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VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
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 casesPathogenic
(Mar 30, 2010)
no assertion criteria providedVCV000144406
2.
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 casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000059114
3.
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 casesPathogenic
(Dec 22, 2010)
no assertion criteria providedVCV000147522
4.
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 casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000057042
5.
GRCh37:
Chr19:18979423
GRCh38:
Chr19:18868614
GDF1, CERS1E368KEpilepsy, progressive myoclonic 8Uncertain significance
(Feb 3, 2020)
criteria provided, single submitterVCV001007022
6.
GRCh37:
Chr19:18979433-18979435
GRCh38:
Chr19:18868624-18868626
GDF1, CERS1M364delBilateral right-sidedness sequencePathogenic
(Apr 18, 2018)
no assertion criteria providedVCV000522570
7.
GRCh37:
Chr19:18979434
GRCh38:
Chr19:18868625
GDF1, CERS1M364TCongenital 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 interpretationsVCV000522571
8.
GRCh37:
Chr19:18979450
GRCh38:
Chr19:18868641
GDF1, CERS1R359WHeterotaxiaUncertain significance
(Jul 19, 2018)
criteria provided, single submitterVCV000660810
9.
GRCh37:
Chr19:18979473-18979474
GRCh38:
Chr19:18868664-18868665
GDF1, CERS1Epilepsy, progressive myoclonic 8Uncertain significance
(May 11, 2020)
criteria provided, single submitterVCV000998691
10.
GRCh37:
Chr19:18979475-18979478
GRCh38:
Chr19:18868666-18868669
GDF1, CERS1F349fsnot provided, HeterotaxiaPathogenic/Likely pathogenic
(May 3, 2020)
criteria provided, multiple submitters, no conflictsVCV000410641
11.
GRCh37:
Chr19:18979476-18979478
GRCh38:
Chr19:18868667-18868669
GDF1, CERS1F350delEpilepsy, progressive myoclonic 8, HeterotaxiaUncertain significance
(Jul 21, 2017)
criteria provided, single submitterVCV000471935
12.
GRCh37:
Chr19:18979487
GRCh38:
Chr19:18868678
GDF1, CERS1not providedLikely benign
(Apr 2, 2018)
criteria provided, single submitterVCV000705539
13.
GRCh37:
Chr19:18979495
GRCh38:
Chr19:18868686
GDF1, CERS1P344SHeterotaxia, Epilepsy, progressive myoclonic 8Uncertain significance
(Apr 23, 2020)
criteria provided, single submitterVCV000659753
14.
GRCh37:
Chr19:18979496
GRCh38:
Chr19:18868687
GDF1, CERS1not providedLikely benign
(Jul 10, 2018)
criteria provided, single submitterVCV000705802
15.
GRCh37:
Chr19:18979497
GRCh38:
Chr19:18868688
GDF1, CERS1S343WEpilepsy, progressive myoclonic 8Uncertain significance
(Aug 8, 2019)
criteria provided, single submitterVCV000959657
16.
GRCh37:
Chr19:18979528
GRCh38:
Chr19:18868719
GDF1, CERS1D333NTransposition of the great arteries, dextro-looped 3Uncertain significance
(Sep 10, 2018)
criteria provided, single submitterVCV001031988
17.
GRCh37:
Chr19:18979540
GRCh38:
Chr19:18868731
GDF1, CERS1P329SHeterotaxiaUncertain significance
(Jul 21, 2017)
criteria provided, single submitterVCV000471940
18.
GRCh37:
Chr19:18979573
GRCh38:
Chr19:18868764
GDF1, CERS1A318Tnot providedLikely pathogenic
(Feb 16, 2017)
criteria provided, single submitterVCV000418233
19.
GRCh37:
Chr19:18979600
GRCh38:
Chr19:18868791
GDF1, CERS1S309PEpilepsy, progressive myoclonic 8, HeterotaxiaConflicting interpretations of pathogenicity
(Nov 26, 2019)
criteria provided, conflicting interpretationsVCV000220404
20.
GRCh37:
Chr19:18979613
GRCh38:
Chr19:18868804
GDF1, CERS1HeterotaxiaLikely benign
(Dec 31, 2019)
criteria provided, single submitterVCV000471939
21.
GRCh37:
Chr19:18979615-18979616
GRCh38:
Chr19:18868806-18868807
GDF1, CERS1V304fsBilateral right-sidedness sequence, not providedLikely pathogenic
(Aug 1, 2020)
criteria provided, single submitterVCV000065389
22.
GRCh37:
Chr19:18979642
GRCh38:
Chr19:18868833
GDF1, CERS1Y295NHeterotaxia, Epilepsy, progressive myoclonic 8Uncertain significance
(Oct 25, 2017)
criteria provided, single submitterVCV000539304
23.
GRCh37:
Chr19:18979695
GRCh38:
Chr19:18868886
GDF1, CERS1R277HEpilepsy, progressive myoclonic 8Uncertain significance
(Jun 27, 2020)
criteria provided, single submitterVCV001001308
24.
GRCh37:
Chr19:18979711-18979738
GRCh38:
Chr19:18868902-18868929
GDF1, CERS1P263fsInborn genetic diseasesLikely pathogenic
(Dec 3, 2019)
criteria provided, single submitterVCV000985271
25.
GRCh37:
Chr19:18979713
GRCh38:
Chr19:18868904
GDF1, CERS1R271PHeterotaxiaUncertain significance
(Nov 7, 2019)
criteria provided, single submitterVCV000966764
26.
GRCh37:
Chr19:18979724-18979749
GRCh38:
Chr19:18868915-18868940
GDF1, CERS1L259fsnot providedLikely pathogenic
(Feb 13, 2017)
criteria provided, single submitterVCV000418232
27.
GRCh37:
Chr19:18979725
GRCh38:
Chr19:18868916
GDF1, CERS1C267YDouble outlet right ventriclePathogenic
(Nov 1, 2007)
no assertion criteria providedVCV000006748
28.
GRCh37:
Chr19:18979737
GRCh38:
Chr19:18868928
GDF1, CERS1P263LEpilepsy, progressive myoclonic 8, HeterotaxiaUncertain significance
(Jul 14, 2017)
criteria provided, single submitterVCV000471938
29.
GRCh37:
Chr19:18979745
GRCh38:
Chr19:18868936
GDF1, CERS1not providedUncertain significance
(Jul 9, 2015)
criteria provided, single submitterVCV000281627
30.
GRCh37:
Chr19:18979758
GRCh38:
Chr19:18868949
GDF1, CERS1E256GEpilepsy, progressive myoclonic 8Uncertain significance
(Oct 14, 2020)
criteria provided, single submitterVCV001045015
31.
GRCh37:
Chr19:18979844
GRCh38:
Chr19:18869035
GDF1, CERS1C227*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 interpretationsVCV000006747
32.
GRCh37:
Chr19:18979857-18979858
GRCh38:
Chr19:18869048-18869049
CERS1, GDF1A223fsnot providedPathogenic
(May 3, 2020)
criteria provided, single submitterVCV000915273
33.
GRCh37:
Chr19:18979867
GRCh38:
Chr19:18869058
GDF1, CERS1R220SEpilepsy, progressive myoclonic 8, HeterotaxiaUncertain significance
(Jan 19, 2017)
criteria provided, single submitterVCV000471937
34.
GRCh37:
Chr19:18979876
GRCh38:
Chr19:18869067
GDF1, CERS1L217VEpilepsy, progressive myoclonic 8, Transposition of the great arteries, dextro-looped 3Uncertain significance
(Jan 6, 2020)
criteria provided, multiple submitters, no conflictsVCV001010796
35.
GRCh37:
Chr19:18979917
GRCh38:
Chr19:18869108
GDF1, CERS1W203*Inborn genetic diseasesLikely pathogenic
(Apr 4, 2018)
criteria provided, single submitterVCV000985628
36.
GRCh37:
Chr19:18979926
GRCh38:
Chr19:18869117
GDF1, CERS1G200DHeterotaxiaUncertain significance
(Apr 4, 2016)
criteria provided, single submitterVCV000410639
37.
GRCh37:
Chr19:18979938-18979939
GRCh38:
Chr19:18869129-18869130
GDF1, CERS1A196fsHeterotaxiaPathogenic
(Nov 7, 2018)
criteria provided, single submitterVCV000665854
38.
GRCh37:
Chr19:18979943
GRCh38:
Chr19:18869134
GDF1, CERS1not providedLikely benign
(May 15, 2018)
criteria provided, single submitterVCV000704741
39.
GRCh37:
Chr19:18979976
GRCh38:
Chr19:18869167
GDF1, CERS1HeterotaxiaLikely benign
(Oct 10, 2017)
criteria provided, single submitterVCV000539305
40.
GRCh37:
Chr19:18979988
GRCh38:
Chr19:18869179
CERS1, GDF1HeterotaxiaLikely benign
(Dec 31, 2019)
criteria provided, single submitterVCV000416262
41.
GRCh37:
Chr19:18980040
GRCh38:
Chr19:18869231
GDF1, CERS1G162DTetralogy of Fallot, not provided, Heterotaxia
Conflicting interpretations of pathogenicity
(Dec 31, 2019)
criteria provided, conflicting interpretationsVCV000006749
42.
GRCh37:
Chr19:18980054-18980055
GRCh38:
Chr19:18869245-18869246
GDF1, CERS1not specified, Heterotaxia, Epilepsy, progressive myoclonic 8
Benign
(Dec 31, 2019)
criteria provided, multiple submitters, no conflictsVCV000215496
43.
GRCh37:
Chr19:18980067
GRCh38:
Chr19:18869258
GDF1, CERS1A153VEpilepsy, progressive myoclonic 8Uncertain significance
(Nov 30, 2019)
criteria provided, single submitterVCV000837752
44.
GRCh37:
Chr19:18980121
GRCh38:
Chr19:18869312
GDF1, CERS1A135VHeterotaxiaUncertain significance
(Sep 30, 2019)
criteria provided, single submitterVCV000410640
45.
GRCh37:
Chr19:18980124
GRCh38:
Chr19:18869315
GDF1, CERS1S134Wnot providedLikely pathogenic
(Mar 8, 2013)
criteria provided, single submitterVCV000418231
46.
GRCh37:
Chr19:18980137
GRCh38:
Chr19:18869328
GDF1, CERS1V130Inot specified, HeterotaxiaBenign
(Dec 31, 2019)
criteria provided, multiple submitters, no conflictsVCV000258161
47.
GRCh37:
Chr19:18980145
GRCh38:
Chr19:18869336
GDF1, CERS1W127*Transposition of the great arteries, dextro-looped 3Likely pathogenic
(Jun 12, 2020)
criteria provided, single submitterVCV000977094
48.
GRCh37:
Chr19:18980154
GRCh38:
Chr19:18869345
GDF1, CERS1C124Fnot providedLikely pathogenic
(Feb 7, 2017)
criteria provided, single submitterVCV000392938
49.
GRCh37:
Chr19:18980158
GRCh38:
Chr19:18869349
GDF1, CERS1H123Ynot providedUncertain significance
(Oct 1, 2019)
criteria provided, single submitterVCV000870880
50.
GRCh37:
Chr19:18980168
GRCh38:
Chr19:18869359
CERS1, GDF1HeterotaxiaLikely benign
(Dec 31, 2019)
criteria provided, single submitterVCV000695263
51.
GRCh37:
Chr19:18980172
GRCh38:
Chr19:18869363
GDF1, CERS1A118Vnot specified, HeterotaxiaBenign
(Dec 30, 2019)
criteria provided, multiple submitters, no conflictsVCV000258160
52.
GRCh37:
Chr19:18980195
GRCh38:
Chr19:18869386
GDF1, CERS1HeterotaxiaLikely benign
(Nov 27, 2017)
criteria provided, single submitterVCV000539306
53.
GRCh37:
Chr19:18980207
GRCh38:
Chr19:18869398
GDF1, CERS1HeterotaxiaBenign
(Dec 31, 2019)
criteria provided, single submitterVCV000539307
54.
GRCh37:
Chr19:18980213
GRCh38:
Chr19:18869404
GDF1, CERS1not specifiedBenign
(Mar 16, 2016)
criteria provided, multiple submitters, no conflictsVCV000198776
55.
GRCh37:
Chr19:18980772
GRCh38:
Chr19:18869963
GDF1, CERS1not specifiedBenign
(Aug 6, 2013)
criteria provided, multiple submitters, no conflictsVCV000137457
56.
GRCh37:
Chr19:18980828
GRCh38:
Chr19:18870019
GDF1, CERS1V97fsHeterotaxiaPathogenic
(Apr 30, 2019)
criteria provided, single submitterVCV000850258
57.
GRCh37:
Chr19:18980881
GRCh38:
Chr19:18870072
GDF1, CERS1R79QEpilepsy, progressive myoclonic 8Uncertain significance
(Aug 30, 2020)
criteria provided, single submitterVCV001041827
58.
GRCh37:
Chr19:18980914
GRCh38:
Chr19:18870105
GDF1, CERS1R68Hnot providedUncertain significance
(Sep 14, 2015)
criteria provided, single submitterVCV000282357
59.
GRCh37:
Chr19:18980921
GRCh38:
Chr19:18870112
GDF1, CERS1F66LEpilepsy, progressive myoclonic 8Uncertain significance
(Aug 6, 2020)
criteria provided, single submitterVCV000861589
60.
GRCh37:
Chr19:18980927
GRCh38:
Chr19:18870118
CERS1, GDF1R64CHeterotaxia, Epilepsy, progressive myoclonic 8Uncertain significance
(May 20, 2020)
criteria provided, single submitterVCV000410638
61.
GRCh37:
Chr19:18980928
GRCh38:
Chr19:18870119
GDF1, CERS1W63*HeterotaxiaLikely pathogenic
(Oct 11, 2018)
criteria provided, single submitterVCV000664346
62.
GRCh37:
Chr19:18980932
GRCh38:
Chr19:18870123
GDF1, CERS1M62THeterotaxiaUncertain significance
(Nov 7, 2018)
criteria provided, single submitterVCV000665856
63.
GRCh37:
Chr19:18980958
GRCh38:
Chr19:18870149
GDF1, CERS1HeterotaxiaLikely benign
(Dec 31, 2019)
criteria provided, single submitterVCV000539308
64.
GRCh37:
Chr19:18980964
GRCh38:
Chr19:18870155
GDF1, CERS1not providedLikely benign
(Nov 9, 2016)
criteria provided, single submitterVCV000416263
65.
GRCh37:
Chr19:18980980
GRCh38:
Chr19:18870171
GDF1, CERS1R46PTransposition of the great arteries, dextro-looped 3Uncertain significance
(Mar 20, 2019)
criteria provided, single submitterVCV000930879
66.
GRCh37:
Chr19:18980997
GRCh38:
Chr19:18870188
CERS1, GDF1HeterotaxiaLikely benign
(Dec 31, 2019)
criteria provided, single submitterVCV000471936
67.
GRCh37:
Chr19:18981037
GRCh38:
Chr19:18870228
GDF1, CERS1T27IHeterotaxiaUncertain significance
(Mar 28, 2018)
criteria provided, single submitterVCV000581534
68.
GRCh37:
Chr19:18981062
GRCh38:
Chr19:18870253
GDF1, CERS1L19Vnot specified, not provided, Heterotaxia
Conflicting interpretations of pathogenicity
(Dec 31, 2019)
criteria provided, conflicting interpretationsVCV000258162
69.
GRCh37:
Chr19:18981119
GRCh38:
Chr19:18870310
GDF1, CERS1not providedUncertain significance
(Aug 1, 2020)
criteria provided, single submitterVCV001013149
70.
GRCh37:
Chr19:18981127
GRCh38:
Chr19:18870318
GDF1, CERS1not specifiedLikely benigncriteria provided, single submitterVCV000258159
71.
GRCh37:
Chr19:18981421
GRCh38:
Chr19:18870612
GDF1, CERS1L340VEpilepsy, progressive myoclonic 8Uncertain significance
(Nov 2, 2020)
criteria provided, single submitterVCV000475367
72.
GRCh37:
Chr19:18981430
GRCh38:
Chr19:18870621
GDF1, CERS1Epilepsy, progressive myoclonic 8Uncertain significance
(Jan 22, 2020)
criteria provided, single submitterVCV000542131
73.
GRCh37:
Chr19:18989760
GRCh38:
Chr19:18878951
GDF1, CERS1S232I, S330IEpilepsy, progressive myoclonic 8Uncertain significance
(Dec 11, 2018)
criteria provided, single submitterVCV000642064
74.
GRCh37:
Chr19:18989787
GRCh38:
Chr19:18878978
GDF1, CERS1R306Q, R223Q, R321QEpilepsy, progressive myoclonic 8Uncertain significance
(May 26, 2020)
criteria provided, single submitterVCV001036000
75.
GRCh37:
Chr19:18989804
GRCh38:
Chr19:18878995
CERS1, GDF1H315Q, H217QEpilepsy, progressive myoclonic 8Uncertain significance
(May 18, 2019)
criteria provided, single submitterVCV000943499
76.
GRCh37:
Chr19:18989837
GRCh38:
Chr19:18879028
CERS1, GDF1Epilepsy, progressive myoclonic 8Likely benign
(Dec 31, 2019)
criteria provided, single submitterVCV000755559
77.
GRCh37:
Chr19:18989843
GRCh38:
Chr19:18879034
GDF1, CERS1Epilepsy, progressive myoclonic 8Likely benign
(May 17, 2017)
criteria provided, single submitterVCV000475379
78.
GRCh37:
Chr19:18989846
GRCh38:
Chr19:18879037
GDF1, CERS1Y203*, Y301*Epilepsy, progressive myoclonic 8Uncertain significance
(Sep 19, 2019)
criteria provided, single submitterVCV000956495
79.
GRCh37:
Chr19:18989851
GRCh38:
Chr19:18879042
GDF1, CERS1Epilepsy, progressive myoclonic 8Uncertain significance
(Jan 5, 2018)
criteria provided, single submitterVCV000542132
80.
GRCh37:
Chr19:18989859
GRCh38:
Chr19:18879050
GDF1, CERS1not specifiedBenign
(Jan 9, 2013)
criteria provided, single submitterVCV000137456
81.
GRCh37:
Chr19:18990042
GRCh38:
Chr19:18879233
GDF1, CERS1not providedLikely benign
(Feb 23, 2018)
criteria provided, single submitterVCV000717275
82.
GRCh37:
Chr19:18990052
GRCh38:
Chr19:18879243
GDF1, CERS1Epilepsy, progressive myoclonic 8Likely benign
(Dec 31, 2019)
criteria provided, single submitterVCV000475378
83.
GRCh37:
Chr19:18990074
GRCh38:
Chr19:18879265
GDF1, CERS1not providedLikely benign
(Dec 3, 2018)
criteria provided, single submitterVCV000796400
84.
GRCh37:
Chr19:18990093
GRCh38:
Chr19:18879284
GDF1, CERS1A286V, A188VEpilepsy, progressive myoclonic 8Uncertain significance
(Jul 24, 2020)
criteria provided, single submitterVCV000475377
85.
GRCh37:
Chr19:18990099
GRCh38:
Chr19:18879290
GDF1, CERS1F284S, F186SEpilepsy, progressive myoclonic 8Uncertain significance
(Aug 29, 2019)
criteria provided, single submitterVCV000576500
86.
GRCh37:
Chr19:18990114
GRCh38:
Chr19:18879305
GDF1, CERS1P181R, P279REpilepsy, progressive myoclonic 8Uncertain significance
(Feb 10, 2020)
criteria provided, single submitterVCV000663158
87.
GRCh37:
Chr19:18990115
GRCh38:
Chr19:18879306
GDF1, CERS1P181A, P279AEpilepsy, progressive myoclonic 8Uncertain significance
(Oct 1, 2020)
criteria provided, single submitterVCV001027071
88.
GRCh37:
Chr19:18990116
GRCh38:
Chr19:18879307
GDF1, CERS1Epilepsy, progressive myoclonic 8Likely benign
(Dec 5, 2017)
criteria provided, single submitterVCV000542134
89.
GRCh37:
Chr19:18990129
GRCh38:
Chr19:18879320
GDF1, CERS1T259M, T274M, T176MEpilepsy, progressive myoclonic 8Uncertain significance
(Jun 15, 2020)
criteria provided, single submitterVCV001036463
90.
GRCh37:
Chr19:18990132
GRCh38:
Chr19:18879323
GDF1, CERS1R175H, R273HEpilepsy, progressive myoclonic 8Uncertain significance
(Oct 5, 2020)
criteria provided, single submitterVCV001017566
91.
GRCh37:
Chr19:18990163
GRCh38:
Chr19:18879354
GDF1, CERS1V263I, V165IEpilepsy, progressive myoclonic 8Uncertain significance
(Dec 8, 2019)
criteria provided, single submitterVCV000475376
92.
GRCh37:
Chr19:18990171
GRCh38:
Chr19:18879362
GDF1, CERS1P260L, P162LEpilepsy, progressive myoclonic 8Uncertain significance
(Sep 20, 2019)
criteria provided, single submitterVCV000943251
93.
GRCh37:
Chr19:18990187
GRCh38:
Chr19:18879378
GDF1, CERS1R157C, R255CEpilepsy, progressive myoclonic 8Conflicting interpretations of pathogenicity
(Sep 15, 2020)
criteria provided, conflicting interpretationsVCV000801420
94.
GRCh37:
Chr19:18991074
GRCh38:
Chr19:18880265
GDF1, CERS1not providedLikely benign
(Oct 19, 2017)
criteria provided, single submitterVCV000712246
95.
GRCh37:
Chr19:18991093
GRCh38:
Chr19:18880284
GDF1, CERS1G248S, G150SEpilepsy, progressive myoclonic 8Uncertain significance
(Jun 1, 2018)
criteria provided, single submitterVCV000568282
96.
GRCh37:
Chr19:18991097
GRCh38:
Chr19:18880288
GDF1, CERS1S148R, S246REpilepsy, progressive myoclonic 8Uncertain significance
(Aug 20, 2020)
criteria provided, single submitterVCV001024152
97.
GRCh37:
Chr19:18991126
GRCh38:
Chr19:18880317
GDF1, CERS1A237T, A139T, A222TEpilepsy, progressive myoclonic 8Uncertain significance
(Oct 24, 2020)
criteria provided, single submitterVCV001046336
98.
GRCh37:
Chr19:18991127
GRCh38:
Chr19:18880318
GDF1, CERS1H236Q, H138QEpilepsy, progressive myoclonic 8Uncertain significance
(Mar 6, 2020)
criteria provided, single submitterVCV000542126
99.
GRCh37:
Chr19:18991134
GRCh38:
Chr19:18880325
GDF1, CERS1R136L, R234LEpilepsy, progressive myoclonic 8Uncertain significance
(Mar 17, 2020)
criteria provided, single submitterVCV001009837
100.
GRCh37:
Chr19:18991134
GRCh38:
Chr19:18880325
GDF1, CERS1R136Q, R234QEpilepsy, progressive myoclonic 8Uncertain significance
(Apr 8, 2019)
criteria provided, single submitterVCV000861075
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