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Items: 19

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
ACP5Spondyloenchondrodysplasia with immune dysregulationPathogenic
(Feb 1, 2011)
no assertion criteria provided
2.
GRCh37:
Chr19:11685970-11685972
GRCh38:
Chr19:11575155-11575157
ACP5Spondyloenchondrodysplasia with immune dysregulationPathogenic
(Feb 1, 2011)
no assertion criteria provided
3.
GRCh37:
Chr19:11685987
GRCh38:
Chr19:11575172
ACP5Spondyloenchondrodysplasia with immune dysregulationPathogenic
(May 2, 2016)
no assertion criteria provided
4.
GRCh37:
Chr19:11685989
GRCh38:
Chr19:11575174
ACP5not specifiedGMAF:0.00200(A)Benign
(May 1, 2015)
criteria provided, single submitter
5.
GRCh37:
Chr19:11686012
GRCh38:
Chr19:11575197
ACP5Spondyloenchondrodysplasia with immune dysregulationPathogenic
(Feb 1, 2011)
no assertion criteria provided
6.
GRCh37:
Chr19:11686013-11686031
GRCh38:
Chr19:11575198-11575216
ACP5Spondyloenchondrodysplasia with immune dysregulationPathogenic
(Feb 1, 2011)
no assertion criteria provided
7.
GRCh37:
Chr19:11687126
GRCh38:
Chr19:11576311
ACP5, ZNF627Spondyloenchondrodysplasia with immune dysregulationPathogenic
(Feb 1, 2011)
no assertion criteria provided
8.
GRCh37:
Chr19:11687191
GRCh38:
Chr19:11576376
ACP5, ZNF627Spondyloenchondrodysplasia with immune dysregulationPathogenic
(Feb 1, 2011)
no assertion criteria provided
9.
GRCh37:
Chr19:11687250
GRCh38:
Chr19:11576435
ACP5, ZNF627not providedUncertain significance
(Jan 26, 2015)
criteria provided, single submitter
10.
GRCh37:
Chr19:11687595
GRCh38:
Chr19:11576780
ACP5, ZNF627Spondyloenchondrodysplasia with immune dysregulationPathogenic
(Feb 1, 2011)
no assertion criteria provided
11.
GRCh37:
Chr19:11687654
GRCh38:
Chr19:11576839
ACP5, ZNF627Spondyloenchondrodysplasia with immune dysregulationPathogenic
(Feb 1, 2011)
no assertion criteria provided
12.
GRCh37:
Chr19:11688002
GRCh38:
Chr19:11577187
ACP5, ZNF627Spondyloenchondrodysplasia with immune dysregulationGMAF:0.00020(A)Pathogenic
(May 2, 2016)
no assertion criteria provided
13.
GRCh37:
Chr19:10430150-13888674
GRCh38:
Chr19:10319474-13777860
See casesPathogenic
(Oct 1, 2010)
no assertion criteria provided
14.
GRCh37:
Chr19:11635978-14265833
GRCh38:
Chr19:11525163-14155021
See casesPathogenic
(Dec 22, 2010)
no assertion criteria provided
15.
GRCh37:
Chr19:11338618-45129651
GRCh38:
Chr19:11227942-44626354
ACP5, ACTN4, AKT2, APLP1, ASNA1, ATP1A3, ATP4A, AXL, BCKDHA, CEACAM1, BLVRB, BST2, CACNA1A, CALR, CAPNS1, CCNE1, CD22, CD79A, ADGRE5, CEACAM5, CEBPA, CEBPG, CEACAM3, CEACAM7, CEACAM8, CEACAM4, TBCB, CLC, CNN1, COMP, COX6B1, COX7A1, NCAN, CYP2A6, CYP2A7, CYP2A13, CYP2B6, CYP2F1, DHPS, DNASE2, ECH1, MEGF8, ELAVL3, EPOR, NR2F6, ERF, FBL, ETV2, FARSA, GCDH, GDF1, GPI, FFAR1, FFAR3, GPR42, FFAR2, GRIK5, GSK3A, HNRNPL, HPN, DNAJB1, IL12RB1, INSL3, JAK3, JUNB, JUND, KCNN1, KCNN4, LGALS4, LGALS7, LIPE, LRP3, CYP4F3, LYL1, MAG, MAN2B1, BORCS8-MEF2B, RAB8A, MAP3K10, MYO9B, CEACAM6, NDUFB7, NFIX, NFKBIB, NOTCH3, NPHS1, PAFAH1B3, PDE4C, PEPD, PIK3R2, PLAUR, FXYD1, FXYD3, POLR2I, POU2F2, PRKACA, PKN1, PRKCSH, PSG1, PSG2, PSG3, PSG4, PSG5, PSG6, PSG7, PSG9, PSG11, PSMC4, PSMD8, PTGER1, RAB3A, RAD23A, UPF1, RFX1, RPL18A, MRPS12, RPS16, RPS19, RYR1, SCN1B, SLC1A6, SLC5A5, SNRPA, SUPT5H, PRDX2, TGFB1, TPM4, TYROBP, UBA52, UQCRFS1, USF2, XRCC1, ZFP36, ZNF14, ZNF708, ZNF20, ZNF43, ZNF45, ZNF69, ZNF221, ZNF85, ZNF90, ZNF91, ZNF99, ZNF222, ZNF136, ZNF146, ZNF155, ZNF180, ZNF208, ZNF223, ZNF224, ZNF225, ZNF226, ZNF227, ZNF112, ZNF229, ZNF230, ELL, MIA, DPF1, LTBP4, CYP4F2, RFXANK, STX10, URI1, FCGBP, AP1M1, F2RL3, ARHGEF1, PDCD5, DYRK1B, LPAR2, CRLF1, NUMBL, ZNF235, KCNK6, MED26, HOMER3, IL27RA, GDF15, TECR, ZNF254, GMFG, RAB3D, IER2, KIAA0355, ZNF536, KMT2B, UBA2, SUGP2, DDX39A, ZNF443, AKAP8, PAK4, B3GNT3, KLF2, TMEM147, IFI30, CHERP, RNASEH2A, RABAC1, SPINT2, KLF1, DLL3, CERS1, GIPC1, POP4, ZNF234, HCST, ILVBL, UPK1A, HNRNPUL1, SLC7A9, MAP4K1, CYP4F8, COPE, ZFP30, ZNF507, ADGRL1, SIRT2, CYP2G1P, MAST1, UNC13A, MAST3, SIPA1L3, FCHO1, CIC, SIN3B, HAUS5, CRTC1, MAU2, ETHE1, BRD4, PRG1, CASP14, PLD3, FKBP8, TMEM59L, PGLS, LSM4, ZNF345, CLIP3, FAM32A, LSM14A, GAPDHS, OR7A17, TSPAN16, OR10H3, OR10H2, OR10H1, OR7C2, OR7A5, OR7C1, SNORA68, SNORD41, ZNF285, AKAP8L, ZBTB32, LYPD3, ARRDC2, CPAMD8, EIF3K, C19orf53, BABAM1, LGALS13, CYP2S1, HOOK2, SERTAD3, SERTAD1, TNPO2, ADGRE2, NDUFA13, ZNF571, GMIP, ECSIT, WDR83OS, ISYNA1, LSR, ZNF44, TM6SF2, FXYD7, FXYD5, RAB4B, DDX49, PAF1, GATAD2A, BEST2, PGPEP1, CC2D1A, TMEM161A, SARS2, C19orf60, GPATCH1, SAMD4B, ATP5SL, MAP1S, KLHL26, ZNF823, MED29, TRMT1, ASF1B, USE1, PSENEN, ZNF302, ANGPTL8, LIN37, SMG9, ZNF253, IRGC, SLC7A10, LGALS14, EXOSC5, CD177, ATP13A1, RGL3, ZNF490, DOCK6, ZNF492, TSHZ3, LRFN1, GRAMD1A, ZFP14, ZNF529, PRX, ANO8, SPTBN4, SUGP1, HAMP, CATSPERG, CYP4F11, PRODH2, EPS15L1, WIZ, DMRTC2, C19orf33, CHST8, PLPPR2, ZNF574, PLEKHG2, RASAL3, MRPL34, ZSWIM4, CYP4F12, C19orf43, DDA1, KXD1, TMEM38A, KCTD15, SMIM7, PLEKHF1, RBM42, C19orf57, ZNF576, LRFN3, ABHD8, OCEL1, COLGALT1, IGFLR1, EPHX3, PODNL1, ADCK4, CNTD2, SLC35E1, ZNF442, CEBPA-AS1, ZNF430, ITPKC, PBX4, KIAA1683, B9D2, CCDC130, ZNF93, PLVAP, RTBDN, C19orf12, TEX101, USHBP1, WDR87, TSSK6, KIRREL2, ANKRD27, C19orf44, MRI1, FBXW9, WDR83, PDCD2L, ELOF1, ZNF333, ZNF527, CNFN, ADGRE3, GTPBP3, MPV17L2, ZNF607, NFKBID, CEP89, ZNF382, ZNF566, HSH2D, ALKBH6, SYDE1, RHPN2, ZNF30, CEACAM21, CCDC97, SAMD1, DCAF15, GADD45GIP1, YIF1B, ZNF799, ZNF625, ZNF700, ZNF439, ZNF486, ZNF682, FAAP24, TDRD12, ZNF461, ZNF585B, TIMM50, SHKBP1, DMKN, HAUS8, MVB12A, ARMC6, ZNF101, PPP1R14A, EGLN2, NACC1, LOC113230, ZNF257, PGLYRP2, CCDC124, FBXO17, ARHGAP33, RASGRP4, NXNL1, CCDC151, ZNF653, ZNF526, CIB3, RLN3, CEACAM20, CALR3, ZNF441, ZNF491, ZNF440, SWSAP1, CCDC159, ZNF573, WDR88, EID2B, IRGQ, ZNF428, LRRC25, OR1I1, WTIP, ZNF792, NR2C2AP, HSPB6, CCDC105, CYP4F22, RINL, FBXO27, C19orf47, LINC00661, OR10H4, ANKLE1, IGSF23, LYPD4, HIPK4, ZNF563, ZNF420, ZNF565, FAM98C, CAPN12, DPY19L3, LGALS16, TTC9B, ZNF599, FAM187B, CILP2, PROSER3, LINC00906, LINC00662, ZNF98, ZNF714, ZNF681, LINC00905, ZNF569, ZNF570, DEDD2, ZNF791, ZNF564, ZNF709, ZNF433, ZNF567, ZNF383, ZNF781, EID2, ZNF780B, LGI4, SYNE4, ZNF676, ZNF100, ZNF540, SSBP4, ZNF431, ZNF675, ZNF627, DAND5, ZNF585A, GGN, CADM4, THAP8, U2AF1L4, ZNF626, FAM129C, SYCE2, IFNL2, IFNL3, IFNL1, ZNF780A, C19orf54, PRR19, TMEM145, CXCL17, LOC284344, ZNF575, LYPD5, ZNF283, ZNF763, ZNF844, LOC284395, SCGB2B2, WDR62, ZFP82, ZNF790-AS1, LOC284412, OR10H5, NWD1, SLC25A42, LINC00663, ZNF493, LOC284454, HKR1, ZNF181, ZNF260, ZNF546, VSTM2B, ZNF850, NCCRP1, SYCN, LEUTX, ZNF404, ZNF284, NANOS3, PALM3, SELV, ZNF429, ZNF233, TMEM205, YJEFN3, LOC374890, SBSN, ZNF829, ZNF568, B3GNT8, SLC27A1, CLEC17A, ZNF728, RGS9BP, KRTDAP, ZNF790, OR7A10, NUDT19, ZNF793, ACP7, LOC390937, PINLYP, SPRED3, LINC00664, LOC400682, LOC400684, LOC400685, HAPLN4, MIR181C, MIR23A, MIR24-2, MIR27A, ZNF506, PSG8, MIR181D, TMEM91, CCER2, LINC01529, SDHAF1, LOC644554, C19orf67, LOC648044, UCA1, PSG10P, LGALS7B, PHLDB3, MIR639, MIR640, MIR641, OVOL3, LOC728485, LOC728752, ZNF878, BORCS8, ZNF726, LINC01233, HPN-AS1, LINC01531, ZNF730, ZNF807, ZNF737, TMEM221, LOC100134317, SRRM5, ERICH4, TRT-AGT1-3, TRI-TAT1-1, MEF2B, ZNF729, LOC100289333, LOC100289650, MIR1470, MIR1270, LOC100379224, MIR3188, MIR3189, MIR4323, PCAT19, LOC100505585, LOC100505622, LOC100505715, LINC01532, TMEM147-AS1, LINC00665, LOC100507373, ZNF571-AS1, THEG5, LOC100507646, MIA-RAB4B, RAB4B-EGLN2, ZNF625-ZNF20, MIR4530, LOC100631378, LINC00904, MIR5695, MIR5196, MIR5684, UPK1A-AS1, LIPE-AS1, LINC01533, IFNL4, LOC101927151, LOC101927411, LOC101927572, ZNF529-AS1, LINC01534, LINC01535, ZNF793-AS1, LINC01480, LOC101928063, LOC101928464, LOC101928845, LOC101929124, LOC101929144, LOC101929164, LOC101930071, MIR6795, MIR6796, MIR6797, MIR7974, MIR8077, MIR6719, MIR6794, MIR6887, MIR1199, MIR6515, ZNF30-AS1, LOC102723617, LOC102724279, LOC102724360, LOC102724908, LOC102724958, LOC102725254, LINC01224, BISPR, LOC105372280, LOC105372288, FFAR2, LOC105372383, LOC105372397, SNORD135, SNORA104
See casesPathogenic
(Mar 30, 2010)
no assertion criteria provided
16.
GRCh37:
Chr19:11628640-13336101
GRCh38:
Chr19:11517825-13225287
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
17.
GRCh37:
Chr19:11338618-14642947
GRCh38:
Chr19:11227942-14532135
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
18.
GRCh37:
Chr19:10425934-14159806
GRCh38:
Chr19:10315258-14048994
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
19.
GRCh37:
Chr19:8941823-13442041
GRCh38:
Chr19:8831147-13331227
See casesLikely pathogenic
(May 6, 2011)
criteria provided, single submitter
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