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Items: 51

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr19:11338618-45129651
GRCh38:
Chr19:11227942-44626354
ABHD8, ACP5, ACP7, 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, C19orf54, 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, 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, LIPE, LIPE-AS1, LOC100134317, LOC100379224, LOC100505585, LOC100505715, LOC100505851, LOC100507646, LOC101927151, 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, 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, PODNL1, POLR2I, POP4, POU2F2, POU2F2-AS1, PPP1R14A, PRDX2, PRG1, PRKACA, PRKCSH, PRODH2, PROSER3, PRR19, PRX, PSENEN, PSG1, PSG11, 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, RPSAP58, RTBDN, RYR1, SAMD1, SAMD4B, SARS2, SBSN, SCGB2B2, SCN1B, SDHAF1, SELENOV, SERTAD1, SERTAD3, SERTAD3-AS1, SHKBP1, SIN3B, SIPA1L3, SIRT2, SLC1A6, SLC25A42, SLC27A1, SLC35E1, SLC5A5, SLC7A10, SLC7A9, SMG9, SMIM7, SNORA104, SNORA118, SNORA68, SNORA68B, SNORD135, SNORD152, SNORD175, SNORD41, SNRPA, SPINT2, SPRED3, SPTBN4, SRRM5, SSBP4, STX10, SUGP1, SUGP2, 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, 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 providedVCV000144406
2.
GRCh37:
Chr19:30152765-38605363
GRCh38:
Chr19:29661858-38114723
LOC111413028, LOC112543483, LOC112543484, LOC112543485, LOC112543486, LOC112543487, LOC112543488, LOC116276513, LOC284412, LOC644554, LOC728485, LRFN3, LRP3, LSM14A, LSR, MAG, MIR5196, MIR6887, NFKBID, NPHS1, NUDT19, OVOL3, PDCD2L, PDCD5, PEPD, PLEKHF1, POLR2I, PRODH2, PROSER3, PSENEN, RBM42, RGS9BP, RHPN2, SBSN, SCGB2B2, SCN1B, SDHAF1, SIPA1L3, SLC7A10, SLC7A9, SNORA68B, SYNE4, TBCB, TDRD12, THAP8, THEG5, TMEM147, TMEM147-AS1, TRT-AGT1-3, TSHZ3, TYROBP, U2AF1L4, UBA2, UPK1A, UPK1A-AS1, URI1, USF2, WDR62, WDR87, WDR87BP, WDR88, WTIP, ZBTB32, ZFP14, ZFP30, ZFP82, ZNF146, ZNF181, ZNF260, ZNF30, ZNF30-AS1, ZNF302, ZNF345, ZNF382, ZNF383, ZNF420, ZNF461, ZNF507, ZNF527, ZNF529, ZNF529-AS1, ZNF536, ZNF540, ZNF565, ZNF566, ZNF566-AS1, ZNF567, ZNF567-DT, ZNF568, ZNF569, ZNF570, ZNF571, ZNF571-AS1, ZNF573, ZNF585A, ZNF585B, ZNF599, ZNF607, ZNF781, ZNF790, ZNF790-AS1, ZNF792, ZNF793, ZNF793-AS1, ZNF829, ZNF850, ZNF875, ALKBH6, ANKRD27, APLP1, ARHGAP33, ATP4A, C19orf12, CAPNS1, CCNE1, CD22, CEBPA, CEBPA-DT, CEBPG, CEP89, CHST8, CLIP3, COX6B1, COX7A1, DMKN, DPY19L3, DPY19L3-DT, ETV2, FAAP24, FAM187B, FFAR1, FFAR2, FFAR3, FXYD1, FXYD3, FXYD5, FXYD7, GAPDHS, GARRE1, GPATCH1, GPI, GPR42, GRAMD1A, HAMP, HAUS5, HCST, HPN, HPN-AS1, HSPB6, IGFLR1, KCTD15, KIRREL2, KMT2B, KRTDAP, LGI4, LIN37, LINC00665, LINC00904, LINC01529, LINC01531, LINC01533, LINC01535, LINC01766, LINC01782, LINC01791, LINC01801, LINC01834, LINC01838, LINC02841, LOC100134317, LOC101927572, LOC105372383, LOC110120869, LOC110120870, LOC110120871, LOC110120872, LOC110120873, LOC110120875, LOC110120890, LOC110120927, LOC110120942, LOC111365151, LOC111365153
See casesPathogenic
(Oct 20, 2010)
no assertion criteria providedVCV000146619
3.
GRCh37:
Chr19:30162231-38393630
GRCh38:
Chr19:29671324-37902990
ALKBH6, ANKRD27, APLP1, ARHGAP33, ATP4A, C19orf12, CAPNS1, CCNE1, CD22, CEBPA, CEBPA-DT, CEBPG, CEP89, CHST8, CLIP3, COX6B1, COX7A1, DMKN, DPY19L3, DPY19L3-DT, ETV2, FAAP24, FAM187B, FFAR1, FFAR2, FFAR3, FXYD1, FXYD3, FXYD5, FXYD7, GAPDHS, GARRE1, GPATCH1, GPI, GPR42, GRAMD1A, HAMP, HAUS5, HCST, HPN, HPN-AS1, HSPB6, IGFLR1, KCTD15, KIRREL2, KMT2B, KRTDAP, LGI4, LIN37, LINC00665, LINC00904, LINC01529, LINC01531, LINC01533, LINC01535, LINC01766, LINC01782, LINC01791, LINC01801, LINC01834, LINC01838, LINC02841, LOC100134317, LOC101927572, LOC105372383, LOC110120869, LOC110120870, LOC110120871, LOC110120872, LOC110120873, LOC110120875, LOC110120890, LOC110120927, LOC110120942, LOC111365151, LOC111365153, LOC111413028, LOC112543483, LOC112543484, LOC112543485, LOC112543486, LOC112543487, LOC112543488, LOC116276513, LOC284412, LOC644554, LOC728485, LRFN3, LRP3, LSM14A, LSR, MAG, MIR5196, MIR6887, NFKBID, NPHS1, NUDT19, OVOL3, PDCD2L, PDCD5, PEPD, PLEKHF1, POLR2I, PRODH2, PROSER3, PSENEN, RBM42, RGS9BP, RHPN2, SBSN, SCGB2B2, SCN1B, SDHAF1, SLC7A10, SLC7A9, SNORA68B, SYNE4, TBCB, TDRD12, THAP8, THEG5, TMEM147, TMEM147-AS1, TRT-AGT1-3, TSHZ3, TYROBP, U2AF1L4, UBA2, UPK1A, UPK1A-AS1, URI1, USF2, WDR62, WDR87, WDR87BP, WDR88, WTIP, ZBTB32, ZFP14, ZFP30, ZFP82, ZNF146, ZNF181, ZNF260, ZNF30, ZNF30-AS1, ZNF302, ZNF345, ZNF382, ZNF383, ZNF420, ZNF461, ZNF507, ZNF527, ZNF529, ZNF529-AS1, ZNF536, ZNF540, ZNF565, ZNF566, ZNF566-AS1, ZNF567, ZNF567-DT, ZNF568, ZNF569, ZNF570, ZNF571, ZNF571-AS1, ZNF573, ZNF585A, ZNF585B, ZNF599, ZNF607, ZNF781, ZNF790, ZNF790-AS1, ZNF792, ZNF793, ZNF793-AS1, ZNF829, ZNF850, ZNF875
See casesPathogenic
(Jan 30, 2010)
no assertion criteria providedVCV000147631
4.
GRCh37:
Chr19:36395259-36395260
GRCh38:
Chr19:35904357-35904358
HCST, TYROBPnot providedBenign
(Jan 7, 2020)
criteria provided, single submitterVCV001238245
5.
GRCh37:
Chr19:36395317
GRCh38:
Chr19:35904415
TYROBPPolycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000890876
6.
GRCh37:
Chr19:36395331
GRCh38:
Chr19:35904429
TYROBPPolycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1, not providedBenign/Likely benign
(Jul 19, 2020)
criteria provided, multiple submitters, no conflictsVCV000328888
7.
GRCh37:
Chr19:36395368
GRCh38:
Chr19:35904466
TYROBPPolycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000328889
8.
GRCh37:
Chr19:36395386
GRCh38:
Chr19:35904484
TYROBPPolycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000328890
9.
GRCh37:
Chr19:36395388
GRCh38:
Chr19:35904486
TYROBPPolycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1, not providedBenign/Likely benign
(Sep 23, 2018)
criteria provided, multiple submitters, no conflictsVCV000328891
10.
GRCh37:
Chr19:36395446
GRCh38:
Chr19:35904544
TYROBPPolycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1, not providedBenign
(Sep 23, 2018)
criteria provided, multiple submitters, no conflictsVCV000328892
11.
GRCh37:
Chr19:36395466
GRCh38:
Chr19:35904564
TYROBPPolycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000328893
12.
GRCh37:
Chr19:36395484
GRCh38:
Chr19:35904582
TYROBPP109L, P110L, P98L, P99Lnot providedLikely benignno assertion criteria providedVCV001205974
13.
GRCh37:
Chr19:36395563
GRCh38:
Chr19:35904661
TYROBPnot providedLikely benign
(Jan 9, 2020)
criteria provided, single submitterVCV001220182
14.
GRCh37:
Chr19:36395727
GRCh38:
Chr19:35904825
TYROBPnot providedBenign
(Nov 16, 2018)
criteria provided, single submitterVCV001287283
15.
GRCh37:
Chr19:36396785-36402026
GRCh38:
Chr19:35905883-35911124
TYROBPPolycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1Pathogenic
(Mar 12, 2015)
no assertion criteria providedVCV000192243
16.
GRCh37:
Chr19:36398134
GRCh38:
Chr19:35907232
TYROBPE76*, E77*, E87*, E88*Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1Likely pathogenicno assertion criteria providedVCV000056397
17.
GRCh37:
Chr19:36398158
GRCh38:
Chr19:35907256
TYROBPR80W, R79W, R69W, R68Wnot provided, not specifiedLikely benign
(Dec 31, 2019)
criteria provided, multiple submitters, no conflictsVCV000501065
18.
GRCh37:
Chr19:36398169
GRCh38:
Chr19:35907267
TYROBPPolycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000892112
19.
GRCh37:
Chr19:36398368
GRCh38:
Chr19:35907466
TYROBPR59Q, R70Qnot providedLikely benign
(Dec 31, 2019)
criteria provided, single submitterVCV000756638
20.
GRCh37:
Chr19:36398397
GRCh38:
Chr19:35907495
TYROBPPolycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000892113
21.
GRCh37:
Chr19:36398414
GRCh38:
Chr19:35907512
TYROBPV55L, V44LPolycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1, not provided, not specified
Benign
(Dec 20, 2018)
criteria provided, multiple submitters, no conflictsVCV000196360
22.
GRCh37:
Chr19:36398432
GRCh38:
Chr19:35907530
TYROBPG38R, G49RPolycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1Likely pathogenicno assertion criteria providedVCV000056396
23.
GRCh37:
Chr19:36398435
GRCh38:
Chr19:35907533
TYROBPM48V, M37Vnot providedUncertain significance
(Dec 29, 2016)
criteria provided, single submitterVCV000377100
24.
GRCh37:
Chr19:36398436
GRCh38:
Chr19:35907534
TYROBPM37fs, M48fsPolycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1Pathogenic/Likely pathogenic
(Mar 12, 2015)
no assertion criteria providedVCV000056395
25.
GRCh37:
Chr19:36398437
GRCh38:
Chr19:35907535
TYROBPV47A, V36APolycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1Uncertain significance
(Nov 14, 2017)
criteria provided, single submitterVCV000892114
26.
GRCh37:
Chr19:36398454
GRCh38:
Chr19:35907552
TYROBPPolycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1, not specified, not provided
Benign/Likely benign
(Dec 12, 2020)
criteria provided, multiple submitters, no conflictsVCV000328894
27.
GRCh37:
Chr19:36398458
GRCh38:
Chr19:35907556
TYROBPP40L, P29Lnot providedUncertain significance
(Jan 2, 2018)
criteria provided, single submitterVCV000595538
28.
GRCh37:
Chr19:36398461
GRCh38:
Chr19:35907559
TYROBPS28N, S39NPolycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1Likely pathogenicno assertion criteria providedVCV000056394
29.
GRCh37:
Chr19:36398465
GRCh38:
Chr19:35907563
TYROBPV27M, V38MPolycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1Uncertain significance
(Apr 27, 2017)
criteria provided, single submitterVCV000892115
30.
GRCh37:
Chr19:36398466
GRCh38:
Chr19:35907564
TYROBPPolycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1, not providedConflicting interpretations of pathogenicity
(Mar 29, 2018)
criteria provided, conflicting interpretationsVCV000737347
31.
GRCh37:
Chr19:36398561
GRCh38:
Chr19:35907659
TYROBPnot providedLikely benign
(Jan 29, 2019)
criteria provided, single submitterVCV001214384
32.
GRCh37:
Chr19:36398593
GRCh38:
Chr19:35907691
TYROBPnot providedBenign
(Sep 28, 2018)
criteria provided, single submitterVCV001251443
33.
GRCh37:
Chr19:36398622
GRCh38:
Chr19:35907720
TYROBPnot provided, Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1, not specified
Benign
(Dec 31, 2019)
criteria provided, multiple submitters, no conflictsVCV000328895
34.
GRCh37:
Chr19:36398632
GRCh38:
Chr19:35907730
TYROBPD32NDementia, Memory impairment, Frontotemporal cerebral atrophy,
Caudate atrophy, Action tremor, Bradykinesia,
Cerebral cortical atrophy, Cerebellar atrophy, Parkinsonism
Uncertain significance
(Dec 12, 2014)
criteria provided, single submitterVCV000374122
35.
GRCh37:
Chr19:36398658
GRCh38:
Chr19:35907756
TYROBPR23Hnot provided, Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1Benign
(Dec 31, 2019)
criteria provided, multiple submitters, no conflictsVCV000328896
36.
GRCh37:
Chr19:36398899
GRCh38:
Chr19:35907997
TYROBPnot providedBenign
(Aug 23, 2018)
criteria provided, single submitterVCV001288066
37.
GRCh37:
Chr19:36399085
GRCh38:
Chr19:35908183
TYROBPnot provided, Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1Conflicting interpretations of pathogenicity
(Nov 27, 2020)
criteria provided, conflicting interpretationsVCV000732760
38.
GRCh37:
Chr19:36399129
GRCh38:
Chr19:35908227
TYROBPM1TPolycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1Pathogenic
(Mar 12, 2015)
no assertion criteria providedVCV000005797
39.
GRCh37:
Chr19:36399164
GRCh38:
Chr19:35908262
TYROBPPolycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000328897
40.
GRCh37:
Chr19:36399180
GRCh38:
Chr19:35908278
TYROBPPolycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000328898
41.
GRCh37:
Chr19:36399233
GRCh38:
Chr19:35908331
TYROBPnot providedBenign
(Nov 16, 2018)
criteria provided, single submitterVCV001285726
42.
GRCh37:
Chr19:36399346
GRCh38:
Chr19:35908444
TYROBPnot providedBenign
(Nov 16, 2018)
criteria provided, single submitterVCV001275926
43.
GRCh37:
Chr19:28271106-49213832
APOC4, CEP89, CHST8, CIC, CKM, FKRP, KLC3, PLA2G4C, PLAUR, PLD3, SLC8A2, SMG9, ZNF114, ZNF146, ZSWIM9, ZNF235, ZNF260, ZNF283, ZNF221, ZNF222, ZNF223, ZNF224, ZNF225, ZNF226, ZNF227, ZNF155, ZNF180, ZNF181, SULT2B1, SUPT5H, SYCN, SPACA4, SPHK2, STRN4, SULT2A1, SNRPD2, SPINT2, SPRED3, ZNF230, ZNF233, ZNF234, ZNF229, PPP1R37, PPP5C, POU2F2, PLEKHG2, PNMA8A, PNMA8B, POLR1G, POLR2I, POP4, PPM1N, PPP1R13L, PPP1R14A, SNRPA, SPTBN4, SRRM5, PLEKHF1, LGALS7B, LGI4, LIG1, LIN37, LIPE, LSM14A, LSR, LTBP4, GAPDHS, GARRE1, GEMIN7, LGALS16, LGALS4, LGALS7, FUT2, FXYD1, FXYD3, FXYD5, FXYD7, LYPD3, COX7A1, CRX, CXCL17, CYP2A13, CLASRP, CLC, CLIP3, CLPTM1, CNFN, COQ8B, COX6B1, APOE, ARHGEF1, ATP1A3, ATP4A, B3GNT8, B9D2, BBC3, BCAM, ARHGAP33, ARHGAP35, AXL, FOSB, FOXA3, APOC2, ACP7, ACTN4, AKT2, ALKBH6, ANKRD27, AP2S1, APLP1, APOC1, BCKDHA, BCL3, BICRA, BLOC1S3, BLVRB, BSPH1, C19orf12, C19orf33, C19orf47, C19orf54, C5AR1, C5AR2, CA11, CABP5, CADM4, CALM3, CAPN12, CAPNS1, CARD8, CATSPERG, CBLC, CCDC61, CCDC8, CCDC9, CCDC97, CCNE1, CCNP, CD177, CD22, CD79A, CEACAM1, CEACAM16, CEACAM19, CEACAM20, CEACAM21, CEACAM3, CEACAM4, CEACAM5, CEACAM6, CEACAM7, CEACAM8, CEBPA, CEBPG, CYP2A6, CYP2A7, CYP2B6, CYP2F1, CYP2S1, CYTH2, DACT3, DBP, DEDD2, DHX34, DLL3, DMAC2, DMKN, DMPK, DMRTC2, DMWD, DPF1, DPY19L3, DYRK1B, ECH1, EGLN2, EHD2, EID2, EID2B, EIF3K, ELSPBP1, EML2, EMP3, ERCC1, ERCC2, ERF, ERICH4, ETHE1, ETV2, EXOC3L2, EXOSC5, FAAP24, FAM187B, FAM83E, FAM98C, FBL, FBXO17, FBXO27, FBXO46, FCGBP, FFAR1, FFAR2, FFAR3, GGN, GIPR, GMFG, GNG8, GPATCH1, GPI, GPR4, GPR42, GRAMD1A, GRIK5, GRIN2D, GRWD1, GSK3A, HAMP, HAUS5, HCST, HIF3A, HIPK4, HNRNPL, HNRNPUL1, HPN, HSPB6, IFNL1, IFNL2, IFNL3, IGFL1, IGFL2, IGFL3, IGFL4, IGFLR1, IGSF23, INAFM1, IRF2BP1, IRGC, IRGQ, ITPKC, KCNJ14, KCNK6, KCNN4, KCTD15, KDELR1, KIRREL2, KMT2B, KPTN, KRTDAP, LEUTX, LGALS13, LGALS14, LMTK3, LOC100507646, LOC400706, LRFN1, LRFN3, LRP3, LYPD4, LYPD5, MAG, MAP3K10, MAP4K1, MARK4, MED29, MEGF8, MEIS3, MIA, MRPS12, MYPOP, NANOS2, NAPA, NCCRP1, NECTIN2, NFKBIB, NFKBID, NKPD1, NOP53, NOVA2, NPAS1, NPHS1, NTN5, NUDT19, NUMBL, ODAD1, OPA3, OVOL3, PAF1, PAFAH1B3, PAK4, PDCD2L, PDCD5, PEPD, PGLYRP1, PHLDB3, PINLYP, PPP5D1, PRG1, PRKD2, PRODH2, PROSER3, PRR19, PRX, PSENEN, PSG1, PSG11, PSG2, PSG3, PSG4, PSG5, PSG6, PSG7, PSG8, PSG9, PSMC4, PSMD8, PTGIR, PVR, QPCTL, RAB4B, RABAC1, RASGRP4, RBM42, RELB, RGS9BP, RHPN2, RINL, RPL18, RPS16, RPS19, RSPH6A, RTN2, SHKBP1, RYR1, SAE1, SAMD4B, SARS2, SBSN, SCGB2B2, SCN1B, SDHAF1, SELENOV, SELENOW, SERTAD1, SERTAD3, SIPA1L3, SIRT2, SIX5, SLC1A5, SLC7A10, SLC7A9, SYMPK, SYNE4, SYNGR4, TBCB, TDRD12, TEX101, TGFB1, THAP8, TIMM50, TMEM143, TMEM145, TMEM147, TMEM160, TMEM91, TOMM40, TPRX1, TRAPPC6A, TRU-TCA1-1, TSHZ3, TTC9B, TYROBP, U2AF1L4, UBA2, UPK1A, UQCRFS1, URI1, USF2, VASP, VSTM2B, WDR62, WDR87, WDR88, WTIP, XRCC1, YIF1B, ZBTB32, ZC3H4, ZFP14, ZFP30, ZFP36, ZFP82, ZNF112, ZNF284, ZNF285, ZNF296, ZNF30, ZNF302, ZNF345, ZNF382, ZNF383, ZNF404, ZNF420, ZNF428, ZNF45, ZNF461, ZNF507, ZNF526, ZNF527, ZNF529, ZNF536, ZNF540, ZNF541, ZNF546, ZNF565, ZNF566, ZNF567, ZNF568, ZNF569, ZNF570, ZNF571, ZNF573, ZNF574, ZNF575, ZNF576, ZNF585A, ZNF585B, ZNF599, ZNF607, ZNF780A, ZNF780B, ZNF781, ZNF790, ZNF792, ZNF793, ZNF829, ZNF850, ZNF875
not providedPathogenic
(Oct 13, 2017)
no assertion criteria providedVCV000685025
44.
GRCh37:
Chr19:35111811-37744992
Generalized epilepsy with febrile seizures plus, type 1Pathogenic
(Nov 1, 2018)
criteria provided, single submitterVCV000625760
45.
GRCh37:
Chr19:260912-59097160
TECR, UBA2, UBA52, ZNF114, ZNF121, ZNF347, ZNF548, ZNF549, ZNF676, ZNF677, ZNF681, ZNF93, ZNF98, ZNF99, ZNRF4, ZSCAN1, ZSCAN18, ZSCAN22, ZSCAN4, ZSCAN5A, ZSCAN5B, ZSWIM4, ZSWIM9, ZNF726, ZNF728, ZNF729, ZNF730, ZNF708, ZNF682, ZNF69, ZNF699, ZNF700, ZNF701, ZNF709, ZNF71, ZNF714, ZNF552, ZNF558, ZNF554, ZNF555, ZNF550, ZNF551, ZNF556, ZNF557, ZNF559, ZNF559-ZNF177, ZNF560, ZNF414, ZNF415, ZNF416, ZNF350, ZNF358, ZNF417, ZNF418, ZNF426, ZNF419, ZNF420, ZNF382, ZNF383, ZNF404, ZNF14, ZNF132, ZNF146, ZNF154, ZNF155, ZNF160, ZNF17, ZNF134, ZNF135, ZNF136, UBE2M, UBE2S, UPK1A, UQCR11, UQCRFS1, UNC13A, UPF1, UBL5, UBXN6, UCA1, TEX101, TIMM44, TIMM50, TINCR, TJP3, TLE2, THOP1, TICAM1, TIMM13, TLE5, TLE6, TEX45, TIMM29, SYMPK, SYNE4, SYNGR4, SYT3, SYT5, TARM1, TBC1D17, TBCB, TBXA2R, TCF3, TDRD12, TEAD2, TFPT, TGFB1, TGFBR3L, THAP8, THEG, TM6SF2, TMC4, TMED1, TMEM143, TMEM145, TMEM147, TMEM150B, TMEM160, TMEM161A, TMEM190, TMEM205, TMEM221, TMEM238, TMEM259, TMEM38A, TMEM59L, TMEM86B, TMEM91, TMIGD2, TMPRSS9, TNFAIP8L1, TNFSF14, TNFSF9, TNNI3, TNNT1, TNPO2, TOMM40, TPGS1, TPM4, TPRX1, TRAPPC5, TRAPPC6A, TRIM28, TRIP10, TRIR, TRMT1, TRPM4, TRU-TCA1-1, TSEN34, TSHZ3, TSKS, TSPAN16, TSSK6, TTC9B, TTYH1, UHRF1, TUBB4A, TULP2, TYK2, TYROBP, U2AF1L4, U2AF2, URI1, USE1, USF2, USHBP1, USP29, VASP, VAV1, VMAC, VN1R1, VN1R2, VN1R4, VRK3, VSIG10L, VSTM1, VSTM2B, WDR18, WDR62, WDR83, WDR83OS, WDR87, WDR88, WIZ, WTIP, XAB2, XRCC1, YIF1B, YIPF2, YJEFN3, YJU2, YJU2B, ZBTB32, ZBTB45, ZBTB7A, ZC3H4, ZFP14, ZFP28, ZFP30, ZFP36, ZFP82, ZFR2, ZGLP1, ZIK1, ZIM2, ZIM2-AS1, ZIM3, ZNF100, ZNF101, ZNF112, ZNF175, ZNF177, ZNF180, ZNF181, ZNF20, ZNF208, ZNF211, ZNF221, ZNF222, ZNF223, ZNF224, ZNF225, ZNF226, ZNF227, ZNF229, ZNF230, ZNF233, ZNF234, ZNF235, ZNF253, ZNF254, ZNF256, ZNF257, ZNF260, ZNF264, ZNF266, ZNF274, ZNF28, ZNF283, ZNF284, ZNF285, ZNF296, ZNF30, ZNF302, ZNF304, ZNF317, ZNF320, ZNF324, ZNF324B, ZNF329, ZNF331, ZNF333, ZNF345, ZNF428, ZNF429, ZNF43, ZNF430, ZNF431, ZNF432, ZNF433, ZNF439, ZNF44, ZNF440, ZNF441, ZNF442, ZNF443, ZNF444, ZNF446, ZNF45, ZNF460, ZNF461, ZNF468, ZNF470, ZNF471, ZNF473, ZNF480, ZNF486, ZNF490, ZNF491, ZNF492, ZNF493, ZNF497, ZNF506, ZNF507, ZNF524, ZNF526, ZNF527, ZNF528, ZNF529, ZNF530, ZNF534, ZNF536, ZNF540, ZNF541, ZNF543, ZNF544, ZNF546, ZNF547, ZNF561, ZNF562, ZNF563, ZNF564, ZNF565, ZNF566, ZNF567, ZNF568, ZNF569, ZNF570, ZNF571, ZNF573, ZNF574, ZNF575, ZNF576, ZNF577, ZNF578, ZNF579, ZNF580, ZNF581, ZNF582, ZNF583, ZNF584, ZNF585A, ZNF585B, ZNF586, ZNF587, ZNF587B, ZNF599, ZNF600, ZNF606, ZNF607, ZNF610, ZNF611, ZNF613, ZNF614, ZNF615, ZNF616, ZNF625, ZNF626, ZNF627, ZNF628, ZNF649, ZNF653, ZNF665, ZNF667, ZNF671, ZNF675, ZNF737, ZNF749, ZNF761, ZNF763, ZNF765, ZNF766, ZNF77, ZNF772, ZNF773, ZNF776, ZNF780A, ZNF780B, ZNF781, ZNF784, ZNF787, ZNF790, ZNF791, ZNF792, ZNF793, ZNF799, ZNF8, ZNF805, ZNF808, ZNF813, ZNF814, ZNF816, ZNF816-ZNF321P, ZNF823, ZNF829, ZNF83, ZNF835, ZNF836, ZNF837, ZNF841, ZNF844, ZNF845, ZNF846, ZNF85, ZNF850, ZNF865, ZNF875, ZNF878, ZNF880, ZNF888, ZNF90, ZNF91, A1BG, ABCA7, ABHD17A, ABHD8, ACER1, ACP4, ACP5, ACP7, ACSBG2, ACTL9, ACTN4, ADAMTS10, ADAMTSL5, ADAT3, ADGRE1, ADGRE2, ADGRE3, ADGRE5, ADGRL1, ADM5, AKAP8, AKAP8L, AKT1S1, AKT2, ALDH16A1, ALKBH6, ALKBH7, AMH, ANGPTL4, ANGPTL6, ANGPTL8, ANKLE1, ANKRD24, ANKRD27, ANO8, AP1M1, AP1M2, AP2A1, AP2S1, AP3D1, APBA3, APC2, APLP1, APOC1, APOC2, APOC4, APOE, ARHGAP33, ARHGAP35, ARHGAP45, ARHGEF1, ARHGEF18, ARID3A, ARMC6, ARRDC2, ARRDC5, ASF1B, ASPDH, ATCAY, ATF5, ATG4D, ATP13A1, ATP1A3, ATP4A, ATP5F1D, ATP8B3, AURKC, AXL, AZU1, B3GNT3, B3GNT8, B9D2, BABAM1, BAX, BBC3, BCAM, BCAT2, BCKDHA, BCL2L12, BCL3, BEST2, BICRA, BLOC1S3, BLVRB, BORCS8, BRD4, BRME1, BRSK1, BSG, BSPH1, BST2, BTBD2, C19orf12, C19orf18, C19orf25, C19orf33, C19orf38, C19orf44, C19orf47, C19orf53, C19orf54, C19orf67, C19orf71, C19orf73, C19orf81, C2CD4C, C3, C5AR1, C5AR2, CA11, CABP5, CACNA1A, CACNG6, CACNG7, CACNG8, CACTIN, CADM4, CALM3, CALR, CALR3, CAMSAP3, CAPN12, CAPNS1, CAPS, CARD8, CARM1, CASP14, CATSPERD, CATSPERG, CBARP, CBLC, CC2D1A, CCDC105, CCDC106, CCDC124, CCDC159, CCDC61, CCDC8, CCDC9, CCDC97, CCL25, CCNE1, CCNP, CD177, CD209, CD22, CD320, CD33, CD37, CD70, CD79A, CDC34, CDC37, CDC42EP5, CDKN2D, CEACAM1, CEACAM16, CEACAM18, CEACAM19, CEACAM20, CEACAM21, CEACAM3, CEACAM4, CEACAM5, CEACAM6, CEACAM7, CEACAM8, CEBPA, CEBPG, CELF5, CEP89, CERS1, CERS4, CFD, CGB1, CGB2, CGB3, CGB5, CGB7, CGB8, CHAF1A, CHERP, CHMP2A, CHST8, CIB3, CIC, CILP2, CIRBP, CKM, CLASRP, CLC, CLDND2, CLEC11A, CLEC17A, CLEC4G, CLEC4M, CLIP3, CLPP, CLPTM1, CNFN, CNN1, CNN2, CNOT3, COL5A3, COLGALT1, COMP, COPE, COQ8B, COX6B1, COX6B2, COX7A1, CPAMD8, CPT1C, CRB3, CREB3L3, CRLF1, CRTC1, CRX, CSNK1G2, CTU1, CTXN1, CXCL17, CYP2A13, CYP2A6, CYP2A7, CYP2B6, CYP2F1, CYP2S1, CYP4F11, CYP4F12, CYP4F2, CYP4F22, CYP4F3, CYP4F8, CYTH2, DACT3, DAND5, DAPK3, DAZAP1, DBP, DCAF15, DDA1, DDX39A, DDX49, DEDD2, DENND1C, DHDH, DHPS, DHX34, DIRAS1, DKKL1, DLL3, DMAC2, DMKN, DMPK, DMRTC2, DMWD, DNAAF3, DNAJB1, DNASE2, DNM2, DNMT1, DOCK6, DOHH, DOT1L, DPF1, DPP9, DPRX, DPY19L3, DUS3L, DUXA, DYRK1B, EBI3, ECH1, ECSIT, EEF2, EFNA2, EGLN2, EHD2, EID2, EID2B, EIF3G, EIF3K, ELANE, ELAVL1, ELAVL3, ELL, ELOF1, ELSPBP1, EMC10, EML2, EMP3, EPHX3, EPN1, EPOR, EPS15L1, EPS8L1, ERCC1, ERCC2, ERF, ERICH4, ERVV-1, ERVV-2, ETFB, ETHE1, ETV2, EVI5L, EXOC3L2, EXOSC5, F2RL3, FAAP24, FAM174C, FAM187B, FAM32A, FAM71E1, FAM71E2, FAM83E, FAM98C, FARSA, FBL, FBN3, FBXL12, FBXO17, FBXO27, FBXO46, FBXW9, FCAR, FCER2, FCGBP, FCGRT, FCHO1, FDX2, FEM1A, FFAR1, FFAR2, FFAR3, FGF21, FGF22, FIZ1, FKBP8, FKRP, FLT3LG, FOSB, FOXA3, FPR1, FPR2, FPR3, FSD1, FSTL3, FTL, FUT1, FUT2, FUT3, FUT5, FUT6, FUZ, FXYD1, FXYD3, FXYD5, FXYD7, FZR1, GADD45B, GADD45GIP1, GALP, GAMT, GAPDHS, GARRE1, GATAD2A, GCDH, GDF1, GDF15, GEMIN7, GET3, GGN, GIPC1, GIPC3, GIPR, GMFG, GMIP, GNA11, GNA15, GNG7, GNG8, GP6, GPATCH1, GPI, GPR108, GPR32, GPR4, GPR42, GPX4, GRAMD1A, GRIK5, GRIN2D, GRIN3B, GRWD1, GSK3A, GTF2F1, GTPBP3, GYS1, GZMM, HAMP, HAPLN4, HAS1, HAUS5, HAUS8, HCN2, HCST, HIF3A, HIPK4, HMG20B, HNRNPL, HNRNPM, HNRNPUL1, HOMER3, HOOK2, HPN, HRC, HSD11B1L, HSD17B14, HSH2D, HSPB6, HSPBP1, ICAM1, ICAM3, ICAM4, ICAM5, IER2, IFI30, IFNL1, IFNL2, IFNL3, IGFL1, IGFL2, IGFL3, IGFL4, IGFLR1, IGLON5, IGSF23, IL11, IL12RB1, IL27RA, IL4I1, ILF3, ILVBL, INAFM1, INSL3, INSR, IQCN, IRF2BP1, IRF3, IRGC, IRGQ, ISOC2, ISYNA1, ITPKC, IZUMO1, IZUMO2, IZUMO4, JAK3, JOSD2, JSRP1, JUNB, JUND, KANK2, KANK3, KASH5, KCNA7, KCNC3, KCNJ14, KCNK6, KCNN1, KCNN4, KCTD15, KDELR1, KDM4B, KEAP1, KHSRP, KIR2DL1, KIR2DL3, KIR2DL4, KIR2DS4, KIR3DL1, KIR3DL2, KIR3DL3, KIRREL2, KISS1R, KLC3, KLF1, KLF16, KLF2, KLHL26, KLK1, KLK10, KLK11, KLK12, KLK13, KLK14, KLK15, KLK2, KLK3, KLK4, KLK5, KLK6, KLK7, KLK8, KLK9, KMT2B, KMT5C, KPTN, KRI1, KRTDAP, KXD1, LAIR1, LAIR2, LDLR, LENG1, LENG8, LENG9, LEUTX, LGALS13, LGALS14, LGALS16, LGALS4, LGALS7, LGALS7B, LGI4, LHB, LIG1, LILRA1, LILRA2, LILRA3, LIM2, LILRA4, LILRA5, LILRA6, LILRB1, LILRB2, LILRB3, LILRB4, LILRB5, LIN37, LIN7B, LINGO3, LIPE, LMNB2, LMTK3, LOC100507646, LOC400706, LONP1, LPAR2, LRFN1, LRFN3, LRG1, LRP3, LRRC25, LRRC4B, LRRC8E, LSM14A, LSM4, LSM7, LSR, LTBP4, LYL1, LYPD3, LYPD4, LYPD5, MADCAM1, MAG, MAMSTR, MAN2B1, MAP1S, MAP2K2, MAP2K7, MAP3K10, MAP4K1, MARCHF2, MARK4, MAST1, MAST3, MATK, MAU2, MBD3, MBD3L1, MBD3L2, MBD3L3, MBD3L4, MBD3L5, MED26, MBOAT7, MCEMP1, MCOLN1, MED16, MED25, MED29, MEF2B, MEGF8, MEIS3, MEX3D, MFSD12, MIA, MICOS13, MIDN, MIER2, MIR125A, MIR150, MIR181C, MIR1909, MIR199A1, MIR23A, MIR24-2, MIR27A, MIR371A, MIR372, MIR373, MIR519D, MIR520H, MIR99B, MIRLET7E, MISP, MKNK2, MLLT1, MOB3A, MPND, MPV17L2, MRI1, MRPL34, MRPL4, MRPL54, MRPS12, MUC16, MVB12A, MYADM, MYBPC2, MYDGF, MYH14, MYO1F, MYO9B, MYPOP, MZF1, NACC1, NANOS2, NANOS3, NAPA, NAPSA, NAT14, NCAN, NCCRP1, NCLN, NCR1, NDUFA11, NDUFA13, NDUFA3, NDUFA7, NDUFB7, NDUFS7, NECTIN2, NFIC, NFIX, NFKBIB, NFKBID, NIBAN3, NKG7, NKPD1, NLRP11, NLRP12, NLRP13, NLRP2, NLRP4, NLRP5, NLRP7, NLRP8, NLRP9, NMRK2, NOP53, NOSIP, NOTCH3, NOVA2, NPAS1, NPHS1, NR1H2, NR2C2AP, NR2F6, NRTN, NTF4, NTN5, NUCB1, NUDT19, NUMBL, NUP62, NWD1, NXNL1, OAZ1, OCEL1, ODAD1, ODAD3, ODF3L2, OLFM2, ONECUT3, OPA3, OR10H1, OR10H2, OR10H3, OR10H4, OR10H5, OR1I1, OR1M1, OR2Z1, OR7A10, OR7A17, OR7A5, OR7C1, OR7C2, OR7D2, OR7D4, OR7E24, OR7G1, OR7G2, OR7G3, OSCAR, OVOL3, P2RY11, PAF1, PAFAH1B3, PAK4, PALM, PALM3, PBX4, PCP2, PCSK4, PDCD2L, PDCD5, PDE4A, PDE4C, PEAK3, PEG3, PEPD, PET100, PEX11G, PGLS, PGLS-DT, PGLYRP1, PGLYRP2, PGPEP1, PHLDB3, PIAS4, PIH1D1, PIK3R2, PIN1, PINLYP, PIP5K1C, PKN1, PLA2G4C, PLAUR, PLD3, PLEKHA4, PLEKHF1, PLEKHG2, PLEKHJ1, PLIN3, PLIN4, PLIN5, PLK5, PLPP2, PLPPR3, PLVAP, PNKP, PNMA8A, PNMA8B, PNPLA6, PODNL1, POLD1, POLR1G, POLR2E, POLR2I, POLRMT, POP4, POU2F2, PPAN, PPAN-P2RY11, PPFIA3, PPM1N, PPP1R12C, PPP1R13L, PPP1R14A, PPP1R15A, PPP1R37, PPP2R1A, PPP5C, PPP5D1, PPP6R1, PRAM1, PRDX2, PRG1, PRKACA, PRKCG, PRKCSH, PRKD2, PRMT1, PRODH2, PROSER3, PRPF31, PRR12, PRR19, PRR22, PRRG2, PRSS57, PRTN3, PRX, PSENEN, PSG1, PSG11, PSG2, PSG3, PSG4, PSG5, PSG6, PSG7, PSG8, PSG9, PSMC4, PSMD8, PSPN, PTBP1, PTGER1, PTGIR, PTH2, PTOV1, PTOV1-AS2, PTPRH, PTPRS, PVR, PWWP3A, QPCTL, QTRT1, R3HDM4, RAB11B, RAB3A, RAB3D, RAB4B, RAB8A, RABAC1, RAD23A, RANBP3, RASAL3, RASGRP4, RASIP1, RAVER1, RAX2, RBM42, RCN3, RDH13, RDH8, REEP6, RELB, RETN, REX1BD, REXO1, RFPL4A, RFPL4AL1, RFX1, RFX2, RFXANK, RGL3, RGS9BP, RHPN2, RINL, RLN3, RNASEH2A, RNF126, RPL13A, RPL18, RPL18A, RPL28, RPL36, RPS11, RPS15, RPS16, RPS19, RPS28, RPS5, RPS9, RRAS, RSPH6A, RTBDN, RTN2, RUVBL2, RYR1, S1PR2, S1PR4, S1PR5, SAE1, SAFB, SAFB2, SAMD1, SAMD4B, SARS2, SBK2, SBNO2, SBSN, SCAF1, SCAMP4, SCGB2B2, SCN1B, SDHAF1, SELENOV, SELENOW, SEMA6B, SERTAD1, SERTAD3, SF3A2, SGTA, SH2D3A, SH3GL1, SHANK1, SHC2, SHD, SHFL, SHISA7, SHKBP1, SIGLEC10, SIGLEC11, SIGLEC12, SIGLEC14, SIGLEC5, SIGLEC6, SIGLEC7, SIGLEC8, SIGLEC9, SIGLECL1, SIN3B, SIPA1L3, SIRT2, SIRT6, SIX5, SLC17A7, SLC1A5, SLC1A6, SLC25A23, SLC25A41, SLC25A42, SLC27A1, SLC27A5, SLC35E1, SLC39A3, SLC44A2, SLC5A5, SLC6A16, SLC7A10, SLC7A9, SLC8A2, SMARCA4, SMG9, SMIM17, SMIM24, SMIM7, SNAPC2, SNRNP70, SNRPA, SNRPD2, SPACA4, SPC24, SPHK2, SPIB, SPINT2, SPPL2B, SPRED3, SPTBN4, SRRM5, SSBP4, SSC5D, STAP2, STK11, STRN4, STX10, STXBP2, SUGP1, SUGP2, SULT2A1, SULT2B1, SUPT5H, SWSAP1, SYCE2, SYCN, SYDE1
not providedPathogenic
(Jan 5, 2017)
no assertion criteria providedVCV000615808
46.
GRCh37:
Chr19:68029-59110290
ALKBH7, AMH, BRSK1, BSG, CDC34, CDC37, CPAMD8, ANGPTL4, ANGPTL6, BSPH1, BST2, BTBD2, CEACAM20, CEACAM21, CPT1C, DPY19L3, DUS3L, FCGBP, GPI, INSR, IQCN, KLK5, KLK6, KLK7, MBD3L3, MBD3L4, MBD3L5, NCLN, OR7D4, PRODH2, PROSER3, RFPL4AL1, SIGLEC10, SYCE2, SYCN, TSKS, TSPAN16, ZFP82, ZFR2, ZNF333, ZNF345, ZNF548, ZNF549, ZNF552, ZNF554, ZNF561, ZNF562, ZNF555, ZNF556, ZNF557, ZNF558, ZNF559, ZNF559-ZNF177, ZNF560, ZNF563, ZNF417, ZNF418, ZNF419, ZNF383, ZNF404, ZNF414, ZNF415, ZNF416, ZNF420, ZNF426, ZNF350, ZNF358, ZNF382, ZNF550, ZGLP1, ZNF154, ZNF155, ZNF121, ZNF132, ZNF146, ZIK1, ZNF114, ZNF134, ZNF135, ZNF136, ZNF14, ZNF551, TSSK6, UPF1, U2AF1L4, U2AF2, TTC9B, UBA2, UBA52, UBE2M, UBE2S, UBL5, UBXN6, UCA1, UHRF1, UNC13A, ZNF347, SYDE1, SYMPK, TEX101, TEX45, TICAM1, TIMM13, TIMM29, TIMM44, SYT3, SYT5, TDRD12, TEAD2, TECR, SLC17A7, SLC1A5, THOP1, SYNE4, SYNGR4, SIGLEC11, SIGLEC12, SLC1A6, SLC25A23, SLC25A41, SIGLEC14, SIN3B, SIPA1L3, RHPN2, RNASEH2A, RNF126, RPL13A, SIRT2, SIRT6, SIX5, RFX1, RFX2, RPL18, RPL18A, RINL, RLN3, RGL3, PSG2, PSG1, PSG11, PSG3, PSG4, RFXANK, RGS9BP, PRSS57, PRTN3, PSG5, PSG6, PSG7, PRX, PSENEN, PAF1, PAFAH1B3, OR7G1, OR7G2, PALM3, PBX4, OR7G3, OSCAR, OVOL3, P2RY11, PAK4, PALM, OR7E24, NLRP12, NFKBIB, NLRP13, NOVA2, NPAS1, NFIC, NFIX, NFKBID, NIBAN3, NKG7, NKPD1, NLRP11, MIER2, MIR125A, MIR150, MEX3D, MEF2B, MEGF8, MFSD12, MIA, MICOS13, MIDN, MED26, MED29, MEIS3, LGALS16, LGALS7, LGALS7B, LGI4, LHB, LIG1, LILRB3, LGALS4, KLK9, KLK8, IRGC, IRGQ, ISOC2, ISYNA1, ITPKC, IZUMO1, IZUMO2, IRF2BP1, IRF3, IZUMO4, HAMP, HAPLN4, GPR4, GPR42, GRAMD1A, GRIK5, GRIN2D, GZMM, GPR108, GPR32, HAS1, HAUS5, GPX4, FDX2, FEM1A, FFAR1, FGF21, FGF22, FIZ1, FKBP8, FCGRT, FCHO1, FKRP, FLT3LG, FOSB, FOXA3, FFAR2, FFAR3, EGLN2, EHD2, EID2, EID2B, EIF3G, DUXA, DYRK1B, EIF3K, EBI3, ECH1, ECSIT, EEF2, EFNA2, CXCL17, CYP2A13, CYP2A6, CRB3, CREB3L3, CYP2A7, CYP2B6, CTU1, CTXN1, CRLF1, CRTC1, CRX, CSNK1G2, CEACAM6, CEACAM3, CEBPA, CEBPG, CELF5, CEACAM7, CEACAM8, CEP89, CEACAM4, CEACAM5, C19orf12, C19orf67, C19orf71, C19orf18, C19orf25, C19orf33, C19orf38, C19orf54, C19orf73, C19orf81, C2CD4C, C3, C19orf44, C19orf47, C19orf53, APOC1, APOC2, ANO8, AP2S1, AP3D1, APBA3, APC2, APLP1, ANKRD27, AP2A1, AP1M1, AP1M2, ANGPTL8, ANKLE1, ANKRD24, A1BG, ABCA7, ABHD17A, ABHD8, ACER1, ACP4, ACP5, ACP7, ACSBG2, ACTL9, ACTN4, ADAMTS10, ADAMTSL5, ADAT3, ADGRE1, ADGRE2, ADGRE3, ADGRE5, ADGRL1, ADM5, AKAP8, AKAP8L, AKT1S1, AKT2, ALDH16A1, ALKBH6, APOC4, APOE, ARHGAP33, ARHGAP35, ARHGAP45, ARHGEF1, ARHGEF18, ARID3A, ARMC6, ARRDC2, ARRDC5, ASF1B, ASPDH, ATCAY, ATF5, ATG4D, ATP13A1, ATP1A3, ATP4A, ATP5F1D, ATP8B3, AURKC, AXL, AZU1, B3GNT3, B3GNT8, B9D2, BABAM1, BAX, BBC3, BCAM, BCAT2, BCKDHA, BCL2L12, BCL3, BEST2, BICRA, BLOC1S3, BLVRB, BORCS8, BRD4, BRME1, C5AR1, C5AR2, CA11, CABP5, CACNA1A, CACNG6, CACNG7, CACNG8, CACTIN, CADM4, CALM3, CALR, CALR3, CAMSAP3, CAPN12, CAPNS1, CAPS, CARD8, CARM1, CASP14, CATSPERD, CATSPERG, CBARP, CBLC, CC2D1A, CCDC105, CCDC106, CCDC124, CCDC159, CCDC61, CCDC8, CCDC9, CCDC97, CCL25, CCNE1, CCNP, CD177, CD209, CD22, CD320, CD33, CD37, CD70, CD79A, CDC42EP5, CDKN2D, CEACAM1, CEACAM16, CEACAM18, CEACAM19, CERS1, CERS4, CFD, CGB1, CGB2, CGB3, CGB5, CGB7, CGB8, CHAF1A, CHERP, CHMP2A, CHST8, CIB3, CIC, CILP2, CIRBP, CKM, CLASRP, CLC, CLDND2, CLEC11A, CLEC17A, CLEC4G, CLEC4M, CLIP3, CLPP, CLPTM1, CNFN, CNN1, CNN2, CNOT3, COL5A3, COLGALT1, COMP, COPE, COQ8B, COX6B1, COX6B2, COX7A1, CYP2F1, CYP2S1, CYP4F11, CYP4F12, CYP4F2, CYP4F22, CYP4F3, CYP4F8, CYTH2, DACT3, DAND5, DAPK3, DAZAP1, DBP, DCAF15, DDA1, DDX39A, DDX49, DEDD2, DENND1C, DHDH, DHPS, DHX34, DIRAS1, DKKL1, DLL3, DMAC2, DMKN, DMPK, DMRTC2, DMWD, DNAAF3, DNAJB1, DNASE2, DNM2, DNMT1, DOCK6, DOHH, DOT1L, DPF1, DPP9, DPRX, ELANE, ELAVL1, ELAVL3, ELL, ELOF1, ELSPBP1, EMC10, EML2, EMP3, EPHX3, EPN1, EPOR, EPS15L1, EPS8L1, ERCC1, ERCC2, ERF, ERICH4, ERVV-1, ERVV-2, ETFB, ETHE1, ETV2, EVI5L, EXOC3L2, EXOSC5, F2RL3, FAAP24, FAM174C, FAM187B, FAM32A, FAM71E1, FAM71E2, FAM83E, FAM98C, FARSA, FBL, FBN3, FBXL12, FBXO17, FBXO27, FBXO46, FBXW9, FCAR, FCER2, FPR1, FPR2, FPR3, FSD1, FSTL3, FTL, FUT1, FUT2, FUT3, FUT5, FUT6, FUZ, FXYD1, FXYD3, FXYD5, FXYD7, FZR1, GADD45B, GADD45GIP1, GALP, GAMT, GAPDHS, GARRE1, GATAD2A, GCDH, GDF1, GDF15, GEMIN7, GET3, GGN, GIPC1, GIPC3, GIPR, GMFG, GMIP, GNA11, GNA15, GNG7, GNG8, GP6, GPATCH1, GRIN3B, GRWD1, GSK3A, GTF2F1, GTPBP3, GYS1, HAUS8, HCN2, HCST, HIF3A, HIPK4, HMG20B, HNRNPL, HNRNPM, HNRNPUL1, HOMER3, HOOK2, HPN, HRC, HSD11B1L, HSD17B14, HSH2D, HSPB6, HSPBP1, ICAM1, ICAM3, ICAM4, ICAM5, IER2, IFI30, IFNL1, IFNL2, IFNL3, IGFL1, IGFL2, IGFL3, IGFL4, IGFLR1, IGLON5, IGSF23, IL11, IL12RB1, IL27RA, IL4I1, ILF3, ILVBL, INAFM1, INSL3, JAK3, JOSD2, JSRP1, JUNB, JUND, KANK2, KANK3, KASH5, KCNA7, KCNC3, KCNJ14, KCNK6, KCNN1, KCNN4, KCTD15, KDELR1, KDM4B, KEAP1, KHSRP, KIRREL2, KISS1R, KLC3, KLF1, KLF16, KIR2DL1, KIR2DL3, KIR2DL4, KIR2DS4, KIR3DL1, KIR3DL2, KIR3DL3, KLF2, KLHL26, KLK1, KLK10, KLK11, KLK12, KLK13, KLK14, KLK15, KLK2, KLK3, KLK4, KMT2B, KMT5C, KPTN, KRI1, KRTDAP, KXD1, LAIR1, LAIR2, LDLR, LGALS13, LGALS14, LENG1, LENG8, LENG9, LEUTX, LILRA1, LILRA2, LILRA3, LILRA4, LILRA5, LILRA6, LILRB1, LILRB2, LILRB4, LILRB5, LIM2, LIN37, LIN7B, LINGO3, LIPE, LMNB2, LMTK3, LOC100507646, LOC400706, LONP1, LPAR2, LRFN1, LRFN3, LRG1, LRP3, LRRC25, LRRC4B, LRRC8E, LSM14A, LSM4, LSM7, LSR, LTBP4, LYL1, LYPD3, LYPD4, LYPD5, MADCAM1, MAG, MAMSTR, MAN2B1, MAP1S, MAP2K2, MAP2K7, MAP3K10, MAP4K1, MARCHF2, MARK4, MAST1, MAST3, MATK, MAU2, MBD3, MBD3L1, MBD3L2, MBOAT7, MCEMP1, MCOLN1, MED16, MED25, MIR181C, MIR1909, MIR199A1, MIR23A, MIR24-2, MIR27A, MIR371A, MIR372, MIR373, MIR519D, MIR520H, MIR99B, MIRLET7E, MISP, MKNK2, MLLT1, MOB3A, MPND, MPV17L2, MRI1, MRPL34, MRPL4, MRPL54, MRPS12, MUC16, MVB12A, MYADM, MYBPC2, MYDGF, MYH14, MYO1F, MYO9B, MYPOP, MZF1, NACC1, NANOS2, NANOS3, NAPA, NAPSA, NAT14, NCAN, NCCRP1, NCR1, NDUFA11, NDUFA13, NDUFA3, NDUFA7, NDUFB7, NDUFS7, NECTIN2, NLRP2, NLRP4, NLRP5, NOSIP, NOTCH3, NLRP7, NLRP8, NLRP9, NMRK2, NOP53, NPHS1, NR1H2, NR2C2AP, NR2F6, NRTN, NTF4, NTN5, NUCB1, NUDT19, NUMBL, NUP62, NWD1, NXNL1, OAZ1, OCEL1, ODAD1, ODAD3, ODF3L2, OLFM2, ONECUT3, OPA3, OR10H1, OR10H2, OR10H3, OR10H4, OR10H5, OR1I1, OR1M1, OR2Z1, OR4F17, OR7A10, OR7A17, OR7A5, OR7C1, OR7C2, OR7D2, PCP2, PCSK4, PDCD2L, PDCD5, PDE4A, PDE4C, PEAK3, PEG3, PEPD, PET100, PEX11G, PGLS, PGLS-DT, PGLYRP1, PGLYRP2, PGPEP1, PHLDB3, PIAS4, PIH1D1, PIK3R2, PIN1, PINLYP, PIP5K1C, PKN1, PLA2G4C, PLAUR, PLD3, PLEKHA4, PLEKHF1, PLEKHG2, PLEKHJ1, PLIN3, PLIN4, PLIN5, PLK5, PLPP2, PLPPR3, PLVAP, PNKP, PNMA8A, PNMA8B, PNPLA6, PODNL1, POLD1, POLR1G, POLR2E, POLR2I, POLRMT, POP4, POU2F2, PPAN, PPAN-P2RY11, PPFIA3, PPM1N, PPP1R12C, PPP1R13L, PPP1R14A, PPP1R15A, PPP1R37, PPP2R1A, PPP5C, PPP5D1, PPP6R1, PRAM1, PRDX2, PRG1, PRKACA, PRKCG, PRKCSH, PRKD2, PRMT1, PRPF31, PRR12, PRR19, PRR22, PRRG2, PSG8, PSG9, PSMC4, PSMD8, PSPN, PTBP1, PTGER1, PTGIR, PTH2, PTOV1, PTOV1-AS2, PTPRH, PTPRS, PVR, PWWP3A, QPCTL, QTRT1, R3HDM4, RAB11B, RAB3A, RAB3D, RAB4B, RAB8A, RABAC1, RAD23A, RANBP3, RASAL3, RASGRP4, RASIP1, RAVER1, RAX2, RBM42, RCN3, RDH13, RDH8, REEP6, RELB, RETN, REX1BD, REXO1, RFPL4A, RPL28, RPL36, RPS11, RPS15, RPS16, RPS19, RPS28, RPS5, RPS9, RRAS, RSPH6A, RTBDN, RTN2, RUVBL2, RYR1, S1PR2, S1PR4, S1PR5, SAE1, SAFB, SAFB2, SAMD1, SAMD4B, SARS2, SBK2, SBNO2, SBSN, SCAF1, SCAMP4, SCGB2B2, SCN1B, SDHAF1, SELENOV, SELENOW, SEMA6B, SERTAD1, SERTAD3, SF3A2, SGTA, SH2D3A, SH3GL1, SHANK1, SHC2, SHD, SHFL, SHISA7, SHKBP1, SIGLEC5, SIGLEC6, SIGLEC7, SIGLEC8, SIGLEC9, SIGLECL1, SLC25A42, SLC27A1, SLC27A5, SLC35E1, SLC39A3, SLC44A2, SLC5A5, SLC6A16, SLC7A10, SLC7A9, SLC8A2, SMARCA4, SMG9, SMIM17, SMIM24, SMIM7, SNAPC2, SNRNP70, SNRPA, SNRPD2, SPACA4, SPC24, SPHK2, SPIB, SPINT2, SPPL2B, SPRED3, SPTBN4, SRRM5, SSBP4, SSC5D, STAP2, STK11, STRN4, STX10, STXBP2, SUGP1, SUGP2, SULT2A1, SULT2B1, SUPT5H, SWSAP1, TARM1, TBC1D17, TBCB, TBXA2R, TCF3, TFPT, TGFB1, TGFBR3L, THAP8, THEG, TIMM50, TINCR, TJP3, TLE2, TLE5, TLE6, TM6SF2, TMC4, TMED1, TMEM143, TMEM145, TMEM147, TMEM150B, TMEM160, TMEM161A, TMEM190, TMEM205, TMEM221, TMEM238, TMEM259, TMEM38A, TMEM59L, TMEM86B, TMEM91, TMIGD2, TMPRSS9, TNFAIP8L1, TNFSF14, TNFSF9, TNNI3, TNNT1, TNPO2, TOMM40, TPGS1, TPM4, TPRX1, TRAPPC5, TRAPPC6A, TRIM28, TRIP10, TRIR, TRMT1, TRPM4, TRU-TCA1-1, TSEN34, TSHZ3, TTYH1, TUBB4A, TULP2, TYK2, TYROBP, UPK1A, UQCR11, UQCRFS1, URI1, USE1, USF2, USHBP1, USP29, VASP, VAV1, VMAC, VN1R1, VN1R2, VN1R4, VRK3, VSIG10L, VSTM1, VSTM2B, WDR18, WDR62, WDR83, WDR83OS, WDR87, WDR88, WIZ, WTIP, XAB2, XRCC1, YIF1B, YIPF2, YJEFN3, YJU2, YJU2B, ZBTB32, ZBTB45, ZBTB7A, ZC3H4, ZFP14, ZFP28, ZFP30, ZFP36, ZIM2, ZIM2-AS1, ZIM3, ZNF100, ZNF101, ZNF112, ZNF160, ZNF17, ZNF175, ZNF177, ZNF180, ZNF181, ZNF20, ZNF208, ZNF211, ZNF221, ZNF222, ZNF223, ZNF224, ZNF225, ZNF226, ZNF227, ZNF229, ZNF230, ZNF233, ZNF234, ZNF235, ZNF253, ZNF254, ZNF256, ZNF257, ZNF260, ZNF264, ZNF266, ZNF274, ZNF28, ZNF283, ZNF284, ZNF285, ZNF296, ZNF30, ZNF302, ZNF304, ZNF317, ZNF320, ZNF324, ZNF324B, ZNF329, ZNF331, ZNF428, ZNF429, ZNF43, ZNF430, ZNF431, ZNF432, ZNF433, ZNF439, ZNF44, ZNF440, ZNF441, ZNF442, ZNF443, ZNF444, ZNF446, ZNF45, ZNF460, ZNF461, ZNF468, ZNF470, ZNF471, ZNF473, ZNF480, ZNF486, ZNF490, ZNF491, ZNF492, ZNF493, ZNF497, ZNF506, ZNF507, ZNF524, ZNF526, ZNF527, ZNF528, ZNF529, ZNF530, ZNF534, ZNF536, ZNF540, ZNF541, ZNF543, ZNF544, ZNF546, ZNF547, ZNF564, ZNF565, ZNF566, ZNF567, ZNF568, ZNF569, ZNF570, ZNF571, ZNF573, ZNF574, ZNF575, ZNF576, ZNF577, ZNF578, ZNF579, ZNF580, ZNF581, ZNF582, ZNF583, ZNF584, ZNF585A, ZNF585B, ZNF586, ZNF587, ZNF587B, ZNF599, ZNF600, ZNF606, ZNF607, ZNF610, ZNF611, ZNF613, ZNF614, ZNF615, ZNF616, ZNF625, ZNF626, ZNF627, ZNF628, ZNF649, ZNF653, ZNF665, ZNF667, ZNF671, ZNF675, ZNF676, ZNF677, ZNF681, ZNF682, ZNF69, ZNF699, ZNF700, ZNF701, ZNF708, ZNF709, ZNF71, ZNF714, ZNF726, ZNF728, ZNF729, ZNF730, ZNF737, ZNF749, ZNF761, ZNF763, ZNF765, ZNF766, ZNF77, ZNF772, ZNF773, ZNF776, ZNF780A, ZNF780B, ZNF781, ZNF784, ZNF787, ZNF790, ZNF791, ZNF792, ZNF793, ZNF799, ZNF8, ZNF805, ZNF808, ZNF813, ZNF814, ZNF816, ZNF816-ZNF321P, ZNF823, ZNF829, ZNF83, ZNF835, ZNF836, ZNF837, ZNF841, ZNF844, ZNF845, ZNF846, ZNF85, ZNF850, ZNF865, ZNF875, ZNF878, ZNF880, ZNF888, ZNF90, ZNF91, ZNF93, ZNF98, ZNF99, ZNRF4, ZSCAN1, ZSCAN18, ZSCAN22, ZSCAN4, ZSCAN5A, ZSCAN5B, ZSWIM4, ZSWIM9
not providedPathogenic
(Jan 1, 2013)
no assertion criteria providedVCV000615803
47.
GRCh37:
Chr19:260912-58956888
ZNF418, ZNF419, ZNF420, ZNF426, ZNF428, ZNF429, ZNF43, ZNF430, ZNF431, ZNF432, ZNF433, ZNF439, ZNF44, ZNF440, ZNF441, ZNF442, ZNF443, ZNF444, ZNF45, ZNF460, ZNF461, ZNF468, ZNF470, ZNF471, ZNF473, ZNF480, ZNF486, ZNF490, ZNF491, ZNF492, ZNF493, ZNF497, ZNF506, ZNF507, ZNF524, ZNF526, ZNF527, ZNF528, ZNF529, ZNF530, ZNF534, ZNF536, ZNF540, ZNF541, ZNF543, ZNF544, ZNF546, ZNF547, ZNF548, ZNF549, ZNF550, ZNF551, ZNF552, ZNF554, ZNF555, ZNF556, ZNF557, ZNF558, ZNF559, ZNF559-ZNF177, ZNF560, ZNF561, ZNF562, ZNF563, ZNF564, ZNF565, ZNF566, ZNF567, ZNF568, ZNF569, ZNF570, ZNF571, ZNF573, ZNF574, ZNF575, ZNF576, ZNF577, ZNF578, ZNF579, ZNF580, ZNF581, ZNF582, ZNF583, ZNF584, ZNF585A, ZNF585B, ZNF586, ZNF587, ZNF587B, ZNF599, ZNF600, ZNF606, ZNF607, ZNF610, ZNF611, ZNF613, ZNF614, ZNF615, ZNF616, ZNF625, ZNF626, ZNF627, ZNF628, ZNF649, ZNF653, ZNF665, ZNF667, ZNF671, ZNF675, ZNF676, ZNF677, ZNF681, ZNF682, ZNF69, ZNF699, ZNF700, ZNF701, ZNF708, ZNF709, ZNF71, ZNF714, ZNF726, ZNF728, ZNF729, ZNF730, ZNF737, ZNF749, ZNF761, ZNF763, ZNF765, ZNF766, ZNF77, ZNF772, ZNF773, ZNF776, ZNF780A, ZNF780B, ZNF781, ZNF784, ZNF787, ZNF790, ZNF791, ZNF792, ZNF793, ZNF799, ZNF8, ZNF805, ZNF808, ZNF813, ZNF814, ZNF816, ZNF816-ZNF321P, ZNF823, ZNF829, ZNF83, ZNF835, ZNF836, ZNF837, ZNF841, ZNF844, ZNF845, ZNF846, ZNF85, ZNF850, ZNF865, ZNF875, ZNF878, ZNF880, ZNF888, ZNF90, ZNF91, ZNF93, ZNF98, ZNF99, ZNRF4, ZSCAN1, ZSCAN18, ZSCAN22, ZSCAN4, ZSCAN5A, ZSCAN5B, ZSWIM4, ZSWIM9, A1BG, ABCA7, ABHD17A, ABHD8, ACER1, ACP4, ACP5, ACP7, ACSBG2, ACTL9, ACTN4, ADAMTS10, ADAMTSL5, ADAT3, ADGRE1, ADGRE2, ADGRE3, ADGRE5, ADGRL1, ADM5, AKAP8, AKAP8L, AKT1S1, AKT2, ALDH16A1, ALKBH6, ALKBH7, AMH, ANGPTL4, ANGPTL6, ANGPTL8, ANKLE1, ANKRD24, ANKRD27, ANO8, AP1M1, AP1M2, AP2A1, AP2S1, AP3D1, APBA3, APC2, APLP1, APOC1, APOC2, APOC4, APOE, ARHGAP33, ARHGAP35, ARHGAP45, ARHGEF1, ARHGEF18, ARID3A, ARMC6, ARRDC2, ARRDC5, ASF1B, ASPDH, ATCAY, ATF5, ATG4D, ATP13A1, ATP1A3, ATP4A, ATP5F1D, ATP8B3, AURKC, AXL, AZU1, B3GNT3, B3GNT8, B9D2, BABAM1, BAX, BBC3, BCAM, BCAT2, BCKDHA, BCL2L12, BCL3, BEST2, BICRA, BLOC1S3, BLVRB, BORCS8, BRD4, BRME1, BRSK1, BSG, BSPH1, BST2, BTBD2, C19orf12, C19orf18, C19orf25, C19orf33, C19orf38, C19orf44, C19orf47, C19orf53, C19orf54, C19orf67, C19orf71, C19orf73, C19orf81, C2CD4C, C3, C5AR1, C5AR2, CA11, CABP5, CACNA1A, CACNG6, CACNG7, CACNG8, CACTIN, CADM4, CALM3, CALR, CALR3, CAMSAP3, CAPN12, CAPNS1, CAPS, CARD8, CARM1, CASP14, CATSPERD, CATSPERG, CBARP, CBLC, CC2D1A, CCDC105, CCDC106, CCDC124, CCDC159, CCDC61, CCDC8, CCDC9, CCDC97, CCL25, CCNE1, CCNP, CD177, CD209, CD22, CD320, CD33, CD37, CD70, CD79A, CDC34, CDC37, CDC42EP5, CDKN2D, CEACAM1, CEACAM16, CEACAM18, CEACAM19, CEACAM20, CEACAM21, CEACAM3, CEACAM4, CEACAM5, CEACAM6, CEACAM7, CEACAM8, CEBPA, CEBPG, CELF5, CEP89, CERS1, CERS4, CFD, CGB1, CGB2, CGB3, CGB5, CGB7, CGB8, CHAF1A, CHERP, CHST8, CIB3, CIC, CILP2, CIRBP, CKM, CLASRP, CLC, CLDND2, CLEC11A, CLEC17A, CLEC4G, CLEC4M, CLIP3, CLPP, CLPTM1, CNFN, CNN1, CNN2, CNOT3, COL5A3, COLGALT1, COMP, COPE, COQ8B, COX6B1, COX6B2, COX7A1, CPAMD8, CPT1C, CRB3, CREB3L3, CRLF1, CRTC1, CRX, CSNK1G2, CTU1, CTXN1, CXCL17, CYP2A13, CYP2A6, CYP2A7, CYP2B6, CYP2F1, CYP2S1, CYP4F11, CYP4F12, CYP4F2, CYP4F22, CYP4F3, CYP4F8, CYTH2, DACT3, DAND5, DAPK3, DAZAP1, DBP, DCAF15, DDA1, DDX39A, DDX49, DEDD2, DENND1C, DHDH, DHPS, DHX34, DIRAS1, DKKL1, DLL3, DMAC2, DMKN, DMPK, DMRTC2, DMWD, DNAAF3, DNAJB1, DNASE2, DNM2, DNMT1, DOCK6, DOHH, DOT1L, DPF1, DPP9, DPRX, DPY19L3, DUS3L, DUXA, DYRK1B, EBI3, ECH1, ECSIT, EEF2, EFNA2, EGLN2, EHD2, EID2, EID2B, EIF3G, EIF3K, ELANE, ELAVL1, ELAVL3, ELL, ELOF1, ELSPBP1, EMC10, EML2, EMP3, EPHX3, EPN1, EPOR, EPS15L1, EPS8L1, ERCC1, ERCC2, ERF, ERICH4, ERVV-1, ERVV-2, ETFB, ETHE1, ETV2, EVI5L, EXOC3L2, EXOSC5, F2RL3, FAAP24, FAM174C, FAM187B, FAM32A, FAM71E1, FAM71E2, FAM83E, FAM98C, FARSA, FBL, FBN3, FBXL12, FBXO17, FBXO27, FBXO46, FBXW9, FCAR, FCER2, FCGBP, FCGRT, FCHO1, FDX2, FEM1A, FFAR1, FFAR2, FFAR3, FGF21, FGF22, FIZ1, FKBP8, FKRP, FLT3LG, FOSB, FOXA3, FPR1, FPR2, FPR3, FSD1, FSTL3, FTL, FUT1, FUT2, FUT3, FUT5, FUT6, FUZ, FXYD1, FXYD3, FXYD5, FXYD7, FZR1, GADD45B, GADD45GIP1, GALP, GAMT, GAPDHS, GARRE1, GATAD2A, GCDH, GDF1, GDF15, GEMIN7, GET3, GGN, GIPC1, GIPC3, GIPR, GMFG, GMIP, GNA11, GNA15, GNG7, GNG8, GP6, GPATCH1, GPI, GPR108, GPR32, GPR4, GPR42, GPX4, GRAMD1A, GRIK5, GRIN2D, GRIN3B, GRWD1, GSK3A, GTF2F1, GTPBP3, GYS1, GZMM, HAMP, HAPLN4, HAS1, HAUS5, HAUS8, HCN2, HCST, HIF3A, HIPK4, HMG20B, HNRNPL, HNRNPM, HNRNPUL1, HOMER3, HOOK2, HPN, HRC, HSD11B1L, HSD17B14, HSH2D, HSPB6, HSPBP1, ICAM1, ICAM3, ICAM4, ICAM5, IER2, IFI30, IFNL1, IFNL2, IFNL3, IGFL1, IGFL2, IGFL3, IGFL4, IGFLR1, IGLON5, IGSF23, IL11, IL12RB1, IL27RA, IL4I1, ILF3, ILVBL, INAFM1, INSL3, INSR, IQCN, IRF2BP1, IRF3, IRGC, IRGQ, ISOC2, ISYNA1, ITPKC, IZUMO1, IZUMO2, IZUMO4, JAK3, JOSD2, JSRP1, JUNB, JUND, KANK2, KANK3, KASH5, KCNA7, KCNC3, KCNJ14, KCNK6, KCNN1, KCNN4, KCTD15, KDELR1, KDM4B, KEAP1, KHSRP, KIRREL2, KISS1R, KLC3, KLF1, KLF16, KIR2DL1, KIR2DL3, KIR2DL4, KIR2DS4, KIR3DL1, KIR3DL2, KIR3DL3, KLF2, KLHL26, KLK1, KLK10, KLK11, KLK12, KLK13, KLK14, KLK15, KLK2, KLK3, KLK4, KLK5, KLK6, KLK7, KLK8, KLK9, KMT2B, KMT5C, KPTN, KRI1, KRTDAP, KXD1, LAIR1, LAIR2, LDLR, LENG1, LENG8, LENG9, LEUTX, LGALS13, LGALS14, LGALS16, LGALS4, LGALS7, LGALS7B, LGI4, LHB, LIG1, LILRA1, LILRA2, LILRA3, LIM2, LILRA4, LILRA5, LILRA6, LILRB1, LILRB2, LILRB3, LILRB4, LILRB5, LIN37, LIN7B, LINGO3, LIPE, LMNB2, LMTK3, LOC100507646, LOC400706, LONP1, LPAR2, LRFN1, LRFN3, LRG1, LRP3, LRRC25, LRRC4B, LRRC8E, LSM14A, LSM4, LSM7, LSR, LTBP4, LYL1, LYPD3, LYPD4, LYPD5, MADCAM1, MAG, MAMSTR, MAN2B1, MAP1S, MAP2K2, MAP2K7, MAP3K10, MAP4K1, MARCHF2, MARK4, MAST1, MAST3, MATK, MAU2, MBD3, MBD3L1, MBD3L2, MBD3L3, MBD3L4, MBD3L5, MED26, MBOAT7, MCEMP1, MCOLN1, MED16, MED25, MED29, MEF2B, MEGF8, MEIS3, MEX3D, MFSD12, MIA, MICOS13, MIDN, MIER2, MIR125A, MIR150, MIR181C, MIR1909, MIR199A1, MIR23A, MIR24-2, MIR27A, MIR371A, MIR372, MIR373, MIR519D, MIR520H, MIR99B, MIRLET7E, MISP, MKNK2, MLLT1, MOB3A, MPND, MPV17L2, MRI1, MRPL34, MRPL4, MRPL54, MRPS12, MUC16, MVB12A, MYADM, MYBPC2, MYDGF, MYH14, MYO1F, MYO9B, MYPOP, NACC1, NANOS2, NANOS3, NAPA, NAPSA, NAT14, NCAN, NCCRP1, NCLN, NCR1, NDUFA11, NDUFA13, NDUFA3, NDUFA7, NDUFB7, NDUFS7, NECTIN2, NFIC, NFIX, NFKBIB, NFKBID, NIBAN3, NKG7, NKPD1, NLRP11, NLRP12, NLRP13, NLRP2, NLRP4, NLRP5, NOSIP, NOTCH3, NLRP7, NLRP8, NLRP9, NMRK2, NOP53, NOVA2, NPAS1, NPHS1, NR1H2, NR2C2AP, NR2F6, NRTN, NTF4, NTN5, NUCB1, NUDT19, NUMBL, NUP62, NWD1, NXNL1, OAZ1, OCEL1, ODAD1, ODAD3, ODF3L2, OLFM2, ONECUT3, OPA3, OR10H1, OR10H2, OR10H3, OR10H4, OR10H5, OR1I1, OR1M1, OR2Z1, OR7A10, OR7A17, OR7A5, OR7C1, OR7C2, OR7D2, OR7D4, OR7E24, OR7G1, OR7G2, OR7G3, PAK4, OSCAR, OVOL3, P2RY11, PAF1, PAFAH1B3, PALM, PALM3, PBX4, PCP2, PCSK4, PDCD2L, PDCD5, PDE4A, PDE4C, PEAK3, PEG3, PEPD, PET100, PEX11G, PGLS, PGLS-DT, PGLYRP1, PGLYRP2, PGPEP1, PHLDB3, PIAS4, PIH1D1, PIK3R2, PIN1, PINLYP, PIP5K1C, PKN1, PLA2G4C, PLAUR, PLD3, PLEKHA4, PLEKHF1, PLEKHG2, PLEKHJ1, PLIN3, PLIN4, PLIN5, PLK5, PLPP2, PLPPR3, PLVAP, PNKP, PNMA8A, PNMA8B, PNPLA6, PODNL1, POLD1, POLR1G, POLR2E, POLR2I, POLRMT, POP4, POU2F2, PPAN, PPAN-P2RY11, PPFIA3, PPM1N, PPP1R12C, PPP1R13L, PPP1R14A, PPP1R15A, PPP1R37, PPP2R1A, PPP5C, PPP5D1, PPP6R1, PRAM1, PRDX2, PRG1, PRKACA, PRKCG, PRKCSH, PRKD2, PRMT1, PRODH2, PROSER3, PRPF31, PRR12, PRR19, PRR22, PRRG2, PRSS57, PRTN3, PRX, PSENEN, PSG1, PSG11, PSG2, PSG3, PSG4, PSG5, PSG6, PSG7, PSG8, PSG9, PSMC4, PSMD8, PSPN, PTBP1, PTGER1, PTGIR, PTH2, PTOV1, PTOV1-AS2, PTPRH, PTPRS, PVR, PWWP3A, QPCTL, QTRT1, R3HDM4, RAB11B, RAB3A, RAB3D, RAB4B, RAB8A, RABAC1, RAD23A, RANBP3, RASAL3, RASGRP4, RASIP1, RAVER1, RAX2, RBM42, RCN3, RDH13, RDH8, REEP6, RELB, RETN, REX1BD, REXO1, RFPL4A, RFPL4AL1, RFX1, RFX2, RFXANK, RGL3, RGS9BP, RHPN2, RINL, RLN3, RNASEH2A, RNF126, RPL13A, RPL18, RPL18A, RPL28, RPL36, RPS11, RPS15, RPS16, RPS19, RPS28, RPS5, RPS9, RRAS, RSPH6A, RTBDN, RTN2, RUVBL2, RYR1, S1PR2, S1PR4, S1PR5, SAE1, SAFB, SAFB2, SAMD1, SAMD4B, SARS2, SBK2, SBNO2, SBSN, SCAF1, SCAMP4, SCGB2B2, SCN1B, SDHAF1, SELENOV, SELENOW, SEMA6B, SERTAD1, SERTAD3, SF3A2, SGTA, SH2D3A, SH3GL1, SHANK1, SHC2, SHD, SHFL, SHISA7, SHKBP1, SIGLEC10,