ClinVar for MedGen (Select 1648449) - ClinVar

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Items: 88

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25852341.	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 25010102.	NM_148960.3(CLDN19):c.181C>T (p.Gln61Ter) GRCh37: Chr1:43205554 GRCh38: Chr1:42739883	CLDN19	Q61*	Renal hypomagnesemia 5 with ocular involvement	Pathogenic	no assertion criteria provided
Select item 16876133.	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 15297574.	NM_148960.3(CLDN19):c.129C>T (p.Ala43=) GRCh37: Chr1:43205606 GRCh38: Chr1:42739935	CLDN19		Renal hypomagnesemia 5 with ocular involvement, not provided	Likely benign (Oct 26, 2021)	criteria provided, multiple submitters, no conflicts
Select item 14995465.	NM_148960.3(CLDN19):c.314C>T (p.Thr105Met) GRCh37: Chr1:43204166 GRCh38: Chr1:42738495	CLDN19	T105M	Renal hypomagnesemia 5 with ocular involvement, not provided	Uncertain significance (Aug 31, 2021)	criteria provided, multiple submitters, no conflicts
Select item 14820946.	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 13949017.	NM_148960.3(CLDN19):c.206C>T (p.Ser69Leu) GRCh37: Chr1:43205529 GRCh38: Chr1:42739858	CLDN19	S69L	CLDN19-related condition, not provided, Renal hypomagnesemia 5 with ocular involvement	Uncertain significance (Aug 23, 2023)	criteria provided, multiple submitters, no conflicts
Select item 13678518.	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 13336099.	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 133348910.	NM_148960.3(CLDN19):c.83C>T (p.Pro28Leu) GRCh37: Chr1:43205652 GRCh38: Chr1:42739981	CLDN19	P28L	Renal hypomagnesemia 5 with ocular involvement	Likely pathogenic (Jan 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 131289111.	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 105303312.	NM_148960.3(CLDN19):c.229A>G (p.Ile77Val) GRCh37: Chr1:43204251 GRCh38: Chr1:42738580	CLDN19	I77V	not provided, Renal hypomagnesemia 5 with ocular involvement, Inborn genetic diseases	Uncertain significance (May 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 100142113.	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 97442214.	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 95420715.	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 93021316.	NM_006580.4(CLDN16):c.67G>A (p.Ala23Thr) GRCh37: Chr3:190106185 GRCh38: Chr3:190388396	CLDN16	A23T	Renal hypomagnesemia 5 with ocular involvement	Likely pathogenic	no assertion criteria provided
Select item 87648617.	NM_148960.3(CLDN19):c.140A>G (p.Tyr47Cys) GRCh37: Chr1:43205595 GRCh38: Chr1:42739924	CLDN19	Y47C	Renal hypomagnesemia 5 with ocular involvement	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87644418.	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 87644319.	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 87644220.	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 87644121.	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 87546822.	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 87546723.	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 87546624.	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 87546525.	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 87541626.	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 87541527.	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 87541428.	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 87541329.	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 87541230.	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 87535231.	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 87454432.	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 87454333.	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 87454234.	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 87449035.	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 87448936.	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 87448837.	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 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 87444439.	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 87444340.	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 87444241.	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 87444142.	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 87444043.	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 87443944.	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 87443845.	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 87443746.	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 87359647.	NM_148960.3(CLDN19):c.-150C>T GRCh37: Chr1:43205884 GRCh38: Chr1:42740213	CLDN19		Renal hypomagnesemia 5 with ocular involvement	Uncertain significance (Mar 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 83643648.	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 56059949.	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 54867250.	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 54863751.	NM_148960.3(CLDN19):c.169C>T (p.Gln57Ter) GRCh37: Chr1:43205566 GRCh38: Chr1:42739895	CLDN19	Q57*	Renal hypomagnesemia 5 with ocular involvement	Pathogenic (Jul 10, 2018)	no assertion criteria provided
Select item 54863652.	NM_148960.3(CLDN19):c.269T>G (p.Leu90Arg) GRCh37: Chr1:43204211 GRCh38: Chr1:42738540	CLDN19	L90R	not provided, Renal hypomagnesemia 5 with ocular involvement	Pathogenic/Likely pathogenic (Jan 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 29734953.	NM_148960.3(CLDN19):c.-146G>A GRCh37: Chr1:43205880 GRCh38: Chr1:42740209	CLDN19		Renal hypomagnesemia 5 with ocular involvement	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 29734854.	NM_148960.3(CLDN19):c.-145C>T GRCh37: Chr1:43205879 GRCh38: Chr1:42740208	CLDN19		Renal hypomagnesemia 5 with ocular involvement	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 29734755.	NM_148960.3(CLDN19):c.39G>T (p.Leu13Phe) GRCh37: Chr1:43205696 GRCh38: Chr1:42740025	CLDN19	L13F	not provided, Renal hypomagnesemia 5 with ocular involvement	Benign/Likely benign (Nov 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 29734656.	NM_148960.3(CLDN19):c.65T>C (p.Ile22Thr) GRCh37: Chr1:43205670 GRCh38: Chr1:42739999	CLDN19	I22T	not provided, Renal hypomagnesemia 5 with ocular involvement	Uncertain significance (Jul 11, 2022)	criteria provided, multiple submitters, no conflicts
Select item 29734457.	NM_148960.3(CLDN19):c.168C>G (p.Ser56=) GRCh37: Chr1:43205567 GRCh38: Chr1:42739896	CLDN19		Renal hypomagnesemia 5 with ocular involvement	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 29734358.	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
Select item 29734259.	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 29734160.	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 29734061.	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 29733962.	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 29733863.	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 29733764.	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 29733665.	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 29733566.	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 29733467.	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 29733368.	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 29733069.	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 29732970.	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 29732871.	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 29732772.	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 29732673.	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 29732574.	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 29732475.	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 29732376.	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 29732277.	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 29732178.	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 29732079.	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 29731980.	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 29731881.	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 29731782.	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 29731683.	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 29731584.	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 6447885.	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 136386.	NM_148960.3(CLDN19):c.269T>C (p.Leu90Pro) GRCh37: Chr1:43204211 GRCh38: Chr1:42738540	CLDN19	L90P	Renal hypomagnesemia 5 with ocular involvement	Pathogenic (Nov 1, 2006)	no assertion criteria provided
Select item 136287.	NM_148960.3(CLDN19):c.169C>G (p.Gln57Glu) GRCh37: Chr1:43205566 GRCh38: Chr1:42739895	CLDN19	Q57E	Renal hypomagnesemia 5 with ocular involvement	Pathogenic (Nov 1, 2006)	no assertion criteria provided
Select item 136188.	NM_148960.3(CLDN19):c.59G>A (p.Gly20Asp) GRCh37: Chr1:43205676 GRCh38: Chr1:42740005	CLDN19	G20D	not provided, Renal hypomagnesemia 5 with ocular involvement	Pathogenic/Likely pathogenic (Oct 5, 2022)	criteria provided, multiple submitters, no conflicts

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Items: 88