"EPCAM-related disorder"[Disease/phenotype] AND "PreventionGenetics, p - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1801655	NM_002354.3(EPCAM):c.1A>G (p.Met1Val)	EPCAM (M1V)	Single nucleotide variant (missense variant +1 more)	EPCAM-related disorder	GLikely pathogenic
Select item 239138	NM_002354.3(EPCAM):c.6G>T (p.Ala2=)	EPCAM	Single nucleotide variant (synonymous variant)	EPCAM-related disorder +2 more	GLikely benign
Select item 1773743	NM_002354.3(EPCAM):c.103G>A (p.Ala35Thr)	EPCAM (A35T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 220544	NM_002354.3(EPCAM):c.106G>A (p.Val36Ile)	EPCAM (V36I)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1788681	NM_002354.3(EPCAM):c.108A>C (p.Val36=)	EPCAM	Single nucleotide variant (synonymous variant)	EPCAM-related disorder +1 more	GLikely benign
Select item 215811	NM_002354.3(EPCAM):c.171C>A (p.Val57=)	EPCAM	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 3044716	NM_002354.3(EPCAM):c.175T>A (p.Cys59Ser)	EPCAM (C59S)	Single nucleotide variant (missense variant)	EPCAM-related disorder	GUncertain significance
Select item 2632983	NM_002354.3(EPCAM):c.184+6T>G	EPCAM	Single nucleotide variant (intron variant)	EPCAM-related disorder	GUncertain significance
Select item 136019	NM_002354.3(EPCAM):c.269A>G (p.Asn90Ser)	EPCAM (N90S)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +2 more	GUncertain significance
Select item 220795	NM_002354.3(EPCAM):c.297C>T (p.Cys99=)	EPCAM	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 3053821	NM_002354.3(EPCAM):c.369G>A (p.Gly123=)	EPCAM	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 2632195	NM_002354.3(EPCAM):c.388G>A (p.Asp130Asn)	EPCAM (D130N)	Single nucleotide variant (missense variant)	EPCAM-related disorder	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 215501	NM_002354.3(EPCAM):c.458G>C (p.Arg153Thr)	EPCAM (R153T)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 215816	NM_002354.3(EPCAM):c.516G>A (p.Thr172=)	EPCAM	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 3057586	NM_002354.3(EPCAM):c.556-20T>C	EPCAM	Single nucleotide variant (intron variant)	EPCAM-related disorder	GLikely benign
Select item 136027	NM_002354.3(EPCAM):c.577A>G (p.Ile193Val)	EPCAM (I193V)	Single nucleotide variant (missense variant)	Lynch syndrome 8 +4 more	GUncertain significance
Select item 699699	NM_002354.3(EPCAM):c.828G>A (p.Val276=)	EPCAM	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 127851	NM_002354.3(EPCAM):c.831A>G (p.Ile277Met)	EPCAM (I277M)	Single nucleotide variant (missense variant)	EPCAM-related disorder +2 more	GBenign/Likely benign
Select item 3047081	NM_002354.3(EPCAM):c.894G>A (p.Glu298=)	EPCAM	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 1275848	NM_002354.2(EPCAM):c.*118T>C	EPCAM	Single nucleotide variant	Hereditary cancer-predisposing syndrome +3 more	GBenign
Select item 3055602	NM_002354.3(EPCAM):c.*128A>G	EPCAM	Single nucleotide variant (3 prime UTR variant)	EPCAM-related disorder	GLikely benign
Select item 336422	NM_002354.2(EPCAM):c.*362A>G	EPCAM	Single nucleotide variant	EPCAM-related disorder +1 more	GLikely benign

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Items: 23