"Epithelial Biology; Institute of Medical Biology, Singapore"[submitte - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 66519	NM_002273.4(KRT8):c.*38G>A	KRT8	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	Gnot provided
Select item 66518	NM_002273.4(KRT8):c.*31C>T	KRT8	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	Gnot provided
Select item 66520	NM_002273.4(KRT8):c.*8C>T	KRT8	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	Gnot provided
Select item 66530	NM_002273.4(KRT8):c.1392G>T (p.Lys464Asn)	KRT8 (K464N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 66529	NM_002273.4(KRT8):c.1360C>T (p.Arg454Cys)	KRT8 (R454C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	Gnot provided
Select item 66528	NM_002273.4(KRT8):c.1300G>A (p.Gly434Ser)	KRT8 (G434S +1 more)	Single nucleotide variant (missense variant +1 more)	KRT8-related disorder +1 more	GBenign
Select item 66527	NM_002273.4(KRT8):c.1261+20G>A	KRT8	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 66526	NM_002273.4(KRT8):c.1261+11del	KRT8	Deletion (intron variant)	not provided	Gnot provided
Select item 66525	NM_002273.4(KRT8):c.1202+46A>T	KRT8	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 66524	NM_002273.4(KRT8):c.1138G>A (p.Val380Ile)	KRT8 (V380I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 66523	NM_002273.4(KRT8):c.1128G>A (p.Glu376=)	KRT8	Single nucleotide variant (synonymous variant +1 more)	not provided	Gnot provided
Select item 66522	NM_002273.4(KRT8):c.1022G>A (p.Arg341His)	KRT8 (R341H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 66521	NM_002273.4(KRT8):c.1021C>T (p.Arg341Cys)	KRT8 (R341C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	Gnot provided
Select item 66537	NM_002273.4(KRT8):c.955G>T (p.Ala319Ser)	KRT8 (A319S +1 more)	Single nucleotide variant (missense variant +1 more)	KRT8-related disorder	GLikely benign
Select item 66535	NM_002273.4(KRT8):c.681A>G (p.Leu227=)	KRT8	Single nucleotide variant (synonymous variant +1 more)	not provided	Gnot provided
Select item 66534	NM_002273.4(KRT8):c.216G>A (p.Leu72=)	KRT8	Single nucleotide variant (synonymous variant +1 more)	not provided	Gnot provided
Select item 66533	NM_002273.4(KRT8):c.187A>G (p.Ile63Val)	KRT8 (I63V +1 more)	Single nucleotide variant (missense variant +1 more)	Inflammatory bowel disease +2 more	GBenign/Likely benign
Select item 14630	NM_002273.4(KRT8):c.184G>T (p.Gly62Cys)	KRT8 (G62C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GBenign/Likely benign
Select item 66532	NM_002273.4(KRT8):c.164G>C (p.Gly55Ala)	KRT8 (G55A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	Gnot provided
Select item 14631	NM_002273.4(KRT8):c.160T>C (p.Tyr54His)	KRT8 (Y54H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GBenign
Select item 66531	NM_002273.4(KRT8):c.158G>T (p.Gly53Val)	KRT8 (G53V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	Gnot provided
Select item 66536	NM_002273.4(KRT8):c.77C>G (p.Thr26Arg)	KRT8 (T26R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	Gnot provided
Select item 66130	NM_000224.3(KRT18):c.-15C>T	KRT18, KRT8 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	Gnot provided
Select item 66133	NM_000224.3(KRT18):c.193_216del (p.Thr65_Ala72del)	KRT18, KRT8 +1 more	Deletion (inframe deletion +1 more)	not provided	Gnot provided
Select item 66134	NM_000224.3(KRT18):c.307A>G (p.Thr103Ala)	KRT18, KRT8 +1 more (T103A)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	Gnot provided
Select item 14585	NM_000224.3(KRT18):c.383A>T (p.His128Leu)	KRT8, LOC106096416 +1 more (H128L)	Single nucleotide variant (non-coding transcript variant +2 more)	Cirrhosis, cryptogenic +1 more	GPathogenic; risk factor

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Items: 26