ClinVar for MedGen (Select 1648449) - ClinVar

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Items: 90

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068324	NM_148960.3(CLDN19):c.162C>A (p.Cys54Ter)	CLDN19 (C54*)	Single nucleotide variant (nonsense)	Renal hypomagnesemia 5 with ocular involvement	GLikely pathogenic
Select item 3064966	NM_148960.3(CLDN19):c.-24_47dup (p.Gly17fs)	CLDN19 (G17fs)	Duplication (frameshift variant +1 more)	Renal hypomagnesemia 5 with ocular involvement	GUncertain significance
Select item 2585234	NM_148960.3(CLDN19):c.473+1G>T	CLDN19	Single nucleotide variant (intron variant +1 more)	Renal hypomagnesemia 5 with ocular involvement	GUncertain significance
Select item 2501010	NM_148960.3(CLDN19):c.181C>T (p.Gln61Ter)	CLDN19 (Q61*)	Single nucleotide variant (nonsense)	Renal hypomagnesemia 5 with ocular involvement	GPathogenic
Select item 1687613	NM_148960.3(CLDN19):c.474-1G>C	CLDN19	Single nucleotide variant (splice acceptor variant)	Renal hypomagnesemia 5 with ocular involvement	GPathogenic
Select item 1529757	NM_148960.3(CLDN19):c.129C>T (p.Ala43=)	CLDN19	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1499546	NM_148960.3(CLDN19):c.314C>T (p.Thr105Met)	CLDN19 (T105M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1482094	NM_148960.3(CLDN19):c.652G>A (p.Ala218Thr)	CLDN19 (A218T)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 1394901	NM_148960.3(CLDN19):c.206C>T (p.Ser69Leu)	CLDN19 (S69L)	Single nucleotide variant (missense variant)	Renal hypomagnesemia 5 with ocular involvement +2 more	GUncertain significance
Select item 1367851	NM_148960.3(CLDN19):c.658G>T (p.Gly220Cys)	CLDN19 (G220C)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 1333609	NM_148960.3(CLDN19):c.427del (p.Leu143fs)	CLDN19 (L143fs)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic
Select item 1333489	NM_148960.3(CLDN19):c.83C>T (p.Pro28Leu)	CLDN19 (P28L)	Single nucleotide variant (missense variant)	Renal hypomagnesemia 5 with ocular involvement	GLikely pathogenic
Select item 1312891	NM_148960.3(CLDN19):c.622C>T (p.Arg208Ter)	CLDN19 (R208*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GUncertain significance
Select item 1053033	NM_148960.3(CLDN19):c.229A>G (p.Ile77Val)	CLDN19 (I77V)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1001421	NM_148960.3(CLDN19):c.349C>T (p.Arg117Cys)	CLDN19 (R117C)	Single nucleotide variant (missense variant)	Renal hypomagnesemia 5 with ocular involvement +1 more	GUncertain significance
Select item 974422	NM_148960.3(CLDN19):c.530T>G (p.Leu177Arg)	CLDN19 (L177R +1 more)	Single nucleotide variant (missense variant)	Renal hypomagnesemia 5 with ocular involvement	GLikely pathogenic
Select item 954207	NM_148960.3(CLDN19):c.526G>A (p.Val176Met)	CLDN19 (V176M)	Single nucleotide variant (missense variant +1 more)	Renal hypomagnesemia 5 with ocular involvement +2 more	GConflicting classifications of pathogenicity
Select item 930213	NM_006580.4(CLDN16):c.67G>A (p.Ala23Thr)	CLDN16 (A23T)	Single nucleotide variant (missense variant)	Renal hypomagnesemia 5 with ocular involvement	GLikely pathogenic
Select item 876486	NM_148960.3(CLDN19):c.140A>G (p.Tyr47Cys)	CLDN19 (Y47C)	Single nucleotide variant (missense variant)	Renal hypomagnesemia 5 with ocular involvement	GUncertain significance
Select item 876444	NM_148960.3(CLDN19):c.*642G>A	CLDN19	Single nucleotide variant (3 prime UTR variant)	Renal hypomagnesemia 5 with ocular involvement	GUncertain significance
Select item 876443	NM_148960.3(CLDN19):c.*800C>T	CLDN19	Single nucleotide variant (3 prime UTR variant)	Renal hypomagnesemia 5 with ocular involvement	GUncertain significance
Select item 876442	NM_148960.3(CLDN19):c.*867C>G	CLDN19	Single nucleotide variant (3 prime UTR variant)	Renal hypomagnesemia 5 with ocular involvement	GUncertain significance
Select item 876441	NM_148960.3(CLDN19):c.*1008C>T	CLDN19	Single nucleotide variant (3 prime UTR variant)	Renal hypomagnesemia 5 with ocular involvement	GUncertain significance
Select item 875468	NM_148960.3(CLDN19):c.350G>A (p.Arg117His)	CLDN19 (R117H)	Single nucleotide variant (missense variant)	Renal hypomagnesemia 5 with ocular involvement	GUncertain significance
Select item 875467	NM_148960.3(CLDN19):c.439G>A (p.Glu147Lys)	CLDN19 (E147K)	Single nucleotide variant (missense variant +1 more)	Renal hypomagnesemia 5 with ocular involvement	GUncertain significance
Select item 875466	NM_148960.3(CLDN19):c.498C>T (p.Phe166=)	CLDN19 (S138L)	Single nucleotide variant (synonymous variant +1 more)	Renal hypomagnesemia 5 with ocular involvement +1 more	GConflicting classifications of pathogenicity
Select item 875465	NM_148960.3(CLDN19):c.560C>T (p.Pro187Leu)	CLDN19 (P187L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 875416	NM_148960.3(CLDN19):c.*1072C>T	CLDN19	Single nucleotide variant (3 prime UTR variant)	Renal hypomagnesemia 5 with ocular involvement	GUncertain significance
Select item 875415	NM_148960.3(CLDN19):c.*1172C>T	CLDN19	Single nucleotide variant (3 prime UTR variant)	Renal hypomagnesemia 5 with ocular involvement	GUncertain significance
Select item 875414	NM_148960.3(CLDN19):c.*1312G>T	CLDN19	Single nucleotide variant (3 prime UTR variant)	Renal hypomagnesemia 5 with ocular involvement	GUncertain significance
Select item 875413	NM_148960.3(CLDN19):c.*1327T>C	CLDN19	Single nucleotide variant (3 prime UTR variant)	Renal hypomagnesemia 5 with ocular involvement	GBenign
Select item 875412	NM_148960.3(CLDN19):c.*1336T>C	CLDN19	Single nucleotide variant (3 prime UTR variant)	Renal hypomagnesemia 5 with ocular involvement	GUncertain significance
Select item 875352	NM_148960.3(CLDN19):c.*1357C>T	CLDN19	Single nucleotide variant (3 prime UTR variant)	Renal hypomagnesemia 5 with ocular involvement	GUncertain significance
Select item 874544	NM_148960.3(CLDN19):c.*45G>A	CLDN19	Single nucleotide variant (3 prime UTR variant)	Renal hypomagnesemia 5 with ocular involvement	GUncertain significance
Select item 874543	NM_148960.3(CLDN19):c.*119C>T	CLDN19	Single nucleotide variant (3 prime UTR variant)	Renal hypomagnesemia 5 with ocular involvement	GUncertain significance
Select item 874542	NM_148960.3(CLDN19):c.*177C>A	CLDN19	Single nucleotide variant (3 prime UTR variant)	Renal hypomagnesemia 5 with ocular involvement	GUncertain significance
Select item 874490	NM_148960.3(CLDN19):c.*285C>A	CLDN19	Single nucleotide variant (3 prime UTR variant)	Renal hypomagnesemia 5 with ocular involvement	GUncertain significance
Select item 874489	NM_148960.3(CLDN19):c.*491C>T	CLDN19	Single nucleotide variant (3 prime UTR variant)	Renal hypomagnesemia 5 with ocular involvement	GUncertain significance
Select item 874488	NM_148960.3(CLDN19):c.*598G>T	CLDN19	Single nucleotide variant (3 prime UTR variant)	Renal hypomagnesemia 5 with ocular involvement	GUncertain significance
Select item 874487	NM_148960.3(CLDN19):c.*624C>T	CLDN19	Single nucleotide variant (3 prime UTR variant)	Renal hypomagnesemia 5 with ocular involvement	GUncertain significance
Select item 874444	NM_148960.3(CLDN19):c.*1772A>C	CLDN19	Single nucleotide variant (3 prime UTR variant)	Renal hypomagnesemia 5 with ocular involvement	GUncertain significance
Select item 874443	NM_148960.3(CLDN19):c.*1822C>T	CLDN19	Single nucleotide variant (3 prime UTR variant)	Renal hypomagnesemia 5 with ocular involvement	GUncertain significance
Select item 874442	NM_148960.3(CLDN19):c.*1829A>G	CLDN19	Single nucleotide variant (3 prime UTR variant)	Renal hypomagnesemia 5 with ocular involvement	GUncertain significance
Select item 874441	NM_148960.3(CLDN19):c.*1908C>T	CLDN19	Single nucleotide variant (3 prime UTR variant)	Renal hypomagnesemia 5 with ocular involvement	GUncertain significance
Select item 874440	NM_148960.3(CLDN19):c.*1909G>A	CLDN19	Single nucleotide variant (3 prime UTR variant)	Renal hypomagnesemia 5 with ocular involvement	GUncertain significance
Select item 874439	NM_148960.3(CLDN19):c.*1919G>A	CLDN19	Single nucleotide variant (3 prime UTR variant)	Renal hypomagnesemia 5 with ocular involvement	GUncertain significance
Select item 874438	NM_148960.3(CLDN19):c.*1925T>C	CLDN19	Single nucleotide variant (3 prime UTR variant)	Renal hypomagnesemia 5 with ocular involvement	GUncertain significance
Select item 874437	NM_148960.3(CLDN19):c.*1965T>G	CLDN19	Single nucleotide variant (3 prime UTR variant)	Renal hypomagnesemia 5 with ocular involvement	GUncertain significance
Select item 873596	NM_148960.3(CLDN19):c.-150C>T	CLDN19	Single nucleotide variant (5 prime UTR variant)	Renal hypomagnesemia 5 with ocular involvement	GUncertain significance
Select item 836436	NM_148960.3(CLDN19):c.646G>A (p.Ala216Thr)	CLDN19 (A216T)	Single nucleotide variant (3 prime UTR variant +1 more)	Renal hypomagnesemia 5 with ocular involvement +1 more	GUncertain significance
Select item 560599	NM_148960.3(CLDN19):c.388G>T (p.Gly130Cys)	CLDN19 (G130C)	Single nucleotide variant (missense variant)	Renal hypomagnesemia 5 with ocular involvement	GPathogenic
Select item 548672	NM_148960.3(CLDN19):c.535G>A (p.Gly179Ser)	CLDN19 (G179S)	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 548637	NM_148960.3(CLDN19):c.169C>T (p.Gln57Ter)	CLDN19 (Q57*)	Single nucleotide variant (nonsense)	Renal hypomagnesemia 5 with ocular involvement	GPathogenic
Select item 548636	NM_148960.3(CLDN19):c.269T>G (p.Leu90Arg)	CLDN19 (L90R)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 297349	NM_148960.3(CLDN19):c.-146G>A	CLDN19	Single nucleotide variant (5 prime UTR variant)	Renal hypomagnesemia 5 with ocular involvement	GUncertain significance
Select item 297348	NM_148960.3(CLDN19):c.-145C>T	CLDN19	Single nucleotide variant (5 prime UTR variant)	Renal hypomagnesemia 5 with ocular involvement	GUncertain significance
Select item 297347	NM_148960.3(CLDN19):c.39G>T (p.Leu13Phe)	CLDN19 (L13F)	Single nucleotide variant (missense variant)	Renal hypomagnesemia 5 with ocular involvement +1 more	GBenign/Likely benign
Select item 297346	NM_148960.3(CLDN19):c.65T>C (p.Ile22Thr)	CLDN19 (I22T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 297344	NM_148960.3(CLDN19):c.168C>G (p.Ser56=)	CLDN19	Single nucleotide variant (synonymous variant)	Renal hypomagnesemia 5 with ocular involvement	GUncertain significance
Select item 297343	NM_148960.3(CLDN19):c.335C>T (p.Pro112Leu)	CLDN19 (P112L)	Single nucleotide variant (missense variant)	Renal hypomagnesemia 5 with ocular involvement +1 more	GUncertain significance
Select item 297342	NM_148960.3(CLDN19):c.337A>G (p.Ile113Val)	CLDN19 (I113V)	Single nucleotide variant (missense variant)	Renal hypomagnesemia 5 with ocular involvement	GUncertain significance
Select item 297341	NM_148960.3(CLDN19):c.561G>A (p.Pro187=)	CLDN19 (R159Q)	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 297340	NM_148960.3(CLDN19):c.599G>A (p.Arg200Gln)	CLDN19 (R200Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 297339	NM_148960.3(CLDN19):c.626+15C>T	CLDN19 (R186C)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +1 more	GBenign
Select item 297338	NM_148960.3(CLDN19):c.*19G>A	CLDN19	Single nucleotide variant (3 prime UTR variant)	Renal hypomagnesemia 5 with ocular involvement	GUncertain significance
Select item 297337	NM_148960.3(CLDN19):c.*91A>G	CLDN19	Single nucleotide variant (3 prime UTR variant)	Renal hypomagnesemia 5 with ocular involvement +1 more	GBenign
Select item 297336	NM_148960.3(CLDN19):c.*158G>A	CLDN19	Single nucleotide variant (3 prime UTR variant)	Renal hypomagnesemia 5 with ocular involvement +1 more	GBenign/Likely benign
Select item 297335	NM_148960.3(CLDN19):c.*231A>G	CLDN19	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 297334	NM_148960.3(CLDN19):c.*257C>T	CLDN19	Single nucleotide variant (3 prime UTR variant)	Renal hypomagnesemia 5 with ocular involvement	GUncertain significance
Select item 297333	NM_148960.3(CLDN19):c.*523G>A	CLDN19	Single nucleotide variant (3 prime UTR variant)	Renal hypomagnesemia 5 with ocular involvement	GUncertain significance
Select item 297330	NM_148960.3(CLDN19):c.*547C>T	CLDN19	Single nucleotide variant (3 prime UTR variant)	Renal hypomagnesemia 5 with ocular involvement	GUncertain significance
Select item 297329	NM_148960.3(CLDN19):c.*639C>T	CLDN19	Single nucleotide variant (3 prime UTR variant)	Renal hypomagnesemia 5 with ocular involvement	GUncertain significance
Select item 297328	NM_148960.3(CLDN19):c.*735G>C	CLDN19	Single nucleotide variant (3 prime UTR variant)	Renal hypomagnesemia 5 with ocular involvement	GUncertain significance
Select item 297327	NM_148960.3(CLDN19):c.*845C>G	CLDN19	Single nucleotide variant (3 prime UTR variant)	Renal hypomagnesemia 5 with ocular involvement	GLikely benign
Select item 297326	NM_148960.3(CLDN19):c.*873A>G	CLDN19	Single nucleotide variant (3 prime UTR variant)	Renal hypomagnesemia 5 with ocular involvement	GBenign
Select item 297325	NM_148960.3(CLDN19):c.*1018G>T	CLDN19	Single nucleotide variant (3 prime UTR variant)	Renal hypomagnesemia 5 with ocular involvement	GBenign
Select item 297324	NM_148960.3(CLDN19):c.*1073G>A	CLDN19	Single nucleotide variant (3 prime UTR variant)	Renal hypomagnesemia 5 with ocular involvement	GUncertain significance
Select item 297323	NM_148960.3(CLDN19):c.*1312G>A	CLDN19	Single nucleotide variant (3 prime UTR variant)	Renal hypomagnesemia 5 with ocular involvement	GUncertain significance
Select item 297322	NM_148960.3(CLDN19):c.*1353G>A	CLDN19	Single nucleotide variant (3 prime UTR variant)	Renal hypomagnesemia 5 with ocular involvement	GUncertain significance
Select item 297321	NM_148960.3(CLDN19):c.*1428A>G	CLDN19	Single nucleotide variant (3 prime UTR variant)	Renal hypomagnesemia 5 with ocular involvement	GUncertain significance
Select item 297320	NM_148960.3(CLDN19):c.*1483G>T	CLDN19	Single nucleotide variant (3 prime UTR variant)	Renal hypomagnesemia 5 with ocular involvement	GUncertain significance
Select item 297319	NM_148960.3(CLDN19):c.*1621T>C	CLDN19	Single nucleotide variant (3 prime UTR variant)	Renal hypomagnesemia 5 with ocular involvement	GUncertain significance
Select item 297318	NM_148960.3(CLDN19):c.*1642T>C	CLDN19	Single nucleotide variant (3 prime UTR variant)	Renal hypomagnesemia 5 with ocular involvement	GBenign
Select item 297317	NM_148960.3(CLDN19):c.*1698A>G	CLDN19	Single nucleotide variant (3 prime UTR variant)	Renal hypomagnesemia 5 with ocular involvement	GUncertain significance
Select item 297316	NM_148960.3(CLDN19):c.*1733G>A	CLDN19	Single nucleotide variant (3 prime UTR variant)	Renal hypomagnesemia 5 with ocular involvement	GBenign
Select item 297315	NM_148960.3(CLDN19):c.*1760C>T	CLDN19	Single nucleotide variant (3 prime UTR variant)	Renal hypomagnesemia 5 with ocular involvement	GBenign
Select item 64478	NM_148960.3(CLDN19):c.671T>A (p.Val224Glu)	CLDN19 (V224E)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1363	NM_148960.3(CLDN19):c.269T>C (p.Leu90Pro)	CLDN19 (L90P)	Single nucleotide variant (missense variant)	Renal hypomagnesemia 5 with ocular involvement	GPathogenic
Select item 1362	NM_148960.3(CLDN19):c.169C>G (p.Gln57Glu)	CLDN19 (Q57E)	Single nucleotide variant (missense variant)	Renal hypomagnesemia 5 with ocular involvement	GPathogenic
Select item 1361	NM_148960.3(CLDN19):c.59G>A (p.Gly20Asp)	CLDN19 (G20D)	Single nucleotide variant (missense variant)	CLDN19-related condition +2 more	GPathogenic/Likely pathogenic

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Items: 90