| - GRCh37:
- Chr19:11338618-45129651
- GRCh38:
- Chr19:11227942-44626354
| ABHD8, ACP5, ACP7, ACTMAP, ACTN4, ADGRE2, ADGRE3, ADGRE5, ADGRL1, ADGRL1-AS1, AKAP8, AKAP8L, AKT2, ALKBH6, ANGPTL8, ANKLE1, ANKRD27, ANO8, AP1M1, APLP1, ARHGAP33, ARHGEF1, ARMC6, ARRDC2, ASF1B, ATP13A1, ATP1A3, ATP4A, AXL, B3GNT3, B3GNT8, B9D2, BABAM1, BCKDHA, BEST2, BISPR, BLVRB, BORCS8, BORCS8-MEF2B, BRD4, BRME1, BST2, C19orf12, C19orf33, C19orf44, C19orf47, C19orf53, C19orf67, CACNA1A, CADM4, CALR, CALR3, CAPN12, CAPNS1, CASP14, CATSPERG, CC2D1A, CCDC105, CCDC124, CCDC159, CCDC194, CCDC97, CCER2, CCNE1, CCNP, CD177, CD22, CD79A, CEACAM1, CEACAM20, CEACAM21, CEACAM3, CEACAM4, CEACAM5, CEACAM6, CEACAM7, CEACAM8, CEBPA, CEBPA-DT, CEBPG, CEP89, CERS1, CHERP, CHST8, CIB3, CIC, CILP2, CLC, CLEC17A, CLIP3, CNFN, CNN1, COLGALT1, COMP, COPE, COQ8B, COX6B1, COX7A1, CPAMD8, CRLF1, CRTC1, CXCL17, CYP2A13, CYP2A6, CYP2A7, CYP2B6, CYP2F1, CYP2S1, CYP4F11, CYP4F12, CYP4F2, CYP4F22, CYP4F3, CYP4F8, DAND5, DCAF15, DDA1, DDX39A, DDX49, DEDD2, DHPS, DLL3, DMAC2, DMKN, DMRTC2, DNAJB1, DNASE2, DOCK6, DPF1, DPY19L3, DPY19L3-DT, DYRK1B, ECH1, ECSIT, EGLN2, EID2, EID2B, EIF3K, ELAVL3, ELL, ELOF1, EPHX3, EPOR, EPS15L1, ERF, ERFL, ERICH4, ERVK-19, ERVS71-1, ETHE1, ETV2, EXOSC5, F2RL3, FAAP24, FAM187B, FAM32A, FAM98C, FARSA, FARSA-AS1, FBL, FBXO17, FBXO27, FBXW9, FCGBP, FCHO1, FFAR1, FFAR2, FFAR3, FKBP8, FXYD1, FXYD3, FXYD5, FXYD7, GADD45GIP1, GAPDHS, GARRE1, GATAD2A, GCDH, GDF1, GDF15, GET3, GGN, GIPC1, GMFG, GMIP, GNG14, GPATCH1, GPI, GPR42, GRAMD1A, GRIK5, GSK3A, GTPBP3, HAMP, HAPLN4, HAUS5, HAUS5-DT, HAUS8, HCST, HIPK4, HNRNPL, HNRNPUL1, HOMER3, HOMER3-AS1, HOOK2, HPN, HPN-AS1, HSH2D, HSPB6, IER2, IFI30, IFNL1, IFNL2, IFNL3, IFNL4, IGFLR1, IGSF23, IL12RB1, IL27RA, ILVBL, INSL3, IQCN, IRGC, IRGQ, ISYNA1, ITPKC, JAK3, JUNB, JUND, KCNK6, KCNN1, KCNN4, KCTD15, KIRREL2, KLF1, KLF2, KLHL26, KMT2B, KRTDAP, KXD1, LEUTX, LGALS13, LGALS14, LGALS16, LGALS4, LGALS7, LGALS7B, LGI4, LIN37, LINC00661, LINC00662, LINC00663, LINC00664, LINC00665, LINC00904, LINC00905, LINC00906, LINC01224, LINC01233, LINC01480, LINC01529, LINC01531, LINC01532, LINC01533, LINC01535, LINC01764, LINC01766, LINC01782, LINC01785, LINC01791, LINC01801, LINC01834, LINC01838, LINC01841, LINC01842, LINC01855, LINC01858, LINC01859, LINC02841, LINC02926, LINC02987, LINC03049, LIPE, LIPE-AS1, LNROP, LOC100134317, LOC100505585, LOC100505715, LOC100505851, LOC100507646, LOC101927572, LOC101929124, LOC101930071, LOC102724908, LOC102724958, LOC102725254, LOC105372383, LOC105376917, LOC106783503, LOC108663985, LOC110120869, LOC110120870, LOC110120871, LOC110120872, LOC110120873, LOC110120875, LOC110120890, LOC110120927, LOC110120942, LOC110121458, LOC110121465, LOC110599575, LOC110599577, LOC110673974, LOC111365151, LOC111365153, LOC111365163, LOC111413028, LOC111501767, LOC111811970, LOC112543445, LOC112543446, LOC112543448, LOC112543452, LOC112543454, LOC112543455, LOC112543458, LOC112543459, LOC112543461, LOC112543462, LOC112543463, LOC112543464, LOC112543465, LOC112543466, LOC112543467, LOC112543468, LOC112543469, LOC112543470, LOC112543471, LOC112543472, LOC112543473, LOC112543479, LOC112543483, LOC112543484, LOC112543485, LOC112543486, LOC112543487, LOC112543488, LOC112543489, LOC112552149, LOC112552150, LOC112552151, LOC112552152, LOC112552153, LOC112552154, LOC112552155, LOC112552156, LOC113939968, LOC113939969, LOC113939973, LOC116276503, LOC116276504, LOC116276505, LOC116276506, LOC116276507, LOC116276508, LOC116276509, LOC116276510, LOC116276511, LOC116276512, LOC116276513, LOC116276514, LOC116276515, LOC116286188, LOC116286189, LOC117038783, LOC117038784, LOC117038785, LOC117038786, LOC117038787, LOC117038788, LOC117038789, LOC117038790, LOC117038791, LOC117038792, LOC117038793, LOC117038794, LOC117038795, LOC117125585, LOC117125586, LOC117125587, LOC117125588, LOC117125589, LOC117125590, LOC117125591, LOC117125592, LOC117125593, LOC117125594, LOC117125595, LOC117125596, LOC117125597, LOC117125598, LOC121627856, LOC121627857, LOC121627858, LOC121627859, LOC121627860, LOC121627861, LOC121627862, LOC121627863, LOC121627864, LOC121627865, LOC121627866, LOC121627867, LOC121627868, LOC121627869, LOC121627870, LOC121627871, LOC121627872, LOC121627873, LOC121627874, LOC121627875, LOC121627876, LOC121627877, LOC121852977, LOC121852978, LOC121852979, LOC121852980, LOC121852981, LOC121852982, LOC121852983, LOC121852984, LOC121852985, LOC121852986, LOC121852987, LOC121852988, LOC125371478, LOC125371479, LOC125371480, LOC125371481, LOC125371482, LOC125371483, LOC125371484, LOC125371486, LOC125371487, LOC125371488, LOC125371489, LOC125371491, LOC125371492, LOC125371493, LOC125371494, LOC125371495, LOC125371496, LOC125371497, LOC125371498, LOC125371499, LOC125371500, LOC125371501, LOC125371502, LOC125371503, LOC125371504, LOC125371505, LOC125371506, LOC125371507, LOC125371509, LOC125371510, LOC125371511, LOC125371513, LOC125371514, LOC125371515, LOC125371516, LOC125371517, LOC125371518, LOC125371519, LOC125371520, LOC125371521, LOC125371522, LOC125371523, LOC125371524, LOC125371525, LOC126862857, LOC126862858, LOC126862859, LOC126862860, LOC126862861, LOC126862862, LOC126862863, LOC126862864, LOC126862865, LOC126862866, LOC126862867, LOC126862868, LOC126862869, LOC126862870, LOC126862871, LOC126862872, LOC126862873, LOC126862874, LOC126862875, LOC126862876, LOC126862877, LOC126862878, LOC126862879, LOC126862880, LOC126862881, LOC126862882, LOC126862883, LOC126862884, LOC126862885, LOC126862886, LOC126862887, LOC126862888, LOC126862889, LOC126862890, LOC126862891, LOC126862892, LOC126862893, LOC126862894, LOC126862895, LOC126862896, LOC126862897, LOC126862898, LOC126862899, LOC126862900, LOC126862901, LOC126862902, LOC126862903, LOC126862904, LOC126862905, LOC126862906, LOC126862907, LOC126862908, LOC126862909, LOC126862910, LOC126862911, LOC126862912, LOC128598884, LOC128854698, LOC284344, LOC284412, LOC644554, LOC648044, LOC728485, LOC729966, LPAR2, LRFN1, LRFN3, LRP3, LRRC25, LSM14A, LSM4, LSR, LTBP4, LYL1, LYPD3, LYPD4, LYPD5, MAG, MAN2B1, MAP1S, MAP3K10, MAP4K1, MAP4K1-AS1, MAST1, MAST3, MAU2, MED26, MED29, MEF2B, MEGF8, MIA, MIA-RAB4B, MIR1199, MIR1270, MIR1470, MIR181C, MIR181D, MIR23A, MIR23AHG, MIR24-2, MIR27A, MIR3188, MIR3189, MIR4323, MIR4530, MIR5196, MIR5684, MIR5695, MIR639, MIR640, MIR641, MIR6515, MIR6719, MIR6794, MIR6795, MIR6796, MIR6797, MIR6887, MIR7974, MIR8077, MISP3, MPV17L2, MRI1, MRPL34, MRPS12, MVB12A, MYO9B, NACC1, NANOS3, NCAN, NCCRP1, NDUFA13, NDUFB7, NFIX, NFKBIB, NFKBID, NIBAN3, NOTCH3, NPHS1, NR2C2AP, NR2F6, NUDT19, NUMBL, NWD1, NXNL1, OCEL1, ODAD3, OR10H1, OR10H2, OR10H3, OR10H4, OR10H5, OR1I1, OR7A10, OR7A17, OR7A5, OR7C1, OR7C2, OVOL3, PAF1, PAFAH1B3, PAK4, PALM3, PBX4, PCAT19, PDCD2L, PDCD5, PDE4C, PEPD, PGLS, PGLS-DT, PGLYRP2, PGPEP1, PHLDB3, PIK3R2, PINLYP, PKN1, PLAUR, PLD3, PLEKHF1, PLEKHG2, PLPPR2, PLVAP, PMIS2, PODNL1, POLR2I, POP4, POU2F2, PPP1R14A, PRDX2, PRG1, PRKACA, PRKCSH, PRODH2, PROSER3, PRR19, PRX, PSENEN, PSG1, PSG11, PSG11-AS1, PSG2, PSG3, PSG4, PSG5, PSG6, PSG7, PSG8, PSG8-AS1, PSG9, PSMC4, PSMD8, PTGER1, RAB3A, RAB3D, RAB4B, RAB4B-EGLN2, RAB8A, RABAC1, RAD23A, RASAL3, RASGRP4, RBM42, REX1BD, RFX1, RFXANK, RGL3, RGS9BP, RHPN2, RINL, RLN3, RNASEH2A, RPL18A, RPS16, RPS19, RPSA2, RTBDN, SCGB2B2, RYR1, SAMD1, SAMD4B, SARS2, SBSN, SCN1B, SDHAF1, SELENOV, SERTAD1, SERTAD3, SERTAD3-AS1, SHKBP1, SIN3B, SIPA1L3, SIRT2, SLC1A6, SLC25A42, SLC27A1, SLC35E1, SLC5A5, SLC7A10, SLC7A9, SMG9, SMIM46, SMIM7, SNORA104, SNORA118, SNORA68, SNORA68B, SNORD135, SNORD152, SNORD175, SNORD41, SNRPA, SPINT2, SPRED3, SPTBN4, SRRM5, SSBP4, STX10, SUGP1, SUGP2, SUNO1, SUPT5H, SWSAP1, SYCE2, SYCN, SYDE1, SYNE4, TBCB, TDRD12, TECR, TEX101, TGFB1, THAP8, THEG5, THSD8, TIMM50, TM6SF2, TMEM145, TMEM147, TMEM147-AS1, TMEM161A, TMEM205, TMEM221, TMEM38A, TMEM59L, TMEM91, TNPO2, TPM4, TRI-TAT1-1, TRIR, TRMT1, TRT-AGT1-3, TSHZ3, TSPAN16, TSSK6, TTC9B, TYROBP, U2AF1L4, UBA2, UBA52, UCA1, UNC13A, UPF1, UPK1A, UPK1A-AS1, UQCRFS1, UQCRFS1-DT, URI1, USE1, USF2, USHBP1, VSTM2B, VSTM2B-DT, WDR62, WDR83, WDR83OS, WDR87, WDR87BP, WDR88, WIZ, WTIP, XRCC1, YIF1B, YJEFN3, YJU2B, ZBTB32, ZFP14, ZFP30, ZFP36, ZFP82, ZNF100, ZNF101, ZNF112, ZNF136, ZNF14, ZNF146, ZNF155, ZNF180, ZNF181, ZNF20, ZNF208, ZNF221, ZNF222, ZNF222-DT, ZNF223, ZNF224, ZNF225, ZNF225-AS1, ZNF226, ZNF227, ZNF229, ZNF230, ZNF230-DT, ZNF233, ZNF234, ZNF235, ZNF253, ZNF254, ZNF257, ZNF260, ZNF283, ZNF284, ZNF285, ZNF30, ZNF30-AS1, ZNF302, ZNF333, ZNF345, ZNF382, ZNF383, ZNF404, ZNF420, ZNF428, ZNF429, ZNF43, ZNF430, ZNF431, ZNF433, ZNF433-AS1, ZNF439, ZNF44, ZNF440, ZNF441, ZNF442, ZNF443, ZNF45, ZNF45-AS1, ZNF461, ZNF486, ZNF490, ZNF491, ZNF492, ZNF493, ZNF506, ZNF507, ZNF526, ZNF527, ZNF529, ZNF529-AS1, ZNF536, ZNF540, ZNF546, ZNF563, ZNF564, ZNF565, ZNF566, ZNF566-AS1, ZNF567, ZNF567-DT, ZNF568, ZNF569, ZNF570, ZNF571, ZNF571-AS1, ZNF573, ZNF574, ZNF575, ZNF576, ZNF585A, ZNF585B, ZNF599, ZNF607, ZNF625, ZNF625-ZNF20, ZNF626, ZNF627, ZNF653, ZNF66, ZNF675, ZNF676, ZNF681, ZNF682, ZNF69, ZNF700, ZNF708, ZNF709, ZNF714, ZNF723, ZNF724, ZNF726, ZNF728, ZNF729, ZNF730, ZNF737, ZNF738, ZNF763, ZNF780A, ZNF780B, ZNF781, ZNF790, ZNF790-AS1, ZNF791, ZNF792, ZNF793, ZNF793-AS1, ZNF799, ZNF823, ZNF829, ZNF844, ZNF85, ZNF850, ZNF875, ZNF878, ZNF90, ZNF91, ZNF93, ZNF98, ZNF99, ZSWIM4 | | See cases | Pathogenic (Mar 30, 2010) | no assertion criteria provided |
| - GRCh37:
- Chr19:14085489-28330584
- GRCh38:
- Chr19:13974677-27839676
| ADGRE2, ABHD8, ADGRE3, ADGRE5, ADGRL1, ADGRL1-AS1, AKAP8, AKAP8L, ANKLE1, ANO8, AP1M1, ARMC6, ARRDC2, ASF1B, ATP13A1, B3GNT3, BABAM1, BISPR, BORCS8, BORCS8-MEF2B, BRD4, BST2, C19orf44, C19orf67, CALR3, CASP14, CCDC105, CCDC124, CCDC194, CERS1, CHERP, CIB3, CILP2, CLEC17A, COLGALT1, COMP, COPE, CPAMD8, CRLF1, CRTC1, CYP4F11, CYP4F12, CYP4F2, CYP4F22, CYP4F3, CYP4F8, DDA1, DDX39A, DDX49, DNAJB1, ELL, EPHX3, EPS15L1, ERVK-19, ERVS71-1, F2RL3, FAM32A, FCHO1, FKBP8, GATAD2A, GDF1, GDF15, GIPC1, GMIP, GTPBP3, HAPLN4, HAUS8, HOMER3, HOMER3-AS1, HSH2D, IFI30, IL12RB1, IL27RA, ILVBL, INSL3, IQCN, ISYNA1, JAK3, JUND, KCNN1, KLF2, KLHL26, KXD1, LINC00661, LINC00662, LINC00663, LINC00664, LINC00905, LINC01224, LINC01233, LINC01764, LINC01785, LINC01841, LINC01842, LINC01855, LINC01858, LINC01859, LINC02987, LOC100505851, LOC101929124, LOC102725254, LOC105376917, LOC106783503, LOC112543461, LOC112543462, LOC112543463, LOC112543464, LOC112543465, LOC112543466, LOC112543467, LOC112543468, LOC112543469, LOC112543470, LOC112543471, LOC112543472, LOC112543473, LOC113939968, LOC116276505, LOC116276506, LOC116276507, LOC116276508, LOC116276509, LOC116276510, LOC116276511, LOC116276512, LOC121627856, LOC121627857, LOC121627858, LOC121627859, LOC121627860, LOC121627861, LOC121627862, LOC121627863, LOC121627864, LOC121627865, LOC121627866, LOC121627867, LOC121852982, LOC121852983, LOC121852984, LOC121852985, LOC125371482, LOC125371483, LOC125371484, LOC125371486, LOC125371487, LOC125371488, LOC125371489, LOC125371491, LOC125371492, LOC125371493, LOC125371494, LOC125371495, LOC125371496, LOC125371497, LOC125371498, LOC125371499, LOC125371500, LOC126862867, LOC126862868, LOC126862869, LOC126862870, LOC126862871, LOC126862872, LOC126862873, LOC126862874, LOC126862875, LOC126862876, LOC126862877, LOC126862878, LOC126862879, LOC126862880, LOC126862881, LOC126862882, LOC126862883, LOC126862884, LOC126862885, LOC126862886, LOC128854698, LOC729966, LPAR2, LRRC25, LSM4, MAP1S, MAST3, MAU2, MED26, MEF2B, MIR1199, MIR1270, MIR1470, MIR3188, MIR3189, MIR639, MIR640, MIR6795, MISP3, MPV17L2, MRPL34, MVB12A, MYO9B, NCAN, NDUFA13, NDUFB7, NIBAN3, NOTCH3, NR2C2AP, NR2F6, NWD1, NXNL1, OCEL1, OR10H1, OR10H2, OR10H3, OR10H4, OR10H5, OR1I1, OR7A10, OR7A17, OR7A5, OR7C1, OR7C2, PALM3, PBX4, PDE4C, PGLS, PGLS-DT, PGLYRP2, PGPEP1, PIK3R2, PKN1, PLVAP, PRKACA, PTGER1, RAB3A, RAB8A, RASAL3, REX1BD, RFX1, RFXANK, RLN3, RPL18A, RPSA2, SAMD1, SIN3B, SLC1A6, SLC25A42, SLC27A1, SLC35E1, SLC5A5, SMIM46, SMIM7, SNORA104, SNORA118, SNORA68, SSBP4, SUGP1, SUGP2, SYDE1, TECR, TM6SF2, TMEM161A, TMEM221, TMEM38A, TMEM59L, TPM4, TSSK6, UBA52, UCA1, UNC13A, UPF1, USE1, USHBP1, WIZ, YJEFN3, ZNF100, ZNF101, ZNF14, ZNF208, ZNF253, ZNF254, ZNF257, ZNF333, ZNF429, ZNF43, ZNF430, ZNF431, ZNF486, ZNF492, ZNF493, ZNF506, ZNF626, ZNF66, ZNF675, ZNF676, ZNF681, ZNF682, ZNF708, ZNF714, ZNF723, ZNF724, ZNF726, ZNF728, ZNF729, ZNF730, ZNF737, ZNF738, ZNF85, ZNF90, ZNF91, ZNF93, ZNF98, ZNF99 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr19:15244405-24376393
- GRCh38:
- Chr19:15133594-24193591
| ATP13A1, B3GNT3, BABAM1, BISPR, BORCS8, BORCS8-MEF2B, BRD4, BST2, C19orf44, CALR3, CCDC124, CCDC194, CERS1, CHERP, CIB3, CILP2, COLGALT1, COMP, COPE, CPAMD8, CRLF1, CRTC1, CYP4F11, CYP4F12, CYP4F2, CYP4F22, CYP4F3, CYP4F8, DDA1, DDX49, ELL, EPHX3, EPS15L1, ERVS71-1, F2RL3, FAM32A, FCHO1, FKBP8, GATAD2A, GDF1, GDF15, GMIP, GTPBP3, HAPLN4, HAUS8, HOMER3, HOMER3-AS1, HSH2D, IFI30, IL12RB1, INSL3, IQCN, ISYNA1, JAK3, JUND, KCNN1, KLF2, KLHL26, KXD1, LINC00661, LINC00663, LINC00664, LINC00905, LINC01224, LINC01233, LINC01764, LINC01785, LINC01855, LINC01858, LINC01859, LOC100505851, LOC101929124, LOC102725254, LOC105376917, LOC106783503, LOC112543462, LOC112543463, LOC112543464, LOC112543465, LOC112543466, LOC112543467, LOC112543468, LOC112543469, LOC112543470, LOC112543471, LOC112543472, LOC112543473, LOC116276507, LOC116276508, LOC116276509, LOC116276510, LOC116276511, LOC116276512, LOC121627859, LOC121627860, LOC121627861, LOC121627862, LOC121627863, LOC121627864, LOC121627865, LOC121627866, LOC121627867, LOC121852982, LOC121852983, LOC121852984, LOC121852985, LOC125371486, LOC125371487, LOC125371488, LOC125371489, LOC125371491, LOC125371492, LOC125371493, LOC125371494, LOC125371495, LOC125371496, LOC125371497, LOC125371498, LOC125371499, LOC125371500, LOC126862871, LOC126862872, LOC126862873, LOC126862874, LOC126862875, LOC126862876, LOC126862877, LOC126862878, LOC126862879, LOC126862880, LOC126862881, LOC126862882, LOC126862883, LOC126862884, LOC126862885, LOC126862886, LOC128854698, LOC729966, LPAR2, LRRC25, LSM4, MAP1S, MAST3, MAU2, MED26, MEF2B, MIR1270, MIR1470, MIR3188, MIR3189, MIR640, MIR6795, MPV17L2, MRPL34, MVB12A, MYO9B, NCAN, NDUFA13, NIBAN3, NOTCH3, NR2C2AP, NR2F6, NWD1, NXNL1, OCEL1, OR10H1, OR10H2, OR10H3, OR10H4, OR10H5, PBX4, PDE4C, PGLS, PGLS-DT, PGLYRP2, PGPEP1, PIK3R2, PLVAP, RAB3A, RAB8A, RASAL3, REX1BD, RFXANK, RPL18A, RPSA2, SIN3B, SLC25A42, SLC27A1, SLC35E1, SLC5A5, SMIM7, SNORA118, SNORA68, SSBP4, SUGP1, SUGP2, TM6SF2, TMEM161A, TMEM221, TMEM38A, TMEM59L, TPM4, TSSK6, UBA52, UCA1, UNC13A, UPF1, USE1, USHBP1, WIZ, YJEFN3, ZNF100, ZNF101, ZNF14, ZNF208, ZNF253, ZNF254, ZNF257, ZNF429, ZNF43, ZNF430, ZNF431, ZNF486, ZNF492, ZNF493, ZNF506, ZNF626, ZNF66, ZNF675, ZNF676, ZNF681, ZNF682, ZNF708, ZNF714, ZNF723, ZNF724, ZNF726, ZNF728, ZNF729, ZNF730, ZNF737, ZNF738, ZNF85, ZNF90, ZNF91, ZNF93, ZNF98, ZNF99, ABHD8, AKAP8, AKAP8L, ANKLE1, ANO8, AP1M1, ARMC6, ARRDC2 | | See cases | Pathogenic (Dec 22, 2010) | no assertion criteria provided |
| - GRCh37:
- Chr19:17287576-35415054
- GRCh38:
- Chr19:17176767-34924150
| ABHD8, ANKLE1, ANKRD27, ANO8, ARMC6, ARRDC2, ATP13A1, B3GNT3, BABAM1, BISPR, BORCS8, BORCS8-MEF2B, BST2, C19orf12, CCDC124, CCDC194, CCNE1, CEBPA, CEBPA-DT, CEBPG, CEP89, CERS1, CHST8, CILP2, COLGALT1, COMP, COPE, CRLF1, CRTC1, DDA1, DDX49, DPY19L3, DPY19L3-DT, ELL, ERVK-19, ERVS71-1, FAAP24, FCHO1, FKBP8, GARRE1, GATAD2A, GDF1, GDF15, GMIP, GPATCH1, GPI, GTPBP3, HAPLN4, HOMER3, HOMER3-AS1, IFI30, IL12RB1, INSL3, IQCN, ISYNA1, JAK3, JUND, KCNN1, KCTD15, KLHL26, KXD1, LINC00662, LINC00663, LINC00664, LINC00904, LINC00906, LINC01224, LINC01233, LINC01532, LINC01533, LINC01782, LINC01785, LINC01791, LINC01801, LINC01834, LINC01838, LINC01858, LINC01859, LINC02841, LINC02987, LINC03049, LOC100505851, LOC101929124, LOC102724908, LOC102724958, LOC102725254, LOC105376917, LOC106783503, LOC110120869, LOC110120870, LOC110120871, LOC110120872, LOC110120873, LOC110120875, LOC110120890, LOC110120927, LOC110120942, LOC111365153, LOC111413028, LOC112543463, LOC112543464, LOC112543465, LOC112543466, LOC112543467, LOC112543468, LOC112543469, LOC112543470, LOC112543471, LOC112543472, LOC112543473, LOC112543479, LOC112543483, LOC112543484, LOC113939969, LOC116276507, LOC116276508, LOC116276509, LOC116276510, LOC116276511, LOC116276512, LOC121627862, LOC121627863, LOC121627864, LOC121627865, LOC121627866, LOC121627867, LOC121627868, LOC121627869, LOC121627870, LOC121852983, LOC121852984, LOC121852985, LOC121852986, LOC125371491, LOC125371492, LOC125371493, LOC125371494, LOC125371495, LOC125371496, LOC125371497, LOC125371498, LOC125371499, LOC125371500, LOC125371501, LOC125371502, LOC125371503, LOC125371504, LOC125371505, LOC125371506, LOC125371507, LOC126862875, LOC126862876, LOC126862877, LOC126862878, LOC126862879, LOC126862880, LOC126862881, LOC126862882, LOC126862883, LOC126862884, LOC126862885, LOC126862886, LOC126862887, LOC126862888, LOC126862889, LOC126862890, LOC126862891, LOC126862892, LOC126862893, LOC126862894, LOC126862895, LOC729966, LPAR2, LRP3, LRRC25, LSM14A, LSM4, MAP1S, MAST3, MAU2, MEF2B, MIR1270, MIR3188, MIR3189, MIR640, MPV17L2, MRPL34, MVB12A, MYO9B, NCAN, NDUFA13, NIBAN3, NR2C2AP, NR2F6, NUDT19, NXNL1, OCEL1, PBX4, PDCD2L, PDCD5, PDE4C, PEPD, PGLS, PGLS-DT, PGPEP1, PIK3R2, PLEKHF1, PLVAP, POP4, RAB3A, REX1BD, RFXANK, RGS9BP, RHPN2, RPL18A, RPSA2, SCGB2B2, SLC25A42, SLC27A1, SLC5A5, SLC7A10, SLC7A9, SNORA68, SNORA68B, SSBP4, SUGP1, SUGP2, SUNO1, TDRD12, THEG5, TM6SF2, TMEM161A, TMEM221, TMEM59L, TRT-AGT1-3, TSHZ3, TSSK6, UBA2, UBA52, UNC13A, UPF1, UQCRFS1, UQCRFS1-DT, URI1, USE1, USHBP1, VSTM2B, VSTM2B-DT, WDR88, WTIP, YJEFN3, ZNF100, ZNF101, ZNF14, ZNF181, ZNF208, ZNF253, ZNF254, ZNF257, ZNF30, ZNF30-AS1, ZNF302, ZNF429, ZNF43, ZNF430, ZNF431, ZNF486, ZNF492, ZNF493, ZNF506, ZNF507, ZNF536, ZNF599, ZNF626, ZNF66, ZNF675, ZNF676, ZNF681, ZNF682, ZNF708, ZNF714, ZNF723, ZNF724, ZNF726, ZNF728, ZNF729, ZNF730, ZNF737, ZNF738, ZNF85, ZNF90, ZNF91, ZNF93, ZNF98, ZNF99 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18979421
- GRCh38:
- Chr19:18868612
| GDF1, CERS1 | | not provided | Likely benign (Sep 6, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18979423
- GRCh38:
- Chr19:18868614
| GDF1, CERS1 | E368K | not provided | Uncertain significance (Aug 31, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18979429
- GRCh38:
- Chr19:18868620
| CERS1, GDF1 | V366L | Inborn genetic diseases | Uncertain significance (Dec 8, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18979430
- GRCh38:
- Chr19:18868621
| CERS1, GDF1 | | not provided | Likely benign (Aug 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18979433
- GRCh38:
- Chr19:18868624
| GDF1, CERS1 | M364I | not provided | Likely pathogenic (Aug 24, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18979433-18979435
- GRCh38:
- Chr19:18868624-18868626
| CERS1, GDF1 | M364del | Right atrial isomerism | Pathogenic (Apr 18, 2018) | no assertion criteria provided |
| - GRCh37:
- Chr19:18979434
- GRCh38:
- Chr19:18868625
| CERS1, GDF1 | M364T | Progressive myoclonic epilepsy type 8, not provided | Conflicting interpretations of pathogenicity (Jun 14, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:18979450
- GRCh38:
- Chr19:18868641
| CERS1, GDF1 | R359W | Visceral heterotaxy, not provided | Uncertain significance (Oct 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18979473-18979474
- GRCh38:
- Chr19:18868664-18868665
| CERS1, GDF1 | | not provided | Uncertain significance (Sep 2, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18979475-18979478
- GRCh38:
- Chr19:18868666-18868669
| CERS1, GDF1 | F349fs | not provided, Visceral heterotaxy, Congenital heart defects, multiple types, 6
| Pathogenic/Likely pathogenic (Aug 15, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:18979476-18979478
- GRCh38:
- Chr19:18868667-18868669
| CERS1, GDF1 | F350del | Visceral heterotaxy, Progressive myoclonic epilepsy type 8 | Uncertain significance (Aug 31, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18979484
- GRCh38:
- Chr19:18868675
| CERS1, GDF1 | | not provided | Likely benign (May 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18979487
- GRCh38:
- Chr19:18868678
| CERS1, GDF1 | | not provided | Likely benign (Apr 2, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18979495
- GRCh38:
- Chr19:18868686
| CERS1, GDF1 | P344S | Progressive myoclonic epilepsy type 8, not provided | Uncertain significance (Sep 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18979496
- GRCh38:
- Chr19:18868687
| CERS1, GDF1 | | not provided, Progressive myoclonic epilepsy type 8 | Likely benign (Jul 10, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18979497
- GRCh38:
- Chr19:18868688
| GDF1, CERS1 | S343W | not provided | Uncertain significance (Aug 31, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18979506
- GRCh38:
- Chr19:18868697
| CERS1, GDF1 | A340G | not provided | Uncertain significance (Sep 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18979509
- GRCh38:
- Chr19:18868700
| CERS1, GDF1 | P339L | Inborn genetic diseases | Uncertain significance (Aug 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18979509
- GRCh38:
- Chr19:18868700
| CERS1, GDF1 | P339H | not provided | Uncertain significance (Aug 31, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18979524
- GRCh38:
- Chr19:18868715
| CERS1, GDF1 | L334R | Inborn genetic diseases | Uncertain significance (Jan 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18979528
- GRCh38:
- Chr19:18868719
| CERS1, GDF1 | D333N | Congenital heart defects, multiple types, 6 | Uncertain significance (Sep 10, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18979538
- GRCh38:
- Chr19:18868729
| CERS1, GDF1 | | not provided | Likely benign (Oct 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18979540
- GRCh38:
- Chr19:18868731
| CERS1, GDF1 | P329S | not provided, Visceral heterotaxy | Uncertain significance (Aug 13, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:18979548
- GRCh38:
- Chr19:18868739
| GDF1, CERS1 | A326G | Inborn genetic diseases | Uncertain significance (Jan 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18979573
- GRCh38:
- Chr19:18868764
| CERS1, GDF1 | A318T | not provided | Likely pathogenic (Feb 16, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18979600
- GRCh38:
- Chr19:18868791
| CERS1, GDF1 | S309P | Visceral heterotaxy, Progressive myoclonic epilepsy type 8 | Conflicting interpretations of pathogenicity (Oct 15, 2020) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:18979613
- GRCh38:
- Chr19:18868804
| CERS1, GDF1 | | not provided | Likely benign (Jul 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18979615-18979616
- GRCh38:
- Chr19:18868806-18868807
| CERS1, GDF1 | V304fs | not provided | Likely pathogenic (Aug 1, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18979622
- GRCh38:
- Chr19:18868813
| CERS1, GDF1 | | not provided | Likely benign (Aug 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18979625
- GRCh38:
- Chr19:18868816
| GDF1, CERS1 | | not provided | Uncertain significance (Aug 30, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18979634
- GRCh38:
- Chr19:18868825
| CERS1, GDF1 | Q297H | not provided | Uncertain significance | no assertion criteria provided |
| - GRCh37:
- Chr19:18979636
- GRCh38:
- Chr19:18868827
| CERS1, GDF1 | Q297* | not provided | Pathogenic (Aug 28, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18979642
- GRCh38:
- Chr19:18868833
| CERS1, GDF1 | Y295N | not provided, Visceral heterotaxy | Uncertain significance (Sep 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18979647
- GRCh38:
- Chr19:18868838
| CERS1, GDF1 | A293V | Inborn genetic diseases | Uncertain significance (Jun 18, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18979674
- GRCh38:
- Chr19:18868865
| CERS1, GDF1 | W284* | Congenital heart defects, multiple types, 6 | Likely pathogenic (Apr 6, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18979695
- GRCh38:
- Chr19:18868886
| CERS1, GDF1 | R277H | not provided | Uncertain significance (Aug 28, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18979711-18979738
- GRCh38:
- Chr19:18868902-18868929
| CERS1, GDF1 | P263fs | Inborn genetic diseases | Likely pathogenic (Dec 19, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18979713
- GRCh38:
- Chr19:18868904
| CERS1, GDF1 | R271P | not provided | Uncertain significance (Aug 31, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18979724-18979749
- GRCh38:
- Chr19:18868915-18868940
| GDF1, CERS1 | L259fs | Right atrial isomerism, not provided | Likely pathogenic (Oct 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:18979725
- GRCh38:
- Chr19:18868916
| GDF1, CERS1 | C267Y | Double outlet right ventricle | Pathogenic (Nov 1, 2007) | no assertion criteria provided |
| - GRCh37:
- Chr19:18979729
- GRCh38:
- Chr19:18868920
| CERS1, GDF1 | A266T | not provided | Uncertain significance (Sep 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18979737
- GRCh38:
- Chr19:18868928
| CERS1, GDF1 | P263L | not provided, Visceral heterotaxy | Uncertain significance (Aug 30, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18979745
- GRCh38:
- Chr19:18868936
| CERS1, GDF1 | | not provided | Uncertain significance (Jul 9, 2015) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18979758
- GRCh38:
- Chr19:18868949
| CERS1, GDF1 | E256G | not provided | Uncertain significance (Sep 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18979760
- GRCh38:
- Chr19:18868951
| CERS1, GDF1 | | not provided | Uncertain significance (Aug 13, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18979764
- GRCh38:
- Chr19:18868955
| CERS1, GDF1 | D254A | Inborn genetic diseases | Uncertain significance (Nov 30, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18979782-18979783
- GRCh38:
- Chr19:18868973-18868974
| CERS1, GDF1 | L248fs | not provided | Pathogenic (Aug 24, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18979784
- GRCh38:
- Chr19:18868975
| CERS1, GDF1 | | not provided | Likely benign (Aug 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18979787
- GRCh38:
- Chr19:18868978
| GDF1, CERS1 | | not provided | Likely benign (Oct 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18979839
- GRCh38:
- Chr19:18869030
| GDF1, CERS1 | R229P | not provided | Uncertain significance (Feb 25, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18979844
- GRCh38:
- Chr19:18869035
| CERS1, GDF1 | C227* | Right atrial isomerism, not provided, Congenital heart defects, multiple types, 6
| Pathogenic/Likely pathogenic (Mar 10, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:18979847-18979946
- GRCh38:
- Chr19:18869038-18869137
| CERS1, GDF1 | V194fs | not provided | Likely pathogenic (Aug 6, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18979857-18979858
- GRCh38:
- Chr19:18869048-18869049
| CERS1, GDF1 | A223fs | not provided | Pathogenic (May 3, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18979864
- GRCh38:
- Chr19:18869055
| GDF1, CERS1 | P221A | Inborn genetic diseases | Uncertain significance (Dec 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18979867
- GRCh38:
- Chr19:18869058
| GDF1, CERS1 | R220S | not provided, Visceral heterotaxy | Uncertain significance (Aug 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18979869-18979874
- GRCh38:
- Chr19:18869060-18869065
| GDF1, CERS1 | | not provided | Uncertain significance (Dec 18, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18979872
- GRCh38:
- Chr19:18869063
| CERS1, GDF1 | A218E | not provided | Uncertain significance (Feb 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18979876
- GRCh38:
- Chr19:18869067
| CERS1, GDF1 | L217V | not provided, Congenital heart defects, multiple types, 6 | Uncertain significance (Aug 30, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:18979888
- GRCh38:
- Chr19:18869079
| CERS1, GDF1 | L213F | not provided | Uncertain significance (Jul 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18979899
- GRCh38:
- Chr19:18869090
| CERS1, GDF1 | W209* | not provided | Pathogenic (Feb 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18979917
- GRCh38:
- Chr19:18869108
| GDF1, CERS1 | W203* | Inborn genetic diseases | Likely pathogenic (Apr 4, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18979926
- GRCh38:
- Chr19:18869117
| CERS1, GDF1 | G200D | Congenital heart defects, multiple types, 6, Right atrial isomerism, not provided, Visceral heterotaxy | Uncertain significance (Jul 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:18979929
- GRCh38:
- Chr19:18869120
| CERS1, GDF1 | L199P | not provided, Right atrial isomerism, Congenital heart defects, multiple types, 6
| Uncertain significance (Dec 15, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:18979938
- GRCh38:
- Chr19:18869129
| CERS1, GDF1 | A196G | Inborn genetic diseases | Uncertain significance (Aug 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18979938-18979939
- GRCh38:
- Chr19:18869129-18869130
| GDF1, CERS1 | A196fs | Visceral heterotaxy | Pathogenic (Nov 7, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18979943
- GRCh38:
- Chr19:18869134
| CERS1, GDF1 | | not provided | Likely benign (May 15, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18979953
- GRCh38:
- Chr19:18869144
| GDF1, CERS1 | G191A | not provided | Uncertain significance (Dec 6, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18979964
- GRCh38:
- Chr19:18869155
| GDF1, CERS1 | | not provided | Likely benign (Aug 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18979976
- GRCh38:
- Chr19:18869167
| CERS1, GDF1 | | not provided, Visceral heterotaxy | Likely benign (Oct 10, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18979988
- GRCh38:
- Chr19:18869179
| CERS1, GDF1 | | not provided | Likely benign (Jun 15, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18980008
- GRCh38:
- Chr19:18869199
| CERS1, GDF1 | G173S | not provided | Uncertain significance (Jun 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18980021
- GRCh38:
- Chr19:18869212
| CERS1, GDF1 | | Progressive myoclonic epilepsy type 8 | Likely benign (Sep 9, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18980040
- GRCh38:
- Chr19:18869231
| CERS1, GDF1 | G162D | Progressive myoclonic epilepsy type 8, not provided | Conflicting interpretations of pathogenicity (Jul 17, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:18980049
- GRCh38:
- Chr19:18869240
| CERS1, GDF1 | P159L | not provided | Uncertain significance (Aug 27, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18980054-18980055
- GRCh38:
- Chr19:18869245-18869246
| CERS1, GDF1 | | not provided, not specified, Visceral heterotaxy, Progressive myoclonic epilepsy type 8 | Benign (Dec 18, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:18980055-18980056
- GRCh38:
- Chr19:18869246-18869247
| CERS1, GDF1 | | not provided | Benign (Mar 3, 2015) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18980057
- GRCh38:
- Chr19:18869248
| CERS1, GDF1 | | not provided | Likely benign (Jul 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18980060
- GRCh38:
- Chr19:18869251
| CERS1, GDF1 | | not provided | Uncertain significance (Sep 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18980067
- GRCh38:
- Chr19:18869258
| CERS1, GDF1 | A153V | not provided | Uncertain significance (Aug 31, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18980094
- GRCh38:
- Chr19:18869285
| GDF1, CERS1 | R144P | not provided | Uncertain significance (Jun 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18980107
- GRCh38:
- Chr19:18869298
| CERS1, GDF1 | E140Q | not provided | Uncertain significance (Sep 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18980113
- GRCh38:
- Chr19:18869304
| CERS1, GDF1 | P138T | not provided | Likely benign (Jul 23, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18980121
- GRCh38:
- Chr19:18869312
| CERS1, GDF1 | A135V | Inborn genetic diseases, Progressive myoclonic epilepsy type 8 | Uncertain significance (Dec 20, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:18980124
- GRCh38:
- Chr19:18869315
| CERS1, GDF1 | S134W | not provided | Likely pathogenic (Mar 8, 2013) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18980137
- GRCh38:
- Chr19:18869328
| CERS1, GDF1 | V130I | not specified, not provided | Benign (Oct 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:18980145
- GRCh38:
- Chr19:18869336
| CERS1, GDF1 | W127* | Congenital heart defects, multiple types, 6 | Likely pathogenic (Jun 12, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18980154
- GRCh38:
- Chr19:18869345
| CERS1, GDF1 | C124F | not provided | Likely pathogenic (Feb 7, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18980158
- GRCh38:
- Chr19:18869349
| CERS1, GDF1 | H123Y | not provided | Uncertain significance (Oct 1, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18980159
- GRCh38:
- Chr19:18869350
| CERS1, GDF1 | | not provided | Likely benign (Mar 24, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18980168
- GRCh38:
- Chr19:18869359
| CERS1, GDF1 | | not provided | Likely benign (Nov 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18980169
- GRCh38:
- Chr19:18869360
| GDF1, CERS1 | S119L | not provided | Uncertain significance (Jun 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:18980172
- GRCh38:
- Chr19:18869363
| CERS1, GDF1 | A118V | not specified, not provided | Benign (Nov 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:18980186
- GRCh38:
- Chr19:18869377
| CERS1, GDF1 | | not provided | Likely benign (Sep 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:18980195
- GRCh38:
- Chr19:18869386
| GDF1, CERS1 | | not provided, Visceral heterotaxy | Likely benign (Sep 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18980207
- GRCh38:
- Chr19:18869398
| CERS1, GDF1 | | not provided | Benign (Aug 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18980213
- GRCh38:
- Chr19:18869404
| CERS1, GDF1 | | not specified, not provided | Benign (Nov 4, 2022) | criteria provided, multiple submitters, no conflicts |