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Items: 1 to 100 of 1452

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr5:22149-73708550
GRCh38:
Chr5:22149-74412725
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, PELO-AS1, PIK3R1, PLCXD3, PLEKHG4B, PLK2, PLPP1, 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, SLC9A3-OT1, SMIM15, SMIM15-AS1, SMN1, SMN2, SNHG18, SNORA105A, SNORA50D, SNORD123, SNORD13B-1, SNORD13B-2, SNORD141B, SNORD170, SNORD72, SNX18, SPEF2, SRD5A1, SREK1, SREK1IP1, SUB1, TAF11L10, TAF11L11, TAF11L12, TAF11L13, TAF11L14, TAF11L2, TAF11L3, TAF11L4, TAF11L5, TAF11L6, TAF11L7, TAF11L8, TAF11L9, TAF9, TARS1, TAS2R1, TENT4A, TERLR1, TERT, TMEM171, TMEM174, TMEM267, TNPO1, TNPO1-DT, TPPP, TRAPPC13, TRIM23, TRIO, TRIP13, TRK-CTT9-1, TTC23L, TTC23L-AS1, TTC33, UBE2QL1, UGT3A1, UGT3A2, UTP15, WDR70, ZDHHC11, ZDHHC11B, ZFR, ZNF131, ZNF366, ZNF622, ZSWIM6, 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, IRX2-DT, 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, LINC02982, LINC02996, LINC02997, LINC02998, LMBRD2, LNCBRM, LOC100130744, LOC100132356, LOC100272216, LOC100506548, LOC100506639, LOC100506858, LOC101928505, LOC101928651, LOC101928924, LOC101929645, LOC102467081, LOC102503427, LOC105374618, LOC105374620, LOC105374704, 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, LOC123493256, LOC123493257, LOC123493258, LOC123493259, LOC123493260, LOC123493261, LOC123493262, LOC123493263, LOC123493264, LOC123493265, LOC123493266, LOC123493267, LOC123493268, LOC123493269, LOC123493270, LOC123493271, LOC123493272, LOC123493273, LOC123493274, LOC123493275, LOC123493276, LOC123493277, LOC123493278, LOC123493279, LOC123493280, LOC123493281, LOC123493282, LOC123493283, LOC123493284, LOC123493285, LOC123493286, LOC123493287, LOC123493288, LOC123493289, LOC123493290, LOC123493291, LOC123493292, LOC123493293, LOC123493294, LOC123493295, LOC123493296, LOC123493297, LOC123493298, LOC123493299, LOC123493300, LOC123493301, LOC123493302, LOC123493303, LOC123493304, LOC123493305, LOC123493306, LOC123493307, LOC123493308, LOC123493309, LOC123493310, LOC123493311, LOC123493312, LOC123493313, LOC123493314, LOC123493315, LOC123493316, LOC123493317, LOC123493318, LOC123493319, LOC123493320, LOC123493321, LOC123493322, LOC123493323, LOC123493324, LOC123493325, LOC123493326, LOC123493327, LOC123493329, LOC123493330, LOC123493331, LOC123493332, LOC123493333, LOC123493334, LOC123493335, LOC123497905, LOC123497906, LOC123497907, LOC123497908, LOC123497909, LOC124901163, LOC124901178, LOC126807280, LOC126807281, LOC126807282, LOC126807283, LOC126807284, LOC126807285, LOC126807286, LOC126807287, LOC126807288, LOC126807289, LOC126807290, LOC126807291, LOC126807292, LOC126807293, LOC126807294, LOC126807295, LOC126807296, LOC126807297, LOC126807298, LOC126807299, LOC126807300, LOC126807301, LOC126807302, LOC126807303, LOC126807304, LOC126807305, LOC126807306, LOC126807307, LOC126807308, LOC126807309, LOC126807310, LOC126807311, LOC126807312, LOC126807313, LOC126807314, LOC126807315, LOC126807316, LOC126807317, LOC126807318, LOC126807319, LOC126807320, LOC126807321, LOC126807322, LOC126807323, LOC126807324, LOC126807325, LOC126807326, LOC126807327, LOC126807328, LOC126807329, LOC126807330, LOC126807331, LOC126807332, LOC126807333, LOC126807334, LOC126807335, LOC126807336, LOC126807337, LOC126807338, LOC126807339, LOC126807340, LOC126807341, LOC126807342, LOC126807343, LOC126807344, LOC126807345, LOC126807346, LOC126807347, LOC126807348, LOC126807349, LOC126807350, LOC126807351, LOC126807352, LOC126807353, LOC126807354, LOC126807355, LOC126807356, LOC126807357, LOC126807358, LOC126807359, LOC126807360, LOC126807361, LOC126807362, LOC126807363, LOC126807364, LOC126807365, LOC126807366, LOC126807367, LOC126807368, LOC126807369, LOC126807370, LOC126807371, LOC126807372, LOC126807373, LOC126807374, LOC126807375, LOC126807376, LOC126807377, LOC126807378, LOC126807379, LOC126807380, LOC126807381, LOC126807382, LOC126807383, LOC126807384, LOC126807385, LOC126807386, LOC126807387, LOC126807388, LOC126807389, LOC126807390, LOC126807391, LOC126807392, LOC126807393, LOC126807394, LOC126807395, LOC126807396, LOC126807397, LOC126807398, LOC126807399, LOC126807400, LOC126807401, LOC126807402, LOC126807403, LOC126807404, LOC126807405, LOC126807406, LOC126807407, LOC126807408, LOC126807409, LOC126807410, LOC126807411, LOC126807412, LOC126807413, LOC126807414, LOC126807415, LOC126807416, LOC126807417, LOC126807418, LOC126807419, LOC126807420, LOC126807421, LOC127402905, LOC128462395, LOC128667222, LOC128772262, LOC128772263, LOC128772264, LOC340090, LPCAT1, LRRC14B, LRRC70, LSINCT5, MAP1B, MAP3K1, MARCHF11, MARCHF11-DT, MARCHF6, MARCHF6-DT, MARVELD2, MAST4, MAST4-AS1, MCCC2, MCIDAS, MED10, MIER3, MIR10397, MIR10522, MIR3650, MIR4277, MIR4278, MIR4279, MIR4456, MIR4457, MIR4458, MIR4458HG, MIR4459, ACTBL2, ADAMTS12, ADAMTS16, ADAMTS16-DT, ADAMTS6, ADCY2, AGXT2, AHRR, AK6, AMACR, ANKH, ANKRA2, ANKRD33B, ANKRD55, ANXA2R, ANXA2R-AS1, ANXA2R-OT1, ARHGEF28, ARL15, ATPSCKMT, BASP1, BASP1-AS1, BDP1, BRD9, BRIX1, BTF3, C1QTNF3, C1QTNF3-AMACR, C5orf22, C5orf34, C5orf34-AS1, C5orf64, C5orf64-AS1, C5orf67, C6, C7, C9, CAPSL, CAPSL-DT, CARD6, CARTPT, CCDC125, CCDC127, CCDC152, CCL28, CCNB1, CCNO, CCT5, CD180, CDC20B, CDH10, CDH12, CDH18, CDH18-AS1, CDH6, CDH9, CDK7, CENPH, CENPK, CEP72, CEP72-DT, CFAP90, CLPTM1L, CMBL, CPLANE1, CPLANE1-AS1, CREST1, CREST2, CREST3, CTD-2194D22.4, CTD-2350J17.1, CTNND2, CWC27, DAB2, DAP, DAP-DT, DDX4, DEPDC1B, DHX29, DIMT1, DNAH5, DNAJC21, DROSHA, EGFLAM, EGFLAM-AS1, EGFLAM-AS2
See casesPathogenic
(Sep 21, 2012)
no assertion criteria provided
2.
GRCh37:
Chr5:50093-46115086
GRCh38:
Chr5:49978-46114984
ADAMTS12, ADAMTS16, ADAMTS16-DT, ADCY2, AGXT2, AHRR, AMACR, ANKH, ANKRD33B, ANXA2R, ANXA2R-AS1, ANXA2R-OT1, ATPSCKMT, BASP1, BASP1-AS1, BRD9, BRIX1, C1QTNF3, C1QTNF3-AMACR, C5orf22, C5orf34, C5orf34-AS1, C6, C7, C9, CAPSL, CAPSL-DT, CARD6, CCDC127, CCDC152, CCL28, CCT5, CDH10, CDH12, CDH18, CDH18-AS1, CDH6, CDH9, CEP72, CEP72-DT, CFAP90, CLPTM1L, CMBL, CPLANE1, CPLANE1-AS1, CTD-2194D22.4, CTD-2350J17.1, 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, IRX2-DT, 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, LINC02982, LINC02996, LMBRD2, LOC100130744, LOC100132356, LOC100506548, LOC100506639, LOC100506858, LOC101929645, LOC105374618, LOC105374620, LOC105374704, 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, LOC123493256, LOC123493257, LOC123493258, LOC123493259, LOC123493260, LOC123493261, LOC123493262, LOC123493263, LOC123493264, LOC123493265, LOC123493266, LOC123493267, LOC123493268, LOC123493269, LOC123493270, LOC123493271, LOC123493272, LOC123493273, LOC123493274, LOC123493275, LOC123493276, LOC123493277, LOC123493278, LOC123493279, LOC123493280, LOC123493281, LOC123493282, LOC123493283, LOC123493284, LOC123493285, LOC123493286, LOC123493287, LOC123493288, LOC123493289, LOC123493290, LOC123493291, LOC123493292, LOC123493293, LOC123493294, LOC123493295, LOC123493296, LOC123493297, LOC123493298, LOC123493299, LOC123493300, LOC123493301, LOC123493302, LOC123493303, LOC124901163, LOC124901178, LOC126807280, LOC126807281, LOC126807282, LOC126807283, LOC126807284, LOC126807285, LOC126807286, LOC126807287, LOC126807288, LOC126807289, LOC126807290, LOC126807291, LOC126807292, LOC126807293, LOC126807294, LOC126807295, LOC126807296, LOC126807297, LOC126807298, LOC126807299, LOC126807300, LOC126807301, LOC126807302, LOC126807303, LOC126807304, LOC126807305, LOC126807306, LOC126807307, LOC126807308, LOC126807309, LOC126807310, LOC126807311, LOC126807312, LOC126807313, LOC126807314, LOC126807315, LOC126807316, LOC126807317, LOC126807318, LOC126807319, LOC126807320, LOC126807321, LOC126807322, LOC126807323, LOC126807324, LOC126807325, LOC126807326, LOC126807327, LOC126807328, LOC126807329, LOC126807330, LOC126807331, LOC126807332, LOC126807333, LOC126807334, LOC126807335, LOC126807336, LOC126807337, LOC126807338, LOC126807339, LOC126807340, LOC126807341, LOC126807342, LOC126807343, LOC126807344, LOC126807345, LOC126807346, LOC126807347, LOC126807348, LOC126807349, LOC126807350, LOC126807351, LOC126807352, LOC126807353, LOC126807354, LOC126807355, LOC126807356, LOC126807357, LOC126807358, LOC126807359, LOC126807360, LOC126807361, LOC126807362, LOC126807363, LOC126807364, LOC126807365, LOC126807366, LOC126807367, LOC126807368, LOC126807369, LOC126807370, LOC126807371, LOC126807372, LOC126807373, LOC126807374, LOC126807375, LOC126807376, LOC126807377, LOC126807378, LOC126807379, LOC126807380, LOC126807381, LOC126807382, LOC128667222, LOC128772262, LOC128772263, LOC128772264, LPCAT1, LRRC14B, LSINCT5, MARCHF11, MARCHF11-DT, MARCHF6, MARCHF6-DT, 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, 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, SLC9A3-OT1, SNHG18, SNORA105A, SNORD123, SNORD141B, SNORD170, SNORD72, SPEF2, SRD5A1, SUB1, TAF11L10, TAF11L11, TAF11L12, TAF11L13, TAF11L14, TAF11L2, TAF11L3, TAF11L4, TAF11L5, TAF11L6, TAF11L7, TAF11L8, TAF11L9, TARS1, TAS2R1, TENT4A, TERLR1, TERT, TMEM267, TPPP, TRIO, TRIP13, TRK-CTT9-1, TTC23L, TTC23L-AS1, TTC33, UBE2QL1, UGT3A1, UGT3A2, WDR70, ZDHHC11, ZDHHC11B, ZFR, ZNF131, ZNF622
See casesPathogenic
(Jul 30, 2009)
no assertion criteria provided
3.
GRCh37:
Chr5:54954-45649963
GRCh38:
Chr5:54839-45649861
ADAMTS12, ADAMTS16, ADAMTS16-DT, ADCY2, AGXT2, AHRR, AMACR, ANKH, ANKRD33B, ANXA2R, ANXA2R-AS1, ANXA2R-OT1, ATPSCKMT, BASP1, BASP1-AS1, BRD9, BRIX1, C1QTNF3, C1QTNF3-AMACR, C5orf22, C5orf34, C5orf34-AS1, C6, C7, C9, CAPSL, CAPSL-DT, CARD6, CCDC127, CCDC152, CCL28, CCT5, CDH10, CDH12, CDH18, CDH18-AS1, CDH6, CDH9, CEP72, CEP72-DT, CFAP90, CLPTM1L, CMBL, CPLANE1, CPLANE1-AS1, CTD-2194D22.4, CTD-2350J17.1, 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, IRX2-DT, 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, LINC02982, LINC02996, LMBRD2, LOC100130744, LOC100132356, LOC100506548, LOC100506639, LOC100506858, LOC101929645, LOC105374618, LOC105374620, LOC105374704, 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, LOC123493256, LOC123493257, LOC123493258, LOC123493259, LOC123493260, LOC123493261, LOC123493262, LOC123493263, LOC123493264, LOC123493265, LOC123493266, LOC123493267, LOC123493268, LOC123493269, LOC123493270, LOC123493271, LOC123493272, LOC123493273, LOC123493274, LOC123493275, LOC123493276, LOC123493277, LOC123493278, LOC123493279, LOC123493280, LOC123493281, LOC123493282, LOC123493283, LOC123493284, LOC123493285, LOC123493286, LOC123493287, LOC123493288, LOC123493289, LOC123493290, LOC123493291, LOC123493292, LOC123493293, LOC123493294, LOC123493295, LOC123493296, LOC123493297, LOC123493298, LOC123493299, LOC123493300, LOC123493301, LOC123493302, LOC123493303, LOC124901163, LOC124901178, LOC126807280, LOC126807281, LOC126807282, LOC126807283, LOC126807284, LOC126807285, LOC126807286, LOC126807287, LOC126807288, LOC126807289, LOC126807290, LOC126807291, LOC126807292, LOC126807293, LOC126807294, LOC126807295, LOC126807296, LOC126807297, LOC126807298, LOC126807299, LOC126807300, LOC126807301, LOC126807302, LOC126807303, LOC126807304, LOC126807305, LOC126807306, LOC126807307, LOC126807308, LOC126807309, LOC126807310, LOC126807311, LOC126807312, LOC126807313, LOC126807314, LOC126807315, LOC126807316, LOC126807317, LOC126807318, LOC126807319, LOC126807320, LOC126807321, LOC126807322, LOC126807323, LOC126807324, LOC126807325, LOC126807326, LOC126807327, LOC126807328, LOC126807329, LOC126807330, LOC126807331, LOC126807332, LOC126807333, LOC126807334, LOC126807335, LOC126807336, LOC126807337, LOC126807338, LOC126807339, LOC126807340, LOC126807341, LOC126807342, LOC126807343, LOC126807344, LOC126807345, LOC126807346, LOC126807347, LOC126807348, LOC126807349, LOC126807350, LOC126807351, LOC126807352, LOC126807353, LOC126807354, LOC126807355, LOC126807356, LOC126807357, LOC126807358, LOC126807359, LOC126807360, LOC126807361, LOC126807362, LOC126807363, LOC126807364, LOC126807365, LOC126807366, LOC126807367, LOC126807368, LOC126807369, LOC126807370, LOC126807371, LOC126807372, LOC126807373, LOC126807374, LOC126807375, LOC126807376, LOC126807377, LOC126807378, LOC126807379, LOC126807380, LOC126807381, LOC128667222, LOC128772262, LOC128772263, LOC128772264, LPCAT1, LRRC14B, LSINCT5, MARCHF11, MARCHF11-DT, MARCHF6, MARCHF6-DT, 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, 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, SLC9A3-OT1, SNHG18, SNORA105A, SNORD123, SNORD141B, SNORD170, SNORD72, SPEF2, SRD5A1, SUB1, TAF11L10, TAF11L11, TAF11L12, TAF11L13, TAF11L14, TAF11L2, TAF11L3, TAF11L4, TAF11L5, TAF11L6, TAF11L7, TAF11L8, TAF11L9, TARS1, TAS2R1, TENT4A, TERLR1, TERT, TMEM267, TPPP, TRIO, TRIP13, TRK-CTT9-1, TTC23L, TTC23L-AS1, TTC33, UBE2QL1, UGT3A1, UGT3A2, WDR70, ZDHHC11, ZDHHC11B, ZFR, ZNF131, ZNF622
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
4.
GRCh37:
Chr5:35201661-61198968
GRCh38:
Chr5:35201559-61903141
ACTBL2, ANKRD55, ANXA2R, ANXA2R-AS1, ANXA2R-OT1, ARL15, C5orf34, C5orf34-AS1, C5orf64, C5orf64-AS1, C5orf67, C6, C7, C9, CAPSL, CAPSL-DT, CARD6, CCDC152, CCL28, CCNO, CDC20B, CPLANE1, CPLANE1-AS1, 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, LINC02996, LINC02998, LMBRD2, LNCBRM, LOC100132356, LOC100506548, LOC100506639, LOC101928505, LOC101928651, LOC102467081, 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, LOC123493287, LOC123493288, LOC123493289, LOC123493290, LOC123493291, LOC123493292, LOC123493293, LOC123493294, LOC123493295, LOC123493296, LOC123493297, LOC123493298, LOC123493299, LOC123493300, LOC123493301, LOC123493302, LOC123493303, LOC123493304, LOC123493305, LOC123493306, LOC123493307, LOC123493308, LOC123493309, LOC123493310, LOC123493311, LOC123493312, LOC123493313, LOC123493314, LOC123493315, LOC123493316, LOC123493317, LOC123493318, LOC123493319, LOC123493320, LOC123493321, LOC123493322, LOC126807357, LOC126807358, LOC126807359, LOC126807360, LOC126807361, LOC126807362, LOC126807363, LOC126807364, LOC126807365, LOC126807366, LOC126807367, LOC126807368, LOC126807369, LOC126807370, LOC126807371, LOC126807372, LOC126807373, LOC126807374, LOC126807375, LOC126807376, LOC126807377, LOC126807378, LOC126807379, LOC126807380, LOC126807381, LOC126807382, LOC126807383, LOC126807384, LOC126807385, LOC126807386, LOC126807387, LOC126807388, LOC126807389, LOC126807390, LOC126807391, LOC126807392, LOC126807393, LOC126807394, LOC126807395, LOC126807396, LOC126807397, LOC126807398, LOC126807399, LOC126807400, LOC126807401, LOC126807402, LOC126807403, LOC126807404, LOC126807405, LOC126807406, LOC126807407, LOC127402905, LOC128462395, LOC128667222, 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, PELO-AS1, 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 provided
5.
GRCh37:
Chr5:35700582-45260131
GRCh38:
Chr5:35700480-45260029
ANXA2R, ANXA2R-AS1, ANXA2R-OT1, C5orf34, C5orf34-AS1, C6, C7, C9, CAPSL, CAPSL-DT, CARD6, CCDC152, CCL28, CPLANE1, CPLANE1-AS1, DAB2, EGFLAM, EGFLAM-AS1, EGFLAM-AS2, EGFLAM-AS4, FBXO4, FGF10, FGF10-AS1, FGF10-INT1, FLJ32255, FYB1, GDNF, GDNF-AS1, GHR, HCN1, HMGCS1, IL7R, LIFR, LIFR-AS1, LINC00603, LINC00604, LINC01265, LINC02104, LINC02107, LINC02110, LINC02119, LINC02224, LINC02996, LMBRD2, LOC100132356, LOC100506548, LOC100506639, LOC107963949, LOC107963950, LOC108348025, LOC110120690, LOC111501791, LOC111556114, LOC112997589, LOC112997590, LOC112997591, LOC112997592, LOC114004392, LOC114004393, LOC116158513, LOC116158514, LOC121056762, LOC121056763, LOC121056764, LOC121725201, LOC121725202, LOC121725203, LOC121725204, LOC123493290, LOC123493291, LOC123493292, LOC123493293, LOC123493294, LOC123493295, LOC123493296, LOC123493297, LOC123493298, LOC123493299, LOC123493300, LOC123493301, LOC123493302, LOC123493303, LOC126807357, LOC126807358, LOC126807359, LOC126807360, LOC126807361, LOC126807362, LOC126807363, LOC126807364, LOC126807365, LOC126807366, LOC126807367, LOC126807368, LOC126807369, LOC126807370, LOC126807371, LOC126807372, LOC126807373, LOC126807374, LOC126807375, LOC126807376, LOC126807377, LOC126807378, LOC126807379, LOC126807380, LOC128667222, MIR3650, MIR580, MROH2B, MRPS30, MRPS30-DT, NADK2, NADK2-AS1, NIM1K, NIPBL, NIPBL-DT, NNT, NNT-AS1, NUP155, OSMR, OSMR-DT, OXCT1, OXCT1-AS1, PAIP1, PLCXD3, PRKAA1, PTGER4, RANBP3L, RICTOR, RIMOC1, RPL37, SELENOP, SKP2, SLC1A3, SNORD72, SPEF2, TMEM267, TTC33, UGT3A1, UGT3A2, WDR70, ZNF131
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
6.
GRCh37:
Chr5:36374209-50399675
GRCh38:
Chr5:36374107-51103841
LOC121056762, LOC121056763, LOC121056764, LOC121725201, LOC121725202, LOC121725203, LOC121725204, LOC123493290, LOC123493291, LOC123493292, LOC123493293, LOC123493294, LOC123493295, LOC123493296, LOC123493297, LOC123493298, LOC123493299, LOC123493300, LOC123493301, LOC123493302, LOC123493303, LOC126807358, LOC126807359, LOC126807360, LOC126807361, LOC126807362, LOC126807363, LOC126807364, LOC126807365, LOC126807366, LOC126807367, LOC126807368, LOC126807369, LOC126807370, LOC126807371, LOC126807372, LOC126807373, LOC126807374, LOC126807375, LOC126807376, LOC126807377, LOC126807378, LOC126807379, LOC126807380, LOC126807381, LOC126807382, LOC126807383, LOC128667222, MIR3650, MROH2B, MRPS30, MRPS30-DT, NIM1K, NIPBL, NIPBL-DT, NNT, NNT-AS1, NUP155, OSMR, OSMR-DT, OXCT1, OXCT1-AS1, PAIP1, PARP8, PLCXD3, PRKAA1, PTGER4, RICTOR, RIMOC1, RPL37, SELENOP, SLC1A3, SNORD72, TMEM267, TTC33, WDR70, ZNF131, ANXA2R, ANXA2R-AS1, ANXA2R-OT1, C5orf34, C5orf34-AS1, C6, C7, C9, CARD6, CCDC152, CCL28, CPLANE1, CPLANE1-AS1, CREST3, DAB2, EGFLAM, EGFLAM-AS1, EGFLAM-AS2, EGFLAM-AS4, EMB, FBXO4, FGF10, FGF10-AS1, FGF10-INT1, FLJ32255, FYB1, GDNF, GDNF-AS1, GHR, HCN1, HMGCS1, LIFR, LIFR-AS1, LINC00603, LINC00604, LINC01265, LINC02104, LINC02106, LINC02107, LINC02110, LINC02119, LINC02224, LINC02996, LOC100132356, LOC100506548, LOC100506639, LOC107963949, LOC107963950, LOC108348025, LOC110120690, LOC110121020, LOC111501791, LOC111556114, LOC112997589, LOC112997590, LOC112997591, LOC112997592, LOC114004393, LOC116158513, LOC116158514
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
7.
GRCh37:
Chr5:36570707-37061019
GRCh38:
Chr5:36570605-37060917
LOC114004393, LOC126807361, NIPBL, NIPBL-DT, SLC1A3See casesUncertain significance
(Aug 19, 2010)
no assertion criteria provided
8.
GRCh37:
Chr5:36834932-36906436
GRCh38:
Chr5:36834830-36906334
NIPBL, NIPBL-DTSee casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
9.
GRCh37:
Chr5:36876893
GRCh38:
Chr5:36876791
NIPBLCornelia de Lange syndrome 1Pathogenic/Likely pathogenic
(Feb 11, 2022)
no assertion criteria provided
10.
GRCh37:
Chr5:36876903-36876904
GRCh38:
Chr5:36876801-36876802
NIPBLNeurodevelopmental abnormalityLikely pathogenic
(Oct 22, 2021)
no assertion criteria provided
11.
GRCh37:
Chr5:36876926
GRCh38:
Chr5:36876824
NIPBLDe Lange syndromeLikely benign
(Jun 14, 2016)
criteria provided, single submitter
12.
GRCh37:
Chr5:36876932
GRCh38:
Chr5:36876830
NIPBLCornelia de Lange syndrome 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
13.
GRCh37:
Chr5:36876936-36876937
GRCh38:
Chr5:36876834-36876835
NIPBLDe Lange syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
14.
GRCh37:
Chr5:36876936
GRCh38:
Chr5:36876834
NIPBLCornelia de Lange syndrome 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
15.
GRCh37:
Chr5:36876950
GRCh38:
Chr5:36876848
NIPBLCornelia de Lange syndrome 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
16.
GRCh37:
Chr5:36876981
GRCh38:
Chr5:36876879
NIPBLCornelia de Lange syndrome 1Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
17.
GRCh37:
Chr5:36877022
GRCh38:
Chr5:36876920
NIPBLCornelia de Lange syndrome 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
18.
GRCh37:
Chr5:36877039-36877040
GRCh38:
Chr5:36876937-36876938
NIPBLCornelia de Lange syndrome 1Pathogenic
(Aug 1, 2006)
no assertion criteria provided
19.
GRCh37:
Chr5:36877048
GRCh38:
Chr5:36876946
NIPBLCornelia de Lange syndrome 1, not providedBenign/Likely benign
(Aug 1, 2022)
criteria provided, multiple submitters, no conflicts
20.
GRCh37:
Chr5:36877053
GRCh38:
Chr5:36876951
NIPBLCornelia de Lange syndrome 1Benign
(Jan 13, 2018)
criteria provided, single submitter
21.
GRCh37:
Chr5:36877095
GRCh38:
Chr5:36876993
NIPBLCornelia de Lange syndrome 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
22.
GRCh37:
Chr5:36877117
GRCh38:
Chr5:36877015
NIPBLCornelia de Lange syndrome 1Benign
(Jan 13, 2018)
criteria provided, single submitter
23.
GRCh37:
Chr5:36877200-36877201
GRCh38:
Chr5:36877098-36877099
NIPBLDe Lange syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
24.
GRCh37:
Chr5:36877266-37065014
GRCh38:
Chr5:36877164-37064912
NIPBLCornelia de Lange syndrome 1Pathogenic
(Feb 26, 2018)
criteria provided, single submitter
25.
GRCh37:
Chr5:36877283
GRCh38:
Chr5:36877181
NIPBLnot specifiedLikely benign
(Nov 7, 2017)
criteria provided, single submitter
26.
GRCh37:
Chr5:36877291
GRCh38:
Chr5:36877189
NIPBLCornelia de Lange syndrome 1Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
27.
GRCh37:
Chr5:36886635-37331912
GRCh38:
Chr5:36886533-37331810
CPLANE1, CPLANE1-AS1, NIPBL, NUP155See casesUncertain significance
(Aug 12, 2011)
criteria provided, single submitter
28.
GRCh37:
Chr5:36906377-37606367
GRCh38:
Chr5:36906275-37606265
CPLANE1, CPLANE1-AS1, LOC121725201, LOC126807362, LOC126807363, NIPBL, NUP155, WDR70See casesUncertain significance
(Aug 12, 2011)
criteria provided, single submitter
29.
GRCh37:
Chr5:36942161
GRCh38:
Chr5:36942059
NIPBLCornelia de Lange syndrome 1Uncertain significance
(Feb 26, 2021)
criteria provided, single submitter
30.
GRCh37:
Chr5:36952121-36952126
GRCh38:
Chr5:36952019-36952024
NIPBLnot providedBenign
(Oct 1, 2022)
criteria provided, single submitter
31.
GRCh37:
Chr5:36952147-36952176
GRCh38:
Chr5:36952045-36952074
NIPBLnot providedBenign
(Mar 1, 2022)
criteria provided, single submitter
32.
GRCh37:
Chr5:36952156-36952163
GRCh38:
Chr5:36952054-36952061
NIPBLnot providedBenign
(May 1, 2022)
criteria provided, single submitter
33.
GRCh37:
Chr5:36953800
GRCh38:
Chr5:36953698
NIPBLM1KCornelia de Lange syndrome 1Likely pathogenic
(Sep 1, 2022)
criteria provided, single submitter
34.
GRCh37:
Chr5:36953801
GRCh38:
Chr5:36953699
NIPBLM1ICornelia de Lange syndrome 1Pathogenic
(Feb 8, 2013)
criteria provided, single submitter
35.
GRCh37:
Chr5:36953803
GRCh38:
Chr5:36953701
NIPBLN2SCornelia de Lange syndrome 1Uncertain significance
(Aug 13, 2022)
criteria provided, single submitter
36.
GRCh37:
Chr5:36953804-36953805
GRCh38:
Chr5:36953702-36953703
NIPBLD4fsCornelia de Lange syndrome 1Pathogenic
(Oct 2, 2021)
criteria provided, single submitter
37.
GRCh37:
Chr5:36953837-36953838
GRCh38:
Chr5:36953735-36953736
NIPBLA14fsnot providedPathogenic
(May 1, 2015)
criteria provided, single submitter
38.
GRCh37:
Chr5:36953840
GRCh38:
Chr5:36953738
NIPBLnot specified, Cornelia de Lange syndrome 1Conflicting interpretations of pathogenicity
(Jan 13, 2022)
criteria provided, conflicting interpretations
39.
GRCh37:
Chr5:36953863-36953995
GRCh38:
Chr5:36953761-36953893
NIPBLCornelia de Lange syndrome 1Pathogenic
(Feb 14, 2019)
criteria provided, single submitter
40.
GRCh37:
Chr5:36953863
GRCh38:
Chr5:36953761
NIPBLCornelia de Lange syndrome 1Pathogenic
(Dec 10, 2021)
criteria provided, multiple submitters, no conflicts
41.
GRCh37:
Chr5:36953865
GRCh38:
Chr5:36953763
NIPBLCornelia de Lange syndrome 1Uncertain significance
(Aug 14, 2020)
criteria provided, single submitter
42.
GRCh37:
Chr5:36953865
GRCh38:
Chr5:36953763
NIPBLCornelia de Lange syndrome 1Pathogenic
(Feb 8, 2013)
criteria provided, single submitter
43.
GRCh37:
Chr5:36953867
GRCh38:
Chr5:36953765
NIPBLCornelia de Lange syndrome 1Conflicting interpretations of pathogenicity
(Aug 28, 2021)
criteria provided, conflicting interpretations
44.
GRCh37:
Chr5:36953868
GRCh38:
Chr5:36953766
NIPBLCornelia de Lange syndrome 1Uncertain significance
(Aug 27, 2021)
criteria provided, single submitter
45.
GRCh37:
Chr5:36954077
GRCh38:
Chr5:36953975
NIPBLnot providedLikely benign
(Sep 22, 2018)
criteria provided, single submitter
46.
GRCh37:
Chr5:36955554
GRCh38:
Chr5:36955452
NIPBLCornelia de Lange syndrome 1Benign
(Jun 25, 2022)
criteria provided, single submitter
47.
GRCh37:
Chr5:36955557
GRCh38:
Chr5:36955455
NIPBLnot specified, Cornelia de Lange syndrome 1Benign
(Sep 13, 2022)
criteria provided, multiple submitters, no conflicts
48.
GRCh37:
Chr5:36955569
GRCh38:
Chr5:36955467
NIPBLInborn genetic diseasesLikely benign
(Oct 5, 2016)
criteria provided, single submitter
49.
GRCh37:
Chr5:36955569
GRCh38:
Chr5:36955467
NIPBLCornelia de Lange syndrome 1Pathogenic/Likely pathogenic
(Jul 15, 2021)
criteria provided, multiple submitters, no conflicts
50.
GRCh37:
Chr5:36955571
GRCh38:
Chr5:36955469
NIPBLCornelia de Lange syndrome 1Pathogenic
(Dec 2, 2014)
no assertion criteria provided
51.
GRCh37:
Chr5:36955594
GRCh38:
Chr5:36955492
NIPBLP29fsCornelia de Lange syndrome 1Pathogenic
(Jul 15, 2021)
criteria provided, multiple submitters, no conflicts
52.
GRCh37:
Chr5:36955596
GRCh38:
Chr5:36955494
NIPBLnot specifiedLikely benign
(Feb 8, 2013)
criteria provided, single submitter
53.
GRCh37:
Chr5:36955608
GRCh38:
Chr5:36955506
NIPBLCornelia de Lange syndrome 1Likely benign
(May 28, 2022)
criteria provided, single submitter
54.
GRCh37:
Chr5:36955620
GRCh38:
Chr5:36955518
NIPBLnot providedLikely benign
(Nov 28, 2018)
criteria provided, single submitter
55.
GRCh37:
Chr5:36955632
GRCh38:
Chr5:36955530
NIPBLCornelia de Lange syndrome 1Likely benign
(Dec 3, 2021)
criteria provided, single submitter
56.
GRCh37:
Chr5:36955635
GRCh38:
Chr5:36955533
NIPBLnot specified, not provided, Cornelia de Lange syndrome 1
Conflicting interpretations of pathogenicity
(Aug 31, 2022)
criteria provided, conflicting interpretations
57.
GRCh37:
Chr5:36955641
GRCh38:
Chr5:36955539
NIPBLCornelia de Lange syndrome 1Likely benign
(Aug 22, 2022)
criteria provided, single submitter
58.
GRCh37:
Chr5:36955642
GRCh38:
Chr5:36955540
NIPBLR45*not provided, Cornelia de Lange syndrome 1Pathogenic
(Sep 7, 2022)
criteria provided, multiple submitters, no conflicts
59.
GRCh37:
Chr5:36955643
GRCh38:
Chr5:36955541
NIPBLR45QCornelia de Lange syndrome 1Uncertain significance
(Aug 2, 2022)
criteria provided, single submitter
60.
GRCh37:
Chr5:36955654
GRCh38:
Chr5:36955552
NIPBLE49*Cornelia de Lange syndrome 1Pathogenic
(Feb 8, 2013)
criteria provided, single submitter
61.
GRCh37:
Chr5:36955659
GRCh38:
Chr5:36955557
NIPBLN51fsCornelia de Lange syndrome 1Pathogenic
(Jun 1, 2004)
no assertion criteria provided
62.
GRCh37:
Chr5:36955670
GRCh38:
Chr5:36955568
NIPBLL54*Cornelia de Lange syndrome 1Pathogenic
(Jan 1, 2016)
criteria provided, single submitter
63.
GRCh37:
Chr5:36955678
GRCh38:
Chr5:36955576
NIPBLR57GCornelia de Lange syndrome 1Uncertain significance
(Sep 3, 2022)
criteria provided, single submitter
64.
GRCh37:
Chr5:36955678
GRCh38:
Chr5:36955576
NIPBLR57fsCornelia de Lange syndrome 1Pathogenic
(Oct 13, 2016)
criteria provided, single submitter
65.
GRCh37:
Chr5:36955688
GRCh38:
Chr5:36955586
NIPBLN60SInborn genetic diseases, Cornelia de Lange syndrome 1Benign/Likely benign
(Sep 20, 2022)
criteria provided, multiple submitters, no conflicts
66.
GRCh37:
Chr5:36955693
GRCh38:
Chr5:36955591
NIPBLV62LInborn genetic diseasesUncertain significance
(Apr 25, 2022)
criteria provided, single submitter
67.
GRCh37:
Chr5:36955697
GRCh38:
Chr5:36955595
NIPBLS63*Cornelia de Lange syndrome 1Pathogenic
(May 1, 2020)
criteria provided, single submitter
68.
GRCh37:
Chr5:36955701
GRCh38:
Chr5:36955599
NIPBLQ64fsCornelia de Lange syndrome 1Pathogenic
(Feb 8, 2013)
criteria provided, single submitter
69.
GRCh37:
Chr5:36955703
GRCh38:
Chr5:36955601
NIPBLL65RCornelia de Lange syndrome 1Uncertain significance
(Mar 17, 2021)
criteria provided, single submitter
70.
GRCh37:
Chr5:36955707-36955718
GRCh38:
Chr5:36955605-36955616
NIPBLCornelia de Lange syndrome 1Likely pathogenic
(Feb 8, 2013)
criteria provided, single submitter
71.
GRCh37:
Chr5:36955707
GRCh38:
Chr5:36955605
NIPBLInborn genetic diseases, not specified, not provided,
Cornelia de Lange syndrome 1
Benign/Likely benign
(Sep 24, 2022)
criteria provided, multiple submitters, no conflicts
72.
GRCh37:
Chr5:36955709
GRCh38:
Chr5:36955607
NIPBLH67Rnot providedUncertain significance
(Mar 1, 2022)
criteria provided, single submitter
73.
GRCh37:
Chr5:36955715
GRCh38:
Chr5:36955613
NIPBLL69PCornelia de Lange syndrome 1Likely pathogenic
(Jan 9, 2014)
criteria provided, single submitter
74.
GRCh37:
Chr5:36955718
GRCh38:
Chr5:36955616
NIPBLN70SCornelia de Lange syndrome 1, not providedUncertain significance
(Sep 30, 2021)
criteria provided, multiple submitters, no conflicts
75.
GRCh37:
Chr5:36955719
GRCh38:
Chr5:36955617
NIPBLN70KCornelia de Lange syndrome 1Uncertain significance
(Jul 18, 2022)
criteria provided, single submitter
76.
GRCh37:
Chr5:36955720-36955721
GRCh38:
Chr5:36955618-36955619
NIPBLV72fsCornelia de Lange syndrome 1Pathogenic
(Feb 8, 2013)
criteria provided, single submitter
77.
GRCh37:
Chr5:36955724
GRCh38:
Chr5:36955622
NIPBLV72Anot providedUncertain significance
(Jun 9, 2022)
criteria provided, single submitter
78.
GRCh37:
Chr5:36955734
GRCh38:
Chr5:36955632
NIPBLInborn genetic diseasesLikely benign
(Mar 10, 2018)
criteria provided, single submitter
79.
GRCh37:
Chr5:36955735
GRCh38:
Chr5:36955633
NIPBLH76fsCornelia de Lange syndrome 1Pathogenic
(May 28, 2019)
criteria provided, single submitter
80.
GRCh37:
Chr5:36955744
GRCh38:
Chr5:36955642
NIPBLCornelia de Lange syndrome 1Pathogenic
(Mar 20, 2019)
criteria provided, single submitter
81.
GRCh37:
Chr5:36955749
GRCh38:
Chr5:36955647
NIPBLCornelia de Lange syndrome 1Likely benign
(Jun 20, 2022)
criteria provided, single submitter
82.
GRCh37:
Chr5:36955757
GRCh38:
Chr5:36955655
NIPBLCornelia de Lange syndrome 1Likely benign
(Jun 15, 2022)
criteria provided, single submitter
83.
GRCh37:
Chr5:36955758
GRCh38:
Chr5:36955656
NIPBLCornelia de Lange syndrome 1Likely benign
(Jul 5, 2022)
criteria provided, single submitter
84.
GRCh37:
Chr5:36957867-36957868
GRCh38:
Chr5:36957765-36957766
NIPBLnot providedLikely benign
(Aug 17, 2018)
criteria provided, single submitter
85.
GRCh37:
Chr5:36958057
GRCh38:
Chr5:36957955
NIPBLnot providedBenign
(Oct 21, 2018)
criteria provided, single submitter
86.
GRCh37:
Chr5:36958086-36958087
GRCh38:
Chr5:36957984-36957985
NIPBLnot providedBenign
(Aug 28, 2019)
criteria provided, single submitter
87.
GRCh37:
Chr5:36958086
GRCh38:
Chr5:36957984
NIPBLnot providedBenign
(Jun 3, 2021)
criteria provided, single submitter
88.
GRCh37:
Chr5:36958086-36958088
GRCh38:
Chr5:36957984-36957986
NIPBLnot providedLikely benign
(Dec 22, 2020)
criteria provided, single submitter
89.
GRCh37:
Chr5:36958216
GRCh38:
Chr5:36958114
NIPBLD81fsCornelia de Lange syndrome 1Pathogenic
(Mar 18, 2019)
criteria provided, single submitter
90.
GRCh37:
Chr5:36958225
GRCh38:
Chr5:36958123
NIPBLG84SCornelia de Lange syndrome 1Uncertain significance
(Oct 20, 2022)
criteria provided, single submitter
91.
GRCh37:
Chr5:36958231
GRCh38:
Chr5:36958129
NIPBLD86NInborn genetic diseasesLikely benign
(Dec 16, 2021)
criteria provided, single submitter
92.
GRCh37:
Chr5:36958246-36958254
GRCh38:
Chr5:36958144-36958152
NIPBLCornelia de Lange syndrome 1Likely pathogenic
(Nov 12, 2021)
criteria provided, single submitter
93.
GRCh37:
Chr5:36958261-36958262
GRCh38:
Chr5:36958159-36958160
NIPBLL96fsCornelia de Lange syndrome 1Pathogenic
(Feb 8, 2013)
criteria provided, single submitter
94.
GRCh37:
Chr5:36958269
GRCh38:
Chr5:36958167
NIPBLInborn genetic diseases, not specified, not provided,
Cornelia de Lange syndrome 1
Benign/Likely benign
(Oct 20, 2022)
criteria provided, multiple submitters, no conflicts
95.
GRCh37:
Chr5:36958270
GRCh38:
Chr5:36958168
NIPBLV99ICornelia de Lange syndrome 1Uncertain significance
(Sep 22, 2022)
criteria provided, single submitter
96.
GRCh37:
Chr5:36958275
GRCh38:
Chr5:36958173
NIPBLCornelia de Lange syndrome 1Likely benign
(Dec 28, 2020)
criteria provided, single submitter
97.
GRCh37:
Chr5:36958277-36958286
GRCh38:
Chr5:36958175-36958184
NIPBLA101fsCornelia de Lange syndrome 1Pathogenicno assertion criteria provided
98.
GRCh37:
Chr5:36958281
GRCh38:
Chr5:36958179
NIPBLR102SInborn genetic diseases, Cornelia de Lange syndrome 1Uncertain significance
(Jul 1, 2022)
criteria provided, multiple submitters, no conflicts
99.
GRCh37:
Chr5:36958282-36958283
GRCh38:
Chr5:36958180-36958181
NIPBLN105fsCornelia de Lange syndrome 1Pathogenic
(Sep 17, 2019)
criteria provided, single submitter
100.
GRCh37:
Chr5:36958283-36958290
GRCh38:
Chr5:36958181-36958188
NIPBLP104fsCornelia de Lange syndrome 1Pathogenic
(Feb 8, 2013)
criteria provided, single submitter
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