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Items: 35

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr6:166571924
GRCh38:
Chr6:166158436
Tnot specifiedUncertain significance
(Feb 13, 2015)
criteria provided, single submitter
2.
GRCh37:
Chr6:166574246
GRCh38:
Chr6:166160758
TNeural tube defects, susceptibility torisk factor
(Nov 1, 2004)
no assertion criteria provided
3.
GRCh37:
Chr6:166579288
GRCh38:
Chr6:166165800
TSacral agenesis with vertebral anomaliesPathogenic
(Feb 1, 2014)
no assertion criteria provided
4.
GRCh37:
Chr6:165622608-166897295
RPS6KA2, T, PDE10A, MPC1, SFT2D1, C6orf118, PRR18, SDIM1See casesUncertain significanceno assertion criteria provided
5.
GRCh37:
Chr6:164361517-170919482
See casesPathogenicno assertion criteria provided
6.
GRCh37:
Chr6:166331006-166984713
RPS6KA2, T, MPC1, SFT2D1, PRR18See casesUncertain significanceno assertion criteria provided
7.
GRCh37:
Chr6:162381975-170919482
See casesPathogenicno assertion criteria provided
8.
GRCh37:
Chr6:151214792-170892243
See casesPathogenicno assertion criteria provided
9.
GRCh37:
Chr6:166571083-167265466
RPS6KA2, T, MPC1, SFT2D1, PRR18See casesUncertain significanceno assertion criteria provided
10.
GRCh37:
Chr6:163731741-167090237
RPS6KA2, T, QKI, PDE10A, MPC1, SFT2D1, PACRG, C6orf118, PRR18, SDIM1See casesPathogenicno assertion criteria provided
11.
GRCh37:
Chr6:165443824-170892302
See casesPathogenic
(Jan 20, 2016)
criteria provided, single submitter
12.
GRCh37:
Chr6:162865436-170901287
See casesPathogenic
(Feb 11, 2015)
criteria provided, single submitter
13.
GRCh37:
Chr6:161320930-170919482
GRCh38:
Chr6:160899898-170610394
See casesPathogenic
(Oct 1, 2013)
no assertion criteria provided
14.
GRCh37:
Chr6:152697473-170921089
GRCh38:
Chr6:152376338-170612001
See casesPathogenic
(Dec 22, 2010)
no assertion criteria provided
15.
GRCh37:
Chr6:153114537-170919482
GRCh38:
Chr6:152793402-170610394
See casesPathogenic
(Jul 1, 2013)
no assertion criteria provided
16.
GRCh37:
Chr6:166044862-166774510
GRCh38:
Chr6:165631374-166361022
T, PDE10A, LINC00473, SFT2D1, PRR18, LINC00602, LOC100289495, SDIM1, LOC101929297See casesUncertain significance
(Apr 30, 2011)
no assertion criteria provided
17.
GRCh37:
Chr6:166044862-166819268
GRCh38:
Chr6:165631374-166405780
T, PDE10A, MPC1, LINC00473, SFT2D1, PRR18, LINC00602, LOC100289495, SDIM1, LOC101929297See casesUncertain significance
(Apr 30, 2011)
no assertion criteria provided
18.
GRCh37:
Chr6:160336422-171023595
GRCh38:
Chr6:159915390-170714507
See casesPathogenic
(Sep 18, 2012)
no assertion criteria provided
19.
GRCh37:
Chr6:154860789-171023595
GRCh38:
Chr6:154539655-170714507
See casesPathogenic
(Feb 8, 2011)
no assertion criteria provided
20.
GRCh37:
Chr6:165203779-170921089
GRCh38:
Chr6:164790270-170612001
See casesPathogenic
(Jul 30, 2009)
no assertion criteria provided
21.
GRCh37:
Chr6:160905842-170921099
GRCh38:
Chr6:160484810-170612011
See casesPathogenic
(Apr 30, 2010)
no assertion criteria provided
22.
GRCh37:
Chr6:165539978-170890249
GRCh38:
Chr6:165126489-170581161
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
23.
GRCh37:
Chr6:163841256-170917906
GRCh38:
Chr6:163420224-170608818
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
24.
GRCh37:
Chr6:163210947-170911240
GRCh38:
Chr6:162789915-170602152
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
25.
GRCh37:
Chr6:162463878-170917906
GRCh38:
Chr6:162042846-170608818
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
26.
GRCh37:
Chr6:161626360-170890249
GRCh38:
Chr6:161205328-170581161
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
27.
GRCh37:
Chr6:160843793-170921089
GRCh38:
Chr6:160422761-170612001
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
28.
GRCh37:
Chr6:160780718-170917906
GRCh38:
Chr6:160359686-170608818
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
29.
GRCh37:
Chr6:160749320-170921089
GRCh38:
Chr6:160328288-170612001
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
30.
GRCh37:
Chr6:160246945-170921089
GRCh38:
Chr6:159825913-170612001
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
31.
GRCh37:
Chr6:159875671-170921089
GRCh38:
Chr6:159454639-170612001
See casesPathogenic
(Aug 12, 2011)
criteria provided, multiple submitters, no conflicts
32.
GRCh37:
Chr6:154439193-170911240
GRCh38:
Chr6:154118058-170602152
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
33.
GRCh37:
Chr6:159085800-170921089
GRCh38:
Chr6:158664768-170612001
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
34.
GRCh37:
Chr6:152697473-170892302
GRCh38:
Chr6:152376338-170583214
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
35.
GRCh37:
Chr6:141454127-169739666
GRCh38:
Chr6:141132990-169339571
ACAT2, CCR6, ESR1, FUCA2, GPR31, GRM1, HIVEP2, IGF2R, KIF25, LPA, MAS1, MAP3K4, AFDN, NMBR, OPRM1, PRKN, PCMT1, PLAGL1, PLG, RPS6KA2, SLC22A1, SLC22A3, SLC22A2, SOD2, T, TCP1, TCP10, DYNLT1, THBS2, UTRN, EZR, VIP, EPM2A, PEX3, RNASET2, STX11, SYNJ2, LATS1, QKI, WTAP, AKAP12, PHACTR2, UST, PDE10A, RAB32, KATNA1, FGFR1OP, SCAF8, TAB2, SASH1, SYNE1, MTHFD1L, IPCEF1, TIAM2, LINC01558, FBXO5, RGS17, MRPL18, CLDN20, NOX3, TFB1M, AIG1, SNX9, VTA1, MPC1, UNC93A, MTRF1L, RMND1, AGPAT4, TULP4, HYMAI, ADGRG6, PLEKHG1, ARID1B, TMEM181, ZBTB2, SMOC2, ULBP3, ARMT1, ZDHHC14, ADGB, FRMD1, AGPAT4-IT1, CCDC170, MYCT1, ULBP2, ULBP1, LPAL2, PPP1R14C, SF3B5, RSPH3, TTLL2, FBXO30, FNDC1, LRP11, LTV1, SERAC1, PPIL4, LINC00473, SYTL3, SFT2D1, GINM1, TAGAP, ADAT2, STXBP5, PACRG, RAET1E, LOC153910, ZC2HC1B, CNKSR3, RAET1L, PNLDC1, DACT2, C6orf118, SHPRH, PHACTR2-AS1, PACRG-AS1, PRR18, ZC3H12D, NUP43, RAET1G, SUMO4, SAMD5, IYD, DKFZp451B082, TCP10L2, LOC401286, GTF2H5, LINC00602, LOC441178, LOC645967, AFDN-AS1, SNORA20, SNORA29, STXBP5-AS1, TMEM242, PACRG-AS3, HGC6.3, UST-AS1, LOC100129518, C6orf99, TRL-TAA1-1, TRQ-TTG4-1, AIRN, LOC100289495, MIR1913, MIR1202, MIR1273C, MIR3918, MIR3939, MIR3692, SYNE1-AS1, SDIM1, KIF25-AS1, LINC01277, LOC100507557, CAHM, MIR4466, RAET1E-AS1, RPS6KA2-AS1, SYNJ2-IT1, RPS6KA2-IT1, EZR-AS1, LOC101928661, LOC101929122, PACRG-AS2, LOC101929297, LOC101929420, LOC101929460, LINC01615, LOC101929504, LOC101929523, MIR7161, LOC102723831, LOC102724053, LOC102724152, LOC102724357, LOC105378047, LOC105378052, LOC105378068, LOC105378098, MEAT6, LOC105378123, LOC105378127, LOC105378137, LOC105378146, LUADT1, SNORA98
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
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