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Items: 1 to 100 of 399

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
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 casesPathogenic
(Mar 30, 2010)
no assertion criteria provided
2.
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 casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
3.
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 casesPathogenic
(Dec 22, 2010)
no assertion criteria provided
4.
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 casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
5.
GRCh37:
Chr19:18979421
GRCh38:
Chr19:18868612
GDF1, CERS1not providedLikely benign
(Sep 6, 2019)
criteria provided, single submitter
6.
GRCh37:
Chr19:18979423
GRCh38:
Chr19:18868614
GDF1, CERS1E368Knot providedUncertain significance
(Aug 31, 2021)
criteria provided, single submitter
7.
GRCh37:
Chr19:18979429
GRCh38:
Chr19:18868620
CERS1, GDF1V366LInborn genetic diseasesUncertain significance
(Dec 8, 2021)
criteria provided, single submitter
8.
GRCh37:
Chr19:18979430
GRCh38:
Chr19:18868621
CERS1, GDF1not providedLikely benign
(Aug 27, 2022)
criteria provided, single submitter
9.
GRCh37:
Chr19:18979433
GRCh38:
Chr19:18868624
GDF1, CERS1M364Inot providedLikely pathogenic
(Aug 24, 2021)
criteria provided, single submitter
10.
GRCh37:
Chr19:18979433-18979435
GRCh38:
Chr19:18868624-18868626
CERS1, GDF1M364delRight atrial isomerismPathogenic
(Apr 18, 2018)
no assertion criteria provided
11.
GRCh37:
Chr19:18979434
GRCh38:
Chr19:18868625
CERS1, GDF1M364TProgressive myoclonic epilepsy type 8, not providedConflicting interpretations of pathogenicity
(Jun 14, 2022)
criteria provided, conflicting interpretations
12.
GRCh37:
Chr19:18979450
GRCh38:
Chr19:18868641
CERS1, GDF1R359WVisceral heterotaxy, not providedUncertain significance
(Oct 13, 2022)
criteria provided, single submitter
13.
GRCh37:
Chr19:18979473-18979474
GRCh38:
Chr19:18868664-18868665
CERS1, GDF1not providedUncertain significance
(Sep 2, 2021)
criteria provided, single submitter
14.
GRCh37:
Chr19:18979475-18979478
GRCh38:
Chr19:18868666-18868669
CERS1, GDF1F349fsnot provided, Visceral heterotaxy, Congenital heart defects, multiple types, 6
Pathogenic/Likely pathogenic
(Aug 15, 2022)
criteria provided, multiple submitters, no conflicts
15.
GRCh37:
Chr19:18979476-18979478
GRCh38:
Chr19:18868667-18868669
CERS1, GDF1F350delVisceral heterotaxy, Progressive myoclonic epilepsy type 8Uncertain significance
(Aug 31, 2021)
criteria provided, single submitter
16.
GRCh37:
Chr19:18979484
GRCh38:
Chr19:18868675
CERS1, GDF1not providedLikely benign
(May 29, 2022)
criteria provided, single submitter
17.
GRCh37:
Chr19:18979487
GRCh38:
Chr19:18868678
CERS1, GDF1not providedLikely benign
(Apr 2, 2018)
criteria provided, single submitter
18.
GRCh37:
Chr19:18979495
GRCh38:
Chr19:18868686
CERS1, GDF1P344SProgressive myoclonic epilepsy type 8, not providedUncertain significance
(Sep 1, 2021)
criteria provided, single submitter
19.
GRCh37:
Chr19:18979496
GRCh38:
Chr19:18868687
CERS1, GDF1not provided, Progressive myoclonic epilepsy type 8Likely benign
(Jul 10, 2018)
criteria provided, single submitter
20.
GRCh37:
Chr19:18979497
GRCh38:
Chr19:18868688
GDF1, CERS1S343Wnot providedUncertain significance
(Aug 31, 2021)
criteria provided, single submitter
21.
GRCh37:
Chr19:18979506
GRCh38:
Chr19:18868697
CERS1, GDF1A340Gnot providedUncertain significance
(Sep 1, 2021)
criteria provided, single submitter
22.
GRCh37:
Chr19:18979509
GRCh38:
Chr19:18868700
CERS1, GDF1P339LInborn genetic diseasesUncertain significance
(Aug 8, 2022)
criteria provided, single submitter
23.
GRCh37:
Chr19:18979509
GRCh38:
Chr19:18868700
CERS1, GDF1P339Hnot providedUncertain significance
(Aug 31, 2021)
criteria provided, single submitter
24.
GRCh37:
Chr19:18979524
GRCh38:
Chr19:18868715
CERS1, GDF1L334RInborn genetic diseasesUncertain significance
(Jan 27, 2022)
criteria provided, single submitter
25.
GRCh37:
Chr19:18979528
GRCh38:
Chr19:18868719
CERS1, GDF1D333NCongenital heart defects, multiple types, 6Uncertain significance
(Sep 10, 2018)
criteria provided, single submitter
26.
GRCh37:
Chr19:18979538
GRCh38:
Chr19:18868729
CERS1, GDF1not providedLikely benign
(Oct 13, 2022)
criteria provided, single submitter
27.
GRCh37:
Chr19:18979540
GRCh38:
Chr19:18868731
CERS1, GDF1P329Snot provided, Visceral heterotaxyUncertain significance
(Aug 13, 2021)
criteria provided, multiple submitters, no conflicts
28.
GRCh37:
Chr19:18979548
GRCh38:
Chr19:18868739
GDF1, CERS1A326GInborn genetic diseasesUncertain significance
(Jan 3, 2022)
criteria provided, single submitter
29.
GRCh37:
Chr19:18979573
GRCh38:
Chr19:18868764
CERS1, GDF1A318Tnot providedLikely pathogenic
(Feb 16, 2017)
criteria provided, single submitter
30.
GRCh37:
Chr19:18979600
GRCh38:
Chr19:18868791
CERS1, GDF1S309PVisceral heterotaxy, Progressive myoclonic epilepsy type 8Conflicting interpretations of pathogenicity
(Oct 15, 2020)
criteria provided, conflicting interpretations
31.
GRCh37:
Chr19:18979613
GRCh38:
Chr19:18868804
CERS1, GDF1not providedLikely benign
(Jul 6, 2022)
criteria provided, single submitter
32.
GRCh37:
Chr19:18979615-18979616
GRCh38:
Chr19:18868806-18868807
CERS1, GDF1V304fsnot providedLikely pathogenic
(Aug 1, 2020)
criteria provided, single submitter
33.
GRCh37:
Chr19:18979622
GRCh38:
Chr19:18868813
CERS1, GDF1not providedLikely benign
(Aug 10, 2022)
criteria provided, single submitter
34.
GRCh37:
Chr19:18979625
GRCh38:
Chr19:18868816
GDF1, CERS1not providedUncertain significance
(Aug 30, 2021)
criteria provided, single submitter
35.
GRCh37:
Chr19:18979634
GRCh38:
Chr19:18868825
CERS1, GDF1Q297Hnot providedUncertain significanceno assertion criteria provided
36.
GRCh37:
Chr19:18979636
GRCh38:
Chr19:18868827
CERS1, GDF1Q297*not providedPathogenic
(Aug 28, 2021)
criteria provided, single submitter
37.
GRCh37:
Chr19:18979642
GRCh38:
Chr19:18868833
CERS1, GDF1Y295Nnot provided, Visceral heterotaxyUncertain significance
(Sep 1, 2021)
criteria provided, single submitter
38.
GRCh37:
Chr19:18979647
GRCh38:
Chr19:18868838
CERS1, GDF1A293VInborn genetic diseasesUncertain significance
(Jun 18, 2021)
criteria provided, single submitter
39.
GRCh37:
Chr19:18979674
GRCh38:
Chr19:18868865
CERS1, GDF1W284*Congenital heart defects, multiple types, 6Likely pathogenic
(Apr 6, 2020)
criteria provided, single submitter
40.
GRCh37:
Chr19:18979695
GRCh38:
Chr19:18868886
CERS1, GDF1R277Hnot providedUncertain significance
(Aug 28, 2021)
criteria provided, single submitter
41.
GRCh37:
Chr19:18979711-18979738
GRCh38:
Chr19:18868902-18868929
CERS1, GDF1P263fsInborn genetic diseasesLikely pathogenic
(Dec 19, 2019)
criteria provided, single submitter
42.
GRCh37:
Chr19:18979713
GRCh38:
Chr19:18868904
CERS1, GDF1R271Pnot providedUncertain significance
(Aug 31, 2021)
criteria provided, single submitter
43.
GRCh37:
Chr19:18979724-18979749
GRCh38:
Chr19:18868915-18868940
GDF1, CERS1L259fsRight atrial isomerism, not providedLikely pathogenic
(Oct 6, 2022)
criteria provided, multiple submitters, no conflicts
44.
GRCh37:
Chr19:18979725
GRCh38:
Chr19:18868916
GDF1, CERS1C267YDouble outlet right ventriclePathogenic
(Nov 1, 2007)
no assertion criteria provided
45.
GRCh37:
Chr19:18979729
GRCh38:
Chr19:18868920
CERS1, GDF1A266Tnot providedUncertain significance
(Sep 1, 2021)
criteria provided, single submitter
46.
GRCh37:
Chr19:18979737
GRCh38:
Chr19:18868928
CERS1, GDF1P263Lnot provided, Visceral heterotaxyUncertain significance
(Aug 30, 2021)
criteria provided, single submitter
47.
GRCh37:
Chr19:18979745
GRCh38:
Chr19:18868936
CERS1, GDF1not providedUncertain significance
(Jul 9, 2015)
criteria provided, single submitter
48.
GRCh37:
Chr19:18979758
GRCh38:
Chr19:18868949
CERS1, GDF1E256Gnot providedUncertain significance
(Sep 27, 2022)
criteria provided, single submitter
49.
GRCh37:
Chr19:18979760
GRCh38:
Chr19:18868951
CERS1, GDF1not providedUncertain significance
(Aug 13, 2021)
criteria provided, single submitter
50.
GRCh37:
Chr19:18979764
GRCh38:
Chr19:18868955
CERS1, GDF1D254AInborn genetic diseasesUncertain significance
(Nov 30, 2021)
criteria provided, single submitter
51.
GRCh37:
Chr19:18979782-18979783
GRCh38:
Chr19:18868973-18868974
CERS1, GDF1L248fsnot providedPathogenic
(Aug 24, 2021)
criteria provided, single submitter
52.
GRCh37:
Chr19:18979784
GRCh38:
Chr19:18868975
CERS1, GDF1not providedLikely benign
(Aug 16, 2022)
criteria provided, single submitter
53.
GRCh37:
Chr19:18979787
GRCh38:
Chr19:18868978
GDF1, CERS1not providedLikely benign
(Oct 17, 2022)
criteria provided, single submitter
54.
GRCh37:
Chr19:18979839
GRCh38:
Chr19:18869030
GDF1, CERS1R229Pnot providedUncertain significance
(Feb 25, 2021)
criteria provided, single submitter
55.
GRCh37:
Chr19:18979844
GRCh38:
Chr19:18869035
CERS1, GDF1C227*Right atrial isomerism, not provided, Congenital heart defects, multiple types, 6
Pathogenic/Likely pathogenic
(Mar 10, 2023)
criteria provided, multiple submitters, no conflicts
56.
GRCh37:
Chr19:18979847-18979946
GRCh38:
Chr19:18869038-18869137
CERS1, GDF1V194fsnot providedLikely pathogenic
(Aug 6, 2021)
criteria provided, single submitter
57.
GRCh37:
Chr19:18979857-18979858
GRCh38:
Chr19:18869048-18869049
CERS1, GDF1A223fsnot providedPathogenic
(May 3, 2020)
criteria provided, single submitter
58.
GRCh37:
Chr19:18979864
GRCh38:
Chr19:18869055
GDF1, CERS1P221AInborn genetic diseasesUncertain significance
(Dec 21, 2022)
criteria provided, single submitter
59.
GRCh37:
Chr19:18979867
GRCh38:
Chr19:18869058
GDF1, CERS1R220Snot provided, Visceral heterotaxyUncertain significance
(Aug 23, 2022)
criteria provided, single submitter
60.
GRCh37:
Chr19:18979869-18979874
GRCh38:
Chr19:18869060-18869065
GDF1, CERS1not providedUncertain significance
(Dec 18, 2020)
criteria provided, single submitter
61.
GRCh37:
Chr19:18979872
GRCh38:
Chr19:18869063
CERS1, GDF1A218Enot providedUncertain significance
(Feb 12, 2022)
criteria provided, single submitter
62.
GRCh37:
Chr19:18979876
GRCh38:
Chr19:18869067
CERS1, GDF1L217Vnot provided, Congenital heart defects, multiple types, 6Uncertain significance
(Aug 30, 2021)
criteria provided, multiple submitters, no conflicts
63.
GRCh37:
Chr19:18979888
GRCh38:
Chr19:18869079
CERS1, GDF1L213Fnot providedUncertain significance
(Jul 19, 2022)
criteria provided, single submitter
64.
GRCh37:
Chr19:18979899
GRCh38:
Chr19:18869090
CERS1, GDF1W209*not providedPathogenic
(Feb 12, 2022)
criteria provided, single submitter
65.
GRCh37:
Chr19:18979917
GRCh38:
Chr19:18869108
GDF1, CERS1W203*Inborn genetic diseasesLikely pathogenic
(Apr 4, 2018)
criteria provided, single submitter
66.
GRCh37:
Chr19:18979926
GRCh38:
Chr19:18869117
CERS1, GDF1G200DCongenital heart defects, multiple types, 6, Right atrial isomerism, not provided,
Visceral heterotaxy
Uncertain significance
(Jul 5, 2022)
criteria provided, multiple submitters, no conflicts
67.
GRCh37:
Chr19:18979929
GRCh38:
Chr19:18869120
CERS1, GDF1L199Pnot provided, Right atrial isomerism, Congenital heart defects, multiple types, 6
Uncertain significance
(Dec 15, 2021)
criteria provided, multiple submitters, no conflicts
68.
GRCh37:
Chr19:18979938
GRCh38:
Chr19:18869129
CERS1, GDF1A196GInborn genetic diseasesUncertain significance
(Aug 2, 2022)
criteria provided, single submitter
69.
GRCh37:
Chr19:18979938-18979939
GRCh38:
Chr19:18869129-18869130
GDF1, CERS1A196fsVisceral heterotaxyPathogenic
(Nov 7, 2018)
criteria provided, single submitter
70.
GRCh37:
Chr19:18979943
GRCh38:
Chr19:18869134
CERS1, GDF1not providedLikely benign
(May 15, 2018)
criteria provided, single submitter
71.
GRCh37:
Chr19:18979953
GRCh38:
Chr19:18869144
GDF1, CERS1G191Anot providedUncertain significance
(Dec 6, 2020)
criteria provided, single submitter
72.
GRCh37:
Chr19:18979964
GRCh38:
Chr19:18869155
GDF1, CERS1not providedLikely benign
(Aug 7, 2022)
criteria provided, single submitter
73.
GRCh37:
Chr19:18979976
GRCh38:
Chr19:18869167
CERS1, GDF1not provided, Visceral heterotaxyLikely benign
(Oct 10, 2017)
criteria provided, single submitter
74.
GRCh37:
Chr19:18979988
GRCh38:
Chr19:18869179
CERS1, GDF1not providedLikely benign
(Jun 15, 2019)
criteria provided, single submitter
75.
GRCh37:
Chr19:18980008
GRCh38:
Chr19:18869199
CERS1, GDF1G173Snot providedUncertain significance
(Jun 23, 2022)
criteria provided, single submitter
76.
GRCh37:
Chr19:18980021
GRCh38:
Chr19:18869212
CERS1, GDF1Progressive myoclonic epilepsy type 8Likely benign
(Sep 9, 2021)
criteria provided, single submitter
77.
GRCh37:
Chr19:18980040
GRCh38:
Chr19:18869231
CERS1, GDF1G162DProgressive myoclonic epilepsy type 8, not providedConflicting interpretations of pathogenicity
(Jul 17, 2021)
criteria provided, conflicting interpretations
78.
GRCh37:
Chr19:18980049
GRCh38:
Chr19:18869240
CERS1, GDF1P159Lnot providedUncertain significance
(Aug 27, 2021)
criteria provided, single submitter
79.
GRCh37:
Chr19:18980054-18980055
GRCh38:
Chr19:18869245-18869246
CERS1, GDF1not provided, not specified, Visceral heterotaxy,
Progressive myoclonic epilepsy type 8
Benign
(Dec 18, 2021)
criteria provided, multiple submitters, no conflicts
80.
GRCh37:
Chr19:18980055-18980056
GRCh38:
Chr19:18869246-18869247
CERS1, GDF1not providedBenign
(Mar 3, 2015)
criteria provided, single submitter
81.
GRCh37:
Chr19:18980057
GRCh38:
Chr19:18869248
CERS1, GDF1not providedLikely benign
(Jul 5, 2022)
criteria provided, single submitter
82.
GRCh37:
Chr19:18980060
GRCh38:
Chr19:18869251
CERS1, GDF1not providedUncertain significance
(Sep 1, 2021)
criteria provided, single submitter
83.
GRCh37:
Chr19:18980067
GRCh38:
Chr19:18869258
CERS1, GDF1A153Vnot providedUncertain significance
(Aug 31, 2021)
criteria provided, single submitter
84.
GRCh37:
Chr19:18980094
GRCh38:
Chr19:18869285
GDF1, CERS1R144Pnot providedUncertain significance
(Jun 29, 2022)
criteria provided, single submitter
85.
GRCh37:
Chr19:18980107
GRCh38:
Chr19:18869298
CERS1, GDF1E140Qnot providedUncertain significance
(Sep 19, 2022)
criteria provided, single submitter
86.
GRCh37:
Chr19:18980113
GRCh38:
Chr19:18869304
CERS1, GDF1P138Tnot providedLikely benign
(Jul 23, 2020)
criteria provided, single submitter
87.
GRCh37:
Chr19:18980121
GRCh38:
Chr19:18869312
CERS1, GDF1A135VInborn genetic diseases, Progressive myoclonic epilepsy type 8Uncertain significance
(Dec 20, 2021)
criteria provided, multiple submitters, no conflicts
88.
GRCh37:
Chr19:18980124
GRCh38:
Chr19:18869315
CERS1, GDF1S134Wnot providedLikely pathogenic
(Mar 8, 2013)
criteria provided, single submitter
89.
GRCh37:
Chr19:18980137
GRCh38:
Chr19:18869328
CERS1, GDF1V130Inot specified, not providedBenign
(Oct 4, 2022)
criteria provided, multiple submitters, no conflicts
90.
GRCh37:
Chr19:18980145
GRCh38:
Chr19:18869336
CERS1, GDF1W127*Congenital heart defects, multiple types, 6Likely pathogenic
(Jun 12, 2020)
criteria provided, single submitter
91.
GRCh37:
Chr19:18980154
GRCh38:
Chr19:18869345
CERS1, GDF1C124Fnot providedLikely pathogenic
(Feb 7, 2017)
criteria provided, single submitter
92.
GRCh37:
Chr19:18980158
GRCh38:
Chr19:18869349
CERS1, GDF1H123Ynot providedUncertain significance
(Oct 1, 2019)
criteria provided, single submitter
93.
GRCh37:
Chr19:18980159
GRCh38:
Chr19:18869350
CERS1, GDF1not providedLikely benign
(Mar 24, 2021)
criteria provided, single submitter
94.
GRCh37:
Chr19:18980168
GRCh38:
Chr19:18869359
CERS1, GDF1not providedLikely benign
(Nov 1, 2022)
criteria provided, single submitter
95.
GRCh37:
Chr19:18980169
GRCh38:
Chr19:18869360
GDF1, CERS1S119Lnot providedUncertain significance
(Jun 20, 2022)
criteria provided, multiple submitters, no conflicts
96.
GRCh37:
Chr19:18980172
GRCh38:
Chr19:18869363
CERS1, GDF1A118Vnot specified, not providedBenign
(Nov 4, 2022)
criteria provided, multiple submitters, no conflicts
97.
GRCh37:
Chr19:18980186
GRCh38:
Chr19:18869377
CERS1, GDF1not providedLikely benign
(Sep 16, 2022)
criteria provided, multiple submitters, no conflicts
98.
GRCh37:
Chr19:18980195
GRCh38:
Chr19:18869386
GDF1, CERS1not provided, Visceral heterotaxyLikely benign
(Sep 7, 2022)
criteria provided, single submitter
99.
GRCh37:
Chr19:18980207
GRCh38:
Chr19:18869398
CERS1, GDF1not providedBenign
(Aug 16, 2022)
criteria provided, single submitter
100.
GRCh37:
Chr19:18980213
GRCh38:
Chr19:18869404
CERS1, GDF1not specified, not providedBenign
(Nov 4, 2022)
criteria provided, multiple submitters, no conflicts
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