"GeneDx"[submitter] AND "CLDN19"[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152832	GRCh38/hg38 1p34.2(chr1:42653385-43093829)x1	C1orf50, CCDC30 +43 more	Copy number loss	See cases	GLikely pathogenic
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 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 297337	NM_148960.3(CLDN19):c.*91A>G	CLDN19	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
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 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 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 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 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 954207	NM_148960.3(CLDN19):c.526G>A (p.Val176Met)	CLDN19 (V176M)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
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 1705005	NM_148960.3(CLDN19):c.316C>T (p.Arg106Trp)	CLDN19 (R106W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1197375	NM_148960.3(CLDN19):c.224-64C>A	CLDN19	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1191266	NM_148960.3(CLDN19):c.224-189del	CLDN19	Deletion (intron variant)	not provided	GLikely benign
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 1361	NM_148960.3(CLDN19):c.59G>A (p.Gly20Asp)	CLDN19 (G20D)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 297347	NM_148960.3(CLDN19):c.39G>T (p.Leu13Phe)	CLDN19 (L13F)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1207284	NC_000001.11:g.42740306G>A	CLDN19	Single nucleotide variant	not provided	GLikely benign
Select item 1229236	NC_000001.11:g.42740586G>T	CLDN19	Single nucleotide variant	not provided	GBenign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 22