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Items: 29

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
DOCK6Adams-Oliver syndrome 2Pathogenic
(Aug 12, 2011)
no assertion criteria provided
2.
DOCK6Adams-Oliver syndrome 2Pathogenic
(Aug 12, 2011)
no assertion criteria provided
3.
GRCh37:
Chr19:11311390
GRCh38:
Chr19:11200714
DOCK6Adams-Oliver syndrome 2GO-ESP:0.00042(G)Pathogenic
(Aug 11, 2016)
no assertion criteria provided
4.
GRCh37:
Chr19:11313256
GRCh38:
Chr19:11202580
DOCK6not specifiedGMAF:0.36060(A)
GO-ESP:0.39290(A)
Benign
(Apr 19, 2016)
criteria provided, single submitter
5.
GRCh37:
Chr19:11319669
GRCh38:
Chr19:11208993
DOCK6, LOC105372273not specifiedGMAF:0.00120(G)
GO-ESP:0.00216(G)
Uncertain significance
(Aug 1, 2016)
criteria provided, single submitter
6.
GRCh37:
Chr19:11322771
GRCh38:
Chr19:11212095
DOCK6, LOC105372273not specifiedGMAF:0.00040(T)
GO-ESP:0.00024(T)
Likely benigncriteria provided, single submitter
7.
GRCh37:
Chr19:11323874
GRCh38:
Chr19:11213198
DOCK6, LOC105372273Adams-Oliver syndrome 2GMAF:0.00020(T)
GO-ESP:0.00015(T)
Likely pathogenic
(Sep 24, 2013)
no assertion criteria provided
8.
GRCh37:
Chr19:11325073
GRCh38:
Chr19:11214397
DOCK6, LOC105372273not providedGMAF:0.00080(C)
GO-ESP:0.00019(C)
Uncertain significance
(Apr 25, 2016)
criteria provided, single submitter
9.
GRCh37:
Chr19:11325084
GRCh38:
Chr19:11214408
DOCK6, LOC105372273not providedLikely benign
(Jan 5, 2017)
criteria provided, single submitter
10.
GRCh37:
Chr19:11325234-11325235
GRCh38:
Chr19:11214558-11214559
DOCK6, LOC105372273Adams-Oliver syndrome 2Pathogenic
(Feb 4, 2016)
criteria provided, single submitter
11.
GRCh37:
Chr19:11325326
GRCh38:
Chr19:11214650
DOCK6, LOC105372273Adams-Oliver syndrome 2Pathogenic
(Apr 4, 2013)
no assertion criteria provided
12.
GRCh37:
Chr19:11333497
GRCh38:
Chr19:11222821
DOCK6Adams-Oliver syndrome 2GO-ESP:0.00002(T)Pathogenic
(Aug 11, 2016)
no assertion criteria provided
13.
GRCh37:
Chr19:11346308
GRCh38:
Chr19:11235632
DOCK6Adams-Oliver syndrome 2Pathogenic
(Apr 4, 2013)
no assertion criteria provided
14.
GRCh37:
Chr19:11353955-11353958
GRCh38:
Chr19:11243279-11243282
DOCK6Adams-Oliver syndromeGO-ESP:0.00005(-)Likely pathogenic
(Dec 1, 2014)
no assertion criteria provided
15.
GRCh37:
Chr19:11354254
GRCh38:
Chr19:11243578
DOCK6not providedUncertain significance
(Sep 22, 2016)
criteria provided, single submitter
16.
GRCh37:
Chr19:11356328
GRCh38:
Chr19:11245652
DOCK6Hydrocephalus, MacrocephalyGO-ESP:0.00007(A)Uncertain significanceno assertion criteria provided
17.
GRCh37:
Chr19:11358760
GRCh38:
Chr19:11248084
DOCK6Adams-Oliver syndrome 2Pathogenic
(Aug 11, 2016)
no assertion criteria provided
18.
GRCh37:
Chr19:11358799
GRCh38:
Chr19:11248123
DOCK6not specifiedGMAF:0.48040(G)Benigncriteria provided, single submitter
19.
GRCh37:
Chr19:11362868
GRCh38:
Chr19:11252192
DOCK6not providedLikely benign
(Jan 5, 2017)
criteria provided, single submitter
20.
GRCh37:
Chr19:11363146
GRCh38:
Chr19:11252470
DOCK6not specifiedGMAF:0.40880(A)Benigncriteria provided, single submitter
21.
GRCh37:
Chr19:9678768-14853426
See casesPathogenic
(Nov 30, 2010)
no assertion criteria provided
22.
GRCh37:
Chr19:11258504-11317331
KANK2, DOCK6, SPC24See casesUncertain significanceno assertion criteria provided
23.
GRCh37:
Chr19:10430150-13888674
GRCh38:
Chr19:10319474-13777860
See casesPathogenic
(Oct 1, 2010)
no assertion criteria provided
24.
GRCh37:
Chr19:9846119-11338677
GRCh38:
Chr19:9735443-11228001
See casesPathogenic
(Jul 30, 2009)
no assertion criteria provided
25.
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, COQ8B, 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, MISP3, 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, SELENOV, ZNF429, ZNF233, TMEM205, YJEFN3, LINC01785, SBSN, ZNF829, ZNF568, B3GNT8, SLC27A1, ZNF788, CLEC17A, ZNF728, RGS9BP, KRTDAP, ZNF790, OR7A10, NUDT19, ZNF793, ACP7, LOC390937, PINLYP, SPRED3, LINC00664, LOC400682, LOC400684, LINC01801, HAPLN4, MIR181C, MIR23A, MIR24-2, MIR27A, ZNF506, PSG8, MIR181D, TMEM91, CCER2, LINC01529, SDHAF1, LOC644554, C19orf67, ZNF723P, LOC648044, UCA1, PSG10P, LGALS7B, PHLDB3, MIR639, MIR640, MIR641, OVOL3, LOC728485, LOC728752, ZNF878, LOC729966, BORCS8, ZNF726, LINC01233, HPN-AS1, LINC01531, ZNF730, ZNF807, ZNF737, TMEM221, LOC100134317, SRRM5, ERICH4, TRT-AGT1-3, TRI-TAT1-1, MEF2B, ZNF729, LOC100289333, PSG8-AS1, 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, LINC01838, MIR5695, MIR5196, MIR5684, UPK1A-AS1, LIPE-AS1, LINC01533, IFNL4, LOC101927151, LINC01782, LOC101927572, ZNF529-AS1, LINC01534, LINC01535, ZNF793-AS1, LINC01480, LOC101928063, LOC101928464, LINC01842, LOC101929124, LINC01858, LINC01859, LOC101930071, MIR6795, MIR6796, MIR6797, MIR7974, MIR8077, MIR6719, MIR6794, MIR6887, MIR1199, MIR6515, ZNF30-AS1, LINC01766, LINC01835, LOC102724360, LOC102724908, LOC102724958, LOC102725254, LINC01224, BISPR, LOC105372280, LINC01841, LINC01764, LINC01855, FFAR2, LOC105372383, LOC105372397, SNORD135, SNORA104
See casesPathogenic
(Mar 30, 2010)
no assertion criteria provided
26.
GRCh37:
Chr19:11249571-11660766
GRCh38:
Chr19:11138895-11549951
See casesUncertain significance
(Aug 12, 2011)
criteria provided, single submitter
27.
GRCh37:
Chr19:11338618-14642947
GRCh38:
Chr19:11227942-14532135
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
28.
GRCh37:
Chr19:10425934-14159806
GRCh38:
Chr19:10315258-14048994
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
29.
GRCh37:
Chr19:8941823-13442041
GRCh38:
Chr19:8831147-13331227
See casesLikely pathogenic
(May 6, 2011)
criteria provided, single submitter
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