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Items: 1 to 100 of 2473

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh38:
Chr5:9999-14320000
ADAMTS16, ADAMTS16-DT, ADCY2, AHRR, ANKRD33B, ATPSCKMT, BRD9, CCDC127, CCT5, CEP72, CEP72-DT, CFAP90, CLPTM1L, CMBL, CTD-2194D22.4, CTNND2, DAP, DAP-DT, DNAH5, EXOC3, EXOC3-AS1, FASTKD3, ICE1, IRX1, IRX2, IRX2-DT, IRX4, IRX4-AS1, LINC01017, LINC01018, LINC01019, LINC01020, LINC01194, LINC01377, LINC01511, LINC02063, LINC02102, LINC02112, LINC02114, LINC02116, LINC02121, LINC02123, LINC02142, LINC02145, LINC02162, LINC02199, LINC02212, LINC02213, LINC02220, LINC02221, LINC02226, LINC02236, LINC02982, 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, LOC123493256, LOC123493257, LOC123493258, LOC123493259, LOC123493260, LOC123493261, LOC123493262, LOC123493263, LOC123493264, LOC123493265, LOC123493266, LOC123493267, LOC123493268, LOC123493269, LOC124901163, 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, LOC128772262, LOC128772263, LOC128772264, LPCAT1, LRRC14B, LSINCT5, MARCHF6, MARCHF6-DT, MED10, MIR10397, MIR4277, MIR4278, MIR4456, MIR4457, MIR4458, MIR4458HG, MIR4635, MIR4636, MIR6075, MIR6131, MNS16A, MRPL36, MTRR, NDUFS6, NKD2, NSUN2, PDCD6, PDCD6-AHRR, PDCD6-DT, PLEKHG4B, ROPN1L, ROPN1L-AS1, SDHA, SEMA5A, SEMA5A-AS1, SLC12A7, SLC6A18, SLC6A19, SLC6A3, SLC9A3, SLC9A3-AS1, SLC9A3-OT1, SNHG18, SNORD123, SRD5A1, TAS2R1, TENT4A, TERLR1, TERT, TPPP, TRIO, TRIP13, UBE2QL1, ZDHHC11, ZDHHC11B
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndromePathogenic
(Aug 24, 2023)
criteria provided, single submitter
2.
GRCh37:
Chr5:22149-5102699
GRCh38:
Chr5:22149-5102586
See casesPathogenic
(Nov 27, 2012)
no assertion criteria provided
3.
GRCh37:
Chr5:22149-21726469
GRCh38:
Chr5:22149-21726360
ADAMTS16, ADAMTS16-DT, ADCY2, AHRR, ANKH, ANKRD33B, ATPSCKMT, BASP1, BASP1-AS1, BRD9, CCDC127, CCT5, CDH18, CDH18-AS1, CEP72, CEP72-DT, CFAP90, CLPTM1L, CMBL, CTD-2194D22.4, CTD-2350J17.1, CTNND2, DAP, DAP-DT, DNAH5, EXOC3, EXOC3-AS1, FASTKD3, FBXL7, H3Y1, H3Y2, ICE1, IRX1, IRX2, IRX2-DT, 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, LINC02982, LOC100130744, 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, LOC123493256, LOC123493257, LOC123493258, LOC123493259, LOC123493260, LOC123493261, LOC123493262, LOC123493263, LOC123493264, LOC123493265, LOC123493266, LOC123493267, LOC123493268, LOC123493269, LOC123493270, LOC123493271, LOC123493272, LOC123493273, LOC123493274, LOC123493275, LOC123493276, LOC123493277, LOC124901163, 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, LOC128772262, LOC128772263, LOC128772264, LPCAT1, LRRC14B, LSINCT5, MARCHF11, MARCHF11-DT, MARCHF6, MARCHF6-DT, 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, RETREG1, RETREG1-AS1, ROPN1L, ROPN1L-AS1, SDHA, SEMA5A, SEMA5A-AS1, SLC12A7, SLC6A18, SLC6A19, SLC6A3, SLC9A3, SLC9A3-AS1, SLC9A3-OT1, SNHG18, SNORD123, SNORD141B, SNORD170, SRD5A1, TAF11L10, TAF11L11, TAF11L12, TAF11L13, TAF11L14, TAF11L2, TAF11L3, TAF11L4, TAF11L5, TAF11L6, TAF11L7, TAF11L8, TAF11L9, TAS2R1, TENT4A, TERLR1, TERT, TPPP, TRIO, TRIP13, UBE2QL1, ZDHHC11, ZDHHC11B, ZNF622
See casesPathogenic
(Aug 13, 2012)
no assertion criteria provided
4.
GRCh37:
Chr5:22149-5060009
GRCh38:
Chr5:22149-5059896
See casesPathogenic
(Sep 10, 2012)
no assertion criteria provided
5.
GRCh37:
Chr5:22149-27611270
GRCh38:
Chr5:22149-27611163
ADAMTS16, ADAMTS16-DT, ADCY2, AHRR, ANKH, ANKRD33B, ATPSCKMT, BASP1, BASP1-AS1, BRD9, CCDC127, CCT5, CDH10, CDH12, CDH18, CDH18-AS1, CDH9, CEP72, CEP72-DT, CFAP90, CLPTM1L, CMBL, CTD-2194D22.4, CTD-2350J17.1, CTNND2, DAP, DAP-DT, DNAH5, EXOC3, EXOC3-AS1, FASTKD3, FBXL7, H3Y1, H3Y2, ICE1, IRX1, IRX2, IRX2-DT, 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, LINC02982, LOC100130744, 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, 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, LOC124901163, 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, LOC128772262, LOC128772263, LOC128772264, LPCAT1, LRRC14B, LSINCT5, MARCHF11, MARCHF11-DT, MARCHF6, MARCHF6-DT, 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, PRDM9, PURPL, RETREG1, RETREG1-AS1, ROPN1L, ROPN1L-AS1, SDHA, SEMA5A, SEMA5A-AS1, SLC12A7, SLC6A18, SLC6A19, SLC6A3, SLC9A3, SLC9A3-AS1, SLC9A3-OT1, SNHG18, SNORA105A, SNORD123, SNORD141B, SNORD170, SRD5A1, TAF11L10, TAF11L11, TAF11L12, TAF11L13, TAF11L14, TAF11L2, TAF11L3, TAF11L4, TAF11L5, TAF11L6, TAF11L7, TAF11L8, TAF11L9, TAS2R1, TENT4A, TERLR1, UBE2QL1, TERT, TPPP, TRIO, TRIP13, TRK-CTT9-1, ZDHHC11, ZDHHC11B, ZNF622
See casesPathogenic
(Aug 13, 2012)
no assertion criteria provided
6.
GRCh37:
Chr5:22149-1659250
GRCh38:
Chr5:22149-1659135
See casesPathogenic
(Dec 22, 2010)
no assertion criteria provided
7.
GRCh37:
Chr5:22149-26594000
GRCh38:
Chr5:22149-26593891
ADAMTS16, ADAMTS16-DT, ADCY2, AHRR, ANKH, ANKRD33B, ATPSCKMT, BASP1, BASP1-AS1, BRD9, CCDC127, CCT5, CDH10, CDH12, CDH18, CDH18-AS1, CEP72, CEP72-DT, CFAP90, CLPTM1L, CMBL, CTD-2194D22.4, CTD-2350J17.1, CTNND2, DAP, DAP-DT, DNAH5, EXOC3, EXOC3-AS1, FASTKD3, FBXL7, H3Y1, H3Y2, ICE1, IRX1, IRX2, IRX2-DT, 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, LINC02982, LOC100130744, 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, 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, LOC124901163, 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, LOC128772262, LOC128772263, LOC128772264, LPCAT1, LRRC14B, LSINCT5, MARCHF11, MARCHF11-DT, MARCHF6, MARCHF6-DT, 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, PRDM9, RETREG1, RETREG1-AS1, ROPN1L, ROPN1L-AS1, SDHA, SEMA5A, SEMA5A-AS1, SLC12A7, SLC6A18, SLC6A19, SLC6A3, SLC9A3, SLC9A3-AS1, SLC9A3-OT1, SNHG18, SNORA105A, SNORD123, SNORD141B, SNORD170, SRD5A1, TAF11L10, TAF11L11, TAF11L12, TAF11L13, TAF11L14, TAF11L2, TAF11L3, TAF11L4, TAF11L5, TAF11L6, TAF11L7, TAF11L8, TAF11L9, TAS2R1, TENT4A, TERLR1, TERT, TPPP, TRIO, TRIP13, TRK-CTT9-1, UBE2QL1, ZDHHC11, ZDHHC11B, ZNF622
See casesPathogenic
(Dec 22, 2010)
no assertion criteria provided
8.
GRCh37:
Chr5:22149-4833739
GRCh38:
Chr5:22149-4833626
See casesPathogenic
(Jan 9, 2013)
no assertion criteria provided
9.
GRCh37:
Chr5:22149-28589299
GRCh38:
Chr5:22149-28589192
EXOC3, EXOC3-AS1, FASTKD3, FBXL7, H3Y1, H3Y2, ICE1, IRX1, IRX2, IRX2-DT, 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, LINC02982, LOC100130744, 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, 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, LOC124901163, 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, LOC128772262, LOC128772263, LOC128772264, LPCAT1, LRRC14B, LSINCT5, MARCHF11, MARCHF11-DT, MARCHF6, MARCHF6-DT, 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, PRDM9, PURPL, RETREG1, RETREG1-AS1, ROPN1L, ROPN1L-AS1, SDHA, SEMA5A, SEMA5A-AS1, SLC12A7, SLC6A18, SLC6A19, SLC6A3, SLC9A3, SLC9A3-AS1, SLC9A3-OT1, SNHG18, SNORA105A, SNORD123, SNORD141B, SNORD170, SRD5A1, TAF11L10, TAF11L11, TAF11L12, TAF11L13, TAF11L14, TAF11L2, TAF11L3, TAF11L4, TAF11L5, TAF11L6, TAF11L7, TAF11L8, TAF11L9, TAS2R1, TENT4A, TERLR1, UBE2QL1, TERT, TPPP, TRIO, TRIP13, TRK-CTT9-1, ZDHHC11, ZDHHC11B, ZNF622, ADAMTS16, ADAMTS16-DT, ADCY2, AHRR, ANKH, ANKRD33B, ATPSCKMT, BASP1, BASP1-AS1, BRD9, CCDC127, CCT5, CDH10, CDH12, CDH18, CDH18-AS1, CDH9, CEP72, CEP72-DT, CFAP90, CLPTM1L, CMBL, CTD-2194D22.4, CTD-2350J17.1, CTNND2, DAP, DAP-DT, DNAH5
See casesPathogenic
(Sep 26, 2012)
no assertion criteria provided
10.
GRCh37:
Chr5:22149-16930125
GRCh38:
Chr5:22149-16930016
ADAMTS16, ADAMTS16-DT, ADCY2, AHRR, ANKH, ANKRD33B, ATPSCKMT, BRD9, CCDC127, CCT5, CEP72, CEP72-DT, CFAP90, CLPTM1L, CMBL, CTD-2194D22.4, CTD-2350J17.1, CTNND2, DAP, DAP-DT, DNAH5, EXOC3, EXOC3-AS1, FASTKD3, FBXL7, ICE1, IRX1, IRX2, IRX2-DT, 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, LINC02982, LOC100130744, 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, LOC123493256, LOC123493257, LOC123493258, LOC123493259, LOC123493260, LOC123493261, LOC123493262, LOC123493263, LOC123493264, LOC123493265, LOC123493266, LOC123493267, LOC123493268, LOC123493269, LOC123493270, LOC123493271, LOC123493272, LOC123493273, LOC124901163, 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, LOC128772262, LOC128772263, LOC128772264, LPCAT1, LRRC14B, LSINCT5, MARCHF11, MARCHF11-DT, MARCHF6, MARCHF6-DT, 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, RETREG1, RETREG1-AS1, ROPN1L, ROPN1L-AS1, SDHA, SEMA5A, SEMA5A-AS1, SLC12A7, SLC6A18, SLC6A19, SLC6A3, SLC9A3, SLC9A3-AS1, SLC9A3-OT1, SNHG18, SNORD123, SNORD141B, SNORD170, SRD5A1, TAS2R1, TENT4A, TERLR1, ZDHHC11, TERT, TPPP, TRIO, TRIP13, UBE2QL1, ZDHHC11B, ZNF622
See casesPathogenic
(Dec 3, 2012)
no assertion criteria provided
11.
GRCh37:
Chr5:22149-356222
GRCh38:
Chr5:22149-356107
See casesLikely benign
(Apr 30, 2011)
no assertion criteria provided
12.
GRCh37:
Chr5:22149-658561
GRCh38:
Chr5:22149-658446
See casesLikely benign
(Apr 30, 2011)
no assertion criteria provided
13.
GRCh37:
Chr5:22149-3619273
GRCh38:
Chr5:22149-3619159
See casesUncertain significance
(Oct 23, 2012)
no assertion criteria provided
14.
GRCh37:
Chr5:22149-2324057
GRCh38:
Chr5:22149-2323943
See casesPathogenic
(Sep 21, 2012)
no assertion criteria provided
15.
GRCh37:
Chr5:22149-35831640
GRCh38:
Chr5:22149-35831538
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, LOC128772262, LOC128772263, LOC128772264, LPCAT1, LRRC14B, LSINCT5, MARCHF11, MARCHF11-DT, MARCHF6, MARCHF6-DT, 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, 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, SLC9A3-OT1, SNHG18, SNORA105A, SNORD123, SNORD141B, SNORD170, SPEF2, SRD5A1, SUB1, TAF11L10, TAF11L11, TAF11L12, TAF11L13, TAF11L14, TAF11L2, TAF11L3, TAF11L4, TAF11L5, TAF11L6, TAF11L7, TAF11L8, TAF11L9, TARS1, TAS2R1, TENT4A, TERLR1, TERT, TPPP, TRIO, TRIP13, TRK-CTT9-1, 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, CCDC127, CCT5, CDH10, CDH12, CDH18, CDH18-AS1, CDH6, CDH9, CEP72, CEP72-DT, CFAP90, CLPTM1L, CMBL, CTD-2194D22.4, CTD-2350J17.1, CTNND2, DAP, DAP-DT, DNAH5, DNAJC21, DROSHA, EXOC3, EXOC3-AS1, FASTKD3, FBXL7, GOLPH3, H3Y1, H3Y2, ICE1, IRX1, IRX2, IRX2-DT, 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, LINC02982, LOC100130744, 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, 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, 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
See casesPathogenic
(Jul 2, 2012)
no assertion criteria provided
16.
GRCh37:
Chr5:22149-73708550
GRCh38:
Chr5:22149-74412725
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, 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, PPWD1, PRDM9, PRKAA1, PRLR, PTCD2, PTGER4, PURPL, RAB3C, RAD1, RAD17, RAI14, RAI14-DT, RANBP3L, RETREG1, RETREG1-AS1, RGS7BP, RICTOR, RIMOC1, RMEL3, 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, 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, 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
See casesPathogenic
(Sep 21, 2012)
no assertion criteria provided
17.
GRCh37:
Chr5:22149-21217229
GRCh38:
Chr5:22149-21217120
LOC112997550, LOC112997551, LOC112997585, LOC112997586, LOC112997587, LOC112997593, LOC113002586, LOC113002587, LOC114827841, LOC116158511, LOC116158512, LOC121056758, LOC121056759, LOC121056760, LOC121056761, LOC121725197, LOC121725198, LOC123493256, LOC123493257, LOC123493258, LOC123493259, LOC123493260, LOC123493261, LOC123493262, LOC123493263, LOC123493264, LOC123493265, LOC123493266, LOC123493267, LOC123493268, LOC123493269, LOC123493270, LOC123493271, LOC123493272, LOC123493273, LOC123493274, LOC123493275, LOC123493276, LOC124901163, 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, LOC128772262, LOC128772263, LOC128772264, LPCAT1, LRRC14B, LSINCT5, MARCHF11, MARCHF11-DT, MARCHF6, MARCHF6-DT, 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, RETREG1, RETREG1-AS1, ROPN1L, ROPN1L-AS1, SDHA, SEMA5A, SEMA5A-AS1, SLC12A7, SLC6A18, SLC6A19, SLC6A3, SLC9A3, SLC9A3-AS1, SLC9A3-OT1, SNHG18, SNORD123, SNORD141B, SNORD170, SRD5A1, TAF11L10, TAF11L11, TAF11L12, TAF11L13, TAF11L14, TAF11L2, TAF11L3, TAF11L4, TAF11L5, TAF11L6, TAF11L7, TAF11L8, TAF11L9, TAS2R1, TENT4A, TERLR1, TERT, TPPP, TRIO, TRIP13, UBE2QL1, ZDHHC11, ZDHHC11B, ZNF622, ADAMTS16, ADAMTS16-DT, ADCY2, AHRR, ANKH, ANKRD33B, ATPSCKMT, BASP1, BASP1-AS1, BRD9, CCDC127, CCT5, CDH18, CDH18-AS1, CEP72, CEP72-DT, CFAP90, CLPTM1L, CMBL, CTD-2194D22.4, CTD-2350J17.1, CTNND2, DAP, DAP-DT, DNAH5, EXOC3, EXOC3-AS1, FASTKD3, FBXL7, H3Y1, H3Y2, ICE1, IRX1, IRX2, IRX2-DT, 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, LINC02982, LOC100130744, LOC100506858, LOC105374618, LOC105374620, LOC107457585, LOC107758904, LOC108251796, LOC108254683, LOC110120635, LOC110120695, LOC110120713, LOC110120722, LOC110120760, LOC110121060, LOC110806263, LOC110806264, LOC111828522, LOC112997548, LOC112997549
See casesPathogenic
(Jun 1, 2012)
no assertion criteria provided
18.
GRCh37:
Chr5:22149-6060215
GRCh38:
Chr5:22149-6060102
See casesPathogenic
(Mar 9, 2012)
no assertion criteria provided
19.
GRCh37:
Chr5:22149-946795
GRCh38:
Chr5:22149-946680
See casesUncertain significance
(Jun 1, 2012)
no assertion criteria provided
20.
GRCh37:
Chr5:22149-22775404
GRCh38:
Chr5:22149-22775295
NSUN2, OTULIN, OTULIN-DT, OTULINL, PDCD6, PDCD6-AHRR, PDCD6-DT, PLEKHG4B, RETREG1, RETREG1-AS1, ROPN1L, ROPN1L-AS1, SDHA, SEMA5A, SEMA5A-AS1, SLC12A7, SLC6A18, SLC6A19, SLC6A3, SLC9A3, SLC9A3-AS1, SLC9A3-OT1, SNHG18, SNORA105A, SNORD123, SNORD141B, SNORD170, SRD5A1, TAF11L10, TAF11L11, TAF11L12, TAF11L13, TAF11L14, TAF11L2, TAF11L3, TAF11L4, TAF11L5, TAF11L6, TAF11L7, TAF11L8, TAF11L9, TAS2R1, TENT4A, TERLR1, TERT, TPPP, TRIO, TRIP13, UBE2QL1, ZDHHC11, ZDHHC11B, ZNF622, ADAMTS16, ADAMTS16-DT, ADCY2, AHRR, ANKH, ANKRD33B, ATPSCKMT, BASP1, BASP1-AS1, BRD9, CCDC127, CCT5, CDH12, CDH18, CDH18-AS1, CEP72, CEP72-DT, CFAP90, CLPTM1L, CMBL, CTD-2194D22.4, CTD-2350J17.1, CTNND2, DAP, DAP-DT, DNAH5, EXOC3, EXOC3-AS1, FASTKD3, FBXL7, H3Y1, H3Y2, ICE1, IRX1, IRX2, IRX2-DT, 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, LINC02982, LOC100130744, 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, LOC123493256, LOC123493257, LOC123493258, LOC123493259, LOC123493260, LOC123493261, LOC123493262, LOC123493263, LOC123493264, LOC123493265, LOC123493266, LOC123493267, LOC123493268, LOC123493269, LOC123493270, LOC123493271, LOC123493272, LOC123493273, LOC123493274, LOC123493275, LOC123493276, LOC123493277, LOC124901163, 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, LOC128772262, LOC128772263, LOC128772264, LPCAT1, LRRC14B, LSINCT5, MARCHF11, MARCHF11-DT, MARCHF6, MARCHF6-DT, MED10, MIR10397, MIR10522, MIR4277, MIR4278, MIR4456, MIR4457, MIR4458, MIR4458HG, MIR4635, MIR4636, MIR4637, MIR6075, MIR6131, MIR887, MNS16A, MRPL36, MTRR, MYO10, NDUFS6, NKD2
See casesPathogenic
(Jan 23, 2012)
no assertion criteria provided
21.
GRCh37:
Chr5:22149-27188057
GRCh38:
Chr5:22149-27187950
SEMA5A-AS1, SLC12A7, SLC6A18, SLC6A19, SLC6A3, SLC9A3, SLC9A3-AS1, SLC9A3-OT1, SNHG18, SNORA105A, SNORD123, SNORD141B, SNORD170, SRD5A1, TAF11L10, TAF11L11, TAF11L12, TAF11L13, TAF11L14, TAF11L2, TAF11L3, TAF11L4, TAF11L5, TAF11L6, TAF11L7, TAF11L8, TAF11L9, TAS2R1, TENT4A, TERLR1, UBE2QL1, TERT, TPPP, TRIO, TRIP13, TRK-CTT9-1, ZDHHC11, ZDHHC11B, ZNF622, ADAMTS16, ADAMTS16-DT, ADCY2, AHRR, ANKH, ANKRD33B, ATPSCKMT, BASP1, BASP1-AS1, BRD9, CCDC127, CCT5, CDH10, CDH12, CDH18, CDH18-AS1, CDH9, CEP72, CEP72-DT, CFAP90, CLPTM1L, CMBL, CTD-2194D22.4, CTD-2350J17.1, CTNND2, DAP, DAP-DT, DNAH5, EXOC3, EXOC3-AS1, FASTKD3, FBXL7, H3Y1, H3Y2, ICE1, IRX1, IRX2, IRX2-DT, 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, LINC02982, LOC100130744, 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, 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, LOC124901163, 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, LOC128772262, LOC128772263, LOC128772264, LPCAT1, LRRC14B, LSINCT5, MARCHF11, MARCHF11-DT, MARCHF6, MARCHF6-DT, 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, PRDM9, RETREG1, RETREG1-AS1, ROPN1L, ROPN1L-AS1, SDHA, SEMA5A
See casesPathogenic
(Jan 16, 2012)
no assertion criteria provided
22.
GRCh37:
Chr5:22149-4260264
GRCh38:
Chr5:22149-4260151
See casesPathogenic
(Nov 11, 2011)
no assertion criteria provided
23.
GRCh37:
Chr5:22149-11530503
GRCh38:
Chr5:22149-11530391
ADAMTS16, ADAMTS16-DT, ADCY2, AHRR, ANKRD33B, ATPSCKMT, BRD9, CCDC127, CCT5, CEP72, CEP72-DT, CFAP90, CLPTM1L, CMBL, CTD-2194D22.4, CTNND2, DAP, DAP-DT, EXOC3, EXOC3-AS1, FASTKD3, ICE1, IRX1, IRX2, IRX2-DT, IRX4, IRX4-AS1, LINC01017, LINC01018, LINC01019, LINC01020, LINC01377, LINC01511, LINC02063, LINC02102, LINC02112, LINC02114, LINC02116, LINC02121, LINC02123, LINC02142, LINC02145, LINC02162, LINC02199, LINC02212, LINC02213, LINC02221, LINC02226, LINC02236, LINC02982, LOC100506858, LOC105374618, LOC105374620, 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, LOC123493256, LOC123493257, LOC123493258, LOC123493259, LOC123493260, LOC123493261, LOC123493262, LOC123493263, LOC123493264, LOC123493265, LOC124901163, 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, LOC128772262, LOC128772263, LOC128772264, LPCAT1, LRRC14B, LSINCT5, MARCHF6, MARCHF6-DT, MED10, MIR10397, MIR4277, MIR4278, MIR4456, MIR4457, MIR4458, MIR4458HG, MIR4635, MIR4636, MIR6075, MIR6131, MNS16A, MRPL36, MTRR, NDUFS6, NKD2, NSUN2, PDCD6, PDCD6-AHRR, PDCD6-DT, PLEKHG4B, ROPN1L, ROPN1L-AS1, SDHA, SEMA5A, SEMA5A-AS1, SLC12A7, SLC6A18, SLC6A19, SLC6A3, SLC9A3, SLC9A3-AS1, SLC9A3-OT1, SNHG18, SNORD123, SRD5A1, TAS2R1, TENT4A, TERLR1, TERT, TPPP, TRIP13, UBE2QL1, ZDHHC11, ZDHHC11B
See casesPathogenic
(Nov 4, 2011)
no assertion criteria provided
24.
GRCh37:
Chr5:22149-11429370
GRCh38:
Chr5:22149-11429258
ADAMTS16, ADAMTS16-DT, ADCY2, AHRR, ANKRD33B, ATPSCKMT, BRD9, CCDC127, CCT5, CEP72, CEP72-DT, CFAP90, CLPTM1L, CMBL, CTD-2194D22.4, CTNND2, DAP, DAP-DT, EXOC3, EXOC3-AS1, FASTKD3, ICE1, IRX1, IRX2, IRX2-DT, IRX4, IRX4-AS1, LINC01017, LINC01018, LINC01019, LINC01020, LINC01377, LINC01511, LINC02063, LINC02102, LINC02112, LINC02114, LINC02116, LINC02121, LINC02123, LINC02142, LINC02145, LINC02162, LINC02199, LINC02212, LINC02213, LINC02221, LINC02226, LINC02236, LINC02982, LOC100506858, LOC105374618, LOC105374620, 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, LOC123493256, LOC123493257, LOC123493258, LOC123493259, LOC123493260, LOC123493261, LOC123493262, LOC123493263, LOC123493264, LOC123493265, LOC124901163, 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, LOC128772262, LOC128772263, LOC128772264, LPCAT1, LRRC14B, LSINCT5, MARCHF6, MARCHF6-DT, MED10, MIR10397, MIR4277, MIR4278, MIR4456, MIR4457, MIR4458, MIR4458HG, MIR4635, MIR4636, MIR6075, MIR6131, MNS16A, MRPL36, MTRR, NDUFS6, NKD2, NSUN2, PDCD6, PDCD6-AHRR, PDCD6-DT, PLEKHG4B, ROPN1L, ROPN1L-AS1, SDHA, SEMA5A, SEMA5A-AS1, SLC12A7, SLC6A18, SLC6A19, SLC6A3, SLC9A3, SLC9A3-AS1, SLC9A3-OT1, SNHG18, SNORD123, SRD5A1, TAS2R1, TENT4A, TERLR1, TERT, TPPP, TRIP13, UBE2QL1, ZDHHC11, ZDHHC11B
See casesPathogenic
(Oct 26, 2011)
no assertion criteria provided
25.
GRCh37:
Chr5:22149-23607162
GRCh38:
Chr5:22149-23607053
ADAMTS16, ADAMTS16-DT, ADCY2, AHRR, ANKH, ANKRD33B, ATPSCKMT, BASP1, BASP1-AS1, BRD9, CCDC127, CCT5, CDH12, CDH18, CDH18-AS1, CEP72, CEP72-DT, CFAP90, CLPTM1L, CMBL, CTD-2194D22.4, CTD-2350J17.1, CTNND2, DAP, DAP-DT, DNAH5, EXOC3, EXOC3-AS1, FASTKD3, FBXL7, H3Y1, H3Y2, ICE1, IRX1, IRX2, IRX2-DT, 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, LINC02982, LOC100130744, 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, LOC123493256, LOC123493257, LOC123493258, LOC123493259, LOC123493260, LOC123493261, LOC123493262, LOC123493263, LOC123493264, LOC123493265, LOC123493266, LOC123493267, LOC123493268, LOC123493269, LOC123493270, LOC123493271, LOC123493272, LOC123493273, LOC123493274, LOC123493275, LOC123493276, LOC123493277, LOC123493278, LOC123493279, LOC124901163, 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, LOC128772262, LOC128772263, LOC128772264, LPCAT1, LRRC14B, LSINCT5, MARCHF11, MARCHF11-DT, MARCHF6, MARCHF6-DT, 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, PRDM9, RETREG1, RETREG1-AS1, ROPN1L, ROPN1L-AS1, SDHA, SEMA5A, SEMA5A-AS1, SLC12A7, SLC6A18, SLC6A19, SLC6A3, SLC9A3, SLC9A3-AS1, SLC9A3-OT1, SNHG18, SNORA105A, SNORD123, SNORD141B, SNORD170, SRD5A1, TAF11L10, TAF11L11, TAF11L12, TAF11L13, TAF11L14, TAF11L2, TAF11L3, TAF11L4, TAF11L5, TAF11L6, TAF11L7, TAF11L8, TAF11L9, TAS2R1, TENT4A, TERLR1, ZDHHC11, TERT, TPPP, TRIO, TRIP13, UBE2QL1, ZDHHC11B, ZNF622
See casesPathogenic
(Sep 30, 2011)
no assertion criteria provided
26.
GRCh37:
Chr5:22149-28075213
GRCh38:
Chr5:22149-28075106
ADAMTS16, ADAMTS16-DT, ADCY2, AHRR, ANKH, ANKRD33B, ATPSCKMT, BASP1, BASP1-AS1, BRD9, CCDC127, CCT5, CDH10, CDH12, CDH18, CDH18-AS1, CDH9, CEP72, CEP72-DT, CFAP90, CLPTM1L, CMBL, CTD-2194D22.4, CTD-2350J17.1, CTNND2, DAP, DAP-DT, DNAH5, EXOC3, EXOC3-AS1, FASTKD3, FBXL7, H3Y1, H3Y2, ICE1, IRX1, IRX2, IRX2-DT, 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, LINC02982, LOC100130744, 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, 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, LOC124901163, 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, LOC128772262, LOC128772263, LOC128772264, LPCAT1, LRRC14B, LSINCT5, MARCHF11, MARCHF11-DT, MARCHF6, MARCHF6-DT, 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, PRDM9, PURPL, RETREG1, RETREG1-AS1, ROPN1L, ROPN1L-AS1, SDHA, SEMA5A, SEMA5A-AS1, SLC12A7, SLC6A18, SLC6A19, SLC6A3, SLC9A3, SLC9A3-AS1, SLC9A3-OT1, SNHG18, SNORA105A, SNORD123, SNORD141B, SNORD170, SRD5A1, TAF11L10, TAF11L11, TAF11L12, TAF11L13, TAF11L14, TAF11L2, TAF11L3, TAF11L4, TAF11L5, TAF11L6, TAF11L7, TAF11L8, TAF11L9, TAS2R1, TENT4A, TERLR1, UBE2QL1, TERT, TPPP, TRIO, TRIP13, TRK-CTT9-1, ZDHHC11, ZDHHC11B, ZNF622
See casesPathogenic
(Aug 26, 2011)
no assertion criteria provided
27.
GRCh37:
Chr5:22149-28429348
GRCh38:
Chr5:22149-28429241
ADAMTS16, ADAMTS16-DT, ADCY2, AHRR, ANKH, ANKRD33B, ATPSCKMT, BASP1, BASP1-AS1, BRD9, CCDC127, CCT5, CDH10, CDH12, CDH18, CDH18-AS1, CDH9, CEP72, CEP72-DT, CFAP90, CLPTM1L, CMBL, CTD-2194D22.4, CTD-2350J17.1, CTNND2, DAP, DAP-DT, DNAH5, EXOC3, EXOC3-AS1, FASTKD3, FBXL7, H3Y1, H3Y2, ICE1, IRX1, IRX2, IRX2-DT, 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, LINC02982, LOC100130744, 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, 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, LOC124901163, 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, LOC128772262, LOC128772263, LOC128772264, LPCAT1, LRRC14B, LSINCT5, MARCHF11, MARCHF11-DT, MARCHF6, MARCHF6-DT, 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, PRDM9, PURPL, RETREG1, RETREG1-AS1, ROPN1L, ROPN1L-AS1, SDHA, SEMA5A,