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Items: 83

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
PLNDilated cardiomyopathy 1PPathogenic
(Feb 25, 2016)
criteria provided, single submitter
2.
PLNDilated cardiomyopathy 1PPathogenic
(May 1, 2008)
no assertion criteria provided
3.
PLNFamilial hypertrophic cardiomyopathy 18Pathogenic
(Jan 1, 2007)
no assertion criteria provided
4.
PLNFamilial hypertrophic cardiomyopathy 18Pathogenic
(Apr 25, 2003)
no assertion criteria provided
5.
PLNDilated cardiomyopathy 1PPathogenic
(Jan 31, 2006)
no assertion criteria provided
6.
GRCh37:
Chr6:112069445-120994664
6q21-6q22.1 deletionLikely pathogenic
(Sep 1, 2015)
criteria provided, single submitter
7.
GRCh37:
Chr6:118869224
GRCh38:
Chr6:118548061
PLN, CEP85LDilated cardiomyopathy 1PUncertain significance
(Jun 16, 2017)
criteria provided, single submitter
8.
GRCh37:
Chr6:118869412
GRCh38:
Chr6:118548249
PLN, CEP85LDilated cardiomyopathy 1PUncertain significance
(Dec 22, 2015)
criteria provided, single submitter
9.
GRCh37:
Chr6:118869417
GRCh38:
Chr6:118548254
PLN, CEP85LDilated cardiomyopathy 1PUncertain significance
(Oct 29, 2015)
criteria provided, single submitter
10.
GRCh37:
Chr6:118869423
GRCh38:
Chr6:118548260
PLN, CEP85Lnot specifiedBenign
(Mar 28, 2016)
criteria provided, single submitter
11.
GRCh37:
Chr6:118869503
GRCh38:
Chr6:118548340
PLN, CEP85LHypertrophic cardiomyopathy, Dilated Cardiomyopathy, DominantLikely benign
(Jun 14, 2016)
criteria provided, single submitter
12.
GRCh37:
Chr6:118869511
GRCh38:
Chr6:118548348
PLN, CEP85LHypertrophic cardiomyopathy, Dilated Cardiomyopathy, DominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
13.
GRCh37:
Chr6:118869533
GRCh38:
Chr6:118548370
PLN, CEP85LHypertrophic cardiomyopathy, Dilated Cardiomyopathy, DominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
14.
GRCh37:
Chr6:118869572
GRCh38:
Chr6:118548409
PLN, CEP85Lnot specifiedLikely benign
(Mar 1, 2016)
criteria provided, single submitter
15.
GRCh37:
Chr6:118879983
GRCh38:
Chr6:118558820
PLN, CEP85LHypertrophic cardiomyopathy, Dilated Cardiomyopathy, DominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
16.
GRCh37:
Chr6:118880045
GRCh38:
Chr6:118558882
PLN, CEP85Lnot specifiedLikely benign
(Mar 1, 2016)
criteria provided, single submitter
17.
GRCh37:
Chr6:118880071
GRCh38:
Chr6:118558908
PLN, CEP85Lnot specifiedLikely benign
(Mar 17, 2016)
criteria provided, single submitter
18.
GRCh37:
Chr6:118880086
GRCh38:
Chr6:118558923
PLN, CEP85Lnot specifiedUncertain significance
(Feb 14, 2014)
criteria provided, single submitter
19.
GRCh37:
Chr6:118880098
GRCh38:
Chr6:118558935
PLN, CEP85Lnot specifiedUncertain significance
(Jun 23, 2015)
criteria provided, single submitter
20.
GRCh37:
Chr6:118880106
GRCh38:
Chr6:118558943
PLN, CEP85LDilated cardiomyopathy 1PUncertain significance
(Oct 12, 2016)
criteria provided, single submitter
21.
GRCh37:
Chr6:118880109
GRCh38:
Chr6:118558946
PLN, CEP85LPrimary dilated cardiomyopathy, Dilated cardiomyopathy 1P, not provided
Pathogenic
(Jun 2, 2017)
criteria provided, multiple submitters, no conflicts
22.
GRCh37:
Chr6:118880110
GRCh38:
Chr6:118558947
PLN, CEP85Lnot specifiedUncertain significance
(Jan 24, 2013)
criteria provided, single submitter
23.
GRCh37:
Chr6:118880111
GRCh38:
Chr6:118558948
PLN, CEP85LDilated cardiomyopathy 1P, not specifiedBenign/Likely benign
(Jun 27, 2017)
criteria provided, multiple submitters, no conflicts
24.
GRCh37:
Chr6:118880113
GRCh38:
Chr6:118558950
PLN, CEP85LDilated cardiomyopathy 1PUncertain significance
(Jun 19, 2017)
criteria provided, single submitter
25.
GRCh37:
Chr6:118880118
GRCh38:
Chr6:118558955
PLN, CEP85LDilated cardiomyopathy 1P, not specifiedUncertain significance
(Jul 27, 2017)
criteria provided, multiple submitters, no conflicts
26.
GRCh37:
Chr6:118880121
GRCh38:
Chr6:118558958
PLN, CEP85Lnot specifiedUncertain significance
(Feb 24, 2011)
criteria provided, single submitter
27.
GRCh37:
Chr6:118880124-118880126
GRCh38:
Chr6:118558961-118558963
PLN, CEP85LPrimary dilated cardiomyopathy, Dilated cardiomyopathy 1P, Arrhythmogenic right ventricular cardiomyopathy, type 9,
Cardiomyopathy, not provided, Cardiovascular phenotype
Pathogenic
(Aug 25, 2017)
criteria provided, multiple submitters, no conflicts
28.
GRCh37:
Chr6:118880125
GRCh38:
Chr6:118558962
PLN, CEP85LDilated cardiomyopathy 1PUncertain significance
(Mar 17, 2017)
criteria provided, single submitter
29.
GRCh37:
Chr6:118880127
GRCh38:
Chr6:118558964
PLN, CEP85Lnot specifiedUncertain significance
(May 1, 2012)
criteria provided, single submitter
30.
GRCh37:
Chr6:118880145
GRCh38:
Chr6:118558982
PLN, CEP85Lnot specifiedUncertain significance
(Mar 1, 2008)
no assertion criteria provided
31.
GRCh37:
Chr6:118880147-118880148
GRCh38:
Chr6:118558984-118558985
PLN, CEP85LCardiomyopathy, not specifiedUncertain significance
(Dec 6, 2016)
criteria provided, single submitter
32.
GRCh37:
Chr6:118880151
GRCh38:
Chr6:118558988
PLN, CEP85Lnot specifiedUncertain significance
(Mar 11, 2015)
criteria provided, single submitter
33.
GRCh37:
Chr6:118880157
GRCh38:
Chr6:118558994
PLN, CEP85Lnot specifiedUncertain significance
(Dec 11, 2015)
criteria provided, single submitter
34.
GRCh37:
Chr6:118880157
GRCh38:
Chr6:118558994
PLN, CEP85Lnot specifiedUncertain significance
(May 7, 2013)
criteria provided, single submitter
35.
GRCh37:
Chr6:118880158
GRCh38:
Chr6:118558995
PLN, CEP85LDilated cardiomyopathy 1PUncertain significance
(May 30, 2016)
criteria provided, single submitter
36.
GRCh37:
Chr6:118880200
GRCh38:
Chr6:118559037
PLN, CEP85LDilated cardiomyopathy 1P, Primary familial hypertrophic cardiomyopathy, Familial hypertrophic cardiomyopathy 18,
Sudden cardiac death, not provided, Dilated cardiomyopathy,
Cardiac arrest
Pathogenic/Likely pathogenic
(Jul 21, 2017)
criteria provided, multiple submitters, no conflicts
37.
GRCh37:
Chr6:118880215
GRCh38:
Chr6:118559052
PLN, CEP85LFamilial hypertrophic cardiomyopathy 18Uncertain significance
(May 13, 2016)
no assertion criteria provided
38.
GRCh37:
Chr6:118880216-118880236
GRCh38:
Chr6:118559053-118559073
PLN, CEP85LDilated cardiomyopathy 1PUncertain significance
(May 14, 2017)
criteria provided, single submitter
39.
GRCh37:
Chr6:118880227-118880242
GRCh38:
Chr6:118559064-118559079
PLN, CEP85Lnot specifiedUncertain significance
(Jan 18, 2017)
criteria provided, single submitter
40.
GRCh37:
Chr6:118880229
GRCh38:
Chr6:118559066
PLN, CEP85Lnot specifiedLikely benign
(Mar 20, 2013)
criteria provided, single submitter
41.
GRCh37:
Chr6:118880236
GRCh38:
Chr6:118559073
PLN, CEP85Lnot specifiedUncertain significance
(Aug 24, 2012)
criteria provided, single submitter
42.
GRCh37:
Chr6:118880247
GRCh38:
Chr6:118559084
PLN, CEP85Lnot specifiedLikely benign
(Feb 15, 2012)
criteria provided, single submitter
43.
GRCh37:
Chr6:118880260
GRCh38:
Chr6:118559097
PLN, CEP85Lnot specifiedLikely benign
(May 15, 2015)
criteria provided, single submitter
44.
GRCh37:
Chr6:118880332
GRCh38:
Chr6:118559169
PLN, CEP85LHypertrophic cardiomyopathy, Dilated Cardiomyopathy, DominantLikely benign
(Jun 14, 2016)
criteria provided, single submitter
45.
GRCh37:
Chr6:118880333
GRCh38:
Chr6:118559170
PLN, CEP85LHypertrophic cardiomyopathy, Dilated Cardiomyopathy, DominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
46.
GRCh37:
Chr6:118880442
GRCh38:
Chr6:118559279
PLN, CEP85LHypertrophic cardiomyopathy, Dilated Cardiomyopathy, DominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
47.
GRCh37:
Chr6:118880493
GRCh38:
Chr6:118559330
PLN, CEP85LHypertrophic cardiomyopathy, Dilated Cardiomyopathy, DominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
48.
GRCh37:
Chr6:118880640
GRCh38:
Chr6:118559477
PLN, CEP85LHypertrophic cardiomyopathy, Dilated Cardiomyopathy, DominantLikely benign
(Jun 14, 2016)
criteria provided, single submitter
49.
GRCh37:
Chr6:118880658
GRCh38:
Chr6:118559495
PLN, CEP85LHypertrophic cardiomyopathy, Dilated Cardiomyopathy, DominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
50.
GRCh37:
Chr6:118880679-118880681
GRCh38:
Chr6:118559516-118559518
PLN, CEP85LHypertrophic cardiomyopathy, Dilated Cardiomyopathy, DominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
51.
GRCh37:
Chr6:118880824
GRCh38:
Chr6:118559661
PLN, CEP85LHypertrophic cardiomyopathy, Dilated Cardiomyopathy, DominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
52.
GRCh37:
Chr6:118881083-118881084
GRCh38:
Chr6:118559920-118559921
PLN, CEP85LHypertrophic cardiomyopathy, Dilated Cardiomyopathy, DominantLikely benign
(Jun 14, 2016)
criteria provided, single submitter
53.
GRCh37:
Chr6:118881120
GRCh38:
Chr6:118559957
PLN, CEP85LHypertrophic cardiomyopathy, Dilated Cardiomyopathy, DominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
54.
GRCh37:
Chr6:118881134
GRCh38:
Chr6:118559971
PLN, CEP85LHypertrophic cardiomyopathy, Dilated Cardiomyopathy, DominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
55.
GRCh37:
Chr6:118881313
GRCh38:
Chr6:118560150
PLN, CEP85LHypertrophic cardiomyopathy, Dilated Cardiomyopathy, DominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
56.
GRCh37:
Chr6:118881378
GRCh38:
Chr6:118560215
PLN, CEP85LHypertrophic cardiomyopathy, Dilated Cardiomyopathy, DominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
57.
GRCh37:
Chr6:118881415
GRCh38:
Chr6:118560252
PLN, CEP85LHypertrophic cardiomyopathy, Dilated Cardiomyopathy, DominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
58.
GRCh37:
Chr6:118881423
GRCh38:
Chr6:118560260
PLN, CEP85LHypertrophic cardiomyopathy, Dilated Cardiomyopathy, DominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
59.
GRCh37:
Chr6:118881468
GRCh38:
Chr6:118560305
PLN, CEP85LHypertrophic cardiomyopathy, Dilated Cardiomyopathy, DominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
60.
GRCh37:
Chr6:118881486
GRCh38:
Chr6:118560323
PLN, CEP85LHypertrophic cardiomyopathy, Dilated Cardiomyopathy, DominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
61.
GRCh37:
Chr6:118869382-118880263
GRCh38:
Chr6:118548219-118559100
PLN, CEP85LDilated cardiomyopathy 1PUncertain significance
(Jun 6, 2017)
criteria provided, single submitter
62.
GRCh37:
Chr6:156975-170919482
ABCF1, ACAT2, CRISP1, AGER, AIF1, CRYBG1, AMD1, ARG1, ATP6V1G2, ADGRB3, BAK1, BCKDHB, CFB, PRDM1, BMP5, BMP6, BPHL, BTN1A1, BYSL, C2, C4A, C4B, DDR1, RUNX2, CCNC, CCND3, CDC5L, CDKN1A, CDSN, CGA, CLIC1, CLPS, CCR6, CNR1, COL9A1, COL10A1, COL11A2, COL12A1, COL19A1, COX7A2, ATF6B, MAPK14, CSNK2B, CTGF, CYP21A2, DAXX, DNAH8, DXO, DSP, E2F3, EDN1, EEF1A1, SERPINB1, SLC29A1, EPB41L2, EPHA7, EYA4, ESR1, F13A1, FABP7, FANCE, FKBP5, FOXF2, FOXC1, FOXO3, FRK, FUCA2, FYN, GABBR1, GABRR1, GABRR2, GCNT2, GJA1, GCLC, GLO1, GLP1R, GMDS, GMPR, GNL1, GPLD1, GPR6, GPR31, GPX5, GRIK2, GRM1, GRM4, GSTA1, GSTA2, GSTA3, GSTA4, GTF2H4, GUCA1A, GUCA1B, HIST1H1C, HIST1H1D, HIST1H1E, HIST1H1B, HIST1H1T, HIST1H2AE, HIST1H2AD, HIST1H2BD, HIST1H2BB, HIST1H1A, HCRTR2, HDAC2, HFE, HIVEP1, HIVEP2, HLA-A, HLA-B, HLA-C, HLA-DMA, HLA-DMB, HLA-DOA, HLA-DOB, HLA-DPA1, HLA-DPB1, HLA-DQA1, HLA-DQA2, HLA-DQB1, HLA-DQB2, HLA-DRA, HLA-DRB1, HLA-DRB5, HLA-E, HLA-F, HLA-G, HMGA1, HSF2, HSPA1A, HSPA1B, HSPA1L, HSP90AB1, HTR1B, HTR1E, ID4, IFNGR1, IGF2R, IL17A, IMPG1, IRF4, ITPR3, JARID2, KIFC1, KIF25, KPNA5, LAMA2, LAMA4, LPA, LTA, LTB, MARCKS, MAK, MAN1A1, MAS1, MCM3, MDFI, ME1, MEA1, MAP3K4, MAP3K5, MEP1A, MICB, MLN, AFDN, MOCS1, MOG, MSH5, MUT, MYB, MYO6, RPL10A, NEDD9, NEU1, NFKBIE, NFKBIL1, NFYA, NMBR, NQO2, NOTCH4, NT5E, OPRM1, PRKN, PBX2, PCMT1, PDCD2, ENPP1, ENPP3, PEX6, PEX7, PGC, PGK2, PGM3, PHF1, SERPINB6, SERPINB9, PIM1, PKHD1, PLAGL1, PLG, PLN, POLH, POU3F2, POU5F1, PPARD, PPP1R10, PPP2R5D, PREP, PKIB, MAPK13, PRL, PSMB1, PSMB8, PSMB9, PTK7, PTPRK, RGL2, PRPH2, REV3L, TRIM27, RHAG, RING1, BRD2, RNF5, ROS1, RPS6KA2, RPS10, RPS12, RPS18, RREB1, RXRB, VPS52, ATXN1, SRSF3, SGK1, SIM1, SKIV2L, SLC17A1, SLC22A1, SLC22A3, SLC22A2, SMPD2, SNRPC, SOD2, SOX4, SRF, SRPK1, SSR1, ELOVL4, TBXT, TAF11, MAP3K7, TAP1, TAP2, TAPBP, TBCC, TBP, TCF19, TCF21, TCP1, TCP10, TCP11, TCTE3, PPP1R11, DYNLT1, TEAD3, TFAP2A, TFAP2B, THBS2, NR2E1, TNF, TNFAIP3, TNXB, TRA-TGC7-1, TPBG, TPD52L1, TPMT, CRISP2, TRX-CAT1-2, TRX-CAT2-1, TRR-TCG4-1, TSPYL1, TTK, TUBB2A, TULP1, UTRN, VARS, VEGFA, EZR, VIP, ZNF76, ZNF165, TRIM26, ZNF184, ZSCAN26, ZKSCAN8, ZSCAN9, PTP4A1, DEK, ALDH5A1, PRRC2A, BAG6, GPANK1, DDX39B, ABHD16A, SLC39A7, HSD17B8, OR2H2, NELFE, LST1, PLA2G7, TFEB, RNF217-AS1, EPM2A, HIST1H4I, HIST1H2AI, HIST1H2AK, HIST1H2AJ, HIST1H2AL, HIST1H2AC, HIST1H2AB, HIST1H2AM, HIST1H2BG, HIST1H2BL, HIST1H2BN, HIST1H2BM, HIST1H2BF, HIST1H2BE, HIST1H2BH, HIST1H2BI, HIST1H2BC, HIST1H2BO, HIST1H3A, HIST1H3D, HIST1H3C, HIST1H3E, HIST1H3I, HIST1H3G, HIST1H3J, HIST1H3H, HIST1H3B, HIST1H4A, HIST1H4D, HIST1H4F, HIST1H4K, HIST1H4J, HIST1H4C, HIST1H4H, HIST1H4B, HIST1H4E, HIST1H4L, HIST1H4G, STX7, DHX16, SUPT3H, PEX3, GCM1, DDO, RNASET2, KCNK5, STX11, B3GALT4, SNX3, RNGTT, RIPK1, CD164, SYNGAP1, WISP3, STK19, IER3, SYNJ2, VNN2, VNN1, PRPF4B, WASF1, HIST1H3F, HIST1H2AG, HIST1H2BJ, RNF8, TAAR5, MAP7, TBX18, LATS1, GCM2, WDR46, ZBTB22, TAAR2, CD83, HMGN3, PPT2, CDYL, NCR2, MED23, QKI, LY86, FHL5, AKAP7, ATG5, MED20, SLC25A27, TBPL1, EEF1E1, BAG2, POLR1C, MAD2L1BP, WTAP, AKAP12, MDC1, TRAM2, KIAA0408, PHACTR2, RIPOR2, ZSCAN12, BCLAF1, CUL7, ZBTB24, KIAA0319, SNAP91, FIG4, NUP153, CASP8AP2, RANBP9, SLC17A4, UST, TRIM10, FLOT1, RCAN2, SLC17A2, PRSS16, CRISP3, TRDN, CITED2, BTN3A3, BTN2A2, ECI2, PFDN6, HMGN4, TRIM38, CAP2, SYNCRIP, UBD, AGPAT1, SLC35A1, SCGN, DNPH1, C6orf10, FARS2, FUT9, CNPY3, TRAF3IP2, HBS1L, SLC17A3, RPP40, FRS3, PDE10A, SLC22A7, HCP5, EHMT2, SMPDL3A, APOBEC2, PNRC1, ASCC3, RAB32, TRIM31, KATNA1, FGFR1OP, BTN3A2, BTN3A1, BTN2A1, CAPN11, BVES, NUDT3, SEC63, NRM, STK38, SCAF8, CEP162, ICK, ENPP4, ANKRD6, RIMS1, DOPEY1, ZNF292, CMTR1, CDK19, CUL9, TAB2, MDN1, TSPYL4, ANKS1A, UBR2, SASH1, SYNE1, UFL1, SIRT5, TRS-AGA2-3, PHF3, HEY2, DAAM2, BICRAL, TRS-TGA4-1, DDAH2, HEBP2, ORC3, CD2AP, MTCH1, ZNF318, SPDEF, MTO1, ASF1A, YIPF3, USP49, CCDC28A, MTHFD1L, PNISR, IBTK, MOXD1, IPCEF1, ZNF451, SENP6, OR2B6, TIAM2, FBXL4, FAM50B, FBXO9, FBXO5, SLC17A5, OR12D2, OR11A1, RGS17, OR2W1, OR2J2, OR2H1, SNORD50A, PDE7B, FILIP1, BRPF3, GNMT, TNFRSF21, SESN1, TINAG, DLL1, OSTM1, MRPS18B, TMEM14A, MRPL18, NDUFAF4, C6orf15, MYLIP, ABT1, DSE, PRICKLE4, PACSIN1, ZNRD1, CLDN20, NOX3, DEF6, C6orf48, SLC35B3, HDDC2, GMNN, MRPL2, TFB1M, CYB5R4, TUBE1, C6orf203, TBC1D7, NRN1, CYP39A1, CDC40, RWDD1, AIG1, NOL7, SNX9, FAM8A1, UBE2J1, DCDC2, ETV7, TMEM14C, VTA1, LGSN, TDP2, CUTA, PPIL1, MPC1, HECA, RAB23, COQ3, CLIC5, IL20RA, TREM2, TREM1, UNC93A, GFOD1, HMGCLL1, MTRF1L, CCHCR1, GTPBP2, AHI1, UHRF1BP1, ELOVL2, CDKAL1, PAK1IP1, RMND1, PHIP, SOBP, AKIRIN2, CENPQ, MRPS18A, MRPS10, LRRC1, PHF10, QRSL1, VNN3, TMEM63B, DDX43, FAM46A, CARMIL1, TBC1D22B, TMEM30A, EXOC2, SAYSD1, ERMARD, LMBRD1, TRERF1, ACOT13, ECHDC1, APOM, BTNL2, KCNQ5, TRIM39, AGPAT4, WRNIP1, DUSP22, TULP4, RARS2, HYMAI, PDSS2, GOPC, LYRM4, SMIM8, VARS2, ADGRG6, ARFGEF3, NHSL1, LYRM2, SNX14, MRS2, PLEKHG1, ARID1B, LRFN2, AARS2, XPO5, SERINC1, HACE1, FAM135A, TMEM181, ZBTB2, BEND3, KIAA1586, CPNE5, LSM2, C6orf47, LY6G5B, ABRACL, RRAGD, LY6G6D, ENPP5, PRDM13, PBOV1, BACH2, ELOVL5, TRMT11, SMAP1, ZFAND3, SLC22A23, BLOC1S5, MCUR1, GPSM3, FKBPL, KIF13A, PERP, SMOC2, POPDC3, ZSCAN31, ALDH8A1, C6orf106, MICAL1, MRPL14, DLK2, ULBP3, OR2A4, ARMT1, OGFRL1, FAM184A, ZDHHC14, ZNF322, MANEA, ADGB, TREML2, RPP21, ATAT1, FRMD1, CCDC170, MYCT1, ZKSCAN3, ULBP2, ULBP1, ZSCAN16, RNF39, SLC44A4, VWA7, MPIG6B, LY6G6C, LY6G5C, PRR3, KHDC1, PRRT1, EGFL8, GPR63, COL21A1, C6orf62, OR5V1, OR2B2, PPP1R14C, OR12D3, SPACA1, RNF146, TMEM14B, SF3B5, TAAR8, SH3BGRL2, RIOK1, TFAP2D, KCNK16, RSPH3, TTLL2, DTNBP1, ARMC2, FBXO30, RPF2, UQCC2, L3MBTL3, FAM120B, MCHR2, PGBD1, FAXC, FNDC1, TTBK1, GJA10, RTN4IP1, ADTRP, RSPO3, LRP11, LTV1, SERAC1, USP45, REPS1, HIST1H2AH, HIST1H2BK, PPIL4, PAQR8, SLC22A16, RRP36, LINC01621, KCNK17, ABCC10, TRIM15, KLC4, UBE3D, MLIP, MFSD4B, TJAP1, ARHGAP18, TRS-TGA2-1, POM121L2, SYTL3, FOXQ1, GTF3C6, MRAP2, RWDD2A, IL17F, MTFR2, SFT2D1, EFHC1, BTBD9, KLHL32, TMEM200A, ZBED9, CGAS, FOXP4, KLHDC3, NUS1, GINM1, SLC26A8, IL22RA2, MAS1L, SLC18B1, SLC16A10, IP6K3, TAGAP, RN7SK, TAF8, ADAT2, RIPPLY2, IRAK1BP1, CLVS2, TAAR9, TAAR1, STXBP5, NCOA7, HINT3, PACRG, B3GAT2, SDHAF4, CD109, RAET1E, PM20D2, SRSF12, C6orf141, HUS1B, TRIM40, DPCR1, NRSN1, ZC2HC1B, SNRNP48, CNKSR3, RAET1L, SAMD3, SLC2A12, MBOAT1, HDGFL1, PNLDC1, RNF217, NKAIN2, KHDC3L, CFAP206, LINC01600, CCDC167, PRSS35, LCA5, OLIG3, TXLNB, DACT2, C6orf118, PSORS1C1, PSORS1C2, PPP1R18, PTCRA, TCTE1, KHDRBS2, TRIM39-RPP21, TUBB, C6orf163, AK9, NT5DC1, CALHM4, ZUFSP, FAM162B, TBC1D32, BEND6, GSTA5, OPN5, ADGRF4, ADGRF5, TDRD6, SPATS1, C6orf223, RSPH9, LRRC73, OARD1, KIF6, TMEM217, FGD2, PI16, C6orf89, ARMC12, SMIM29, LEMD2, ZBTB9, ZBTB12, C6orf136, HIST1H2AA, KDM1B, RBM24, RNF182, PHACTR1, SMIM13, SYCP2L, PXDC1, HS3ST5, GPRC6A, RFX6, SLC35F1, FAM83B, ADGRF2, TSPO2, UNC5CL, KCTD20, PXT1, LHFPL5, SCUBE3, ZSCAN23, NKAPL, FAM217A, VGLL2, DEFB110, DEFB112, DEFB113, DEFB114, AFG1L, TMEM244, MMS22L, WDR27, CALHM5, MCM9, RNF144B, HIST1H2BA, SCML4, GPX6, SHPRH, NCR3, LY6G6F, OFCC1, MDGA1, ADGRF1, ZNF311, CEP57L1, PPIL6, DCBLD1, CAGE1, PRR18, HCG22, PNPLA1, TREML4, RPL7L1, TAAR6, SLC35D3, ZC3H12D, MYLK4, DPPA5, CLPSL1, TREML1, RSPH4A, ECT2L, EYS, ZNF391, ZFP57, TUBB2B, SLC35B2, C6orf52, NUP43, HCG26, C6orf58, RAET1G, KAAG1, GJB7, NHLRC1, ZKSCAN4, SNHG5, SUMO4, CENPW, SOGA3, CEP85L, C6orf120, THEMIS, PSMG4, SFTA2, CLPSL2, C6orf222, GLYATL3, GFRAL, LIN28B, C6orf183, SAMD5, IYD, MUC21, STMND1, MCCD1, SAPCD1, RAB44, LINC00951, CRIP3, KLHL31, TCP10L2, DEFB133, C6orf201, GTF2H5, ERVFRD-1, MIR206, MIR219A1, MIR30A, HCG17, C6orf226, TMEM151B, OOEP, CALHM6, LINC02487, OR2B3, OR2J3, OR14J1, OR10C1, PTCHD4, RFPL4B, MIR133B, KU-MEL-3, FAM229B, TRAF3IP2-AS1, CTAGE9, C6orf132, PPP1R3G, SNORD50B, METTL24, HULC, TMEM242, LOC729681, TMEM170B, MIR877, TRAPPC3L, KHDC1L, TSTD3, C6orf99, TOMM6, AIRN, ANKRD66, ERVH-3, SYNE1-AS1, SDIM1, SMLR1, LINC02539, MICA, MUC22, LOC101926915, LOC101927189
See casesPathogenic
(Jul 14, 2015)
no assertion criteria provided
63.
GRCh37:
Chr6:156975-170919482
ABCF1, ACAT2, CRISP1, AGER, AIF1, CRYBG1, AMD1, ARG1, ATP6V1G2, ADGRB3, BAK1, BCKDHB, CFB, PRDM1, BMP5, BMP6, BPHL, BTN1A1, BYSL, C2, C4A, C4B, DDR1, RUNX2, CCNC, CCND3, CDC5L, CDKN1A, CDSN, CGA, CLIC1, CLPS, CCR6, CNR1, COL9A1, COL10A1, COL11A2, COL12A1, COL19A1, COX7A2, ATF6B, MAPK14, CSNK2B, CTGF, CYP21A2, DAXX, DNAH8, DXO, DSP, E2F3, EDN1, EEF1A1, SERPINB1, SLC29A1, EPB41L2, EPHA7, EYA4, ESR1, F13A1, FABP7, FANCE, FKBP5, FOXF2, FOXC1, FOXO3, FRK, FUCA2, FYN, GABBR1, GABRR1, GABRR2, GCNT2, GJA1, GCLC, GLO1, GLP1R, GMDS, GMPR, GNL1, GPLD1, GPR6, GPR31, GPX5, GRIK2, GRM1, GRM4, GSTA1, GSTA2, GSTA3, GSTA4, GTF2H4, GUCA1A, GUCA1B, HIST1H1C, HIST1H1D, HIST1H1E, HIST1H1B, HIST1H1T, HIST1H2AE, HIST1H2AD, HIST1H2BD, HIST1H2BB, HIST1H1A, HCRTR2, HDAC2, HFE, HIVEP1, HIVEP2, HLA-A, HLA-B, HLA-C, HLA-DMA, HLA-DMB, HLA-DOA, HLA-DOB, HLA-DPA1, HLA-DPB1, HLA-DQA1, HLA-DQA2, HLA-DQB1, HLA-DQB2, HLA-DRA, HLA-DRB1, HLA-DRB5, HLA-E, HLA-F, HLA-G, HMGA1, HSF2, HSPA1A, HSPA1B, HSPA1L, HSP90AB1, HTR1B, HTR1E, ID4, IFNGR1, IGF2R, IL17A, IMPG1, IRF4, ITPR3, JARID2, KIFC1, KIF25, KPNA5, LAMA2, LAMA4, LPA, LTA, LTB, MARCKS, MAK, MAN1A1, MAS1, MCM3, MDFI, ME1, MEA1, MAP3K4, MAP3K5, MEP1A, MICB, MLN, AFDN, MOCS1, MOG, MSH5, MUT, MYB, MYO6, RPL10A, NEDD9, NEU1, NFKBIE, NFKBIL1, NFYA, NMBR, NQO2, NOTCH4, NT5E, OPRM1, PRKN, PBX2, PCMT1, PDCD2, ENPP1, ENPP3, PEX6, PEX7, PGC, PGK2, PGM3, PHF1, SERPINB6, SERPINB9, PIM1, PKHD1, PLAGL1, PLG, PLN, POLH, POU3F2, POU5F1, PPARD, PPP1R10, PPP2R5D, PREP, PKIB, MAPK13, PRL, PSMB1, PSMB8, PSMB9, PTK7, PTPRK, RGL2, PRPH2, REV3L, TRIM27, RHAG, RING1, BRD2, RNF5, ROS1, RPS6KA2, RPS10, RPS12, RPS18, RREB1, RXRB, VPS52, ATXN1, SRSF3, SGK1, SIM1, SKIV2L, SLC17A1, SLC22A1, SLC22A3, SLC22A2, SMPD2, SNRPC, SOD2, SOX4, SRF, SRPK1, SSR1, ELOVL4, TBXT, TAF11, MAP3K7, TAP1, TAP2, TAPBP, TBCC, TBP, TCF19, TCF21, TCP1, TCP10, TCP11, TCTE3, PPP1R11, DYNLT1, TEAD3, TFAP2A, TFAP2B, THBS2, NR2E1, TNF, TNFAIP3, TNXB, TRA-TGC7-1, TPBG, TPD52L1, TPMT, CRISP2, TRX-CAT1-2, TRX-CAT2-1, TRR-TCG4-1, TSPYL1, TTK, TUBB2A, TULP1, UTRN, VARS, VEGFA, EZR, VIP, ZNF76, ZNF165, TRIM26, ZNF184, ZSCAN26, ZKSCAN8, ZSCAN9, PTP4A1, DEK, ALDH5A1, PRRC2A, BAG6, GPANK1, DDX39B, ABHD16A, SLC39A7, HSD17B8, OR2H2, NELFE, LST1, PLA2G7, TFEB, RNF217-AS1, EPM2A, HIST1H4I, HIST1H2AI, HIST1H2AK, HIST1H2AJ, HIST1H2AL, HIST1H2AC, HIST1H2AB, HIST1H2AM, HIST1H2BG, HIST1H2BL, HIST1H2BN, HIST1H2BM, HIST1H2BF, HIST1H2BE, HIST1H2BH, HIST1H2BI, HIST1H2BC, HIST1H2BO, HIST1H3A, HIST1H3D, HIST1H3C, HIST1H3E, HIST1H3I, HIST1H3G, HIST1H3J, HIST1H3H, HIST1H3B, HIST1H4A, HIST1H4D, HIST1H4F, HIST1H4K, HIST1H4J, HIST1H4C, HIST1H4H, HIST1H4B, HIST1H4E, HIST1H4L, HIST1H4G, STX7, DHX16, SUPT3H, PEX3, GCM1, DDO, RNASET2, KCNK5, STX11, B3GALT4, SNX3, RNGTT, RIPK1, CD164, SYNGAP1, WISP3, STK19, IER3, SYNJ2, VNN2, VNN1, PRPF4B, WASF1, HIST1H3F, HIST1H2AG, HIST1H2BJ, RNF8, TAAR5, MAP7, TBX18, LATS1, GCM2, WDR46, ZBTB22, TAAR2, CD83, HMGN3, PPT2, CDYL, NCR2, MED23, QKI, LY86, FHL5, AKAP7, ATG5, MED20, SLC25A27, TBPL1, EEF1E1, BAG2, POLR1C, MAD2L1BP, WTAP, AKAP12, MDC1, TRAM2, KIAA0408, PHACTR2, RIPOR2, ZSCAN12, BCLAF1, CUL7, ZBTB24, KIAA0319, SNAP91, FIG4, NUP153, CASP8AP2, RANBP9, SLC17A4, UST, TRIM10, FLOT1, RCAN2, SLC17A2, PRSS16, CRISP3, TRDN, CITED2, BTN3A3, BTN2A2, ECI2, PFDN6, HMGN4, TRIM38, CAP2, SYNCRIP, UBD, AGPAT1, SLC35A1, SCGN, DNPH1, C6orf10, FARS2, FUT9, CNPY3, TRAF3IP2, HBS1L, SLC17A3, RPP40, FRS3, PDE10A, SLC22A7, HCP5, EHMT2, SMPDL3A, APOBEC2, PNRC1, ASCC3, RAB32, TRIM31, KATNA1, FGFR1OP, BTN3A2, BTN3A1, BTN2A1, CAPN11, BVES, NUDT3, SEC63, NRM, STK38, SCAF8, CEP162, ICK, ENPP4, ANKRD6, RIMS1, DOPEY1, ZNF292, CMTR1, CDK19, CUL9, TAB2, MDN1, TSPYL4, ANKS1A, UBR2, SASH1, SYNE1, UFL1, SIRT5, TRS-AGA2-3, PHF3, HEY2, DAAM2, BICRAL, TRS-TGA4-1, DDAH2, HEBP2, ORC3, CD2AP, MTCH1, ZNF318, SPDEF, MTO1, ASF1A, YIPF3, USP49, CCDC28A, MTHFD1L, PNISR, IBTK, MOXD1, IPCEF1, ZNF451, SENP6, OR2B6, TIAM2, FBXL4, FAM50B, FBXO9, FBXO5, SLC17A5, OR12D2, OR11A1, RGS17, OR2W1, OR2J2, OR2H1, SNORD50A, PDE7B, FILIP1, BRPF3, GNMT, TNFRSF21, SESN1, TINAG, DLL1, OSTM1, MRPS18B, TMEM14A, MRPL18, NDUFAF4, C6orf15, MYLIP, ABT1, DSE, PRICKLE4, PACSIN1, ZNRD1, CLDN20, NOX3, DEF6, C6orf48, SLC35B3, HDDC2, GMNN, MRPL2, TFB1M, CYB5R4, TUBE1, C6orf203, TBC1D7, NRN1, CYP39A1, CDC40, RWDD1, AIG1, NOL7, SNX9, FAM8A1, UBE2J1, DCDC2, ETV7, TMEM14C, VTA1, LGSN, TDP2, CUTA, PPIL1, MPC1, HECA, RAB23, COQ3, CLIC5, IL20RA, TREM2, TREM1, UNC93A, GFOD1, HMGCLL1, MTRF1L, CCHCR1, GTPBP2, AHI1, UHRF1BP1, ELOVL2, CDKAL1, PAK1IP1, RMND1, PHIP, SOBP, AKIRIN2, CENPQ, MRPS18A, MRPS10, LRRC1, PHF10, QRSL1, VNN3, TMEM63B, DDX43, FAM46A, CARMIL1, TBC1D22B, TMEM30A, EXOC2, SAYSD1, ERMARD, LMBRD1, TRERF1, ACOT13, ECHDC1, APOM, BTNL2, KCNQ5, TRIM39, AGPAT4, WRNIP1, DUSP22, TULP4, RARS2, HYMAI, PDSS2, GOPC, LYRM4, SMIM8, VARS2, ADGRG6, ARFGEF3, NHSL1, LYRM2, SNX14, MRS2, PLEKHG1, ARID1B, LRFN2, AARS2, XPO5, SERINC1, HACE1, FAM135A, TMEM181, ZBTB2, BEND3, KIAA1586, CPNE5, LSM2, C6orf47, LY6G5B, ABRACL, RRAGD, LY6G6D, ENPP5, PRDM13, PBOV1, BACH2, ELOVL5, TRMT11, SMAP1, ZFAND3, SLC22A23, BLOC1S5, MCUR1, GPSM3, FKBPL, KIF13A, PERP, SMOC2, POPDC3, ZSCAN31, ALDH8A1, C6orf106, MICAL1, MRPL14, DLK2, ULBP3, OR2A4, ARMT1, OGFRL1, FAM184A, ZDHHC14, ZNF322, MANEA, ADGB, TREML2, RPP21, ATAT1, FRMD1, CCDC170, MYCT1, ZKSCAN3, ULBP2, ULBP1, ZSCAN16, RNF39, SLC44A4, VWA7, MPIG6B, LY6G6C, LY6G5C, PRR3, KHDC1, PRRT1, EGFL8, GPR63, COL21A1, C6orf62, OR5V1, OR2B2, PPP1R14C, OR12D3, SPACA1, RNF146, TMEM14B, SF3B5, TAAR8, SH3BGRL2, RIOK1, TFAP2D, KCNK16, RSPH3, TTLL2, DTNBP1, ARMC2, FBXO30, RPF2, UQCC2, L3MBTL3, FAM120B, MCHR2, PGBD1, FAXC, FNDC1, TTBK1, GJA10, RTN4IP1, ADTRP, RSPO3, LRP11, LTV1, SERAC1, USP45, REPS1, HIST1H2AH, HIST1H2BK, PPIL4, PAQR8, SLC22A16, RRP36, LINC01621, KCNK17, ABCC10, TRIM15, KLC4, UBE3D, MLIP, MFSD4B, TJAP1, ARHGAP18, TRS-TGA2-1, POM121L2, SYTL3, FOXQ1, GTF3C6, MRAP2, RWDD2A, IL17F, MTFR2, SFT2D1, EFHC1, BTBD9, KLHL32, TMEM200A, ZBED9, CGAS, FOXP4, KLHDC3, NUS1, GINM1, SLC26A8, IL22RA2, MAS1L, SLC18B1, SLC16A10, IP6K3, TAGAP, RN7SK, TAF8, ADAT2, RIPPLY2, IRAK1BP1, CLVS2, TAAR9, TAAR1, STXBP5, NCOA7, HINT3, PACRG, B3GAT2, SDHAF4, CD109, RAET1E, PM20D2, SRSF12, C6orf141, HUS1B, TRIM40, DPCR1, NRSN1, ZC2HC1B, SNRNP48, CNKSR3, RAET1L, SAMD3, SLC2A12, MBOAT1, HDGFL1, PNLDC1, RNF217, NKAIN2, KHDC3L, CFAP206, LINC01600, CCDC167, PRSS35, LCA5, OLIG3, TXLNB, DACT2, C6orf118, PSORS1C1, PSORS1C2, PPP1R18, PTCRA, TCTE1, KHDRBS2, TRIM39-RPP21, TUBB, C6orf163, AK9, NT5DC1, CALHM4, ZUFSP, FAM162B, TBC1D32, BEND6, GSTA5, OPN5, ADGRF4, ADGRF5, TDRD6, SPATS1, C6orf223, RSPH9, LRRC73, OARD1, KIF6, TMEM217, FGD2, PI16, C6orf89, ARMC12, SMIM29, LEMD2, ZBTB9, ZBTB12, C6orf136, HIST1H2AA, KDM1B, RBM24, RNF182, PHACTR1, SMIM13, SYCP2L, PXDC1, HS3ST5, GPRC6A, RFX6, SLC35F1, FAM83B, ADGRF2, TSPO2, UNC5CL, KCTD20, PXT1, LHFPL5, SCUBE3, ZSCAN23, NKAPL, FAM217A, VGLL2, DEFB110, DEFB112, DEFB113, DEFB114, AFG1L, TMEM244, MMS22L, WDR27, CALHM5, MCM9, RNF144B, HIST1H2BA, SCML4, GPX6, SHPRH, NCR3, LY6G6F, OFCC1, MDGA1, ADGRF1, ZNF311, CEP57L1, PPIL6, DCBLD1, CAGE1, PRR18, HCG22, PNPLA1, TREML4, RPL7L1, TAAR6, SLC35D3, ZC3H12D, MYLK4, DPPA5, CLPSL1, TREML1, RSPH4A, ECT2L, EYS, ZNF391, ZFP57, TUBB2B, SLC35B2, C6orf52, NUP43, HCG26, C6orf58, RAET1G, KAAG1, GJB7, NHLRC1, ZKSCAN4, SNHG5, SUMO4, CENPW, SOGA3, CEP85L, C6orf120, THEMIS, PSMG4, SFTA2, CLPSL2, C6orf222, GLYATL3, GFRAL, LIN28B, C6orf183, SAMD5, IYD, MUC21, STMND1, MCCD1, SAPCD1, RAB44, LINC00951, CRIP3, KLHL31, TCP10L2, DEFB133, C6orf201, GTF2H5, ERVFRD-1, MIR206, MIR219A1, MIR30A, HCG17, C6orf226, TMEM151B, OOEP, CALHM6, LINC02487, OR2B3, OR2J3, OR14J1, OR10C1, PTCHD4, RFPL4B, MIR133B, KU-MEL-3, FAM229B, TRAF3IP2-AS1, CTAGE9, C6orf132, PPP1R3G, SNORD50B, METTL24, HULC, TMEM242, LOC729681, TMEM170B, MIR877, TRAPPC3L, KHDC1L, TSTD3, C6orf99, TOMM6, AIRN, ANKRD66, ERVH-3, SYNE1-AS1, SDIM1, SMLR1, LINC02539, MICA, MUC22, LOC101926915, LOC101927189
See casesPathogenic
(Dec 2, 2014)
no assertion criteria provided
64.
GRCh37:
Chr6:118490533-119281981
PLN, ASF1A, FAM184A, SLC35F1, MCM9, CEP85LSee casesUncertain significanceno assertion criteria provided
65.
GRCh37:
Chr6:85988428-120548687
See casesPathogenicno assertion criteria provided
66.
GRCh37:
Chr6:118723496-119070814
PLN, CEP85LSee casesUncertain significanceno assertion criteria provided
67.
GRCh37:
Chr6:118787404-119016237
PLN, CEP85LSee casesBenignno assertion criteria provided
68.
GRCh37:
Chr6:118757499-119071634
PLN, CEP85Lnot specifiedUncertain significance
(Jan 5, 2017)
no assertion criteria provided
69.
GRCh37:
Chr6:118787404-119016296
PLN, CEP85LSee casesUncertain significance
(Jan 20, 2016)
criteria provided, single submitter
70.
GRCh37:
Chr6:118879988-118881587
GRCh38:
Chr6:118558825-118560424
PLN, CEP85LDilated cardiomyopathy 1PUncertain significance
(Jul 31, 2016)
criteria provided, single submitter
71.
GRCh37:
Chr6:116681080-119775014
Delayed speech and language development, Microcephaly, Intellectual disability,
tremors
Pathogenicno assertion criteria provided
72.
GRCh37:
Chr6:117810940-119417749
PLN, ASF1A, GOPC, FAM184A, NUS1, SLC35F1, MCM9, DCBLD1, CEP85LAutistic behavior, Delayed speech and language development, Absence seizures
Pathogenicno assertion criteria provided
73.
GRCh37:
Chr6:100502765-120809300
GRCh38:
Chr6:100054889-120488154
See casesPathogenic
(Mar 4, 2013)
no assertion criteria provided
74.
GRCh37:
Chr6:106951594-126102365
GRCh38:
Chr6:106503719-125781219
See casesPathogenic
(Oct 1, 2010)
no assertion criteria provided
75.
GRCh37:
Chr6:117136362-120040041
GRCh38:
Chr6:116815199-119718887
See casesLikely pathogenic
(Mar 26, 2013)
no assertion criteria provided
76.
GRCh37:
Chr6:75092523-142361637
GRCh38:
Chr6:74382807-142040500
CRYBG1, AMD1, ARG1, BCKDHB, PRDM1, CCNC, CGA, CNR1, COL10A1, COL12A1, COX7A2, CTGF, EPB41L2, EPHA7, EYA4, FABP7, FOXO3, FRK, FYN, GABRR1, GABRR2, GJA1, GPR6, GRIK2, HDAC2, HSF2, HTR1B, HTR1E, IFNGR1, IMPG1, KPNA5, LAMA2, LAMA4, MARCKS, MAN1A1, ME1, MAP3K5, MYB, MYO6, NT5E, ENPP1, ENPP3, PEX7, PGM3, PLN, POU3F2, PREP, PKIB, PTPRK, REV3L, ROS1, RPS12, SGK1, SIM1, SMPD2, ELOVL4, MAP3K7, TCF21, NR2E1, TNFAIP3, TPBG, TPD52L1, TSPYL1, TTK, RNF217-AS1, STX7, DDO, SNX3, RNGTT, CD164, WISP3, VNN2, VNN1, WASF1, TAAR5, MAP7, TBX18, TAAR2, HMGN3, MED23, FHL5, AKAP7, ATG5, TBPL1, KIAA0408, BCLAF1, ZBTB24, SNAP91, FIG4, CASP8AP2, TRDN, CITED2, SYNCRIP, SLC35A1, FUT9, TRAF3IP2, HBS1L, SMPDL3A, PNRC1, ASCC3, BVES, SEC63, CEP162, ANKRD6, DOPEY1, ZNF292, CDK19, MDN1, TSPYL4, UFL1, HEY2, HEBP2, ORC3, ASF1A, CCDC28A, PNISR, IBTK, MOXD1, SENP6, FBXL4, SNORD50A, PDE7B, FILIP1, SESN1, OSTM1, NDUFAF4, DSE, HDDC2, CYB5R4, TUBE1, C6orf203, CDC40, RWDD1, UBE2J1, HECA, COQ3, IL20RA, AHI1, PHIP, SOBP, AKIRIN2, QRSL1, VNN3, FAM46A, TMEM30A, ECHDC1, RARS2, PDSS2, GOPC, SMIM8, ARFGEF3, NHSL1, LYRM2, SNX14, SERINC1, HACE1, BEND3, ABRACL, RRAGD, PRDM13, PBOV1, BACH2, TRMT11, LINC01590, PERP, POPDC3, ALDH8A1, MICAL1, OR2A4, FAM184A, MANEA, LCAL1, GPR63, SPACA1, RNF146, TAAR8, SH3BGRL2, ARMC2, RPF2, L3MBTL3, MCHR2, FAXC, GJA10, RTN4IP1, RSPO3, USP45, REPS1, SLC22A16, LINC01621, UBE3D, MFSD4B, ARHGAP18, GTF3C6, MRAP2, RWDD2A, MTFR2, KLHL32, TMEM200A, NUS1, IL22RA2, SLC18B1, SLC16A10, RIPPLY2, IRAK1BP1, CLVS2, TAAR9, TAAR1, NCOA7, HINT3, PM20D2, SRSF12, SAMD3, LINC01312, SLC2A12, LINC01010, RNF217, NKAIN2, CFAP206, BVES-AS1, PRSS35, LCA5, OLIG3, TXLNB, C6orf163, AK9, NT5DC1, CALHM4, ZUFSP, FAM162B, TBC1D32, HS3ST5, GPRC6A, RFX6, SLC35F1, VGLL2, AFG1L, TMEM244, MMS22L, CALHM5, MCM9, SCML4, LINC00326, CEP57L1, PPIL6, LINC01268, FLJ34503, DCBLD1, LOC285762, TAAR6, SLC35D3, RSPH4A, ECT2L, C6orf58, GJB7, SNHG5, CENPW, SOGA3, LINC00222, CEP85L, THEMIS, LIN28B, C6orf183, CALHM6, FLJ46906, RFPL4B, SNORD101, SNORD100, SNORA33, FAM229B, TSG1, LINC02523, TRAF3IP2-AS1, CTAGE9, LOC644135, LINC01625, SNORD50B, MIR548A2, MIR548B, MIR587, MIR588, MCHR2-AS1, METTL24, LIN28B-AS1, LOC100126584, TRAPPC3L, LOC100130476, TSTD3, LINC00271, FILNC1, CD24, TRE-CTC1-7, OSTM1-AS1, LOC100287467, HMGN3-AS1, NHEG1, MIR2113, LINC02532, MIR3144, MIR3145, MIR3668, MIR3662, LOC100506804, SMLR1, LINC01013, TARID, LINC02539, GVQW2, LOC100507477, MIR4464, MIR4643, MIR4465, MIR548AJ1, MIR548AI, MIR4463, MIR548H5, C6orf183, MANEA-AS1, LOC101927314, LOC101927365, LOC101927640, LINC02541, HDAC2-AS2, LOC101927919, TRDN-AS1, LOC101928140, LOC101928231, LOC101928304, LOC101928429, LOC101928461, LOC101928516, LOC101928540, MEI4, LINC01526, LINC02535, LOC101928911, LOC101928936, LOC101929057, CASC6, ARMC2-AS1, LOC102723649, LINC02542, TBX18-AS1, LOC103352541, NCOA7-AS1, LINC02540, LOC105377879, LINC01611, LOC105377924, LINC02526, LINC02527, LINC02518, LINC02534, LOC105377967, LOC105377975, LINC02528, LOC107986532, LINC02531
See casesPathogenic
(Jul 5, 2011)
no assertion criteria provided
77.
GRCh37:
Chr6:97057870-122482694
GRCh38:
Chr6:96609994-122161548
See casesPathogenic
(Aug 2, 2011)
no assertion criteria provided
78.
GRCh37:
Chr6:117928310-127021125
GRCh38:
Chr6:117607147-126699980
See casesPathogenic
(Oct 7, 2011)
no assertion criteria provided
79.
GRCh37:
Chr6:118830249-119925663
GRCh38:
Chr6:118509086-119604498
MAN1A1, PLN, ASF1A, FAM184A, MCM9, LOC285762, CEP85L, MIR548B, LOC105377975See casesUncertain significance
(Aug 12, 2011)
criteria provided, single submitter
80.
GRCh37:
Chr6:118711850-119057295
GRCh38:
Chr6:118390687-118736132
PLN, CEP85LSee casesUncertain significance
(Aug 12, 2011)
criteria provided, single submitter
81.
GRCh37:
Chr6:118551027-119044197
GRCh38:
Chr6:118229864-118723034
PLN, SLC35F1, CEP85LSee casesUncertain significance
(Aug 12, 2011)
criteria provided, single submitter
82.
GRCh37:
Chr6:115922394-128835469
GRCh38:
Chr6:115601230-128514324
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
83.
GRCh37:
Chr6:109266102-132388860
GRCh38:
Chr6:108944899-132067720
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
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