"GeneDx"[submitter] AND "LOC130059290"[gene] - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58632	GRCh38/hg38 16q21-23.1(chr16:58456122-74708723)x3	LOC130059197, LOC130059198 +575 more	Copy number gain	See cases	GPathogenic
Select item 59994	GRCh38/hg38 16q22.1(chr16:68611956-68888428)x3	CDH1, CDH3 +39 more	Copy number gain	See cases	GUncertain significance
Select item 59495	GRCh38/hg38 16q22.1-23.1(chr16:68698941-74353205)x1	AARS1, AP1G1 +263 more	Copy number loss	See cases	GPathogenic
Select item 221174	NM_004360.5(CDH1):c.-71C>G	CDH1, LOC130059290	Single nucleotide variant (5 prime UTR variant)	CDH1-related diffuse gastric and lobular breast cancer syndrome	GBenign FDA Recognized database
Select item 419385	NM_004360.5(CDH1):c.-58GCCCG[3]	CDH1, LOC130059290	Microsatellite (5 prime UTR variant)	CDH1-related diffuse gastric and lobular breast cancer syndrome	GUncertain significance FDA Recognized database
Select item 182374	NM_004360.5(CDH1):c.-50CGACC[3]	LOC130059290, CDH1	Microsatellite (5 prime UTR variant)	not specified	GLikely benign
Select item 422227	NM_004360.5(CDH1):c.-50C>T	LOC130059290, CDH1	Single nucleotide variant (5 prime UTR variant)	CDH1-related diffuse gastric and lobular breast cancer syndrome	GUncertain significance FDA Recognized database
Select item 234282	NM_004360.5(CDH1):c.-50C>G	CDH1, LOC130059290	Single nucleotide variant (5 prime UTR variant)	CDH1-related diffuse gastric and lobular breast cancer syndrome	GUncertain significance FDA Recognized database
Select item 239872	NM_004360.5(CDH1):c.-49G>T	CDH1, LOC130059290	Single nucleotide variant (5 prime UTR variant)	Hereditary diffuse gastric adenocarcinoma +1 more	GBenign/Likely benign
Select item 423008	NM_004360.5(CDH1):c.-47C>T	CDH1, LOC130059290	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 421431	NM_004360.5(CDH1):c.-45C>T	CDH1, LOC130059290	Single nucleotide variant (5 prime UTR variant)	CDH1-related diffuse gastric and lobular breast cancer syndrome	GUncertain significance FDA Recognized database
Select item 279744	NM_004360.5(CDH1):c.-44G>A	LOC130059290, CDH1	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 182387	NM_004360.5(CDH1):c.-41C>A	CDH1, LOC130059290	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 380859	NM_004360.5(CDH1):c.-40G>A	CDH1, LOC130059290	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 385884	NM_004360.5(CDH1):c.-39C>T	CDH1, LOC130059290	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 380334	NM_004360.5(CDH1):c.-37C>A	CDH1, LOC130059290	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 234740	NM_004360.5(CDH1):c.-36C>T	LOC130059290, CDH1	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 509746	NM_004360.5(CDH1):c.-33G>T	LOC130059290, CDH1	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 377636	NM_004360.5(CDH1):c.-32C>G	CDH1, LOC130059290	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 384067	NM_004360.5(CDH1):c.-29C>G	CDH1, LOC130059290	Single nucleotide variant (5 prime UTR variant)	Hereditary diffuse gastric adenocarcinoma +1 more	GConflicting classifications of pathogenicity
Select item 182365	NM_004360.5(CDH1):c.-26C>T	CDH1, LOC130059290	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 182366	NM_004360.5(CDH1):c.-24C>G	LOC130059290, CDH1	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 182388	NM_004360.5(CDH1):c.-22C>A	LOC130059290, CDH1	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 379857	NM_004360.5(CDH1):c.-21G>C	CDH1, LOC130059290	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 127904	NM_004360.5(CDH1):c.-18C>T	LOC130059290, CDH1	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity

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Items: 25