KRT1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC130008916, LOC130008917 +4836 more	Copy number gain	See cases	GPathogenic
Select item 153751	GRCh38/hg38 12q13.12-13.13(chr12:50122359-53248460)x1	ACVR1B, ACVRL1 +206 more	Copy number loss	See cases	GPathogenic
Select item 152062	GRCh38/hg38 12q13.12-13.13(chr12:50633888-52851909)x1	ACVR1B, ACVRL1 +136 more	Copy number loss	See cases	GPathogenic
Select item 309631	NM_006121.4(KRT1):c.*372G>A	KRT1	Single nucleotide variant (3 prime UTR variant)	Bullous ichthyosiform erythroderma +1 more	GUncertain significance
Select item 309632	NM_006121.4(KRT1):c.*344C>T	KRT1	Single nucleotide variant (3 prime UTR variant)	Bullous ichthyosiform erythroderma +1 more	GBenign
Select item 309633	NM_006121.4(KRT1):c.*275G>A	KRT1	Single nucleotide variant (3 prime UTR variant)	Bullous ichthyosiform erythroderma +1 more	GUncertain significance
Select item 827602	NM_006121.4(KRT1):c.*197T>G	KRT1	Single nucleotide variant (3 prime UTR variant)	Hereditary angioedema with normal C1Inh	Gnot provided
Select item 309634	NM_006121.4(KRT1):c.*95G>A	KRT1	Single nucleotide variant (3 prime UTR variant)	Bullous ichthyosiform erythroderma +1 more	GBenign
Select item 309635	NM_006121.4(KRT1):c.*91T>C	KRT1	Single nucleotide variant (3 prime UTR variant)	Bullous ichthyosiform erythroderma +1 more	GBenign
Select item 883407	NM_006121.4(KRT1):c.*72G>T	KRT1	Single nucleotide variant (3 prime UTR variant)	Diffuse nonepidermolytic palmoplantar keratoderma +1 more	GUncertain significance
Select item 2672142	NM_006121.4(KRT1):c.1912A>T (p.Thr638Ser)	KRT1 (T638S)	Single nucleotide variant (missense variant)	Epidermolytic hyperkeratosis 1	GUncertain significance
Select item 309636	NM_006121.4(KRT1):c.1912A>G (p.Thr638Ala)	KRT1 (T638A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 309637	NM_006121.4(KRT1):c.1898A>G (p.Lys633Arg)	KRT1 (K633R)	Single nucleotide variant (missense variant)	Bullous ichthyosiform erythroderma +2 more	GBenign
Select item 2362901	NM_006121.4(KRT1):c.1894G>A (p.Val632Met)	KRT1 (V632M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 548649	NM_006121.4(KRT1):c.1865dup (p.Val623fs)	KRT1 (V623fs)	Duplication (frameshift variant)	Congenital reticular ichthyosiform erythroderma	GPathogenic
Select item 2709306	NM_006121.4(KRT1):c.1864_1865del (p.Gly622fs)	KRT1 (G622fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1799555	NM_006121.4(KRT1):c.1860dup (p.Gly621fs)	KRT1 (G621fs)	Duplication (frameshift variant)	Ichthyosis hystrix of Curth-Macklin	GPathogenic
Select item 2262477	NM_006121.4(KRT1):c.1853C>T (p.Ser618Phe)	KRT1 (S618F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 795918	NM_006121.4(KRT1):c.1851A>T (p.Gly617=)	KRT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2433261	NM_006121.4(KRT1):c.1847G>A (p.Arg616Gln)	KRT1 (R616Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3116302	NM_006121.4(KRT1):c.1846C>T (p.Arg616Trp)	KRT1 (R616W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2893084	NM_006121.4(KRT1):c.1792_1845del (p.Ser598_Gly615del)	KRT1	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2633076	NM_006121.4(KRT1):c.1824C>G (p.Ser608Arg)	KRT1 (S608R)	Single nucleotide variant (missense variant)	KRT1-related disorder	GUncertain significance
Select item 2433264	NM_006121.4(KRT1):c.1816G>A (p.Gly606Ser)	KRT1 (G606S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2306595	NM_006121.4(KRT1):c.1798G>T (p.Gly600Cys)	KRT1 (G600C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2905698	NM_006121.4(KRT1):c.1789G>A (p.Gly597Ser)	KRT1 (G597S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 817768	NM_006121.4(KRT1):c.1780_1787del (p.Gly594fs)	KRT1 (G594fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 3040950	NM_006121.4(KRT1):c.1782C>T (p.Gly594=)	KRT1	Single nucleotide variant (synonymous variant)	KRT1-related disorder	GLikely benign
Select item 66641	NM_006121.4(KRT1):c.1762A>G (p.Arg588Gly)	KRT1 (R588G)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 15921	NM_006121.4(KRT1):c.1757dup (p.Tyr587fs)	KRT1 (Y587fs)	Duplication (frameshift variant)	Bullous ichthyosiform erythroderma	GPathogenic
Select item 2421192	NM_006121.4(KRT1):c.1753G>T (p.Gly585Trp)	KRT1 (G585W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 66640	NM_006121.4(KRT1):c.1751dup (p.Ser584fs)	KRT1 (S584fs)	Duplication (frameshift variant)	not provided	Gnot provided
Select item 1920057	NM_006121.4(KRT1):c.1611_1691del (p.Gly548_Gly574del)	KRT1	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 66639	NM_006121.4(KRT1):c.1669_1689del (p.Ser557_Gly563del)	KRT1	Deletion (inframe_deletion)	not provided	GBenign
Select item 2433263	NM_006121.4(KRT1):c.1666_1687delinsA (p.Gly556_Gly563delinsSer)	KRT1	Indel (inframe_indel)	not provided	GUncertain significance
Select item 309638	NM_006121.4(KRT1):c.1677C>T (p.Tyr559=)	KRT1	Single nucleotide variant (synonymous variant)	Bullous ichthyosiform erythroderma +1 more	GBenign
Select item 309639	NM_006121.4(KRT1):c.1669A>G (p.Ser557Gly)	KRT1 (S557G)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 881053	NM_006121.4(KRT1):c.1666G>A (p.Gly556Ser)	KRT1 (G556S)	Single nucleotide variant (missense variant)	Diffuse nonepidermolytic palmoplantar keratoderma +2 more	GUncertain significance
Select item 156713	NM_006121.4(KRT1):c.1666G>C (p.Gly556Arg)	KRT1 (G556R)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 1049926	NM_006121.4(KRT1):c.1642G>A (p.Gly548Ser)	KRT1 (G548S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1907698	NM_006121.4(KRT1):c.1638C>T (p.Gly546=)	KRT1	Single nucleotide variant (synonymous variant)	KRT1-related disorder +1 more	GLikely benign
Select item 66638	NM_006121.4(KRT1):c.1628del (p.Gly543fs)	KRT1 (G543fs)	Deletion (frameshift variant)	Keratosis palmoplantaris striata 3	GPathogenic
Select item 15919	NM_006121.4(KRT1):c.1609_1610delinsA (p.Gly537fs)	KRT1 (G537fs)	Indel (frameshift variant)	Ichthyosis hystrix of Curth-Macklin	GPathogenic
Select item 66637	NM_006121.4(KRT1):c.1574_1600del (p.Tyr525_Gly533del)	KRT1	Deletion (inframe_deletion)	not provided	GBenign
Select item 2510127	NM_006121.4(KRT1):c.1577G>T (p.Gly526Val)	KRT1 (G526V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1799556	NM_006121.4(KRT1):c.1577del (p.Gly526fs)	KRT1 (G526fs)	Deletion (frameshift variant)	Ichthyosis hystrix of Curth-Macklin	GPathogenic
Select item 881054	NM_006121.4(KRT1):c.1564G>A (p.Gly522Ser)	KRT1 (G522S)	Single nucleotide variant (missense variant)	Diffuse nonepidermolytic palmoplantar keratoderma +1 more	GUncertain significance
Select item 66636	NM_006121.4(KRT1):c.1556del (p.Gly519fs)	KRT1 (G519fs)	Deletion (frameshift variant)	Ichthyosis hystrix of Curth-Macklin	GPathogenic
Select item 3116301	NM_006121.4(KRT1):c.1543G>A (p.Gly515Ser)	KRT1 (G515S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 309640	NM_006121.4(KRT1):c.1527C>T (p.His509=)	KRT1	Single nucleotide variant (synonymous variant)	Bullous ichthyosiform erythroderma +1 more	GBenign/Likely benign
Select item 881514	NM_006121.4(KRT1):c.1511-11T>C	KRT1	Single nucleotide variant (intron variant)	Diffuse nonepidermolytic palmoplantar keratoderma +1 more	GBenign/Likely benign
Select item 667253	NM_006121.4(KRT1):c.1510+1G>T	KRT1	Single nucleotide variant (splice donor variant)	not specified	GUncertain significance
Select item 309641	NM_006121.4(KRT1):c.1506T>C (p.Ser502=)	KRT1	Single nucleotide variant (synonymous variant)	Bullous ichthyosiform erythroderma +2 more	GBenign
Select item 309642	NM_006121.4(KRT1):c.1482T>C (p.Ser494=)	KRT1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 1624279	NM_006121.4(KRT1):c.1475+16T>C	KRT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 309643	NM_006121.4(KRT1):c.1475+14G>A	KRT1	Single nucleotide variant (intron variant)	Bullous ichthyosiform erythroderma +1 more	GLikely benign
Select item 2992665	NM_006121.4(KRT1):c.1475+6G>A	KRT1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 66635	NM_006121.4(KRT1):c.1469A>G (p.Glu490Gly)	KRT1 (E490G)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 66634	NM_006121.4(KRT1):c.1468G>C (p.Glu490Gln)	KRT1 (E490Q)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 66633	NM_006121.4(KRT1):c.1468G>A (p.Glu490Lys)	KRT1 (E490K)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 66632	NM_006121.4(KRT1):c.1465G>A (p.Glu489Lys)	KRT1 (E489K)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 66631	NM_006121.4(KRT1):c.1457T>G (p.Leu486Arg)	KRT1 (L486R)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 66630	NM_006121.4(KRT1):c.1457T>C (p.Leu486Pro)	KRT1 (L486P)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 2771357	NM_006121.4(KRT1):c.1454T>A (p.Leu485His)	KRT1 (L485H)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 66629	NM_006121.4(KRT1):c.1454T>C (p.Leu485Pro)	KRT1 (L485P)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 432078	NM_006121.4(KRT1):c.1453C>T (p.Leu485Phe)	KRT1 (L485F)	Single nucleotide variant (missense variant)	Bullous ichthyosiform erythroderma +6 more	GPathogenic/Likely pathogenic
Select item 3116299	NM_006121.4(KRT1):c.1447A>G (p.Arg483Gly)	KRT1 (R483G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 15909	NM_006121.4(KRT1):c.1445A>G (p.Tyr482Cys)	KRT1 (Y482C)	Single nucleotide variant (missense variant)	Bullous ichthyosiform erythroderma	GPathogenic
Select item 3046666	NM_006121.4(KRT1):c.1443C>A (p.Thr481=)	KRT1	Single nucleotide variant (synonymous variant)	KRT1-related disorder	GLikely benign
Select item 66628	NM_006121.4(KRT1):c.1441A>C (p.Thr481Pro)	KRT1 (T481P)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 15911	NM_006121.4(KRT1):c.1436T>C (p.Ile479Thr)	KRT1 (I479T)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 15912	NM_006121.4(KRT1):c.1435A>T (p.Ile479Phe)	KRT1 (I479F)	Single nucleotide variant (missense variant)	Ichthyosis, annular epidermolytic, 2	GPathogenic
Select item 391788	NM_006121.4(KRT1):c.1434G>C (p.Glu478Asp)	KRT1 (E478D)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 66627	NM_006121.4(KRT1):c.1434G>T (p.Glu478Asp)	KRT1 (E478D)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 1698955	NM_006121.4(KRT1):c.1433A>G (p.Glu478Gly)	KRT1 (E478G)	Single nucleotide variant (missense variant)	Bullous ichthyosiform erythroderma	GPathogenic
Select item 66626	NM_006121.4(KRT1):c.1432G>C (p.Glu478Gln)	KRT1 (E478Q)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 66625	NM_006121.4(KRT1):c.1432G>A (p.Glu478Lys)	KRT1 (E478K)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 15915	NM_006121.4(KRT1):c.1424T>C (p.Leu475Pro)	KRT1 (L475P)	Single nucleotide variant (missense variant)	KRT1-related disorder	GUncertain significance
Select item 1600797	NM_006121.4(KRT1):c.1413A>C (p.Thr471=)	KRT1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 66624	NM_006121.4(KRT1):c.1413= (p.Thr471=)	KRT1	Single nucleotide variant (no sequence alteration)	not provided	GBenign
Select item 66622	NM_006121.4(KRT1):c.1376_1399del (p.Ala459_Gln466del)	KRT1	Deletion (inframe_deletion)	Diffuse nonepidermolytic palmoplantar keratoderma	GPathogenic
Select item 1722918	NM_006121.4(KRT1):c.1397A>G (p.Gln466Arg)	KRT1 (Q466R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 66623	NM_006121.4(KRT1):c.1389C>T (p.Arg463=)	KRT1	Single nucleotide variant (synonymous variant)	Diffuse nonepidermolytic palmoplantar keratoderma +2 more	GBenign
Select item 2433265	NM_006121.4(KRT1):c.1378C>T (p.Arg460Cys)	KRT1 (R460C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3116298	NM_006121.4(KRT1):c.1376C>T (p.Ala459Val)	KRT1 (A459V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 66621	NM_006121.4(KRT1):c.1360G>T (p.Ala454Ser)	KRT1 (A454S)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 883452	NM_006121.4(KRT1):c.1358A>C (p.Gln453Pro)	KRT1 (Q453P)	Single nucleotide variant (missense variant)	Diffuse nonepidermolytic palmoplantar keratoderma +1 more	GUncertain significance
Select item 432177	NM_006121.4(KRT1):c.1349C>A (p.Ala450Asp)	KRT1 (A450D)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1384073	NM_006121.4(KRT1):c.1309_1320dup (p.Leu437_Ala440dup)	KRT1	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 1805617	NM_006121.4(KRT1):c.1318G>A (p.Ala440Thr)	KRT1 (A440T)	Single nucleotide variant (missense variant)	Diffuse nonepidermolytic palmoplantar keratoderma	GUncertain significance
Select item 66620	NM_006121.4(KRT1):c.1310T>C (p.Leu437Pro)	KRT1 (L437P)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2433262	NM_006121.4(KRT1):c.1307C>A (p.Ala436Asp)	KRT1 (A436D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2717630	NM_006121.4(KRT1):c.1295G>A (p.Arg432His)	KRT1 (R432H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 883453	NM_006121.4(KRT1):c.1294C>T (p.Arg432Cys)	KRT1 (R432C)	Single nucleotide variant (missense variant)	Diffuse nonepidermolytic palmoplantar keratoderma +2 more	GBenign/Likely benign
Select item 66619	NM_006121.4(KRT1):c.1254+1G>A	KRT1	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 765611	NM_006121.4(KRT1):c.1236C>T (p.Ile412=)	KRT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2032598	NM_006121.4(KRT1):c.1228T>C (p.Ser410Pro)	KRT1 (S410P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3116296	NM_006121.4(KRT1):c.1187T>C (p.Ile396Thr)	KRT1 (I396T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3049122	NM_006121.4(KRT1):c.1137G>A (p.Glu379=)	KRT1	Single nucleotide variant (synonymous variant)	KRT1-related disorder	GLikely benign
Select item 2994282	NM_006121.4(KRT1):c.1129-15A>G	KRT1	Single nucleotide variant (intron variant)	not provided	GLikely benign

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