| - GRCh37:
- Chr19:11338618-45129651
- GRCh38:
- Chr19:11227942-44626354
| 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, ZNF45-AS1, ACP5, ACTN4, AKT2, APLP1, GET3, ATP1A3, ATP4A, AXL, BCKDHA, CEACAM1, BLVRB, BST2, CACNA1A, CALR, CAPNS1, CCNE1, CD22, CD79A, ADGRE5, CEACAM5, CEBPA, CEBPG, CEACAM3, CEACAM7, CEACAM8, CEACAM4, TBCB, CLC, CNN1, COMP, COX6B1, COX7A1, NCAN, CYP2A6, CYP2A7, CYP2A13, CYP2B6, CYP2F1, DHPS, DNASE2, ECH1, MEGF8, ELAVL3, EPOR, NR2F6, ERF, FBL, ETV2, FARSA, GCDH, GDF1, GPI, FFAR1, FFAR3, GPR42, FFAR2, GRIK5, GSK3A, HNRNPL, HPN, DNAJB1, IL12RB1, INSL3, JAK3, JUNB, JUND, KCNN1, KCNN4, LGALS4, LGALS7, LIPE, LRP3, CYP4F3, LYL1, MAG, MAN2B1, BORCS8-MEF2B, RAB8A, MAP3K10, MYO9B, CEACAM6, NDUFB7, NFIX, NFKBIB, NOTCH3, NPHS1, PAFAH1B3, PDE4C, PEPD, PIK3R2, PLAUR, FXYD1, FXYD3, POLR2I, POU2F2, PRKACA, PKN1, PRKCSH, PSG1, PSG2, PSG3, PSG4, PSG5, PSG6, PSG7, PSG9, PSG11, PSMC4, PSMD8, PTGER1, RAB3A, RAD23A, UPF1, RFX1, RPL18A, MRPS12, RPS16, RPS19, RYR1, SCN1B, SLC1A6, SLC5A5, SNRPA, SUPT5H, PRDX2, TGFB1, TPM4, TYROBP, UBA52, UQCRFS1, USF2, XRCC1, ZFP36, ZNF14, ZNF708, ZNF20, ZNF43, ZNF45, ZNF66, ZNF69, ZNF221, ZNF85, ZNF90, ZNF91, ZNF99, ZNF222, ZNF136, ZNF146, ZNF155, ZNF180, ZNF208, ZNF223, ZNF224, ZNF225, ZNF226, ZNF227, ZNF112, ZNF229, ZNF230, ELL, MIA, DPF1, LTBP4, CYP4F2, RFXANK, STX10, URI1, FCGBP, AP1M1, F2RL3, ARHGEF1, PDCD5, DYRK1B, LPAR2, CRLF1, NUMBL, ZNF235, KCNK6, MED26, HOMER3, IL27RA, GDF15, TECR, ZNF254, GMFG, RAB3D, IER2, GARRE1, ZNF536, KMT2B, UBA2, SUGP2, DDX39A, ZNF443, AKAP8, PAK4, B3GNT3, KLF2, TMEM147, IFI30, CHERP, RNASEH2A, RABAC1, SPINT2, KLF1, DLL3, CERS1, GIPC1, POP4, ZNF234, HCST, ILVBL, UPK1A, HNRNPUL1, SLC7A9, MAP4K1, CYP4F8, COPE, ZFP30, ZNF507, ADGRL1, SIRT2, MAST1, UNC13A, MAST3, SIPA1L3, FCHO1, CIC, SIN3B, HAUS5, CRTC1, MAU2, ETHE1, BRD4, PRG1, CASP14, PLD3, FKBP8, TMEM59L, PGLS, LSM4, ZNF345, CLIP3, FAM32A, LSM14A, GAPDHS, OR7A17, TSPAN16, OR10H3, OR10H2, OR10H1, OR7C2, OR7A5, OR7C1, SNORA68, SNORD41, ZNF285, AKAP8L, ZBTB32, LYPD3, ARRDC2, CPAMD8, EIF3K, C19orf53, BABAM1, LGALS13, CYP2S1, HOOK2, SERTAD3, SERTAD1, TNPO2, ADGRE2, NDUFA13, ZNF571, GMIP, ECSIT, WDR83OS, ISYNA1, LSR, ZNF44, TM6SF2, FXYD7, FXYD5, RAB4B, DDX49, PAF1, GATAD2A, BEST2, PGPEP1, CC2D1A, TMEM161A, SARS2, REX1BD, GPATCH1, SAMD4B, DMAC2, MAP1S, KLHL26, ZNF823, MED29, TRMT1, ASF1B, USE1, PSENEN, ZNF302, ANGPTL8, LIN37, SMG9, ZNF253, IRGC, SLC7A10, LGALS14, EXOSC5, CD177, ATP13A1, RGL3, ZNF490, DOCK6, ZNF492, TSHZ3, LRFN1, GRAMD1A, ZFP14, ZNF529, PRX, ANO8, SPTBN4, SUGP1, HAMP, CATSPERG, CYP4F11, PRODH2, EPS15L1, WIZ, DMRTC2, C19orf33, CHST8, PLPPR2, ZNF574, PLEKHG2, RASAL3, MRPL34, ZSWIM4, CYP4F12, TRIR, DDA1, KXD1, TMEM38A, KCTD15, SMIM7, PLEKHF1, RBM42, BRME1, ZNF576, LRFN3, ABHD8, OCEL1, COLGALT1, IGFLR1, EPHX3, PODNL1, COQ8B, CCNP, SLC35E1, ZNF442, CEBPA-DT, ZNF430, ITPKC, PBX4, IQCN, B9D2, YJU2B, ZNF93, PLVAP, RTBDN, C19orf12, TEX101, USHBP1, WDR87, TSSK6, KIRREL2, ANKRD27, C19orf44, MRI1, FBXW9, WDR83, PDCD2L, ELOF1, ZNF333, ZNF527, CNFN, ADGRE3, GTPBP3, MPV17L2, ZNF607, NFKBID, CEP89, ZNF382, ZNF566, HSH2D, ALKBH6, SYDE1, RHPN2, ZNF30, CEACAM21, CCDC97, SAMD1, DCAF15, GADD45GIP1, YIF1B, ZNF799, ZNF625, ZNF700, ZNF439, ZNF486, ZNF682, FAAP24, TDRD12, ZNF461, ZNF585B, TIMM50, SHKBP1, DMKN, HAUS8, MVB12A, ARMC6, ZNF101, PPP1R14A, EGLN2, NACC1, MISP3, ZNF257, PGLYRP2, CCDC124, FBXO17, ARHGAP33, RASGRP4, NXNL1, ODAD3, ZNF653, ZNF526, CIB3, RLN3, CEACAM20, CALR3, ZNF441, ZNF491, ZNF440, SWSAP1, CCDC159, ZNF573, WDR88, EID2B, IRGQ, ZNF428, LRRC25, OR1I1, WTIP, ZNF792, NR2C2AP, HSPB6, CCDC105, CYP4F22, RINL, FBXO27, C19orf47, LINC00661, OR10H4, ANKLE1, IGSF23, LYPD4, HIPK4, ZNF563, ZNF420, ZNF565, FAM98C, CAPN12, DPY19L3, LGALS16, TTC9B, ZNF599, FAM187B, CILP2, PROSER3, LINC00906, LINC00662, ZNF98, ZNF738, ZNF714, ZNF681, LINC00905, ZNF569, ZNF570, DEDD2, ZNF791, ZNF564, ZNF709, ZNF433, ZNF567, ZNF383, ZNF781, EID2, ZNF780B, LGI4, SYNE4, ZNF676, ZNF100, ZNF540, SSBP4, ZNF431, ZNF675, ZNF627, DAND5, ZNF585A, GGN, CADM4, THAP8, U2AF1L4, ZNF626, NIBAN3, SYCE2, IFNL2, IFNL3, IFNL1, ZNF780A, C19orf54, PRR19, TMEM145, CXCL17, LOC284344, ZNF575, LYPD5, ZNF283, ZNF763, ZNF844, VSTM2B-DT, SCGB2B2, WDR62, ZFP82, ZNF790-AS1, LOC284412, OR10H5, NWD1, SLC25A42, LINC00663, ZNF493, MIR23AHG, ZNF875, ZNF181, ZNF260, ZNF546, VSTM2B, ZNF850, NCCRP1, SYCN, LEUTX, ZNF404, ZNF284, NANOS3, PALM3, SELENOV, ZNF429, ZNF233, TMEM205, YJEFN3, LINC01785, SBSN, ZNF829, ZNF568, B3GNT8, SLC27A1, CLEC17A, ZNF728, RPSAP58, RGS9BP, KRTDAP, ZNF790, OR7A10, NUDT19, ZNF793, ACP7, ERFL, PINLYP, SPRED3, LINC00664, DPY19L3-DT, LINC01801, HAPLN4, MIR181C, MIR23A, MIR24-2, MIR27A, ZNF506, ZNF724, PSG8, MIR181D, TMEM91, CCER2, LINC01529, SDHAF1, LOC644554, C19orf67, ZNF723, LOC648044, UCA1, LGALS7B, PHLDB3, MIR639, MIR640, MIR641, OVOL3, LOC728485, ZNF566-AS1, ZNF878, LOC729966, BORCS8, ZNF726, LINC01233, HPN-AS1, LINC01531, ZNF730, ZNF737, TMEM221, LOC100134317, SRRM5, ERICH4, TRT-AGT1-3, TRI-TAT1-1, MEF2B, ZNF729, PSG8-AS1, MIR1470, MIR1270, LOC100379224, MIR3188, MIR3189, MIR4323, PCAT19, LOC100505585, POU2F2-AS1, LOC100505715, LINC01532, LOC100505851, TMEM147-AS1, LINC00665, ADGRL1-AS1, ZNF571-AS1, THEG5, PGLS-DT, LOC100507646, MIA-RAB4B, RAB4B-EGLN2, ZNF625-ZNF20, MIR4530, WDR87BP, LINC00904, LINC01838, MIR5695, MIR5196, MIR5684, UPK1A-AS1, LIPE-AS1, LINC01533, IFNL4, LOC101927151, LINC01782, LOC101927572, ZNF529-AS1, LINC01534, LINC01535, ZNF793-AS1, LINC01480, ZNF230-DT, ZNF433-AS1, LINC01842, LOC101929124, LINC01858, LINC01859, LOC101930071, MIR6795, MIR6796, MIR6797, MIR7974, MIR8077, MIR6719, MIR6794, MIR6887, MIR1199, MIR6515, ZNF30-AS1, LINC01766, HOMER3-AS1, LOC102724908, LOC102724958, LOC102725254, LINC01224, BISPR, GNG14, LINC01841, LINC01764, LINC01855, ERVS71-1, UQCRFS1-DT, LINC02841, LOC105372383, MAP4K1-AS1, ZNF222-DT, SERTAD3-AS1, ERVK-19, LOC105376917, FARSA-AS1, SNORD135, SNORA104, LOC106783503, LINC01834, LINC01791, LOC108663985, SNORA68B, SNORD175, SNORD152, SNORA118, LOC110120869, LOC110120870, LOC110120871, LOC110120872, LOC110120873, LOC110120875, LOC110120890, LOC110120927, LOC110120942, LOC110121458, LOC110121465, LOC110599575, LOC110599577, LOC110673974, CCDC194, LOC111365151, LOC111365153, LOC111365163, LOC111413028, LOC111501767, THSD8, LOC111811970, LOC112543445, LOC112543446, LOC112543448, LOC112543452, LOC112543454, LOC112543455, LOC112543458, LOC112543459, LOC112543461, LOC112543462, LOC112543463, LOC112543464, LOC112543465, LOC112543466, LOC112543467 | | See cases | Pathogenic (Mar 30, 2010) | no assertion criteria provided | VCV000144406 |
| - GRCh37:
- Chr19:14085489-28330584
- GRCh38:
- Chr19:13974677-27839676
| BST2, ADGRE5, COMP, NCAN, NR2F6, GDF1, DNAJB1, IL12RB1, INSL3, JAK3, JUND, KCNN1, CYP4F3, BORCS8-MEF2B, RAB8A, MYO9B, NDUFB7, NOTCH3, PDE4C, PIK3R2, PRKACA, PKN1, PTGER1, RAB3A, UPF1, RFX1, RPL18A, SLC1A6, SLC5A5, TPM4, UBA52, ZNF14, ZNF708, ZNF43, ZNF66, ZNF85, ZNF90, ZNF91, ZNF99, ZNF208, ELL, CYP4F2, RFXANK, AP1M1, F2RL3, LPAR2, CRLF1, MED26, HOMER3, IL27RA, GDF15, TECR, ZNF254, SUGP2, DDX39A, AKAP8, B3GNT3, KLF2, IFI30, CHERP, CERS1, GIPC1, ILVBL, CYP4F8, COPE, ADGRL1, UNC13A, MAST3, FCHO1, SIN3B, CRTC1, MAU2, BRD4, CASP14, FKBP8, TMEM59L, PGLS, LSM4, FAM32A, OR7A17, OR10H3, OR10H2, OR10H1, OR7C2, OR7A5, OR7C1, SNORA68, AKAP8L, ARRDC2, CPAMD8, BABAM1, ADGRE2, NDUFA13, GMIP, ISYNA1, TM6SF2, DDX49, GATAD2A, PGPEP1, TMEM161A, REX1BD, MAP1S, KLHL26, ASF1B, USE1, ZNF253, ATP13A1, ZNF492, ANO8, SUGP1, CYP4F11, EPS15L1, WIZ, RASAL3, MRPL34, CYP4F12, DDA1, KXD1, TMEM38A, SMIM7, ABHD8, OCEL1, COLGALT1, EPHX3, SLC35E1, ZNF430, PBX4, IQCN, ZNF93, PLVAP, USHBP1, TSSK6, C19orf44, ZNF333, ADGRE3, GTPBP3, MPV17L2, HSH2D, SYDE1, SAMD1, ZNF486, ZNF682, HAUS8, MVB12A, ARMC6, ZNF101, MISP3, ZNF257, PGLYRP2, CCDC124, NXNL1, CIB3, RLN3, CALR3, LRRC25, OR1I1, NR2C2AP, CCDC105, CYP4F22, LINC00661, OR10H4, ANKLE1, CILP2, LINC00662, ZNF98, ZNF738, ZNF714, ZNF681, LINC00905, ZNF676, ZNF100, SSBP4, ZNF431, ZNF675, ZNF626, NIBAN3, OR10H5, NWD1, SLC25A42, LINC00663, ZNF493, PALM3, ZNF429, YJEFN3, LINC01785, SLC27A1, CLEC17A, ZNF728, RPSAP58, OR7A10, LINC00664, HAPLN4, ZNF506, ZNF724, C19orf67, ZNF723, UCA1, MIR639, MIR640, LOC729966, BORCS8, ZNF726, LINC01233, ZNF730, ZNF737, TMEM221, MEF2B, ZNF729, MIR1470, MIR1270, MIR3188, MIR3189, LOC100505851, ADGRL1-AS1, PGLS-DT, LOC101927151, LINC01842, LOC101929124, LINC01858, LINC01859, MIR6795, MIR1199, HOMER3-AS1, LOC102725254, LINC01224, BISPR, LINC01841, LINC01764, LINC01855, ERVS71-1, ERVK-19, LOC105376917, SNORA104, LOC106783503, SNORA118, CCDC194, LOC112543461, LOC112543462, LOC112543463, LOC112543464, LOC112543465, LOC112543466, LOC112543467, LOC112543468, LOC112543469, LOC112543470, LOC112543471, LOC112543472, LOC112543473, LOC113939968, LOC116276505, LOC116276506, LOC116276507, LOC116276508, LOC116276509, LOC116276510, LOC116276511, LOC116276512 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter | VCV000059114 |
| - GRCh37:
- Chr19:15244405-24376393
- GRCh38:
- Chr19:15133594-24193591
| BST2, COMP, NCAN, NR2F6, GDF1, IL12RB1, INSL3, JAK3, JUND, KCNN1, CYP4F3, BORCS8-MEF2B, RAB8A, MYO9B, NOTCH3, PDE4C, PIK3R2, RAB3A, UPF1, RPL18A, SLC5A5, TPM4, UBA52, ZNF14, ZNF708, ZNF43, ZNF66, ZNF85, ZNF90, ZNF91, ZNF99, ZNF208, ELL, CYP4F2, RFXANK, AP1M1, F2RL3, LPAR2, CRLF1, MED26, HOMER3, GDF15, ZNF254, SUGP2, AKAP8, B3GNT3, KLF2, IFI30, CHERP, CERS1, CYP4F8, COPE, UNC13A, MAST3, FCHO1, SIN3B, CRTC1, MAU2, BRD4, FKBP8, TMEM59L, PGLS, LSM4, FAM32A, OR10H3, OR10H2, OR10H1, SNORA68, AKAP8L, ARRDC2, CPAMD8, BABAM1, NDUFA13, GMIP, ISYNA1, TM6SF2, DDX49, GATAD2A, PGPEP1, TMEM161A, REX1BD, MAP1S, KLHL26, USE1, ZNF253, ATP13A1, ZNF492, ANO8, SUGP1, CYP4F11, EPS15L1, WIZ, RASAL3, MRPL34, CYP4F12, DDA1, KXD1, TMEM38A, SMIM7, ABHD8, OCEL1, COLGALT1, EPHX3, SLC35E1, ZNF430, PBX4, IQCN, ZNF93, PLVAP, USHBP1, TSSK6, C19orf44, GTPBP3, MPV17L2, HSH2D, ZNF486, ZNF682, HAUS8, MVB12A, ARMC6, ZNF101, ZNF257, PGLYRP2, CCDC124, NXNL1, CIB3, CALR3, LRRC25, NR2C2AP, CYP4F22, LINC00661, OR10H4, ANKLE1, CILP2, ZNF98, ZNF738, ZNF714, ZNF681, LINC00905, ZNF676, ZNF100, SSBP4, ZNF431, ZNF675, ZNF626, NIBAN3, OR10H5, NWD1, SLC25A42, LINC00663, ZNF493, ZNF429, YJEFN3, LINC01785, SLC27A1, ZNF728, RPSAP58, LINC00664, HAPLN4, ZNF506, ZNF724, ZNF723, UCA1, MIR640, LOC729966, BORCS8, ZNF726, LINC01233, ZNF730, ZNF737, TMEM221, MEF2B, ZNF729, MIR1470, MIR1270, MIR3188, MIR3189, LOC100505851, PGLS-DT, LOC101929124, LINC01858, LINC01859, MIR6795, HOMER3-AS1, LOC102725254, LINC01224, BISPR, LINC01764, LINC01855, ERVS71-1, LOC105376917, LOC106783503, SNORA118, CCDC194, LOC112543462, LOC112543463, LOC112543464, LOC112543465, LOC112543466, LOC112543467, LOC112543468, LOC112543469, LOC112543470, LOC112543471, LOC112543472, LOC112543473, LOC116276507, LOC116276508, LOC116276509, LOC116276510, LOC116276511, LOC116276512 | | See cases | Pathogenic (Dec 22, 2010) | no assertion criteria provided | VCV000147522 |
| - GRCh37:
- Chr19:17287576-35415054
- GRCh38:
- Chr19:17176767-34924150
| BST2, CCNE1, CEBPA, CEBPG, COMP, NCAN, NR2F6, GDF1, GPI, IL12RB1, INSL3, JAK3, JUND, KCNN1, LRP3, BORCS8-MEF2B, MYO9B, PDE4C, PEPD, PIK3R2, RAB3A, UPF1, RPL18A, SLC5A5, UBA52, UQCRFS1, ZNF14, ZNF708, ZNF43, ZNF66, ZNF85, ZNF90, ZNF91, ZNF99, ZNF208, ELL, RFXANK, URI1, PDCD5, LPAR2, CRLF1, HOMER3, GDF15, ZNF254, GARRE1, ZNF536, UBA2, SUGP2, B3GNT3, IFI30, CERS1, POP4, SLC7A9, COPE, ZNF507, UNC13A, MAST3, FCHO1, CRTC1, MAU2, FKBP8, TMEM59L, PGLS, LSM4, LSM14A, SNORA68, ARRDC2, BABAM1, NDUFA13, GMIP, ISYNA1, TM6SF2, DDX49, GATAD2A, PGPEP1, TMEM161A, REX1BD, GPATCH1, MAP1S, KLHL26, USE1, ZNF302, ZNF253, SLC7A10, ATP13A1, ZNF492, TSHZ3, ANO8, SUGP1, CHST8, MRPL34, DDA1, KXD1, KCTD15, PLEKHF1, ABHD8, OCEL1, COLGALT1, CEBPA-DT, ZNF430, PBX4, IQCN, ZNF93, PLVAP, C19orf12, USHBP1, TSSK6, ANKRD27, PDCD2L, GTPBP3, MPV17L2, CEP89, RHPN2, ZNF30, ZNF486, ZNF682, FAAP24, TDRD12, MVB12A, ARMC6, ZNF101, ZNF257, CCDC124, NXNL1, WDR88, LRRC25, WTIP, NR2C2AP, ANKLE1, DPY19L3, ZNF599, CILP2, LINC00906, LINC00662, ZNF98, ZNF738, ZNF714, ZNF681, ZNF676, ZNF100, SSBP4, ZNF431, ZNF675, ZNF626, NIBAN3, VSTM2B-DT, SCGB2B2, SLC25A42, LINC00663, ZNF493, ZNF181, VSTM2B, ZNF429, YJEFN3, LINC01785, SLC27A1, ZNF728, RPSAP58, RGS9BP, NUDT19, LINC00664, DPY19L3-DT, LINC01801, HAPLN4, ZNF506, ZNF724, ZNF723, MIR640, LOC729966, BORCS8, ZNF726, LINC01233, ZNF730, ZNF737, TMEM221, TRT-AGT1-3, MEF2B, ZNF729, MIR1270, MIR3188, MIR3189, LINC01532, LOC100505851, THEG5, PGLS-DT, LINC00904, LINC01838, LINC01533, LOC101927151, LINC01782, LOC101929124, LINC01858, LINC01859, ZNF30-AS1, HOMER3-AS1, LOC102724908, LOC102724958, LOC102725254, LINC01224, BISPR, ERVS71-1, UQCRFS1-DT, LINC02841, ERVK-19, LOC105376917, LOC106783503, LINC01834, LINC01791, SNORA68B, LOC110120869, LOC110120870, LOC110120871, LOC110120872, LOC110120873, LOC110120875, LOC110120890, LOC110120927, LOC110120942, CCDC194, LOC111365153, LOC111413028, LOC112543463, LOC112543464, LOC112543465, LOC112543466, LOC112543467, LOC112543468, LOC112543469, LOC112543470, LOC112543471, LOC112543472, LOC112543473, LOC112543479, LOC112543483, LOC112543484, LOC113939969, LOC116276507, LOC116276508, LOC116276509, LOC116276510, LOC116276511, LOC116276512 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter | VCV000057042 |
| - GRCh37:
- Chr19:18979423
- GRCh38:
- Chr19:18868614
| GDF1, CERS1 | E368K | Epilepsy, progressive myoclonic 8 | Uncertain significance (Feb 3, 2020) | criteria provided, single submitter | VCV001007022 |
| - GRCh37:
- Chr19:18979433-18979435
- GRCh38:
- Chr19:18868624-18868626
| GDF1, CERS1 | M364del | Bilateral right-sidedness sequence | Pathogenic (Apr 18, 2018) | no assertion criteria provided | VCV000522570 |
| - GRCh37:
- Chr19:18979434
- GRCh38:
- Chr19:18868625
| GDF1, CERS1 | M364T | Congenital heart defects, not provided, Epilepsy, progressive myoclonic 8, Transposition of the great arteries, dextro-looped 3 | Conflicting interpretations of pathogenicity (Feb 1, 2020) | criteria provided, conflicting interpretations | VCV000522571 |
| - GRCh37:
- Chr19:18979450
- GRCh38:
- Chr19:18868641
| GDF1, CERS1 | R359W | Heterotaxia | Uncertain significance (Jul 19, 2018) | criteria provided, single submitter | VCV000660810 |
| - GRCh37:
- Chr19:18979473-18979474
- GRCh38:
- Chr19:18868664-18868665
| GDF1, CERS1 | | Epilepsy, progressive myoclonic 8 | Uncertain significance (May 11, 2020) | criteria provided, single submitter | VCV000998691 |
| - GRCh37:
- Chr19:18979475-18979478
- GRCh38:
- Chr19:18868666-18868669
| GDF1, CERS1 | F349fs | not provided, Heterotaxia | Pathogenic/Likely pathogenic (May 3, 2020) | criteria provided, multiple submitters, no conflicts | VCV000410641 |
| - GRCh37:
- Chr19:18979476-18979478
- GRCh38:
- Chr19:18868667-18868669
| GDF1, CERS1 | F350del | Epilepsy, progressive myoclonic 8, Heterotaxia | Uncertain significance (Jul 21, 2017) | criteria provided, single submitter | VCV000471935 |
| - GRCh37:
- Chr19:18979487
- GRCh38:
- Chr19:18868678
| GDF1, CERS1 | | not provided | Likely benign (Apr 2, 2018) | criteria provided, single submitter | VCV000705539 |
| - GRCh37:
- Chr19:18979495
- GRCh38:
- Chr19:18868686
| GDF1, CERS1 | P344S | Heterotaxia, Epilepsy, progressive myoclonic 8 | Uncertain significance (Apr 23, 2020) | criteria provided, single submitter | VCV000659753 |
| - GRCh37:
- Chr19:18979496
- GRCh38:
- Chr19:18868687
| GDF1, CERS1 | | not provided | Likely benign (Jul 10, 2018) | criteria provided, single submitter | VCV000705802 |
| - GRCh37:
- Chr19:18979497
- GRCh38:
- Chr19:18868688
| GDF1, CERS1 | S343W | Epilepsy, progressive myoclonic 8 | Uncertain significance (Aug 8, 2019) | criteria provided, single submitter | VCV000959657 |
| - GRCh37:
- Chr19:18979528
- GRCh38:
- Chr19:18868719
| GDF1, CERS1 | D333N | Transposition of the great arteries, dextro-looped 3 | Uncertain significance (Sep 10, 2018) | criteria provided, single submitter | VCV001031988 |
| - GRCh37:
- Chr19:18979540
- GRCh38:
- Chr19:18868731
| GDF1, CERS1 | P329S | Heterotaxia | Uncertain significance (Jul 21, 2017) | criteria provided, single submitter | VCV000471940 |
| - GRCh37:
- Chr19:18979573
- GRCh38:
- Chr19:18868764
| GDF1, CERS1 | A318T | not provided | Likely pathogenic (Feb 16, 2017) | criteria provided, single submitter | VCV000418233 |
| - GRCh37:
- Chr19:18979600
- GRCh38:
- Chr19:18868791
| GDF1, CERS1 | S309P | Epilepsy, progressive myoclonic 8, Heterotaxia | Conflicting interpretations of pathogenicity (Nov 26, 2019) | criteria provided, conflicting interpretations | VCV000220404 |
| - GRCh37:
- Chr19:18979613
- GRCh38:
- Chr19:18868804
| GDF1, CERS1 | | Heterotaxia | Likely benign (Dec 31, 2019) | criteria provided, single submitter | VCV000471939 |
| - GRCh37:
- Chr19:18979615-18979616
- GRCh38:
- Chr19:18868806-18868807
| GDF1, CERS1 | V304fs | Bilateral right-sidedness sequence, not provided | Likely pathogenic (Aug 1, 2020) | criteria provided, single submitter | VCV000065389 |
| - GRCh37:
- Chr19:18979642
- GRCh38:
- Chr19:18868833
| GDF1, CERS1 | Y295N | Heterotaxia, Epilepsy, progressive myoclonic 8 | Uncertain significance (Oct 25, 2017) | criteria provided, single submitter | VCV000539304 |
| - GRCh37:
- Chr19:18979695
- GRCh38:
- Chr19:18868886
| GDF1, CERS1 | R277H | Epilepsy, progressive myoclonic 8 | Uncertain significance (Jun 27, 2020) | criteria provided, single submitter | VCV001001308 |
| - GRCh37:
- Chr19:18979711-18979738
- GRCh38:
- Chr19:18868902-18868929
| GDF1, CERS1 | P263fs | Inborn genetic diseases | Likely pathogenic (Dec 3, 2019) | criteria provided, single submitter | VCV000985271 |
| - GRCh37:
- Chr19:18979713
- GRCh38:
- Chr19:18868904
| GDF1, CERS1 | R271P | Heterotaxia | Uncertain significance (Nov 7, 2019) | criteria provided, single submitter | VCV000966764 |
| - GRCh37:
- Chr19:18979724-18979749
- GRCh38:
- Chr19:18868915-18868940
| GDF1, CERS1 | L259fs | not provided | Likely pathogenic (Feb 13, 2017) | criteria provided, single submitter | VCV000418232 |
| - GRCh37:
- Chr19:18979725
- GRCh38:
- Chr19:18868916
| GDF1, CERS1 | C267Y | Double outlet right ventricle | Pathogenic (Nov 1, 2007) | no assertion criteria provided | VCV000006748 |
| - GRCh37:
- Chr19:18979737
- GRCh38:
- Chr19:18868928
| GDF1, CERS1 | P263L | Epilepsy, progressive myoclonic 8, Heterotaxia | Uncertain significance (Jul 14, 2017) | criteria provided, single submitter | VCV000471938 |
| - GRCh37:
- Chr19:18979745
- GRCh38:
- Chr19:18868936
| GDF1, CERS1 | | not provided | Uncertain significance (Jul 9, 2015) | criteria provided, single submitter | VCV000281627 |
| - GRCh37:
- Chr19:18979758
- GRCh38:
- Chr19:18868949
| GDF1, CERS1 | E256G | Epilepsy, progressive myoclonic 8 | Uncertain significance (Oct 14, 2020) | criteria provided, single submitter | VCV001045015 |
| - GRCh37:
- Chr19:18979844
- GRCh38:
- Chr19:18869035
| GDF1, CERS1 | C227* | not provided, Epilepsy, progressive myoclonic 8, Bilateral right-sidedness sequence, Transposition of the great arteries, dextro-looped 3 | Conflicting interpretations of pathogenicity (Nov 5, 2020) | criteria provided, conflicting interpretations | VCV000006747 |
| - GRCh37:
- Chr19:18979857-18979858
- GRCh38:
- Chr19:18869048-18869049
| CERS1, GDF1 | A223fs | not provided | Pathogenic (May 3, 2020) | criteria provided, single submitter | VCV000915273 |
| - GRCh37:
- Chr19:18979867
- GRCh38:
- Chr19:18869058
| GDF1, CERS1 | R220S | Epilepsy, progressive myoclonic 8, Heterotaxia | Uncertain significance (Jan 19, 2017) | criteria provided, single submitter | VCV000471937 |
| - GRCh37:
- Chr19:18979876
- GRCh38:
- Chr19:18869067
| GDF1, CERS1 | L217V | Epilepsy, progressive myoclonic 8, Transposition of the great arteries, dextro-looped 3 | Uncertain significance (Jan 6, 2020) | criteria provided, multiple submitters, no conflicts | VCV001010796 |
| - GRCh37:
- Chr19:18979917
- GRCh38:
- Chr19:18869108
| GDF1, CERS1 | W203* | Inborn genetic diseases | Likely pathogenic (Apr 4, 2018) | criteria provided, single submitter | VCV000985628 |
| - GRCh37:
- Chr19:18979926
- GRCh38:
- Chr19:18869117
| GDF1, CERS1 | G200D | Heterotaxia | Uncertain significance (Apr 4, 2016) | criteria provided, single submitter | VCV000410639 |
| - GRCh37:
- Chr19:18979938-18979939
- GRCh38:
- Chr19:18869129-18869130
| GDF1, CERS1 | A196fs | Heterotaxia | Pathogenic (Nov 7, 2018) | criteria provided, single submitter | VCV000665854 |
| - GRCh37:
- Chr19:18979943
- GRCh38:
- Chr19:18869134
| GDF1, CERS1 | | not provided | Likely benign (May 15, 2018) | criteria provided, single submitter | VCV000704741 |
| - GRCh37:
- Chr19:18979976
- GRCh38:
- Chr19:18869167
| GDF1, CERS1 | | Heterotaxia | Likely benign (Oct 10, 2017) | criteria provided, single submitter | VCV000539305 |
| - GRCh37:
- Chr19:18979988
- GRCh38:
- Chr19:18869179
| CERS1, GDF1 | | Heterotaxia | Likely benign (Dec 31, 2019) | criteria provided, single submitter | VCV000416262 |
| - GRCh37:
- Chr19:18980040
- GRCh38:
- Chr19:18869231
| GDF1, CERS1 | G162D | Tetralogy of Fallot, not provided, Heterotaxia
| Conflicting interpretations of pathogenicity (Dec 31, 2019) | criteria provided, conflicting interpretations | VCV000006749 |
| - GRCh37:
- Chr19:18980054-18980055
- GRCh38:
- Chr19:18869245-18869246
| GDF1, CERS1 | | not specified, Heterotaxia, Epilepsy, progressive myoclonic 8
| Benign (Dec 31, 2019) | criteria provided, multiple submitters, no conflicts | VCV000215496 |
| - GRCh37:
- Chr19:18980067
- GRCh38:
- Chr19:18869258
| GDF1, CERS1 | A153V | Epilepsy, progressive myoclonic 8 | Uncertain significance (Nov 30, 2019) | criteria provided, single submitter | VCV000837752 |
| - GRCh37:
- Chr19:18980121
- GRCh38:
- Chr19:18869312
| GDF1, CERS1 | A135V | Heterotaxia | Uncertain significance (Sep 30, 2019) | criteria provided, single submitter | VCV000410640 |
| - GRCh37:
- Chr19:18980124
- GRCh38:
- Chr19:18869315
| GDF1, CERS1 | S134W | not provided | Likely pathogenic (Mar 8, 2013) | criteria provided, single submitter | VCV000418231 |
| - GRCh37:
- Chr19:18980137
- GRCh38:
- Chr19:18869328
| GDF1, CERS1 | V130I | not specified, Heterotaxia | Benign (Dec 31, 2019) | criteria provided, multiple submitters, no conflicts | VCV000258161 |
| - GRCh37:
- Chr19:18980145
- GRCh38:
- Chr19:18869336
| GDF1, CERS1 | W127* | Transposition of the great arteries, dextro-looped 3 | Likely pathogenic (Jun 12, 2020) | criteria provided, single submitter | VCV000977094 |
| - GRCh37:
- Chr19:18980154
- GRCh38:
- Chr19:18869345
| GDF1, CERS1 | C124F | not provided | Likely pathogenic (Feb 7, 2017) | criteria provided, single submitter | VCV000392938 |
| - GRCh37:
- Chr19:18980158
- GRCh38:
- Chr19:18869349
| GDF1, CERS1 | H123Y | not provided | Uncertain significance (Oct 1, 2019) | criteria provided, single submitter | VCV000870880 |
| - GRCh37:
- Chr19:18980168
- GRCh38:
- Chr19:18869359
| CERS1, GDF1 | | Heterotaxia | Likely benign (Dec 31, 2019) | criteria provided, single submitter | VCV000695263 |
| - GRCh37:
- Chr19:18980172
- GRCh38:
- Chr19:18869363
| GDF1, CERS1 | A118V | not specified, Heterotaxia | Benign (Dec 30, 2019) | criteria provided, multiple submitters, no conflicts | VCV000258160 |
| - GRCh37:
- Chr19:18980195
- GRCh38:
- Chr19:18869386
| GDF1, CERS1 | | Heterotaxia | Likely benign (Nov 27, 2017) | criteria provided, single submitter | VCV000539306 |
| - GRCh37:
- Chr19:18980207
- GRCh38:
- Chr19:18869398
| GDF1, CERS1 | | Heterotaxia | Benign (Dec 31, 2019) | criteria provided, single submitter | VCV000539307 |
| - GRCh37:
- Chr19:18980213
- GRCh38:
- Chr19:18869404
| GDF1, CERS1 | | not specified | Benign (Mar 16, 2016) | criteria provided, multiple submitters, no conflicts | VCV000198776 |
| - GRCh37:
- Chr19:18980772
- GRCh38:
- Chr19:18869963
| GDF1, CERS1 | | not specified | Benign (Aug 6, 2013) | criteria provided, multiple submitters, no conflicts | VCV000137457 |
| - GRCh37:
- Chr19:18980828
- GRCh38:
- Chr19:18870019
| GDF1, CERS1 | V97fs | Heterotaxia | Pathogenic (Apr 30, 2019) | criteria provided, single submitter | VCV000850258 |
| - GRCh37:
- Chr19:18980881
- GRCh38:
- Chr19:18870072
| GDF1, CERS1 | R79Q | Epilepsy, progressive myoclonic 8 | Uncertain significance (Aug 30, 2020) | criteria provided, single submitter | VCV001041827 |
| - GRCh37:
- Chr19:18980914
- GRCh38:
- Chr19:18870105
| GDF1, CERS1 | R68H | not provided | Uncertain significance (Sep 14, 2015) | criteria provided, single submitter | VCV000282357 |
| - GRCh37:
- Chr19:18980921
- GRCh38:
- Chr19:18870112
| GDF1, CERS1 | F66L | Epilepsy, progressive myoclonic 8 | Uncertain significance (Aug 6, 2020) | criteria provided, single submitter | VCV000861589 |
| - GRCh37:
- Chr19:18980927
- GRCh38:
- Chr19:18870118
| CERS1, GDF1 | R64C | Heterotaxia, Epilepsy, progressive myoclonic 8 | Uncertain significance (May 20, 2020) | criteria provided, single submitter | VCV000410638 |
| - GRCh37:
- Chr19:18980928
- GRCh38:
- Chr19:18870119
| GDF1, CERS1 | W63* | Heterotaxia | Likely pathogenic (Oct 11, 2018) | criteria provided, single submitter | VCV000664346 |
| - GRCh37:
- Chr19:18980932
- GRCh38:
- Chr19:18870123
| GDF1, CERS1 | M62T | Heterotaxia | Uncertain significance (Nov 7, 2018) | criteria provided, single submitter | VCV000665856 |
| - GRCh37:
- Chr19:18980958
- GRCh38:
- Chr19:18870149
| GDF1, CERS1 | | Heterotaxia | Likely benign (Dec 31, 2019) | criteria provided, single submitter | VCV000539308 |
| - GRCh37:
- Chr19:18980964
- GRCh38:
- Chr19:18870155
| GDF1, CERS1 | | not provided | Likely benign (Nov 9, 2016) | criteria provided, single submitter | VCV000416263 |
| - GRCh37:
- Chr19:18980980
- GRCh38:
- Chr19:18870171
| GDF1, CERS1 | R46P | Transposition of the great arteries, dextro-looped 3 | Uncertain significance (Mar 20, 2019) | criteria provided, single submitter | VCV000930879 |
| - GRCh37:
- Chr19:18980997
- GRCh38:
- Chr19:18870188
| CERS1, GDF1 | | Heterotaxia | Likely benign (Dec 31, 2019) | criteria provided, single submitter | VCV000471936 |
| - GRCh37:
- Chr19:18981037
- GRCh38:
- Chr19:18870228
| GDF1, CERS1 | T27I | Heterotaxia | Uncertain significance (Mar 28, 2018) | criteria provided, single submitter | VCV000581534 |
| - GRCh37:
- Chr19:18981062
- GRCh38:
- Chr19:18870253
| GDF1, CERS1 | L19V | not specified, not provided, Heterotaxia
| Conflicting interpretations of pathogenicity (Dec 31, 2019) | criteria provided, conflicting interpretations | VCV000258162 |
| - GRCh37:
- Chr19:18981119
- GRCh38:
- Chr19:18870310
| GDF1, CERS1 | | not provided | Uncertain significance (Aug 1, 2020) | criteria provided, single submitter | VCV001013149 |
| - GRCh37:
- Chr19:18981127
- GRCh38:
- Chr19:18870318
| GDF1, CERS1 | | not specified | Likely benign | criteria provided, single submitter | VCV000258159 |
| - GRCh37:
- Chr19:18981421
- GRCh38:
- Chr19:18870612
| GDF1, CERS1 | L340V | Epilepsy, progressive myoclonic 8 | Uncertain significance (Nov 2, 2020) | criteria provided, single submitter | VCV000475367 |
| - GRCh37:
- Chr19:18981430
- GRCh38:
- Chr19:18870621
| GDF1, CERS1 | | Epilepsy, progressive myoclonic 8 | Uncertain significance (Jan 22, 2020) | criteria provided, single submitter | VCV000542131 |
| - GRCh37:
- Chr19:18989760
- GRCh38:
- Chr19:18878951
| GDF1, CERS1 | S232I, S330I | Epilepsy, progressive myoclonic 8 | Uncertain significance (Dec 11, 2018) | criteria provided, single submitter | VCV000642064 |
| - GRCh37:
- Chr19:18989787
- GRCh38:
- Chr19:18878978
| GDF1, CERS1 | R306Q, R223Q, R321Q | Epilepsy, progressive myoclonic 8 | Uncertain significance (May 26, 2020) | criteria provided, single submitter | VCV001036000 |
| - GRCh37:
- Chr19:18989804
- GRCh38:
- Chr19:18878995
| CERS1, GDF1 | H315Q, H217Q | Epilepsy, progressive myoclonic 8 | Uncertain significance (May 18, 2019) | criteria provided, single submitter | VCV000943499 |
| - GRCh37:
- Chr19:18989837
- GRCh38:
- Chr19:18879028
| CERS1, GDF1 | | Epilepsy, progressive myoclonic 8 | Likely benign (Dec 31, 2019) | criteria provided, single submitter | VCV000755559 |
| - GRCh37:
- Chr19:18989843
- GRCh38:
- Chr19:18879034
| GDF1, CERS1 | | Epilepsy, progressive myoclonic 8 | Likely benign (May 17, 2017) | criteria provided, single submitter | VCV000475379 |
| - GRCh37:
- Chr19:18989846
- GRCh38:
- Chr19:18879037
| GDF1, CERS1 | Y203*, Y301* | Epilepsy, progressive myoclonic 8 | Uncertain significance (Sep 19, 2019) | criteria provided, single submitter | VCV000956495 |
| - GRCh37:
- Chr19:18989851
- GRCh38:
- Chr19:18879042
| GDF1, CERS1 | | Epilepsy, progressive myoclonic 8 | Uncertain significance (Jan 5, 2018) | criteria provided, single submitter | VCV000542132 |
| - GRCh37:
- Chr19:18989859
- GRCh38:
- Chr19:18879050
| GDF1, CERS1 | | not specified | Benign (Jan 9, 2013) | criteria provided, single submitter | VCV000137456 |
| - GRCh37:
- Chr19:18990042
- GRCh38:
- Chr19:18879233
| GDF1, CERS1 | | not provided | Likely benign (Feb 23, 2018) | criteria provided, single submitter | VCV000717275 |
| - GRCh37:
- Chr19:18990052
- GRCh38:
- Chr19:18879243
| GDF1, CERS1 | | Epilepsy, progressive myoclonic 8 | Likely benign (Dec 31, 2019) | criteria provided, single submitter | VCV000475378 |
| - GRCh37:
- Chr19:18990074
- GRCh38:
- Chr19:18879265
| GDF1, CERS1 | | not provided | Likely benign (Dec 3, 2018) | criteria provided, single submitter | VCV000796400 |
| - GRCh37:
- Chr19:18990093
- GRCh38:
- Chr19:18879284
| GDF1, CERS1 | A286V, A188V | Epilepsy, progressive myoclonic 8 | Uncertain significance (Jul 24, 2020) | criteria provided, single submitter | VCV000475377 |
| - GRCh37:
- Chr19:18990099
- GRCh38:
- Chr19:18879290
| GDF1, CERS1 | F284S, F186S | Epilepsy, progressive myoclonic 8 | Uncertain significance (Aug 29, 2019) | criteria provided, single submitter | VCV000576500 |
| - GRCh37:
- Chr19:18990114
- GRCh38:
- Chr19:18879305
| GDF1, CERS1 | P181R, P279R | Epilepsy, progressive myoclonic 8 | Uncertain significance (Feb 10, 2020) | criteria provided, single submitter | VCV000663158 |
| - GRCh37:
- Chr19:18990115
- GRCh38:
- Chr19:18879306
| GDF1, CERS1 | P181A, P279A | Epilepsy, progressive myoclonic 8 | Uncertain significance (Oct 1, 2020) | criteria provided, single submitter | VCV001027071 |
| - GRCh37:
- Chr19:18990116
- GRCh38:
- Chr19:18879307
| GDF1, CERS1 | | Epilepsy, progressive myoclonic 8 | Likely benign (Dec 5, 2017) | criteria provided, single submitter | VCV000542134 |
| - GRCh37:
- Chr19:18990129
- GRCh38:
- Chr19:18879320
| GDF1, CERS1 | T259M, T274M, T176M | Epilepsy, progressive myoclonic 8 | Uncertain significance (Jun 15, 2020) | criteria provided, single submitter | VCV001036463 |
| - GRCh37:
- Chr19:18990132
- GRCh38:
- Chr19:18879323
| GDF1, CERS1 | R175H, R273H | Epilepsy, progressive myoclonic 8 | Uncertain significance (Oct 5, 2020) | criteria provided, single submitter | VCV001017566 |
| - GRCh37:
- Chr19:18990163
- GRCh38:
- Chr19:18879354
| GDF1, CERS1 | V263I, V165I | Epilepsy, progressive myoclonic 8 | Uncertain significance (Dec 8, 2019) | criteria provided, single submitter | VCV000475376 |
| - GRCh37:
- Chr19:18990171
- GRCh38:
- Chr19:18879362
| GDF1, CERS1 | P260L, P162L | Epilepsy, progressive myoclonic 8 | Uncertain significance (Sep 20, 2019) | criteria provided, single submitter | VCV000943251 |
| - GRCh37:
- Chr19:18990187
- GRCh38:
- Chr19:18879378
| GDF1, CERS1 | R157C, R255C | Epilepsy, progressive myoclonic 8 | Conflicting interpretations of pathogenicity (Sep 15, 2020) | criteria provided, conflicting interpretations | VCV000801420 |
| - GRCh37:
- Chr19:18991074
- GRCh38:
- Chr19:18880265
| GDF1, CERS1 | | not provided | Likely benign (Oct 19, 2017) | criteria provided, single submitter | VCV000712246 |
| - GRCh37:
- Chr19:18991093
- GRCh38:
- Chr19:18880284
| GDF1, CERS1 | G248S, G150S | Epilepsy, progressive myoclonic 8 | Uncertain significance (Jun 1, 2018) | criteria provided, single submitter | VCV000568282 |
| - GRCh37:
- Chr19:18991097
- GRCh38:
- Chr19:18880288
| GDF1, CERS1 | S148R, S246R | Epilepsy, progressive myoclonic 8 | Uncertain significance (Aug 20, 2020) | criteria provided, single submitter | VCV001024152 |
| - GRCh37:
- Chr19:18991126
- GRCh38:
- Chr19:18880317
| GDF1, CERS1 | A237T, A139T, A222T | Epilepsy, progressive myoclonic 8 | Uncertain significance (Oct 24, 2020) | criteria provided, single submitter | VCV001046336 |
| - GRCh37:
- Chr19:18991127
- GRCh38:
- Chr19:18880318
| GDF1, CERS1 | H236Q, H138Q | Epilepsy, progressive myoclonic 8 | Uncertain significance (Mar 6, 2020) | criteria provided, single submitter | VCV000542126 |
| - GRCh37:
- Chr19:18991134
- GRCh38:
- Chr19:18880325
| GDF1, CERS1 | R136L, R234L | Epilepsy, progressive myoclonic 8 | Uncertain significance (Mar 17, 2020) | criteria provided, single submitter | VCV001009837 |
| - GRCh37:
- Chr19:18991134
- GRCh38:
- Chr19:18880325
| GDF1, CERS1 | R136Q, R234Q | Epilepsy, progressive myoclonic 8 | Uncertain significance (Apr 8, 2019) | criteria provided, single submitter | VCV000861075 |