2040[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2672311	Single allele	A3GALT2, ACOT11 +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 59966	GRCh38/hg38 1p34.2-34.1(chr1:40462415-44668040)x1	ARTN, ATP6V0B +279 more	Copy number loss	See cases	GPathogenic
Select item 57093	GRCh38/hg38 1p34.2-34.1(chr1:40693289-44514104)x1	ARTN, ATP6V0B +253 more	Copy number loss	See cases	GPathogenic
Select item 154142	GRCh38/hg38 1p34.2(chr1:40834404-43123071)x1	C1orf50, CCDC30 +142 more	Copy number loss	See cases	GPathogenic
Select item 3062343	GRCh38/hg38 1p34.2(chr1:42278946-43598390)	C1orf210, C1orf50 +91 more	Copy number loss	Epilepsy syndrome	GPathogenic
Select item 152832	GRCh38/hg38 1p34.2(chr1:42653385-43093829)x1	C1orf50, CCDC30 +43 more	Copy number loss	See cases	GLikely pathogenic
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 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 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 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 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 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 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 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 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 297316	NM_148960.3(CLDN19):c.*1733G>A	CLDN19	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	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 297318	NM_148960.3(CLDN19):c.*1642T>C	CLDN19	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 297331	NM_148960.3(CLDN19):c.*536G>A	CLDN19	Single nucleotide variant (3 prime UTR variant)	Renal Hypomagnesemia, Recessive	GUncertain significance
Select item 297332	NM_148960.3(CLDN19):c.*530del	CLDN19	Deletion (3 prime UTR variant)	Renal Hypomagnesemia, Recessive	GLikely benign
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 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 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 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 297335	NM_148960.3(CLDN19):c.*231A>G	CLDN19	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
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 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 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 297337	NM_148960.3(CLDN19):c.*91A>G	CLDN19	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
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 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 64478	NM_148960.3(CLDN19):c.671T>A (p.Val224Glu)	CLDN19 (V224E)	Single nucleotide variant (3 prime UTR variant +1 more)	Renal hypomagnesemia 5 with ocular involvement +1 more	GUncertain significance
Select item 1966291	NM_148960.3(CLDN19):c.663C>T (p.Pro221=)	CLDN19	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
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 1482094	NM_148960.3(CLDN19):c.652G>A (p.Ala218Thr)	CLDN19 (A218T)	Single nucleotide variant (3 prime UTR variant +1 more)	Renal hypomagnesemia 5 with ocular involvement +1 more	GUncertain significance
Select item 2905685	NM_148960.3(CLDN19):c.651C>T (p.Ser217=)	CLDN19	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 836436	NM_148960.3(CLDN19):c.646G>A (p.Ala216Thr)	CLDN19 (A216T)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GUncertain significance
Select item 795078	NM_148960.3(CLDN19):c.645C>T (p.Pro215=)	CLDN19	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1997235	NM_148960.3(CLDN19):c.627-20C>G	CLDN19	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1649961	NM_148960.3(CLDN19):c.627-20C>A	CLDN19	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1193092	NM_148960.3(CLDN19):c.627-36dup	CLDN19	Duplication (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1276324	NM_148960.3(CLDN19):c.627-50C>T	CLDN19	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1287286	NM_148960.3(CLDN19):c.626+333T>G	CLDN19	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1284899	NM_148960.3(CLDN19):c.626+75C>G	CLDN19 (Q206E)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 592078	NM_148960.3(CLDN19):c.626+15_626+17delinsTGT	CLDN19 (R186C)	Indel (3 prime UTR variant +2 more)	not provided	GUncertain significance
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 1981268	NM_148960.3(CLDN19):c.626A>G (p.Glu209Gly)	CLDN19 (E209G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1899898	NM_148960.3(CLDN19):c.619G>A (p.Ala207Thr)	CLDN19 (A207T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 297340	NM_148960.3(CLDN19):c.599G>A (p.Arg200Gln)	CLDN19 (R200Q +1 more)	Single nucleotide variant (missense variant)	Renal hypomagnesemia 5 with ocular involvement +1 more	GBenign
Select item 1399936	NM_148960.3(CLDN19):c.579C>G (p.Asn193Lys)	CLDN19 (N193K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 297341	NM_148960.3(CLDN19):c.561G>A (p.Pro187=)	CLDN19 (R159Q)	Single nucleotide variant (synonymous variant +1 more)	Renal hypomagnesemia 5 with ocular involvement +1 more	GBenign
Select item 875465	NM_148960.3(CLDN19):c.560C>T (p.Pro187Leu)	CLDN19 (P187L +1 more)	Single nucleotide variant (missense variant)	Renal hypomagnesemia 5 with ocular involvement +1 more	GUncertain significance
Select item 2058310	NM_148960.3(CLDN19):c.555A>T (p.Thr185=)	CLDN19 (H157L)	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3242162	NM_148960.3(CLDN19):c.535G>C (p.Gly179Arg)	CLDN19 (G179R)	Single nucleotide variant (missense variant +1 more)	Renal hypomagnesemia 5 with ocular involvement	GLikely pathogenic
Select item 548672	NM_148960.3(CLDN19):c.535G>A (p.Gly179Ser)	CLDN19 (G179S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2198445	NM_148960.3(CLDN19):c.534C>T (p.Gly178=)	CLDN19 (A150V)	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 3049736	NM_148960.3(CLDN19):c.525C>T (p.Ala175=)	CLDN19 (P147L)	Single nucleotide variant (synonymous variant +1 more)	CLDN19-related disorder	GLikely benign
Select item 2495573	NM_148960.3(CLDN19):c.524C>T (p.Ala175Val)	CLDN19 (P147S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 875466	NM_148960.3(CLDN19):c.498C>T (p.Phe166=)	CLDN19 (S138L)	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3267599	NM_148960.3(CLDN19):c.492C>A (p.Ala164=)	CLDN19 (P136H)	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2119983	NM_148960.3(CLDN19):c.474-1G>A	CLDN19	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
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 2697806	NM_148960.3(CLDN19):c.474-6T>C	CLDN19	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1214628	NM_148960.3(CLDN19):c.474-167G>T	CLDN19	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1217395	NM_148960.3(CLDN19):c.474-291A>G	CLDN19	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3257703	NM_148960.3(CLDN19):c.473+8C>T	CLDN19	Single nucleotide variant (intron variant)	not provided	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 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 2338817	NM_148960.3(CLDN19):c.433A>G (p.Thr145Ala)	CLDN19 (T145A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2186248	NM_148960.3(CLDN19):c.429G>T (p.Leu143=)	CLDN19	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1333609	NM_148960.3(CLDN19):c.427del (p.Leu143fs)	CLDN19 (L143fs)	Deletion (frameshift variant +1 more)	Renal hypomagnesemia 5 with ocular involvement +1 more	GPathogenic
Select item 1552868	NM_148960.3(CLDN19):c.414G>A (p.Ser138=)	CLDN19	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2039405	NM_148960.3(CLDN19):c.409G>T (p.Val137Phe)	CLDN19 (V137F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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