55654[geneid] - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 591451.	GRCh38/hg38 2p11.2-q11.2(chr2:91443218-102334856)x3 GRCh37: Chr2:91617683-102951316 GRCh38: Chr2:91443218-102334856	ACTR1B, ADRA2B, AFF3, ANKRD23, ANKRD36, ANKRD36B, ANKRD36C, ANKRD39, APPAT, AQP7B, ARID5A, ASTL, C2orf15, C2orf92, CHST10, CIAO1, CNGA3, CNNM3, CNNM3-DT, CNNM4, CNOT11, COA5, COX5B, CRACDL, CREG2, DUSP2, EIF5B, FAHD2A, FAHD2B, FAM178B, FAM95A, FER1L5, FRA2A, GPAT2, IL1R1, IL1R1-AS1, IL1R2, IL1RL1, IL1RL2, INPP4A, ITPRIPL1, KANSL3, KCNIP3, LINC00342, LINC01104, LINC01127, LINC01849, LINC02611, LINC03052, LIPT1, LMAN2L, LOC100506076, LOC101927053, LOC105373496, LOC110121224, LOC110121226, LOC111721715, LOC111828510, LOC112841606, LOC112841607, LOC112841608, LOC120961773, LOC120961774, LOC120961775, LOC120961776, LOC120961777, LOC122817709, LOC122817710, LOC122817711, LOC122817712, LOC122817713, LOC122817714, LOC122817715, LOC122817716, LOC122817717, LOC122817718, LOC126806270, LOC126806271, LOC126806272, LOC126806273, LOC126806274, LOC126806275, LOC126806276, LOC126806277, LOC126806278, LOC126806279, LOC126806280, LOC126806281, LOC126806282, LOC126806283, LOC126806284, LOC126806285, LOC126806286, LOC126806287, LOC126806288, LOC126806289, LOC126806290, LOC442028, LONRF2, LYG1, LYG2, MAL, MAP4K4, MGAT4A, MIR3127, MIR5696, MITD1, MRPL30, MRPS5, NCAPH, NEURL3, NMS, NPAS2, NPAS2-AS1, PDCL3, PROM2, REV1, RFX8, RNF149, RPL31, SEMA4C, SNORA112, SNORD89, SNRNP200, STARD7, STARD7-AS1, TBC1D8, TBC1D8-AS1, TEKT4, TMEM127, TMEM131, TRIM43, TRIM43B, TSGA10, TXNDC9, UNC50, VWA3B, ZAP70, ZNF2, ZNF514, ZNF892		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 1525372.	GRCh38/hg38 2q11.1-13(chr2:94678532-110602409)x3 GRCh37: Chr2:95344257-111359986 GRCh38: Chr2:94678532-110602409	ACTR1B, ADRA2B, AFF3, ANKRD23, ANKRD36, ANKRD36B, ANKRD36C, ANKRD39, APPAT, ARID5A, ASTL, C2orf15, C2orf49, C2orf49-DT, C2orf92, CCDC138, CD8B2, CHST10, CIAO1, CNGA3, CNNM3, CNNM3-DT, CNNM4, CNOT11, COA5, COX5B, CRACDL, CREG2, DUSP2, ECRG4, EDAR, EIF5B, FAHD2A, FAHD2B, FAM178B, FAM95A, FER1L5, FHL2, FRA2A, GACAT1, GCC2, GCC2-AS1, GPAT2, GPR45, IL18R1, IL18RAP, IL1R1, IL1R1-AS1, IL1R2, IL1RL1, IL1RL2, INPP4A, ITPRIPL1, KANSL3, KCNIP3, LIMS1, LIMS1-AS1, LIMS3, LIMS3-LOC440895, LIMS4, LINC00342, LINC01102, LINC01103, LINC01104, LINC01106, LINC01114, LINC01123, LINC01127, LINC01159, LINC01593, LINC01594, LINC01789, LINC01796, LINC01831, LINC01849, LINC01885, LINC01886, LINC01918, LINC01935, LINC02611, LINC02946, LINC03052, LIPT1, LMAN2L, LOC100287010, LOC100506076, LOC101927053, LOC101927383, LOC105373496, LOC105373524, LOC105373525, LOC105373526, LOC107305683, LOC107305684, LOC107305685, LOC107305686, LOC110120670, LOC110120750, LOC110120793, LOC110120814, LOC110120821, LOC110120987, LOC110120992, LOC110121001, LOC110121005, LOC110121017, LOC110121029, LOC110121047, LOC110121130, LOC110121132, LOC110121135, LOC110121140, LOC110121141, LOC110121142, LOC110121149, LOC110121224, LOC110121226, LOC111721715, LOC111828510, LOC112695110, LOC112695111, LOC112695112, LOC112695113, LOC112695114, LOC112695115, LOC112841606, LOC112841607, LOC112841608, LOC114004366, LOC114827847, LOC120961773, LOC120961774, LOC120961775, LOC120961776, LOC120961777, LOC120961778, LOC121725098, LOC122817709, LOC122817710, LOC122817711, LOC122817712, LOC122817713, LOC122817714, LOC122817715, LOC122817716, LOC122817717, LOC122817718, LOC122817719, LOC122817720, LOC122817721, LOC122817722, LOC126806270, LOC126806271, LOC126806272, LOC126806273, LOC126806274, LOC126806275, LOC126806276, LOC126806277, LOC126806278, LOC126806279, LOC126806280, LOC126806281, LOC126806282, LOC126806283, LOC126806284, LOC126806285, LOC126806286, LOC126806287, LOC126806288, LOC126806289, LOC126806290, LOC126806291, LOC126806292, LOC126806293, LOC126806294, LOC126806295, LOC126806296, LOC126806297, LOC126806298, LOC126806299, LOC126806300, LOC126806301, LOC126806302, LOC126806303, LOC126806304, LOC126806305, LOC126806306, LOC442028, LONRF2, LYG1, LYG2, MAL, MALL, MAP4K4, MFSD9, MGAT4A, MIR3127, MIR4265, MIR4266, MIR4267, MIR4436B1, MIR4436B2, MIR4772, MIR5696, MITD1, MRPL30, MRPS5, MRPS9, MRPS9-AS1, MRPS9-AS2, MTLN, NCAPH, NCK2, NEURL3, NMS, NPAS2, NPAS2-AS1, NPHP1, PANTR1, PDCL3, POU3F3, PROM2, RANBP2, REV1, RFX8, RGPD3, RGPD4, RGPD4-AS1, RGPD5, RGPD6, RNF149, RPL31, SEMA4C, SEPTIN10, SH3RF3, SH3RF3-AS1, SLC5A7, SLC9A2, SLC9A4, SNORA112, SNORD89, SNRNP200, SOWAHC, ST6GAL2, STARD7, STARD7-AS1, SULT1C2, SULT1C3, SULT1C4, TBC1D8, TBC1D8-AS1, TEKT4, TGFBRAP1, TMEM127, TMEM131, TMEM182, TRIM43, TRIM43B, TSGA10, TXNDC9, UNC50, UXS1, VWA3B, ZAP70, ZNF2, ZNF514, ZNF892		See cases	Pathogenic (Apr 30, 2011)	no assertion criteria provided
Select item 591463.	GRCh38/hg38 2q11.1-12.1(chr2:94817406-103252396)x3 GRCh37: Chr2:95618109-103868854 GRCh38: Chr2:94817406-103252396	ACTR1B, ADRA2B, AFF3, ANKRD23, ANKRD36, ANKRD36B, ANKRD36C, ANKRD39, APPAT, ARID5A, ASTL, C2orf15, C2orf92, CHST10, CIAO1, CNGA3, CNNM3, CNNM3-DT, CNNM4, CNOT11, COA5, COX5B, CRACDL, CREG2, DUSP2, EIF5B, FAHD2A, FAHD2B, FAM178B, FER1L5, FRA2A, GPAT2, IL18R1, IL18RAP, IL1R1, IL1R1-AS1, IL1R2, IL1RL1, IL1RL2, INPP4A, ITPRIPL1, KANSL3, KCNIP3, LINC00342, LINC01104, LINC01127, LINC01796, LINC01849, LINC01935, LINC02611, LINC03052, LIPT1, LMAN2L, LOC100506076, LOC101927053, LOC105373496, LOC110120987, LOC110121029, LOC110121149, LOC110121224, LOC110121226, LOC111721715, LOC111828510, LOC112841606, LOC112841607, LOC112841608, LOC120961773, LOC120961774, LOC120961775, LOC120961776, LOC120961777, LOC122817709, LOC122817710, LOC122817711, LOC122817712, LOC122817713, LOC122817714, LOC122817715, LOC122817716, LOC122817717, LOC122817718, LOC126806270, LOC126806271, LOC126806272, LOC126806273, LOC126806274, LOC126806275, LOC126806276, LOC126806277, LOC126806278, LOC126806279, LOC126806280, LOC126806281, LOC126806282, LOC126806283, LOC126806284, LOC126806285, LOC126806286, LOC126806287, LOC126806288, LOC126806289, LOC126806290, LOC126806291, LOC126806292, LOC126806293, LOC442028, LONRF2, LYG1, LYG2, MAL, MAP4K4, MFSD9, MGAT4A, MIR3127, MIR4772, MIR5696, MITD1, MRPL30, MRPS5, NCAPH, NEURL3, NMS, NPAS2, NPAS2-AS1, PDCL3, PROM2, REV1, RFX8, RNF149, RPL31, SEMA4C, SLC9A2, SLC9A4, SNORA112, SNORD89, SNRNP200, STARD7, STARD7-AS1, TBC1D8, TBC1D8-AS1, TEKT4, TMEM127, TMEM131, TMEM182, TRIM43, TRIM43B, TSGA10, TXNDC9, UNC50, VWA3B, ZAP70, ZNF2, ZNF514, ZNF892		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 1489504.	GRCh38/hg38 2q11.1-11.2(chr2:95337458-99072953)x3 GRCh37: Chr2:96003206-99689416 GRCh38: Chr2:95337458-99072953	ACTR1B, ADRA2B, ANKRD23, ANKRD36, ANKRD36B, ANKRD36C, ANKRD39, APPAT, ARID5A, ASTL, C2orf92, CIAO1, CNGA3, CNNM3, CNNM3-DT, CNNM4, COA5, COX5B, CRACDL, DUSP2, FAHD2A, FAHD2B, FAM178B, FER1L5, GPAT2, INPP4A, ITPRIPL1, KANSL3, KCNIP3, LINC00342, LINC02611, LINC03052, LMAN2L, LOC100506076, LOC101927053, LOC105373496, LOC110121224, LOC111721715, LOC112841606, LOC112841607, LOC112841608, LOC120961773, LOC122817709, LOC122817710, LOC122817711, LOC122817712, LOC122817713, LOC122817714, LOC122817715, LOC126806271, LOC126806272, LOC126806273, LOC126806274, LOC126806275, LOC126806276, LOC126806277, LOC126806278, LOC126806279, LOC126806280, MGAT4A, MIR3127, NCAPH, NEURL3, SEMA4C, SNORA112, SNRNP200, STARD7, STARD7-AS1, TMEM127, TMEM131, TRIM43, TRIM43B, TSGA10, UNC50, VWA3B, ZAP70		See cases	Uncertain significance (Dec 16, 2011)	no assertion criteria provided
Select item 1443575.	GRCh38/hg38 2q11.1-11.2(chr2:95493468-96977610)x3 GRCh37: Chr2:96159216-97643347 GRCh38: Chr2:95493468-96977610	ADRA2B, ANKRD23, ANKRD36C, ANKRD39, ARID5A, ASTL, CIAO1, CNNM3, CNNM3-DT, CNNM4, DUSP2, FAM178B, FER1L5, GPAT2, ITPRIPL1, KANSL3, LINC00342, LINC03052, LMAN2L, LOC101927053, LOC105373496, LOC110121224, LOC112841606, LOC112841607, LOC112841608, LOC122817710, LOC122817711, LOC126806271, LOC126806272, LOC126806273, LOC126806274, LOC126806275, MIR3127, NCAPH, NEURL3, SEMA4C, SNORA112, SNRNP200, STARD7, STARD7-AS1, TMEM127, TRIM43		See cases	Uncertain significance (Dec 30, 2009)	no assertion criteria provided
Select item 1487516.	GRCh38/hg38 2q11.1-11.2(chr2:95766541-97589743)x3 GRCh37: Chr2:96432289-98206206 GRCh38: Chr2:95766541-97589743	ADRA2B, ANKRD23, ANKRD36, ANKRD36B, ANKRD36C, ANKRD39, APPAT, ARID5A, ASTL, CIAO1, CNNM3, CNNM3-DT, CNNM4, DUSP2, FAHD2B, FAM178B, FER1L5, GPAT2, ITPRIPL1, KANSL3, LINC00342, LMAN2L, LOC100506076, LOC101927053, LOC105373496, LOC110121224, LOC112841606, LOC112841607, LOC112841608, LOC122817710, LOC122817711, LOC126806271, LOC126806272, LOC126806273, LOC126806274, LOC126806275, MIR3127, NCAPH, NEURL3, SEMA4C, SNORA112, SNRNP200, STARD7, STARD7-AS1, TMEM127		See cases	Uncertain significance (Sep 30, 2011)	no assertion criteria provided
Select item 593087.	GRCh38/hg38 2q11.1-11.2(chr2:95806265-97285797)x3 GRCh37: Chr2:96472013-98013866 GRCh38: Chr2:95806265-97285797	ADRA2B, ANKRD23, ANKRD36, ANKRD36C, ANKRD39, ARID5A, ASTL, CIAO1, CNNM3, CNNM3-DT, CNNM4, DUSP2, FAHD2B, FAM178B, FER1L5, GPAT2, ITPRIPL1, KANSL3, LINC00342, LMAN2L, LOC100506076, LOC101927053, LOC105373496, LOC110121224, LOC112841606, LOC112841607, LOC112841608, LOC122817710, LOC122817711, LOC126806271, LOC126806272, LOC126806273, LOC126806274, LOC126806275, MIR3127, NCAPH, NEURL3, SEMA4C, SNORA112, SNRNP200, STARD7, STARD7-AS1, TMEM127		See cases	Uncertain significance (Aug 12, 2011)	criteria provided, single submitter
Select item 593098.	GRCh38/hg38 2q11.1-11.2(chr2:95810453-97024341)x3 GRCh37: Chr2:96476201-97690078 GRCh38: Chr2:95810453-97024341	ADRA2B, ANKRD23, ANKRD36C, ANKRD39, ARID5A, ASTL, CIAO1, CNNM3, CNNM3-DT, CNNM4, DUSP2, FAM178B, FER1L5, GPAT2, ITPRIPL1, KANSL3, LINC00342, LMAN2L, LOC101927053, LOC105373496, LOC110121224, LOC112841606, LOC112841607, LOC112841608, LOC122817710, LOC122817711, LOC126806271, LOC126806272, LOC126806273, LOC126806274, LOC126806275, MIR3127, NCAPH, NEURL3, SEMA4C, SNORA112, SNRNP200, STARD7, STARD7-AS1, TMEM127		See cases	Uncertain significance (Aug 12, 2011)	criteria provided, single submitter
Select item 1609609.	GRCh38/hg38 2q11.1-11.2(chr2:95879602-97029672)x3 GRCh37: Chr2:96545350-97695409 GRCh38: Chr2:95879602-97029672	ADRA2B, ANKRD23, ANKRD36C, ANKRD39, ARID5A, ASTL, CIAO1, CNNM3, CNNM3-DT, CNNM4, DUSP2, FAM178B, FER1L5, GPAT2, ITPRIPL1, KANSL3, LMAN2L, LOC101927053, LOC105373496, LOC110121224, LOC112841606, LOC112841607, LOC112841608, LOC122817710, LOC122817711, LOC126806271, LOC126806272, LOC126806273, LOC126806274, LOC126806275, MIR3127, NCAPH, NEURL3, SEMA4C, SNORA112, SNRNP200, STARD7, STARD7-AS1, TMEM127		See cases	Uncertain significance (Aug 12, 2011)	criteria provided, single submitter
Select item 14471210.	GRCh38/hg38 2q11.1-11.2(chr2:95879602-97029672)x1 GRCh37: Chr2:96545350-97695409 GRCh38: Chr2:95879602-97029672	ADRA2B, ANKRD23, ANKRD36C, ANKRD39, ARID5A, ASTL, CIAO1, CNNM3, CNNM3-DT, CNNM4, DUSP2, FAM178B, FER1L5, GPAT2, ITPRIPL1, KANSL3, LMAN2L, LOC101927053, LOC105373496, LOC110121224, LOC112841606, LOC112841607, LOC112841608, LOC122817710, LOC122817711, LOC126806271, LOC126806272, LOC126806273, LOC126806274, LOC126806275, MIR3127, NCAPH, NEURL3, SEMA4C, SNORA112, SNRNP200, STARD7, STARD7-AS1, TMEM127		See cases	Pathogenic (Aug 5, 2011)	no assertion criteria provided
Select item 5754311.	GRCh38/hg38 2q11.1-11.2(chr2:95879602-97285797)x1 GRCh37: Chr2:96545350-98013866 GRCh38: Chr2:95879602-97285797	ADRA2B, ANKRD23, ANKRD36, ANKRD36C, ANKRD39, ARID5A, ASTL, CIAO1, CNNM3, CNNM3-DT, CNNM4, DUSP2, FAHD2B, FAM178B, FER1L5, GPAT2, ITPRIPL1, KANSL3, LMAN2L, LOC100506076, LOC101927053, LOC105373496, LOC110121224, LOC112841606, LOC112841607, LOC112841608, LOC122817710, LOC122817711, LOC126806271, LOC126806272, LOC126806273, LOC126806274, LOC126806275, MIR3127, NCAPH, NEURL3, SEMA4C, SNORA112, SNRNP200, STARD7, STARD7-AS1, TMEM127		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 5931012.	GRCh38/hg38 2q11.1-11.2(chr2:95880668-97131646)x3 GRCh37: Chr2:96546416-97797383 GRCh38: Chr2:95880668-97131646	ADRA2B, ANKRD23, ANKRD36, ANKRD36C, ANKRD39, ARID5A, ASTL, CIAO1, CNNM3, CNNM3-DT, CNNM4, DUSP2, FAHD2B, FAM178B, FER1L5, GPAT2, ITPRIPL1, KANSL3, LMAN2L, LOC101927053, LOC105373496, LOC110121224, LOC112841606, LOC112841607, LOC112841608, LOC122817710, LOC122817711, LOC126806271, LOC126806272, LOC126806273, LOC126806274, LOC126806275, MIR3127, NCAPH, NEURL3, SEMA4C, SNORA112, SNRNP200, STARD7, STARD7-AS1, TMEM127		See cases	Uncertain significance (Aug 12, 2011)	criteria provided, single submitter
Select item 5931113.	GRCh38/hg38 2q11.1-11.2(chr2:95916534-97024341)x3 GRCh37: Chr2:96582282-97690078 GRCh38: Chr2:95916534-97024341	ADRA2B, ANKRD23, ANKRD36C, ANKRD39, ARID5A, ASTL, CIAO1, CNNM3, CNNM3-DT, CNNM4, DUSP2, FAM178B, FER1L5, GPAT2, ITPRIPL1, KANSL3, LMAN2L, LOC101927053, LOC105373496, LOC110121224, LOC112841606, LOC112841607, LOC112841608, LOC122817710, LOC122817711, LOC126806271, LOC126806272, LOC126806273, LOC126806274, LOC126806275, MIR3127, NCAPH, NEURL3, SEMA4C, SNORA112, SNRNP200, STARD7, STARD7-AS1, TMEM127		See cases	Uncertain significance (Aug 12, 2011)	criteria provided, single submitter
Select item 54528414.	NC_000002.12:g.(?_96063558)_(97079140_?)del GRCh38: Chr2:96063558-97079140	ASTL, CNNM3, CNNM3-DT, CIAO1, ANKRD39, ARID5A, DUSP2, FAHD2B, ITPRIPL1, KANSL3, FAM178B, FER1L5, CNNM4, ANKRD23, ADRA2B, LMAN2L, LOC101927053, LOC105373496, LOC110121224, LOC112841606, LOC112841607, LOC112841608, LOC122817710, LOC122817711, LOC126806271, LOC126806272, LOC126806273, LOC126806274, LOC126806275, MIR3127, NCAPH, NEURL3, SEMA4C, SNORA112, SNRNP200, STARD7, STARD7-AS1, TMEM127		Schizophrenia	Likely pathogenic (Mar 20, 2018)	criteria provided, single submitter
Select item 15395515.	GRCh38/hg38 2q11.2(chr2:96066771-97285797)x3 GRCh37: Chr2:96732519-98079569 GRCh38: Chr2:96066771-97285797	ADRA2B, ANKRD23, ANKRD36, ANKRD39, ARID5A, ASTL, CIAO1, CNNM3, CNNM3-DT, CNNM4, DUSP2, FAHD2B, FAM178B, FER1L5, ITPRIPL1, KANSL3, LMAN2L, LOC100506076, LOC101927053, LOC105373496, LOC110121224, LOC112841606, LOC112841607, LOC112841608, LOC122817710, LOC122817711, LOC126806271, LOC126806272, LOC126806273, LOC126806274, LOC126806275, MIR3127, NCAPH, NEURL3, SEMA4C, SNORA112, SNRNP200, STARD7, STARD7-AS1, TMEM127		See cases	Uncertain significance (Dec 16, 2014)	no assertion criteria provided
Select item 15507516.	GRCh38/hg38 2q11.2(chr2:96073560-97589743)x3 GRCh37: Chr2:96739308-98206206 GRCh38: Chr2:96073560-97589743	ADRA2B, ANKRD23, ANKRD36, ANKRD36B, ANKRD39, APPAT, ARID5A, ASTL, CIAO1, CNNM3, CNNM3-DT, CNNM4, DUSP2, FAHD2B, FAM178B, FER1L5, ITPRIPL1, KANSL3, LMAN2L, LOC100506076, LOC101927053, LOC105373496, LOC110121224, LOC112841606, LOC112841607, LOC112841608, LOC122817710, LOC122817711, LOC126806271, LOC126806272, LOC126806273, LOC126806274, LOC126806275, MIR3127, NCAPH, NEURL3, SEMA4C, SNORA112, SNRNP200, STARD7, STARD7-AS1, TMEM127		See cases	Likely benign (Jan 25, 2013)	no assertion criteria provided
Select item 15473317.	GRCh38/hg38 2q11.2(chr2:96073560-97513144)x1 GRCh37: Chr2:96739308-98066294 GRCh38: Chr2:96073560-97513144	ADRA2B, ANKRD23, ANKRD36, ANKRD36B, ANKRD39, APPAT, ARID5A, ASTL, CIAO1, CNNM3, CNNM3-DT, CNNM4, DUSP2, FAHD2B, FAM178B, FER1L5, ITPRIPL1, KANSL3, LMAN2L, LOC100506076, LOC101927053, LOC105373496, LOC110121224, LOC112841606, LOC112841607, LOC112841608, LOC122817710, LOC122817711, LOC126806271, LOC126806272, LOC126806273, LOC126806274, LOC126806275, MIR3127, NCAPH, NEURL3, SEMA4C, SNORA112, SNRNP200, STARD7, STARD7-AS1, TMEM127		See cases	Pathogenic (Oct 24, 2012)	no assertion criteria provided
Select item 14601718.	GRCh38/hg38 2q11.2(chr2:96073560-97062710)x1 GRCh37: Chr2:96739308-97728447 GRCh38: Chr2:96073560-97062710	ADRA2B, ANKRD23, ANKRD39, ARID5A, ASTL, CIAO1, CNNM3, CNNM3-DT, CNNM4, DUSP2, FAM178B, FER1L5, ITPRIPL1, KANSL3, LMAN2L, LOC101927053, LOC105373496, LOC110121224, LOC112841606, LOC112841607, LOC112841608, LOC122817710, LOC122817711, LOC126806271, LOC126806272, LOC126806273, LOC126806274, LOC126806275, MIR3127, NCAPH, NEURL3, SEMA4C, SNORA112, SNRNP200, STARD7, STARD7-AS1, TMEM127		See cases	Pathogenic (Nov 30, 2010)	no assertion criteria provided
Select item 14789719.	GRCh38/hg38 2q11.2(chr2:96100812-97154835)x1 GRCh37: Chr2:96766560-97820572 GRCh38: Chr2:96100812-97154835	ADRA2B, ANKRD23, ANKRD36, ANKRD39, ARID5A, ASTL, CIAO1, CNNM3, CNNM3-DT, CNNM4, DUSP2, FAHD2B, FAM178B, FER1L5, ITPRIPL1, KANSL3, LMAN2L, LOC101927053, LOC105373496, LOC110121224, LOC112841606, LOC112841607, LOC112841608, LOC122817710, LOC122817711, LOC126806271, LOC126806272, LOC126806273, LOC126806274, LOC126806275, MIR3127, NCAPH, NEURL3, SEMA4C, SNORA112, SNRNP200, STARD7, STARD7-AS1, TMEM127		See cases	Uncertain significance (Oct 19, 2010)	no assertion criteria provided
Select item 5743420.	GRCh38/hg38 2q11.2(chr2:96100812-97285797)x1 GRCh37: Chr2:96766560-98013866 GRCh38: Chr2:96100812-97285797	ADRA2B, ANKRD23, ANKRD36, ANKRD39, ARID5A, ASTL, CIAO1, CNNM3, CNNM3-DT, CNNM4, DUSP2, FAHD2B, FAM178B, FER1L5, ITPRIPL1, KANSL3, LMAN2L, LOC100506076, LOC101927053, LOC105373496, LOC110121224, LOC112841606, LOC112841607, LOC112841608, LOC122817710, LOC122817711, LOC126806271, LOC126806272, LOC126806273, LOC126806274, LOC126806275, MIR3127, NCAPH, NEURL3, SEMA4C, SNORA112, SNRNP200, STARD7, STARD7-AS1, TMEM127		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 15474721.	GRCh38/hg38 2q11.2(chr2:96100816-97285797)x3 GRCh37: Chr2:96766564-98013954 GRCh38: Chr2:96100816-97285797	ADRA2B, ANKRD23, ANKRD36, ANKRD39, ARID5A, ASTL, CIAO1, CNNM3, CNNM3-DT, CNNM4, DUSP2, FAHD2B, FAM178B, FER1L5, ITPRIPL1, KANSL3, LMAN2L, LOC100506076, LOC101927053, LOC105373496, LOC110121224, LOC112841606, LOC112841607, LOC112841608, LOC122817710, LOC122817711, LOC126806271, LOC126806272, LOC126806273, LOC126806274, LOC126806275, MIR3127, NCAPH, NEURL3, SEMA4C, SNORA112, SNRNP200, STARD7, STARD7-AS1, TMEM127		See cases	Uncertain significance (Sep 21, 2012)	no assertion criteria provided
Select item 24122022.	NM_017849.3(TMEM127):c.-131-?_*3600del GRCh37: Chr2:96915946-96931250 GRCh38: Chr2:96250208-96265512	LOC110121224, TMEM127		Hereditary pheochromocytoma-paraganglioma	Pathogenic (Nov 23, 2016)	criteria provided, single submitter
Select item 89761123.	NM_017849.4(TMEM127):c.*3584G>C GRCh37: Chr2:96915962 GRCh38: Chr2:96250224	TMEM127		Pheochromocytoma	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 33744424.	NM_017849.4(TMEM127):c.*3569C>T GRCh37: Chr2:96915977 GRCh38: Chr2:96250239	TMEM127		Pheochromocytoma	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 33744525.	NM_017849.4(TMEM127):c.*3568C>G GRCh37: Chr2:96915978 GRCh38: Chr2:96250240	TMEM127		Pheochromocytoma	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33744626.	NM_017849.4(TMEM127):c.*3560G>T GRCh37: Chr2:96915986 GRCh38: Chr2:96250248	TMEM127		Pheochromocytoma	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89761227.	NM_017849.4(TMEM127):c.*3396G>A GRCh37: Chr2:96916150 GRCh38: Chr2:96250412	TMEM127		Pheochromocytoma	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89761328.	NM_017849.4(TMEM127):c.*3391G>A GRCh37: Chr2:96916155 GRCh38: Chr2:96250417	TMEM127		Pheochromocytoma	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33744729.	NM_017849.4(TMEM127):c.*3348G>C GRCh37: Chr2:96916198 GRCh38: Chr2:96250460	TMEM127		Pheochromocytoma	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89761430.	NM_017849.4(TMEM127):c.*3271A>G GRCh37: Chr2:96916275 GRCh38: Chr2:96250537	TMEM127		Pheochromocytoma	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33744831.	NM_017849.4(TMEM127):c.*3209A>G GRCh37: Chr2:96916337 GRCh38: Chr2:96250599	TMEM127		Pheochromocytoma	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 33744932.	NM_017849.4(TMEM127):c.*3200GTT[2] GRCh37: Chr2:96916338-96916340 GRCh38: Chr2:96250600-96250602	TMEM127		Pheochromocytoma	Likely benign (Jun 14, 2016)	criteria provided, single submitter
Select item 33745033.	NM_017849.4(TMEM127):c.*3134C>T GRCh37: Chr2:96916412 GRCh38: Chr2:96250674	TMEM127		Pheochromocytoma	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89877034.	NM_017849.4(TMEM127):c.*3049T>C GRCh37: Chr2:96916497 GRCh38: Chr2:96250759	TMEM127		Pheochromocytoma	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33745135.	NM_017849.4(TMEM127):c.*3025G>C GRCh37: Chr2:96916521 GRCh38: Chr2:96250783	TMEM127		Pheochromocytoma	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33745236.	NM_017849.4(TMEM127):c.*2966C>G GRCh37: Chr2:96916580 GRCh38: Chr2:96250842	TMEM127		Pheochromocytoma	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 89877137.	NM_017849.4(TMEM127):c.*2911C>T GRCh37: Chr2:96916635 GRCh38: Chr2:96250897	TMEM127		Pheochromocytoma	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33745338.	NM_017849.4(TMEM127):c.*2888del GRCh37: Chr2:96916658 GRCh38: Chr2:96250920	TMEM127		Pheochromocytoma	Likely benign (Jun 14, 2016)	criteria provided, single submitter
Select item 89877239.	NM_017849.4(TMEM127):c.*2875A>G GRCh37: Chr2:96916671 GRCh38: Chr2:96250933	TMEM127		Pheochromocytoma	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89877340.	NM_017849.4(TMEM127):c.*2860A>G GRCh37: Chr2:96916686 GRCh38: Chr2:96250948	TMEM127		Pheochromocytoma	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33745441.	NM_017849.4(TMEM127):c.*2845T>G GRCh37: Chr2:96916701 GRCh38: Chr2:96250963	TMEM127		Pheochromocytoma	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 89580042.	NM_017849.4(TMEM127):c.*2800T>G GRCh37: Chr2:96916746 GRCh38: Chr2:96251008	TMEM127		Pheochromocytoma	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 33745543.	NM_017849.4(TMEM127):c.*2760A>C GRCh37: Chr2:96916786 GRCh38: Chr2:96251048	TMEM127		Pheochromocytoma	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33745644.	NM_017849.4(TMEM127):c.*2719G>A GRCh37: Chr2:96916827 GRCh38: Chr2:96251089	TMEM127		Pheochromocytoma	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 33745745.	NM_017849.4(TMEM127):c.*2717C>G GRCh37: Chr2:96916829 GRCh38: Chr2:96251091	TMEM127		Pheochromocytoma	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 89580146.	NM_017849.4(TMEM127):c.*2684C>G GRCh37: Chr2:96916862 GRCh38: Chr2:96251124	TMEM127		Pheochromocytoma	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33745847.	NM_017849.4(TMEM127):c.*2642C>T GRCh37: Chr2:96916904 GRCh38: Chr2:96251166	TMEM127		Pheochromocytoma	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89580248.	NM_017849.4(TMEM127):c.*2563G>A GRCh37: Chr2:96916983 GRCh38: Chr2:96251245	TMEM127		Pheochromocytoma	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33745949.	NM_017849.4(TMEM127):c.*2548T>C GRCh37: Chr2:96916998 GRCh38: Chr2:96251260	TMEM127		Pheochromocytoma	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89608550.	NM_017849.4(TMEM127):c.*2518C>A GRCh37: Chr2:96917028 GRCh38: Chr2:96251290	TMEM127		Pheochromocytoma	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33746051.	NM_017849.4(TMEM127):c.*2503C>T GRCh37: Chr2:96917043 GRCh38: Chr2:96251305	TMEM127		Pheochromocytoma	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33746152.	NM_017849.4(TMEM127):c.*2498C>T GRCh37: Chr2:96917048 GRCh38: Chr2:96251310	TMEM127		Pheochromocytoma	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 33746253.	NM_017849.4(TMEM127):c.*2445G>T GRCh37: Chr2:96917101 GRCh38: Chr2:96251363	TMEM127		Pheochromocytoma	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89608654.	NM_017849.4(TMEM127):c.*2411C>A GRCh37: Chr2:96917135 GRCh38: Chr2:96251397	TMEM127		Pheochromocytoma	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 33746355.	NM_017849.4(TMEM127):c.*2300G>A GRCh37: Chr2:96917246 GRCh38: Chr2:96251508	TMEM127		Pheochromocytoma	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 89608756.	NM_017849.4(TMEM127):c.*2299C>T GRCh37: Chr2:96917247 GRCh38: Chr2:96251509	TMEM127		Pheochromocytoma	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33746457.	NM_017849.4(TMEM127):c.2291_2292del GRCh37: Chr2:96917254-96917255 GRCh38: Chr2:96251516-96251517	TMEM127		Pheochromocytoma	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 33746558.	NM_017849.4(TMEM127):c.*2270dup GRCh37: Chr2:96917275-96917276 GRCh38: Chr2:96251537-96251538	TMEM127		Pheochromocytoma	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 33746659.	NM_017849.4(TMEM127):c.*2245A>G GRCh37: Chr2:96917301 GRCh38: Chr2:96251563	TMEM127		Pheochromocytoma	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33746760.	NM_017849.4(TMEM127):c.*2171C>T GRCh37: Chr2:96917375 GRCh38: Chr2:96251637	TMEM127		Pheochromocytoma	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89767461.	NM_017849.4(TMEM127):c.*2128C>A GRCh37: Chr2:96917418 GRCh38: Chr2:96251680	TMEM127		Pheochromocytoma	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 33746862.	NM_017849.4(TMEM127):c.*2121G>T GRCh37: Chr2:96917425 GRCh38: Chr2:96251687	TMEM127		Pheochromocytoma	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 33746963.	NM_017849.4(TMEM127):c.2101_2103del GRCh37: Chr2:96917443-96917445 GRCh38: Chr2:96251705-96251707	TMEM127		Pheochromocytoma	Likely benign (Jun 14, 2016)	criteria provided, single submitter
Select item 33747064.	NM_017849.4(TMEM127):c.*2086C>T GRCh37: Chr2:96917460 GRCh38: Chr2:96251722	TMEM127		Pheochromocytoma	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 33747165.	NM_017849.4(TMEM127):c.*2012C>T GRCh37: Chr2:96917534 GRCh38: Chr2:96251796	TMEM127		Pheochromocytoma	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 33747266.	NM_017849.4(TMEM127):c.*1958A>C GRCh37: Chr2:96917588 GRCh38: Chr2:96251850	TMEM127		Pheochromocytoma	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 33747367.	NM_017849.4(TMEM127):c.1883_1886dup GRCh37: Chr2:96917659-96917660 GRCh38: Chr2:96251921-96251922	TMEM127		Pheochromocytoma	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 89767568.	NM_017849.4(TMEM127):c.*1879G>A GRCh37: Chr2:96917667 GRCh38: Chr2:96251929	TMEM127		Pheochromocytoma	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33747469.	NM_017849.4(TMEM127):c.*1849T>G GRCh37: Chr2:96917697 GRCh38: Chr2:96251959	TMEM127		Pheochromocytoma	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89883970.	NM_017849.4(TMEM127):c.*1822T>C GRCh37: Chr2:96917724 GRCh38: Chr2:96251986	TMEM127		Pheochromocytoma	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 33747671.	NM_017849.4(TMEM127):c.*1819C>A GRCh37: Chr2:96917727 GRCh38: Chr2:96251989	TMEM127		Pheochromocytoma	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33747572.	NM_017849.4(TMEM127):c.*1819C>G GRCh37: Chr2:96917727 GRCh38: Chr2:96251989	TMEM127		Pheochromocytoma	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33747773.	NM_017849.4(TMEM127):c.*1784C>T GRCh37: Chr2:96917762 GRCh38: Chr2:96252024	TMEM127		Pheochromocytoma	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33747874.	NM_017849.4(TMEM127):c.*1772G>A GRCh37: Chr2:96917774 GRCh38: Chr2:96252036	TMEM127		Pheochromocytoma	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 33747975.	NM_017849.4(TMEM127):c.*1723C>T GRCh37: Chr2:96917823 GRCh38: Chr2:96252085	TMEM127		Pheochromocytoma	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 33748076.	NM_017849.4(TMEM127):c.*1638G>C GRCh37: Chr2:96917908 GRCh38: Chr2:96252170	TMEM127		Pheochromocytoma	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 33748177.	NM_017849.4(TMEM127):c.*1620C>T GRCh37: Chr2:96917926 GRCh38: Chr2:96252188	TMEM127		Pheochromocytoma	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89587778.	NM_017849.4(TMEM127):c.*1505A>G GRCh37: Chr2:96918041 GRCh38: Chr2:96252303	TMEM127		Pheochromocytoma	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 33748279.	NM_017849.4(TMEM127):c.*1406G>A GRCh37: Chr2:96918140 GRCh38: Chr2:96252402	TMEM127		Pheochromocytoma	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33748380.	NM_017849.4(TMEM127):c.*1306C>T GRCh37: Chr2:96918240 GRCh38: Chr2:96252502	TMEM127		Pheochromocytoma	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 33748481.	NM_017849.4(TMEM127):c.*1301T>C GRCh37: Chr2:96918245 GRCh38: Chr2:96252507	TMEM127		Pheochromocytoma	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 89587882.	NM_017849.4(TMEM127):c.*1257C>G GRCh37: Chr2:96918289 GRCh38: Chr2:96252551	TMEM127		Pheochromocytoma	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 33748583.	NM_017849.4(TMEM127):c.*1252C>G GRCh37: Chr2:96918294 GRCh38: Chr2:96252556	TMEM127		Pheochromocytoma	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 33748684.	NM_017849.4(TMEM127):c.*1233C>T GRCh37: Chr2:96918313 GRCh38: Chr2:96252575	TMEM127		Pheochromocytoma	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 33748785.	NM_017849.4(TMEM127):c.*1197T>C GRCh37: Chr2:96918349 GRCh38: Chr2:96252611	TMEM127		Pheochromocytoma	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33748886.	NM_017849.4(TMEM127):c.*1178A>G GRCh37: Chr2:96918368 GRCh38: Chr2:96252630	TMEM127		Pheochromocytoma	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33748987.	NM_017849.4(TMEM127):c.*1163C>T GRCh37: Chr2:96918383 GRCh38: Chr2:96252645	TMEM127		Pheochromocytoma	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 89615188.	NM_017849.4(TMEM127):c.*980G>C GRCh37: Chr2:96918566 GRCh38: Chr2:96252828	TMEM127		Pheochromocytoma	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33749089.	NM_017849.4(TMEM127):c.*980G>A GRCh37: Chr2:96918566 GRCh38: Chr2:96252828	TMEM127		Pheochromocytoma	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33749190.	NM_017849.4(TMEM127):c.*883C>G GRCh37: Chr2:96918663 GRCh38: Chr2:96252925	TMEM127		Pheochromocytoma	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89615291.	NM_017849.4(TMEM127):c.*866C>T GRCh37: Chr2:96918680 GRCh38: Chr2:96252942	TMEM127		Pheochromocytoma	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 33749292.	NM_017849.4(TMEM127):c.*760dup GRCh37: Chr2:96918785-96918786 GRCh38: Chr2:96253047-96253048	TMEM127		not provided, Pheochromocytoma	Conflicting interpretations of pathogenicity (May 1, 2023)	criteria provided, conflicting interpretations
Select item 33749393.	NM_017849.4(TMEM127):c.*760del GRCh37: Chr2:96918786 GRCh38: Chr2:96253048	TMEM127		Pheochromocytoma	Likely benign (Jun 14, 2016)	criteria provided, single submitter
Select item 33749494.	NM_017849.4(TMEM127):c.*674dup GRCh37: Chr2:96918871-96918872 GRCh38: Chr2:96253133-96253134	TMEM127		Pheochromocytoma	Likely benign (Jun 14, 2016)	criteria provided, single submitter
Select item 33749595.	NM_017849.4(TMEM127):c.*662G>A GRCh37: Chr2:96918884 GRCh38: Chr2:96253146	TMEM127		Pheochromocytoma	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89775196.	NM_017849.4(TMEM127):c.*612C>T GRCh37: Chr2:96918934 GRCh38: Chr2:96253196	TMEM127		Pheochromocytoma	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 33749697.	NM_017849.4(TMEM127):c.*502C>T GRCh37: Chr2:96919044 GRCh38: Chr2:96253306	TMEM127		Pheochromocytoma	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 89775298.	NM_017849.4(TMEM127):c.*340G>A GRCh37: Chr2:96919206 GRCh38: Chr2:96253468	TMEM127		Pheochromocytoma	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33749799.	NM_017849.4(TMEM127):c.*338G>A GRCh37: Chr2:96919208 GRCh38: Chr2:96253470	TMEM127		Pheochromocytoma	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 337498100.	NM_017849.4(TMEM127):c.*249G>A GRCh37: Chr2:96919297 GRCh38: Chr2:96253559	TMEM127		Pheochromocytoma	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter

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