ClinVar for MedGen (Select 412966) - ClinVar

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Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2444863	NM_002354.3(EPCAM):c.849T>G (p.Ile283Met)	EPCAM (I283M)	Single nucleotide variant (missense variant)	Lynch syndrome 8 +1 more	GUncertain significance
Select item 2431898	NM_002354.3(EPCAM):c.413G>A (p.Arg138Gln)	EPCAM (R138Q)	Single nucleotide variant (missense variant)	Lynch syndrome 8 +1 more	GUncertain significance
Select item 1801503	NM_002354.3(EPCAM):c.214G>A (p.Glu72Lys)	EPCAM (E72K)	Single nucleotide variant (missense variant)	Lynch syndrome 8	GUncertain significance
Select item 1691528	NM_002354.3(EPCAM):c.64G>A (p.Ala22Thr)	EPCAM (A22T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1691520	NM_002354.3(EPCAM):c.344T>A (p.Met115Lys)	EPCAM (M115K)	Single nucleotide variant (missense variant)	Lynch syndrome 8	GUncertain significance
Select item 1320282	NM_002354.3(EPCAM):c.849TGT[1] (p.Val285del)	EPCAM (V285del)	Microsatellite (inframe_deletion)	Lynch syndrome 8	GUncertain significance
Select item 1049938	NM_002354.3(EPCAM):c.-2_77del (p.Met1fs)	EPCAM (M1fs)	Deletion (frameshift variant +1 more)	Lynch syndrome 8	GUncertain significance
Select item 973066	NM_002354.3(EPCAM):c.-1C>G	EPCAM	Single nucleotide variant (5 prime UTR variant)	Lynch syndrome 8	Gnot provided
Select item 632795	NM_002354.3(EPCAM):c.11C>T (p.Pro4Leu)	EPCAM (P4L)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 258645	NM_002354.3(EPCAM):c.904-12T>C	EPCAM	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 258644	NM_002354.3(EPCAM):c.859-7C>T	EPCAM	Single nucleotide variant (intron variant)	Lynch syndrome 8 +2 more	GBenign
Select item 258643	NM_002354.3(EPCAM):c.426-20A>G	EPCAM	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 239136	NM_002354.3(EPCAM):c.616G>A (p.Asp206Asn)	EPCAM (D206N)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 239124	NM_002354.3(EPCAM):c.179C>T (p.Ser60Leu)	EPCAM (S60L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 239123	NM_002354.3(EPCAM):c.165T>C (p.Asn55=)	EPCAM	Single nucleotide variant (synonymous variant)	Lynch syndrome 8 +2 more	GLikely benign
Select item 239119	NM_002354.3(EPCAM):c.111C>G (p.Asn37Lys)	EPCAM (N37K)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 215813	NM_002354.3(EPCAM):c.304A>G (p.Ser102Gly)	EPCAM (S102G)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 215500	NM_002354.3(EPCAM):c.344_345inv (p.Met115Thr)	EPCAM (M115T)	Inversion (missense variant)	Lynch syndrome 8 +2 more	GBenign
Select item 215499	NM_002354.3(EPCAM):c.135A>G (p.Gln45=)	EPCAM	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 188255	NM_002354.3(EPCAM):c.93C>G (p.Asn31Lys)	EPCAM (N31K)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +1 more	GLikely benign
Select item 188106	NM_002354.3(EPCAM):c.50C>T (p.Thr17Met)	EPCAM (T17M)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +2 more	GUncertain significance
Select item 183700	NM_002354.3(EPCAM):c.344T>C (p.Met115Thr)	EPCAM (M115T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GBenign
Select item 157603	NM_002354.3(EPCAM):c.556-14A>G	EPCAM	Single nucleotide variant (intron variant)	Congenital diarrhea 5 with tufting enteropathy +2 more	GConflicting classifications of pathogenicity
Select item 137216	NM_002354.3(EPCAM):c.50C>A (p.Thr17Lys)	EPCAM (T17K)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GBenign
Select item 137215	NM_002354.3(EPCAM):c.491+19A>T	EPCAM	Single nucleotide variant (intron variant)	Congenital diarrhea 5 with tufting enteropathy +2 more	GBenign/Likely benign
Select item 137213	NM_002354.3(EPCAM):c.858G>A (p.Leu286=)	EPCAM	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign
Select item 136033	NM_002354.3(EPCAM):c.859-6A>G	EPCAM	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 136027	NM_002354.3(EPCAM):c.577A>G (p.Ile193Val)	EPCAM (I193V)	Single nucleotide variant (missense variant)	EPCAM-related condition +4 more	GUncertain significance
Select item 136026	NM_002354.3(EPCAM):c.574A>T (p.Thr192Ser)	EPCAM (T192S)	Single nucleotide variant (missense variant)	Congenital diarrhea 5 with tufting enteropathy +2 more	GUncertain significance
Select item 136022	NM_002354.3(EPCAM):c.466C>T (p.Pro156Ser)	EPCAM (P156S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 136021	NM_002354.3(EPCAM):c.342C>T (p.Ser114=)	EPCAM	Single nucleotide variant (synonymous variant)	Hereditary nonpolyposis colorectal neoplasms +3 more	GLikely benign
Select item 136018	NM_002354.3(EPCAM):c.232C>G (p.Leu78Val)	EPCAM (L78V)	Single nucleotide variant (missense variant)	Congenital diarrhea 5 with tufting enteropathy +2 more	GUncertain significance
Select item 136017	NM_002354.3(EPCAM):c.159A>C (p.Ala53=)	EPCAM	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign
Select item 132761	NM_002354.3(EPCAM):c.492-5T>C	EPCAM	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign
Select item 132748	NM_002354.3(EPCAM):c.515C>T (p.Thr172Met)	EPCAM (T172M)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GBenign
Select item 12776	NR_030286.1(MIR559):n.278_23134del	EPCAM	Deletion	Lynch syndrome 8	GPathogenic
Select item 12775	NM_002354.2(EPCAM):c.859-1462_*1999del	EPCAM	Deletion	Lynch syndrome 8	GPathogenic

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Items: 38