ClinVar for Gene (Select 3848) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3358571	NM_006121.4(KRT1):c.1786G>A (p.Gly596Ser)	KRT1 (G596S)	Single nucleotide variant (missense variant)	KRT1-related disorder	GUncertain significance
Select item 3351202	NM_006121.4(KRT1):c.144C>T (p.Ser48=)	KRT1	Single nucleotide variant (synonymous variant)	KRT1-related disorder	GLikely benign
Select item 3348019	NM_006121.4(KRT1):c.-8A>C	KRT1	Single nucleotide variant (5 prime UTR variant)	KRT1-related disorder	GLikely benign
Select item 3337242	NM_006121.4(KRT1):c.350G>T (p.Gly117Val)	KRT1 (G117V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3337241	NM_006121.4(KRT1):c.1036G>A (p.Asp346Asn)	KRT1 (D346N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3289327	NM_006121.4(KRT1):c.253G>A (p.Gly85Arg)	KRT1 (G85R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3289326	NM_006121.4(KRT1):c.1088A>G (p.Gln363Arg)	KRT1 (Q363R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3289325	NM_006121.4(KRT1):c.1092G>T (p.Lys364Asn)	KRT1 (K364N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3289324	NM_006121.4(KRT1):c.1741G>A (p.Gly581Arg)	KRT1 (G581R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3289322	NM_006121.4(KRT1):c.778C>A (p.Gln260Lys)	KRT1 (Q260K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3289321	NM_006121.4(KRT1):c.1303A>G (p.Asn435Asp)	KRT1 (N435D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3253565	NM_006121.4(KRT1):c.485T>C (p.Leu162Pro)	KRT1 (L162P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3116303	NM_006121.4(KRT1):c.226A>C (p.Ile76Leu)	KRT1 (I76L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 3116301	NM_006121.4(KRT1):c.1543G>A (p.Gly515Ser)	KRT1 (G515S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3116300	NM_006121.4(KRT1):c.152G>C (p.Gly51Ala)	KRT1 (G51A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3116298	NM_006121.4(KRT1):c.1376C>T (p.Ala459Val)	KRT1 (A459V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 3046666	NM_006121.4(KRT1):c.1443C>A (p.Thr481=)	KRT1	Single nucleotide variant (synonymous variant)	KRT1-related disorder	GLikely benign
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 3027356	NM_006121.4(KRT1):c.481C>T (p.Leu161Phe)	KRT1 (L161F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3018934	NM_006121.4(KRT1):c.751C>T (p.Arg251Trp)	KRT1 (R251W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2994282	NM_006121.4(KRT1):c.1129-15A>G	KRT1	Single nucleotide variant (intron variant)	not provided	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 2990617	NM_006121.4(KRT1):c.106A>G (p.Thr36Ala)	KRT1 (T36A)	Single nucleotide variant (missense variant)	not provided	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 2893084	NM_006121.4(KRT1):c.1792_1845del (p.Ser598_Gly615del)	KRT1	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2880150	NM_006121.4(KRT1):c.840A>G (p.Ala280=)	KRT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2850976	NM_006121.4(KRT1):c.1114T>C (p.Leu372=)	KRT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2818584	NM_006121.4(KRT1):c.604G>A (p.Glu202Lys)	KRT1 (E202K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2738351	NM_006121.4(KRT1):c.761C>T (p.Ser254Leu)	KRT1 (S254L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 2716655	NM_006121.4(KRT1):c.194G>A (p.Arg65Gln)	KRT1 (R65Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2714152	NM_006121.4(KRT1):c.132G>C (p.Gly44=)	KRT1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2711426	NM_006121.4(KRT1):c.302G>C (p.Gly101Ala)	KRT1 (G101A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2709306	NM_006121.4(KRT1):c.1864_1865del (p.Gly622fs)	KRT1 (G622fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2672143	NM_006121.4(KRT1):c.655G>T (p.Asp219Tyr)	KRT1 (D219Y)	Single nucleotide variant (missense variant)	Ichthyosis	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 2664090	NM_006121.4(KRT1):c.560T>C (p.Leu187Pro)	KRT1 (L187P)	Single nucleotide variant (missense variant)	Epidermolytic hyperkeratosis 1	GPathogenic
Select item 2643033	NM_006121.4(KRT1):c.20C>T (p.Ser7Phe)	KRT1 (S7F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2643032	NM_006121.4(KRT1):c.393A>T (p.Gly131=)	KRT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2604422	NM_006121.4(KRT1):c.470T>C (p.Ile157Thr)	KRT1 (I157T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2602562	NM_006121.4(KRT1):c.497A>G (p.Asn166Ser)	KRT1 (N166S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2591218	NM_006121.4(KRT1):c.956A>G (p.Tyr319Cys)	KRT1 (Y319C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2579544	NM_006121.4(KRT1):c.790G>C (p.Glu264Gln)	KRT1 (E264Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2551418	NM_006121.4(KRT1):c.449G>C (p.Gly150Ala)	KRT1 (G150A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2510029	NM_006121.4(KRT1):c.409G>T (p.Gly137Cys)	KRT1 (G137C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2485933	NM_006121.4(KRT1):c.83A>G (p.Gln28Arg)	KRT1 (Q28R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2455644	NM_006121.4(KRT1):c.452G>A (p.Gly151Asp)	KRT1 (G151D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2441024	NM_006121.4(KRT1):c.806+1G>A	KRT1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
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 2433264	NM_006121.4(KRT1):c.1816G>A (p.Gly606Ser)	KRT1 (G606S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2433263	NM_006121.4(KRT1):c.1666_1687delinsA (p.Gly556_Gly563delinsSer)	KRT1	Indel (inframe_indel)	not provided	GUncertain significance
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 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 2421192	NM_006121.4(KRT1):c.1753G>T (p.Gly585Trp)	KRT1 (G585W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2416676	NM_006121.4(KRT1):c.78C>T (p.Asn26=)	KRT1	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 2406495	NM_006121.4(KRT1):c.320G>C (p.Gly107Ala)	KRT1 (G107A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2386753	NM_006121.4(KRT1):c.533C>A (p.Ser178Tyr)	KRT1 (S178Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2306595	NM_006121.4(KRT1):c.1798G>T (p.Gly600Cys)	KRT1 (G600C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2303841	NM_006121.4(KRT1):c.316G>A (p.Gly106Ser)	KRT1 (G106S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2285008	NM_006121.4(KRT1):c.568C>A (p.Gln190Lys)	KRT1 (Q190K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2275560	NM_006121.4(KRT1):c.1108G>C (p.Glu370Gln)	KRT1 (E370Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2256834	NM_006121.4(KRT1):c.340A>T (p.Ile114Phe)	KRT1 (I114F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2254172	NM_006121.4(KRT1):c.1120C>G (p.Gln374Glu)	KRT1 (Q374E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2098673	NM_006121.4(KRT1):c.584T>A (p.Ile195Asn)	KRT1 (I195N)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2072350	NM_006121.4(KRT1):c.314G>T (p.Gly105Val)	KRT1 (G105V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2057106	NM_006121.4(KRT1):c.10C>G (p.Gln4Glu)	KRT1 (Q4E)	Single nucleotide variant (missense variant)	not provided	GBenign
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 1920057	NM_006121.4(KRT1):c.1611_1691del (p.Gly548_Gly574del)	KRT1	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1907698	NM_006121.4(KRT1):c.1638C>T (p.Gly546=)	KRT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1895842	NM_006121.4(KRT1):c.963+12A>T	KRT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1808850	GRCh37/hg19 12q13.13(chr12:52914324-53250644)x3	KRT1, KRT2 +10 more	Copy number gain	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 1805520	NM_006121.4(KRT1):c.48_49insAC (p.Phe17fs)	KRT1 (F17fs)	Insertion (frameshift variant)	Diffuse nonepidermolytic palmoplantar keratoderma	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 1799555	NM_006121.4(KRT1):c.1860dup (p.Gly621fs)	KRT1 (G621fs)	Duplication (frameshift variant)	Ichthyosis hystrix of Curth-Macklin	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 1698955	NM_006121.4(KRT1):c.1433A>G (p.Glu478Gly)	KRT1 (E478G)	Single nucleotide variant (missense variant)	Epidermolytic hyperkeratosis 1	GPathogenic
Select item 1624279	NM_006121.4(KRT1):c.1475+16T>C	KRT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1623864	NM_006121.4(KRT1):c.867+7A>G	KRT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1622241	NM_006121.4(KRT1):c.1128+7G>A	KRT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1600797	NM_006121.4(KRT1):c.1413A>C (p.Thr471=)	KRT1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1566648	NM_006121.4(KRT1):c.935T>C (p.Ile312Thr)	KRT1 (I312T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1510071	NM_006121.4(KRT1):c.1018G>C (p.Asp340His)	KRT1 (D340H)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1386004	NM_006121.4(KRT1):c.284G>T (p.Gly95Val)	KRT1 (G95V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1384073	NM_006121.4(KRT1):c.1309_1320dup (p.Leu437_Ala440dup)	KRT1	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 1352039	NM_006121.4(KRT1):c.1012T>C (p.Ser338Pro)	KRT1 (S338P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1339265	NM_006121.4(KRT1):c.563A>T (p.Asn188Ile)	KRT1 (N188I)	Single nucleotide variant (missense variant)	Epidermolytic ichthyosis	GLikely pathogenic
Select item 1324634	NM_006121.4(KRT1):c.793_806+1del	KRT1	Deletion (splice donor variant)	not provided	GLikely pathogenic
Select item 1306753	NM_006121.4(KRT1):c.723_740del (p.Arg241_Lys246del)	KRT1	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1291790	NM_006121.4(KRT1):c.592-147A>G	KRT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271017	NM_006121.4(KRT1):c.964-74T>C	KRT1	Single nucleotide variant (intron variant)	not provided	GBenign

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