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Items: 33

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr19:11338618-45129651
GRCh38:
Chr19:11227942-44626354
IFNL3, IFNL4, IGFLR1, IGSF23, LGALS7, LGALS7B, LGI4, LOC100507646, LOC101927151, LOC101927572, LOC101929124, LOC112543465, LOC116276515, LOC116286188, LRP3, MIR181D, NCCRP1, NDUFA13, PDCD5, PSENEN, PSG1, PSG11, RNASEH2A, SPTBN4, TRMT1, TRT-AGT1-3, YJU2B, ZNF234, ZNF235, ZNF253, ZNF254, ZNF257, ZNF260, ZNF283, ZNF284, ZNF285, ZNF30, ZBTB32, ZFP82, ZNF101, ZFP14, ZFP30, TYROBP, U2AF1L4, UBA2, UCA1, UNC13A, ZFP36, ZNF100, ZNF112, TSHZ3, TSPAN16, UBA52, SYNE4, TBCB, TDRD12, SSBP4, STX10, SUGP1, SUGP2, UPF1, TSSK6, TTC9B, SRRM5, SBSN, SCGB2B2, SHKBP1, SIPA1L3, SIRT2, SARS2, SIN3B, SUPT5H, SWSAP1, PSG2, PSG7, PSG8, PSG8-AS1, PSG9, PSMC4, PSMD8, PSG3, PSG4, PSG5, PSG6, SYCE2, SYCN, SYDE1, RPL18A, RPS16, PDE4C, PEPD, PGLS, PGLS-DT, PHLDB3, PIK3R2, PINLYP, PLAUR, PLD3, NXNL1, OCEL1, PGLYRP2, PGPEP1, PKN1, SAMD4B, NDUFB7, NR2C2AP, NR2F6, NUDT19, NWD1, MIR5695, MIR639, MIR5196, MIR5684, MIR23AHG, ODAD3, OR10H1, NUMBL, MIR23A, MIR24-2, LYL1, LYPD3, LYPD4, LYPD5, LSM4, LSR, MIR27A, MIR3188, MIR3189, MIR4323, MIR4530, LOC117038784, LOC117038785, LOC117038786, LOC117038788, LOC117038789, LOC117038787, LOC117038790, LOC117038791, LOC117038792, LOC117038793, LOC117038794, LOC117038795, LRRC25, LSM14A, LOC112543466, LOC112543467, LOC112543470, LOC112543471, LOC112543479, LOC112543483, LOC112543484, LOC112543485, LOC112543486, LOC112543487, LOC112543488, LOC112543489, LOC112543472, LOC112543473, LOC110120871, LOC110120872, LOC112543468, LOC112543469, LTBP4, LOC101930071, LOC102724908, LOC102724958, LOC102725254, LOC105372383, LOC105376917, LOC106783503, LOC108663985, LOC110120869, LOC110120870, LOC110120873, LOC110120875, LINC01531, LINC01532, LINC01233, LOC110120890, LOC110120927, LOC116286189, LOC117038783, LIN37, LINC00661, LINC00662, LINC00663, LINC00664, LINC00665, LINC00904, LINC00905, LINC00906, LINC01224, IL27RA, IRGC, IRGQ, ISYNA1, ITPKC, JAK3, IL12RB1, ILVBL, LINC01480, LINC01529, GRAMD1A, GRIK5, GSK3A, GTPBP3, INSL3, IQCN, GMIP, GNG14, GPATCH1, GPI, GPR42, HAMP, HAPLN4, HAUS5, HAUS8, HCST, HIPK4, HNRNPL, HNRNPUL1, HOMER3, HOMER3-AS1, HOOK2, HPN, HPN-AS1, HSH2D, HSPB6, IER2, IFI30, IFNL1, IFNL2, JUNB, JUND, KCNK6, KCNN1, KCNN4, KCTD15, KIRREL2, KLF1, KLF2, KLHL26, KMT2B, KRTDAP, KXD1, LEUTX, LGALS13, LGALS14, LGALS16, LGALS4, 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, LOC110120942, LOC110121458, LOC110121465, LOC110599575, LOC110599577, LOC110673974, LOC111365151, LOC111365153, LOC111365163, LOC111413028, LOC111501767, LOC111811970, LOC112543445, LOC112543446, LOC112543448, LOC112543452, LOC112543454, LOC112543455, LOC112543458, LOC112543459, LOC112543461, LOC112543462, LOC112543463, LOC112543464, LOC112552149, LOC112552150, LOC112552151, LOC112552152, LOC112552153, LOC112552154, LOC112552155, LOC112552156, LOC113939968, LOC113939969, LOC113939973, LOC116276503, LOC116276504, LOC116276505, LOC116276506, LOC116276507, LOC116276508, LOC116276509, LOC116276510, LOC116276511, LOC116276512, LOC116276513, LOC116276514, LOC117125585, LOC117125586, LOC117125587, LOC117125588, LOC117125589, LOC117125590, LOC117125591, LOC117125592, LOC117125593, LOC117125594, LOC117125595, LOC117125596, LOC117125597, LOC117125598, LOC284344, LOC284412, LOC644554, LOC648044, LOC728485, LOC729966, LPAR2, LRFN1, LRFN3, MAG, MAN2B1, MAP1S, MAP3K10, MAP4K1, MAP4K1-AS1, MAST1, MAST3, MAU2, MED26, MED29, MEF2B, MEGF8, MIA, MIA-RAB4B, MIR1199, MIR1270, MIR1470, MIR181C, MIR640, MIR641, MIR6515, MIR6719, MIR6794, MIR6795, MIR6796, MIR6797, MIR6887, MIR7974, MIR8077, MISP3, MPV17L2, MRI1, MRPL34, MRPS12, MVB12A, MYO9B, NACC1, NANOS3, NCAN, NFIX, NFKBIB, NFKBID, NIBAN3, NOTCH3, NPHS1, OR10H2, OR10H3, OR10H4, OR10H5, OR1I1, OR7A10, OR7A17, OR7A5, OR7C1, OR7C2, OVOL3, PAF1, PAFAH1B3, PAK4, PALM3, PBX4, PCAT19, PDCD2L, PLEKHF1, PLEKHG2, PLPPR2, PLVAP, PODNL1, POLR2I, POP4, POU2F2, POU2F2-AS1, PPP1R14A, PRDX2, PRG1, PRKACA, PRKCSH, PRODH2, PROSER3, PRR19, PRX, PTGER1, RAB3A, RAB3D, RAB4B, RAB4B-EGLN2, RAB8A, RABAC1, RAD23A, RASAL3, RASGRP4, RBM42, REX1BD, RFX1, RFXANK, RGL3, RGS9BP, RHPN2, RINL, RLN3, RPS19, RPSAP58, RTBDN, RYR1, SAMD1, SCN1B, SDHAF1, SELENOV, SERTAD1, SERTAD3, SERTAD3-AS1, SLC1A6, SLC25A42, SLC27A1, SLC35E1, SLC5A5, SLC7A10, SLC7A9, SMG9, SMIM7, SNORA104, SNORA118, SNORA68, SNORA68B, SNORD135, SNORD152, SNORD175, SNORD41, SNRPA, SPINT2, SPRED3, TECR, TEX101, TGFB1, THAP8, THEG5, THSD8, TIMM50, TM6SF2, TMEM145, TMEM147, TMEM147-AS1, TMEM161A, TMEM205, TMEM221, TMEM38A, TMEM59L, TMEM91, TNPO2, TPM4, TRI-TAT1-1, TRIR, UPK1A, UPK1A-AS1, UQCRFS1, UQCRFS1-DT, URI1, USE1, USF2, USHBP1, VSTM2B, VSTM2B-DT, WDR62, WDR83, WDR83OS, WDR87, WDR87BP, WDR88, WIZ, WTIP, XRCC1, YIF1B, YJEFN3, ZNF136, ZNF14, ZNF146, ZNF155, ZNF180, ZNF181, ZNF20, ZNF208, ZNF221, ZNF222, ZNF222-DT, ZNF223, ZNF224, ZNF225, ZNF226, ZNF227, ZNF229, ZNF230, ZNF230-DT, ZNF233, 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, 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.
GRCh38:
Chr19:41608672-44315856
SchizophreniaLikely pathogenic
(Mar 20, 2018)
criteria provided, single submitterVCV000545227
3.
GRCh37:
Chr19:43842383-44357315
GRCh38:
Chr19:43338231-43853163
See casesUncertain significance
(Aug 12, 2011)
criteria provided, single submitterVCV000060277
4.
GRCh37:
Chr19:44235760
GRCh38:
Chr19:43731608
SMG9not providedLikely benign
(Mar 6, 2018)
criteria provided, single submitterVCV000728078
5.
GRCh37:
Chr19:44237525
GRCh38:
Chr19:43733373
SMG9not providedBenign
(Dec 31, 2019)
criteria provided, single submitterVCV000713846
6.
GRCh37:
Chr19:44237566
GRCh38:
Chr19:43733414
SMG9L417FInborn genetic diseasesUncertain significance
(Jan 23, 2017)
criteria provided, single submitterVCV000520551
7.
GRCh37:
Chr19:44237811
GRCh38:
Chr19:43733659
SMG9Q393*Neurodevelopmental abnormalityPathogenic
(Jun 4, 2020)
no assertion criteria providedVCV000984562
8.
GRCh37:
Chr19:44237834
GRCh38:
Chr19:43733682
SMG9R385Qnot providedBenign
(Dec 31, 2019)
criteria provided, single submitterVCV000712249
9.
GRCh37:
Chr19:44238581
GRCh38:
Chr19:43734429
SMG9not providedLikely benign
(Dec 31, 2019)
criteria provided, single submitterVCV000727370
10.
GRCh37:
Chr19:44241797
GRCh38:
Chr19:43737645
SMG9H316RAutism spectrum disorderassociationno assertion criteria providedVCV000996706
11.
GRCh37:
Chr19:44241805
GRCh38:
Chr19:43737653
SMG9not providedLikely benign
(Apr 3, 2018)
criteria provided, single submitterVCV000738757
12.
GRCh37:
Chr19:44244286
GRCh38:
Chr19:43740134
SMG9not providedLikely benign
(Mar 29, 2018)
criteria provided, single submitterVCV000736194
13.
GRCh37:
Chr19:44248920
GRCh38:
Chr19:43744768
SMG9Brainstem dysplasia, Abnormal facial shape, Abnormality of cardiovascular system morphology,
Global developmental delay, Heart and brain malformation syndrome
Likely pathogenic
(Oct 13, 2014)
criteria provided, single submitterVCV000224498
14.
GRCh37:
Chr19:44248963
GRCh38:
Chr19:43744811
SMG9M221THeart and brain malformation syndromeUncertain significance
(Apr 8, 2020)
criteria provided, single submitterVCV001028630
15.
GRCh37:
Chr19:44249014-44249015
GRCh38:
Chr19:43744862-43744863
SMG9V204fsnot providedLikely pathogenic
(Oct 23, 2020)
criteria provided, single submitterVCV000987257
16.
GRCh37:
Chr19:44251587
GRCh38:
Chr19:43747435
SMG9not providedLikely benign
(Feb 13, 2018)
criteria provided, single submitterVCV000726162
17.
GRCh37:
Chr19:44251589
GRCh38:
Chr19:43747437
SMG9not providedBenign
(Dec 31, 2019)
criteria provided, single submitterVCV000769016
18.
GRCh37:
Chr19:44251661-44251662
GRCh38:
Chr19:43747509-43747510
SMG9P174fsBrainstem dysplasia, Abnormal facial shape, Abnormality of cardiovascular system morphology,
Global developmental delay, Heart and brain malformation syndrome
Likely pathogenic
(Mar 17, 2013)
criteria provided, single submitterVCV000224497
19.
GRCh37:
Chr19:44251840
GRCh38:
Chr19:43747688
SMG9not providedLikely benign
(Jun 5, 2018)
criteria provided, single submitterVCV000743147
20.
GRCh37:
Chr19:44251885
GRCh38:
Chr19:43747733
SMG9not providedLikely benign
(Dec 31, 2019)
criteria provided, single submitterVCV000799377
21.
GRCh37:
Chr19:44251894
GRCh38:
Chr19:43747742
SMG9not providedLikely benign
(Dec 31, 2019)
criteria provided, single submitterVCV000792191
22.
GRCh37:
Chr19:44251898
GRCh38:
Chr19:43747746
SMG9P126Lnot providedLikely benign
(May 18, 2018)
criteria provided, single submitterVCV000731372
23.
GRCh37:
Chr19:44251909
GRCh38:
Chr19:43747757
SMG9not providedLikely benign
(Aug 30, 2018)
criteria provided, single submitterVCV000742273
24.
GRCh37:
Chr19:44251921
GRCh38:
Chr19:43747769
SMG9not providedBenign
(Sep 19, 2018)
criteria provided, single submitterVCV000764887
25.
GRCh37:
Chr19:44251939
GRCh38:
Chr19:43747787
SMG9not providedLikely benign
(Mar 7, 2018)
criteria provided, single submitterVCV000735664
26.
GRCh37:
Chr19:44252054
GRCh38:
Chr19:43747902
SMG9not providedLikely benign
(Jun 23, 2018)
criteria provided, single submitterVCV000755327
27.
GRCh37:
Chr19:44252196
GRCh38:
Chr19:43748044
SMG9not providedBenign
(May 12, 2018)
criteria provided, single submitterVCV000727167
28.
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
29.
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
30.
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
31.
GRCh37:
Chr19:260912-58956888
APC2, APLP1, C19orf47, C19orf53, CD79A, COL5A3, COLGALT1, COMP, COPE, COQ8B, DMRTC2, FAM174C, FAM187B, FAM32A, FAM71E1, GCDH, HOMER3, KANK2, KANK3, KDM4B, KEAP1, KHSRP, KIRREL2, KCNC3, KCNJ14, KCNK6, KCNN1, KCNN4, KCTD15, KDELR1, HOOK2, HPN, ICAM1, ICAM3, ICAM4, GIPR, ICAM5, IER2, GEMIN7, GET3, GGN, HRC, HSD11B1L, HSD17B14, HSH2D, HSPB6, HSPBP1, FBN3, FBXO17, FAM98C, FBXL12, KASH5, KCNA7, GDF1, GDF15, GIPC1, GIPC3, DMWD, DNAAF3, DOHH, DOT1L, DPF1, DPP9, DPRX, DPY19L3, DUS3L, DUXA, GMFG, GMIP, DNAJB1, DNASE2, DNM2, CRTC1, CRX, CSNK1G2, COX6B1, COX6B2, COX7A1, CPAMD8, CPT1C, CRB3, DNMT1, DOCK6, FBXO27, FBXO46, FBXW9, FCHO1, FDX2, FAM71E2, FAM83E, CDC34, CDC37, CEACAM3, CEACAM4, CEACAM5, CEACAM6, CEACAM7, CEACAM8, C19orf73, C19orf81, CEACAM20, CEACAM21, FARSA, FBL, CREB3L3, C19orf54, C19orf67, C3, C5AR1, C5AR2, CA11, ARHGEF18, ARID3A, ARMC6, ARRDC2, ARRDC5, ASF1B, ASPDH, ATCAY, ATF5, CABP5, CACNA1A, C19orf71, C2CD4C, CRLF1, APOC1, APOC2, APOC4, ATG4D, ATP13A1, APOE, ARHGAP33, ARHGAP35, ARHGAP45, ARHGEF1, 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, 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, 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, CDC42EP5, CDKN2D, CEACAM1, CEACAM16, CEACAM18, CEACAM19, 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, 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, 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, FCAR, FCER2, FCGBP, FCGRT, 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, 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, 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, KIR2DL1, KIR2DL3, KIR2DL4, KIR2DS4, KIR3DL1, KIR3DL2, KIR3DL3, 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, LILRA4, LILRA5, LILRA6, LILRB1, LILRB2, LILRB3, 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, MBD3L3, MBD3L4, MBD3L5, MBOAT7, MCEMP1, MCOLN1, MED16, MED25, MED26, 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, NOSIP, NLRP2, NLRP4, NLRP5, NOTCH3, NOVA2, NLRP7, NLRP8, NLRP9, NMRK2, NOP53, 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, SIGLEC11, SIGLEC12, SIGLEC14, SIGLEC5, SIGLEC6, SIGLEC7, SIGLEC8, SIGLEC9, SIGLECL1, SIN3B, SIPA1L3, SIRT2, SIRT6, SIX5, SLC17A7, SLC1A5, SLC1A6, SLC25A23, SLC25A41, SLC25A42, SLC27A1, 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, SYMPK, SYNE4, SYNGR4, SYT3, SYT5, TARM1, TBC1D17, TBCB, TBXA2R, TCF3, TDRD12, TEAD2, TECR, TEX101, TEX45, TFPT, TGFB1, TGFBR3L, THAP8, THEG, THOP1, TICAM1, TIMM13, TIMM29, TIMM44, 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, TRIP10, TRIR, TRMT1, TRPM4, TRU-TCA1-1, TSEN34, TSHZ3, TSKS, TSPAN16, TSSK6, TTC9B, TTYH1, TUBB4A, TULP2, TYK2, TYROBP, U2AF1L4, U2AF2, UBA2, UBA52, UBE2S, UBL5, UBXN6, UCA1, UHRF1, UNC13A, UPF1, 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, ZBTB7A, ZC3H4, ZFP14, ZFP28, ZFP30, ZFP36, ZFP82, ZFR2, ZGLP1, ZIK1, ZIM2, ZIM2-AS1, ZIM3, ZNF100, ZNF101, ZNF112, ZNF114, ZNF121, ZNF132, ZNF134, ZNF135, ZNF136, ZNF14, ZNF146, ZNF154, ZNF155, 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, ZNF329, ZNF331, ZNF333, ZNF345, ZNF347, ZNF350, ZNF358, ZNF382, ZNF383, ZNF404, ZNF414, ZNF415, ZNF416, ZNF417, 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
See casesPathogenic
(Jul 14, 2015)
no assertion criteria providedVCV000443499
32.
GRCh37:
Chr19:260912-58956888