Related gene-specific medical variations for Gene (Select 3892) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3052370	NM_002281.4(KRT81):c.1312G>A (p.Gly438Arg)	KRT81, KRT86 (G438R)	Single nucleotide variant (missense variant +1 more)	KRT81-related condition	GLikely benign
Select item 3050009	NM_002281.4(KRT81):c.1395C>T (p.Thr465=)	KRT81, KRT86	Single nucleotide variant (synonymous variant +1 more)	KRT81-related condition	GLikely benign
Select item 3041493	NM_001320198.2(KRT86):c.1280-9C>G	KRT81, KRT86	Single nucleotide variant (intron variant)	KRT86-related condition	GLikely benign
Select item 3038944	NM_001320198.2(KRT86):c.*10G>C	KRT81, KRT86	Single nucleotide variant (3 prime UTR variant)	KRT86-related condition	GLikely benign
Select item 2643013	NM_001320198.2(KRT86):c.993G>A (p.Arg331=)	KRT81, KRT86	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2643012	NM_001320198.2(KRT86):c.947G>A (p.Arg316His)	KRT81, 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 +1 more	GBenign
Select item 2604423	NM_002281.4(KRT81):c.1354G>C (p.Val452Leu)	KRT81, KRT86 (V452L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2602098	NM_002281.4(KRT81):c.1093C>T (p.Arg365Cys)	KRT81, KRT86 (R365C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2538236	NM_002281.4(KRT81):c.652G>A (p.Ala218Thr)	KRT81, KRT86 (A218T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2536751	NM_002281.4(KRT81):c.869G>A (p.Arg290Gln)	KRT81, KRT86 (R290Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2485491	NM_002281.4(KRT81):c.640G>A (p.Asp214Asn)	KRT81, KRT86 (D214N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2478264	NM_002281.4(KRT81):c.1374C>G (p.Asn458Lys)	KRT81, KRT86 (N458K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	KRT86, KRT81 (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)	Inborn genetic diseases	GUncertain significance
Select item 2388207	NM_002281.4(KRT81):c.1508G>A (p.Arg503Gln)	KRT81, KRT86 (R503Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2378241	NM_002281.4(KRT81):c.1396G>A (p.Gly466Ser)	KRT86, KRT81 (G466S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2372861	NM_001320198.2(KRT86):c.232A>T (p.Ile78Phe)	KRT86, KRT81 (I78F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2363999	NM_002281.4(KRT81):c.136G>C (p.Gly46Arg)	KRT86, KRT81 (G46R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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)	KRT86, KRT81 (G465R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2326777	NM_001320198.2(KRT86):c.812T>C (p.Met271Thr)	KRT86, KRT81 (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)	Inborn genetic diseases	GUncertain significance
Select item 2317899	NM_002281.4(KRT81):c.241G>T (p.Val81Leu)	KRT86, KRT81 (V81L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2316635	NM_002281.4(KRT81):c.1460C>G (p.Ser487Cys)	KRT86, KRT81 (S487C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2310216	NM_002281.4(KRT81):c.28C>T (p.Arg10Cys)	KRT86, KRT81 (R10C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2298630	NM_002281.4(KRT81):c.1034A>G (p.Lys345Arg)	KRT81, KRT86 (K345R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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)	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 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)	KRT86, KRT81 (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
Select item 2214246	NM_002281.4(KRT81):c.190G>A (p.Gly64Ser)	KRT86, KRT81 (G64S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2207889	NM_001320198.2(KRT86):c.415C>A (p.Gln139Lys)	KRT81, KRT86 (Q139K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1701200	NM_002281.4(KRT81):c.1453G>A (p.Val485Met)	KRT86, KRT81 (V485M)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1288973	NM_001320198.2(KRT86):c.579-151T>C	KRT81, KRT86	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286726	NM_001320198.2(KRT86):c.-4-10152C>T	KRT81, KRT86	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283930	NM_001320198.2(KRT86):c.636G>A (p.Lys212=)	KRT81, KRT86	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1279587	NM_001320198.2(KRT86):c.370-249dup	KRT81, KRT86	Duplication (intron variant)	not provided	GBenign
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 1278097	NM_002281.4(KRT81):c.900+54A>G	KRT81, KRT86	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277634	NM_001320198.2(KRT86):c.-4-10264C>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 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 1273700	NM_001320198.2(KRT86):c.639+273T>G	KRT81, KRT86	Single nucleotide variant (intron variant)	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 1272008	NM_001320198.2(KRT86):c.639+290C>A	KRT81, KRT86	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271070	NM_001320198.2(KRT86):c.579-93T>C	KRT81, KRT86	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268982	NM_001320198.2(KRT86):c.873T>C (p.Ala291=)	KRT81, KRT86	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1268874	NM_001320198.2(KRT86):c.1248-309T>C	KRT81, KRT86	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267877	NM_001320198.2(KRT86):c.-4-67C>T	KRT81, KRT86	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266646	NM_001320198.2(KRT86):c.1027-116G>A	KRT81, KRT86	Single nucleotide variant (intron variant)	not provided	GBenign
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 1264488	NM_001320198.2(KRT86):c.639+275C>T	KRT81, KRT86	Single nucleotide variant (intron variant)	not provided	GBenign
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 1263821	NM_001320198.2(KRT86):c.639+271A>G	KRT81, KRT86	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260606	NM_001320198.2(KRT86):c.370-255_370-254insA	KRT81, KRT86	Insertion (intron variant)	not provided	GBenign
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 1253561	NM_002281.4(KRT81):c.*102G>C	KRT81, KRT86	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1252633	NM_001320198.2(KRT86):c.578+178G>C	KRT81, KRT86	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252238	NM_001320198.2(KRT86):c.1002T>C (p.Ala334=)	KRT81, KRT86	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1249366	NM_001320198.2(KRT86):c.900+25G>T	KRT81, KRT86	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248361	NM_001320198.2(KRT86):c.54C>T (p.Cys18=)	KRT81, KRT86	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1246025	NM_001320198.2(KRT86):c.639+280G>T	KRT81, KRT86	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245169	NM_001320198.2(KRT86):c.639+301A>T	KRT81, KRT86	Single nucleotide variant (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
Select item 1232546	NM_001320198.2(KRT86):c.370-250_370-249del	KRT81, KRT86	Deletion (intron variant)	not provided	GBenign
Select item 1229890	NM_001320198.2(KRT86):c.87C>T (p.Ala29=)	KRT81, KRT86	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1229736	NM_002281.4(KRT81):c.1026+98A>G	KRT81, KRT86	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229418	NM_001320198.2(KRT86):c.579-147A>C	KRT81, KRT86	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228047	NM_001320198.2(KRT86):c.579-89C>T	KRT81, KRT86	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227864	NM_001320198.2(KRT86):c.579-86G>C	KRT81, KRT86	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1224979	NM_002281.4(KRT81):c.1247+120C>T	KRT81, KRT86	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1224621	NM_001320198.2(KRT86):c.1247+36C>A	KRT81, KRT86	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1224561	NM_001320198.2(KRT86):c.684T>C (p.Asn228=)	KRT81, KRT86	Single nucleotide variant (synonymous variant)	Beaded hair +1 more	GBenign/Likely benign

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