"GeneDx"[submitter] AND "CLDN16"[gene] - ClinVar

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

Search results

Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	LOC123453201, LOC123453202 +1450 more	Copy number gain	See cases	GPathogenic
Select item 57984	GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3	LOC132088897, LOC132088898 +1201 more	Copy number gain	See cases	GPathogenic
Select item 57868	GRCh38/hg38 3q27.2-29(chr3:185485849-198110178)x1	MIR944, MUC20 +557 more	Copy number loss	See cases	GPathogenic
Select item 57870	GRCh38/hg38 3q27.3-29(chr3:187446231-195029133)x1	ATP13A3, ATP13A3-DT +226 more	Copy number loss	See cases	GPathogenic
Select item 57822	GRCh38/hg38 3q28(chr3:190233992-190498928)x3	CLDN1, CLDN16 +4 more	Copy number gain	See cases	GUncertain significance
Select item 1266027	NM_021101.5(CLDN1):c.*261C>A	CLDN1, CLDN16	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1183502	NM_021101.5(CLDN1):c.*102G>A	CLDN1, CLDN16	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1250876	NM_021101.5(CLDN1):c.474-155G>A	CLDN1, CLDN16	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266907	NM_021101.5(CLDN1):c.474-268T>C	CLDN1, CLDN16	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277417	NM_021101.5(CLDN1):c.389-230T>A	CLDN1, CLDN16	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265460	NM_021101.5(CLDN1):c.388+135C>T	CLDN1, CLDN16	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 195367	NM_021101.5(CLDN1):c.369T>C (p.Gly123=)	CLDN1, CLDN16	Single nucleotide variant (synonymous variant)	Neonatal ichthyosis-sclerosing cholangitis syndrome +2 more	GBenign
Select item 1287539	NM_021101.5(CLDN1):c.366G>A (p.Gly122=)	CLDN1, CLDN16	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1226100	NM_021101.5(CLDN1):c.224-164C>T	CLDN16, CLDN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221315	NM_021101.5(CLDN1):c.224-207T>C	CLDN1, CLDN16	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246415	NM_021101.5(CLDN1):c.223+172C>G	CLDN1, CLDN16	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 489303	NM_021101.5(CLDN1):c.192C>A (p.Cys64Ter)	CLDN1, CLDN16 (C64*)	Single nucleotide variant (nonsense)	not provided	GPathogenic/Likely pathogenic
Select item 1306324	NM_021101.5(CLDN1):c.172A>T (p.Ser58Cys)	CLDN1, CLDN16 (S58C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 261401	NM_021101.5(CLDN1):c.-13G>C	CLDN1, CLDN16	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GBenign
Select item 1259600	NM_021101.5(CLDN1):c.-212G>T	CLDN1, CLDN16	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1242004	NC_000003.12:g.190322608C>T	CLDN16, CLDN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266716	NC_000003.12:g.190322650C>A	CLDN1, CLDN16	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267401	NC_000003.12:g.190322667G>A	CLDN1, CLDN16	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229364	NM_001378492.1(CLDN16):c.-93-707G>A	CLDN16	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281821	NM_001378492.1(CLDN16):c.-93-626A>G	CLDN16	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286736	NM_001378492.1(CLDN16):c.-93-575C>T	CLDN16	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 344443	NM_006580.3(CLDN16):c.-3A>T	CLDN16	Single nucleotide variant (intron variant)	Primary hypomagnesemia +1 more	GUncertain significance
Select item 282608	NM_006580.4(CLDN16):c.-45del	CLDN16 (A56fs)	Deletion (5 prime UTR variant)	Primary hypomagnesemia +2 more	GBenign/Likely benign
Select item 344445	NM_006580.4(CLDN16):c.-45G>C	CLDN16 (A56P)	Single nucleotide variant (5 prime UTR variant)	not specified +2 more	GBenign
Select item 422411	NM_006580.4(CLDN16):c.87G>C (p.Trp29Cys)	CLDN16 (W99C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1312719	NM_006580.4(CLDN16):c.100G>A (p.Asp34Asn)	CLDN16 (D34N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 260004	NM_006580.4(CLDN16):c.114+10T>C	CLDN16	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 1268116	NM_006580.4(CLDN16):c.114+100T>A	CLDN16	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280834	NM_006580.4(CLDN16):c.114+120A>G	CLDN16	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1342118	NM_006580.4(CLDN16):c.115-30G>A	CLDN16	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1311269	NM_006580.4(CLDN16):c.149G>A (p.Cys50Tyr)	CLDN16 (C50Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1209150	NM_006580.4(CLDN16):c.217+24G>T	CLDN16	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1215386	NM_006580.4(CLDN16):c.218-303T>G	CLDN16	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1271006	NM_006580.4(CLDN16):c.218-219A>G	CLDN16	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1197397	NM_006580.4(CLDN16):c.218-78T>G	CLDN16	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1723853	NM_006580.4(CLDN16):c.329C>T (p.Pro110Leu)	CLDN16 (P110L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1291856	NM_006580.4(CLDN16):c.383-186A>G	CLDN16	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1678754	NM_006580.4(CLDN16):c.487G>T (p.Gly163Cys)	CLDN16 (G163C)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 734800	NM_006580.4(CLDN16):c.532T>C (p.Leu178=)	CLDN16	Single nucleotide variant (synonymous variant)	Primary hypomagnesemia +1 more	GBenign/Likely benign
Select item 1241270	NM_006580.4(CLDN16):c.574+117A>G	CLDN16	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1215090	NM_006580.4(CLDN16):c.575-179A>T	CLDN16	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 344453	NM_006580.4(CLDN16):c.*204C>T	CLDN16	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 253655	GRCh37/hg19 3q27.3-28(chr3:186291045-191037240)x1	GMNC, UTS2B +28 more	Copy number loss	See cases	GPathogenic
Select item 253377	GRCh37/hg19 3q24-29(chr3:142995020-192997215)x4	AADAC, AADACL2 +220 more	Copy number gain	See cases	GPathogenic

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: 49