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

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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)	KRT18, KRT8 +1 more (H128L)	Single nucleotide variant (non-coding transcript variant +2 more)	Cirrhosis, cryptogenic +1 more	GPathogenic; risk factor
Select item 66135	NM_000224.3(KRT18):c.418-4C>G	KRT18, LOC106096416	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 66136	NM_000224.3(KRT18):c.448A>G (p.Ile150Val)	KRT18, LOC106096416 (I150V)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 66137	NM_000224.3(KRT18):c.500+38G>A	KRT18, LOC106096416	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 66138	NM_000224.3(KRT18):c.689G>C (p.Ser230Thr)	KRT18, LOC106096416 (S230T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 66139	NM_000224.3(KRT18):c.782G>A (p.Arg261Gln)	KRT18, LOC106096416 (R261Q)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 66140	NM_000224.3(KRT18):c.827A>G (p.Glu276Gly)	KRT18, LOC106096416 (E276G)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 66141	NM_000224.3(KRT18):c.854A>G (p.Gln285Arg)	KRT18, LOC106096416 (Q285R)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 66142	NM_000224.3(KRT18):c.884C>T (p.Thr295Met)	KRT18, LOC106096416 (T295M)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 66143	NM_000224.3(KRT18):c.890C>T (p.Thr297Ile)	KRT18, LOC106096416 (T297I)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 66144	NM_000224.3(KRT18):c.993C>T (p.Tyr331=)	KRT18, LOC106096416	Single nucleotide variant (synonymous variant)	not provided	Gnot provided
Select item 66131	NM_000224.3(KRT18):c.1018G>A (p.Gly340Arg)	KRT18, LOC106096416 (G340R)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 66132	NM_000224.3(KRT18):c.1232G>A (p.Arg411His)	KRT18, LOC106096416 (R411H)	Single nucleotide variant (missense variant)	not provided	Gnot provided