Related gene-specific medical variations for Gene (Select 4072) - ClinVar

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

Links from Gene

Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065583	NM_002354.3(EPCAM):c.492-8C>T	EPCAM	Single nucleotide variant (intron variant)	Congenital diarrhea 5 with tufting enteropathy	GLikely benign
Select item 2689133	NM_002354.3(EPCAM):c.73G>T (p.Glu25Ter)	EPCAM (E25*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2627067	NM_002354.3(EPCAM):c.527T>C (p.Leu176Pro)	EPCAM (L176P)	Single nucleotide variant (missense variant)	Lynch syndrome 8	GUncertain significance
Select item 2440053	NM_002354.3(EPCAM):c.185-1G>C	EPCAM	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1332888	NM_002354.2(EPCAM):c.859-1430_*2033del	EPCAM	Deletion	Lynch syndrome 1	Gnot provided
Select item 1322824	NM_002354.3(EPCAM):c.160C>T (p.Gln54Ter)	EPCAM (Q54*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1319203	NM_002354.3(EPCAM):c.425+19A>G	EPCAM	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 973535	NM_002354.3(EPCAM):c.439G>T (p.Glu147Ter)	EPCAM (E147*)	Single nucleotide variant (nonsense)	Congenital diarrhea 5 with tufting enteropathy	GLikely pathogenic
Select item 808745	NM_002354.3(EPCAM):c.572T>G (p.Ile191Ser)	EPCAM (I191S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 619019	NC_000002.12:g.47142010_47142443dup	EPCAM, STPG4	Duplication	Lynch syndrome	GLikely benign
Select item 584581	NM_000251.2(MSH2):c.(?-1)_(1276+1_1277-1)del	EPCAM, MSH2	Deletion	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 584577	NM_002354.2(EPCAM):c.(903+1_904-1)_(*1_?)del	EPCAM, MSH2	Deletion	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 560815	NM_002354.3(EPCAM):c.903+15T>C	EPCAM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 560814	NM_002354.3(EPCAM):c.859-2A>G	EPCAM	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 560813	NM_002354.3(EPCAM):c.658-9del	EPCAM	Deletion (intron variant)	not provided	GLikely benign
Select item 560812	NM_002354.3(EPCAM):c.556-19_556-17del	EPCAM	Microsatellite (intron variant)	not specified	GBenign
Select item 560810	NM_002354.3(EPCAM):c.403T>G (p.Cys135Gly)	EPCAM (C135G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 560808	NM_002354.3(EPCAM):c.185-3C>T	EPCAM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 560807	NM_002354.3(EPCAM):c.184+1G>A	EPCAM	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 239143	NM_002354.2(EPCAM):c.859-?_*415+?dup	EPCAM	Duplication	Lynch syndrome	GUncertain significance
Select item 182461	NM_002354.2:c.1-45_1-26del	EPCAM	Deletion	Hereditary cancer-predisposing syndrome	GBenign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 21