149461[geneid] - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 599661.	GRCh38/hg38 1p34.2-34.1(chr1:40462415-44668040)x1 GRCh37: Chr1:40928087-45133712 GRCh38: Chr1:40462415-44668040	ARTN, ATP6V0B, B4GALT2, C1orf210, C1orf50, CCDC24, CCDC30, CDC20, CDC20-DT, CFAP144, CFAP57, CITED4, CLDN19, CTPS1, DMAP1, DPH2, EBNA1BP2, EDN2, ELOVL1, ERI3, ERI3-IT1, ERMAP, EXO5, EXO5-DT, FOXJ3, FOXO6, FOXO6-AS1, GUCA2A, GUCA2B, HIVEP3, HYI, HYI-AS1, IPO13, KCNQ4, KDM4A, KDM4A-AS1, KLF17, KLF18, LOC101929609, LOC110120642, LOC110120644, LOC110121214, LOC111464991, LOC112577599, LOC112590790, LOC112590791, LOC112590792, LOC112590793, LOC112590794, LOC112590795, LOC120893133, LOC121725016, LOC121725017, LOC121725018, LOC121725019, LOC121725020, LOC122056845, LOC122056846, LOC122056847, LOC122056848, LOC122056849, LOC122056850, LOC122056851, LOC122056852, LOC122056853, LOC122056854, LOC126805714, LOC126805715, LOC126805716, LOC126805717, LOC126805718, LOC126805719, LOC126805720, LOC126805721, LOC126805722, LOC126805723, LOC126805724, LOC126805725, LOC126805726, LOC128125817, LOC128900003, LOC128900004, LOC129388502, LOC129388503, LOC129388504, LOC129388505, LOC129930268, LOC129930269, LOC129930270, LOC129930271, LOC129930272, LOC129930273, LOC129930274, LOC129930275, LOC129930276, LOC129930277, LOC129930278, LOC129930279, LOC129930280, LOC129930281, LOC129930282, LOC129930283, LOC129930284, LOC129930285, LOC129930286, LOC129930287, LOC129930288, LOC129930289, LOC129930290, LOC129930291, LOC129930292, LOC129930293, LOC129930294, LOC129930295, LOC129930296, LOC129930297, LOC129930298, LOC129930299, LOC129930300, LOC129930301, LOC129930302, LOC129930303, LOC129930304, LOC129930305, LOC129930306, LOC129930307, LOC129930308, LOC129930309, LOC129930310, LOC129930311, LOC129930312, LOC129930313, LOC129930314, LOC129930315, LOC129930316, LOC129930317, LOC129930318, LOC129930319, LOC129930320, LOC129930321, LOC129930322, LOC129930323, LOC129930324, LOC129930325, LOC129930326, LOC129930327, LOC129930328, LOC129930329, LOC129930330, LOC129930331, LOC129930332, LOC129930333, LOC129930334, LOC129930335, LOC129930336, LOC129930337, LOC129930338, LOC129930339, LOC129930340, LOC129930341, LOC129930342, LOC129930343, LOC129930344, LOC129930345, LOC129930346, LOC129930347, LOC129930348, LOC129930349, LOC129930350, LOC129930351, LOC129930352, LOC129930353, LOC129930354, LOC129930355, LOC129930356, LOC129930357, LOC129930358, LOC129930359, LOC129930360, LOC129930361, LOC129930362, LOC129930363, LOC129930364, LOC129930365, LOC129930366, LOC129930367, LOC129930368, LOC129930369, LOC129930370, LOC129930371, LOC129930372, LOC129930373, LOC129930374, LOC129930375, LOC129930376, LOC129930377, LOC129930378, LOC129930379, LOC129930380, LOC129930381, LOC129930382, LOC129930383, LOC129930384, LOC129930385, LOC129930386, LOC129930387, LOC129930388, LOC129930389, LOC129930390, LOC129930391, LOC129930392, LOC129930393, LOC129930394, LOC129930395, LOC129930396, LOC129930397, LOC129930398, LOC129930399, LOC129930400, LOC129930401, LOC129930402, LOC129930403, LOC129930404, LOC129930405, LOC129930406, LOC129930407, LOC129930408, LOC129930409, LOC129930410, LOC129930411, LOC129930412, LOC129930413, LOC129930414, LOC132088718, LOC132088719, LOC132088721, LOC132088722, LOC339539, MED8, MIR30C1, MIR30E, MIR5584, MIR6079, MIR6733, MIR6734, MIR6735, MPL, NFYC, NFYC-AS1, P3H1, PPCS, PPIH, PTPRF, RIMKLA, RIMS3, RNF220, SCMH1, SCMH1-DT, SLC2A1, SLC2A1-DT, SLC6A9, SLFNL1, SLFNL1-AS1, SNORA110, ST3GAL3, ST3GAL3-AS1, SVBP, SZT2, SZT2-AS1, TIE1, TMEM125, TMEM269, TMEM269-DT, TMEM53, YBX1, ZFP69, ZFP69B, ZMYND12, ZNF684, ZNF691, ZNF691-DT		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 570932.	GRCh38/hg38 1p34.2-34.1(chr1:40693289-44514104)x1 GRCh37: Chr1:41158961-44979776 GRCh38: Chr1:40693289-44514104	ARTN, ATP6V0B, B4GALT2, C1orf210, C1orf50, CCDC24, CCDC30, CDC20, CDC20-DT, CFAP144, CFAP57, CITED4, CLDN19, CTPS1, DMAP1, DPH2, EBNA1BP2, EDN2, ELOVL1, ERI3, ERI3-IT1, ERMAP, FOXJ3, FOXO6, FOXO6-AS1, GUCA2A, GUCA2B, HIVEP3, HYI, HYI-AS1, IPO13, KCNQ4, KDM4A, KDM4A-AS1, KLF17, KLF18, LOC101929609, LOC110120642, LOC110121214, LOC111464991, LOC112590790, LOC112590791, LOC112590792, LOC112590793, LOC112590794, LOC112590795, LOC120893133, LOC121725016, LOC121725017, LOC121725018, LOC121725019, LOC121725020, LOC122056845, LOC122056846, LOC122056847, LOC122056848, LOC122056849, LOC122056850, LOC122056851, LOC122056852, LOC122056853, LOC122056854, LOC126805715, LOC126805716, LOC126805717, LOC126805718, LOC126805719, LOC126805720, LOC126805721, LOC126805722, LOC126805723, LOC126805724, LOC126805725, LOC126805726, LOC128125817, LOC128900003, LOC128900004, LOC129388502, LOC129388503, LOC129388504, LOC129388505, LOC129930278, LOC129930279, LOC129930280, LOC129930281, LOC129930282, LOC129930283, LOC129930284, LOC129930285, LOC129930286, LOC129930287, LOC129930288, LOC129930289, LOC129930290, LOC129930291, LOC129930292, LOC129930293, LOC129930294, LOC129930295, LOC129930296, LOC129930297, LOC129930298, LOC129930299, LOC129930300, LOC129930301, LOC129930302, LOC129930303, LOC129930304, LOC129930305, LOC129930306, LOC129930307, LOC129930308, LOC129930309, LOC129930310, LOC129930311, LOC129930312, LOC129930313, LOC129930314, LOC129930315, LOC129930316, LOC129930317, LOC129930318, LOC129930319, LOC129930320, LOC129930321, LOC129930322, LOC129930323, LOC129930324, LOC129930325, LOC129930326, LOC129930327, LOC129930328, LOC129930329, LOC129930330, LOC129930331, LOC129930332, LOC129930333, LOC129930334, LOC129930335, LOC129930336, LOC129930337, LOC129930338, LOC129930339, LOC129930340, LOC129930341, LOC129930342, LOC129930343, LOC129930344, LOC129930345, LOC129930346, LOC129930347, LOC129930348, LOC129930349, LOC129930350, LOC129930351, LOC129930352, LOC129930353, LOC129930354, LOC129930355, LOC129930356, LOC129930357, LOC129930358, LOC129930359, LOC129930360, LOC129930361, LOC129930362, LOC129930363, LOC129930364, LOC129930365, LOC129930366, LOC129930367, LOC129930368, LOC129930369, LOC129930370, LOC129930371, LOC129930372, LOC129930373, LOC129930374, LOC129930375, LOC129930376, LOC129930377, LOC129930378, LOC129930379, LOC129930380, LOC129930381, LOC129930382, LOC129930383, LOC129930384, LOC129930385, LOC129930386, LOC129930387, LOC129930388, LOC129930389, LOC129930390, LOC129930391, LOC129930392, LOC129930393, LOC129930394, LOC129930395, LOC129930396, LOC129930397, LOC129930398, LOC129930399, LOC129930400, LOC129930401, LOC129930402, LOC129930403, LOC129930404, LOC129930405, LOC129930406, LOC129930407, LOC129930408, LOC129930409, LOC129930410, LOC132088718, LOC132088719, LOC132088721, LOC132088722, LOC339539, MED8, MIR30C1, MIR30E, MIR6079, MIR6733, MIR6734, MIR6735, MPL, NFYC, P3H1, PPCS, PPIH, PTPRF, RIMKLA, RNF220, SCMH1, SCMH1-DT, SLC2A1, SLC2A1-DT, SLC6A9, SLFNL1, SLFNL1-AS1, SNORA110, ST3GAL3, ST3GAL3-AS1, SVBP, SZT2, SZT2-AS1, TIE1, TMEM125, TMEM269, TMEM269-DT, YBX1, ZMYND12, ZNF691, ZNF691-DT		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 1541423.	GRCh38/hg38 1p34.2(chr1:40834404-43123071)x1 GRCh37: Chr1:41300076-43588742 GRCh38: Chr1:40834404-43123071	C1orf50, CCDC30, CITED4, CLDN19, CTPS1, EDN2, ERMAP, FOXJ3, FOXO6, FOXO6-AS1, GUCA2A, GUCA2B, HIVEP3, KCNQ4, LOC112590790, LOC120893133, LOC121725016, LOC121725017, LOC121725018, LOC121725019, LOC121725020, LOC122056845, LOC122056846, LOC122056847, LOC122056848, LOC122056849, LOC122056850, LOC122056851, LOC126805715, LOC126805716, LOC126805717, LOC126805718, LOC128125817, LOC129388502, LOC129388503, LOC129388504, LOC129930284, LOC129930285, LOC129930286, LOC129930287, LOC129930288, LOC129930289, LOC129930290, LOC129930291, LOC129930292, LOC129930293, LOC129930294, LOC129930295, LOC129930296, LOC129930297, LOC129930298, LOC129930299, LOC129930300, LOC129930301, LOC129930302, LOC129930303, LOC129930304, LOC129930305, LOC129930306, LOC129930307, LOC129930308, LOC129930309, LOC129930310, LOC129930311, LOC129930312, LOC129930313, LOC129930314, LOC129930315, LOC129930316, LOC129930317, LOC129930318, LOC129930319, LOC129930320, LOC129930321, LOC129930322, LOC129930323, LOC129930324, LOC129930325, LOC129930326, LOC129930327, LOC129930328, LOC129930329, LOC129930330, LOC129930331, LOC129930332, LOC129930333, LOC129930334, LOC129930335, LOC129930336, LOC129930337, LOC129930338, LOC129930339, LOC129930340, LOC129930341, LOC129930342, LOC129930343, LOC129930344, LOC129930345, LOC129930346, LOC129930347, LOC129930348, LOC129930349, LOC129930350, LOC129930351, LOC129930352, LOC129930353, LOC129930354, LOC129930355, LOC129930356, LOC129930357, LOC129930358, LOC129930359, LOC129930360, LOC129930361, LOC129930362, LOC129930363, LOC129930364, LOC129930365, LOC129930366, LOC129930367, LOC129930368, LOC129930369, LOC129930370, LOC129930371, LOC132088718, LOC132088719, LOC339539, P3H1, PPCS, PPIH, RIMKLA, SCMH1, SCMH1-DT, SLC2A1, SLC2A1-DT, SLFNL1, SLFNL1-AS1, SVBP, TMEM269, TMEM269-DT, YBX1, ZMYND12, ZNF691, ZNF691-DT		See cases	Pathogenic (Mar 10, 2014)	no assertion criteria provided
Select item 1528324.	GRCh38/hg38 1p34.2(chr1:42653385-43093829)x1 GRCh37: Chr1:43119056-43559500 GRCh38: Chr1:42653385-43093829	C1orf50, CCDC30, CLDN19, ERMAP, LOC121725020, LOC122056850, LOC122056851, LOC129388504, LOC129930346, LOC129930347, LOC129930348, LOC129930349, LOC129930350, LOC129930351, LOC129930352, LOC129930353, LOC129930354, LOC129930355, LOC129930356, LOC129930357, LOC129930358, LOC129930359, LOC129930360, LOC129930361, LOC129930362, LOC129930363, LOC129930364, LOC129930365, LOC129930366, LOC129930367, LOC129930368, LOC129930369, LOC129930370, LOC129930371, LOC339539, P3H1, PPIH, SLC2A1, SLC2A1-DT, SVBP, TMEM269, TMEM269-DT, YBX1, ZNF691, ZNF691-DT		See cases	Likely pathogenic (Apr 30, 2011)	no assertion criteria provided
Select item 8744375.	NM_148960.3(CLDN19):c.*1965T>G GRCh37: Chr1:43198792 GRCh38: Chr1:42733121	CLDN19		Renal hypomagnesemia 5 with ocular involvement	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 8744386.	NM_148960.3(CLDN19):c.*1925T>C GRCh37: Chr1:43198832 GRCh38: Chr1:42733161	CLDN19		Renal hypomagnesemia 5 with ocular involvement	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 8744397.	NM_148960.3(CLDN19):c.*1919G>A GRCh37: Chr1:43198838 GRCh38: Chr1:42733167	CLDN19		Renal hypomagnesemia 5 with ocular involvement	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 8744408.	NM_148960.3(CLDN19):c.*1909G>A GRCh37: Chr1:43198848 GRCh38: Chr1:42733177	CLDN19		Renal hypomagnesemia 5 with ocular involvement	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 8744419.	NM_148960.3(CLDN19):c.*1908C>T GRCh37: Chr1:43198849 GRCh38: Chr1:42733178	CLDN19		Renal hypomagnesemia 5 with ocular involvement	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87444210.	NM_148960.3(CLDN19):c.*1829A>G GRCh37: Chr1:43198928 GRCh38: Chr1:42733257	CLDN19		Renal hypomagnesemia 5 with ocular involvement	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87444311.	NM_148960.3(CLDN19):c.*1822C>T GRCh37: Chr1:43198935 GRCh38: Chr1:42733264	CLDN19		Renal hypomagnesemia 5 with ocular involvement	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87444412.	NM_148960.3(CLDN19):c.*1772A>C GRCh37: Chr1:43198985 GRCh38: Chr1:42733314	CLDN19		Renal hypomagnesemia 5 with ocular involvement	Uncertain significance (Jan 15, 2018)	criteria provided, single submitter
Select item 29731513.	NM_148960.3(CLDN19):c.*1760C>T GRCh37: Chr1:43198997 GRCh38: Chr1:42733326	CLDN19		Renal hypomagnesemia 5 with ocular involvement	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 29731614.	NM_148960.3(CLDN19):c.*1733G>A GRCh37: Chr1:43199024 GRCh38: Chr1:42733353	CLDN19		Renal hypomagnesemia 5 with ocular involvement	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 29731715.	NM_148960.3(CLDN19):c.*1698A>G GRCh37: Chr1:43199059 GRCh38: Chr1:42733388	CLDN19		Renal hypomagnesemia 5 with ocular involvement	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 29731816.	NM_148960.3(CLDN19):c.*1642T>C GRCh37: Chr1:43199115 GRCh38: Chr1:42733444	CLDN19		Renal hypomagnesemia 5 with ocular involvement	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 29731917.	NM_148960.3(CLDN19):c.*1621T>C GRCh37: Chr1:43199136 GRCh38: Chr1:42733465	CLDN19		Renal hypomagnesemia 5 with ocular involvement	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 29732018.	NM_148960.3(CLDN19):c.*1483G>T GRCh37: Chr1:43199274 GRCh38: Chr1:42733603	CLDN19		Renal hypomagnesemia 5 with ocular involvement	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 29732119.	NM_148960.3(CLDN19):c.*1428A>G GRCh37: Chr1:43199329 GRCh38: Chr1:42733658	CLDN19		Renal hypomagnesemia 5 with ocular involvement	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87535220.	NM_148960.3(CLDN19):c.*1357C>T GRCh37: Chr1:43199400 GRCh38: Chr1:42733729	CLDN19		Renal hypomagnesemia 5 with ocular involvement	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 29732221.	NM_148960.3(CLDN19):c.*1353G>A GRCh37: Chr1:43199404 GRCh38: Chr1:42733733	CLDN19		Renal hypomagnesemia 5 with ocular involvement	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87541222.	NM_148960.3(CLDN19):c.*1336T>C GRCh37: Chr1:43199421 GRCh38: Chr1:42733750	CLDN19		Renal hypomagnesemia 5 with ocular involvement	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87541323.	NM_148960.3(CLDN19):c.*1327T>C GRCh37: Chr1:43199430 GRCh38: Chr1:42733759	CLDN19		Renal hypomagnesemia 5 with ocular involvement	Benign (Apr 27, 2017)	criteria provided, single submitter
Select item 87541424.	NM_148960.3(CLDN19):c.*1312G>T GRCh37: Chr1:43199445 GRCh38: Chr1:42733774	CLDN19		Renal hypomagnesemia 5 with ocular involvement	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 29732325.	NM_148960.3(CLDN19):c.*1312G>A GRCh37: Chr1:43199445 GRCh38: Chr1:42733774	CLDN19		Renal hypomagnesemia 5 with ocular involvement	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87541526.	NM_148960.3(CLDN19):c.*1172C>T GRCh37: Chr1:43199585 GRCh38: Chr1:42733914	CLDN19		Renal hypomagnesemia 5 with ocular involvement	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 29732427.	NM_148960.3(CLDN19):c.*1073G>A GRCh37: Chr1:43199684 GRCh38: Chr1:42734013	CLDN19		Renal hypomagnesemia 5 with ocular involvement	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87541628.	NM_148960.3(CLDN19):c.*1072C>T GRCh37: Chr1:43199685 GRCh38: Chr1:42734014	CLDN19		Renal hypomagnesemia 5 with ocular involvement	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 29732529.	NM_148960.3(CLDN19):c.*1018G>T GRCh37: Chr1:43199739 GRCh38: Chr1:42734068	CLDN19		Renal hypomagnesemia 5 with ocular involvement	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 87644130.	NM_148960.3(CLDN19):c.*1008C>T GRCh37: Chr1:43199749 GRCh38: Chr1:42734078	CLDN19		Renal hypomagnesemia 5 with ocular involvement	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 29732631.	NM_148960.3(CLDN19):c.*873A>G GRCh37: Chr1:43199884 GRCh38: Chr1:42734213	CLDN19		Renal hypomagnesemia 5 with ocular involvement	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 87644232.	NM_148960.3(CLDN19):c.*867C>G GRCh37: Chr1:43199890 GRCh38: Chr1:42734219	CLDN19		Renal hypomagnesemia 5 with ocular involvement	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 29732733.	NM_148960.3(CLDN19):c.*845C>G GRCh37: Chr1:43199912 GRCh38: Chr1:42734241	CLDN19		Renal hypomagnesemia 5 with ocular involvement	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 87644334.	NM_148960.3(CLDN19):c.*800C>T GRCh37: Chr1:43199957 GRCh38: Chr1:42734286	CLDN19		Renal hypomagnesemia 5 with ocular involvement	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 29732835.	NM_148960.3(CLDN19):c.*735G>C GRCh37: Chr1:43200022 GRCh38: Chr1:42734351	CLDN19		Renal hypomagnesemia 5 with ocular involvement	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87644436.	NM_148960.3(CLDN19):c.*642G>A GRCh37: Chr1:43200115 GRCh38: Chr1:42734444	CLDN19		Renal hypomagnesemia 5 with ocular involvement	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 29732937.	NM_148960.3(CLDN19):c.*639C>T GRCh37: Chr1:43200118 GRCh38: Chr1:42734447	CLDN19		Renal hypomagnesemia 5 with ocular involvement	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87448738.	NM_148960.3(CLDN19):c.*624C>T GRCh37: Chr1:43200133 GRCh38: Chr1:42734462	CLDN19		Renal hypomagnesemia 5 with ocular involvement	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87448839.	NM_148960.3(CLDN19):c.*598G>T GRCh37: Chr1:43200159 GRCh38: Chr1:42734488	CLDN19		Renal hypomagnesemia 5 with ocular involvement	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 29733040.	NM_148960.3(CLDN19):c.*547C>T GRCh37: Chr1:43200210 GRCh38: Chr1:42734539	CLDN19		Renal hypomagnesemia 5 with ocular involvement	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 29733141.	NM_148960.3(CLDN19):c.*536G>A GRCh37: Chr1:43200221 GRCh38: Chr1:42734550	CLDN19		Renal Hypomagnesemia, Recessive	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 29733242.	NM_148960.3(CLDN19):c.*530del GRCh37: Chr1:43200227 GRCh38: Chr1:42734556	CLDN19		Renal Hypomagnesemia, Recessive	Likely benign (Jun 14, 2016)	criteria provided, single submitter
Select item 29733343.	NM_148960.3(CLDN19):c.*523G>A GRCh37: Chr1:43200234 GRCh38: Chr1:42734563	CLDN19		Renal hypomagnesemia 5 with ocular involvement	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87448944.	NM_148960.3(CLDN19):c.*491C>T GRCh37: Chr1:43200266 GRCh38: Chr1:42734595	CLDN19		Renal hypomagnesemia 5 with ocular involvement	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87449045.	NM_148960.3(CLDN19):c.*285C>A GRCh37: Chr1:43200472 GRCh38: Chr1:42734801	CLDN19		Renal hypomagnesemia 5 with ocular involvement	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 29733446.	NM_148960.3(CLDN19):c.*257C>T GRCh37: Chr1:43200500 GRCh38: Chr1:42734829	CLDN19		Renal hypomagnesemia 5 with ocular involvement	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 29733547.	NM_148960.3(CLDN19):c.*231A>G GRCh37: Chr1:43200526 GRCh38: Chr1:42734855	CLDN19		not provided, Renal hypomagnesemia 5 with ocular involvement	Benign (Nov 10, 2018)	criteria provided, multiple submitters, no conflicts
Select item 87454248.	NM_148960.3(CLDN19):c.*177C>A GRCh37: Chr1:43200580 GRCh38: Chr1:42734909	CLDN19		Renal hypomagnesemia 5 with ocular involvement	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 29733649.	NM_148960.3(CLDN19):c.*158G>A GRCh37: Chr1:43200599 GRCh38: Chr1:42734928	CLDN19		not provided, Renal hypomagnesemia 5 with ocular involvement	Benign/Likely benign (Mar 14, 2020)	criteria provided, multiple submitters, no conflicts
Select item 87454350.	NM_148960.3(CLDN19):c.*119C>T GRCh37: Chr1:43200638 GRCh38: Chr1:42734967	CLDN19		Renal hypomagnesemia 5 with ocular involvement	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 29733751.	NM_148960.3(CLDN19):c.*91A>G GRCh37: Chr1:43200666 GRCh38: Chr1:42734995	CLDN19		not provided, Renal hypomagnesemia 5 with ocular involvement	Benign (Sep 1, 2020)	criteria provided, multiple submitters, no conflicts
Select item 87454452.	NM_148960.3(CLDN19):c.*45G>A GRCh37: Chr1:43200712 GRCh38: Chr1:42735041	CLDN19		Renal hypomagnesemia 5 with ocular involvement	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 29733853.	NM_148960.3(CLDN19):c.*19G>A GRCh37: Chr1:43200738 GRCh38: Chr1:42735067	CLDN19		Renal hypomagnesemia 5 with ocular involvement	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 6447854.	NM_148960.3(CLDN19):c.671T>A (p.Val224Glu) GRCh37: Chr1:43200761 GRCh38: Chr1:42735090	CLDN19	V224E	Inborn genetic diseases, Renal hypomagnesemia 5 with ocular involvement	Uncertain significance (Mar 14, 2023)	criteria provided, multiple submitters, no conflicts
Select item 196629155.	NM_148960.3(CLDN19):c.663C>T (p.Pro221=) GRCh37: Chr1:43200769 GRCh38: Chr1:42735098	CLDN19		not provided	Likely benign (Aug 21, 2022)	criteria provided, single submitter
Select item 136785156.	NM_148960.3(CLDN19):c.658G>T (p.Gly220Cys) GRCh37: Chr1:43200774 GRCh38: Chr1:42735103	CLDN19	G220C	Renal hypomagnesemia 5 with ocular involvement, not provided	Uncertain significance (May 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 148209457.	NM_148960.3(CLDN19):c.652G>A (p.Ala218Thr) GRCh37: Chr1:43200780 GRCh38: Chr1:42735109	CLDN19	A218T	not provided, Renal hypomagnesemia 5 with ocular involvement	Uncertain significance (Nov 4, 2021)	criteria provided, multiple submitters, no conflicts
Select item 83643658.	NM_148960.3(CLDN19):c.646G>A (p.Ala216Thr) GRCh37: Chr1:43200786 GRCh38: Chr1:42735115	CLDN19	A216T	not provided, Renal hypomagnesemia 5 with ocular involvement	Uncertain significance (Oct 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 79507859.	NM_148960.3(CLDN19):c.645C>T (p.Pro215=) GRCh37: Chr1:43200787 GRCh38: Chr1:42735116	CLDN19		not provided	Likely benign (Dec 2, 2021)	criteria provided, single submitter
Select item 199723560.	NM_148960.3(CLDN19):c.627-20C>G GRCh37: Chr1:43200825 GRCh38: Chr1:42735154	CLDN19		not provided	Likely benign (May 21, 2022)	criteria provided, single submitter
Select item 164996161.	NM_148960.3(CLDN19):c.627-20C>A GRCh37: Chr1:43200825 GRCh38: Chr1:42735154	CLDN19		not provided	Likely benign (Aug 31, 2021)	criteria provided, single submitter
Select item 119309262.	NM_148960.3(CLDN19):c.627-36dup GRCh37: Chr1:43200840-43200841 GRCh38: Chr1:42735169-42735170	CLDN19		not provided	Likely benign (Jun 5, 2020)	criteria provided, single submitter
Select item 127632463.	NM_148960.3(CLDN19):c.627-50C>T GRCh37: Chr1:43200855 GRCh38: Chr1:42735184	CLDN19		not provided	Benign (Aug 20, 2019)	criteria provided, single submitter
Select item 128728664.	NM_148960.3(CLDN19):c.626+333T>G GRCh37: Chr1:43201216 GRCh38: Chr1:42735545	CLDN19		not provided	Benign (Nov 10, 2018)	criteria provided, single submitter
Select item 128489965.	NM_148960.3(CLDN19):c.626+75C>G GRCh37: Chr1:43201474 GRCh38: Chr1:42735803	CLDN19	Q206E	not provided	Likely benign	no assertion criteria provided
Select item 59207866.	NM_148960.3(CLDN19):c.626+15_626+17delinsTGT GRCh37: Chr1:43201532-43201534 GRCh38: Chr1:42735861-42735863	CLDN19	R186C	not provided	Uncertain significance (Sep 16, 2018)	no assertion criteria provided
Select item 29733967.	NM_148960.3(CLDN19):c.626+15C>T GRCh37: Chr1:43201534 GRCh38: Chr1:42735863	CLDN19	R186C	not provided, Renal hypomagnesemia 5 with ocular involvement	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 198126868.	NM_148960.3(CLDN19):c.626A>G (p.Glu209Gly) GRCh37: Chr1:43201549 GRCh38: Chr1:42735878	CLDN19	E209G, S181G	not provided	Uncertain significance (Jun 14, 2022)	criteria provided, single submitter
Select item 131289169.	NM_148960.3(CLDN19):c.622C>T (p.Arg208Ter) GRCh37: Chr1:43201553 GRCh38: Chr1:42735882	CLDN19	R208*	not provided, Renal hypomagnesemia 5 with ocular involvement	Uncertain significance (Nov 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 189989870.	NM_148960.3(CLDN19):c.619G>A (p.Ala207Thr) GRCh37: Chr1:43201556 GRCh38: Chr1:42735885	CLDN19	A207T	not provided	Uncertain significance (Jun 3, 2022)	criteria provided, single submitter
Select item 29734071.	NM_148960.3(CLDN19):c.599G>A (p.Arg200Gln) GRCh37: Chr1:43201576 GRCh38: Chr1:42735905	CLDN19	R200Q, G172S	Renal hypomagnesemia 5 with ocular involvement, not provided	Benign (Oct 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 139993672.	NM_148960.3(CLDN19):c.579C>G (p.Asn193Lys) GRCh37: Chr1:43201596 GRCh38: Chr1:42735925	CLDN19	N193K, T165R	not provided	Uncertain significance (Apr 1, 2022)	criteria provided, single submitter
Select item 29734173.	NM_148960.3(CLDN19):c.561G>A (p.Pro187=) GRCh37: Chr1:43201614 GRCh38: Chr1:42735943	CLDN19	R159Q	not provided, Renal hypomagnesemia 5 with ocular involvement	Benign (Oct 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 87546574.	NM_148960.3(CLDN19):c.560C>T (p.Pro187Leu) GRCh37: Chr1:43201615 GRCh38: Chr1:42735944	CLDN19	P187L, R159W	Inborn genetic diseases, Renal hypomagnesemia 5 with ocular involvement	Uncertain significance (Aug 4, 2023)	criteria provided, multiple submitters, no conflicts
Select item 205831075.	NM_148960.3(CLDN19):c.555A>T (p.Thr185=) GRCh37: Chr1:43201620 GRCh38: Chr1:42735949	CLDN19	H157L	not provided	Likely benign (Aug 8, 2022)	criteria provided, single submitter
Select item 54867276.	NM_148960.3(CLDN19):c.535G>A (p.Gly179Ser) GRCh37: Chr1:43201640 GRCh38: Chr1:42735969	CLDN19	G179S	Renal hypomagnesemia 5 with ocular involvement	Likely pathogenic (Sep 2, 2022)	criteria provided, single submitter
Select item 219844577.	NM_148960.3(CLDN19):c.534C>T (p.Gly178=) GRCh37: Chr1:43201641 GRCh38: Chr1:42735970	CLDN19	A150V	not provided	Likely benign (Jun 13, 2022)	criteria provided, single submitter
Select item 97442278.	NM_148960.3(CLDN19):c.530T>G (p.Leu177Arg) GRCh37: Chr1:43201645 GRCh38: Chr1:42735974	CLDN19	L177R, W149G	Renal hypomagnesemia 5 with ocular involvement	Likely pathogenic (Feb 1, 2020)	criteria provided, single submitter
Select item 95420779.	NM_148960.3(CLDN19):c.526G>A (p.Val176Met) GRCh37: Chr1:43201649 GRCh38: Chr1:42735978	CLDN19	V176M	Renal hypomagnesemia 5 with ocular involvement, Inborn genetic diseases, not provided	Conflicting interpretations of pathogenicity (Apr 5, 2023)	criteria provided, conflicting interpretations
Select item 249557380.	NM_148960.3(CLDN19):c.524C>T (p.Ala175Val) GRCh37: Chr1:43201651 GRCh38: Chr1:42735980	CLDN19	P147S, A175V	Inborn genetic diseases	Uncertain significance (Mar 13, 2023)	criteria provided, single submitter
Select item 87546681.	NM_148960.3(CLDN19):c.498C>T (p.Phe166=) GRCh37: Chr1:43201677 GRCh38: Chr1:42736006	CLDN19	S138L	not provided, Renal hypomagnesemia 5 with ocular involvement	Conflicting interpretations of pathogenicity (Apr 29, 2022)	criteria provided, conflicting interpretations
Select item 211998382.	NM_148960.3(CLDN19):c.474-1G>A GRCh37: Chr1:43201702 GRCh38: Chr1:42736031	CLDN19		not provided	Likely pathogenic (Mar 31, 2022)	criteria provided, single submitter
Select item 168761383.	NM_148960.3(CLDN19):c.474-1G>C GRCh37: Chr1:43201702 GRCh38: Chr1:42736031	CLDN19		Renal hypomagnesemia 5 with ocular involvement	Pathogenic (May 22, 2022)	criteria provided, single submitter
Select item 121462884.	NM_148960.3(CLDN19):c.474-167G>T GRCh37: Chr1:43201868 GRCh38: Chr1:42736197	CLDN19		not provided	Likely benign (Mar 7, 2020)	criteria provided, single submitter
Select item 121739585.	NM_148960.3(CLDN19):c.474-291A>G GRCh37: Chr1:43201992 GRCh38: Chr1:42736321	CLDN19		not provided	Likely benign (Jan 26, 2020)	criteria provided, single submitter
Select item 258523486.	NM_148960.3(CLDN19):c.473+1G>T GRCh37: Chr1:43203899 GRCh38: Chr1:42738228	CLDN19		Renal hypomagnesemia 5 with ocular involvement	Uncertain significance	criteria provided, single submitter
Select item 87546787.	NM_148960.3(CLDN19):c.439G>A (p.Glu147Lys) GRCh37: Chr1:43203934 GRCh38: Chr1:42738263	CLDN19	E147K	Renal hypomagnesemia 5 with ocular involvement	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 233881788.	NM_148960.3(CLDN19):c.433A>G (p.Thr145Ala) GRCh37: Chr1:43203940 GRCh38: Chr1:42738269	CLDN19	T145A	Inborn genetic diseases	Uncertain significance (Dec 21, 2022)	criteria provided, single submitter
Select item 218624889.	NM_148960.3(CLDN19):c.429G>T (p.Leu143=) GRCh37: Chr1:43203944 GRCh38: Chr1:42738273	CLDN19		not provided	Likely benign (Jun 22, 2022)	criteria provided, single submitter
Select item 133360990.	NM_148960.3(CLDN19):c.427del (p.Leu143fs) GRCh37: Chr1:43203946 GRCh38: Chr1:42738275	CLDN19	L143fs	Renal hypomagnesemia 5 with ocular involvement, not provided	Pathogenic (Aug 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 155286891.	NM_148960.3(CLDN19):c.414G>A (p.Ser138=) GRCh37: Chr1:43203959 GRCh38: Chr1:42738288	CLDN19		not provided	Likely benign (Sep 21, 2022)	criteria provided, single submitter
Select item 203940592.	NM_148960.3(CLDN19):c.409G>T (p.Val137Phe) GRCh37: Chr1:43203964 GRCh38: Chr1:42738293	CLDN19	V137F	not provided	Uncertain significance (Dec 10, 2021)	criteria provided, single submitter
Select item 232532093.	NM_148960.3(CLDN19):c.407C>T (p.Ala136Val) GRCh37: Chr1:43203966 GRCh38: Chr1:42738295	CLDN19	A136V	Inborn genetic diseases	Uncertain significance (Nov 10, 2022)	criteria provided, single submitter
Select item 137694994.	NM_148960.3(CLDN19):c.388+19T>A GRCh37: Chr1:43204073 GRCh38: Chr1:42738402	CLDN19		not provided	Likely benign (Jun 28, 2022)	criteria provided, single submitter
Select item 56059995.	NM_148960.3(CLDN19):c.388G>T (p.Gly130Cys) GRCh37: Chr1:43204092 GRCh38: Chr1:42738421	CLDN19	G130C	Renal hypomagnesemia 5 with ocular involvement	Pathogenic	no assertion criteria provided
Select item 87546896.	NM_148960.3(CLDN19):c.350G>A (p.Arg117His) GRCh37: Chr1:43204130 GRCh38: Chr1:42738459	CLDN19	R117H	Renal hypomagnesemia 5 with ocular involvement	Uncertain significance (Apr 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 100142197.	NM_148960.3(CLDN19):c.349C>T (p.Arg117Cys) GRCh37: Chr1:43204131 GRCh38: Chr1:42738460	CLDN19	R117C	Renal hypomagnesemia 5 with ocular involvement, not provided	Uncertain significance (May 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 212140598.	NM_148960.3(CLDN19):c.348C>T (p.Gly116=) GRCh37: Chr1:43204132 GRCh38: Chr1:42738461	CLDN19		not provided	Likely benign (Jun 1, 2022)	criteria provided, single submitter
Select item 29734299.	NM_148960.3(CLDN19):c.337A>G (p.Ile113Val) GRCh37: Chr1:43204143 GRCh38: Chr1:42738472	CLDN19	I113V	Renal hypomagnesemia 5 with ocular involvement	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 297343100.	NM_148960.3(CLDN19):c.335C>T (p.Pro112Leu) GRCh37: Chr1:43204145 GRCh38: Chr1:42738474	CLDN19	P112L	not provided, Renal hypomagnesemia 5 with ocular involvement	Uncertain significance (May 3, 2022)	criteria provided, multiple submitters, no conflicts

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