29957[geneid] - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 1460071.	GRCh38/hg38 1p21.3-13.3(chr1:97272349-108893138)x1 GRCh37: Chr1:97737905-109435760 GRCh38: Chr1:97272349-108893138	AGL, AKNAD1, AMY1A, AMY1B, AMY1C, AMY2A, AMY2B, CDC14A, COL11A1, DBT, DPH5, DPH5-DT, DPYD, DPYD-AS1, DPYD-AS2, EEIG2, EXTL2, FNDC7, FRRS1, GPR88, GPSM2, HENMT1, LINC01307, LINC01349, LINC01661, LINC01676, LINC01677, LINC01708, LINC01709, LINC01776, LINC01930, LOC107457601, LOC111556158, LOC112577470, LOC115801437, LOC120893148, LOC120893149, LOC120893150, LOC122094881, LOC122094882, LOC122094883, LOC122094884, LOC122094885, LOC122094886, LOC122094887, LOC122094888, LOC122094889, LOC122094890, LOC122094891, LOC126805802, LOC126805803, LOC126805804, LOC126805805, LOC126805806, LOC126805807, LOC126805808, LOC126805809, LOC126805810, LOC126805811, LOC126805812, LOC126805813, LOC126805814, LOC126805815, LOC126805816, LOC126805817, LOC126805818, LOC126805819, LOC129388566, LOC129388567, LOC129388568, LOC129388569, LOC129388570, LOC129388571, LOC129388572, LOC129930997, LOC129930998, LOC129930999, LOC129931000, LOC129931001, LOC129931002, LOC129931003, LOC129931004, LOC129931005, LOC129931006, LOC129931007, LOC129931008, LOC129931009, LOC129931010, LOC129931011, LOC129931012, LOC129931013, LOC129931014, LOC129931015, LOC129931016, LOC129931017, LOC129931018, LOC129931019, LOC129931020, LOC129931021, LOC129931022, LOC129931023, LOC129931024, LOC129931025, LOC129931026, LOC129931027, LOC129931028, LOC129931029, LOC129931030, LOC129931031, LOC129931032, LOC129931033, LOC129931034, LOC129931035, LOC129931036, LOC129931037, LOC129931038, LOC129931039, LOC129931040, LOC129931041, LOC129931042, LOC129931043, LOC129931044, LOC129931045, LOC129931046, LOC129931047, LOC129931048, LOC129931049, LOC129931050, LOC129931051, LOC129931052, LOC129931053, LOC129931054, LOC129931055, LOC129931056, LOC129931057, LOC129931058, LOC129931059, LOC129931060, LOC129931061, LOC129931062, LOC129931063, LOC129931064, LOC129931065, LOC129931066, LOC129931067, LOC129931068, LOC129931069, LOC129931070, LOC129931071, LOC129931072, LOC129931073, LOC129931074, LOC129931075, LOC129931076, LOC129931077, LOC129931078, LOC129931079, LOC129931080, LOC129931081, LOC129931082, LOC129931083, LOC129931084, LRRC39, MFSD14A, MIR137, MIR137HG, MIR2682, MIR553, MIR7852, NBPF4, NBPF6, NTNG1, OLFM3, PALMD, PLPPR4, PLPPR5, PLPPR5-AS1, PRMT6, PRPF38B, RNPC3, RNPC3-DT, RTCA, RTCA-AS1, S1PR1, S1PR1-DT, SASS6, SLC25A24, SLC30A7, SLC35A3, SNX7, SPATA42, STXBP3, TRMT13, VAV3, VAV3-AS1, VCAM1		See cases	Pathogenic (Nov 30, 2010)	no assertion criteria provided
Select item 600052.	GRCh38/hg38 1p21.3-13.3(chr1:97410602-110670510)x1 GRCh37: Chr1:97876158-111213132 GRCh38: Chr1:97410602-110670510	AGL, AHCYL1, AKNAD1, ALX3, AMIGO1, AMPD2, AMY1A, AMY1B, AMY1C, AMY2A, AMY2B, ATXN7L2, CDC14A, CELSR2, CFAP276, CLCC1, COL11A1, CSF1, CYB561D1, CYMP-AS1, DBT, DPH5, DPH5-DT, DPYD, DPYD-AS2, EEIG2, ELAPOR1, EPS8L3, EXTL2, FNDC7, FRRS1, GNAI3, GNAT2, GPR61, GPR88, GPSM2, GSTM1, GSTM2, GSTM3, GSTM4, GSTM5, HENMT1, KCNA10, KCNA2, KCNA3, KCNC4, KCNC4-DT, LAMTOR5, LAMTOR5-AS1, LINC01307, LINC01349, LINC01397, LINC01661, LINC01676, LINC01677, LINC01708, LINC01709, LINC01776, LINC01930, LOC107457601, LOC110121283, LOC110121285, LOC111556158, LOC112577470, LOC112577471, LOC112577473, LOC112577475, LOC115801437, LOC115801438, LOC120893148, LOC120893149, LOC120893150, LOC120893151, LOC120893152, LOC121725043, LOC121725044, LOC122094881, LOC122094882, LOC122094883, LOC122094884, LOC122094885, LOC122094886, LOC122094887, LOC122094888, LOC122094889, LOC122094890, LOC122094891, LOC122094892, LOC122094893, LOC122094894, LOC122094895, LOC122094896, LOC126805802, LOC126805803, LOC126805804, LOC126805805, LOC126805806, LOC126805807, LOC126805808, LOC126805809, LOC126805810, LOC126805811, LOC126805812, LOC126805813, LOC126805814, LOC126805815, LOC126805816, LOC126805817, LOC126805818, LOC126805819, LOC126805820, LOC126805821, LOC126805822, LOC126805823, LOC126805824, LOC129388566, LOC129388567, LOC129388568, LOC129388569, LOC129388570, LOC129388571, LOC129388572, LOC129388573, LOC129388574, LOC129388575, LOC129388576, LOC129388577, LOC129930997, LOC129930998, LOC129930999, LOC129931000, LOC129931001, LOC129931002, LOC129931003, LOC129931004, LOC129931005, LOC129931006, LOC129931007, LOC129931008, LOC129931009, LOC129931010, LOC129931011, LOC129931012, LOC129931013, LOC129931014, LOC129931015, LOC129931016, LOC129931017, LOC129931018, LOC129931019, LOC129931020, LOC129931021, LOC129931022, LOC129931023, LOC129931024, LOC129931025, LOC129931026, LOC129931027, LOC129931028, LOC129931029, LOC129931030, LOC129931031, LOC129931032, LOC129931033, LOC129931034, LOC129931035, LOC129931036, LOC129931037, LOC129931038, LOC129931039, LOC129931040, LOC129931041, LOC129931042, LOC129931043, LOC129931044, LOC129931045, LOC129931046, LOC129931047, LOC129931048, LOC129931049, LOC129931050, LOC129931051, LOC129931052, LOC129931053, LOC129931054, LOC129931055, LOC129931056, LOC129931057, LOC129931058, LOC129931059, LOC129931060, LOC129931061, LOC129931062, LOC129931063, LOC129931064, LOC129931065, LOC129931066, LOC129931067, LOC129931068, LOC129931069, LOC129931070, LOC129931071, LOC129931072, LOC129931073, LOC129931074, LOC129931075, LOC129931076, LOC129931077, LOC129931078, LOC129931079, LOC129931080, LOC129931081, LOC129931082, LOC129931083, LOC129931084, LOC129931085, LOC129931086, LOC129931087, LOC129931088, LOC129931089, LOC129931090, LOC129931091, LOC129931092, LOC129931093, LOC129931094, LOC129931095, LOC129931096, LOC129931097, LOC129931098, LOC129931099, LOC129931100, LOC129931101, LOC129931102, LOC129931103, LOC129931104, LOC129931105, LOC129931106, LOC129931107, LOC129931108, LOC129931109, LOC129931110, LOC129931111, LOC129931112, LOC129931113, LOC129931114, LOC129931115, LOC129931116, LOC129931117, LOC129931118, LOC129931119, LOC129931120, LOC129931121, LOC129931122, LOC129931123, LOC129931124, LOC129931125, LOC129931126, LOC129931127, LOC129931128, LOC129931129, LOC129931130, LOC129931131, LOC129931132, LOC129931133, LOC129931134, LOC129931135, LOC129931136, LOC129931137, LOC129931138, LOC129931139, LOC129931140, LOC129931141, LOC129931142, LOC129931143, LOC129931144, LOC129931145, LOC129931146, LOC129931147, LOC129931148, LOC129931149, LOC129931150, LRRC39, MFSD14A, MIR137, MIR137HG, MIR197, MIR2682, MIR553, MIR7852, MYBPHL, NBPF4, NBPF6, NTNG1, OLFM3, PALMD, PLPPR4, PLPPR5, PLPPR5-AS1, PRMT6, PROK1, PRPF38B, PSMA5, PSRC1, RBM15, RBM15-AS1, RNPC3, RNPC3-DT, RTCA, RTCA-AS1, S1PR1, S1PR1-DT, SARS1, SASS6, SCARNA2, SLC16A4, SLC25A24, SLC30A7, SLC35A3, SLC6A17, SLC6A17-AS1, SNX7, SORT1, SPATA42, STRIP1, STXBP3, SYPL2, TAF13, TMEM167B, TRMT13, UBL4B, VAV3, VAV3-AS1, VCAM1, WDR47		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 600073.	GRCh38/hg38 1p21.2-13.2(chr1:101618097-111703028)x1 GRCh37: Chr1:102083653-112245650 GRCh38: Chr1:101618097-111703028	ELAPOR1, EPS8L3, FNDC7, GNAI3, GNAT2, GPR61, GPSM2, GSTM1, GSTM2, GSTM3, GSTM4, GSTM5, HENMT1, KCNA10, KCNA2, KCNA3, KCNC4, KCNC4-DT, LAMTOR5, LAMTOR5-AS1, LINC01160, LINC01397, LINC01661, LINC01676, LINC01677, LINC01709, LOC107457601, LOC107985184, LOC110121283, LOC110121285, LOC112577470, LOC112577471, LOC112577473, LOC112577475, LOC112577476, LOC115801437, LOC115801438, LOC120893149, LOC120893150, LOC120893151, LOC120893152, LOC121725043, LOC121725044, LOC122094891, LOC122094892, LOC122094893, LOC122094894, LOC122094895, LOC122094896, LOC122094897, LOC126805812, LOC126805813, LOC126805814, LOC126805815, LOC126805816, LOC126805817, LOC126805818, LOC126805819, LOC126805820, LOC126805821, LOC126805822, LOC126805823, LOC126805824, LOC126805825, LOC126805826, LOC126805827, LOC126805828, LOC126805829, LOC129388569, LOC129388570, LOC129388571, LOC129388572, LOC129388573, LOC129388574, LOC129388575, LOC129388576, LOC129388577, LOC129388578, LOC129931059, LOC129931060, LOC129931061, LOC129931062, LOC129931063, LOC129931064, LOC129931065, LOC129931066, LOC129931067, LOC129931068, LOC129931069, LOC129931070, LOC129931071, LOC129931072, LOC129931073, LOC129931074, LOC129931075, LOC129931076, LOC129931077, LOC129931078, LOC129931079, LOC129931080, LOC129931081, LOC129931082, LOC129931083, LOC129931084, LOC129931085, LOC129931086, LOC129931087, LOC129931088, LOC129931089, LOC129931090, LOC129931091, LOC129931092, LOC129931093, LOC129931094, LOC129931095, LOC129931096, LOC129931097, LOC129931098, LOC129931099, LOC129931100, LOC129931101, LOC129931102, LOC129931103, LOC129931104, LOC129931105, LOC129931106, LOC129931107, LOC129931108, LOC129931109, LOC129931110, LOC129931111, LOC129931112, LOC129931113, LOC129931114, LOC129931115, LOC129931116, LOC129931117, LOC129931118, LOC129931119, LOC129931120, LOC129931121, LOC129931122, LOC129931123, LOC129931124, LOC129931125, LOC129931126, LOC129931127, LOC129931128, LOC129931129, LOC129931130, LOC129931131, LOC129931132, LOC129931133, LOC129931134, LOC129931135, LOC129931136, LOC129931137, LOC129931138, LOC129931139, LOC129931140, LOC129931141, LOC129931142, LOC129931143, LOC129931144, LOC129931145, LOC129931146, LOC129931147, LOC129931148, LOC129931149, LOC129931150, LOC129931151, LOC129931152, LOC129931153, LOC129931154, LOC129931155, LOC129931156, LOC129931157, LOC129931158, LOC129931159, LOC129931160, LOC129931161, LOC129931162, LOC129931163, LOC129931164, LOC129931165, LOC129931166, LOC129931167, LOC129931168, LOC129931169, LOC129931170, LOC129931171, LOC129931172, LOC129931173, LOC129931174, LOC129931175, LOC129931176, LOC129931177, LOC129931178, LOC129931179, LOC129931180, LOC129931181, LOC129931182, LOC129931183, LOC129931184, LOC129931185, LOC129931186, LOC129931187, LOC129931188, LOC129931189, LOC129931190, LOC129931191, LRIF1, MIR197, MIR7852, MYBPHL, NBPF4, NBPF6, NTNG1, OLFM3, OVGP1, PRMT6, PROK1, PRPF38B, PSMA5, PSRC1, RAP1A, RBM15, RBM15-AS1, RNPC3, RNPC3-DT, SARS1, SCARNA2, SLC16A4, SLC25A24, SLC6A17, SLC6A17-AS1, SORT1, SPATA42, STRIP1, STXBP3, SYPL2, TAF13, TMEM167B, TMIGD3, UBL4B, VAV3, VAV3-AS1, WDR47, WDR77, ADORA3, AHCYL1, AKNAD1, ALX3, AMIGO1, AMPD2, AMY1A, AMY1B, AMY1C, AMY2A, AMY2B, ATP5PB, ATXN7L2, C1orf162, CD53, CELSR2, CEPT1, CFAP276, CHI3L2, CHIA, CIMAP3, CLCC1, COL11A1, CSF1, CYB561D1, CYMP-AS1, DENND2D, DRAM2, EEIG2		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 5451384.	NC_000001.11:g.(?_103175204)_(111410059_?)del GRCh38: Chr1:103175204-111410059	AHCYL1, AKNAD1, ALX3, AMIGO1, AMPD2, AMY1A, AMY1B, AMY1C, AMY2A, AMY2B, ATXN7L2, CD53, CELSR2, CEPT1, CFAP276, CHI3L2, CHIA, CIMAP3, CLCC1, CSF1, CYB561D1, CYMP-AS1, DENND2D, DRAM2, EEIG2, ELAPOR1, EPS8L3, FNDC7, GNAI3, GNAT2, GPR61, GPSM2, GSTM1, GSTM2, GSTM3, GSTM4, GSTM5, HENMT1, KCNA10, KCNA2, KCNA3, KCNC4, KCNC4-DT, LAMTOR5, LAMTOR5-AS1, LINC01397, LINC01661, LINC01676, LINC01677, LOC110121283, LOC110121285, LOC112577470, LOC112577471, LOC112577473, LOC112577475, LOC115801437, LOC115801438, LOC120893149, LOC120893150, LOC120893151, LOC120893152, LOC121725043, LOC121725044, LOC122094891, LOC122094892, LOC122094893, LOC122094894, LOC122094895, LOC122094896, LOC122094897, LOC126805815, LOC126805816, LOC126805817, LOC126805818, LOC126805819, LOC126805820, LOC126805821, LOC126805822, LOC126805823, LOC126805824, LOC126805825, LOC126805826, LOC126805827, LOC126805828, LOC126805829, LOC129388569, LOC129388570, LOC129388571, LOC129388572, LOC129388573, LOC129388574, LOC129388575, LOC129388576, LOC129388577, LOC129931060, LOC129931061, LOC129931062, LOC129931063, LOC129931064, LOC129931065, LOC129931066, LOC129931067, LOC129931068, LOC129931069, LOC129931070, LOC129931071, LOC129931072, LOC129931073, LOC129931074, LOC129931075, LOC129931076, LOC129931077, LOC129931078, LOC129931079, LOC129931080, LOC129931081, LOC129931082, LOC129931083, LOC129931084, LOC129931085, LOC129931086, LOC129931087, LOC129931088, LOC129931089, LOC129931090, LOC129931091, LOC129931092, LOC129931093, LOC129931094, LOC129931095, LOC129931096, LOC129931097, LOC129931098, LOC129931099, LOC129931100, LOC129931101, LOC129931102, LOC129931103, LOC129931104, LOC129931105, LOC129931106, LOC129931107, LOC129931108, LOC129931109, LOC129931110, LOC129931111, LOC129931112, LOC129931113, LOC129931114, LOC129931115, LOC129931116, LOC129931117, LOC129931118, LOC129931119, LOC129931120, LOC129931121, LOC129931122, LOC129931123, LOC129931124, LOC129931125, LOC129931126, LOC129931127, LOC129931128, LOC129931129, LOC129931130, LOC129931131, LOC129931132, LOC129931133, LOC129931134, LOC129931135, LOC129931136, LOC129931137, LOC129931138, LOC129931139, LOC129931140, LOC129931141, LOC129931142, LOC129931143, LOC129931144, LOC129931145, LOC129931146, LOC129931147, LOC129931148, LOC129931149, LOC129931150, LOC129931151, LOC129931152, LOC129931153, LOC129931154, LOC129931155, LOC129931156, LOC129931157, LOC129931158, LOC129931159, LOC129931160, LOC129931161, LOC129931162, LOC129931163, LOC129931164, LOC129931165, LOC129931166, LOC129931167, LOC129931168, LOC129931169, LOC129931170, LOC129931171, LOC129931172, LOC129931173, LOC129931174, LOC129931175, LOC129931176, LRIF1, MIR197, MIR7852, MYBPHL, NBPF4, NBPF6, NTNG1, PRMT6, PROK1, PRPF38B, PSMA5, PSRC1, RBM15, RBM15-AS1, RNPC3, RNPC3-DT, SARS1, SCARNA2, SLC16A4, SLC25A24, SLC6A17, SLC6A17-AS1, SORT1, SPATA42, STRIP1, STXBP3, SYPL2, TAF13, TMEM167B, UBL4B, VAV3, VAV3-AS1, WDR47		Autism	Likely pathogenic (Mar 20, 2018)	criteria provided, single submitter
Select item 1548865.	GRCh38/hg38 1p21.1-12(chr1:104325484-119977655)x3 GRCh37: Chr1:104868106-120471049 GRCh38: Chr1:104325484-119977655	LOC129931064, LOC129931065, LOC129931066, LOC129931067, LOC129931068, LOC129931069, LOC129931070, LOC129931071, LOC129931072, LOC129931073, LOC129931074, LOC129931075, LOC129931076, LOC129931077, LOC129931078, LOC129931079, LOC129931080, LOC129931081, LOC129931082, LOC129931083, LOC129931084, LOC129931085, LOC129931086, LOC129931087, LOC129931088, LOC129931089, LOC129931090, LOC129931091, LOC129931092, LOC129931093, LOC129931094, LOC129931095, LOC129931096, LOC129931097, LOC129931098, LOC129931099, LOC129931100, LOC129931101, LOC129931102, LOC129931103, LOC129931104, LOC129931105, LOC129931106, LOC129931107, LOC129931108, LOC129931109, LOC129931110, LOC129931111, LOC129931112, LOC129931113, LOC129931114, LOC129931115, LOC129931116, LOC129931117, LOC129931118, LOC129931119, LOC129931120, LOC129931121, LOC129931122, LOC129931123, LOC129931124, LOC129931125, LOC129931126, LOC129931127, LOC129931128, LOC129931129, LOC129931130, LOC129931131, LOC129931132, LOC129931133, LOC129931134, LOC129931135, LOC129931136, LOC129931137, LOC129931138, LOC129931139, LOC129931140, LOC129931141, LOC129931142, LOC129931143, LOC129931144, LOC129931145, LOC129931146, LOC129931147, LOC129931148, LOC129931149, LOC129931150, LOC129931151, LOC129931152, LOC129931153, LOC129931154, LOC129931155, LOC129931156, LOC129931157, LOC129931158, LOC129931159, LOC129931160, LOC129931161, LOC129931162, LOC129931163, LOC129931164, LOC129931165, LOC129931166, LOC129931167, LOC129931168, LOC129931169, LOC129931170, LOC129931171, LOC129931172, LOC129931173, LOC129931174, LOC129931175, LOC129931176, LOC129931177, LOC129931178, LOC129931179, LOC129931180, LOC129931181, LOC129931182, LOC129931183, LOC129931184, LOC129931185, LOC129931186, LOC129931187, LOC129931188, LOC129931189, LOC129931190, LOC129931191, LOC129931192, LOC129931193, LOC129931194, LOC129931195, LOC129931196, LOC129931197, LOC129931198, LOC129931199, LOC129931200, LOC129931201, LOC129931202, LOC129931203, LOC129931204, LOC129931205, LOC129931206, LOC129931207, LOC129931208, LOC129931209, LOC129931210, LOC129931211, LOC129931212, LOC129931213, LOC129931214, LOC129931215, LOC129931216, LOC129931217, LOC129931218, LOC129931219, LOC129931220, LOC129931221, LOC129931222, LOC129931223, LOC129931224, LOC129931225, LOC129931226, LOC129931227, LOC129931228, LOC129931229, LOC129931230, LOC129931231, LOC129931232, LOC129931233, LOC129931234, LOC129931235, LOC129931236, LOC129931237, LOC129931238, LOC129931239, LOC129931240, LOC129931241, LOC129931242, LOC129931243, LOC129931244, LOC129931245, LOC129931246, LOC129931247, LOC129931248, LOC129931249, LOC129931250, LOC129931251, LOC129931252, LOC129931253, LOC129931254, LOC129931255, LOC129931256, LOC129931257, LOC129931258, LOC129931259, LOC129931260, LOC129931261, LOC129931262, LOC129931263, LOC129931264, LOC129931265, LOC129931266, LOC129931267, LOC129931268, LOC129931269, LOC129931270, LOC129931271, LOC129931272, LOC129931273, LOC129931274, LOC129931275, LOC129931276, LOC129931277, LOC129931278, LOC129931279, LOC129931280, LOC129931281, LOC129931282, LOC129931283, LOC129931284, LOC129931285, LOC129931286, LOC129931287, LOC129931288, LOC129931289, LOC129931290, LOC129931291, LOC129931292, LOC129931293, LOC129931294, LOC129931295, LOC129931296, LOC129931297, LOC129931298, LOC129931299, LOC129931300, LOC129931301, LOC129931302, LOC129931303, LOC129931304, LOC129931305, LOC129931306, LOC129931307, LOC129931308, LOC132090666, LOC643441, LRIF1, LRIG2, LRIG2-DT, MAB21L3, MAGI3, MAN1A2, MIR11399, MIR197, MIR320B1, MIR4256, MIR548AC, MIR7852, MIR942, MOV10, MYBPHL, NBPF4, NBPF6, NGF, NGF-AS1, NHLH2, NOTCH2, NRAS, NTNG1, OLFML3, OVGP1, PHGDH, PHTF1, PPM1J, PPM1J-DT, PRMT6, PROK1, PRPF38B, PSMA5, PSRC1, PTGFRN, PTPN22, RAP1A, RBM15, RBM15-AS1, REG4, RHOC, RSBN1, SARS1, SCARNA2, SIKE1, SLC16A1, SLC16A1-AS1, SLC16A4, SLC22A15, SLC25A24, SLC6A17, SLC6A17-AS1, SORT1, SPAG17, SPATA42, ST7L, STRIP1, STXBP3, SYCP1, SYPL2, SYT6, TAF13, TAFA3, TBX15, TENT5C, TENT5C-DT, TMEM167B, TMIGD3, TRIM33, TRIM45, TSHB, TSPAN2, TTF2, UBL4B, VANGL1, VAV3, VAV3-AS1, VTCN1, WARS2, WARS2-AS1, WARS2-IT1, WDR3, WDR47, WDR77, WNT2B, ZNF697, ADAM30, ADORA3, AHCYL1, AKNAD1, ALX3, AMIGO1, AMPD1, AMPD2, AP4B1, AP4B1-AS1, ATP1A1, ATP1A1-AS1, ATP5PB, ATXN7L2, BCAS2, BCL2L15, C1orf162, CAPZA1, CASQ2, CD101, CD101-AS1, CD2, CD2-LCR, CD53, CD58, CELSR2, CEPT1, CFAP276, CHI3L2, CHIA, CIMAP3, CLCC1, CSDE1, CSF1, CTTNBP2NL, CYB561D1, CYMP-AS1, DCLRE1B, DDX20, DENND2C, DENND2D, DRAM2, EEIG2, ELAPOR1, EPS8L3, FNDC7, GDAP2, GNAI3, GNAT2, GPR61, GPSM2, GSTM1, GSTM2, GSTM3, GSTM4, GSTM5, HAO2, HAO2-IT1, HENMT1, HIPK1, HIPK1-AS1, HMGCS2, HSD3B1, HSD3B2, IGSF3, INKA2, INKA2-AS1, KCNA10, KCNA2, KCNA3, KCNC4, KCNC4-DT, KCND3, KCND3-AS1, KCND3-IT1, LAMTOR5, LAMTOR5-AS1, LINC00622, LINC01160, LINC01356, LINC01357, LINC01397, LINC01525, LINC01649, LINC01661, LINC01676, LINC01677, LINC01750, LINC01762, LINC01780, LINC02868, LINC02884, LOC101928718, LOC101928977, LOC105378933, LOC107161156, LOC107985184, LOC109029529, LOC109029530, LOC110121098, LOC110121184, LOC110121283, LOC110121285, LOC111365211, LOC111413047, LOC111721703, LOC111776218, LOC112577470, LOC112577471, LOC112577473, LOC112577475, LOC112577476, LOC112577477, LOC112577478, LOC112577479, LOC112577480, LOC112577481, LOC112577483, LOC112577484, LOC112577485, LOC113939977, LOC113939978, LOC115801437, LOC115801438, LOC115801439, LOC115801440, LOC115801441, LOC120893149, LOC120893150, LOC120893151, LOC120893152, LOC120893153, LOC120893154, LOC120893155, LOC120893156, LOC120893157, LOC121725043, LOC121725044, LOC121725045, LOC121725046, LOC121725047, LOC121725048, LOC121725049, LOC121725050, LOC122094891, LOC122094892, LOC122094893, LOC122094894, LOC122094895, LOC122094896, LOC122094897, LOC122094898, LOC122094899, LOC122094900, LOC122094901, LOC122094902, LOC122094903, LOC122094904, LOC122094905, LOC122094906, LOC122094907, LOC122094908, LOC122094909, LOC122094910, LOC122094911, LOC126805815, LOC126805816, LOC126805817, LOC126805818, LOC126805819, LOC126805820, LOC126805821, LOC126805822, LOC126805823, LOC126805824, LOC126805825, LOC126805826, LOC126805827, LOC126805828, LOC126805829, LOC126805830, LOC126805831, LOC126805832, LOC126805833, LOC126805834, LOC126805835, LOC126805836, LOC126805837, LOC126805838, LOC126805839, LOC126805840, LOC126805841, LOC126805842, LOC126805843, LOC126805844, LOC126805845, LOC126805846, LOC126805847, LOC126805848, LOC129388569, LOC129388570, LOC129388571, LOC129388572, LOC129388573, LOC129388574, LOC129388575, LOC129388576, LOC129388577, LOC129388578, LOC129388579, LOC129388580, LOC129388581, LOC129388582, LOC129388583, LOC129388584, LOC129388585, LOC129388586, LOC129388587, LOC129388588, LOC129388589, LOC129388590, LOC129388591, LOC129388592, LOC129388593, LOC129388594, LOC129388595, LOC129388596, LOC129388597, LOC129388598, LOC129388599, LOC129388600, LOC129931063		See cases	Pathogenic (Aug 13, 2012)	no assertion criteria provided
Select item 1546936.	GRCh38/hg38 1p21.1-13.2(chr1:105468292-112190626)x1 GRCh37: Chr1:106010914-112733248 GRCh38: Chr1:105468292-112190626	ADORA3, AHCYL1, AKNAD1, ALX3, AMIGO1, AMPD2, ATP5PB, ATXN7L2, C1orf162, CD53, CELSR2, CEPT1, CFAP276, CHI3L2, CHIA, CIMAP3, CLCC1, CSF1, CYB561D1, CYMP-AS1, DDX20, DENND2D, DRAM2, EEIG2, ELAPOR1, EPS8L3, FNDC7, GNAI3, GNAT2, GPR61, GPSM2, GSTM1, GSTM2, GSTM3, GSTM4, GSTM5, HENMT1, INKA2, INKA2-AS1, KCNA10, KCNA2, KCNA3, KCNC4, KCNC4-DT, KCND3, KCND3-AS1, KCND3-IT1, LAMTOR5, LAMTOR5-AS1, LINC01160, LINC01397, LINC01661, LINC01676, LINC01677, LINC01750, LOC101928718, LOC107985184, LOC110121283, LOC110121285, LOC112577470, LOC112577471, LOC112577473, LOC112577475, LOC112577476, LOC115801437, LOC115801438, LOC120893149, LOC120893150, LOC120893151, LOC120893152, LOC121725043, LOC121725044, LOC122094891, LOC122094892, LOC122094893, LOC122094894, LOC122094895, LOC122094896, LOC122094897, LOC126805817, LOC126805818, LOC126805819, LOC126805820, LOC126805821, LOC126805822, LOC126805823, LOC126805824, LOC126805825, LOC126805826, LOC126805827, LOC126805828, LOC126805829, LOC129388572, LOC129388573, LOC129388574, LOC129388575, LOC129388576, LOC129388577, LOC129388578, LOC129388579, LOC129388580, LOC129388581, LOC129388582, LOC129931063, LOC129931064, LOC129931065, LOC129931066, LOC129931067, LOC129931068, LOC129931069, LOC129931070, LOC129931071, LOC129931072, LOC129931073, LOC129931074, LOC129931075, LOC129931076, LOC129931077, LOC129931078, LOC129931079, LOC129931080, LOC129931081, LOC129931082, LOC129931083, LOC129931084, LOC129931085, LOC129931086, LOC129931087, LOC129931088, LOC129931089, LOC129931090, LOC129931091, LOC129931092, LOC129931093, LOC129931094, LOC129931095, LOC129931096, LOC129931097, LOC129931098, LOC129931099, LOC129931100, LOC129931101, LOC129931102, LOC129931103, LOC129931104, LOC129931105, LOC129931106, LOC129931107, LOC129931108, LOC129931109, LOC129931110, LOC129931111, LOC129931112, LOC129931113, LOC129931114, LOC129931115, LOC129931116, LOC129931117, LOC129931118, LOC129931119, LOC129931120, LOC129931121, LOC129931122, LOC129931123, LOC129931124, LOC129931125, LOC129931126, LOC129931127, LOC129931128, LOC129931129, LOC129931130, LOC129931131, LOC129931132, LOC129931133, LOC129931134, LOC129931135, LOC129931136, LOC129931137, LOC129931138, LOC129931139, LOC129931140, LOC129931141, LOC129931142, LOC129931143, LOC129931144, LOC129931145, LOC129931146, LOC129931147, LOC129931148, LOC129931149, LOC129931150, LOC129931151, LOC129931152, LOC129931153, LOC129931154, LOC129931155, LOC129931156, LOC129931157, LOC129931158, LOC129931159, LOC129931160, LOC129931161, LOC129931162, LOC129931163, LOC129931164, LOC129931165, LOC129931166, LOC129931167, LOC129931168, LOC129931169, LOC129931170, LOC129931171, LOC129931172, LOC129931173, LOC129931174, LOC129931175, LOC129931176, LOC129931177, LOC129931178, LOC129931179, LOC129931180, LOC129931181, LOC129931182, LOC129931183, LOC129931184, LOC129931185, LOC129931186, LOC129931187, LOC129931188, LOC129931189, LOC129931190, LOC129931191, LOC129931192, LOC129931193, LOC129931194, LOC129931195, LOC129931196, LOC129931197, LOC129931198, LOC129931199, LOC129931200, LRIF1, MIR197, MIR7852, MYBPHL, NBPF4, NBPF6, NTNG1, OVGP1, PRMT6, PROK1, PRPF38B, PSMA5, PSRC1, RAP1A, RBM15, RBM15-AS1, SARS1, SCARNA2, SLC16A4, SLC25A24, SLC6A17, SLC6A17-AS1, SORT1, SPATA42, STRIP1, STXBP3, SYPL2, TAF13, TMEM167B, TMIGD3, UBL4B, VAV3, VAV3-AS1, WDR47, WDR77		See cases	Pathogenic (Dec 22, 2010)	no assertion criteria provided
Select item 600097.	GRCh38/hg38 1p21.1-13.3(chr1:106074587-110144290)x1 GRCh37: Chr1:106617209-110686912 GRCh38: Chr1:106074587-110144290	AHCYL1, AKNAD1, ALX3, AMIGO1, AMPD2, ATXN7L2, CELSR2, CFAP276, CLCC1, CSF1, CYB561D1, EEIG2, ELAPOR1, EPS8L3, FNDC7, GNAI3, GNAT2, GPR61, GPSM2, GSTM1, GSTM2, GSTM3, GSTM4, GSTM5, HENMT1, LINC01397, LINC01661, LOC110121283, LOC110121285, LOC112577470, LOC112577471, LOC112577473, LOC115801437, LOC115801438, LOC120893149, LOC120893150, LOC120893151, LOC120893152, LOC121725043, LOC122094891, LOC122094892, LOC122094893, LOC122094894, LOC122094895, LOC126805818, LOC126805819, LOC126805820, LOC126805821, LOC126805822, LOC126805823, LOC126805824, LOC129388572, LOC129388573, LOC129388574, LOC129388575, LOC129388576, LOC129388577, LOC129931063, LOC129931064, LOC129931065, LOC129931066, LOC129931067, LOC129931068, LOC129931069, LOC129931070, LOC129931071, LOC129931072, LOC129931073, LOC129931074, LOC129931075, LOC129931076, LOC129931077, LOC129931078, LOC129931079, LOC129931080, LOC129931081, LOC129931082, LOC129931083, LOC129931084, LOC129931085, LOC129931086, LOC129931087, LOC129931088, LOC129931089, LOC129931090, LOC129931091, LOC129931092, LOC129931093, LOC129931094, LOC129931095, LOC129931096, LOC129931097, LOC129931098, LOC129931099, LOC129931100, LOC129931101, LOC129931102, LOC129931103, LOC129931104, LOC129931105, LOC129931106, LOC129931107, LOC129931108, LOC129931109, LOC129931110, LOC129931111, LOC129931112, LOC129931113, LOC129931114, LOC129931115, LOC129931116, LOC129931117, LOC129931118, LOC129931119, LOC129931120, LOC129931121, LOC129931122, LOC129931123, LOC129931124, LOC129931125, LOC129931126, LOC129931127, LOC129931128, LOC129931129, LOC129931130, LOC129931131, MIR197, MIR7852, MYBPHL, NBPF4, NBPF6, NTNG1, PRMT6, PRPF38B, PSMA5, PSRC1, SARS1, SCARNA2, SLC25A24, SORT1, SPATA42, STRIP1, STXBP3, SYPL2, TAF13, TMEM167B, UBL4B, VAV3, VAV3-AS1, WDR47		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 1445928.	GRCh38/hg38 1p13.3(chr1:107395369-108383738)x3 GRCh37: Chr1:107937991-108926360 GRCh38: Chr1:107395369-108383738	LOC112577470, LOC120893149, LOC126805819, LOC129931069, LOC129931070, LOC129931071, LOC129931072, LOC129931073, MIR7852, NBPF4, NTNG1, SLC25A24, VAV3, VAV3-AS1		See cases	Uncertain significance (May 30, 2010)	no assertion criteria provided
Select item 12405819.	NM_013386.5(SLC25A24):c.*124T>C GRCh37: Chr1:108679151 GRCh38: Chr1:108136529	SLC25A24		not provided	Benign (May 16, 2021)	criteria provided, single submitter
Select item 253944210.	NM_013386.5(SLC25A24):c.1390G>T (p.Val464Phe) GRCh37: Chr1:108679319 GRCh38: Chr1:108136697	SLC25A24	V464F, V445F	Inborn genetic diseases	Uncertain significance (Apr 20, 2023)	criteria provided, single submitter
Select item 131291011.	NM_013386.5(SLC25A24):c.1385A>G (p.Tyr462Cys) GRCh37: Chr1:108679324 GRCh38: Chr1:108136702	SLC25A24	Y443C, Y462C	not provided	Uncertain significance (Aug 11, 2020)	criteria provided, single submitter
Select item 263157212.	NM_013386.5(SLC25A24):c.1360G>A (p.Val454Met) GRCh37: Chr1:108679349 GRCh38: Chr1:108136727	SLC25A24	V435M, V454M	SLC25A24-related condition	Uncertain significance (Aug 8, 2023)	criteria provided, single submitter
Select item 258529813.	NM_013386.5(SLC25A24):c.1346C>T (p.Pro449Leu) GRCh37: Chr1:108679363 GRCh38: Chr1:108136741	SLC25A24	P430L, P449L	Fontaine progeroid syndrome	Uncertain significance	criteria provided, single submitter
Select item 228701814.	NM_013386.5(SLC25A24):c.1337G>A (p.Gly446Asp) GRCh37: Chr1:108679372 GRCh38: Chr1:108136750	SLC25A24	G427D, G446D	Inborn genetic diseases	Uncertain significance (May 1, 2022)	criteria provided, single submitter
Select item 246025015.	NM_013386.5(SLC25A24):c.1298G>A (p.Arg433Gln) GRCh37: Chr1:108679411 GRCh38: Chr1:108136789	SLC25A24	R414Q, R433Q	Inborn genetic diseases	Uncertain significance (Feb 13, 2023)	criteria provided, single submitter
Select item 219822716.	NM_013386.5(SLC25A24):c.1294C>T (p.Arg432Ter) GRCh37: Chr1:108679415 GRCh38: Chr1:108136793	SLC25A24	R413, R432	not provided	Likely benign (Oct 24, 2022)	criteria provided, single submitter
Select item 148814217.	NM_013386.5(SLC25A24):c.1286G>A (p.Gly429Asp) GRCh37: Chr1:108679423 GRCh38: Chr1:108136801	SLC25A24	G410D, G429D	not provided	Uncertain significance (Jul 5, 2022)	criteria provided, single submitter
Select item 69215618.	NM_013386.5(SLC25A24):c.1273C>A (p.Leu425Met) GRCh37: Chr1:108679436 GRCh38: Chr1:108136814	SLC25A24	L406M, L425M	Dementia, Bilateral tonic-clonic seizure	Uncertain significance (Sep 6, 2019)	criteria provided, single submitter
Select item 151149919.	NM_013386.5(SLC25A24):c.1250-1G>A GRCh37: Chr1:108679460 GRCh38: Chr1:108136838	SLC25A24		not provided	Uncertain significance (Oct 28, 2021)	criteria provided, single submitter
Select item 101352120.	NM_013386.5(SLC25A24):c.1250-3T>C GRCh37: Chr1:108679462 GRCh38: Chr1:108136840	SLC25A24		not provided	Likely benign (Dec 1, 2020)	criteria provided, single submitter
Select item 206398021.	NM_013386.5(SLC25A24):c.1250-10dup GRCh37: Chr1:108679468-108679469 GRCh38: Chr1:108136846-108136847	SLC25A24		not provided	Benign (Apr 7, 2022)	criteria provided, single submitter
Select item 128713722.	NM_013386.5(SLC25A24):c.1250-73G>A GRCh37: Chr1:108679532 GRCh38: Chr1:108136910	SLC25A24		not provided	Benign (May 16, 2021)	criteria provided, single submitter
Select item 125221223.	NM_013386.5(SLC25A24):c.1249+198C>A GRCh37: Chr1:108681482 GRCh38: Chr1:108138860	SLC25A24		not provided	Benign (May 16, 2021)	criteria provided, single submitter
Select item 127668624.	NM_013386.5(SLC25A24):c.1249+80A>G GRCh37: Chr1:108681600 GRCh38: Chr1:108138978	SLC25A24		not provided	Benign (May 16, 2021)	criteria provided, single submitter
Select item 203300925.	NM_013386.5(SLC25A24):c.1229G>A (p.Arg410Lys) GRCh37: Chr1:108681700 GRCh38: Chr1:108139078	SLC25A24	R391K, R410K	not provided	Uncertain significance (Sep 27, 2022)	criteria provided, single submitter
Select item 198602626.	NM_013386.5(SLC25A24):c.1211A>T (p.Tyr404Phe) GRCh37: Chr1:108681718 GRCh38: Chr1:108139096	SLC25A24	Y385F, Y404F	not provided	Uncertain significance (May 4, 2022)	criteria provided, single submitter
Select item 235180327.	NM_013386.5(SLC25A24):c.1134A>C (p.Lys378Asn) GRCh37: Chr1:108681795 GRCh38: Chr1:108139173	SLC25A24	K359N, K378N	Inborn genetic diseases	Uncertain significance (Sep 28, 2022)	criteria provided, single submitter
Select item 229703828.	NM_013386.5(SLC25A24):c.1124A>C (p.Asn375Thr) GRCh37: Chr1:108681805 GRCh38: Chr1:108139183	SLC25A24	N356T, N375T	Inborn genetic diseases	Uncertain significance (Jun 24, 2022)	criteria provided, single submitter
Select item 75404129.	NM_013386.5(SLC25A24):c.1104dup (p.Lys369fs) GRCh37: Chr1:108681824-108681825 GRCh38: Chr1:108139202-108139203	SLC25A24	K369fs, K350fs	not provided	Likely benign (Sep 29, 2018)	criteria provided, single submitter
Select item 131223130.	NM_013386.5(SLC25A24):c.1103T>C (p.Leu368Ser) GRCh37: Chr1:108681826 GRCh38: Chr1:108139204	SLC25A24	L349S, L368S	not provided	Uncertain significance (Sep 17, 2019)	criteria provided, single submitter
Select item 128910431.	NM_013386.5(SLC25A24):c.1099-114C>T GRCh37: Chr1:108681944 GRCh38: Chr1:108139322	SLC25A24		not provided	Benign (May 14, 2021)	criteria provided, single submitter
Select item 128221932.	NM_013386.5(SLC25A24):c.1099-192T>C GRCh37: Chr1:108682022 GRCh38: Chr1:108139400	SLC25A24		not provided	Benign (May 14, 2021)	criteria provided, single submitter
Select item 263896133.	NM_013386.5(SLC25A24):c.1076G>T (p.Gly359Val) GRCh37: Chr1:108686187 GRCh38: Chr1:108143565	SLC25A24	G340V, G359V	not provided	Uncertain significance (Mar 1, 2022)	criteria provided, single submitter
Select item 217902334.	NM_013386.5(SLC25A24):c.1072G>A (p.Ala358Thr) GRCh37: Chr1:108686191 GRCh38: Chr1:108143569	SLC25A24	A358T, A339T	not provided	Uncertain significance (Oct 19, 2021)	criteria provided, single submitter
Select item 215995835.	NM_013386.5(SLC25A24):c.1022G>A (p.Gly341Glu) GRCh37: Chr1:108686241 GRCh38: Chr1:108143619	SLC25A24	G322E, G341E	not provided	Uncertain significance (Aug 10, 2022)	criteria provided, single submitter
Select item 73714136.	NM_013386.4(SLC25A24):c.931delG GRCh37: Chr1:108686332 GRCh38: Chr1:108143710	SLC25A24		not provided	Likely benign (Mar 29, 2018)	criteria provided, single submitter
Select item 206951437.	NM_013386.5(SLC25A24):c.931-9dup GRCh37: Chr1:108686340-108686341 GRCh38: Chr1:108143718-108143719	SLC25A24		not provided	Likely benign (Feb 18, 2022)	criteria provided, single submitter
Select item 71242138.	NM_013386.5(SLC25A24):c.925A>G (p.Met309Val) GRCh37: Chr1:108690906 GRCh38: Chr1:108148284	SLC25A24	M290V, M309V	not provided	Likely benign (Apr 7, 2018)	criteria provided, single submitter
Select item 147337539.	NM_013386.5(SLC25A24):c.918A>G (p.Ile306Met) GRCh37: Chr1:108690913 GRCh38: Chr1:108148291	SLC25A24	I287M, I306M	not provided	Benign (Jun 28, 2022)	criteria provided, single submitter
Select item 233433540.	NM_013386.5(SLC25A24):c.889A>G (p.Met297Val) GRCh37: Chr1:108690942 GRCh38: Chr1:108148320	SLC25A24	M297V, M278V	Inborn genetic diseases	Uncertain significance (Dec 13, 2022)	criteria provided, single submitter
Select item 226957441.	NM_013386.5(SLC25A24):c.887C>G (p.Ser296Cys) GRCh37: Chr1:108690944 GRCh38: Chr1:108148322	SLC25A24	S277C, S296C	Inborn genetic diseases	Uncertain significance (Jan 4, 2022)	criteria provided, single submitter
Select item 130598542.	NM_013386.5(SLC25A24):c.869A>G (p.Glu290Gly) GRCh37: Chr1:108690962 GRCh38: Chr1:108148340	SLC25A24	E271G, E290G	not provided	Uncertain significance (Jun 10, 2019)	criteria provided, single submitter
Select item 131070643.	NM_013386.5(SLC25A24):c.848dup (p.Gln284fs) GRCh37: Chr1:108690982-108690983 GRCh38: Chr1:108148360-108148361	SLC25A24	Q265fs, Q284fs	not provided	Uncertain significance (Nov 22, 2019)	criteria provided, single submitter
Select item 167500244.	NM_013386.5(SLC25A24):c.842AAG[1] (p.Glu282del) GRCh37: Chr1:108690984-108690986 GRCh38: Chr1:108148362-108148364	SLC25A24	E263del, E282del	not provided	Likely benign (Jul 5, 2022)	criteria provided, single submitter
Select item 189978745.	NM_013386.5(SLC25A24):c.823-18del GRCh37: Chr1:108691026 GRCh38: Chr1:108148404	SLC25A24		not provided	Benign (Jul 5, 2022)	criteria provided, single submitter
Select item 103257846.	NM_013386.5(SLC25A24):c.812_822+1del GRCh37: Chr1:108697604-108697615 GRCh38: Chr1:108154982-108154993	SLC25A24		Fontaine progeroid syndrome	Uncertain significance (Apr 26, 2018)	criteria provided, single submitter
Select item 195135647.	NM_013386.5(SLC25A24):c.813A>G (p.Ala271=) GRCh37: Chr1:108697614 GRCh38: Chr1:108154992	SLC25A24		not provided	Likely benign (Sep 1, 2022)	criteria provided, single submitter
Select item 69215548.	NM_013386.5(SLC25A24):c.758G>C (p.Gly253Ala) GRCh37: Chr1:108697669 GRCh38: Chr1:108155047	SLC25A24	G234A, G253A	Dementia, Bilateral tonic-clonic seizure	Likely pathogenic (Sep 6, 2019)	criteria provided, single submitter
Select item 117574149.	NM_013386.5(SLC25A24):c.742C>T (p.Arg248Cys) GRCh37: Chr1:108697685 GRCh38: Chr1:108155063	SLC25A24	R229C, R248C	not provided, Inborn genetic diseases	Uncertain significance (Dec 6, 2021)	criteria provided, multiple submitters, no conflicts
Select item 128767050.	NM_013386.5(SLC25A24):c.670-88G>C GRCh37: Chr1:108697845 GRCh38: Chr1:108155223	SLC25A24		not provided	Benign (May 14, 2021)	criteria provided, single submitter
Select item 126174451.	NM_013386.5(SLC25A24):c.670-143T>C GRCh37: Chr1:108697900 GRCh38: Chr1:108155278	SLC25A24		not provided	Benign (May 14, 2021)	criteria provided, single submitter
Select item 190871352.	NM_013386.5(SLC25A24):c.657A>G (p.Lys219=) GRCh37: Chr1:108700096 GRCh38: Chr1:108157474	SLC25A24		not provided	Benign (Aug 16, 2022)	criteria provided, single submitter
Select item 37003253.	NM_013386.5(SLC25A24):c.650G>A (p.Arg217His) GRCh37: Chr1:108700103 GRCh38: Chr1:108157481	SLC25A24	R198H, R217H	Fontaine progeroid syndrome, not provided	Pathogenic (Jan 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 36998054.	NM_013386.5(SLC25A24):c.649C>T (p.Arg217Cys) GRCh37: Chr1:108700104 GRCh38: Chr1:108157482	SLC25A24	R198C, R217C	Fontaine progeroid syndrome	Pathogenic (May 15, 2023)	criteria provided, multiple submitters, no conflicts
Select item 218515655.	NM_013386.5(SLC25A24):c.625C>T (p.Arg209Ter) GRCh37: Chr1:108700128 GRCh38: Chr1:108157506	SLC25A24	R190, R209	not provided	Likely benign (Mar 22, 2022)	criteria provided, single submitter
Select item 240848756.	NM_013386.5(SLC25A24):c.613G>C (p.Gly205Arg) GRCh37: Chr1:108700140 GRCh38: Chr1:108157518	SLC25A24	G186R, G205R	Inborn genetic diseases	Uncertain significance (Oct 29, 2021)	criteria provided, single submitter
Select item 138663257.	NM_013386.5(SLC25A24):c.613G>A (p.Gly205Ser) GRCh37: Chr1:108700140 GRCh38: Chr1:108157518	SLC25A24	G186S, G205S	not provided	Likely benign (Jan 13, 2022)	criteria provided, single submitter
Select item 198629358.	NM_013386.5(SLC25A24):c.574G>A (p.Gly192Arg) GRCh37: Chr1:108700179 GRCh38: Chr1:108157557	SLC25A24	G192R, G173R	not provided	Uncertain significance (Jul 18, 2022)	criteria provided, single submitter
Select item 127375959.	NM_013386.5(SLC25A24):c.511-74C>G GRCh37: Chr1:108700316 GRCh38: Chr1:108157694	SLC25A24		not provided	Benign (May 16, 2021)	criteria provided, single submitter
Select item 266300060.	NM_013386.5(SLC25A24):c.484A>G (p.Ile162Val) GRCh37: Chr1:108703830 GRCh38: Chr1:108161208	SLC25A24	I143V, I162V	not provided	Uncertain significance (Apr 17, 2023)	criteria provided, single submitter
Select item 125370761.	NM_013386.5(SLC25A24):c.480G>A (p.Glu160=) GRCh37: Chr1:108703834 GRCh38: Chr1:108161212	SLC25A24		not provided	Benign (Oct 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 260964462.	NM_013386.5(SLC25A24):c.429C>A (p.Asp143Glu) GRCh37: Chr1:108703885 GRCh38: Chr1:108161263	SLC25A24	D143E, D124E	Inborn genetic diseases	Uncertain significance (Jul 5, 2023)	criteria provided, single submitter
Select item 168365563.	NM_013386.5(SLC25A24):c.424G>A (p.Val142Met) GRCh37: Chr1:108703890 GRCh38: Chr1:108161268	SLC25A24	V123M, V142M	Fontaine progeroid syndrome	Uncertain significance (Mar 24, 2021)	criteria provided, single submitter
Select item 196700864.	NM_013386.5(SLC25A24):c.399-18A>G GRCh37: Chr1:108703933 GRCh38: Chr1:108161311	SLC25A24		not provided	Likely benign (Jan 2, 2022)	criteria provided, single submitter
Select item 124608065.	NM_013386.5(SLC25A24):c.398+45T>C GRCh37: Chr1:108724518 GRCh38: Chr1:108181896	SLC25A24		Fontaine progeroid syndrome, not provided	Benign (Jul 15, 2021)	criteria provided, multiple submitters, no conflicts
Select item 198723366.	NM_013386.5(SLC25A24):c.398+11C>T GRCh37: Chr1:108724552 GRCh38: Chr1:108181930	SLC25A24		not provided	Benign (Oct 3, 2022)	criteria provided, single submitter
Select item 196356267.	NM_013386.5(SLC25A24):c.357T>C (p.Gly119=) GRCh37: Chr1:108724604 GRCh38: Chr1:108181982	SLC25A24		not provided	Likely benign (Apr 7, 2022)	criteria provided, single submitter
Select item 199015368.	NM_013386.5(SLC25A24):c.311-19C>T GRCh37: Chr1:108724669 GRCh38: Chr1:108182047	SLC25A24		not provided	Likely benign (Feb 18, 2022)	criteria provided, single submitter
Select item 194403869.	NM_013386.5(SLC25A24):c.311-20C>T GRCh37: Chr1:108724670 GRCh38: Chr1:108182048	SLC25A24		not provided	Likely benign (Jul 12, 2022)	criteria provided, single submitter
Select item 124459870.	NM_013386.5(SLC25A24):c.311-43C>T GRCh37: Chr1:108724693 GRCh38: Chr1:108182071	SLC25A24		not provided	Benign (May 14, 2021)	criteria provided, single submitter
Select item 122092871.	NM_013386.5(SLC25A24):c.311-116C>T GRCh37: Chr1:108724766 GRCh38: Chr1:108182144	SLC25A24		not provided	Benign (May 14, 2021)	criteria provided, single submitter
Select item 127875372.	NM_013386.5(SLC25A24):c.310+103A>G GRCh37: Chr1:108728347 GRCh38: Chr1:108185725	SLC25A24		not provided	Benign (May 16, 2021)	criteria provided, single submitter
Select item 118106473.	NM_013386.5(SLC25A24):c.276A>G (p.Lys92=) GRCh37: Chr1:108728484 GRCh38: Chr1:108185862	SLC25A24		Fontaine progeroid syndrome, not provided	Benign (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 80617874.	NM_013386.5(SLC25A24):c.260A>G (p.His87Arg) GRCh37: Chr1:108728500 GRCh38: Chr1:108185878	SLC25A24	H68R, H87R	not provided	Uncertain significance (Sep 1, 2018)	criteria provided, single submitter
Select item 259275775.	NM_013386.5(SLC25A24):c.234A>C (p.Glu78Asp) GRCh37: Chr1:108728526 GRCh38: Chr1:108185904	SLC25A24	E59D, E78D	Inborn genetic diseases	Uncertain significance (Jul 30, 2023)	criteria provided, single submitter
Select item 255802876.	NM_013386.5(SLC25A24):c.199G>A (p.Gly67Arg) GRCh37: Chr1:108728561 GRCh38: Chr1:108185939	SLC25A24	G67R, G48R	Inborn genetic diseases	Uncertain significance (Jun 6, 2023)	criteria provided, single submitter
Select item 78685277.	NM_013386.5(SLC25A24):c.198T>A (p.Thr66=) GRCh37: Chr1:108728562 GRCh38: Chr1:108185940	SLC25A24		not provided	Benign (Aug 10, 2022)	criteria provided, single submitter
Select item 125870878.	NM_013386.5(SLC25A24):c.184-6417C>G GRCh37: Chr1:108734993 GRCh38: Chr1:108192371	SLC25A24		not provided	Benign (May 16, 2021)	criteria provided, single submitter
Select item 126787379.	NM_013386.5(SLC25A24):c.184-6636A>G GRCh37: Chr1:108735212 GRCh38: Chr1:108192590	SLC25A24	Y11C	not specified, not provided	Benign (May 25, 2021)	criteria provided, multiple submitters, no conflicts
Select item 124602180.	NM_013386.5(SLC25A24):c.184-6735T>C GRCh37: Chr1:108735311 GRCh38: Chr1:108192689	SLC25A24		not provided	Benign (May 22, 2021)	criteria provided, single submitter
Select item 125046081.	NM_013386.5(SLC25A24):c.184-6807G>A GRCh37: Chr1:108735383 GRCh38: Chr1:108192761	SLC25A24		not provided	Benign (May 16, 2021)	criteria provided, single submitter
Select item 123356082.	NM_013386.5(SLC25A24):c.184-6812A>T GRCh37: Chr1:108735388 GRCh38: Chr1:108192766	SLC25A24		not provided	Benign (May 16, 2021)	criteria provided, single submitter
Select item 125191183.	NM_013386.5(SLC25A24):c.184-6999A>G GRCh37: Chr1:108735575 GRCh38: Chr1:108192953	SLC25A24		not provided	Benign (May 23, 2021)	criteria provided, single submitter
Select item 190776584.	NM_013386.5(SLC25A24):c.183+7C>T GRCh37: Chr1:108742571 GRCh38: Chr1:108199949	SLC25A24		not provided	Benign (Feb 18, 2022)	criteria provided, single submitter
Select item 154105685.	NM_013386.5(SLC25A24):c.174C>T (p.Asp58=) GRCh37: Chr1:108742587 GRCh38: Chr1:108199965	SLC25A24		not provided	Likely benign (Aug 31, 2021)	criteria provided, single submitter
Select item 127854886.	NM_013386.5(SLC25A24):c.129G>A (p.Glu43=) GRCh37: Chr1:108742632 GRCh38: Chr1:108200010	SLC25A24		not provided	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 238576587.	NM_013386.5(SLC25A24):c.101A>G (p.Asn34Ser) GRCh37: Chr1:108742660 GRCh38: Chr1:108200038	SLC25A24	N34S	Inborn genetic diseases	Uncertain significance (Jul 8, 2022)	criteria provided, single submitter
Select item 238874988.	NM_013386.5(SLC25A24):c.65C>A (p.Thr22Lys) GRCh37: Chr1:108742696 GRCh38: Chr1:108200074	SLC25A24	T22K	Inborn genetic diseases	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 211947289.	NM_013386.5(SLC25A24):c.46C>T (p.Gln16Ter) GRCh37: Chr1:108742715 GRCh38: Chr1:108200093	SLC25A24	Q16*	not provided	Uncertain significance (Apr 1, 2022)	criteria provided, single submitter
Select item 190893590.	NM_013386.5(SLC25A24):c.28C>T (p.Leu10=) GRCh37: Chr1:108742733 GRCh38: Chr1:108200111	SLC25A24		not provided	Likely benign (Aug 17, 2022)	criteria provided, single submitter
Select item 243599691.	NM_013386.5(SLC25A24):c.1A>C (p.Met1Leu) GRCh37: Chr1:108742760 GRCh38: Chr1:108200138	LOC112577470, SLC25A24	M1L	Fontaine progeroid syndrome	Uncertain significance (Jun 19, 2022)	criteria provided, single submitter
Select item 117994792.	NM_013386.5(SLC25A24):c.-132A>C GRCh37: Chr1:108742892 GRCh38: Chr1:108200270	LOC112577470, SLC25A24		not provided	Benign (May 16, 2021)	criteria provided, single submitter
Select item 123057593.	NM_013386.5(SLC25A24):c.-165CCTGCGC[2] GRCh37: Chr1:108742905-108742911 GRCh38: Chr1:108200283-108200289	LOC112577470, SLC25A24		not provided	Benign (May 16, 2021)	criteria provided, single submitter
Select item 125985894.	NM_013386.5(SLC25A24):c.-192C>A GRCh37: Chr1:108742952 GRCh38: Chr1:108200330	LOC112577470, SLC25A24		not provided	Benign (May 14, 2021)	criteria provided, single submitter
Select item 128843495.	NM_013386.5(SLC25A24):c.-194T>G GRCh37: Chr1:108742954 GRCh38: Chr1:108200332	LOC112577470, SLC25A24		not provided	Benign (May 16, 2021)	criteria provided, single submitter
Select item 126465996.	NC_000001.11:g.108200420C>A GRCh37: Chr1:108743042 GRCh38: Chr1:108200420	LOC112577470, SLC25A24		not provided	Benign (May 16, 2021)	criteria provided, single submitter
Select item 122068397.	NC_000001.11:g.108200437G>C GRCh37: Chr1:108743059 GRCh38: Chr1:108200437	SLC25A24, LOC112577470		not provided	Benign (May 14, 2021)	criteria provided, single submitter
Select item 126242298.	NC_000001.11:g.108200518C>G GRCh37: Chr1:108743140 GRCh38: Chr1:108200518	LOC112577470, SLC25A24		not provided	Benign (May 16, 2021)	criteria provided, single submitter
Select item 124094499.	NC_000001.11:g.108200556C>G GRCh37: Chr1:108743178 GRCh38: Chr1:108200556	LOC112577470, SLC25A24		not provided	Benign (May 16, 2021)	criteria provided, single submitter
Select item 2425864100.	NC_000001.10:g.(?_108724543)_(108742760_?)del GRCh37: Chr1:108724543-108742760	SLC25A24		not provided	Uncertain significance (Mar 12, 2022)	criteria provided, single submitter

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