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Items: 6

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr5:54324085-55235525
GRCh38:
Chr5:55028257-55939697
See casesUncertain significance
(Oct 7, 2011)
no assertion criteria providedVCV000150391
2.
GRCh37:
Chr5:22149-73708550
GRCh38:
Chr5:22149-74412725
ERBIN, ANKH, CCL28, PRDM9, NLN, AHRR, ZSWIM6, ANKRA2, GOLPH3, MCCC2, CENPK, ARHGEF28, TMEM267, AGXT2, SLC30A5, CENPH, MRPL36, GPBP1, CPLANE1, BRD9, FASTKD3, IRX1, PARP8, ANKRD55, PTCD2, ZDHHC11, LPCAT1, SPEF2, ELOVL7, TRAPPC13, CLPTM1L, ADAMTS12, ROPN1L, UTP15, MED10, CARD6, NKD2, OTULIN, ZNF622, NDUFAF2, LMBRD2, MRPS36, SNX18, C1QTNF3, FCHO2, RAB3C, EXOC3-AS1, SETD9, IL31RA, EMB, MROH2B, EGFLAM, NADK2, UGT3A1, CAPSL, CCDC127, UBE2QL1, C5orf49, ATPSCKMT, CMBL, DNAJC21, TMEM171, TMEM174, SREK1, SLC38A9, PLEKHG4B, MARVELD2, C5orf38, IRX2, TTC23L, LOC153684, MIER3, CDC20B, UGT3A2, NIM1K, ZNF366, ADAMTS16, RANBP3L, CCDC125, GAPT, RICTOR, LINC01018, LOC257396, LINC01019, C5orf51, C5orf64, RNF180, SREK1IP1, LINC02112, BASP1-AS1, SLC6A19, LOC340090, LINC01020, LINC02239, LINC02120, PLCXD3, MCIDAS, ACTBL2, SLC6A18, HCN1, C5orf34, MAST4, LRRC14B, LINC02213, ANXA2R, H3.Y, LINC02145, LOC401176, LINC02111, RGS7BP, LINC01194, C5orf17, MARCHF11, FLJ31104, GPX8, MIR449A, SNORD72, LOC642366, SMIM15, PURPL, FLJ32255, LINC02223, NIPBL-DT, LOC648987, ANKRD33B, ZDHHC11B, MIR449B, MIR579, MIR580, MIR581, MIR582, GTF2H2C, SERF1B, LINC02226, SNORD123, MIR887, CCDC152, LRRC70, LOC100130744, LOC100132356, SHISAL2B, LOC100272216, LINC02106, SLC9A3-AS1, MIR449C, MIR4279, MIR4277, MIR4278, MIR3650, LINC02102, MIR4458HG, SNHG18, ROPN1L-AS1, LOC100506406, EGFLAM-AS2, LIFR-AS1, C5orf64-AS1, LOC100506548, LOC100506639, OCLN, MRPS30-DT, LOC100506688, LINC01511, LOC100506858, C1QTNF3-AMACR, MIR4458, MIR4804, MIR4459, MIR4457, MIR4637, MIR4636, MIR548AE2, MIR4803, MIR4456, MIR4635, NNT-AS1, MIR5687, EGFLAM-AS4, GDNF-AS1, OXCT1-AS1, LOC100996325, LINCR-0003, IPO11-LRRC70, LSINCT5, LINC01265, LINC02104, LOC101926960, FGF10-AS1, C5orf67, LOC101928505, LINC02225, LINC02101, LINC02108, SMIM15-AS1, LOC101928651, LINC02065, LINC02229, MAST4-AS1, CTD-3080P12.3, LOC101928858, LINC02198, LOC101928924, LINC02116, CTD-2194D22.4, LINC01333, LINC02114, CTD-2297D10.2, LINC02123, LINC02199, SEMA5A-AS1, LINC02212, LINC02149, CTD-2350J17.1, LINC02150, LOC101929524, LINC02217, LOC101929645, LINC02109, LINC02064, LINC02119, OSMR-AS1, AK6, MIR6131, MIR6075, HRAT5, LINC01377, LINC01017, LINC00603, LOC102467080, LOC102467081, LINC01948, LINC02219, LINC02056, LOC102503427, LINC01335, LINC02218, LINC02224, LINC02197, CDH18-AS1, LINC01331, LINC01033, LINC01386, LOC105374620, LINC02162, LINC02063, LINC02121, LINC02142, LINC02221, LINC02220, LINC02241, LINC02146, LINC02211, LINC02228, LINC02103, LOC105374704, LINC02061, LINC02160, LOC105374727, LINC02110, LINC02107, LINC02118, LINC02105, LOC105378979, LINC02057, LINC02242, LOC105379030, LINC02230, LINC02122, LINC01157, LOC106029242, CREST1, CREST2, CREST3, SNORA105A, SNORD141B, LOC107457585, LOC107758904, LOC107963949, LOC107963950, LOC108175340, LOC108175341, LOC108251796, LOC108254683, LOC108281130, LOC108281172, LOC108348025, FGF10-INT1, LOC109286569, SNORA50D, SNORD13B-1, SNORD13B-2, SNORD170, LINC02236, LOC110120635, LOC110120690, LOC110120695, LOC110120697, LOC110120712, LOC110120713, LOC110120722, LOC110120760, LOC110121020, LOC110121055, LOC110121060, LOC110121170, LOC110806263, LOC110806264, MNS16A, LOC111089946, LOC111365172, LOC111365215, LOC111501791, LOC111556106, LOC111556114, LOC111556121, LOC111828522, SHLD3, LOC112997548, LOC112997549, LOC112997550, LOC112997551, LOC112997585, LOC112997586, LOC112997587, LOC112997588, LOC112997589, LOC112997590, LOC112997591, LOC112997592, LOC112997593, LOC112997594, LOC112997595, LOC112997596, LOC113002585, LOC113002586, LOC113002587, LOC113002588, LOC113002589, LOC113002590, LOC113002591, MIR10522, MIR10397, LOC114004392, LOC114004393, LOC114004394, LOC114803477, LOC114827820, LOC114827841, ADCY2, TRIM23, BTF3, C6, C7, C9, CCNB1, CDH6, CDH9, CDH10, CDH12, CDH18, CDK7, ERCC8, CTNND2, DAB2, DAP, DNAH5, FGF10, FOXD1, FYB1, GDNF, GHR, GTF2H2, GZMA, GZMK, HMGCS1, HTR1A, IL6ST, IL7R, ISL1, ITGA1, ITGA2, KIF2A, TNPO1, LIFR, CD180, MAP1B, MAP3K1, MOCS2, MTRR, MYO10, NAIP, NDUFS4, NDUFS6, NPR3, OXCT1, PDE4D, PIK3R1, PRKAA1, PRLR, PTGER4, RAD1, RAD17, RPL37, SDHA, SELENOP, SKP2, SLC1A3, SLC6A3, SLC9A3, SMN1, SMN2, SRD5A1, TAF9, TARS, TERT, TRIO, ZNF131, SERF1A, PLPP1, HSPB3, SEMA5A, OSMR, TRIP13, CARTPT, NUP155, PDCD6, CWC27, MARCHF6, CCNO, BASP1, FST, PAIP1, SLC12A7, PLK2, MRPS30, SUB1, TENT4A, TPPP, ESM1, ADAMTS6, EXOC3, CCT5, PDZD2, MRPS27, FBXL7, ICE1, PPWD1, MTREX, NNT, TTC33, AMACR, NIPBL, PP7080, PART1, RAI14, FBXO4, DIMT1, DROSHA, IRX4, TAS2R1, SLC45A2, IPO11, RXFP3, ZFR, PELO, RETREG1, OTULINL, DHX29, DDX4, MTMR12, SGTB, ARL15, NSUN2, WDR70, BRIX1, C5orf22, CEP72, DEPDC1B, BDP1
See casesPathogenic
(Sep 21, 2012)
no assertion criteria providedVCV000149824
3.
GRCh37:
Chr5:45566963-55802320
GRCh38:
Chr5:45566861-56506493
See casesUncertain significance
(Jan 13, 2012)
no assertion criteria providedVCV000148959
4.
GRCh37:
Chr5:35201661-61198968
GRCh38:
Chr5:35201559-61903141
C6, C7, C9, ERCC8, DAB2, FGF10, FYB1, GDNF, GHR, GZMA, GZMK, HMGCS1, IL6ST, IL7R, ISL1, ITGA1, ITGA2, LIFR, MAP3K1, MOCS2, NDUFS4, OXCT1, PDE4D, PRKAA1, PRLR, PTGER4, RPL37, SELENOP, SKP2, SLC1A3, ZNF131, PLPP1, HSPB3, OSMR, NUP155, CCNO, FST, PAIP1, PLK2, MRPS30, ESM1, MTREX, NNT, TTC33, NIPBL, PART1, FBXO4, PELO, DHX29, DDX4, ARL15, WDR70, DEPDC1B, CCL28, ZSWIM6, TMEM267, GPBP1, CPLANE1, PARP8, ANKRD55, SPEF2, ELOVL7, CARD6, NDUFAF2, LMBRD2, SNX18, RAB3C, SETD9, IL31RA, EMB, MROH2B, EGFLAM, NADK2, UGT3A1, CAPSL, SLC38A9, LOC153684, MIER3, CDC20B, UGT3A2, NIM1K, RANBP3L, GAPT, RICTOR, LOC257396, C5orf51, C5orf64, PLCXD3, MCIDAS, ACTBL2, HCN1, C5orf34, ANXA2R, FLJ31104, GPX8, MIR449A, SNORD72, LOC642366, SMIM15, FLJ32255, NIPBL-DT, LOC648987, MIR449B, MIR580, MIR581, MIR582, CCDC152, LOC100132356, LINC02106, MIR449C, MIR3650, LOC100506406, EGFLAM-AS2, LIFR-AS1, C5orf64-AS1, LOC100506548, LOC100506639, MRPS30-DT, MIR4459, MIR548AE2, NNT-AS1, MIR5687, EGFLAM-AS4, GDNF-AS1, OXCT1-AS1, LINCR-0003, LINC01265, LINC02104, LOC101926960, FGF10-AS1, C5orf67, LOC101928505, LINC02225, LINC02101, LINC02108, SMIM15-AS1, LOC101928651, LINC02119, OSMR-AS1, LINC00603, LOC102467080, LOC102467081, LINC01948, LINC02224, LINC01033, LOC105374727, LINC02110, LINC02107, LINC02118, LINC02105, LOC105378979, LINC02057, LOC106029242, CREST1, CREST2, CREST3, LOC107963949, LOC107963950, LOC108281172, LOC108348025, FGF10-INT1, LOC109286569, LOC110120690, LOC110120697, LOC110120712, LOC110121020, LOC110121055, LOC110121170, LOC111365172, LOC111365215, LOC111501791, LOC111556114, LOC111556121, LOC112997589, LOC112997590, LOC112997591, LOC112997592, LOC112997594, LOC112997595, LOC112997596, LOC113002585, LOC114004392, LOC114004393, LOC114004394
See casesPathogenic
(May 6, 2011)
no assertion criteria providedVCV000148227
5.
GRCh37:
Chr5:49757934-55158813
GRCh38:
Chr5:50462100-55862985
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000059608
6.
GRCh37:
Chr5:49584189-62445597
GRCh38:
Chr5:50288355-63149770
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000057149
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