, LOC125384544, LOC125384545, LOC125384546, LOC125384548, LOC125384549, LOC125384550, LOC125384551, LOC125384552, LOC125384553, LOC126862920, LOC126862921, LOC126862922, LOC126862923, LOC126862924, LOC126862925, LOC126862926, LOC126862927, LOC126862928, LOC126862929, LOC126862930, LOC126862931, LOC126862932, LOC126862935, LOC126862933, LOC126862934, LOC126862936, LOC126862937, LOC126862938, LOC126862939, LOC126862940, LOC126862941, LOC126862942, LOC126862943, LOC126862944, LOC126862945, LOC126862946, LOC126862947, LRRC4B, MAMSTR, MBOAT7, MED25, MIMT1, MIR10394, MIR125A, MIR1283-1, MIR1283-2, MIR1323, MIR150, MIR371A, MIR371B, MIR372, MIR373, MIR4324, MIR4749, MIR4750, MIR4751, MIR4752, MIR4754, MIR498, MIR5088, 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, MIR6798, MIR6799, MIR6800, MIR6801, MIR6802, MIR6803, MIR6804, MIR6805, MIR6806, MIR7975, MIR8061, MIR8074, MIR935, MIR99B, MIRLET7E, MYADM, MYADM-AS1, MYBPC2, MYH14, NAPSA, NAT14, NKG7, NLRP11, NCR1, NDUFA3, NLRP12, NLRP13, NLRP2, NLRP4, NLRP5, NLRP7, NLRP8, NLRP9, NOSIP, NR1H2, NTF4, NTN5, NUCB1, NUCB1-AS1, NUP62, ODAD1, OSCAR, PEG3, PEG3-AS1, PIH1D1, PLA2G4C, PLA2G4C-AS1, PLEKHA4, PNKP, POLD1, PPFIA3, PPP1R12C, PPP1R15A, PPP2R1A, PPP6R1, PRKCG, PRMT1, PRPF31, PRPF31-AS1, PRR12, PRRG2, PTH2, PTOV1, PTOV1-AS1, PTOV1-AS2, PTPRH, RASIP1, RCN3, RDH13, RFPL4A, RFPL4AL1, RNF225, RPL13A, RPL18, RPL28, RPS11, RPS5, RPS9, RRAS, RUVBL2, SAXO3, SBK2, SBK3, SCAF1, SHANK1, SHISA7, SIGLEC10, SIGLEC10-AS1, SIGLEC11, SIGLEC12, SIGLEC14, SIGLEC16, SIGLEC5, SIGLEC6, SIGLEC7, SIGLEC8, SIGLEC9, SIGLECL1, SLC17A7, SLC27A5, SLC6A16, SMIM17, SMIM47, SNAR-A1, SNAR-A10, SNAR-A11, SNAR-A13, SNAR-A14, SNAR-A2, SNAR-A3, SNAR-A4, SNAR-A5, SNAR-A6, SNAR-A7, SNAR-A8, SNAR-A9, SNAR-B1, SNAR-B2, SNAR-C1, SNAR-C2, SNAR-C3, SNAR-C4, SNAR-C5, SNAR-D, SNAR-F, SNAR-G1, SNAR-G2, SNORD157, SNORD32A, SNORD33, SNORD34, SNORD35A, SNORD35B, SNORD88A, SNORD88B, SNORD88C, SNRNP70, SPACA4, SPACA6, SPACA6-AS1, SPHK2, SPIB, SSC5D, SULT2B1, SYNGR4, SYT3, SYT5, TARM1, TBC1D17, TEAD2, TFPT, TMC4, TMEM143, TMEM150B, TMEM190, TMEM238, TMEM86B, TNNI3, TNNT1, TRAPPC2B, TRPM4, TSEN34, TSKS, TTYH1, TULP2, U2AF2, UBE2S, USP29, VN1R1, VN1R2, VN1R4, VRK3, VSIG10L, VSTM1, ZBTB45, ZFP28, ZFP28-DT, ZIK1, ZIM2, ZIM2-AS1, ZIM3, ZNF114, 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, ZNF470-DT, ZNF471, ZNF473, ZNF473CR, 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, ZNF606-AS1, 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, ZNF888-AS1, ZSCAN1, ZSCAN18, ZSCAN22, ZSCAN4, ZSCAN5A, ZSCAN5A-AS1, ZSCAN5B, ZSCAN5C, ZSWIM9
See casesPathogenic
(Aug 12, 2011)		criteria provided, single submitter
2.
GRCh37:
Chr19:48432832-59083573
GRCh38:
Chr19:47929575-58572206
A1BG, A1BG-AS1, ACP4, ADM5, AKT1S1, ALDH16A1, AP2A1, ASPDH, ATF5, AURKC, BAX, BCAT2, BCL2L12, BRSK1, BSPH1, C19orf18, C19orf73, C19orf81, C19orf84, C19orf85, CA11, CABP5, CACNG6, CACNG7, CACNG8, CARD8, CARD8-AS1, CCDC106, CD33, CD37, CDC42EP5, CEACAM18, CGB1, CGB2, CGB3, CGB5, CGB7, CGB8, CHMP2A, CLDND2, CLEC11A, CYTH2, DBP, CNOT3, COX6B2, CPT1C, CTU1, DHDH, DKKL1, DNAAF3, DNAAF3-AS1, DPRX, DUXA, EDDM13, ELSPBP1, EMC10, EMP3, EPN1, EPS8L1, ERVFRD-2, ERVK3-1, ERVV-1, ERVV-2, ETFB, FAM83E, FCAR, FCGRT, FGF21, FIZ1, FLT3LG, FPR1, FPR2, FPR3, FTL, FUT1, FUT2, FUZ, GALP, GARIN5A, GARIN5B, GFY, HAS1, GP6, GPR32, GRIN2D, GRWD1, GYS1, HRC, HSD17B14, HSPBP1, IGLON5, IL11, IL4I1, IRF3, ISOC2, IZUMO1, IZUMO2, JOSD2, KASH5, KCNA7, KCNC3, KCNJ14, KDELR1, KLK1, KLK10, KIR2DL1, KIR2DL3, KIR2DL4, KIR2DS4, KIR3DL1, KIR3DL2, KIR3DL3, KLK11, KLK12, KLK13, KLK14, KLK15, KLK2, KLK3, KLK4, KLK5, KLK6, KLK7, KLK8, KLK9, KMT5C, LAIR1, LAIR2, LENG1, LENG8, LENG8-AS1, LENG9, LHB, LIG1, LILRA1, LILRA2, LILRA4, LILRA5, LILRA6, LILRB1, LILRB2, LILRB3, LILRB4, LILRB5, LIM2, LIM2-AS1, LIN7B, LINC01530, LINC01864, LINC01869, LINC01872, LINC02560, LMTK3, LOC101928295, LOC101928517, LOC105372430, LOC105372435, LOC105372441, LOC105372480, LOC105447645, LOC106128905, LOC101928804, LOC106128906, LOC107198088, LOC107198089, LOC107983998, LOC109279247, LOC111721713, LOC111811967, LOC111828494, LOC112552168, LOC112552169, LOC112552170, LOC112552171, LOC112552172, LOC112552173, LOC112552177, LOC112552178, LOC112553112, LOC112553113, LOC112553114, LOC112553115, LOC112553116, LOC112553117, LOC112553118, LOC112553119, LOC112577452, LOC112577453, LOC112577454, LOC113939975, LOC116286192, LOC116286193, LOC116286194, LOC116286195, LOC116286196, LOC116286197, LOC117125599, LOC117125600, LOC117125601, LOC117125602, LOC119369027, LOC119369028, LOC119369029, LOC119369030, LOC119369032, LOC119369033, LOC119369034, LOC119369035, LOC119369036, LOC119369037, LOC121627884, LOC121627885, LOC121627886, LOC121627887, LOC121627888, LOC121627889, LOC121852991, LOC121852992, LOC121852993, LOC121852994, LOC122539214, LOC125371542, LOC125371543, LOC125371544, LOC125384522, LOC125384524, LOC125384525, LOC125384526, LOC125384527, LOC125384528, LOC125384529, LOC125384530, LOC125384531, LOC125384532, LOC125384533, LOC125384534, LOC125384535, LOC125384536, LOC125384537, LOC125384538, LOC125384539, LOC125384540, LOC125384541, LOC125384542, LOC125384543, LOC125384544, LOC125384545, LOC125384546, LOC125384548, LOC125384549, LOC125384550, LOC125384551, LOC125384552, LOC125384553, LOC126862920, LOC126862921, LOC126862922, LOC126862923, LOC126862924, LOC126862925, LOC126862926, LOC126862927, LOC126862928, LOC126862929, LOC126862930, LOC126862931, LOC126862936, LOC126862937, LOC126862932, LOC126862935, LOC126862933, LOC126862934, LOC126862938, LOC126862939, LOC126862940, LOC126862941, LOC126862942, LOC126862943, LOC126862944, LOC126862945, LOC126862946, LOC126862947, LRRC4B, MAMSTR, MIR1283-1, MIR1283-2, MBOAT7, MED25, MIMT1, MIR10394, MIR125A, MIR1323, MIR150, MIR371A, MIR371B, MIR372, MIR373, MIR4324, MIR4749, MIR4750, MIR4751, MIR4752, MIR4754, MIR498, MIR5088, 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, MIR6798, MIR6799, MIR6800, MIR6801, MIR6802, MIR6803, MIR6804, MIR6805, MIR6806, MIR6807, MIR7975, MIR8061, MIR8074, MIR935, MIR99B, MIRLET7E, MYADM, MYADM-AS1, MYBPC2, MYH14, MZF1, MZF1-AS1, NAPSA, NAT14, NKG7, NLRP11, NCR1, NDUFA3, NLRP12, NLRP13, NLRP2, NLRP4, NLRP5, NLRP7, NLRP8, NLRP9, NOSIP, NR1H2, NTF4, NTN5, NUCB1, NUCB1-AS1, NUP62, ODAD1, OSCAR, PEG3, PEG3-AS1, PIH1D1, PLA2G4C, PLA2G4C-AS1, PLEKHA4, PNKP, POLD1, PPFIA3, PPP1R12C, PPP1R15A, PPP2R1A, PPP6R1, PRKCG, PRMT1, PRPF31, PRPF31-AS1, PRR12, PRRG2, PTH2, PTOV1, PTOV1-AS1, PTOV1-AS2, PTPRH, RASIP1, RCN3, RDH13, RFPL4A, RFPL4AL1, RNF225, RPL13A, RPL18, RPL28, RPS11, RPS5, SBK3, SCAF1, RPS9, RRAS, RUVBL2, SAXO3, SBK2, SHANK1, SHISA7, SIGLEC10, SIGLEC10-AS1, SIGLEC11, SIGLEC12, SIGLEC14, SIGLEC16, SIGLEC5, SIGLEC6, SIGLEC7, SIGLEC8, SIGLEC9, SIGLECL1, SLC17A7, SLC27A5, SLC6A16, SMIM17, SMIM47, SNAR-A10, SNAR-A11, SNAR-A13, SNAR-A14, SNAR-A2, SNAR-A4, SNAR-A5, SNAR-A6, SNAR-A7, SNAR-A8, SNAR-A9, SNAR-B1, SNAR-B2, SNAR-C1, SNAR-C3, SNAR-C4, SNAR-D, SNAR-F, SNAR-G1, SNAR-G2, SNORD157, SNORD32A, SNORD33, SNORD34, SNORD35A, SNORD35B, SNORD88A, SNORD88B, SNORD88C, SNRNP70, SPACA4, SPACA6, SPACA6-AS1, SPHK2, SPIB, SSC5D, SULT2B1, SYNGR4, SYT3, SYT5, TARM1, TBC1D17, TEAD2, TFPT, TMC4, TMEM143, TMEM150B, TMEM190, TMEM238, TMEM86B, TNNI3, TNNT1, TRAPPC2B, TRIM28, TRPM4, TSEN34, TSKS, TTYH1, TULP2, U2AF2, UBE2M, UBE2S, USP29, VN1R1, VN1R2, VN1R4, VRK3, VSIG10L, ZNF135, VSTM1, ZBTB45, ZFP28, ZFP28-DT, ZIK1, ZIM2, ZIM2-AS1, ZIM3, ZNF114, ZNF132, ZNF134, 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, ZNF470-DT, ZNF471, ZNF473, ZNF473CR, 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, ZNF606-AS1, 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, ZNF888-AS1, ZSCAN1, ZSCAN18, ZSCAN22, ZSCAN4, ZSCAN5A, ZSCAN5A-AS1, ZSCAN5B, ZSCAN5C, ZSWIM9
See casesPathogenic
(Aug 12, 2011)		criteria provided, single submitter
3.
GRCh37:
Chr19:50411089-59069256
GRCh38:
Chr19:49907832-58557889
A1BG, A1BG-AS1, ACP4, ASPDH, ATF5, AURKC, BRSK1, C19orf18, C19orf81, C19orf84, C19orf85, CACNG6, CACNG7, CACNG8, CCDC106, CD33, CDC42EP5, CEACAM18, CHMP2A, CLDND2, CLEC11A, CNOT3, COX6B2, CTU1, DNAAF3, DNAAF3-AS1, DPRX, DUXA, EDDM13, EMC10, EPN1, ETFB, EPS8L1, ERVFRD-2, ERVK3-1, ERVV-1, ERVV-2, FCAR, FIZ1, FPR1, FPR2, FPR3, GALP, GARIN5A, GARIN5B, GP6, GPR32, HAS1, HSPBP1, IGLON5, IL11, IL4I1, ISOC2, IZUMO2, JOSD2, KCNC3, KLK1, KLK10, KLK11, KIR2DL1, KIR2DL3, KIR2DL4, KIR2DS4, KIR3DL1, KIR3DL2, KIR3DL3, 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, LIM2-AS1, LINC01530, LINC01864, LINC01869, LINC01872, LINC02560, LOC101928517, LOC105372441, LOC105372480, LOC106128905, LOC106128906, LOC107198088, LOC101928804, 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, LOC125384525, LOC125384526, LOC125384527, LOC125384528, LOC125384529, LOC125384530, LOC125384531, LOC125384532, LOC125384533, LOC125384534, LOC125384535, LOC125384536, LOC125384537, LOC125384538, LOC125384539, LOC125384540, LOC125384541, LOC125384542, LOC125384543, LOC125384544, LOC125384545, LOC125384546, LOC125384548, LOC125384549, LOC125384550, LOC125384551, LOC125384552, LOC125384553, LOC126862921, LOC126862922, LOC126862923, LOC126862924, LOC126862925, LOC126862926, LOC126862927, LOC126862928, LOC126862929, LOC126862930, LOC126862931, LOC126862936, LOC126862937, LOC126862938, LOC126862939, LOC126862932, LOC126862935, LOC126862933, LOC126862934, LOC126862940, LOC126862941, LOC126862942, LOC126862943, LOC126862944, LOC126862945, LOC126862946, LOC126862947, LRRC4B, MBOAT7, MIMT1, MIR10394, MIR125A, MIR1283-1, MIR1283-2, MIR1323, MIR371A, MIR371B, MIR372, MIR373, MIR4751, 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, NAPSA, NAT14, NKG7, NLRP11, NCR1, NDUFA3, NLRP12, NLRP13, NLRP2, NLRP4, NLRP5, NLRP7, NLRP8, NLRP9, NR1H2, NUP62, OSCAR, PEG3, PEG3-AS1, POLD1, PPP1R12C, PPP2R1A, PPP6R1, PRKCG, PRPF31, PRPF31-AS1, PTPRH, RDH13, RFPL4A, RFPL4AL1, RNF225, RPL28, RPS5, RPS9, SBK2, SBK3, SHANK1, SHISA7, SIGLEC10, SIGLEC10-AS1, SIGLEC11, SIGLEC12, SIGLEC14, SIGLEC16, SIGLEC5, SIGLEC6, SIGLEC7, SIGLEC8, SIGLEC9, SIGLECL1, SLC27A5, SMIM17, SMIM47, SNAR-A10, SNAR-A11, SNAR-A14, SNAR-A4, SNAR-A5, SNAR-A6, SNAR-A7, SNAR-A8, SNAR-A9, SNAR-B1, SNAR-B2, SNAR-D, 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, VRK3, VSIG10L, ZNF154, VSTM1, ZBTB45, ZFP28, ZFP28-DT, ZIK1, ZIM2, ZIM2-AS1, ZIM3, ZNF132, ZNF134, ZNF135, 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, ZNF470-DT, ZNF471, ZNF473, ZNF473CR, 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, ZNF606-AS1, 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, ZNF888-AS1, ZSCAN1, ZSCAN18, ZSCAN22, ZSCAN4, ZSCAN5A, ZSCAN5A-AS1, ZSCAN5B, ZSCAN5C
See casesPathogenic
(Aug 12, 2011)		criteria provided, single submitter
4.
GRCh37:
Chr19:50655777-59092570
GRCh38:
Chr19:50152520-58581203
TSEN34, TTYH1, A1BG, A1BG-AS1, ACP4, ASPDH, AURKC, BRSK1, C19orf18, C19orf81, C19orf84, C19orf85, CACNG6, CACNG7, CACNG8, CCDC106, CD33, CDC42EP5, CEACAM18, CHMP2A, CLDND2, CLEC11A, DPRX, CNOT3, COX6B2, CTU1, DNAAF3, DNAAF3-AS1, DUXA, EDDM13, EMC10, EPN1, EPS8L1, ERVFRD-2, ERVK3-1, ERVV-1, ERVV-2, ETFB, GALP, GARIN5A, FCAR, FIZ1, FPR1, FPR2, FPR3, 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, LIM2-AS1, LINC01530, LINC01864, LINC01869, LINC01872, LINC02560, LOC101928517, LOC105372441, LOC105372480, LOC101928804, 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, LOC125384525, LOC125384526, LOC125384527, LOC125384528, LOC125384529, LOC125384530, LOC125384531, LOC125384532, LOC125384533, LOC125384534, LOC125384535, LOC125384536, LOC125384537, LOC125384538, LOC125384539, LOC125384540, LOC125384541, LOC125384542, LOC125384543, LOC125384544, LOC125384545, LOC125384546, LOC125384548, LOC125384549, LOC125384550, LOC125384551, LOC125384552, LOC125384553, LOC126862921, LOC126862922, LOC126862923, LOC126862924, LOC126862925, LOC126862926, LOC126862927, LOC126862928, LOC126862929, LOC126862930, LOC126862931, LOC126862936, LOC126862937, LOC126862938, LOC126862939, LOC126862932, LOC126862935, LOC126862933, LOC126862934, LOC126862940, LOC126862941, LOC126862942, LOC126862943, LOC126862944, LOC126862945, LOC126862946, LOC126862947, 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, PRPF31-AS1, 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, SMIM47, SNAR-F, SNORD157, SNORD88A, SNORD88B, SNORD88C, SPACA6, SPACA6-AS1, SPIB, SSC5D, SYT3, SYT5, TARM1, TFPT, U2AF2, UBE2M, TMC4, TMEM150B, TMEM190, TMEM238, TMEM86B, TNNI3, TNNT1, TRAPPC2B, TRIM28, UBE2S, USP29, 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, ZNF470-DT, 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, ZNF606-AS1, 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, ZNF888-AS1, ZSCAN1, ZSCAN18, ZSCAN22, ZSCAN4, ZSCAN5A, ZSCAN5A-AS1, ZSCAN5B, ZSCAN5C
See casesPathogenic
(Oct 19, 2010)		no assertion criteria provided
5.
GRCh37:
Chr19:50694476-59047185
GRCh38:
Chr19:50191219-58535818
TMC4, TMEM150B, TMEM190, A1BG, A1BG-AS1, ACP4, ASPDH, AURKC, BRSK1, C19orf18, C19orf81, C19orf84, C19orf85, CACNG6, CACNG7, CACNG8, CCDC106, CD33, CDC42EP5, CEACAM18, CLDND2, CLEC11A, CNOT3, COX6B2, CTU1, DNAAF3, DNAAF3-AS1, DPRX, DUXA, EDDM13, 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, JOSD2, KCNC3, KLK1, KLK10, KLK11, KLK12, KIR2DL1, KIR2DL3, KIR2DL4, KIR2DS4, KIR3DL1, KIR3DL2, KIR3DL3, 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, LIM2-AS1, LINC01530, LINC01864, LINC01869, LINC01872, LINC02560, LOC101928517, LOC105372441, LOC105372480, LOC106128905, LOC106128906, LOC107198088, LOC101928804, 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, LOC125384525, LOC125384526, LOC125384527, LOC125384528, LOC125384529, LOC125384530, LOC125384531, LOC125384532, LOC125384533, LOC125384534, LOC125384535, LOC125384536, LOC125384537, LOC125384538, LOC125384539, LOC125384540, LOC125384541, LOC125384542, LOC125384543, LOC125384544, LOC125384545, LOC125384546, LOC125384548, LOC125384549, LOC125384550, LOC125384551, LOC125384552, LOC125384553, LOC126862921, LOC126862922, LOC126862923, LOC126862924, LOC126862925, LOC126862926, LOC126862927, LOC126862928, LOC126862929, LOC126862930, LOC126862931, LOC126862935, LOC126862936, LOC126862937, LOC126862938, LOC126862939, LOC126862932, LOC126862940, LOC126862933, LOC126862934, LOC126862941, LOC126862942, LOC126862943, LOC126862944, LOC126862945, LOC126862946, LOC126862947, 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, MIR7975, MIR8061, MIR8074, MIR935, MIR99B, MIRLET7E, MYADM, MYADM-AS1, MYBPC2, MYH14, 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, PRPF31-AS1, 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, SMIM47, SNAR-F, SNORD157, SNORD88A, SNORD88B, SNORD88C, SPACA6, SPACA6-AS1, SPIB, SSC5D, SYT3, SYT5, TMEM238, TMEM86B, TARM1, TFPT, VN1R4, VSIG10L, TNNI3, TNNT1, TRAPPC2B, TSEN34, TTYH1, U2AF2, UBE2S, USP29, VN1R1, VN1R2, 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, ZNF470-DT, 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, ZNF606-AS1, 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, ZNF888-AS1, ZSCAN1, ZSCAN18, ZSCAN22, ZSCAN4, ZSCAN5A, ZSCAN5A-AS1, ZSCAN5B, ZSCAN5C
See casesPathogenic
(Aug 12, 2011)		criteria provided, single submitter
6.
GRCh37:
Chr19:51644775-59051332
GRCh38:
Chr19:51141518-58539965
A1BG, A1BG-AS1, AURKC, BRSK1, C19orf18, C19orf84, C19orf85, CACNG6, CACNG7, CACNG8, CCDC106, CD33, CDC42EP5, CEACAM18, CLDND2, DUXA, CNOT3, COX6B2, DNAAF3, DNAAF3-AS1, DPRX, EDDM13, EPN1, EPS8L1, ERVFRD-2, ERVK3-1, ERVV-1, ERVV-2, ETFB, FCAR, FIZ1, FPR1, FPR2, FPR3, GALP, GARIN5B, ISOC2, GP6, HAS1, HSPBP1, IGLON5, IL11, 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, LIM2, LIM2-AS1, LINC01530, LINC01864, LINC01872, LINC02560, LOC101928517, LOC105372480, LOC107983998, LOC112553113, LOC112553114, LOC112553115, LOC101928804, LOC112553116, LOC112553117, LOC112553118, LOC112553119, LOC112577452, LOC112577453, LOC112577454, LOC113939975, LOC116286196, LOC116286197, LOC121627887, LOC121627888, LOC121627889, LOC121852993, LOC121852994, LOC122539214, LOC125384528, LOC125384529, LOC125384530, LOC125384531, LOC125384532, LOC125384533, LOC125384534, LOC125384535, LOC125384536, LOC125384537, LOC125384538, LOC125384539, LOC125384540, LOC125384541, LOC125384542, LOC125384543, LOC125384544, LOC125384545, LOC125384546, LOC125384548, LOC125384549, LOC125384550, LOC125384551, LOC125384552, LOC125384553, LOC126862921, LOC126862922, LOC126862923, LOC126862924, LOC126862925, LOC126862926, LOC126862927, LOC126862928, LOC126862929, LOC126862930, LOC126862931, LOC126862932, LOC126862935, LOC126862933, LOC126862934, LOC126862936, LOC126862937, LOC126862938, LOC126862939, LOC126862940, LOC126862941, LOC126862942, LOC126862943, LOC126862944, LOC126862945, LOC126862946, LOC126862947, 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, MIR7975, MIR8061, MIR8074, MIR935, MIR99B, MIRLET7E, MYADM, MYADM-AS1, NAT14, NCR1, NDUFA3, NKG7, NLRP11, NLRP12, NLRP13, NLRP2, NLRP4, NLRP5, RPS5, SIGLEC10-AS1, NLRP7, NLRP8, NLRP9, OSCAR, PEG3, PEG3-AS1, PPP1R12C, PPP2R1A, PPP6R1, PRKCG, PRPF31, PRPF31-AS1, PTPRH, RDH13, RFPL4A, RFPL4AL1, RNF225, RPL28, RPS9, SBK2, SBK3, SHISA7, SIGLEC10, SIGLEC12, SIGLEC14, SIGLEC5, SIGLEC6, SIGLEC7, SIGLEC8, SIGLECL1, SLC27A5, SMIM17, SNORD157, SPACA6, SPACA6-AS1, SSC5D, SYT5, TARM1, TFPT, TMC4, TMEM150B, TMEM190, TMEM238, TMEM86B, TNNI3, TNNT1, TRAPPC2B, TSEN34, TTYH1, U2AF2, UBE2S, USP29, 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, ZNF470-DT, 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, ZNF606-AS1, 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, ZNF888-AS1, ZSCAN1, ZSCAN18, ZSCAN22, ZSCAN4, ZSCAN5A, ZSCAN5A-AS1, ZSCAN5B, ZSCAN5C
See casesPathogenic
(Aug 12, 2011)		criteria provided, single submitter
7.
GRCh37:
Chr19:52647126-58956888
GRCh38:
Chr19:52143873-58445521
A1BG, A1BG-AS1, AURKC, BRSK1, C19orf18, C19orf85, CACNG6, CACNG7, CACNG8, CCDC106, CDC42EP5, CNOT3, COX6B2, DNAAF3, DNAAF3-AS1, 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, LOC105372480, LOC107983998, LOC112553113, LOC101928804, LOC112553114, LOC112553115, LOC112553116, LOC112553117, LOC112553118, LOC112553119, LOC112577452, LOC112577453, LOC113939975, LOC116286196, LOC116286197, LOC121627887, LOC121627888, LOC121627889, LOC121852993, LOC121852994, LOC122539214, LOC125384532, LOC125384533, LOC125384534, LOC125384535, LOC125384536, LOC125384537, LOC125384538, LOC125384539, LOC125384540, LOC125384541, LOC125384542, LOC125384543, LOC125384544, LOC125384545, LOC125384546, LOC125384548, LOC125384549, LOC125384550, LOC125384551, LOC125384552, LOC126862924, LOC126862925, LOC126862926, LOC126862927, LOC126862928, LOC126862929, LOC126862930, LOC126862931, LOC126862936, LOC126862937, LOC126862938, LOC126862939, LOC126862940, LOC126862932, LOC126862935, LOC126862933, LOC126862934, LOC126862941, LOC126862942, LOC126862943, LOC126862944, LOC126862945, LOC126862946, LOC126862947, 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, NDUFA3, NLRP11, NLRP12, NLRP13, NLRP2, NLRP4, NLRP5, NLRP7, NLRP8, NLRP9, PPP6R1, OSCAR, PEG3, PEG3-AS1, PPP1R12C, PPP2R1A, PRKCG, PRPF31, PRPF31-AS1, PTPRH, RDH13, RFPL4A, RFPL4AL1, RNF225, RPL28, RPS5, RPS9, SBK2, SBK3, SHISA7, SMIM17, SNORD157, SSC5D, SYT5, TARM1, TFPT, TMC4, TMEM150B, TMEM190, TMEM238, TMEM86B, TNNI3, TNNT1, TRAPPC2B, TSEN34, TTYH1, U2AF2, UBE2S, USP29, VN1R1, VN1R2, VN1R4, VSTM1, ZFP28, ZFP28-DT, ZIK1, ZIM2, ZIM2-AS1, ZIM3, ZNF132, ZNF134, ZNF135, ZNF154, ZNF160, ZNF17, ZNF211, ZNF256, ZNF264, ZNF274, ZNF28, ZNF304, ZNF320, ZNF324B, ZNF329, ZNF331, ZNF347, ZNF415, ZNF416, ZNF417, ZNF418, ZNF419, ZNF444, ZNF460, ZNF460-AS1, ZNF468, ZNF470, ZNF470-DT, 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, ZNF606-AS1, 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, ZNF888-AS1, ZSCAN1, ZSCAN18, ZSCAN22, ZSCAN4, ZSCAN5A, ZSCAN5A-AS1, ZSCAN5B, ZSCAN5C
See casesPathogenic
(Aug 19, 2013)		no assertion criteria provided
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, DNAAF3-AS1, 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, LOC105372480, LOC107983998, LOC112553113, LOC101928804, LOC112553114, LOC112553115, LOC112553116, LOC112553117, LOC112553118, LOC112553119, LOC112577452, LOC112577453, LOC112577454, LOC113939975, LOC116286196, LOC116286197, LOC121627888, LOC121627889, LOC121852993, LOC121852994, LOC122539214, LOC125384532, LOC125384533, LOC125384534, LOC125384535, LOC125384536, LOC125384537, LOC125384538, LOC125384539, LOC125384540, LOC125384541, LOC125384542, LOC125384543, LOC125384544, LOC125384545, LOC125384546, LOC125384548, LOC125384549, LOC125384550, LOC125384551, LOC125384552, LOC125384553, LOC126862927, LOC126862928, LOC126862929, LOC126862930, LOC126862931, LOC126862932, LOC126862933, LOC126862934, LOC126862935, LOC126862936, LOC126862937, LOC126862938, LOC126862939, LOC126862940, LOC126862941, LOC126862942, LOC126862943, LOC126862944, LOC126862945, LOC126862946, LOC126862947, MIR371A, MBOAT7, MIMT1, MIR10394, MIR1283-1, MIR1283-2, MIR1323, 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, PRKCG, OSCAR, PEG3, PEG3-AS1, PPP1R12C, PPP6R1, PRPF31, PRPF31-AS1, PTPRH, RDH13, RFPL4A, RFPL4AL1, RNF225, RPL28, RPS5, RPS9, SBK2, SBK3, SHISA7, SLC27A5, SMIM17, SNORD157, SSC5D, SYT5, VN1R4, TARM1, TFPT, VN1R1, VN1R2, TMC4, TMEM150B, TMEM190, TMEM238, TMEM86B, TNNI3, TNNT1, TRAPPC2B, TRIM28, UBE2S, USP29, TSEN34, TTYH1, U2AF2, UBE2M, VSTM1, ZBTB45, ZFP28, ZFP28-DT, ZIK1, ZIM2, ZIM2-AS1, ZIM3, ZNF132, ZNF134, ZNF135, ZNF154, 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, ZNF470-DT, 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, ZNF606-AS1, ZNF611, 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, ZNF83, ZNF835, ZNF837, ZNF845, ZNF865, ZNF888, ZNF888-AS1, ZSCAN1, ZSCAN18, ZSCAN22, ZSCAN4, ZSCAN5A, ZSCAN5A-AS1, ZSCAN5B, ZSCAN5C
See casesPathogenic
(Aug 19, 2010)		no assertion criteria provided
9.
GRCh37:
Chr19:53458309-59092570
GRCh38:
Chr19:52955056-58581203
C19orf85, A1BG, A1BG-AS1, AURKC, BRSK1, C19orf18, CACNG6, CACNG7, CACNG8, CCDC106, CDC42EP5, CHMP2A, CNOT3, COX6B2, DNAAF3, DNAAF3-AS1, 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, LOC105372480, LOC107983998, LOC112553113, LOC101928804, LOC112553114, LOC112553115, LOC112553116, LOC112553117, LOC112553118, LOC112553119, LOC112577452, LOC112577453, LOC112577454, LOC113939975, LOC116286196, LOC116286197, LOC121627888, LOC121627889, LOC121852993, LOC121852994, LOC125384533, LOC125384534, LOC125384535, LOC125384536, LOC125384537, LOC125384538, LOC125384539, LOC125384540, LOC125384541, LOC125384542, LOC125384543, LOC125384544, LOC125384545, LOC125384546, LOC125384548, LOC125384549, LOC125384550, LOC125384551, LOC125384552, LOC125384553, LOC126862928, LOC126862929, LOC126862930, LOC126862931, LOC126862932, LOC126862935, LOC126862933, LOC126862934, LOC126862936, LOC126862937, LOC126862938, LOC126862939, LOC126862940, LOC126862941, LOC126862942, LOC126862943, LOC126862944, LOC126862945, LOC126862946, LOC126862947, 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, NLRP11, NCR1, NDUFA3, NLRP12, NLRP13, NLRP2, NLRP4, NLRP5, NLRP7, NLRP8, NLRP9, OSCAR, PEG3, PEG3-AS1, PPP1R12C, PPP6R1, PRKCG, RPS5, PRPF31, PRPF31-AS1, PTPRH, RDH13, RFPL4A, RFPL4AL1, RNF225, RPL28, 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, ZNF304, ZNF324, ZNF324B, ZNF329, ZNF331, ZNF347, ZNF415, ZNF416, ZNF417, ZNF418, ZNF419, ZNF444, ZNF446, ZNF460, ZNF460-AS1, ZNF470, ZNF470-DT, 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, ZNF606-AS1, 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, ZSCAN5A-AS1, ZSCAN5B, ZSCAN5C
See casesPathogenic
(Aug 18, 2010)		no assertion criteria provided
10.
GRCh37:
Chr19:55548514-57493401
GRCh38:
Chr19:55037146-56982033
BRSK1, C19orf85, CCDC106, COX6B2, DNAAF3, DNAAF3-AS1, EDDM13, EPN1, EPS8L1, FIZ1, GALP, GARIN5B, GP6, HSPBP1, IL11, ISOC2, KMT5C, LINC01864, LOC107983998, LOC112553115, LOC112553116, LOC112553117, LOC112553118, LOC112553119, LOC113939975, LOC116286196, LOC116286197, LOC121852994, LOC125384537, LOC125384538, LOC125384539, LOC125384540, LOC125384541, LOC125384542, LOC125384543, LOC125384544, LOC125384545, LOC125384546, LOC126862934, LOC126862935, LOC126862936, LOC126862937, LOC126862938, LOC126862939, LOC126862940, LOC126862941, LOC126862942, LOC126862943, MIMT1, MIR6802, MIR6803, MIR6804, MIR6805, MIR7975, NAT14, NLRP11, NLRP13, NLRP4, NLRP5, NLRP8, NLRP9, PEG3, PEG3-AS1, PPP1R12C, PPP6R1, PTPRH, RDH13, RFPL4A, RFPL4AL1, RPL28, SBK2, SBK3, SHISA7, SMIM17, SNORD157, SSC5D, SYT5, TMEM150B, TMEM190, TMEM238, TMEM86B, TNNI3, TNNT1, U2AF2, UBE2S, ZFP28, ZFP28-DT, ZIM2, ZIM2-AS1, ZNF444, ZNF470, ZNF470-DT, ZNF471, ZNF524, ZNF579, ZNF580, ZNF581, ZNF582, ZNF582-DT, ZNF583, ZNF628, ZNF667, ZNF667-AS1, ZNF71, ZNF71-SMIM17, ZNF784, ZNF787, ZNF835, ZNF865, ZSCAN5A, ZSCAN5A-AS1, ZSCAN5B, ZSCAN5C
See casesUncertain significance
(Sep 22, 2014)		no assertion criteria provided
11.
GRCh37:
Chr19:55595687-57483826
GRCh38:
Chr19:55048514-56972458
BRSK1, C19orf85, CCDC106, COX6B2, DNAAF3, DNAAF3-AS1, EDDM13, EPN1, EPS8L1, FIZ1, GALP, GARIN5B, HSPBP1, IL11, ISOC2, KMT5C, LINC01864, LOC107983998, LOC112553115, LOC112553116, LOC112553117, LOC112553118, LOC113939975, LOC116286196, LOC116286197, LOC121852994, LOC125384537, LOC125384538, LOC125384539, LOC125384540, LOC125384541, LOC125384542, LOC125384543, LOC125384544, LOC125384545, LOC125384546, LOC126862934, LOC126862935, LOC126862936, LOC126862937, LOC126862938, LOC126862939, LOC126862940, LOC126862941, LOC126862942, LOC126862943, MIMT1, MIR6802, MIR6803, MIR6804, MIR6805, MIR7975, NAT14, NLRP11, NLRP13, NLRP4, NLRP5, NLRP8, NLRP9, PEG3, PEG3-AS1, PPP1R12C, PPP6R1, PTPRH, RDH13, RFPL4A, RFPL4AL1, RPL28, SBK2, SBK3, SHISA7, SMIM17, SNORD157, SSC5D, SYT5, TMEM150B, TMEM190, TMEM238, TMEM86B, TNNI3, TNNT1, U2AF2, UBE2S, ZFP28, ZFP28-DT, ZIM2, ZIM2-AS1, ZNF444, ZNF470, ZNF470-DT, ZNF471, ZNF524, ZNF579, ZNF580, ZNF581, ZNF582, ZNF582-DT, ZNF583, ZNF628, ZNF667, ZNF667-AS1, ZNF71, ZNF71-SMIM17, ZNF784, ZNF787, ZNF835, ZNF865, ZSCAN5A, ZSCAN5A-AS1, ZSCAN5B, ZSCAN5C
See casesLikely pathogenic
(Jan 31, 2012)		no assertion criteria provided
12.
GRCh37:
Chr19:55578158-56301236
GRCh38:
Chr19:55066790-55789870
BRSK1, C19orf85, CCDC106, COX6B2, DNAAF3, DNAAF3-AS1, EPN1, EPS8L1, FIZ1, GARIN5B, HSPBP1, IL11, ISOC2, KMT5C, LOC107983998, LOC112553115, LOC116286196, LOC121852994, LOC125384537, LOC125384538, LOC125384539, LOC125384540, LOC125384541, LOC125384542, LOC125384543, LOC125384544, LOC125384545, LOC125384546, MIR6802, MIR6803, MIR6804, MIR6805, MIR7975, NAT14, NLRP11, NLRP9, PPP1R12C, PPP6R1, PTPRH, RDH13, RFPL4A, RFPL4AL1, RPL28, SBK2, SBK3, SHISA7, SNORD157, SSC5D, SYT5, TMEM150B, TMEM190, TMEM238, TMEM86B, TNNI3, TNNT1, U2AF2, UBE2S, ZNF524, ZNF579, ZNF580, ZNF581, ZNF628, ZNF784, ZNF865
See casesUncertain significance
(Jul 18, 2014)		no assertion criteria provided
13.
GRCh37:
Chr19:55644273-55768277
GRCh38:
Chr19:55132905-55256909
DNAAF3-AS1, MIR6802, MIR6803, MIR6804, PPP6R1, DNAAF3, PTPRH, SYT5, TMEM86B, TNNI3, TNNT1
Nemaline myopathy 5, Hypertrophic cardiomyopathyUncertain significance
(Feb 10, 2020)		criteria provided, single submitter
14.
GRCh37:
Chr19:55652231-55663305
GRCh38:
Chr19:55140863-55151937
TNNI3, TNNT1Nemaline myopathy 5Pathogenic
(Jul 27, 2018)		criteria provided, single submitter
15.
GRCh37:
Chr19:55658387
GRCh38:
Chr19:55147019
TNNI3, TNNT1E12GFamilial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome, Dilated Cardiomyopathy, Recessive, Familial restrictive cardiomyopathy,
not specified, Nemaline myopathy 5, Hypertrophic cardiomyopathy
Benign/Likely benign
(Nov 1, 2022)		criteria provided, multiple submitters, no conflicts
16.
GRCh37:
Chr19:55658397
GRCh38:
Chr19:55147029
TNNI3, TNNT1Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome, Dilated Cardiomyopathy, Recessive, Nemaline Myopathy, Recessive,
not specified, Familial restrictive cardiomyopathy, Nemaline myopathy 5,
Hypertrophic cardiomyopathy		Benign/Likely benign
(Nov 1, 2022)		criteria provided, multiple submitters, no conflicts
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, Nemaline myopathy 5,
Hypertrophic cardiomyopathy		Benign/Likely benign
(Jan 13, 2018)		criteria provided, multiple submitters, no conflicts
18.
GRCh37:
Chr19:55662931
GRCh38:
Chr19:55151563
TNNI3not providedBenign
(Jun 14, 2018)		criteria provided, single submitter
19.
GRCh37:
Chr19:55663000
GRCh38:
Chr19:55151632
TNNI3not providedBenign
(Mar 3, 2015)		criteria provided, single submitter
20.
GRCh37:
Chr19:55663080
GRCh38:
Chr19:55151712
TNNI3not providedLikely benign
(Jun 26, 2018)		criteria provided, single submitter
21.
GRCh37:
Chr19:55663096
GRCh38:
Chr19:55151728
TNNI3not providedLikely benign
(Jun 26, 2018)		criteria provided, single submitter
22.
GRCh37:
Chr19:55663158
GRCh38:
Chr19:55151790
TNNI3Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome, Dilated cardiomyopathy 2A, Cardiomyopathy, familial restrictive, 1,
Hypertrophic cardiomyopathy 7		Uncertain significance
(Apr 27, 2017)		criteria provided, single submitter
23.
GRCh37:
Chr19:55663167
GRCh38:
Chr19:55151799
TNNI3Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome, not provided, Hypertrophic cardiomyopathy 7,
Cardiomyopathy, familial restrictive, 1, Dilated cardiomyopathy 2A		Conflicting interpretations of pathogenicity
(Jan 12, 2018)		criteria provided, conflicting interpretations
24.
GRCh37:
Chr19:55663182-55666218
GRCh38:
Chr19:55151814-55154850
TNNI3Hypertrophic cardiomyopathyUncertain significance
(Apr 27, 2018)		criteria provided, single submitter
25.
GRCh38:
Chr19:55151814-55157609
TNNI3Hypertrophic cardiomyopathyUncertain significance
(Jun 28, 2018)		criteria provided, single submitter
26.
GRCh37:
Chr19:55663186
GRCh38:
Chr19:55151818
TNNI3not providedBenign
(Mar 3, 2015)		criteria provided, single submitter
27.
GRCh37:
Chr19:55663199
GRCh38:
Chr19:55151831
TNNI3CardiomyopathyLikely benign
(Oct 11, 2018)		criteria provided, single submitter
28.
GRCh37:
Chr19:55663203
GRCh38:
Chr19:55151835
TNNI3not specified, not provided, Hypertrophic cardiomyopathy
Uncertain significance
(Mar 18, 2022)		criteria provided, multiple submitters, no conflicts
29.
GRCh37:
Chr19:55663206
GRCh38:
Chr19:55151838
TNNI3S210NCardiovascular phenotypeUncertain significance
(Oct 11, 2021)		criteria provided, single submitter
30.
GRCh37:
Chr19:55663208
GRCh38:
Chr19:55151840
TNNI3E209DCardiomyopathy, familial restrictive, 1Uncertain significanceno assertion criteria provided
31.
GRCh37:
Chr19:55663209
GRCh38:
Chr19:55151841
TNNI3E209Anot provided, Hypertrophic cardiomyopathy, Cardiovascular phenotype
Uncertain significance
(May 29, 2022)		criteria provided, multiple submitters, no conflicts
32.
GRCh37:
Chr19:55663210-55663211
GRCh38:
Chr19:55151842-55151843
TNNI3E209*not provided, Familial restrictive cardiomyopathyConflicting interpretations of pathogenicity
(Jul 3, 2019)		criteria provided, conflicting interpretations
33.
GRCh37:
Chr19:55663210
GRCh38:
Chr19:55151842
TNNI3E209Knot specified, not provided, Hypertrophic cardiomyopathy
Uncertain significance
(Apr 18, 2022)		criteria provided, multiple submitters, no conflicts
34.
GRCh37:
Chr19:55663211
GRCh38:
Chr19:55151843
TNNI3F208Lnot specifiedUncertain significance
(Jan 22, 2016)		criteria provided, single submitter
35.
GRCh37:
Chr19:55663213
GRCh38:
Chr19:55151845
TNNI3F208Inot specifiedUncertain significance
(Jul 6, 2015)		criteria provided, single submitter
36.
GRCh37:
Chr19:55663214
GRCh38:
Chr19:55151846
TNNI3K207NHypertrophic cardiomyopathyUncertain significance
(Aug 26, 2021)		criteria provided, single submitter
37.
GRCh37:
Chr19:55663215
GRCh38:
Chr19:55151847
TNNI3K207RHypertrophic cardiomyopathy, Cardiomyopathy, familial restrictive, 1, Hypertrophic cardiomyopathy 7,
Dilated cardiomyopathy 2A, Dilated cardiomyopathy 1FF		Uncertain significance
(Aug 30, 2022)		criteria provided, multiple submitters, no conflicts
38.
GRCh37:
Chr19:55663217
GRCh38:
Chr19:55151849
TNNI3not providedLikely benign
(Jun 15, 2018)		criteria provided, single submitter
39.
GRCh37:
Chr19:55663218
GRCh38:
Chr19:55151850
TNNI3K206Inot providedPathogenic
(Apr 3, 2013)		criteria provided, single submitter
40.
GRCh37:
Chr19:55663219
GRCh38:
Chr19:55151851
TNNI3K206Enot providedPathogenic
(Jun 28, 2013)		criteria provided, single submitter
41.
GRCh37:
Chr19:55663219
GRCh38:
Chr19:55151851
TNNI3K206QHypertrophic cardiomyopathy 7Pathogenic
(Aug 1, 1997)		no assertion criteria provided
42.
GRCh37:
Chr19:55663221
GRCh38:
Chr19:55151853
TNNI3K205TCardiovascular phenotype, not providedUncertain significance
(Mar 6, 2023)		criteria provided, multiple submitters, no conflicts
43.
GRCh37:
Chr19:55663222
GRCh38:
Chr19:55151854
TNNI3K205Qnot specifiedUncertain significance
(Nov 3, 2014)		criteria provided, single submitter
44.
GRCh37:
Chr19:55663223
GRCh38:
Chr19:55151855
TNNI3CardiomyopathyLikely benign
(Jan 6, 2019)		criteria provided, single submitter
45.
GRCh37:
Chr19:55663224
GRCh38:
Chr19:55151856
TNNI3R204LCardiomyopathyLikely pathogenic
(Jun 19, 2023)		criteria provided, single submitter
46.
GRCh37:
Chr19:55663224
GRCh38:
Chr19:55151856
TNNI3R204HCardiovascular phenotype, not provided, Hypertrophic cardiomyopathy
Pathogenic/Likely pathogenic
(Jan 13, 2022)		criteria provided, multiple submitters, no conflicts
47.
GRCh37:
Chr19:55663225
GRCh38:
Chr19:55151857
TNNI3R204SHypertrophic cardiomyopathyUncertain significance
(Aug 31, 2021)		criteria provided, single submitter
48.
GRCh37:
Chr19:55663225
GRCh38:
Chr19:55151857
TNNI3R204Cnot specified, Cardiomyopathy, not provided,
Hypertrophic cardiomyopathy		Conflicting interpretations of pathogenicity
(Aug 30, 2022)		criteria provided, conflicting interpretations
49.
GRCh37:
Chr19:55663226
GRCh38:
Chr19:55151858
TNNI3not specified, Hypertrophic cardiomyopathyBenign/Likely benign
(Jun 23, 2022)		criteria provided, multiple submitters, no conflicts
50.
GRCh37:
Chr19:55663227
GRCh38:
Chr19:55151859
TNNI3G203DHypertrophic cardiomyopathyUncertain significance
(Mar 5, 2022)		criteria provided, single submitter
51.
GRCh37:
Chr19:55663228
GRCh38:
Chr19:55151860
TNNI3G203SHypertrophic cardiomyopathy 7Pathogenic
(Aug 1, 1997)		no assertion criteria provided
52.
GRCh37:
Chr19:55663229
GRCh38:
Chr19:55151861
TNNI3Cardiomyopathy, Hypertrophic cardiomyopathyLikely benign
(Feb 6, 2022)		criteria provided, multiple submitters, no conflicts
53.
GRCh37:
Chr19:55663230
GRCh38:
Chr19:55151862
TNNI3E202GCardiovascular phenotypeUncertain significance
(Jan 19, 2022)		criteria provided, single submitter
54.
GRCh37:
Chr19:55663231
GRCh38:
Chr19:55151863
TNNI3E202QCardiovascular phenotype, not providedUncertain significance
(May 2, 2022)		criteria provided, multiple submitters, no conflicts
55.
GRCh37:
Chr19:55663232
GRCh38:
Chr19:55151864
TNNI3M201IHypertrophic cardiomyopathyUncertain significance
(Jun 28, 2022)		criteria provided, single submitter
56.
GRCh37:
Chr19:55663233
GRCh38:
Chr19:55151865
TNNI3M201THypertrophic cardiomyopathyUncertain significance
(Sep 1, 2021)		criteria provided, single submitter
57.
GRCh37:
Chr19:55663236
GRCh38:
Chr19:55151868
TNNI3G200VHypertrophic cardiomyopathyUncertain significance
(Jul 26, 2022)		criteria provided, single submitter
58.
GRCh37:
Chr19:55663236
GRCh38:
Chr19:55151868
TNNI3G200EHypertrophic cardiomyopathyUncertain significance
(Oct 21, 2022)		criteria provided, single submitter
59.
GRCh37:
Chr19:55663238
GRCh38:
Chr19:55151870
TNNI3S199fsHypertrophic cardiomyopathyUncertain significance
(Jul 20, 2022)		criteria provided, single submitter
60.
GRCh37:
Chr19:55663239
GRCh38:
Chr19:55151871
TNNI3S199NCardiovascular phenotype, Hypertrophic cardiomyopathy 7, Hypertrophic cardiomyopathy,
not provided		Conflicting interpretations of pathogenicity
(Jun 13, 2022)		criteria provided, conflicting interpretations
61.
GRCh37:
Chr19:55663240
GRCh38:
Chr19:55151872
TNNI3S199CCardiovascular phenotype, Hypertrophic cardiomyopathyConflicting interpretations of pathogenicity
(Mar 18, 2022)		criteria provided, conflicting interpretations
62.
GRCh37:
Chr19:55663241
GRCh38:
Chr19:55151873
TNNI3not providedLikely benign
(Apr 13, 2018)		criteria provided, single submitter
63.
GRCh37:
Chr19:55663243
GRCh38:
Chr19:55151875
TNNI3L198Vnot specified, Cardiovascular phenotype, not provided,
Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy		Conflicting interpretations of pathogenicity
(Oct 25, 2022)		criteria provided, conflicting interpretations
64.
GRCh37:
Chr19:55663248
GRCh38:
Chr19:55151880
TNNI3D196GHypertrophic cardiomyopathyUncertain significance
(Aug 28, 2021)		criteria provided, single submitter
65.
GRCh37:
Chr19:55663249
GRCh38:
Chr19:55151881
TNNI3D196HHypertrophic cardiomyopathyUncertain significance
(May 21, 2022)		criteria provided, single submitter
66.
GRCh37:
Chr19:55663249
GRCh38:
Chr19:55151881
TNNI3D196Ynot specified, Cardiomyopathy, Hypertrophic cardiomyopathy
Uncertain significance
(Feb 19, 2022)		criteria provided, multiple submitters, no conflicts
67.
GRCh37:
Chr19:55663249
GRCh38:
Chr19:55151881
TNNI3D196NCardiovascular phenotype, Dilated cardiomyopathy 1FF, Cardiomyopathy, familial restrictive, 1,
Hypertrophic cardiomyopathy 7, Dilated cardiomyopathy 2A, not provided,
Cardiomyopathy, Hypertrophic cardiomyopathy 7, Hypertrophic cardiomyopathy
Pathogenic/Likely pathogenic
(Dec 29, 2022)		criteria provided, multiple submitters, no conflicts
68.
GRCh37:
Chr19:55663250
GRCh38:
Chr19:55151882
TNNI3Hypertrophic cardiomyopathy, Cardiovascular phenotype, Cardiomyopathy
Likely benign
(Nov 1, 2022)		criteria provided, multiple submitters, no conflicts
69.
GRCh37:
Chr19:55663250
GRCh38:
Chr19:55151882
TNNI3I195MHypertrophic cardiomyopathyUncertain significance
(Sep 2, 2021)		criteria provided, single submitter
70.
GRCh37:
Chr19:55663252
GRCh38:
Chr19:55151884
TNNI3I195Lnot specified, not providedUncertain significance
(Sep 9, 2021)		criteria provided, multiple submitters, no conflicts
71.
GRCh37:
Chr19:55663253
GRCh38:
Chr19:55151885
TNNI3N194Knot providedLikely pathogenic
(Jun 23, 2017)		criteria provided, single submitter
72.
GRCh37:
Chr19:55663254
GRCh38:
Chr19:55151886
TNNI3N194TCardiovascular phenotype, Cardiomyopathy, Hypertrophic cardiomyopathy
Uncertain significance
(Aug 24, 2021)		criteria provided, multiple submitters, no conflicts
73.
GRCh37:
Chr19:55663254
GRCh38:
Chr19:55151886
TNNI3N194Snot providedLikely pathogenic
(Dec 5, 2013)		criteria provided, single submitter
74.
GRCh37:
Chr19:55663255
GRCh38:
Chr19:55151887
TNNI3N194DHypertrophic cardiomyopathyUncertain significance
(Aug 24, 2021)		criteria provided, single submitter
75.
GRCh37:
Chr19:55663256
GRCh38:
Chr19:55151888
TNNI3K193Nnot providedLikely pathogenic
(Nov 27, 2013)		criteria provided, single submitter
76.
GRCh37:
Chr19:55663256
GRCh38:
Chr19:55151888
TNNI3K193Nnot specified, Hypertrophic cardiomyopathyUncertain significance
(Aug 24, 2021)		criteria provided, multiple submitters, no conflicts
77.
GRCh37:
Chr19:55663258
GRCh38:
Chr19:55151890
TNNI3K193Enot provided, Hypertrophic cardiomyopathy, Cardiovascular phenotype
Uncertain significance
(Jan 14, 2022)		criteria provided, multiple submitters, no conflicts
78.
GRCh37:
Chr19:55663260
GRCh38:
Chr19:55151892
TNNI3R192PHypertrophic cardiomyopathyLikely pathogenic
(Jul 13, 2016)		criteria provided, single submitter
79.
GRCh37:
Chr19:55663260
GRCh38:
Chr19:55151892
TNNI3R192LHypertrophic cardiomyopathyLikely pathogenic
(Feb 13, 2013)		no assertion criteria provided
80.
GRCh37:
Chr19:55663260
GRCh38:
Chr19:55151892
TNNI3R192HHypertrophic cardiomyopathy, Restrictive cardiomyopathy, Cardiovascular phenotype,
not provided, SUDDEN INFANT DEATH SYNDROME, Restrictive cardiomyopathy,
Hypertrophic cardiomyopathy		Pathogenic
(Sep 14, 2022)		criteria provided, multiple submitters, no conflicts
81.
GRCh37:
Chr19:55663261
GRCh38:
Chr19:55151893
TNNI3R192CDilated cardiomyopathy 2A, Cardiomyopathy, familial restrictive, 1, Dilated cardiomyopathy 1FF,
Hypertrophic cardiomyopathy 7, not provided, Restrictive cardiomyopathy,
Hypertrophic cardiomyopathy		Pathogenic/Likely pathogenic
(Oct 27, 2022)		criteria provided, multiple submitters, no conflicts
82.
GRCh37:
Chr19:55663265
GRCh38:
Chr19:55151897
TNNI3Hypertrophic cardiomyopathyLikely benign
(Nov 13, 2021)		criteria provided, single submitter
83.
GRCh37:
Chr19:55663265
GRCh38:
Chr19:55151897
TNNI3D190Enot providedUncertain significance
(May 24, 2017)		criteria provided, single submitter
84.
GRCh37:
Chr19:55663266-55663272
GRCh38:
Chr19:55151898-55151904
TNNI3V188fsHypertrophic cardiomyopathyUncertain significance
(Apr 1, 2020)		criteria provided, single submitter
85.
GRCh37:
Chr19:55663266
GRCh38:
Chr19:55151898
TNNI3D190GCardiomyopathy, familial restrictive, 1, Hypertrophic cardiomyopathy 7Pathogenic
(Jan 1, 2003)		no assertion criteria provided
86.
GRCh37:
Chr19:55663267
GRCh38:
Chr19:55151899
TNNI3D190YHypertrophic cardiomyopathyLikely pathogenic
(Jul 11, 2019)		criteria provided, single submitter
87.
GRCh37:
Chr19:55663268
GRCh38:
Chr19:55151900
TNNI3CardiomyopathyLikely benign
(Oct 16, 2018)		criteria provided, single submitter
88.
GRCh37:
Chr19:55663269
GRCh38:
Chr19:55151901
TNNI3G189ACardiovascular phenotypeUncertain significance
(Sep 5, 2018)		criteria provided, single submitter
89.
GRCh37:
Chr19:55663269
GRCh38:
Chr19:55151901
TNNI3G189EPrimary familial hypertrophic cardiomyopathyUncertain significance
(Dec 20, 2013)		no assertion criteria provided
90.
GRCh37:
Chr19:55663273
GRCh38:
Chr19:55151905
TNNI3V188Lnot providedUncertain significance
(Feb 23, 2012)		criteria provided, single submitter
91.
GRCh37:
Chr19:55663273
GRCh38:
Chr19:55151905
TNNI3V188Mnot specified, not provided, Hypertrophic cardiomyopathy
Conflicting interpretations of pathogenicity
(Mar 11, 2022)		criteria provided, conflicting interpretations
92.
GRCh37:
Chr19:55663274
GRCh38:
Chr19:55151906
TNNI3E187DHypertrophic cardiomyopathyUncertain significance
(Aug 12, 2021)		criteria provided, single submitter
93.
GRCh37:
Chr19:55663275-55663276
GRCh38:
Chr19:55151907-55151908
TNNI3E187RHypertrophic cardiomyopathyUncertain significance
(Aug 24, 2021)		criteria provided, single submitter
94.
GRCh37:
Chr19:55663276
GRCh38:
Chr19:55151908
TNNI3E187Knot specified, Hypertrophic cardiomyopathyUncertain significance
(Aug 27, 2021)		criteria provided, multiple submitters, no conflicts
95.
GRCh37:
Chr19:55663278
GRCh38:
Chr19:55151910
TNNI3R186QCardiovascular phenotype, not provided, Cardiomyopathy,
Hypertrophic cardiomyopathy 7, Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
Pathogenic/Likely pathogenic
(Sep 29, 2022)		criteria provided, multiple submitters, no conflicts
96.
GRCh37:
Chr19:55663279
GRCh38:
Chr19:55151911
TNNI3R186Wnot provided, Hypertrophic cardiomyopathy, Cardiomyopathy,
SUDDEN INFANT DEATH SYNDROME		Conflicting interpretations of pathogenicity
(Sep 1, 2023)		criteria provided, conflicting interpretations
97.
GRCh37:
Chr19:55663280
GRCh38:
Chr19:55151912
TNNI3N185KDilated cardiomyopathy 1FFPathogenic
(Aug 14, 2009)		no assertion criteria provided
98.
GRCh37:
Chr19:55663281
GRCh38:
Chr19:55151913
TNNI3N185Snot providedLikely pathogenic
(Jun 25, 2012)		criteria provided, single submitter
99.
GRCh37:
Chr19:55663282
GRCh38:
Chr19:55151914
TNNI3N185Ynot providedUncertain significance
(Jun 26, 2020)		criteria provided, single submitter
100.
GRCh37:
Chr19:55663285
GRCh38:
Chr19:55151917
TNNI3E184QHypertrophic cardiomyopathyUncertain significance
(Aug 24, 2021)		criteria provided, single submitter
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