ClinVar for Gene (Select 3892) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3337243	NM_001320198.2(KRT86):c.382G>C (p.Glu128Gln)	KRT81, KRT86 (E128Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3289590	NM_001320198.2(KRT86):c.692C>T (p.Ala231Val)	KRT81, KRT86 (A231V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3289589	NM_001320198.2(KRT86):c.685G>A (p.Val229Met)	KRT81, KRT86 (V229M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3289588	NM_001320198.2(KRT86):c.998C>T (p.Thr333Met)	KRT81, KRT86 (T333M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3289587	NM_001320198.2(KRT86):c.1342G>C (p.Val448Leu)	KRT81, KRT86 (V448L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3289586	NM_001320198.2(KRT86):c.1117G>A (p.Gly373Ser)	KRT81, KRT86 (G373S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3289585	NM_001320198.2(KRT86):c.1178T>C (p.Met393Thr)	KRT81, KRT86 (M393T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3289584	NM_001320198.2(KRT86):c.869G>A (p.Arg290Gln)	KRT81, KRT86 (R290Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3289583	NM_001320198.2(KRT86):c.764C>T (p.Ser255Leu)	KRT81, KRT86 (S255L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3289582	NM_001320198.2(KRT86):c.661C>T (p.Arg221Cys)	KRT81, KRT86 (R221C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 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 3116792	NM_001320198.2(KRT86):c.893G>T (p.Arg298Leu)	KRT81, KRT86 (R298L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3116791	NM_001320198.2(KRT86):c.863G>A (p.Arg288His)	KRT81, KRT86 (R288H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3116790	NM_001320198.2(KRT86):c.842A>C (p.Gln281Pro)	KRT81, KRT86 (Q281P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3116789	NM_001320198.2(KRT86):c.817T>C (p.Cys273Arg)	KRT81, KRT86 (C273R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3116788	NM_001320198.2(KRT86):c.775G>A (p.Val259Met)	KRT81, KRT86 (V259M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3116787	NM_001320198.2(KRT86):c.742C>T (p.Arg248Cys)	KRT81, KRT86 (R248C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3116786	NM_001320198.2(KRT86):c.728A>C (p.Tyr243Ser)	KRT81, KRT86 (Y243S)	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 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 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 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 3116781	NM_001320198.2(KRT86):c.1457G>A (p.Cys486Tyr)	KRT81, KRT86 (C486Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3116780	NM_001320198.2(KRT86):c.1418C>T (p.Ser473Phe)	KRT81, KRT86 (S473F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3116779	NM_001320198.2(KRT86):c.1367T>A (p.Val456Asp)	KRT81, KRT86 (V456D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3116778	NM_001320198.2(KRT86):c.1261G>A (p.Val421Ile)	KRT81, KRT86 (V421I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 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 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 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 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 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 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 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 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 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 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 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 3063247	GRCh37/hg19 12q13.13(chr12:52654531-52846133)x1	KRT6B, KRT75 +6 more	Copy number loss	not specified	GUncertain significance
Select item 3063245	GRCh37/hg19 12q13.13(chr12:52654531-52847289)x1	KRT6B, KRT75 +6 more	Copy number loss	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 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 3041493	NM_001320198.2(KRT86):c.1280-9C>G	KRT86	Single nucleotide variant (intron variant)	KRT86-related disorder	GLikely benign
Select item 3038944	NM_001320198.2(KRT86):c.*10G>C	KRT86	Single nucleotide variant (3 prime UTR variant)	KRT86-related disorder	GLikely benign
Select item 2643013	NM_001320198.2(KRT86):c.993G>A (p.Arg331=)	KRT86	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2643012	NM_001320198.2(KRT86):c.947G>A (p.Arg316His)	KRT86 (R316H)	Single nucleotide variant (missense variant)	not provided	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 2643010	NM_001320198.2(KRT86):c.-5+10305del	KRT81, KRT86	Deletion (3 prime UTR variant +1 more)	not provided	GBenign
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 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 2590868	NM_001320198.2(KRT86):c.880G>A (p.Glu294Lys)	KRT81, KRT86 (E294K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2589758	NM_001320198.2(KRT86):c.1156A>C (p.Ile386Leu)	KRT81, KRT86 (I386L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2589755	NM_001320198.2(KRT86):c.1160G>A (p.Arg387Lys)	KRT81, KRT86 (R387K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
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 2559800	NM_002281.4(KRT81):c.1474T>A (p.Ser492Thr)	KRT81, KRT86 (S492T)	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 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 2535341	NM_001320198.2(KRT86):c.1148C>A (p.Ala383Asp)	KRT81, KRT86 (A383D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2525425	NM_001320198.2(KRT86):c.1378A>G (p.Ser460Gly)	KRT81, KRT86 (S460G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
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 2490077	NM_001320198.2(KRT86):c.856G>A (p.Val286Ile)	KRT81, KRT86 (V286I)	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 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 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 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 2469427	NM_001320198.2(KRT86):c.1169A>G (p.Gln390Arg)	KRT81, KRT86 (Q390R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 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 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 2392330	NM_001320198.2(KRT86):c.893G>A (p.Arg298His)	KRT81, KRT86 (R298H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 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 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 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 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 2362224	NM_001320198.2(KRT86):c.950G>A (p.Arg317His)	KRT81, KRT86 (R317H)	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 2358419	NM_001320198.2(KRT86):c.1093C>T (p.Arg365Cys)	KRT81, KRT86 (R365C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2352023	NM_001320198.2(KRT86):c.722G>A (p.Arg241Gln)	KRT81, KRT86 (R241Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2350058	NM_001320198.2(KRT86):c.856G>T (p.Val286Phe)	KRT81, KRT86 (V286F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2348184	NM_001320198.2(KRT86):c.862C>T (p.Arg288Cys)	KRT81, KRT86 (R288C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2342425	NM_001320198.2(KRT86):c.743G>T (p.Arg248Leu)	KRT81, KRT86 (R248L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2335717	NM_001320198.2(KRT86):c.1393G>C (p.Gly465Arg)	KRT81, KRT86 (G465R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2326777	NM_001320198.2(KRT86):c.812T>C (p.Met271Thr)	KRT81, KRT86 (M271T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2324352	NM_001320198.2(KRT86):c.878C>A (p.Ala293Asp)	KRT81, KRT86 (A293D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 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 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 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 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 2295774	NM_001320198.2(KRT86):c.690G>C (p.Glu230Asp)	KRT81, KRT86 (E230D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 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 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 2265261	NM_001320198.2(KRT86):c.641A>T (p.Asp214Val)	KRT81, KRT86 (D214V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2223622	NM_001320198.2(KRT86):c.1184C>G (p.Ser395Cys)	KRT81, KRT86 (S395C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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