2109[geneid] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Result Filters

Search results

Items: 1 to 100 of 262

<< First< Prev

Page of 3

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 591161.	GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3 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 cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 591172.	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3 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 cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 591263.	GRCh38/hg38 19q13.33-13.43(chr19:49907832-58557889)x3 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 cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 1465794.	GRCh38/hg38 19q13.33-13.43(chr19:50152520-58581203)x3 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 cases	Pathogenic (Oct 19, 2010)	no assertion criteria provided
Select item 572195.	GRCh38/hg38 19q13.33-13.43(chr19:50191219-58535818)x3 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 cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 591276.	GRCh38/hg38 19q13.41-13.43(chr19:51141518-58539965)x3 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 cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 1553837.	GRCh38/hg38 19q13.41(chr19:51202361-51993020)x3 GRCh37: Chr19:51705617-52496273 GRCh38: Chr19:51202361-51993020	C19orf84, CD33, CEACAM18, CLDND2, ETFB, FPR1, FPR2, FPR3, HAS1, IGLON5, LIM2, LIM2-AS1, LINC01530, LINC01872, LOC125384529, LOC125384530, LOC125384531, LOC126862921, MIR125A, MIR8074, MIR99B, MIRLET7E, NKG7, SIGLEC10, SIGLEC10-AS1, SIGLEC12, SIGLEC14, SIGLEC5, SIGLEC6, SIGLEC8, SIGLECL1, SPACA6, SPACA6-AS1, VSIG10L, ZNF175, ZNF350, ZNF350-AS1, ZNF577, ZNF613, ZNF615, ZNF649, ZNF649-AS1		See cases	Uncertain significance (Sep 27, 2013)	no assertion criteria provided
Select item 12860608.	Single allele GRCh37: Chr19:51848195 GRCh38: Chr19:51344941	ETFB		not provided	Benign (Jun 14, 2018)	criteria provided, single submitter
Select item 12712689.	Single allele GRCh37: Chr19:51848260 GRCh38: Chr19:51345006	ETFB		not provided	Benign (Jun 14, 2018)	criteria provided, single submitter
Select item 161128410.	NM_001985.3(ETFB):c.762G>T (p.Arg254=) GRCh37: Chr19:51848471 GRCh38: Chr19:51345217	ETFB		Multiple acyl-CoA dehydrogenase deficiency	Likely benign (Mar 8, 2022)	criteria provided, single submitter
Select item 65750311.	NM_001985.3(ETFB):c.761G>A (p.Arg254Gln) GRCh37: Chr19:51848472 GRCh38: Chr19:51345218	ETFB	R345Q, R254Q	Multiple acyl-CoA dehydrogenase deficiency	Uncertain significance (Aug 6, 2022)	criteria provided, single submitter
Select item 135467912.	NM_001985.3(ETFB):c.760C>T (p.Arg254Trp) GRCh37: Chr19:51848473 GRCh38: Chr19:51345219	ETFB	R345W, R254W	Multiple acyl-CoA dehydrogenase deficiency	Uncertain significance (Aug 22, 2022)	criteria provided, single submitter
Select item 253904213.	NM_001985.3(ETFB):c.736G>A (p.Val246Met) GRCh37: Chr19:51848497 GRCh38: Chr19:51345243	ETFB	V246M, V337M	Inborn genetic diseases	Uncertain significance (Apr 19, 2023)	criteria provided, single submitter
Select item 9401914.	NM_001985.3(ETFB):c.728A>C (p.Glu243Ala) GRCh37: Chr19:51848505 GRCh38: Chr19:51345251	ETFB	E243A, E334A	not provided	Uncertain significance (Oct 1, 2012)	criteria provided, single submitter
Select item 198600415.	NM_001985.3(ETFB):c.726T>C (p.Thr242=) GRCh37: Chr19:51848507 GRCh38: Chr19:51345253	ETFB		Multiple acyl-CoA dehydrogenase deficiency	Likely benign (Aug 15, 2022)	criteria provided, single submitter
Select item 209499216.	NM_001985.3(ETFB):c.715G>A (p.Val239Met) GRCh37: Chr19:51848518 GRCh38: Chr19:51345264	ETFB	V330M, V239M	Multiple acyl-CoA dehydrogenase deficiency	Uncertain significance (Feb 8, 2022)	criteria provided, single submitter
Select item 20370017.	NM_001985.3(ETFB):c.709G>A (p.Val237Ile) GRCh37: Chr19:51848524 GRCh38: Chr19:51345270	ETFB	V237I, V328I	Inborn genetic diseases, not provided, Multiple acyl-CoA dehydrogenase deficiency	Conflicting interpretations of pathogenicity (Oct 25, 2022)	criteria provided, conflicting interpretations
Select item 70667518.	NM_001985.3(ETFB):c.708C>T (p.Gly236=) GRCh37: Chr19:51848525 GRCh38: Chr19:51345271	ETFB		Multiple acyl-CoA dehydrogenase deficiency	Likely benign (Nov 1, 2022)	criteria provided, single submitter
Select item 144927819.	NM_001985.3(ETFB):c.706G>A (p.Gly236Ser) GRCh37: Chr19:51848527 GRCh38: Chr19:51345273	ETFB	G327S, G236S	Multiple acyl-CoA dehydrogenase deficiency	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 197478420.	NM_001985.3(ETFB):c.705C>A (p.Ala235=) GRCh37: Chr19:51848528 GRCh38: Chr19:51345274	ETFB		Multiple acyl-CoA dehydrogenase deficiency	Likely benign (Sep 18, 2022)	criteria provided, single submitter
Select item 114573021.	NM_001985.3(ETFB):c.705C>T (p.Ala235=) GRCh37: Chr19:51848528 GRCh38: Chr19:51345274	ETFB		Multiple acyl-CoA dehydrogenase deficiency	Likely benign (Jun 10, 2022)	criteria provided, single submitter
Select item 38421522.	NM_001985.3(ETFB):c.702G>A (p.Thr234=) GRCh37: Chr19:51848531 GRCh38: Chr19:51345277	ETFB		not specified, Multiple acyl-CoA dehydrogenase deficiency	Likely benign (Nov 18, 2021)	criteria provided, multiple submitters, no conflicts
Select item 52945223.	NM_001985.3(ETFB):c.697C>T (p.Arg233Cys) GRCh37: Chr19:51848536 GRCh38: Chr19:51345282	ETFB	R233C, R324C	Multiple acyl-CoA dehydrogenase deficiency	Uncertain significance (Sep 1, 2022)	criteria provided, single submitter
Select item 94118124.	NM_001985.3(ETFB):c.687C>A (p.Asp229Glu) GRCh37: Chr19:51848546 GRCh38: Chr19:51345292	ETFB	D320E, D229E	Multiple acyl-CoA dehydrogenase deficiency	Uncertain significance (May 21, 2022)	criteria provided, single submitter
Select item 140002025.	NM_001985.3(ETFB):c.676A>T (p.Ser226Cys) GRCh37: Chr19:51848557 GRCh38: Chr19:51345303	ETFB	S317C, S226C	Multiple acyl-CoA dehydrogenase deficiency	Uncertain significance (Jul 6, 2022)	criteria provided, single submitter
Select item 194035926.	NM_001985.3(ETFB):c.666C>T (p.Leu222=) GRCh37: Chr19:51848567 GRCh38: Chr19:51345313	ETFB		Multiple acyl-CoA dehydrogenase deficiency	Likely benign (Mar 1, 2022)	criteria provided, single submitter
Select item 101652227.	NM_001985.3(ETFB):c.645dup (p.Val216fs) GRCh37: Chr19:51848587-51848588 GRCh38: Chr19:51345333-51345334	ETFB	V216fs, V307fs	Multiple acyl-CoA dehydrogenase deficiency, not specified	Uncertain significance (Aug 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 206206828.	NM_001985.3(ETFB):c.636G>A (p.Gly212=) GRCh37: Chr19:51848597 GRCh38: Chr19:51345343	ETFB		Multiple acyl-CoA dehydrogenase deficiency	Likely benign (Sep 2, 2022)	criteria provided, single submitter
Select item 84704729.	NM_001985.3(ETFB):c.632C>A (p.Pro211His) GRCh37: Chr19:51848601 GRCh38: Chr19:51345347	ETFB	P211H, P302H	Multiple acyl-CoA dehydrogenase deficiency	Uncertain significance (Aug 28, 2021)	criteria provided, single submitter
Select item 214344530.	NM_001985.3(ETFB):c.631C>T (p.Pro211Ser) GRCh37: Chr19:51848602 GRCh38: Chr19:51345348	ETFB	P211S, P302S	Multiple acyl-CoA dehydrogenase deficiency	Uncertain significance (Sep 10, 2022)	criteria provided, single submitter
Select item 209039131.	NM_001985.3(ETFB):c.622G>A (p.Val208Met) GRCh37: Chr19:51848611 GRCh38: Chr19:51345357	ETFB	V299M, V208M	Multiple acyl-CoA dehydrogenase deficiency	Uncertain significance (Feb 8, 2022)	criteria provided, single submitter
Select item 71741232.	NM_001985.3(ETFB):c.618C>T (p.Ile206=) GRCh37: Chr19:51848615 GRCh38: Chr19:51345361	ETFB		Multiple acyl-CoA dehydrogenase deficiency	Benign (Oct 17, 2022)	criteria provided, single submitter
Select item 141974633.	NM_001985.3(ETFB):c.605AGA[3] (p.Lys205del) GRCh37: Chr19:51848617-51848619 GRCh38: Chr19:51345363-51345365	ETFB	K205del, K296del	Multiple acyl-CoA dehydrogenase deficiency	Uncertain significance (Jul 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 171693534.	NM_001985.3(ETFB):c.611A>G (p.Lys204Arg) GRCh37: Chr19:51848622 GRCh38: Chr19:51345368	ETFB	K204R, K295R	Multiple acyl-CoA dehydrogenase deficiency	Uncertain significance (Aug 19, 2022)	criteria provided, single submitter
Select item 45996035.	NM_001985.3(ETFB):c.598A>G (p.Lys200Glu) GRCh37: Chr19:51848635 GRCh38: Chr19:51345381	ETFB	K200E, K291E	Multiple acyl-CoA dehydrogenase deficiency	Uncertain significance (Mar 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 80863436.	NM_001985.3(ETFB):c.598-1del GRCh37: Chr19:51848636 GRCh38: Chr19:51345382	ETFB		not provided	Uncertain significance (Mar 1, 2018)	criteria provided, single submitter
Select item 200984337.	NM_001985.3(ETFB):c.598-3C>T GRCh37: Chr19:51848638 GRCh38: Chr19:51345384	ETFB		Multiple acyl-CoA dehydrogenase deficiency	Uncertain significance (Jul 19, 2022)	criteria provided, single submitter
Select item 51208938.	NM_001985.3(ETFB):c.598-14C>T GRCh37: Chr19:51848649 GRCh38: Chr19:51345395	ETFB		not specified, Multiple acyl-CoA dehydrogenase deficiency	Likely benign (Oct 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 68011939.	NM_001985.3(ETFB):c.598-189T>C GRCh37: Chr19:51848824 GRCh38: Chr19:51345570	ETFB		not provided	Benign (Jun 19, 2018)	criteria provided, single submitter
Select item 68011840.	NM_001985.3(ETFB):c.598-199T>C GRCh37: Chr19:51848834 GRCh38: Chr19:51345580	ETFB		not provided	Benign (Jun 19, 2018)	criteria provided, single submitter
Select item 68011141.	NM_001985.3(ETFB):c.597+227C>G GRCh37: Chr19:51849927 GRCh38: Chr19:51346673	ETFB		not provided	Benign (Jun 19, 2018)	criteria provided, single submitter
Select item 68162642.	NM_001985.3(ETFB):c.597+191G>A GRCh37: Chr19:51849963 GRCh38: Chr19:51346709	ETFB		not provided	Benign (Jun 14, 2018)	criteria provided, single submitter
Select item 166713743.	NM_001985.3(ETFB):c.597+12_597+25del GRCh37: Chr19:51850129-51850142 GRCh38: Chr19:51346875-51346888	ETFB		Multiple acyl-CoA dehydrogenase deficiency	Likely benign (Jan 3, 2022)	criteria provided, single submitter
Select item 192343744.	NM_001985.3(ETFB):c.597+18G>A GRCh37: Chr19:51850136 GRCh38: Chr19:51346882	ETFB		Multiple acyl-CoA dehydrogenase deficiency	Likely benign (Nov 1, 2022)	criteria provided, single submitter
Select item 216352445.	NM_001985.3(ETFB):c.597+17C>G GRCh37: Chr19:51850137 GRCh38: Chr19:51346883	ETFB		Multiple acyl-CoA dehydrogenase deficiency	Likely benign (Apr 19, 2022)	criteria provided, single submitter
Select item 38241846.	NM_001985.3(ETFB):c.597+17C>A GRCh37: Chr19:51850137 GRCh38: Chr19:51346883	ETFB		not provided, Multiple acyl-CoA dehydrogenase deficiency	Likely benign (Mar 29, 2021)	criteria provided, multiple submitters, no conflicts
Select item 197734547.	NM_001985.3(ETFB):c.597+13C>G GRCh37: Chr19:51850141 GRCh38: Chr19:51346887	ETFB		Multiple acyl-CoA dehydrogenase deficiency	Likely benign (Apr 28, 2022)	criteria provided, single submitter
Select item 166317448.	NM_001985.3(ETFB):c.597+9C>G GRCh37: Chr19:51850145 GRCh38: Chr19:51346891	ETFB		Multiple acyl-CoA dehydrogenase deficiency	Likely benign (Dec 21, 2020)	criteria provided, single submitter
Select item 51492449.	NM_001985.3(ETFB):c.597+8C>T GRCh37: Chr19:51850146 GRCh38: Chr19:51346892	ETFB		not specified, Multiple acyl-CoA dehydrogenase deficiency	Likely benign (May 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 136416550.	NM_001985.3(ETFB):c.597+6C>T GRCh37: Chr19:51850148 GRCh38: Chr19:51346894	ETFB		Multiple acyl-CoA dehydrogenase deficiency	Uncertain significance (Jun 13, 2022)	criteria provided, single submitter
Select item 51790851.	NM_001985.3(ETFB):c.597+6C>A GRCh37: Chr19:51850148 GRCh38: Chr19:51346894	ETFB		not specified	Likely benign (Jun 5, 2017)	criteria provided, single submitter
Select item 1671752.	NM_001985.3(ETFB):c.597+1G>C GRCh37: Chr19:51850153 GRCh38: Chr19:51346899	ETFB		Glutaric acidemia IIb	Pathogenic (Mar 1, 1994)	no assertion criteria provided
Select item 150510753.	NM_001985.3(ETFB):c.589A>G (p.Asn197Asp) GRCh37: Chr19:51850162 GRCh38: Chr19:51346908	ETFB	N288D, N197D	Multiple acyl-CoA dehydrogenase deficiency	Uncertain significance (Aug 27, 2021)	criteria provided, single submitter
Select item 196721054.	NM_001985.3(ETFB):c.588C>G (p.Pro196=) GRCh37: Chr19:51850163 GRCh38: Chr19:51346909	ETFB		Multiple acyl-CoA dehydrogenase deficiency	Likely benign (Jun 27, 2022)	criteria provided, single submitter
Select item 51128155.	NM_001985.3(ETFB):c.582G>A (p.Thr194=) GRCh37: Chr19:51850169 GRCh38: Chr19:51346915	ETFB		not specified, Multiple acyl-CoA dehydrogenase deficiency	Likely benign (Aug 9, 2021)	criteria provided, multiple submitters, no conflicts
Select item 240471556.	NM_001985.3(ETFB):c.581C>T (p.Thr194Met) GRCh37: Chr19:51850170 GRCh38: Chr19:51346916	ETFB	T194M, T285M	Inborn genetic diseases	Uncertain significance (Oct 26, 2022)	criteria provided, single submitter
Select item 45995957.	NM_001985.3(ETFB):c.577G>A (p.Ala193Thr) GRCh37: Chr19:51850174 GRCh38: Chr19:51346920	ETFB	A193T, A284T	not provided, Multiple acyl-CoA dehydrogenase deficiency	Conflicting interpretations of pathogenicity (Nov 1, 2022)	criteria provided, conflicting interpretations
Select item 75874558.	NM_001985.3(ETFB):c.576C>T (p.Tyr192=) GRCh37: Chr19:51850175 GRCh38: Chr19:51346921	ETFB		Multiple acyl-CoA dehydrogenase deficiency	Likely benign (Aug 3, 2022)	criteria provided, single submitter
Select item 139715159.	NM_001985.3(ETFB):c.572G>A (p.Arg191His) GRCh37: Chr19:51850179 GRCh38: Chr19:51346925	ETFB	R191H, R282H	Multiple acyl-CoA dehydrogenase deficiency	Uncertain significance (Sep 13, 2022)	criteria provided, single submitter
Select item 140982360.	NM_001985.3(ETFB):c.571C>T (p.Arg191Cys) GRCh37: Chr19:51850180 GRCh38: Chr19:51346926	ETFB	R191C, R282C	Multiple acyl-CoA dehydrogenase deficiency	Uncertain significance (Apr 15, 2022)	criteria provided, single submitter
Select item 57035761.	NM_001985.3(ETFB):c.565G>A (p.Glu189Lys) GRCh37: Chr19:51850186 GRCh38: Chr19:51346932	ETFB	E189K, E280K	Multiple acyl-CoA dehydrogenase deficiency, not provided	Conflicting interpretations of pathogenicity (Sep 9, 2022)	criteria provided, conflicting interpretations
Select item 189617762.	NM_001985.3(ETFB):c.564C>T (p.Asn188=) GRCh37: Chr19:51850187 GRCh38: Chr19:51346933	ETFB		Multiple acyl-CoA dehydrogenase deficiency	Likely benign (Oct 13, 2022)	criteria provided, single submitter
Select item 140630263.	NM_001985.3(ETFB):c.541G>A (p.Val181Met) GRCh37: Chr19:51850210 GRCh38: Chr19:51346956	ETFB	V272M, V181M	Multiple acyl-CoA dehydrogenase deficiency	Uncertain significance (Jul 19, 2022)	criteria provided, single submitter
Select item 20369964.	NM_001985.3(ETFB):c.521G>A (p.Arg174His) GRCh37: Chr19:51850230 GRCh38: Chr19:51346976	ETFB	R174H, R265H	not provided, Multiple acyl-CoA dehydrogenase deficiency	Likely benign (Oct 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 207270465.	NM_001985.3(ETFB):c.520C>T (p.Arg174Cys) GRCh37: Chr19:51850231 GRCh38: Chr19:51346977	ETFB	R174C, R265C	Multiple acyl-CoA dehydrogenase deficiency	Uncertain significance (May 25, 2022)	criteria provided, single submitter
Select item 151927266.	NM_001985.3(ETFB):c.520C>G (p.Arg174Gly) GRCh37: Chr19:51850231 GRCh38: Chr19:51346977	ETFB	R174G, R265G	Multiple acyl-CoA dehydrogenase deficiency	Uncertain significance (Nov 30, 2021)	criteria provided, single submitter
Select item 37783467.	NM_001985.3(ETFB):c.519G>C (p.Leu173=) GRCh37: Chr19:51850232 GRCh38: Chr19:51346978	ETFB		not specified, Multiple acyl-CoA dehydrogenase deficiency	Likely benign (Sep 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 197734868.	NM_001985.3(ETFB):c.504G>C (p.Gly168=) GRCh37: Chr19:51850247 GRCh38: Chr19:51346993	ETFB		Multiple acyl-CoA dehydrogenase deficiency	Likely benign (May 8, 2022)	criteria provided, single submitter
Select item 190282969.	NM_001985.3(ETFB):c.499G>A (p.Asp167Asn) GRCh37: Chr19:51850252 GRCh38: Chr19:51346998	ETFB	D258N, D167N	Multiple acyl-CoA dehydrogenase deficiency	Uncertain significance (Jul 11, 2022)	criteria provided, single submitter
Select item 137330070.	NM_001985.3(ETFB):c.499G>C (p.Asp167His) GRCh37: Chr19:51850252 GRCh38: Chr19:51346998	ETFB	D167H, D258H	Multiple acyl-CoA dehydrogenase deficiency, Inborn genetic diseases	Uncertain significance (Nov 25, 2021)	criteria provided, multiple submitters, no conflicts
Select item 216898771.	NM_001985.3(ETFB):c.498C>G (p.Ile166Met) GRCh37: Chr19:51850253 GRCh38: Chr19:51346999	ETFB	I166M, I257M	Multiple acyl-CoA dehydrogenase deficiency, Inborn genetic diseases	Uncertain significance (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 37783372.	NM_001985.3(ETFB):c.498C>T (p.Ile166=) GRCh37: Chr19:51850253 GRCh38: Chr19:51346999	ETFB		not specified, Multiple acyl-CoA dehydrogenase deficiency	Likely benign (Aug 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 1671673.	NM_001985.3(ETFB):c.491G>A (p.Arg164Gln) GRCh37: Chr19:51850260 GRCh38: Chr19:51347006	ETFB	R164Q, R255Q	Multiple acyl-CoA dehydrogenase deficiency	Likely pathogenic (Aug 31, 2021)	criteria provided, single submitter
Select item 145490074.	NM_001985.3(ETFB):c.490C>T (p.Arg164Trp) GRCh37: Chr19:51850261 GRCh38: Chr19:51347007	ETFB	R255W, R164W	Multiple acyl-CoA dehydrogenase deficiency	Pathogenic (Aug 27, 2021)	criteria provided, single submitter
Select item 156272475.	NM_001985.3(ETFB):c.480G>A (p.Leu160=) GRCh37: Chr19:51850271 GRCh38: Chr19:51347017	ETFB		Multiple acyl-CoA dehydrogenase deficiency	Likely benign (Aug 9, 2022)	criteria provided, single submitter
Select item 50838276.	NM_001985.3(ETFB):c.471G>A (p.Gly157=) GRCh37: Chr19:51850280 GRCh38: Chr19:51347026	ETFB		not specified	Likely benign (Mar 31, 2017)	criteria provided, single submitter
Select item 9401877.	NM_001985.3(ETFB):c.461C>T (p.Thr154Met) GRCh37: Chr19:51850290 GRCh38: Chr19:51347036	ETFB	T154M, T245M	not specified, Multiple acyl-CoA dehydrogenase deficiency, not provided	Benign (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 203294078.	NM_001985.3(ETFB):c.454C>T (p.Gln152Ter) GRCh37: Chr19:51850297 GRCh38: Chr19:51347043	ETFB	Q152, Q243	Multiple acyl-CoA dehydrogenase deficiency	Pathogenic (Sep 27, 2022)	criteria provided, single submitter
Select item 69782179.	NM_001985.3(ETFB):c.452C>T (p.Ser151Phe) GRCh37: Chr19:51850299 GRCh38: Chr19:51347045	ETFB	S242F, S151F	Multiple acyl-CoA dehydrogenase deficiency, not provided	Conflicting interpretations of pathogenicity (Oct 24, 2022)	criteria provided, conflicting interpretations
Select item 196399680.	NM_001985.3(ETFB):c.450C>A (p.Ala150=) GRCh37: Chr19:51850301 GRCh38: Chr19:51347047	ETFB		Multiple acyl-CoA dehydrogenase deficiency	Likely benign (Oct 23, 2022)	criteria provided, single submitter
Select item 131280581.	NM_001985.3(ETFB):c.448G>A (p.Ala150Thr) GRCh37: Chr19:51850303 GRCh38: Chr19:51347049	ETFB	A150T, A241T	not provided	Uncertain significance (Jun 19, 2020)	criteria provided, single submitter
Select item 20369882.	NM_001985.3(ETFB):c.447C>T (p.Phe149=) GRCh37: Chr19:51850304 GRCh38: Chr19:51347050	ETFB		not specified, Multiple acyl-CoA dehydrogenase deficiency	Benign (Oct 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 156407683.	NM_001985.3(ETFB):c.439-4C>T GRCh37: Chr19:51850316 GRCh38: Chr19:51347062	ETFB		Multiple acyl-CoA dehydrogenase deficiency	Likely benign (Oct 7, 2022)	criteria provided, single submitter
Select item 157965984.	NM_001985.3(ETFB):c.439-14C>T GRCh37: Chr19:51850326 GRCh38: Chr19:51347072	ETFB		Multiple acyl-CoA dehydrogenase deficiency	Likely benign (Mar 2, 2022)	criteria provided, single submitter
Select item 196717085.	NM_001985.3(ETFB):c.439-18T>C GRCh37: Chr19:51850330 GRCh38: Chr19:51347076	ETFB		Multiple acyl-CoA dehydrogenase deficiency	Likely benign (Oct 13, 2022)	criteria provided, single submitter
Select item 161310286.	NM_001985.3(ETFB):c.439-20C>G GRCh37: Chr19:51850332 GRCh38: Chr19:51347078	ETFB		Multiple acyl-CoA dehydrogenase deficiency	Likely benign (Sep 6, 2022)	criteria provided, single submitter
Select item 126269887.	NM_001985.3(ETFB):c.439-90A>G GRCh37: Chr19:51850402 GRCh38: Chr19:51347148	ETFB		not provided	Benign (Jun 23, 2018)	criteria provided, single submitter
Select item 119298388.	NM_001985.3(ETFB):c.439-136C>G GRCh37: Chr19:51850448 GRCh38: Chr19:51347194	ETFB		not provided	Likely benign (Jul 26, 2018)	criteria provided, single submitter
Select item 68011089.	NM_001985.3(ETFB):c.439-173A>G GRCh37: Chr19:51850485 GRCh38: Chr19:51347231	ETFB		not provided	Benign (Jun 14, 2018)	criteria provided, single submitter
Select item 68162490.	NM_001985.3(ETFB):c.439-194G>A GRCh37: Chr19:51850506 GRCh38: Chr19:51347252	ETFB		not provided	Benign (Jun 14, 2018)	criteria provided, single submitter
Select item 68385191.	NM_001985.3(ETFB):c.439-285A>G GRCh37: Chr19:51850597 GRCh38: Chr19:51347343	ETFB		not provided	Benign (Jun 14, 2018)	criteria provided, single submitter
Select item 67139792.	NM_001985.3(ETFB):c.439-321C>T GRCh37: Chr19:51850633 GRCh38: Chr19:51347379	ETFB		not provided	Benign (Jun 14, 2018)	criteria provided, single submitter
Select item 68384993.	NM_001985.3(ETFB):c.438+295G>C GRCh37: Chr19:51853288 GRCh38: Chr19:51350034	ETFB		not provided	Benign (Jun 14, 2018)	criteria provided, single submitter
Select item 68010894.	NM_001985.3(ETFB):c.438+231T>C GRCh37: Chr19:51853352 GRCh38: Chr19:51350098	ETFB		not provided	Benign (Jun 19, 2018)	criteria provided, single submitter
Select item 127474795.	NM_001985.3(ETFB):c.438+187C>T GRCh37: Chr19:51853396 GRCh38: Chr19:51350142	ETFB		not provided	Benign (Mar 3, 2015)	criteria provided, single submitter
Select item 129365296.	NM_001985.3(ETFB):c.438+183C>A GRCh37: Chr19:51853400 GRCh38: Chr19:51350146	ETFB		not provided	Benign (Mar 3, 2015)	criteria provided, single submitter
Select item 123815197.	NM_001985.3(ETFB):c.438+115G>A GRCh37: Chr19:51853468 GRCh38: Chr19:51350214	ETFB		not provided	Benign (Mar 3, 2015)	criteria provided, single submitter
Select item 13723098.	NM_001985.3(ETFB):c.438+20C>T GRCh37: Chr19:51853563 GRCh38: Chr19:51350309	ETFB		not specified, Multiple acyl-CoA dehydrogenase deficiency	Benign (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 204613699.	NM_001985.3(ETFB):c.438+5G>A GRCh37: Chr19:51853578 GRCh38: Chr19:51350324	ETFB		Multiple acyl-CoA dehydrogenase deficiency	Uncertain significance (Jun 20, 2022)	criteria provided, single submitter
Select item 1445052100.	NM_001985.3(ETFB):c.438+5G>T GRCh37: Chr19:51853578 GRCh38: Chr19:51350324	ETFB		Multiple acyl-CoA dehydrogenase deficiency	Uncertain significance (Dec 2, 2021)	criteria provided, single submitter

<< First< Prev

Page of 3