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VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr5:22149-21726469
GRCh38:
Chr5:22149-21726360
ADAMTS16, ADAMTS16-DT, ADCY2, AHRR, ANKH, ANKRD33B, ATPSCKMT, BASP1, BASP1-AS1, BRD9, C5orf38, C5orf49, CCDC127, CCT5, CDH18, CDH18-AS1, CEP72, CEP72-DT, CLPTM1L, CMBL, CTD-2194D22.4, CTD-2350J17.1, CTD-3080P12.3, CTNND2, DAP, DAP-DT, DNAH5, EXOC3, EXOC3-AS1, FASTKD3, FBXL7, H3Y1, H3Y2, ICE1, IRX1, IRX2, IRX4, IRX4-AS1, LINC01017, LINC01018, LINC01019, LINC01020, LINC01194, LINC01377, LINC01511, LINC02063, LINC02102, LINC02111, LINC02112, LINC02114, LINC02116, LINC02121, LINC02123, LINC02142, LINC02145, LINC02146, LINC02149, LINC02150, LINC02162, LINC02199, LINC02212, LINC02213, LINC02217, LINC02218, LINC02220, LINC02221, LINC02223, LINC02226, LINC02236, LINC02241, LOC100130744, LOC100506688, LOC100506858, LOC105374618, LOC105374620, LOC107457585, LOC107758904, LOC108251796, LOC108254683, LOC110120635, LOC110120695, LOC110120713, LOC110120722, LOC110120760, LOC110121060, LOC110806263, LOC110806264, LOC111828522, LOC112997548, LOC112997549, LOC112997550, LOC112997551, LOC112997585, LOC112997586, LOC112997587, LOC112997593, LOC113002586, LOC113002587, LOC114827841, LOC116158511, LOC116158512, LOC121056758, LOC121056759, LOC121056760, LOC121056761, LOC121725197, LOC121725198, LPCAT1, LRRC14B, LSINCT5, MARCHF11, MARCHF11-DT, MARCHF6, MED10, MIR10397, MIR10522, MIR4277, MIR4278, MIR4456, MIR4457, MIR4458, MIR4458HG, MIR4635, MIR4636, MIR4637, MIR6075, MIR6131, MIR887, MNS16A, MRPL36, MTRR, MYO10, NDUFS6, NKD2, NSUN2, OTULIN, OTULIN-DT, OTULINL, PDCD6, PDCD6-AHRR, PDCD6-DT, PLEKHG4B, PP7080, RETREG1, RETREG1-AS1, ROPN1L, ROPN1L-AS1, SDHA, SEMA5A, SEMA5A-AS1, SLC12A7, SLC6A18, SLC6A19, SLC6A3, SLC9A3, SLC9A3-AS1, SNHG18, SNORD123, SNORD141B, SNORD170, SRD5A1, TAS2R1, TENT4A, TERT, TPPP, TRIO, TRIP13, UBE2QL1, ZDHHC11, ZDHHC11B, ZNF622
See casesPathogenic
(Aug 13, 2012)
no assertion criteria providedVCV000154955
2.
GRCh37:
Chr5:22149-27611270
GRCh38:
Chr5:22149-27611163
ADAMTS16, ADAMTS16-DT, ADCY2, AHRR, ANKH, ANKRD33B, ATPSCKMT, BASP1, BASP1-AS1, BRD9, C5orf38, C5orf49, CCDC127, CCT5, CDH10, CDH12, CDH18, CDH18-AS1, CDH9, CEP72, CEP72-DT, CLPTM1L, CMBL, CTD-2194D22.4, CTD-2350J17.1, CTD-3080P12.3, FASTKD3, CTNND2, DAP, DAP-DT, DNAH5, EXOC3, EXOC3-AS1, FBXL7, H3Y1, H3Y2, ICE1, IRX1, IRX2, IRX4, IRX4-AS1, LINC01017, LINC01018, LINC01019, LINC01020, LINC01194, LINC01377, LINC01511, LINC02063, LINC02102, LINC02111, LINC02112, LINC02114, LINC02116, LINC02121, LINC02123, LINC02142, LINC02145, LINC02146, LINC02149, LINC02150, LINC02162, LINC02199, LINC02211, LINC02212, LINC02213, LINC02217, LINC02218, LINC02220, LINC02221, LINC02223, LINC02226, LINC02228, LINC02236, LINC02239, LINC02241, LINC02899, LOC100130744, LOC100506688, LOC100506858, LOC105374618, LOC105374620, LOC107457585, LOC107758904, LOC108175340, LOC108175341, LOC108251796, LOC108254683, LOC110120635, LOC110120695, LOC110120713, LOC110120722, LOC110120760, LOC110121060, LOC110806263, LOC110806264, LOC111828522, LOC112997548, LOC112997549, LOC112997550, LOC112997551, LOC112997585, LOC112997586, LOC112997587, LOC112997593, LOC113002586, LOC113002587, LOC114827841, LOC116158511, LOC116158512, LOC121056758, LOC121056759, LOC121056760, LOC121056761, LOC121725197, LOC121725198, LPCAT1, LRRC14B, LSINCT5, MARCHF11, MARCHF11-DT, MARCHF6, MED10, MIR10397, MIR10522, MIR4277, MIR4278, MIR4456, MIR4457, MIR4458, MIR4458HG, MIR4635, MIR4636, MIR4637, MIR6075, MIR6131, MIR887, MNS16A, MRPL36, MTRR, MYO10, NDUFS6, NKD2, NSUN2, OTULIN, OTULIN-DT, OTULINL, PDCD6, PDCD6-AHRR, PDCD6-DT, PLEKHG4B, PP7080, PRDM9, PURPL, RETREG1, RETREG1-AS1, ROPN1L, ROPN1L-AS1, SDHA, SEMA5A, SEMA5A-AS1, SLC12A7, SLC6A18, SLC6A19, SLC6A3, SLC9A3, SLC9A3-AS1, SNHG18, SNORA105A, SNORD123, SNORD141B, SNORD170, SRD5A1, TAS2R1, TENT4A, TERT, TPPP, TRIO, TRIP13, UBE2QL1, ZDHHC11, ZDHHC11B, ZNF622
See casesPathogenic
(Aug 13, 2012)
no assertion criteria providedVCV000154867
3.
GRCh37:
Chr5:22149-26594000
GRCh38:
Chr5:22149-26593891
ADAMTS16, ADAMTS16-DT, ADCY2, AHRR, ANKH, ANKRD33B, ATPSCKMT, BASP1, BASP1-AS1, BRD9, C5orf38, C5orf49, CCDC127, CCT5, CDH10, CDH12, CDH18, CDH18-AS1, CEP72, CEP72-DT, CLPTM1L, CMBL, CTD-2194D22.4, CTD-2350J17.1, CTD-3080P12.3, CTNND2, DAP, DAP-DT, DNAH5, EXOC3, EXOC3-AS1, FASTKD3, FBXL7, H3Y1, H3Y2, ICE1, IRX1, IRX2, IRX4, IRX4-AS1, LINC01017, LINC01018, LINC01019, LINC01020, LINC01194, LINC01377, LINC01511, LINC02063, LINC02102, LINC02111, LINC02112, LINC02114, LINC02116, LINC02121, LINC02123, LINC02142, LINC02145, LINC02146, LINC02149, LINC02150, LINC02162, LINC02199, LINC02211, LINC02212, LINC02213, LINC02217, LINC02218, LINC02220, LINC02221, LINC02223, LINC02226, LINC02228, LINC02236, LINC02239, LINC02241, LINC02899, LOC100130744, LOC100506688, LOC100506858, LOC105374618, LOC105374620, LOC107457585, LOC107758904, LOC108175340, LOC108175341, LOC108251796, LOC108254683, LOC110120635, LOC110120695, LOC110120713, LOC110120722, LOC110120760, LOC110121060, LOC110806263, LOC110806264, LOC111828522, LOC112997548, LOC112997549, LOC112997550, LOC112997551, LOC112997585, LOC112997586, LOC112997587, LOC112997593, LOC113002586, LOC113002587, LOC114827841, LOC116158511, LOC116158512, LOC121056758, LOC121056759, LOC121056760, LOC121056761, LOC121725197, LOC121725198, LPCAT1, LRRC14B, LSINCT5, MARCHF11, MARCHF11-DT, MARCHF6, MED10, MIR10397, MIR10522, MIR4277, MIR4278, MIR4456, MIR4457, MIR4458, MIR4458HG, MIR4635, MIR4636, MIR4637, MIR6075, MIR6131, MIR887, MNS16A, MRPL36, MTRR, MYO10, NDUFS6, NKD2, NSUN2, OTULIN, OTULIN-DT, OTULINL, PDCD6, PDCD6-AHRR, PDCD6-DT, PLEKHG4B, PP7080, PRDM9, RETREG1, RETREG1-AS1, ROPN1L, ROPN1L-AS1, SDHA, SEMA5A, SEMA5A-AS1, SLC12A7, SLC6A18, SLC6A19, SLC6A3, SLC9A3, SLC9A3-AS1, SNHG18, SNORA105A, SNORD123, SNORD141B, SNORD170, SRD5A1, TAS2R1, TENT4A, TERT, TPPP, TRIO, TRIP13, UBE2QL1, ZDHHC11, ZDHHC11B, ZNF622
See casesPathogenic
(Dec 22, 2010)
no assertion criteria providedVCV000154578
4.
GRCh37:
Chr5:22149-28589299
GRCh38:
Chr5:22149-28589192
ADAMTS16, ADAMTS16-DT, ADCY2, AHRR, ANKH, ANKRD33B, ATPSCKMT, BASP1, BASP1-AS1, BRD9, C5orf38, C5orf49, CCDC127, CCT5, CDH10, CDH12, CDH18, CDH18-AS1, CDH9, CEP72, CEP72-DT, CLPTM1L, CMBL, CTD-2194D22.4, CTD-2350J17.1, CTD-3080P12.3, CTNND2, DAP, DAP-DT, DNAH5, EXOC3, EXOC3-AS1, FASTKD3, FBXL7, H3Y1, H3Y2, ICE1, IRX1, IRX2, IRX4, IRX4-AS1, LINC01017, LINC01018, LINC01019, LINC01020, LINC01194, LINC01377, LINC01511, LINC02063, LINC02102, LINC02103, LINC02111, LINC02112, LINC02114, LINC02116, LINC02121, LINC02123, LINC02142, LINC02145, LINC02146, LINC02149, LINC02150, LINC02162, LINC02199, LINC02211, LINC02212, LINC02213, LINC02217, LINC02218, LINC02220, LINC02221, LINC02223, LINC02226, LINC02228, LINC02236, LINC02239, LINC02241, LINC02899, LOC100130744, LOC100506688, LOC100506858, LOC105374618, LOC105374620, LOC107457585, LOC107758904, LOC108175340, LOC108175341, LOC108251796, LOC108254683, LOC110120635, LOC110120695, LOC110120713, LOC110120722, LOC110120760, LOC110121060, LOC110806263, LOC110806264, LOC111828522, LOC112997548, LOC112997549, LOC112997550, LOC112997551, LOC112997585, LOC112997586, LOC112997587, LOC112997593, LOC113002586, LOC113002587, LOC114827841, LOC116158511, LOC116158512, LOC121056758, LOC121056759, LOC121056760, LOC121056761, LOC121725197, LOC121725198, LPCAT1, LRRC14B, LSINCT5, MARCHF11, MARCHF11-DT, MARCHF6, MED10, MIR10397, MIR10522, MIR4277, MIR4278, MIR4456, MIR4457, MIR4458, MIR4458HG, MIR4635, MIR4636, MIR4637, MIR6075, MIR6131, MIR887, MNS16A, MRPL36, MTRR, MYO10, NDUFS6, NKD2, NSUN2, OTULIN, OTULIN-DT, OTULINL, PDCD6, PDCD6-AHRR, PDCD6-DT, PLEKHG4B, PP7080, PRDM9, PURPL, RETREG1, RETREG1-AS1, ROPN1L, ROPN1L-AS1, SDHA, SEMA5A, SEMA5A-AS1, SLC12A7, SLC6A18, SLC6A19, SLC6A3, SLC9A3, SLC9A3-AS1, SNHG18, SNORA105A, SNORD123, SNORD141B, SNORD170, SRD5A1, TAS2R1, TENT4A, TERT, TPPP, TRIO, TRIP13, UBE2QL1, ZDHHC11, ZDHHC11B, ZNF622
See casesPathogenic
(Sep 26, 2012)
no assertion criteria providedVCV000152692
5.
GRCh37:
Chr5:22149-16930125
GRCh38:
Chr5:22149-16930016
ROPN1L, ROPN1L-AS1, SDHA, SEMA5A, SEMA5A-AS1, SLC12A7, SLC6A18, SLC6A19, SLC6A3, SLC9A3, SLC9A3-AS1, SNHG18, SNORD123, SNORD141B, SNORD170, SRD5A1, TAS2R1, TENT4A, TERT, TPPP, TRIO, TRIP13, UBE2QL1, ZDHHC11, ZDHHC11B, ZNF622, ADAMTS16, ADAMTS16-DT, ADCY2, AHRR, ANKH, ANKRD33B, ATPSCKMT, BRD9, C5orf38, C5orf49, CCDC127, CCT5, CEP72, CEP72-DT, CLPTM1L, CMBL, CTD-2194D22.4, CTD-2350J17.1, CTD-3080P12.3, FASTKD3, CTNND2, DAP, DAP-DT, DNAH5, EXOC3, EXOC3-AS1, FBXL7, ICE1, IRX1, IRX2, IRX4, IRX4-AS1, LINC01017, LINC01018, LINC01019, LINC01020, LINC01194, LINC01377, LINC01511, LINC02063, LINC02102, LINC02112, LINC02114, LINC02116, LINC02121, LINC02123, LINC02142, LINC02145, LINC02149, LINC02150, LINC02162, LINC02199, LINC02212, LINC02213, LINC02220, LINC02221, LINC02226, LINC02236, LOC100130744, LOC100506688, LOC100506858, LOC105374618, LOC105374620, LOC107457585, LOC107758904, LOC108251796, LOC110120635, LOC110120695, LOC110120713, LOC110120722, LOC110120760, LOC110121060, LOC110806263, LOC110806264, LOC111828522, LOC112997548, LOC112997549, LOC112997550, LOC112997551, LOC112997586, LOC112997593, LOC113002586, LOC113002587, LOC114827841, LOC116158511, LOC116158512, LOC121056758, LOC121056759, LOC121056760, LOC121725197, LOC121725198, LPCAT1, LRRC14B, LSINCT5, MARCHF11, MARCHF11-DT, MARCHF6, MED10, MIR10397, MIR4277, MIR4278, MIR4456, MIR4457, MIR4458, MIR4458HG, MIR4635, MIR4636, MIR4637, MIR6075, MIR6131, MIR887, MNS16A, MRPL36, MTRR, MYO10, NDUFS6, NKD2, NSUN2, OTULIN, OTULIN-DT, OTULINL, PDCD6, PDCD6-AHRR, PDCD6-DT, PLEKHG4B, PP7080, RETREG1, RETREG1-AS1
See casesPathogenic
(Dec 3, 2012)
no assertion criteria providedVCV000152423
6.
GRCh37:
Chr5:22149-35831640
GRCh38:
Chr5:22149-35831538
TPPP, TRIO, TRIP13, TTC23L, TTC23L-AS1, UBE2QL1, ZDHHC11, ZDHHC11B, ZFR, ZNF622, ADAMTS12, ADAMTS16, ADAMTS16-DT, ADCY2, AGXT2, AHRR, AMACR, ANKH, ANKRD33B, ATPSCKMT, BASP1, BASP1-AS1, BRD9, BRIX1, C1QTNF3, C1QTNF3-AMACR, C5orf22, C5orf38, C5orf49, CCDC127, CCT5, CDH10, CDH12, CDH18, CDH18-AS1, CDH6, CDH9, CEP72, CEP72-DT, CLPTM1L, CMBL, CTD-2194D22.4, CTD-2350J17.1, CTD-3080P12.3, CTNND2, DAP, DAP-DT, DNAH5, DNAJC21, DROSHA, EXOC3, EXOC3-AS1, FASTKD3, FBXL7, GOLPH3, H3Y1, H3Y2, ICE1, IRX1, IRX2, IRX4, IRX4-AS1, LINC01017, LINC01018, LINC01019, LINC01020, LINC01194, LINC01377, LINC01511, LINC02061, LINC02063, LINC02064, LINC02102, LINC02103, LINC02109, LINC02111, LINC02112, LINC02114, LINC02116, LINC02120, LINC02121, LINC02123, LINC02142, LINC02145, LINC02146, LINC02149, LINC02150, LINC02160, LINC02162, LINC02199, LINC02211, LINC02212, LINC02213, LINC02217, LINC02218, LINC02220, LINC02221, LINC02223, LINC02226, LINC02228, LINC02236, LINC02239, LINC02241, LINC02899, LOC100130744, LOC100506688, LOC100506858, LOC101929645, LOC105374618, LOC105374620, LOC105374704, LOC107457585, LOC107758904, LOC108175340, LOC108175341, LOC108251796, LOC108254683, LOC108281130, LOC110120635, LOC110120695, LOC110120713, LOC110120722, LOC110120760, LOC110121060, LOC110806263, LOC110806264, LOC111828522, LOC112997548, LOC112997549, LOC112997550, LOC112997551, LOC112997585, LOC112997586, LOC112997587, LOC112997588, LOC112997593, LOC113002586, LOC113002587, LOC114803477, LOC114827820, LOC114827841, LOC116158511, LOC116158512, LOC121056758, LOC121056759, LOC121056760, LOC121056761, LOC121725197, LOC121725198, LOC121725199, LOC121725200, LPCAT1, LRRC14B, LSINCT5, MARCHF11, MARCHF11-DT, MARCHF6, MED10, MIR10397, MIR10522, MIR4277, MIR4278, MIR4279, MIR4456, MIR4457, MIR4458, MIR4458HG, MIR4635, MIR4636, MIR4637, MIR579, MIR6075, MIR6131, MIR887, MNS16A, MRPL36, MTMR12, MTRR, MYO10, NDUFS6, NKD2, NPR3, NSUN2, OTULIN, OTULIN-DT, OTULINL, PDCD6, PDCD6-AHRR, PDCD6-DT, PDZD2, PLEKHG4B, PP7080, PRDM9, PRLR, PURPL, RAD1, RAI14, RAI14-DT, RETREG1, RETREG1-AS1, ROPN1L, ROPN1L-AS1, RXFP3, SDHA, SEMA5A, SEMA5A-AS1, SLC12A7, SLC45A2, SLC6A18, SLC6A19, SLC6A3, SLC9A3, SLC9A3-AS1, SNHG18, SNORA105A, SNORD123, SNORD141B, SNORD170, SPEF2, SRD5A1, SUB1, TARS1, TAS2R1, TENT4A, TERT
See casesPathogenic
(Jul 2, 2012)
no assertion criteria providedVCV000149959
7.
GRCh37:
Chr5:22149-73708550
GRCh38:
Chr5:22149-74412725
ACTBL2, ADAMTS12, ADAMTS16, ADAMTS16-DT, ADAMTS6, ADCY2, AGXT2, AHRR, AK6, AMACR, ANKH, ANKRA2, ANKRD33B, ANKRD55, ANXA2R, ARHGEF28, ARL15, ATPSCKMT, BASP1, BASP1-AS1, BDP1, BRD9, BRIX1, BTF3, C1QTNF3, C1QTNF3-AMACR, C5orf22, C5orf34, C5orf34-AS1, C5orf38, C5orf49, C5orf64, C5orf64-AS1, C5orf67, C6, C7, C9, CAPSL, CARD6, CARTPT, CCDC125, CCDC127, CCDC152, CCL28, CCNB1, CCNO, CCT5, CD180, CDC20B, CDH10, CDH12, CDH18, CDH18-AS1, CDH6, CDH9, CDK7, CENPH, CENPK, CEP72, CEP72-DT, CLPTM1L, CMBL, CPLANE1, CREST1, CREST2, CREST3, CTD-2194D22.4, CTD-2350J17.1, CTD-3080P12.3, CTNND2, CWC27, DAB2, DAP, DAP-DT, DDX4, DEPDC1B, DHX29, DIMT1, DNAH5, DNAJC21, DROSHA, EGFLAM, EGFLAM-AS1, EGFLAM-AS2, EGFLAM-AS4, ELOVL7, EMB, ERBIN, ERCC8, ERCC8-AS1, ESM1, EXOC3, EXOC3-AS1, FASTKD3, FBXL7, FBXO4, FCHO2, FGF10, FGF10-AS1, FGF10-INT1, FLJ32255, FOXD1, FST, FYB1, GAPT, GDNF, GDNF-AS1, GHR, GOLPH3, GPBP1, GPX8, GTF2H2, GTF2H2C, GZMA, GZMK, H3Y1, H3Y2, HCN1, HMGCS1, HSPB3, HTR1A, ICE1, IL31RA, IL6ST, IL6ST-DT, IL7R, IPO11, IPO11-LRRC70, IRX1, IRX2, IRX4, IRX4-AS1, ISL1, ISL1-DT, ITGA1, ITGA2, KIF2A, LIFR, LIFR-AS1, LINC00603, LINC00604, LINC01017, LINC01018, LINC01019, LINC01020, LINC01033, LINC01157, LINC01194, LINC01265, LINC01331, LINC01333, LINC01335, LINC01377, LINC01386, LINC01511, LINC01948, LINC02056, LINC02057, LINC02061, LINC02063, LINC02064, LINC02065, LINC02101, LINC02102, LINC02103, LINC02104, LINC02105, LINC02106, LINC02107, LINC02108, LINC02109, LINC02110, LINC02111, LINC02112, LINC02114, LINC02116, LINC02118, LINC02119, LINC02120, LINC02121, LINC02122, LINC02123, LINC02142, LINC02145, LINC02146, LINC02149, LINC02150, LINC02160, LINC02162, LINC02197, LINC02198, LINC02199, LINC02211, LINC02212, LINC02213, LINC02217, LINC02218, LINC02219, LINC02220, LINC02221, LINC02223, LINC02224, LINC02225, LINC02226, LINC02228, LINC02229, LINC02230, LINC02236, LINC02239, LINC02241, LINC02242, LINC02899, LINCR-0003, LMBRD2, LOC100130744, LOC100132356, LOC100272216, LOC100506406, LOC100506548, LOC100506639, LOC100506688, LOC100506858, LOC101926960, LOC101928505, LOC101928651, LOC101928858, LOC101928924, LOC101929645, LOC102467080, LOC102467081, LOC102503427, LOC105374618, LOC105374620, LOC105374704, LOC105374727, LOC105378979, LOC105379030, LOC106029242, LOC107457585, LOC107758904, LOC107963949, LOC107963950, LOC108175340, LOC108175341, LOC108251796, LOC108254683, LOC108281130, LOC108281172, LOC108348025, LOC109286569, LOC110120635, LOC110120690, LOC110120695, LOC110120697, LOC110120712, LOC110120713, LOC110120722, LOC110120760, LOC110121020, LOC110121055, LOC110121060, LOC110121170, LOC110806263, LOC110806264, LOC111089946, LOC111365172, LOC111365215, LOC111501791, LOC111556106, LOC111556114, LOC111556121, LOC111828522, LOC112997548, LOC112997549, LOC112997550, LOC112997551, LOC112997585, LOC112997586, LOC112997587, LOC112997588, LOC112997589, LOC112997590, LOC112997591, LOC112997592, LOC112997593, LOC112997594, LOC112997595, LOC112997596, LOC113002585, LOC113002586, LOC113002587, LOC113002588, LOC113002589, LOC113002590, LOC113002591, LOC114004392, LOC114004393, LOC114004394, LOC114803477, LOC114827820, LOC114827841, LOC116158511, LOC116158512, LOC116158513, LOC116158514, LOC116158515, LOC116158516, LOC116158517, LOC116158518, LOC121056758, LOC121056759, LOC121056760, LOC121056761, LOC121056762, LOC121056763, LOC121056764, LOC121056765, LOC121056766, LOC121079939, LOC121079940, LOC121079941, LOC121079942, LOC121079943, LOC121079944, LOC121079945, LOC121725197, LOC121725198, LOC121725199, LOC121725200, LOC121725201, LOC121725202, LOC121725203, LOC121725204, LOC121725205, LOC121725206, LOC121725207, LOC153684, LOC340090, LOC648987, LPCAT1, LRRC14B, LRRC70, LSINCT5, MAP1B, MAP3K1, MARCHF11, MARCHF11-DT, MARCHF6, MARVELD2, MAST4, MAST4-AS1, MCCC2, MCIDAS, MED10, MIER3, MIR10397, MIR10522, MIR3650, MIR4277, MIR4278, MIR4279, MIR4456, MIR4457, MIR4458, MIR4458HG, MIR4459, MIR449A, MIR449B, MIR449C, MIR4635, MIR4636, MIR4637, MIR4803, MIR4804, MIR548AE2, MIR5687, MIR579, MIR580, MIR581, MIR582, MIR6075, MIR6131, MIR887, MNS16A, MOCS2, MOCS2-DT, MROH2B, MRPL36, MRPS27, MRPS30, MRPS30-DT, MRPS36, MTMR12, MTREX, MTRR, MYO10, NADK2, NADK2-AS1, NAIP, NDUFAF2, NDUFS4, NDUFS6, NIM1K, NIPBL, NIPBL-DT, NKD2, NLN, NNT, NNT-AS1, NPR3, NSUN2, NUP155, OCLN, OSMR, OSMR-DT, OTULIN, OTULIN-DT, OTULINL, OXCT1, OXCT1-AS1, PAIP1, PARP8, PART1, PDCD6, PDCD6-AHRR, PDCD6-DT, PDE4D, PDZD2, PELO, PIK3R1, PLCXD3, PLEKHG4B, PLK2, PLPP1, PP7080, PPWD1, PRDM9, PRKAA1, PRLR, PTCD2, PTGER4, PURPL, RAB3C, RAD1, RAD17, RAI14, RAI14-DT, RANBP3L, RETREG1, RETREG1-AS1, RGS7BP, RICTOR, RIMOC1, RNF180, ROPN1L, ROPN1L-AS1, RPL37, RXFP3, SDHA, SELENOP, SEMA5A, SEMA5A-AS1, SERF1A, SERF1B, SETD9, SGTB, SHISAL2B, SHLD3, SKP2, SLC12A7, SLC1A3, SLC30A5, SLC38A9, SLC45A2, SLC6A18, SLC6A19, SLC6A3, SLC9A3, SLC9A3-AS1, SMIM15, SMIM15-AS1, SMN1, SMN2, SNHG18, SNORA105A, SNORA50D, SNORD123, SNORD13B-1, SNORD13B-2, SNORD141B, SNORD170, SNORD72, SNX18, SPEF2, SRD5A1, SREK1, SREK1IP1, SUB1, TAF9, TARS1, TAS2R1, TENT4A, TERT, TMEM171, TMEM174, TMEM267, TNPO1, TPPP, TRAPPC13, TRIM23, TRIO, TRIP13, TTC23L, TTC23L-AS1, TTC33, UBE2QL1, UGT3A1, UGT3A2, UTP15, WDR70, ZDHHC11, ZDHHC11B, ZFR, ZNF131, ZNF366, ZNF622, ZSWIM6
See casesPathogenic
(Sep 21, 2012)
no assertion criteria providedVCV000149824
8.
GRCh37:
Chr5:22149-21217229
GRCh38:
Chr5:22149-21217120
ADAMTS16, ADAMTS16-DT, ADCY2, AHRR, ANKH, ANKRD33B, ATPSCKMT, BASP1, BASP1-AS1, BRD9, C5orf38, C5orf49, CCDC127, CCT5, CDH18, CDH18-AS1, CEP72, CEP72-DT, CLPTM1L, CMBL, CTD-2194D22.4, CTD-2350J17.1, CTD-3080P12.3, CTNND2, DAP, DAP-DT, DNAH5, EXOC3, EXOC3-AS1, FASTKD3, FBXL7, H3Y1, H3Y2, ICE1, IRX1, IRX2, IRX4, IRX4-AS1, LINC01017, LINC01018, LINC01019, LINC01020, LINC01194, LINC01377, LINC01511, LINC02063, LINC02102, LINC02111, LINC02112, LINC02114, LINC02116, LINC02121, LINC02123, LINC02142, LINC02145, LINC02146, LINC02149, LINC02150, LINC02162, LINC02199, LINC02212, LINC02213, LINC02217, LINC02218, LINC02220, LINC02221, LINC02223, LINC02226, LINC02236, LINC02241, LOC100130744, LOC100506688, LOC100506858, LOC105374618, LOC105374620, LOC107457585, LOC107758904, LOC108251796, LOC108254683, LOC110120635, LOC110120695, LOC110120713, LOC110120722, LOC110120760, LOC110121060, LOC110806263, LOC110806264, LOC111828522, LOC112997548, LOC112997549, LOC112997550, LOC112997551, LOC112997585, LOC112997586, LOC112997587, LOC112997593, LOC113002586, LOC113002587, LOC114827841, LOC116158511, LOC116158512, LOC121056758, LOC121056759, LOC121056760, LOC121056761, LOC121725197, LOC121725198, LPCAT1, LRRC14B, LSINCT5, MARCHF11, MARCHF11-DT, MARCHF6, MED10, MIR10397, MIR10522, MIR4277, MIR4278, MIR4456, MIR4457, MIR4458, MIR4458HG, MIR4635, MIR4636, MIR4637, MIR6075, MIR6131, MIR887, MNS16A, MRPL36, MTRR, MYO10, NDUFS6, NKD2, NSUN2, OTULIN, OTULIN-DT, OTULINL, PDCD6, PDCD6-AHRR, PDCD6-DT, PLEKHG4B, PP7080, RETREG1, RETREG1-AS1, ROPN1L, ROPN1L-AS1, SDHA, SEMA5A, SEMA5A-AS1, SLC12A7, SLC6A18, SLC6A19, SLC6A3, SLC9A3, SLC9A3-AS1, SNHG18, SNORD123, SNORD141B, SNORD170, SRD5A1, TAS2R1, TENT4A, TERT, TPPP, TRIO, TRIP13, UBE2QL1, ZDHHC11, ZDHHC11B, ZNF622
See casesPathogenic
(Jun 1, 2012)
no assertion criteria providedVCV000149556
9.
GRCh37:
Chr5:22149-22775404
GRCh38:
Chr5:22149-22775295
MARCHF6, MED10, MIR10397, MIR10522, MIR4277, MIR4278, MIR4456, MIR4457, MIR4458, MIR4458HG, MIR4635, MIR4636, MIR4637, MIR6075, MIR6131, MIR887, MNS16A, MRPL36, MTRR, MYO10, NDUFS6, NKD2, NSUN2, OTULIN, OTULIN-DT, OTULINL, PDCD6, PDCD6-AHRR, PDCD6-DT, PLEKHG4B, PP7080, RETREG1, RETREG1-AS1, ROPN1L, ROPN1L-AS1, SDHA, SEMA5A, SEMA5A-AS1, SLC12A7, SLC6A18, SLC6A19, SLC6A3, SLC9A3, SLC9A3-AS1, SNHG18, SNORA105A, SNORD123, SNORD141B, SNORD170, SRD5A1, TAS2R1, TENT4A, TERT, TPPP, TRIO, TRIP13, UBE2QL1, ZDHHC11, ZDHHC11B, ZNF622, ADAMTS16, ADAMTS16-DT, ADCY2, AHRR, ANKH, ANKRD33B, ATPSCKMT, BASP1, BASP1-AS1, BRD9, C5orf38, C5orf49, CCDC127, CCT5, CDH12, CDH18, CDH18-AS1, CEP72, CEP72-DT, CLPTM1L, CMBL, CTD-2194D22.4, CTD-2350J17.1, CTD-3080P12.3, CTNND2, DAP, DAP-DT, DNAH5, EXOC3, EXOC3-AS1, FASTKD3, FBXL7, H3Y1, H3Y2, ICE1, IRX1, IRX2, IRX4, IRX4-AS1, LINC01017, LINC01018, LINC01019, LINC01020, LINC01194, LINC01377, LINC01511, LINC02063, LINC02102, LINC02111, LINC02112, LINC02114, LINC02116, LINC02121, LINC02123, LINC02142, LINC02145, LINC02146, LINC02149, LINC02150, LINC02162, LINC02199, LINC02212, LINC02213, LINC02217, LINC02218, LINC02220, LINC02221, LINC02223, LINC02226, LINC02236, LINC02241, LOC100130744, LOC100506688, LOC100506858, LOC105374618, LOC105374620, LOC107457585, LOC107758904, LOC108251796, LOC108254683, LOC110120635, LOC110120695, LOC110120713, LOC110120722, LOC110120760, LOC110121060, LOC110806263, LOC110806264, LOC111828522, LOC112997548, LOC112997549, LOC112997550, LOC112997551, LOC112997585, LOC112997586, LOC112997587, LOC112997593, LOC113002586, LOC113002587, LOC114827841, LOC116158511, LOC116158512, LOC121056758, LOC121056759, LOC121056760, LOC121056761, LOC121725197, LOC121725198, LPCAT1, LRRC14B, LSINCT5, MARCHF11, MARCHF11-DT
See casesPathogenic
(Jan 23, 2012)
no assertion criteria providedVCV000149057
10.
GRCh37:
Chr5:22149-27188057
GRCh38:
Chr5:22149-27187950
ADAMTS16, ADAMTS16-DT, ADCY2, AHRR, ANKH, ANKRD33B, ATPSCKMT, BASP1, BASP1-AS1, BRD9, C5orf38, C5orf49, CCDC127, CCT5, CDH10, CDH12, CDH18, CDH18-AS1, CDH9, CEP72, CEP72-DT, CLPTM1L, CMBL, CTD-2194D22.4, CTD-2350J17.1, CTD-3080P12.3, CTNND2, DAP, DAP-DT, DNAH5, EXOC3, EXOC3-AS1, FASTKD3, FBXL7, H3Y1, H3Y2, ICE1, IRX1, IRX2, IRX4, IRX4-AS1, LINC01017, LINC01018, LINC01019, LINC01020, LINC01194, LINC01377, LINC01511, LINC02063, LINC02102, LINC02111, LINC02112, LINC02114, LINC02116, LINC02121, LINC02123, LINC02142, LINC02145, LINC02146, LINC02149, LINC02150, LINC02162, LINC02199, LINC02211, LINC02212, LINC02213, LINC02217, LINC02218, LINC02220, LINC02221, LINC02223, LINC02226, LINC02228, LINC02236, LINC02239, LINC02241, LINC02899, LOC100130744, LOC100506688, LOC100506858, LOC105374618, LOC105374620, LOC107457585, LOC107758904, LOC108175340, LOC108175341, LOC108251796, LOC108254683, LOC110120635, LOC110120695, LOC110120713, LOC110120722, LOC110120760, LOC110121060, LOC110806263, LOC110806264, LOC111828522, LOC112997548, LOC112997549, LOC112997550, LOC112997551, LOC112997585, LOC112997586, LOC112997587, LOC112997593, LOC113002586, LOC113002587, LOC114827841, LOC116158511, LOC116158512, LOC121056758, LOC121056759, LOC121056760, LOC121056761, LOC121725197, LOC121725198, LPCAT1, LRRC14B, LSINCT5, MARCHF11, MARCHF11-DT, MARCHF6, MED10, MIR10397, MIR10522, MIR4277, MIR4278, MIR4456, MIR4457, MIR4458, MIR4458HG, MIR4635, MIR4636, MIR4637, MIR6075, MIR6131, MIR887, MNS16A, MRPL36, MTRR, MYO10, NDUFS6, NKD2, NSUN2, OTULIN, OTULIN-DT, OTULINL, PDCD6, PDCD6-AHRR, PDCD6-DT, PLEKHG4B, PP7080, PRDM9, RETREG1, RETREG1-AS1, ROPN1L, ROPN1L-AS1, SDHA, SEMA5A, SEMA5A-AS1, SLC12A7, SLC6A18, SLC6A19, SLC6A3, SLC9A3, SLC9A3-AS1, SNHG18, SNORA105A, SNORD123, SNORD141B, SNORD170, SRD5A1, TAS2R1, TENT4A, TERT, TPPP, TRIO, TRIP13, UBE2QL1, ZDHHC11, ZDHHC11B, ZNF622
See casesPathogenic
(Jan 16, 2012)
no assertion criteria providedVCV000149039
11.
GRCh37:
Chr5:22149-23607162
GRCh38:
Chr5:22149-23607053
ADAMTS16, ADAMTS16-DT, ADCY2, AHRR, ANKH, ANKRD33B, ATPSCKMT, BASP1, BASP1-AS1, BRD9, C5orf38, C5orf49, CCDC127, CCT5, CDH12, CDH18, CDH18-AS1, CEP72, CEP72-DT, CLPTM1L, CMBL, CTD-2194D22.4, CTD-2350J17.1, CTD-3080P12.3, CTNND2, DAP, DAP-DT, DNAH5, EXOC3, EXOC3-AS1, FASTKD3, FBXL7, H3Y1, H3Y2, ICE1, IRX1, IRX2, IRX4, IRX4-AS1, LINC01017, LINC01018, LINC01019, LINC01020, LINC01194, LINC01377, LINC01511, LINC02063, LINC02102, LINC02111, LINC02112, LINC02114, LINC02116, LINC02121, LINC02123, LINC02142, LINC02145, LINC02146, LINC02149, LINC02150, LINC02162, LINC02199, LINC02212, LINC02213, LINC02217, LINC02218, LINC02220, LINC02221, LINC02223, LINC02226, LINC02236, LINC02241, LOC100130744, LOC100506688, LOC100506858, LOC105374618, LOC105374620, LOC107457585, LOC107758904, LOC108251796, LOC108254683, LOC110120635, LOC110120695, LOC110120713, LOC110120722, LOC110120760, LOC110121060, LOC110806263, LOC110806264, LOC111828522, LOC112997548, LOC112997549, LOC112997550, LOC112997551, LOC112997585, LOC112997586, LOC112997587, LOC112997593, LOC113002586, LOC113002587, LOC114827841, LOC116158511, LOC116158512, LOC121056758, LOC121056759, LOC121056760, LOC121056761, LOC121725197, LOC121725198, LPCAT1, LRRC14B, LSINCT5, MARCHF11, MARCHF11-DT, MARCHF6, MED10, MIR10397, MIR10522, MIR4277, MIR4278, MIR4456, MIR4457, MIR4458, MIR4458HG, MIR4635, MIR4636, MIR4637, MIR6075, MIR6131, MIR887, MNS16A, MRPL36, MTRR, MYO10, NDUFS6, NKD2, NSUN2, OTULIN, OTULIN-DT, OTULINL, PDCD6, PDCD6-AHRR, PDCD6-DT, PLEKHG4B, PP7080, PRDM9, RETREG1, RETREG1-AS1, ROPN1L, ROPN1L-AS1, SDHA, SEMA5A, SEMA5A-AS1, SLC12A7, SLC6A18, SLC6A19, SLC6A3, SLC9A3, SLC9A3-AS1, SNHG18, SNORA105A, SNORD123, SNORD141B, SNORD170, SRD5A1, TAS2R1, TENT4A, TERT, TPPP, TRIO, TRIP13, UBE2QL1, ZDHHC11, ZDHHC11B, ZNF622
See casesPathogenic
(Sep 30, 2011)
no assertion criteria providedVCV000148740
12.
GRCh37:
Chr5:22149-28075213
GRCh38:
Chr5:22149-28075106
ADAMTS16, ADAMTS16-DT, ADCY2, AHRR, ANKH, ANKRD33B, ATPSCKMT, BASP1, BASP1-AS1, BRD9, C5orf38, C5orf49, CCDC127, CCT5, CDH10, CDH12, CDH18, CDH18-AS1, CDH9, CEP72, CEP72-DT, CLPTM1L, CMBL, CTD-2194D22.4, CTD-2350J17.1, CTD-3080P12.3, CTNND2, DAP, DAP-DT, DNAH5, EXOC3, EXOC3-AS1, FASTKD3, FBXL7, H3Y1, H3Y2, ICE1, IRX1, IRX2, IRX4, IRX4-AS1, LINC01017, LINC01018, LINC01019, LINC01020, LINC01194, LINC01377, LINC01511, LINC02063, LINC02102, LINC02111, LINC02112, LINC02114, LINC02116, LINC02121, LINC02123, LINC02142, LINC02145, LINC02146, LINC02149, LINC02150, LINC02162, LINC02199, LINC02211, LINC02212, LINC02213, LINC02217, LINC02218, LINC02220, LINC02221, LINC02223, LINC02226, LINC02228, LINC02236, LINC02239, LINC02241, LINC02899, LOC100130744, LOC100506688, LOC100506858, LOC105374618, LOC105374620, LOC107457585, LOC107758904, LOC108175340, LOC108175341, LOC108251796, LOC108254683, LOC110120635, LOC110120695, LOC110120713, LOC110120722, LOC110120760, LOC110121060, LOC110806263, LOC110806264, LOC111828522, LOC112997548, LOC112997549, LOC112997550, LOC112997551, LOC112997585, LOC112997586, LOC112997587, LOC112997593, LOC113002586, LOC113002587, LOC114827841, LOC116158511, LOC116158512, LOC121056758, LOC121056759, LOC121056760, LOC121056761, LOC121725197, LOC121725198, LPCAT1, LRRC14B, LSINCT5, MARCHF11, MARCHF11-DT, MARCHF6, MED10, MIR10397, MIR10522, MIR4277, MIR4278, MIR4456, MIR4457, MIR4458, MIR4458HG, MIR4635, MIR4636, MIR4637, MIR6075, MIR6131, MIR887, MNS16A, MRPL36, MTRR, MYO10, NDUFS6, NKD2, NSUN2, OTULIN, OTULIN-DT, OTULINL, PDCD6, PDCD6-AHRR, PDCD6-DT, PLEKHG4B, PP7080, PRDM9, PURPL, RETREG1, RETREG1-AS1, ROPN1L, ROPN1L-AS1, SDHA, SEMA5A, SEMA5A-AS1, SLC12A7, SLC6A18, SLC6A19, SLC6A3, SLC9A3, SLC9A3-AS1, SNHG18, SNORA105A, SNORD123, SNORD141B, SNORD170, SRD5A1, TAS2R1, TENT4A, TERT, TPPP, TRIO, TRIP13, UBE2QL1, ZDHHC11, ZDHHC11B, ZNF622
See casesPathogenic
(Aug 26, 2011)
no assertion criteria providedVCV000148612
13.
GRCh37:
Chr5:22149-28429348
GRCh38:
Chr5:22149-28429241
ADAMTS16, ADAMTS16-DT, ADCY2, AHRR, ANKH, ANKRD33B, ATPSCKMT, BASP1, BASP1-AS1, BRD9, C5orf38, C5orf49, CCDC127, CCT5, CDH10, CDH12, CDH18, CDH18-AS1, CDH9, CEP72, CEP72-DT, CLPTM1L, CMBL, CTD-2194D22.4, CTD-2350J17.1, CTD-3080P12.3, CTNND2, DAP, DAP-DT, DNAH5, EXOC3, EXOC3-AS1, FASTKD3, FBXL7, H3Y1, H3Y2, ICE1, IRX1, IRX2, IRX4, IRX4-AS1, LINC01017, LINC01018, LINC01019, LINC01020, LINC01194, LINC01377, LINC01511, LINC02063, LINC02102, LINC02103, LINC02111, LINC02112, LINC02114, LINC02116, LINC02121, LINC02123, LINC02142, LINC02145, LINC02146, LINC02149, LINC02150, LINC02162, LINC02199, LINC02211, LINC02212, LINC02213, LINC02217, LINC02218, LINC02220, LINC02221, LINC02223, LINC02226, LINC02228, LINC02236, LINC02239, LINC02241, LINC02899, LOC100130744, LOC100506688, LOC100506858, LOC105374618, LOC105374620, LOC107457585, LOC107758904, LOC108175340, LOC108175341, LOC108251796, LOC108254683, LOC110120635, LOC110120695, LOC110120713, LOC110120722, LOC110120760, LOC110121060, LOC110806263, LOC110806264, LOC111828522, LOC112997548, LOC112997549, LOC112997550, LOC112997551, LOC112997585, LOC112997586, LOC112997587, LOC112997593, LOC113002586, LOC113002587, LOC114827841, LOC116158511, LOC116158512, LOC121056758, LOC121056759, LOC121056760, LOC121056761, LOC121725197, LOC121725198, LPCAT1, LRRC14B, LSINCT5, MARCHF11, MARCHF11-DT, MARCHF6, MED10, MIR10397, MIR10522, MIR4277, MIR4278, MIR4456, MIR4457, MIR4458, MIR4458HG, MIR4635, MIR4636, MIR4637, MIR6075, MIR6131, MIR887, MNS16A, MRPL36, MTRR, MYO10, NDUFS6, NKD2, NSUN2, OTULIN, OTULIN-DT, OTULINL, PDCD6, PDCD6-AHRR, PDCD6-DT, PLEKHG4B, PP7080, PRDM9, PURPL, RETREG1, RETREG1-AS1, ROPN1L, ROPN1L-AS1, SDHA, SEMA5A, SEMA5A-AS1, SLC12A7, SLC6A18, SLC6A19, SLC6A3, SLC9A3, SLC9A3-AS1, SNHG18, SNORA105A, SNORD123, SNORD141B, SNORD170, SRD5A1, TAS2R1, TENT4A, TERT, TPPP, TRIO, TRIP13, UBE2QL1, ZDHHC11, ZDHHC11B, ZNF622
See casesPathogenic
(Dec 22, 2010)
no assertion criteria providedVCV000148081
14.
GRCh37:
Chr5:22149-27485726
GRCh38:
Chr5:22149-27485619
ADAMTS16, ADAMTS16-DT, ADCY2, AHRR, ANKH, ANKRD33B, ATPSCKMT, BASP1, BASP1-AS1, BRD9, C5orf38, C5orf49, CCDC127, CCT5, CDH10, CDH12, CDH18, CDH18-AS1, CDH9, CEP72, CEP72-DT, CLPTM1L, CMBL, CTD-2194D22.4, CTD-2350J17.1, CTD-3080P12.3, FASTKD3, CTNND2, DAP, DAP-DT, DNAH5, EXOC3, EXOC3-AS1, FBXL7, H3Y1, H3Y2, ICE1, IRX1, IRX2, IRX4, IRX4-AS1, LINC01017, LINC01018, LINC01019, LINC01020, LINC01194, LINC01377, LINC01511, LINC02063, LINC02102, LINC02111, LINC02112, LINC02114, LINC02116, LINC02121, LINC02123, LINC02142, LINC02145, LINC02146, LINC02149, LINC02150, LINC02162, LINC02199, LINC02211, LINC02212, LINC02213, LINC02217, LINC02218, LINC02220, LINC02221, LINC02223, LINC02226, LINC02228, LINC02236, LINC02239, LINC02241, LINC02899, LOC100130744, LOC100506688, LOC100506858, LOC105374618, LOC105374620, LOC107457585, LOC107758904, LOC108175340, LOC108175341, LOC108251796, LOC108254683, LOC110120635, LOC110120695, LOC110120713, LOC110120722, LOC110120760, LOC110121060, LOC110806263, LOC110806264, LOC111828522, LOC112997548, LOC112997549, LOC112997550, LOC112997551, LOC112997585, LOC112997586, LOC112997587, LOC112997593, LOC113002586, LOC113002587, LOC114827841, LOC116158511, LOC116158512, LOC121056758, LOC121056759, LOC121056760, LOC121056761, LOC121725197, LOC121725198, LPCAT1, LRRC14B, LSINCT5, MARCHF11, MARCHF11-DT, MARCHF6, MED10, MIR10397, MIR10522, MIR4277, MIR4278, MIR4456, MIR4457, MIR4458, MIR4458HG, MIR4635, MIR4636, MIR4637, MIR6075, MIR6131, MIR887, MNS16A, MRPL36, MTRR, MYO10, NDUFS6, NKD2, NSUN2, OTULIN, OTULIN-DT, OTULINL, PDCD6, PDCD6-AHRR, PDCD6-DT, PLEKHG4B, PP7080, PRDM9, PURPL, RETREG1, RETREG1-AS1, ROPN1L, ROPN1L-AS1, SDHA, SEMA5A, SEMA5A-AS1, SLC12A7, SLC6A18, SLC6A19, SLC6A3, SLC9A3, SLC9A3-AS1, SNHG18, SNORA105A, SNORD123, SNORD141B, SNORD170, SRD5A1, TAS2R1, TENT4A, TERT, TPPP, TRIO, TRIP13, UBE2QL1, ZDHHC11, ZDHHC11B, ZNF622
See casesPathogenic
(Apr 8, 2011)
no assertion criteria providedVCV000147970
15.
GRCh37:
Chr5:22149-15851485
GRCh38:
Chr5:22149-15851376
See casesPathogenic
(Dec 22, 2010)
no assertion criteria providedVCV000147809
16.
GRCh37:
Chr5:22149-16584684
GRCh38:
Chr5:22149-16584575
ADAMTS16, ADAMTS16-DT, ADCY2, AHRR, ANKH, ANKRD33B, ATPSCKMT, BRD9, C5orf38, C5orf49, CCDC127, CCT5, CEP72, CEP72-DT, CLPTM1L, CMBL, CTD-2194D22.4, CTD-2350J17.1, CTD-3080P12.3, CTNND2, DAP, DAP-DT, DNAH5, EXOC3, EXOC3-AS1, FASTKD3, FBXL7, ICE1, IRX1, IRX2, IRX4, IRX4-AS1, LINC01017, LINC01018, LINC01019, LINC01020, LINC01194, LINC01377, LINC01511, LINC02063, LINC02102, LINC02112, LINC02114, LINC02116, LINC02121, LINC02123, LINC02142, LINC02145, LINC02149, LINC02150, LINC02162, LINC02199, LINC02212, LINC02213, LINC02220, LINC02221, LINC02226, LINC02236, LOC100130744, LOC100506688, LOC100506858, LOC105374618, LOC105374620, LOC107457585, LOC107758904, LOC108251796, LOC110120635, LOC110120695, LOC110120713, LOC110120722, LOC110120760, LOC110121060, LOC110806263, LOC110806264, LOC111828522, LOC112997548, LOC112997549, LOC112997550, LOC112997551, LOC112997586, LOC112997593, LOC113002586, LOC113002587, LOC114827841, LOC116158511, LOC116158512, LOC121056758, LOC121056759, LOC121056760, LOC121725197, LOC121725198, LPCAT1, LRRC14B, LSINCT5, MARCHF11, MARCHF11-DT, MARCHF6, MED10, MIR10397, MIR4277, MIR4278, MIR4456, MIR4457, MIR4458, MIR4458HG, MIR4635, MIR4636, MIR4637, MIR6075, MIR6131, MIR887, MNS16A, MRPL36, MTRR, NDUFS6, NKD2, NSUN2, OTULIN, OTULIN-DT, OTULINL, PDCD6, PDCD6-AHRR, PDCD6-DT, PLEKHG4B, PP7080, RETREG1, ROPN1L, ROPN1L-AS1, SDHA, SEMA5A, SEMA5A-AS1, SLC12A7, SLC6A18, SLC6A19, SLC6A3, SLC9A3, SLC9A3-AS1, SNHG18, SNORD123, SNORD141B, SNORD170, SRD5A1, TAS2R1, TENT4A, TERT, TPPP, TRIO, TRIP13, UBE2QL1, ZDHHC11, ZDHHC11B, ZNF622
See casesPathogenic
(Dec 22, 2010)
no assertion criteria providedVCV000147356
17.
GRCh37:
Chr5:22149-32248116
GRCh38:
Chr5:22149-32248010
ADAMTS16, ADAMTS16-DT, ADCY2, AHRR, ANKH, ANKRD33B, ATPSCKMT, BASP1, BASP1-AS1, BRD9, C5orf22, C5orf38, C5orf49, CCDC127, CCT5, CDH10, CDH12, CDH18, CDH18-AS1, CDH6, CDH9, CEP72, CEP72-DT, CLPTM1L, CMBL, CTD-2194D22.4, CTD-2350J17.1, CTD-3080P12.3, EXOC3-AS1, CTNND2, DAP, DAP-DT, DNAH5, DROSHA, EXOC3, FASTKD3, FBXL7, GOLPH3, H3Y1, H3Y2, ICE1, IRX1, IRX2, IRX4, IRX4-AS1, LINC01017, LINC01018, LINC01019, LINC01020, LINC01194, LINC01377, LINC01511, LINC02063, LINC02064, LINC02102, LINC02103, LINC02109, LINC02111, LINC02112, LINC02114, LINC02116, LINC02121, LINC02123, LINC02142, LINC02145, LINC02146, LINC02149, LINC02150, LINC02162, LINC02199, LINC02211, LINC02212, LINC02213, LINC02217, LINC02218, LINC02220, LINC02221, LINC02223, LINC02226, LINC02228, LINC02236, LINC02239, LINC02241, LINC02899, LOC100130744, LOC100506688, LOC100506858, LOC101929645, LOC105374618, LOC105374620, LOC105374704, LOC107457585, LOC107758904, LOC108175340, LOC108175341, LOC108251796, LOC108254683, LOC110120635, LOC110120695, LOC110120713, LOC110120722, LOC110120760, LOC110121060, LOC110806263, LOC110806264, LOC111828522, LOC112997548, LOC112997549, LOC112997550, LOC112997551, LOC112997585, LOC112997586, LOC112997587, LOC112997588, LOC112997593, LOC113002586, LOC113002587, LOC114803477, LOC114827820, LOC114827841, LOC116158511, LOC116158512, LOC121056758, LOC121056759, LOC121056760, LOC121056761, LOC121725197, LOC121725198, LPCAT1, LRRC14B, LSINCT5, MARCHF11, MARCHF11-DT, MARCHF6, MED10, MIR10397, MIR10522, MIR4277, MIR4278, MIR4279, MIR4456, MIR4457, MIR4458, MIR4458HG, MIR4635, MIR4636, MIR4637, MIR6075, MIR6131, MIR887, MNS16A, MRPL36, MTMR12, MTRR, MYO10, NDUFS6, NKD2, NSUN2, OTULIN, OTULIN-DT, OTULINL, PDCD6, PDCD6-AHRR, PDCD6-DT, PDZD2, PLEKHG4B, PP7080, PRDM9, PURPL, RETREG1, RETREG1-AS1, ROPN1L, ROPN1L-AS1, SDHA, SEMA5A, SEMA5A-AS1, SLC12A7, SLC6A18, SLC6A19, SLC6A3, SLC9A3, SLC9A3-AS1, SNHG18, SNORA105A, SNORD123, SNORD141B, SNORD170, SRD5A1, TAS2R1, TENT4A, TERT, TPPP, TRIO, TRIP13, UBE2QL1, ZDHHC11, ZDHHC11B, ZNF622
See casesPathogenic
(Feb 18, 2011)
no assertion criteria providedVCV000146365
18.
GRCh37:
Chr5:22149-27788723
GRCh38:
Chr5:22149-27788616
ADAMTS16, ADAMTS16-DT, ADCY2, AHRR, ANKH, ANKRD33B, ATPSCKMT, BASP1, BASP1-AS1, BRD9, C5orf38, C5orf49, CCDC127, CCT5, CDH10, CDH12, CDH18, CDH18-AS1, CDH9, CEP72, CEP72-DT, CLPTM1L, CMBL, CTD-2194D22.4, CTD-2350J17.1, CTD-3080P12.3, CTNND2, DAP, DAP-DT, DNAH5, EXOC3, EXOC3-AS1, FASTKD3, FBXL7, H3Y1, H3Y2, ICE1, IRX1, IRX2, IRX4, IRX4-AS1, LINC01017, LINC01018, LINC01019, LINC01020, LINC01194, LINC01377, LINC01511, LINC02063, LINC02102, LINC02111, LINC02112, LINC02114, LINC02116, LINC02121, LINC02123, LINC02142, LINC02145, LINC02146, LINC02149, LINC02150, LINC02162, LINC02199, LINC02211, LINC02212, LINC02213, LINC02217, LINC02218, LINC02220, LINC02221, LINC02223, LINC02226, LINC02228, LINC02236, LINC02239, LINC02241, LINC02899, LOC100130744, LOC100506688, LOC100506858, LOC105374618, LOC105374620, LOC107457585, LOC107758904, LOC108175340, LOC108175341, LOC108251796, LOC108254683, LOC110120635, LOC110120695, LOC110120713, LOC110120722, LOC110120760, LOC110121060, LOC110806263, LOC110806264, LOC111828522, LOC112997548, LOC112997549, LOC112997550, LOC112997551, LOC112997585, LOC112997586, LOC112997587, LOC112997593, LOC113002586, LOC113002587, LOC114827841, LOC116158511, LOC116158512, LOC121056758, LOC121056759, LOC121056760, LOC121056761, LOC121725197, LOC121725198, LPCAT1, LRRC14B, LSINCT5, MARCHF11, MARCHF11-DT, MARCHF6, MED10, MIR10397, MIR10522, MIR4277, MIR4278, MIR4456, MIR4457, MIR4458, MIR4458HG, MIR4635, MIR4636, MIR4637, MIR6075, MIR6131, MIR887, MNS16A, MRPL36, MTRR, MYO10, NDUFS6, NKD2, NSUN2, OTULIN, OTULIN-DT, OTULINL, PDCD6, PDCD6-AHRR, PDCD6-DT, PLEKHG4B, PP7080, PRDM9, PURPL, RETREG1, RETREG1-AS1, ROPN1L, ROPN1L-AS1, SDHA, SEMA5A, SEMA5A-AS1, SLC12A7, SLC6A18, SLC6A19, SLC6A3, SLC9A3, SLC9A3-AS1, SNHG18, SNORA105A, SNORD123, SNORD141B, SNORD170, SRD5A1, TAS2R1, TENT4A, TERT, TPPP, TRIO, TRIP13, UBE2QL1, ZDHHC11, ZDHHC11B, ZNF622
See casesPathogenic
(Aug 27, 2010)
no assertion criteria providedVCV000145514
19.
GRCh37:
Chr5:22149-33418294
GRCh38:
Chr5:22149-33418188
LINC02212, LINC02213, LINC02217, LINC02218, LINC02220, LINC02221, LINC02223, LINC02226, LINC02228, LINC02236, LINC02239, CCDC127, CCT5, CDH10, CDH12, ANKRD33B, ATPSCKMT, BASP1, BASP1-AS1, BRD9, C5orf22, C5orf38, C5orf49, ADAMTS16, ADAMTS16-DT, ADCY2, AHRR, ANKH, CDH18, CDH18-AS1, CDH6, CDH9, CEP72, CEP72-DT, CLPTM1L, CMBL, CTD-2194D22.4, CTD-2350J17.1, CTD-3080P12.3, CTNND2, DAP, DAP-DT, DNAH5, DROSHA, EXOC3, EXOC3-AS1, FASTKD3, FBXL7, GOLPH3, H3Y1, H3Y2, ICE1, IRX1, IRX2, IRX4, IRX4-AS1, LINC01017, LINC01018, LINC01019, LINC01020, LINC01194, LINC01377, LINC01511, LINC02061, LINC02063, LINC02064, LINC02102, LINC02103, LINC02109, LINC02111, LINC02112, LINC02114, LINC02116, LINC02120, LINC02121, LINC02123, LINC02142, LINC02145, LINC02146, LINC02149, LINC02150, LINC02160, LINC02162, LINC02199, LINC02211, LINC02241, LINC02899, LOC100130744, LOC100506688, LOC100506858, LOC101929645, LOC105374618, LOC105374620, LOC105374704, LOC107457585, LOC107758904, LOC108175340, LOC108175341, LOC108251796, LOC108254683, LOC108281130, LOC110120635, LOC110120695, LOC110120713, LOC110120722, LOC110120760, LOC110121060, LOC110806263, LOC110806264, LOC111828522, LOC112997548, LOC112997549, LOC112997550, LOC112997551, LOC112997585, LOC112997586, LOC112997587, LOC112997588, LOC112997593, LOC113002586, LOC113002587, LOC114803477, LOC114827820, LOC114827841, LOC116158511, LOC116158512, LOC121056758, LOC121056759, LOC121056760, LOC121056761, LOC121725197, LOC121725198, LPCAT1, LRRC14B, LSINCT5, MARCHF11, MARCHF11-DT, MARCHF6, MED10, MIR10397, MIR10522, MIR4277, MIR4278, MIR4279, MIR4456, MIR4457, MIR4458, MIR4458HG, MIR4635, MIR4636, MIR4637, MIR579, MIR6075, MIR6131, MIR887, MNS16A, MRPL36, MTMR12, MTRR, MYO10, NDUFS6, NKD2, NPR3, NSUN2, OTULIN, OTULIN-DT, OTULINL, PDCD6, PDCD6-AHRR, PDCD6-DT, PDZD2, PLEKHG4B, PP7080, PRDM9, PURPL, RETREG1, RETREG1-AS1, ROPN1L, ROPN1L-AS1, SDHA, SEMA5A, SEMA5A-AS1, SLC12A7, SLC6A18, SLC6A19, SLC6A3, SLC9A3, SLC9A3-AS1, SNHG18, SNORA105A, SNORD123, SNORD141B, SNORD170, SRD5A1, SUB1, TAS2R1, TENT4A, TERT, TPPP, TRIO, TRIP13, UBE2QL1, ZDHHC11, ZDHHC11B, ZFR, ZNF622
See casesPathogenic
(Feb 28, 2010)
no assertion criteria providedVCV000144306
20.
GRCh37:
Chr5:22149-25699714
GRCh38:
Chr5:22149-25699605
ADAMTS16, ADAMTS16-DT, ADCY2, AHRR, ANKH, ANKRD33B, ATPSCKMT, BASP1, BASP1-AS1, BRD9, C5orf38, C5orf49, CCDC127, CCT5, CDH10, CDH12, CDH18, CDH18-AS1, CEP72, CEP72-DT, CLPTM1L, CMBL, CTD-2194D22.4, CTD-2350J17.1, CTD-3080P12.3, CTNND2, DAP, DAP-DT, DNAH5, EXOC3, EXOC3-AS1, FASTKD3, FBXL7, H3Y1, H3Y2, ICE1, IRX1, IRX2, IRX4, IRX4-AS1, LINC01017, LINC01018, LINC01019, LINC01020, LINC01194, LINC01377, LINC01511, LINC02063, LINC02102, LINC02111, LINC02112, LINC02114, LINC02116, LINC02121, LINC02123, LINC02142, LINC02145, LINC02146, LINC02149, LINC02150, LINC02162, LINC02199, LINC02211, LINC02212, LINC02213, LINC02217, LINC02218, LINC02220, LINC02221, LINC02223, LINC02226, LINC02228, LINC02236, LINC02239, LINC02241, LINC02899, LOC100130744, LOC100506688, LOC100506858, LOC105374618, LOC105374620, LOC107457585, LOC107758904, LOC108175340, LOC108175341, LOC108251796, LOC108254683, LOC110120635, LOC110120695, LOC110120713, LOC110120722, LOC110120760, LOC110121060, LOC110806263, LOC110806264, LOC111828522, LOC112997548, LOC112997549, LOC112997550, LOC112997551, LOC112997585, LOC112997586, LOC112997587, LOC112997593, LOC113002586, LOC113002587, LOC114827841, LOC116158511, LOC116158512, LOC121056758, LOC121056759, LOC121056760, LOC121056761, LOC121725197, LOC121725198, LPCAT1, LRRC14B, LSINCT5, MARCHF11, MARCHF11-DT, MARCHF6, MED10, MIR10397, MIR10522, MIR4277, MIR4278, MIR4456, MIR4457, MIR4458, MIR4458HG, MIR4635, MIR4636, MIR4637, MIR6075, MIR6131, MIR887, MNS16A, MRPL36, MTRR, MYO10, NDUFS6, NKD2, NSUN2, OTULIN, OTULIN-DT, OTULINL, PDCD6, PDCD6-AHRR, PDCD6-DT, PLEKHG4B, PP7080, PRDM9, RETREG1, RETREG1-AS1, ROPN1L, ROPN1L-AS1, SDHA, SEMA5A, SEMA5A-AS1, SLC12A7, SLC6A18, SLC6A19, SLC6A3, SLC9A3, SLC9A3-AS1, SNHG18, SNORA105A, SNORD123, SNORD141B, SNORD170, SRD5A1, TAS2R1, TENT4A, TERT, TPPP, TRIO, TRIP13, UBE2QL1, ZDHHC11, ZDHHC11B, ZNF622
See casesPathogenic
(Feb 28, 2010)
no assertion criteria providedVCV000144286
21.
GRCh37:
Chr5:22149-23132155
GRCh38:
Chr5:22149-23132046
CMBL, LINC01194, LINC02111, LOC105374620, PLEKHG4B, LINC02223, LOC111828522, ICE1, LOC110120713, CLPTM1L, MTRR, LINC02121, ANKRD33B, LOC110120635, CTD-3080P12.3, H3Y1, LOC113002587, LSINCT5, OTULINL, MIR10522, LINC02162, LOC121725198, AHRR, MIR4457, RETREG1, RETREG1-AS1, MIR6075, H3Y2, IRX4-AS1, MIR4458, TRIP13, CDH18-AS1, MIR4456, TENT4A, MIR4277, SNORD123, MIR4637, LOC114827841, CTD-2350J17.1, SLC9A3, NKD2, LOC121056761, PDCD6-DT, UBE2QL1, LOC107758904, MIR10397, MNS16A, LINC01511, LINC02213, LINC02199, OTULIN-DT, MIR6131, IRX1, LOC116158512, SNORD141B, C5orf49, DAP-DT, LOC112997549, ADAMTS16, FASTKD3, LOC110120695, SNHG18, SRD5A1, LINC02221, LOC110120760, LINC01018, MIR887, LINC02114, TAS2R1, LOC110121060, LOC121056758, LOC107457585, MED10, LINC02116, LOC116158511, MARCHF6, LINC02236, SNORA105A, LOC100130744, MRPL36, CTNND2, LOC110120722, ZDHHC11B, PP7080, PDCD6, LOC100506858, LINC01017, ANKH, LINC02241, LOC105374618, LOC121056759, MIR4636, SNORD170, LOC112997593, CCT5, ROPN1L-AS1, MIR4278, BASP1-AS1, EXOC3, ADAMTS16-DT, LOC112997587, CDH18, LOC112997550, LINC02218, MIR4635, ZDHHC11, LOC112997548, ATPSCKMT, LINC01019, LOC110806263, LOC121725197, MIR4458HG, LINC02142, BASP1, TPPP, CTD-2194D22.4, SLC6A19, MARCHF11, SEMA5A-AS1, CCDC127, LINC02112, SDHA, PDCD6-AHRR, CEP72, DAP, BRD9, TRIO, LINC02149, LOC108254683, TERT, LINC01377, LOC112997551, SLC6A3, LINC02212, LINC02123, LINC02150, ROPN1L, LINC02220, SEMA5A, LOC112997585, EXOC3-AS1, LINC01020, LINC02217, CDH12, C5orf38, SLC6A18, MARCHF11-DT, LOC121056760, LPCAT1, LINC02145, ADCY2, ZNF622, NDUFS6, OTULIN, NSUN2, IRX2, FBXL7, LRRC14B, SLC12A7, LOC108251796, LINC02063, SLC9A3-AS1, MYO10, LOC113002586, LOC100506688, LINC02146, LOC112997586, LOC110806264, LINC02102, DNAH5, LINC02226, IRX4, CEP72-DT
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000059555
22.
GRCh37:
Chr5:22419-19281001
GRCh38:
Chr5:22419-19280892
LOC121725197, ADAMTS16, SNHG18, C5orf38, LINC02220, ROPN1L, ZNF622, FASTKD3, OTULIN, LOC107457585, NSUN2, CTD-3080P12.3, MIR10522, MIR4456, LOC110806264, ADCY2, DAP, ANKRD33B, LOC121056760, NDUFS6, LOC105374620, MIR4636, TERT, CEP72, LINC01018, LOC121725198, SRD5A1, LINC02236, MIR4278, LOC112997585, ZDHHC11, LOC112997586, LOC110120760, SLC9A3, MRPL36, LINC01194, MIR4458HG, IRX4-AS1, LOC110120722, LINC01017, LINC02142, LOC108254683, SNORD141B, LOC105374618, OTULINL, TPPP, MYO10, LINC02112, PDCD6-DT, CTD-2194D22.4, CCDC127, BRD9, UBE2QL1, LINC01019, LINC02218, ANKH, LINC02145, ROPN1L-AS1, LINC01020, LOC110120713, IRX2, LOC121056759, CTNND2, MTRR, SEMA5A, CEP72-DT, ADAMTS16-DT, OTULIN-DT, LOC112997550, LOC113002587, MIR4457, PDCD6-AHRR, LINC02149, TAS2R1, LINC02114, MIR4458, LOC110120695, LINC02223, LINC02123, CCT5, ICE1, CTD-2350J17.1, LOC114827841, LRRC14B, LINC02116, ATPSCKMT, BASP1, MED10, TRIP13, LINC02199, LOC121056761, MIR6075, ZDHHC11B, LINC02221, SLC6A19, H3Y1, LOC112997551, DAP-DT, LOC110806263, LOC107758904, SLC12A7, LOC112997593, SNORD123, LINC02217, LOC112997549, LINC02121, LINC01377, SLC6A3, LOC116158511, SDHA, MARCHF11, RETREG1-AS1, TRIO, LOC100130744, MIR4277, LINC01511, LINC02111, EXOC3-AS1, LINC02212, LOC100506858, FBXL7, LINC02063, MARCHF6, LINC02150, LOC113002586, MIR4637, LOC111828522, SLC9A3-AS1, TENT4A, C5orf49, LINC02162, LOC116158512, LSINCT5, H3Y2, LINC02226, SLC6A18, MIR4635, LOC100506688, LOC110120635, LPCAT1, CLPTM1L, LINC02213, MIR887, BASP1-AS1, LINC02102, PLEKHG4B, EXOC3, LOC108251796, CMBL, MIR10397, LOC110121060, MARCHF11-DT, MIR6131, IRX1, DNAH5, IRX4, AHRR, RETREG1, PP7080, SEMA5A-AS1, PDCD6, SNORD170, NKD2, LOC121056758, LOC112997548, MNS16A
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000059576
23.
GRCh37:
Chr5:49893-19125631
GRCh38:
Chr5:49778-19125522
PLEKHG4B, FBXL7, LINC02112, LINC02213, LOC100506858, SRD5A1, CTD-3080P12.3, ANKH, OTULINL, LOC121725197, LINC02217, CMBL, LOC112997550, MIR887, LOC116158511, LOC108251796, ICE1, LOC111828522, LINC02220, LINC01020, CTNND2, LOC110121060, SLC12A7, SLC6A18, MARCHF11, TRIO, LOC100130744, SLC6A3, H3Y2, LINC02226, LINC02145, TPPP, CCDC127, TENT4A, DAP, MIR4457, TRIP13, MED10, MIR4635, UBE2QL1, PP7080, MYO10, CLPTM1L, LINC02116, LOC112997586, SEMA5A, LINC02223, MIR4456, ADAMTS16, LINC02236, ROPN1L-AS1, MIR10397, MTRR, CTD-2194D22.4, LINC02149, IRX4-AS1, IRX4, TERT, LOC107758904, SLC9A3-AS1, LOC110806263, LINC02114, SNORD170, IRX2, NSUN2, LRRC14B, LOC105374618, MNS16A, ZDHHC11, SLC6A19, LOC110806264, LINC02142, SLC9A3, PDCD6-AHRR, LOC121056758, NKD2, MIR4636, BASP1, LOC110120760, MIR6075, LOC121056759, LINC02121, H3Y1, ZDHHC11B, OTULIN-DT, FASTKD3, DAP-DT, SNHG18, MIR4277, MARCHF6, EXOC3-AS1, MIR4637, LOC110120722, BRD9, IRX1, C5orf38, BASP1-AS1, MIR4458, LOC114827841, CEP72-DT, LSINCT5, LOC110120713, MIR4458HG, C5orf49, LOC121056760, SDHA, SEMA5A-AS1, MRPL36, LINC02218, ADCY2, ANKRD33B, LINC01017, LINC02162, PDCD6-DT, MARCHF11-DT, LOC110120695, LOC108254683, AHRR, CTD-2350J17.1, LINC01377, LOC112997551, LINC02150, LINC02123, LINC02102, LOC116158512, MIR10522, LOC112997548, LINC01019, ADAMTS16-DT, LOC112997549, LINC02111, LINC01511, LPCAT1, LINC01194, ZNF622, NDUFS6, MIR4278, DNAH5, LOC113002587, LOC121056761, SNORD141B, MIR6131, LINC01018, LOC105374620, CEP72, ROPN1L, LOC100506688, ATPSCKMT, SNORD123, LINC02212, PDCD6, OTULIN, LOC112997585, RETREG1-AS1, LOC112997593, LINC02063, LOC110120635, LOC107457585, TAS2R1, LINC02221, LOC113002586, EXOC3, CCT5, RETREG1, LOC121725198, LINC02199
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000059581
24.
GRCh37:
Chr5:49893-16908907
GRCh38:
Chr5:49778-16908798
LINC02213, SEMA5A, CCT5, LINC01018, MTRR, LOC105374618, CLPTM1L, LOC121725198, SNORD170, LOC112997550, EXOC3, SLC9A3-AS1, LOC110806263, ADCY2, LOC112997548, TENT4A, RETREG1-AS1, LINC02123, LINC02199, NKD2, ZDHHC11B, SEMA5A-AS1, PDCD6-AHRR, MARCHF11-DT, LOC114827841, ZDHHC11, LOC121725197, OTULINL, LOC110120635, MIR4457, SLC6A3, LINC01020, BRD9, RETREG1, LOC121056759, CTNND2, LOC107457585, CTD-2350J17.1, LINC02221, LINC02112, LOC116158512, MIR4278, MIR4635, EXOC3-AS1, LOC112997586, PDCD6-DT, MIR4636, ICE1, IRX4, MIR4277, LINC02063, LINC02162, MED10, TERT, ZNF622, CCDC127, PP7080, MIR4456, DAP-DT, LOC112997593, SLC12A7, LOC108251796, PLEKHG4B, MNS16A, SNORD123, LOC113002587, ANKH, LINC01017, NDUFS6, LINC02226, CTD-2194D22.4, TRIP13, NSUN2, LOC100130744, MIR4637, LOC105374620, LINC02236, LOC100506688, CTD-3080P12.3, LINC02145, CEP72-DT, LINC01019, LINC02220, LOC110120722, LINC02102, LOC112997549, SLC9A3, MIR10397, LINC02150, OTULIN, DNAH5, LOC121056760, LOC112997551, LINC02149, SLC6A18, FASTKD3, ANKRD33B, LOC110121060, CMBL, LOC107758904, LINC02114, PDCD6, LINC01511, MIR887, LRRC14B, SNHG18, ROPN1L, LINC02142, LOC110806264, IRX4-AS1, LINC01377, MRPL36, FBXL7, ATPSCKMT, LINC02116, LINC01194, MIR4458, LOC116158511, TAS2R1, MIR4458HG, LINC02212, ROPN1L-AS1, IRX2, MYO10, C5orf38, LOC110120713, LOC113002586, TPPP, C5orf49, UBE2QL1, SDHA, ADAMTS16, LOC110120760, SLC6A19, LSINCT5, LPCAT1, SNORD141B, OTULIN-DT, TRIO, IRX1, MIR6075, LOC110120695, MARCHF6, CEP72, MIR6131, LOC111828522, MARCHF11, AHRR, SRD5A1, ADAMTS16-DT, LINC02121, LOC100506858, DAP, LOC121056758
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000059579
25.
GRCh37:
Chr5:50093-15678560
GRCh38:
Chr5:49978-15678451
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000161034
26.
GRCh37:
Chr5:50093-30112642
GRCh38:
Chr5:49978-30112535
ADAMTS16, ADAMTS16-DT, ADCY2, AHRR, ANKH, ANKRD33B, ATPSCKMT, BASP1, BASP1-AS1, BRD9, C5orf38, C5orf49, CCDC127, CCT5, CDH10, CDH12, CDH18, CDH18-AS1, CDH9, CEP72, CEP72-DT, CLPTM1L, CMBL, CTD-2194D22.4, CTD-2350J17.1, CTD-3080P12.3, CTNND2, DAP, DAP-DT, DNAH5, EXOC3, EXOC3-AS1, FASTKD3, FBXL7, H3Y1, H3Y2, ICE1, IRX1, IRX2, IRX4, IRX4-AS1, LINC01017, LINC01018, LINC01019, LINC01020, LINC01194, LINC01377, LINC01511, LINC02063, LINC02064, LINC02102, LINC02103, LINC02109, LINC02111, LINC02112, LINC02114, LINC02116, LINC02121, LINC02123, LINC02142, LINC02145, LINC02146, LINC02149, LINC02150, LINC02162, LINC02199, LINC02211, LINC02212, LINC02213, LINC02217, LINC02218, LINC02220, LINC02221, LINC02223, LINC02226, LINC02228, LINC02236, LINC02239, LINC02241, LINC02899, LOC100130744, LOC100506688, LOC100506858, LOC101929645, LOC105374618, LOC105374620, LOC105374704, LOC107457585, LOC107758904, LOC108175340, LOC108175341, LOC108251796, LOC108254683, LOC110120635, LOC110120695, LOC110120713, LOC110120722, LOC110120760, LOC110121060, LOC110806263, LOC110806264, LOC111828522, LOC112997548, LOC112997549, LOC112997550, LOC112997551, LOC112997585, LOC112997586, LOC112997587, LOC112997588, LOC112997593, LOC113002586, LOC113002587, LOC114827841, LOC116158511, LOC116158512, LOC121056758, LOC121056759, LOC121056760, LOC121056761, LOC121725197, LOC121725198, LPCAT1, LRRC14B, LSINCT5, MARCHF11, MARCHF11-DT, MARCHF6, MED10, MIR10397, MIR10522, MIR4277, MIR4278, MIR4456, MIR4457, MIR4458, MIR4458HG, MIR4635, MIR4636, MIR4637, MIR6075, MIR6131, MIR887, MNS16A, MRPL36, MTRR, MYO10, NDUFS6, NKD2, NSUN2, OTULIN, OTULIN-DT, OTULINL, PDCD6, PDCD6-AHRR, PDCD6-DT, PLEKHG4B, PP7080, PRDM9, PURPL, RETREG1, RETREG1-AS1, ROPN1L, ROPN1L-AS1, SDHA, SEMA5A, SEMA5A-AS1, SLC12A7, SLC6A18, SLC6A19, SLC6A3, SLC9A3, SLC9A3-AS1, SNHG18, SNORA105A, SNORD123, SNORD141B, SNORD170, SRD5A1, TAS2R1, TENT4A, TERT, TPPP, TRIO, TRIP13, UBE2QL1, ZDHHC11, ZDHHC11B, ZNF622
See casesPathogenic
(Oct 20, 2010)
no assertion criteria providedVCV000146618
27.
GRCh37:
Chr5:50093-46115086
GRCh38:
Chr5:49978-46114984
ADAMTS12, ADAMTS16, ADAMTS16-DT, ADCY2, AGXT2, AHRR, AMACR, ANKH, ANKRD33B, ANXA2R, ATPSCKMT, BASP1, BASP1-AS1, BRD9, BRIX1, C1QTNF3, C1QTNF3-AMACR, C5orf22, C5orf34, C5orf34-AS1, C5orf38, C5orf49, C6, C7, C9, CAPSL, CARD6, CCDC127, CCDC152, CCL28, CCT5, CDH10, CDH12, CDH18, CDH18-AS1, CDH6, CDH9, CEP72, CEP72-DT, CLPTM1L, CMBL, CPLANE1, CTD-2194D22.4, CTD-2350J17.1, CTD-3080P12.3, CTNND2, DAB2, DAP, DAP-DT, DNAH5, DNAJC21, DROSHA, EGFLAM, EGFLAM-AS1, EGFLAM-AS2, EGFLAM-AS4, EXOC3, EXOC3-AS1, FASTKD3, FBXL7, FBXO4, FGF10, FGF10-AS1, FGF10-INT1, FLJ32255, FYB1, GDNF, GDNF-AS1, GHR, GOLPH3, H3Y1, H3Y2, HCN1, HMGCS1, ICE1, IL7R, IRX1, IRX2, IRX4, IRX4-AS1, LIFR, LIFR-AS1, LINC00603, LINC00604, LINC01017, LINC01018, LINC01019, LINC01020, LINC01194, LINC01265, LINC01377, LINC01511, LINC02061, LINC02063, LINC02064, LINC02102, LINC02103, LINC02104, LINC02107, LINC02109, LINC02110, LINC02111, LINC02112, LINC02114, LINC02116, LINC02119, LINC02120, LINC02121, LINC02123, LINC02142, LINC02145, LINC02146, LINC02149, LINC02150, LINC02160, LINC02162, LINC02199, LINC02211, LINC02212, LINC02213, LINC02217, LINC02218, LINC02220, LINC02221, LINC02223, LINC02224, LINC02226, LINC02228, LINC02236, LINC02239, LINC02241, LINC02899, LMBRD2, LOC100130744, LOC100132356, LOC100506406, LOC100506548, LOC100506639, LOC100506688, LOC100506858, LOC101926960, LOC101929645, LOC105374618, LOC105374620, LOC105374704, LOC105374727, LOC107457585, LOC107758904, LOC107963949, LOC107963950, LOC108175340, LOC108175341, LOC108251796, LOC108254683, LOC108281130, LOC108348025, LOC110120635, LOC110120690, LOC110120695, LOC110120713, LOC110120722, LOC110120760, LOC110121060, LOC110806263, LOC110806264, LOC111501791, LOC111556114, LOC111828522, LOC112997548, LOC112997549, LOC112997550, LOC112997551, LOC112997585, LOC112997586, LOC112997587, LOC112997588, LOC112997589, LOC112997590, LOC112997591, LOC112997592, LOC112997593, LOC113002586, LOC113002587, LOC114004392, LOC114004393, LOC114803477, LOC114827820, LOC114827841, LOC116158511, LOC116158512, LOC116158513, LOC116158514, LOC121056758, LOC121056759, LOC121056760, LOC121056761, LOC121056762, LOC121056763, LOC121056764, LOC121725197, LOC121725198, LOC121725199, LOC121725200, LOC121725201, LOC121725202, LOC121725203, LOC121725204, LOC153684, LOC648987, LPCAT1, LRRC14B, LSINCT5, MARCHF11, MARCHF11-DT, MARCHF6, MED10, MIR10397, MIR10522, MIR3650, MIR4277, MIR4278, MIR4279, MIR4456, MIR4457, MIR4458, MIR4458HG, MIR4635, MIR4636, MIR4637, MIR579, MIR580, MIR6075, MIR6131, MIR887, MNS16A, MROH2B, MRPL36, MRPS30, MRPS30-DT, MTMR12, MTRR, MYO10, NADK2, NADK2-AS1, NDUFS6, NIM1K, NIPBL, NIPBL-DT, NKD2, NNT, NNT-AS1, NPR3, NSUN2, NUP155, OSMR, OSMR-DT, OTULIN, OTULIN-DT, OTULINL, OXCT1, OXCT1-AS1, PAIP1, PDCD6, PDCD6-AHRR, PDCD6-DT, PDZD2, PLCXD3, PLEKHG4B, PP7080, PRDM9, PRKAA1, PRLR, PTGER4, PURPL, RAD1, RAI14, RAI14-DT, RANBP3L, RETREG1, RETREG1-AS1, RICTOR, RIMOC1, ROPN1L, ROPN1L-AS1, RPL37, RXFP3, SDHA, SELENOP, SEMA5A, SEMA5A-AS1, SKP2, SLC12A7, SLC1A3, SLC45A2, SLC6A18, SLC6A19, SLC6A3, SLC9A3, SLC9A3-AS1, SNHG18, SNORA105A, SNORD123, SNORD141B, SNORD170, SNORD72, SPEF2, SRD5A1, SUB1, TARS1, TAS2R1, TENT4A, TERT, TMEM267, TPPP, TRIO, TRIP13, TTC23L, TTC23L-AS1, TTC33, UBE2QL1, UGT3A1, UGT3A2, WDR70, ZDHHC11, ZDHHC11B, ZFR, ZNF131, ZNF622
See casesPathogenic
(Jul 30, 2009)
no assertion criteria providedVCV000146130
28.
GRCh37:
Chr5:50093-15678560
GRCh38:
Chr5:49978-15678451
See casesPathogenic
(May 27, 2010)
no assertion criteria providedVCV000032815
29.
GRCh37:
Chr5:54954-35680947
GRCh38:
Chr5:54839-35680845