KRT86[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	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 153751	GRCh38/hg38 12q13.12-13.13(chr12:50122359-53248460)x1	LOC130007898, LOC130007899 +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 1253561	NM_002281.4(KRT81):c.*102G>C	KRT81, KRT86	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1273289	NM_002281.4(KRT81):c.*31A>G	KRT81, KRT86	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 2643010	NM_001320198.2(KRT86):c.-5+10305del	KRT81, KRT86	Deletion (3 prime UTR variant +1 more)	not provided	GBenign
Select item 2388207	NM_002281.4(KRT81):c.1508G>A (p.Arg503Gln)	KRT81, KRT86 (R503Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3289559	NM_002281.4(KRT81):c.1484T>C (p.Val495Ala)	KRT81, KRT86 (V495A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2559800	NM_002281.4(KRT81):c.1474T>A (p.Ser492Thr)	KRT86, KRT81 (S492T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2287118	NM_002281.4(KRT81):c.1473C>A (p.Ser491Arg)	KRT81, KRT86 (S491R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2316635	NM_002281.4(KRT81):c.1460C>G (p.Ser487Cys)	KRT81, KRT86 (S487C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1701200	NM_002281.4(KRT81):c.1453G>A (p.Val485Met)	KRT81, KRT86 (V485M)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3116721	NM_002281.4(KRT81):c.1442G>C (p.Gly481Ala)	KRT81, KRT86 (G481A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3116720	NM_002281.4(KRT81):c.1424A>C (p.Asn475Thr)	KRT81, KRT86 (N475T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2378241	NM_002281.4(KRT81):c.1396G>A (p.Gly466Ser)	KRT81, KRT86 (G466S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3050009	NM_002281.4(KRT81):c.1395C>T (p.Thr465=)	KRT81, KRT86	Single nucleotide variant (synonymous variant +1 more)	KRT81-related disorder	GLikely benign
Select item 3116719	NM_002281.4(KRT81):c.1385C>A (p.Ala462Glu)	KRT81, KRT86 (A462E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1264106	NM_002281.4(KRT81):c.1385C>T (p.Ala462Val)	KRT81, KRT86 (A462V)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3116718	NM_002281.4(KRT81):c.1382T>C (p.Val461Ala)	KRT81, KRT86 (V461A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2478264	NM_002281.4(KRT81):c.1374C>G (p.Asn458Lys)	KRT81, KRT86 (N458K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3116717	NM_002281.4(KRT81):c.1367C>A (p.Pro456Gln)	KRT81, KRT86 (P456Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2604423	NM_002281.4(KRT81):c.1354G>C (p.Val452Leu)	KRT81, KRT86 (V452L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3116716	NM_002281.4(KRT81):c.1337G>A (p.Arg446Gln)	KRT81, KRT86 (R446Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2391740	NM_002281.4(KRT81):c.1324G>A (p.Val442Met)	KRT81, KRT86 (V442M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3052370	NM_002281.4(KRT81):c.1312G>A (p.Gly438Arg)	KRT81, KRT86 (G438R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3116715	NM_002281.4(KRT81):c.1307T>G (p.Val436Gly)	KRT81, KRT86 (V436G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3116714	NM_002281.4(KRT81):c.1298G>C (p.Gly433Ala)	KRT81, KRT86 (G433A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1224979	NM_002281.4(KRT81):c.1247+120C>T	KRT81, KRT86	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 7501	NM_002281.4(KRT81):c.1237G>A (p.Glu413Lys)	KRT81, KRT86 (E413K)	Single nucleotide variant (missense variant +1 more)	Beaded hair	GPathogenic
Select item 7502	NM_002281.4(KRT81):c.1204G>A (p.Glu402Lys)	KRT81, KRT86 (E402K)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 2602098	NM_002281.4(KRT81):c.1093C>T (p.Arg365Cys)	KRT81, KRT86 (R365C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1257332	NM_002281.4(KRT81):c.1077G>A (p.Ala359=)	KRT81, KRT86	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1178574	NM_002281.4(KRT81):c.1053C>T (p.Ala351=)	KRT81, KRT86	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2322687	NM_002281.4(KRT81):c.1045G>A (p.Ala349Thr)	KRT81, KRT86 (A349T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2298630	NM_002281.4(KRT81):c.1034A>G (p.Lys345Arg)	KRT81, KRT86 (K345R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1204430	NM_002281.4(KRT81):c.1027-51T>C	KRT81, KRT86	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1229736	NM_002281.4(KRT81):c.1026+98A>G	KRT81, KRT86	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3116713	NM_002281.4(KRT81):c.1006G>T (p.Val336Leu)	KRT81, KRT86 (V336L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1220978	NM_002281.4(KRT81):c.990A>G (p.Gln330=)	KRT81, KRT86	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3116727	NM_002281.4(KRT81):c.979C>T (p.Arg327Cys)	KRT81, KRT86 (R327C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1265534	NM_002281.4(KRT81):c.969T>C (p.Asn323=)	KRT81, KRT86	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2580774	NM_002281.4(KRT81):c.949C>T (p.Arg317Cys)	KRT81, KRT86 (R317C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3116726	NM_002281.4(KRT81):c.947G>A (p.Arg316His)	KRT81, KRT86 (R316H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1275631	NM_002281.4(KRT81):c.946C>T (p.Arg316Cys)	KRT81, KRT86 (R316C)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign/Likely benign
Select item 1274144	NM_002281.4(KRT81):c.901-28A>G	KRT81, KRT86	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278097	NM_002281.4(KRT81):c.900+54A>G	KRT81, KRT86	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277463	NM_002281.4(KRT81):c.900+35T>G	KRT81, KRT86	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3116725	NM_002281.4(KRT81):c.892C>T (p.Arg298Cys)	KRT81, KRT86 (R298C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2485564	NM_002281.4(KRT81):c.880G>A (p.Glu294Lys)	KRT81, KRT86 (E294K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2536751	NM_002281.4(KRT81):c.869G>A (p.Arg290Gln)	KRT81, KRT86 (R290Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3289558	NM_002281.4(KRT81):c.850G>A (p.Asp284Asn)	KRT81, KRT86 (D284N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 561048	NM_002281.4(KRT81):c.846T>A (p.Tyr282Ter)	KRT81, KRT86 (Y282*)	Single nucleotide variant (nonsense +1 more)	Beaded hair +1 more	GConflicting classifications of pathogenicity
Select item 3116724	NM_002281.4(KRT81):c.810C>A (p.Asn270Lys)	KRT81, KRT86 (N270K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3116723	NM_002281.4(KRT81):c.760A>G (p.Ile254Val)	KRT81, KRT86 (I254V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1279580	NM_002281.4(KRT81):c.743T>G (p.Leu248Arg)	KRT81, KRT86 (L248R)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3116722	NM_002281.4(KRT81):c.739A>G (p.Ile247Val)	KRT81, KRT86 (I247V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1180408	NM_002281.4(KRT81):c.736-36A>G	KRT81, KRT86	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 66545	NM_002281.4(KRT81):c.735+4C>T	KRT86, KRT81	Single nucleotide variant (intron variant)	Beaded hair +1 more	GBenign
Select item 2454697	NM_002281.4(KRT81):c.655T>G (p.Tyr219Asp)	KRT81, KRT86 (Y219D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2538236	NM_002281.4(KRT81):c.652G>A (p.Ala218Thr)	KRT81, KRT86 (A218T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2485491	NM_002281.4(KRT81):c.640G>A (p.Asp214Asn)	KRT81, KRT86 (D214N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1195769	NM_002281.4(KRT81):c.579-288G>A	KRT81, KRT86	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1202226	NM_002281.4(KRT81):c.416A>C (p.Gln139Pro)	KRT81, KRT86 (Q139P)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1197650	NM_002281.4(KRT81):c.370-9G>A	KRT81, KRT86	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1194898	NM_002281.4(KRT81):c.370-260_370-259insT	KRT81, KRT86	Insertion (intron variant)	not provided	GLikely benign
Select item 1223403	NM_002281.4(KRT81):c.297G>A (p.Ala99=)	KRT81, KRT86	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2317899	NM_002281.4(KRT81):c.241G>T (p.Val81Leu)	KRT81, KRT86 (V81L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2214246	NM_002281.4(KRT81):c.190G>A (p.Gly64Ser)	KRT81, KRT86 (G64S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2643011	NM_002281.4(KRT81):c.138C>T (p.Gly46=)	KRT81, KRT86	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2363999	NM_002281.4(KRT81):c.136G>C (p.Gly46Arg)	KRT81, KRT86 (G46R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 502117	NM_002281.4(KRT81):c.131del (p.Gly44fs)	KRT81, KRT86 (G44fs)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 1217743	NM_002281.4(KRT81):c.60G>C (p.Pro20=)	KRT81, KRT86	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1222198	NM_002281.4(KRT81):c.37A>C (p.Ser13Arg)	KRT81, KRT86 (S13R)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2310216	NM_002281.4(KRT81):c.28C>T (p.Arg10Cys)	KRT81, KRT86 (R10C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2433271	NM_002281.4(KRT81):c.2T>G (p.Met1Arg)	KRT81, KRT86 (M1R)	Single nucleotide variant (missense variant +2 more)	Beaded hair	GUncertain significance
Select item 1277634	NC_000012.12:g.52291649C>G	KRT81, KRT86	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1198484	NC_000012.12:g.52291729G>T	KRT81, KRT86	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1286726	NC_000012.12:g.52291761C>T	KRT81, KRT86	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267877	NM_001320198.2(KRT86):c.-4-67C>T	KRT86	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248361	NM_001320198.2(KRT86):c.54C>T (p.Cys18=)	KRT86	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1219942	NM_001320198.2(KRT86):c.60C>G (p.Pro20=)	KRT86	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1229890	NM_001320198.2(KRT86):c.87C>T (p.Ala29=)	KRT86	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2281040	NM_001320198.2(KRT86):c.136G>A (p.Gly46Ser)	KRT81, KRT86 (G46S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2361519	NM_001320198.2(KRT86):c.148G>A (p.Val50Met)	KRT81, KRT86 (V50M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2512285	NM_001320198.2(KRT86):c.161T>C (p.Phe54Ser)	KRT81, KRT86 (F54S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3116782	NM_001320198.2(KRT86):c.163C>T (p.Arg55Trp)	KRT81, KRT86 (R55W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3116783	NM_001320198.2(KRT86):c.169G>T (p.Gly57Cys)	KRT81, KRT86 (G57C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 66547	NM_001320198.2(KRT86):c.197G>A (p.Arg66His)	KRT86 (R66H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3116784	NM_001320198.2(KRT86):c.206G>A (p.Gly69Asp)	KRT81, KRT86 (G69D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3116785	NM_001320198.2(KRT86):c.224C>T (p.Pro75Leu)	KRT81, KRT86 (P75L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2407201	NM_001320198.2(KRT86):c.226C>G (p.Pro76Ala)	KRT81, KRT86 (P76A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2372861	NM_001320198.2(KRT86):c.232A>T (p.Ile78Phe)	KRT81, KRT86 (I78F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2489274	NM_001320198.2(KRT86):c.242T>C (p.Val81Ala)	KRT81, KRT86 (V81A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2285880	NM_001320198.2(KRT86):c.311A>C (p.Gln104Pro)	KRT81, KRT86 (Q104P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 66548	NM_001320198.2(KRT86):c.340A>C (p.Asn114His)	KRT81, KRT86 (N114H)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 7612	NM_001320198.2(KRT86):c.340A>G (p.Asn114Asp)	KRT86, KRT81 (N114D)	Single nucleotide variant (missense variant)	Beaded hair	GPathogenic
Select item 66549	NM_001320198.2(KRT86):c.348G>A (p.Arg116=)	KRT86	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 7614	NM_001320198.2(KRT86):c.353C>A (p.Ala118Glu)	KRT86, KRT81 (A118E)	Single nucleotide variant (missense variant)	Beaded hair	GPathogenic
Select item 1279587	NM_001320198.2(KRT86):c.370-249dup	KRT81, KRT86	Duplication (intron variant)	not provided	GBenign
Select item 1239998	NM_001320198.2(KRT86):c.370-250_370-249dup	KRT81, KRT86	Duplication (intron variant)	not provided	GBenign

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