KRT8[gene] - ClinVar

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Items: 75

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC126861648, LOC126861649 +4836 more	Copy number gain	See cases	GPathogenic
Select item 153751	GRCh38/hg38 12q13.12-13.13(chr12:50122359-53248460)x1	ACVRL1, ANKRD33 +206 more	Copy number loss	See cases	GPathogenic
Select item 149659	GRCh38/hg38 12q13.13(chr12:52748391-52950618)x3	KRT18, KRT3 +15 more	Copy number gain	See cases	GLikely benign
Select item 148968	GRCh38/hg38 12q13.13(chr12:52851850-53558824)x3	AAAS, AMHR2 +85 more	Copy number gain	See cases	GLikely pathogenic
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 713128	NM_002273.4(KRT8):c.1438G>A (p.Val480Ile)	KRT8 (V480I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 56170	NM_002273.4(KRT8):c.1412G>A (p.Gly471Glu)	KRT8 (G471E +1 more)	Single nucleotide variant (missense variant +1 more)	Hepatitis C virus, susceptibility to	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 3025808	NM_002273.4(KRT8):c.1356C>T (p.Phe452=)	KRT8	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 56169	NM_002273.4(KRT8):c.1340C>T (p.Ala447Val)	KRT8 (A447V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2396856	NM_002273.4(KRT8):c.1334C>G (p.Ser445Cys)	KRT8 (S473C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 765612	NM_002273.4(KRT8):c.1305C>T (p.Leu435=)	KRT8	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 condition +1 more	GBenign
Select item 1192140	NM_002273.4(KRT8):c.1265G>T (p.Gly422Val)	KRT8 (G422V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 787398	NM_002273.4(KRT8):c.1261+9C>T	KRT8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 66525	NM_002273.4(KRT8):c.1202+46A>T	KRT8	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 1032045	NM_002273.4(KRT8):c.1202+1G>A	KRT8	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2516343	NM_002273.4(KRT8):c.1174A>G (p.Arg392Gly)	KRT8 (R420G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 2258832	NM_002273.4(KRT8):c.1051G>A (p.Ala351Thr)	KRT8 (A351T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 56168	NM_002273.4(KRT8):c.1033G>T (p.Ala345Ser)	KRT8 (A345S +1 more)	Single nucleotide variant (missense variant +1 more)	Hepatitis C virus, susceptibility to	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 3033878	NM_002273.4(KRT8):c.1014C>T (p.Ala338=)	KRT8	Single nucleotide variant (synonymous variant +1 more)	KRT8-related condition	GLikely benign
Select item 2601828	NM_002273.4(KRT8):c.1000G>A (p.Ala334Thr)	KRT8 (A334T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 768552	NM_002273.4(KRT8):c.999C>T (p.Ala333=)	KRT8	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
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 condition	GLikely benign
Select item 2548539	NM_002273.4(KRT8):c.930G>T (p.Met310Ile)	KRT8 (M310I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 2398297	NM_002273.4(KRT8):c.625G>A (p.Glu209Lys)	KRT8 (E209K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3035440	NM_002273.4(KRT8):c.573C>T (p.Asn191=)	KRT8	Single nucleotide variant (synonymous variant +1 more)	KRT8-related condition	GLikely benign
Select item 2486736	NM_002273.4(KRT8):c.572A>G (p.Asn191Ser)	KRT8 (N219S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2411183	NM_002273.4(KRT8):c.556C>G (p.Arg186Gly)	KRT8 (R186G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2621684	NM_002273.4(KRT8):c.475C>A (p.Leu159Met)	KRT8 (L159M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2237573	NM_002273.4(KRT8):c.439C>G (p.Leu147Val)	KRT8 (L147V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 1309232	NM_002273.4(KRT8):c.161A>G (p.Tyr54Cys)	KRT8 (Y54C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 2592081	NM_002273.4(KRT8):c.95G>C (p.Arg32Pro)	KRT8 (R60P +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 712604	NM_002273.4(KRT8):c.87C>T (p.Pro29=)	KRT8	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 2610858	NM_002273.4(KRT8):c.49C>T (p.Pro17Ser)	KRT8 (P17S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2541198	NM_002273.4(KRT8):c.25T>G (p.Ser9Ala)	KRT8 (S9A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1276175	NM_002273.4(KRT8):c.-4T>C	KRT8	Single nucleotide variant (synonymous variant +2 more)	KRT8-related condition +1 more	GBenign
Select item 3057189	NM_002273.4(KRT8):c.-10T>A	KRT8	Single nucleotide variant (synonymous variant +2 more)	KRT8-related condition	GBenign
Select item 3052199	NM_002273.4(KRT8):c.-29G>A	KRT8 (G19D)	Single nucleotide variant (missense variant +2 more)	KRT8-related condition	GLikely benign
Select item 1259897	NM_001256282.2(KRT8):c.39-2208G>A	KRT8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 66130	NM_000224.3(KRT18):c.-15C>T	KRT8, LOC106096416 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	Gnot provided
Select item 2643037	NM_000224.3(KRT18):c.57C>T (p.Val19=)	KRT18, KRT8 +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2227061	NM_000224.3(KRT18):c.107A>C (p.Tyr36Ser)	LOC106096416, KRT18 +1 more (Y36S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 56167	NM_000224.3(KRT18):c.134G>C (p.Arg45Pro)	KRT8, LOC106096416 +1 more (R45P)	Single nucleotide variant (missense variant +1 more)	Hepatitis C virus, susceptibility to	Gnot provided
Select item 1301593	NM_000224.3(KRT18):c.174_175insA (p.Gly59fs)	KRT18, KRT8 +1 more (G59fs)	Insertion (frameshift variant +1 more)	not specified	GBenign
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 1029724	NM_000224.3(KRT18):c.206G>C (p.Gly69Ala)	KRT18, KRT8 +1 more (G69A)	Single nucleotide variant (missense variant +1 more)	Cirrhosis, familial	GUncertain significance
Select item 1205845	NM_000224.3(KRT18):c.268C>T (p.Arg90Cys)	KRT8, LOC106096416 +1 more (R90C)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GBenign/Likely benign
Select item 1205843	NM_000224.3(KRT18):c.274G>C (p.Ala92Pro)	LOC106096416, KRT18 +1 more (A92P)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GBenign/Likely benign
Select item 56166	NM_000224.3(KRT18):c.282C>T (p.Tyr94=)	KRT18, KRT8 +1 more	Single nucleotide variant (synonymous variant +1 more)	Hepatitis C virus, susceptibility to	Gnot provided
Select item 1205851	NM_000224.3(KRT18):c.300C>G (p.Ser100Arg)	KRT18, KRT8 +1 more (S100R)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified +1 more	GBenign/Likely benign
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 2512354	NM_000224.3(KRT18):c.356A>G (p.Lys119Arg)	KRT18, KRT8 +1 more (K119R)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
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 524190	NC_000012.11:g.26370251_54361538inv	AAAS, ABCD2 +212 more	Inversion	not specified	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	HMGA2, HNF1A +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	AGAP2, ARF3 +1007 more	Copy number gain	See cases	GPathogenic

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Items: 75