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VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
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
2.
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
3.
GRCh37:
Chr5:54954-45649963
GRCh38:
Chr5:54839-45649861
LOC110120713, LOC121725197, LINC02112, ADAMTS16-DT, CDH10, LINC02104, LINC02119, SEMA5A, LINC02150, FGF10, LOC112997585, LINC01020, MIR4635, TTC33, LOC110120722, TMEM267, FASTKD3, MIR4637, NUP155, LINC02899, IRX1, NIPBL-DT, LOC100130744, LOC121056759, LINC01017, LINC02102, LINC02107, TARS1, EGFLAM-AS1, LOC121056763, SLC45A2, UBE2QL1, NKD2, LOC107758904, C5orf34, ZDHHC11B, MIR10522, NADK2, LOC111556114, SLC9A3-AS1, LINC02123, GHR, LOC107963950, CCT5, MRPS30-DT, LOC113002586, MIR4457, LOC105374620, LOC121056762, SUB1, CCDC152, CDH18-AS1, RICTOR, LIFR-AS1, CDH18, LOC110121060, C5orf34-AS1, ADAMTS12, LINC02142, CEP72-DT, NSUN2, C6, LINC02145, PAIP1, CCL28, LOC100506406, NPR3, PDCD6-AHRR, LINC00604, LINC02120, MYO10, MTMR12, SELENOP, DAP, LOC121056761, LINC02224, LOC112997549, LOC112997586, PLCXD3, RETREG1-AS1, MIR6075, SLC1A3, MNS16A, LOC121056760, SLC6A19, C5orf38, SLC6A3, LINC02146, NADK2-AS1, OXCT1-AS1, CAPSL, OTULIN-DT, LOC121725198, TRIO, LOC121725201, MED10, LOC648987, LINC02162, LINC02110, IRX4, ATPSCKMT, LINC01377, LOC105374704, LOC108348025, MIR6131, SRD5A1, LOC114803477, RAD1, DNAH5, MARCHF6, LINC01265, WDR70, RAI14-DT, LOC105374727, RIMOC1, LINC02226, C5orf22, EXOC3-AS1, SNORD123, LOC100132356, LINC01019, ANKRD33B, DAB2, LOC100506548, CDH12, SLC9A3, LMBRD2, IRX4-AS1, MRPL36, ZDHHC11, LOC116158513, MIR4458HG, TTC23L, FGF10-AS1, SNHG18, LINC02236, LRRC14B, BRD9, MARCHF11, HCN1, RAI14, LOC108281130, TENT4A, PP7080, SLC6A18, LOC108254683, LOC121056758, UGT3A2, LOC108175340, NDUFS6, LOC121725200, IL7R, TAS2R1, GDNF, LOC112997590, ZFR, LOC121725203, LINC02111, H3Y1, LOC121056764, H3Y2, DAP-DT, LINC02103, TTC23L-AS1, CTD-2350J17.1, LOC105374618, GOLPH3, EXOC3, LOC114004393, TRIP13, LOC114827820, DROSHA, LOC111828522, FYB1, CTD-3080P12.3, MRPS30, FLJ32255, TERT, LINC02220, C5orf49, LOC112997592, LOC108251796, C1QTNF3-AMACR, LOC100506688, LOC111501791, LOC112997548, AGXT2, LOC101929645, LSINCT5, NIPBL, BRIX1, NIM1K, LOC153684, LINC02063, LINC02121, PTGER4, LOC112997587, LINC02211, LOC107963949, MIR4458, LOC121725199, LOC110120635, CLPTM1L, LINC01511, CTD-2194D22.4, DNAJC21, PDCD6, LINC02149, MIR887, BASP1-AS1, MIR4279, MIR3650, UGT3A1, ROPN1L, HMGCS1, NNT, LOC112997589, LOC110806264, OTULINL, MARCHF11-DT, CEP72, MIR4277, LOC112997591, PURPL, LOC110120690, LOC112997550, LOC108175341, LINC02239, EGFLAM-AS4, LIFR, PDZD2, CCDC127, LOC121725202, MIR580, LINC02213, LOC112997551, LOC113002587, FBXO4, ANXA2R, LINC02212, RETREG1, LINC02114, SPEF2, SDHA, NNT-AS1, OSMR-DT, C9, LOC110806263, LINC02199, LPCAT1, ADAMTS16, LOC101926960, IRX2, ZNF131, OSMR, SKP2, CDH9, SNORA105A, PLEKHG4B, LOC100506639, LOC110120760, C1QTNF3, LOC116158514, CTNND2, SNORD72, CARD6, LINC02160, PRDM9, GDNF-AS1, LINC02221, SLC12A7, MTRR, CPLANE1, LOC114004392, LOC112997593, PDCD6-DT, MIR4278, BASP1, EGFLAM-AS2, LOC121725204, LOC116158512, ZNF622, TPPP, FGF10-INT1, PRLR, MIR4456, LINC02109, RPL37, ADCY2, LINC02116, MROH2B, LINC01194, CMBL, LOC110120695, C7, EGFLAM, LINC02064, RANBP3L, LINC02061, CDH6, LINC02241, MIR4636, LINC02223, LINC02217, ROPN1L-AS1, LINC00603, OTULIN, LOC112997588, ICE1, MIR10397, OXCT1, FBXL7, ANKH, LINC02218, LINC02228, LOC114827841, LINC01018, AMACR, LOC107457585, LOC100506858, SNORD141B, SEMA5A-AS1, MIR579, PRKAA1, AHRR, RXFP3, LOC116158511, SNORD170
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000058067
4.
GRCh37:
Chr5:35201661-61198968
GRCh38:
Chr5:35201559-61903141
ACTBL2, ANKRD55, ANXA2R, ARL15, C5orf34, C5orf34-AS1, C5orf64, C5orf64-AS1, C5orf67, C6, C7, C9, CAPSL, CARD6, CCDC152, CCL28, CCNO, CDC20B, CPLANE1, CREST1, CREST2, CREST3, DAB2, DDX4, DEPDC1B, DHX29, EGFLAM, EGFLAM-AS1, EGFLAM-AS2, EGFLAM-AS4, ELOVL7, EMB, ERCC8, ERCC8-AS1, ESM1, FBXO4, FGF10, FGF10-AS1, FGF10-INT1, FLJ32255, FST, FYB1, GAPT, GDNF, GDNF-AS1, GHR, GPBP1, GPX8, GZMA, GZMK, HCN1, HMGCS1, HSPB3, IL31RA, IL6ST, IL6ST-DT, IL7R, ISL1, ISL1-DT, ITGA1, ITGA2, LIFR, LIFR-AS1, LINC00603, LINC00604, LINC01033, LINC01265, LINC01948, LINC02057, LINC02101, LINC02104, LINC02105, LINC02106, LINC02107, LINC02108, LINC02110, LINC02118, LINC02119, LINC02224, LINC02225, LINCR-0003, LMBRD2, LOC100132356, LOC100506406, LOC100506548, LOC100506639, LOC101926960, LOC101928505, LOC101928651, LOC102467080, LOC102467081, LOC105374727, LOC105378979, LOC106029242, LOC107963949, LOC107963950, LOC108281172, LOC108348025, LOC109286569, LOC110120690, LOC110120697, LOC110120712, LOC110121020, LOC110121055, LOC110121170, LOC111365172, LOC111365215, LOC111501791, LOC111556114, LOC111556121, LOC112997589, LOC112997590, LOC112997591, LOC112997592, LOC112997594, LOC112997595, LOC112997596, LOC113002585, LOC114004392, LOC114004393, LOC114004394, LOC116158513, LOC116158514, LOC116158515, LOC116158516, LOC116158517, LOC121056762, LOC121056763, LOC121056764, LOC121056765, LOC121056766, LOC121725201, LOC121725202, LOC121725203, LOC121725204, LOC153684, LOC648987, MAP3K1, MCIDAS, MIER3, MIR3650, MIR4459, MIR449A, MIR449B, MIR449C, MIR548AE2, MIR5687, MIR580, MIR581, MIR582, MOCS2, MOCS2-DT, MROH2B, MRPS30, MRPS30-DT, MTREX, NADK2, NADK2-AS1, NDUFAF2, NDUFS4, NIM1K, NIPBL, NIPBL-DT, NNT, NNT-AS1, NUP155, OSMR, OSMR-DT, OXCT1, OXCT1-AS1, PAIP1, PARP8, PART1, PDE4D, PELO, PLCXD3, PLK2, PLPP1, PRKAA1, PRLR, PTGER4, RAB3C, RANBP3L, RICTOR, RIMOC1, RPL37, SELENOP, SETD9, SKP2, SLC1A3, SLC38A9, SMIM15, SMIM15-AS1, SNORD72, SNX18, SPEF2, TMEM267, TTC33, UGT3A1, UGT3A2, WDR70, ZNF131, ZSWIM6
See casesPathogenic
(May 6, 2011)
no assertion criteria providedVCV000148227
5.
GRCh37:
Chr5:35700582-45260131
GRCh38:
Chr5:35700480-45260029
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000058092
6.
GRCh37:
Chr5:36374209-50399675
GRCh38:
Chr5:36374107-51103841
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000058093
7.
GRCh37:
Chr5:37016145-39383383
GRCh38:
Chr5:37016043-39383281
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000058094
8.
GRCh37:
Chr5:38400259-38594081
GRCh38:
Chr5:38400157-38593979
EGFLAM, EGFLAM-AS1, EGFLAM-AS2, LIFR, LIFR-AS1, MIR3650See casesUncertain significance
(Apr 30, 2011)
no assertion criteria providedVCV000151668
9.
GRCh37:
Chr5:38475056-38475057
GRCh38:
Chr5:38474954-38474955
LIFRStüve-Wiedemann syndromeLikely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000369474
10.
GRCh37:
Chr5:38475133
GRCh38:
Chr5:38475031
LIFRStüve-Wiedemann syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000353521
11.
GRCh37:
Chr5:38475206
GRCh38:
Chr5:38475104
LIFRStüve-Wiedemann syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000907136
12.
GRCh37:
Chr5:38475214
GRCh38:
Chr5:38475112
LIFRStüve-Wiedemann syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000907137
13.
GRCh37:
Chr5:38475302
GRCh38:
Chr5:38475200
LIFRStüve-Wiedemann syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000907138
14.
GRCh37:
Chr5:38475311
GRCh38:
Chr5:38475209
LIFRStüve-Wiedemann syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000907139
15.
GRCh37:
Chr5:38475317
GRCh38:
Chr5:38475215
LIFRStüve-Wiedemann syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000903783
16.
GRCh37:
Chr5:38475381
GRCh38:
Chr5:38475279
LIFRStüve-Wiedemann syndromeBenign
(Jan 12, 2018)
criteria provided, single submitterVCV000353522
17.
GRCh37:
Chr5:38475449
GRCh38:
Chr5:38475347
LIFRStüve-Wiedemann syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000903784
18.
GRCh37:
Chr5:38475471
GRCh38:
Chr5:38475369
LIFRStüve-Wiedemann syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000903785
19.
GRCh37:
Chr5:38475507
GRCh38:
Chr5:38475405
LIFRStüve-Wiedemann syndromeBenign
(Jan 13, 2018)
criteria provided, single submitterVCV000353523
20.
GRCh37:
Chr5:38475557
GRCh38:
Chr5:38475455
LIFRStüve-Wiedemann syndromeBenign
(Jan 13, 2018)
criteria provided, single submitterVCV000353524
21.
GRCh37:
Chr5:38475597
GRCh38:
Chr5:38475495
LIFRStüve-Wiedemann syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000353525
22.
GRCh37:
Chr5:38475655-38475656
GRCh38:
Chr5:38475553-38475554
LIFRStüve-Wiedemann syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000353526
23.
GRCh37:
Chr5:38475711
GRCh38:
Chr5:38475609
LIFRStüve-Wiedemann syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000353527
24.
GRCh37:
Chr5:38475772
GRCh38:
Chr5:38475670
LIFRStüve-Wiedemann syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000905686
25.
GRCh37:
Chr5:38475901
GRCh38:
Chr5:38475799
LIFRStüve-Wiedemann syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000353528
26.
GRCh37:
Chr5:38475904
GRCh38:
Chr5:38475802
LIFRStüve-Wiedemann syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000353529
27.
GRCh37:
Chr5:38475929
GRCh38:
Chr5:38475827
LIFRStüve-Wiedemann syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000353530
28.
GRCh37:
Chr5:38476027
GRCh38:
Chr5:38475925
LIFRStüve-Wiedemann syndromeBenign
(Jan 13, 2018)
criteria provided, single submitterVCV000353531
29.
GRCh37:
Chr5:38476030
GRCh38:
Chr5:38475928
LIFRStüve-Wiedemann syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000353532
30.
GRCh37:
Chr5:38476063
GRCh38:
Chr5:38475961
LIFRStüve-Wiedemann syndromeBenign
(Jan 12, 2018)
criteria provided, single submitterVCV000353533
31.
GRCh37:
Chr5:38476155
GRCh38:
Chr5:38476053
LIFRStüve-Wiedemann syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000353534
32.
GRCh37:
Chr5:38476276
GRCh38:
Chr5:38476174
LIFRStüve-Wiedemann syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000906209
33.
GRCh37:
Chr5:38476341
GRCh38:
Chr5:38476239
LIFRStüve-Wiedemann syndromeBenign
(Jan 12, 2018)
criteria provided, single submitterVCV000353535
34.
GRCh37:
Chr5:38476472
GRCh38:
Chr5:38476370
LIFRStüve-Wiedemann syndromeBenign
(Jan 12, 2018)
criteria provided, single submitterVCV000353536
35.
GRCh37:
Chr5:38476491
GRCh38:
Chr5:38476389
LIFRStüve-Wiedemann syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000906210
36.
GRCh37:
Chr5:38476513
GRCh38:
Chr5:38476411
LIFRStüve-Wiedemann syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000353537
37.
GRCh37:
Chr5:38476528
GRCh38:
Chr5:38476426
LIFRStüve-Wiedemann syndromeBenign
(Jan 13, 2018)
criteria provided, single submitterVCV000353538
38.
GRCh37:
Chr5:38476572
GRCh38:
Chr5:38476470
LIFRStüve-Wiedemann syndromeLikely benign
(Jan 13, 2018)
criteria provided, single submitterVCV000353539
39.
GRCh37:
Chr5:38476590
GRCh38:
Chr5:38476488
LIFRStüve-Wiedemann syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000906211
40.
GRCh37:
Chr5:38476624-38476625
GRCh38:
Chr5:38476522-38476523
LIFRStüve-Wiedemann syndromeBenign
(Jun 14, 2016)
criteria provided, single submitterVCV000353540
41.
GRCh37:
Chr5:38476637
GRCh38:
Chr5:38476535
LIFRStüve-Wiedemann syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000907201
42.
GRCh37:
Chr5:38476680
GRCh38:
Chr5:38476578
LIFRStüve-Wiedemann syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000353541
43.
GRCh37:
Chr5:38476693
GRCh38:
Chr5:38476591
LIFRStüve-Wiedemann syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000907202
44.
GRCh37:
Chr5:38476770-38476771
GRCh38:
Chr5:38476668-38476669
LIFRStüve-Wiedemann syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000353543
45.
GRCh37:
Chr5:38476770
GRCh38:
Chr5:38476668
LIFRStüve-Wiedemann syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000353542
46.
GRCh37:
Chr5:38476843
GRCh38:
Chr5:38476741
LIFRStüve-Wiedemann syndromeBenign
(Jan 12, 2018)
criteria provided, single submitterVCV000353544
47.
GRCh37:
Chr5:38476856
GRCh38:
Chr5:38476754
LIFRStüve-Wiedemann syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000907203
48.
GRCh37:
Chr5:38476893
GRCh38:
Chr5:38476791
LIFRStüve-Wiedemann syndromeBenign
(Jan 13, 2018)
criteria provided, single submitterVCV000353545
49.
GRCh37:
Chr5:38476896
GRCh38:
Chr5:38476794
LIFRStüve-Wiedemann syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000353546
50.
GRCh37:
Chr5:38476898
GRCh38:
Chr5:38476796
LIFRStüve-Wiedemann syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000907204
51.
GRCh37:
Chr5:38476962
GRCh38:
Chr5:38476860
LIFRStüve-Wiedemann syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000903858
52.
GRCh37:
Chr5:38477079
GRCh38:
Chr5:38476977
LIFRStüve-Wiedemann syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000353547
53.
GRCh37:
Chr5:38477259
GRCh38:
Chr5:38477157
LIFRStüve-Wiedemann syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000353548
54.
GRCh37:
Chr5:38477269
GRCh38:
Chr5:38477167
LIFRStüve-Wiedemann syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000353549
55.
GRCh37:
Chr5:38477280
GRCh38:
Chr5:38477178
LIFRStüve-Wiedemann syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000353550
56.
GRCh37:
Chr5:38477283
GRCh38:
Chr5:38477181
LIFRStüve-Wiedemann syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000353551
57.
GRCh37:
Chr5:38477292
GRCh38:
Chr5:38477190
LIFRStüve-Wiedemann syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000353552
58.
GRCh37:
Chr5:38477351
GRCh38:
Chr5:38477249
LIFRStüve-Wiedemann syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000903859
59.
GRCh37:
Chr5:38477433
GRCh38:
Chr5:38477331
LIFRStüve-Wiedemann syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000353553
60.
GRCh37:
Chr5:38477454
GRCh38:
Chr5:38477352
LIFRStüve-Wiedemann syndromeBenign
(Jan 12, 2018)
criteria provided, single submitterVCV000353554
61.
GRCh37:
Chr5:38477543
GRCh38:
Chr5:38477441
LIFRStüve-Wiedemann syndromeLikely benign
(Jan 13, 2018)
criteria provided, single submitterVCV000905754
62.
GRCh37:
Chr5:38477641
GRCh38:
Chr5:38477539
LIFRStüve-Wiedemann syndromeBenign
(Jan 13, 2018)
criteria provided, single submitterVCV000353555
63.
GRCh37:
Chr5:38477673
GRCh38:
Chr5:38477571
LIFRStüve-Wiedemann syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000353556
64.
GRCh37:
Chr5:38477677
GRCh38:
Chr5:38477575
LIFRStüve-Wiedemann syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000905755
65.
GRCh37:
Chr5:38477845
GRCh38:
Chr5:38477743
LIFRStüve-Wiedemann syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000905756
66.
GRCh37:
Chr5:38477846
GRCh38:
Chr5:38477744
LIFRStüve-Wiedemann syndromeLikely benign
(Jan 13, 2018)
criteria provided, single submitterVCV000353557
67.
GRCh37:
Chr5:38477847
GRCh38:
Chr5:38477745
LIFRStüve-Wiedemann syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000353558
68.
GRCh37:
Chr5:38477863
GRCh38:
Chr5:38477761
LIFRStüve-Wiedemann syndromeBenign
(Jan 12, 2018)
criteria provided, single submitterVCV000353559
69.
GRCh37:
Chr5:38477944
GRCh38:
Chr5:38477842
LIFRStüve-Wiedemann syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000906266
70.
GRCh37:
Chr5:38477949
GRCh38:
Chr5:38477847
LIFRStüve-Wiedemann syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000353560
71.
GRCh37:
Chr5:38478057-38478058
GRCh38:
Chr5:38477955-38477956
LIFRStüve-Wiedemann syndromeBenign
(Jun 14, 2016)
criteria provided, single submitterVCV000353561
72.
GRCh37:
Chr5:38478134
GRCh38:
Chr5:38478032
LIFRStüve-Wiedemann syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000906267
73.
GRCh37:
Chr5:38478227
GRCh38:
Chr5:38478125
LIFRStüve-Wiedemann syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000906268
74.
GRCh37:
Chr5:38478248
GRCh38:
Chr5:38478146
LIFRStüve-Wiedemann syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000906269
75.
GRCh37:
Chr5:38478322
GRCh38:
Chr5:38478220
LIFRStüve-Wiedemann syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000353562
76.
GRCh37:
Chr5:38478367
GRCh38:
Chr5:38478265
LIFRStüve-Wiedemann syndromeBenign
(Jan 13, 2018)
criteria provided, single submitterVCV000906270
77.
GRCh37:
Chr5:38478395
GRCh38:
Chr5:38478293
LIFRStüve-Wiedemann syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000353564
78.
GRCh37:
Chr5:38478395
GRCh38:
Chr5:38478293
LIFRStüve-Wiedemann syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000353563
79.
GRCh37:
Chr5:38478515
GRCh38:
Chr5:38478413
LIFRStüve-Wiedemann syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000907265
80.
GRCh37:
Chr5:38478534
GRCh38:
Chr5:38478432
LIFRStüve-Wiedemann syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000907266
81.
GRCh37:
Chr5:38478534
GRCh38:
Chr5:38478432
LIFRStüve-Wiedemann syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000353565
82.
GRCh37:
Chr5:38478535
GRCh38:
Chr5:38478433
LIFRStüve-Wiedemann syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000907267
83.
GRCh37:
Chr5:38478612
GRCh38:
Chr5:38478510
LIFRStüve-Wiedemann syndromeUncertain significance
(Apr 27, 2017)
criteria provided, single submitterVCV000907268
84.
GRCh37:
Chr5:38478623
GRCh38:
Chr5:38478521
LIFRStüve-Wiedemann syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000907269
85.
GRCh37:
Chr5:38478707-38478711
GRCh38:
Chr5:38478605-38478609
LIFRStüve-Wiedemann syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000353566
86.
GRCh37:
Chr5:38478787
GRCh38:
Chr5:38478685
LIFRStüve-Wiedemann syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000353567
87.
GRCh37:
Chr5:38478872
GRCh38:
Chr5:38478770
LIFRStüve-Wiedemann syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000903925
88.
GRCh37:
Chr5:38478951
GRCh38:
Chr5:38478849
LIFRStüve-Wiedemann syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000903926
89.
GRCh37:
Chr5:38478985
GRCh38:
Chr5:38478883
LIFRStüve-Wiedemann syndromeLikely benign
(Jan 13, 2018)
criteria provided, single submitterVCV000353568
90.
GRCh37:
Chr5:38479000
GRCh38:
Chr5:38478898
LIFRStüve-Wiedemann syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000353569
91.
GRCh37:
Chr5:38479086
GRCh38:
Chr5:38478984
LIFRStüve-Wiedemann syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000903927
92.
GRCh37:
Chr5:38479112
GRCh38:
Chr5:38479010
LIFRStüve-Wiedemann syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000903928
93.
GRCh37:
Chr5:38479127
GRCh38:
Chr5:38479025
LIFRStüve-Wiedemann syndromeLikely benign
(Jan 13, 2018)
criteria provided, single submitterVCV000903929
94.
GRCh37:
Chr5:38479130
GRCh38:
Chr5:38479028
LIFRStüve-Wiedemann syndromeLikely benign
(Jan 13, 2018)
criteria provided, single submitterVCV000353570
95.
GRCh37:
Chr5:38479221
GRCh38:
Chr5:38479119
LIFRStüve-Wiedemann syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000353571
96.
GRCh37:
Chr5:38479233
GRCh38:
Chr5:38479131
LIFRStüve-Wiedemann syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000353572
97.
GRCh37:
Chr5:38479260
GRCh38:
Chr5:38479158
LIFRStüve-Wiedemann syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000905813
98.
GRCh37:
Chr5:38479337
GRCh38:
Chr5:38479235
LIFRStüve-Wiedemann syndromeUncertain significance
(Apr 28, 2017)
criteria provided, single submitterVCV000905814
99.
GRCh37:
Chr5:38479558-38479559
GRCh38:
Chr5:38479456-38479457
LIFRStüve-Wiedemann syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000353573
100.
GRCh37:
Chr5:38479655
GRCh38:
Chr5:38479553
LIFRStüve-Wiedemann syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000353574
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