KRT6B[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 774214	NM_005555.4(KRT6B):c.1665C>T (p.Ser555=)	KRT6B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1955314	NM_005555.4(KRT6B):c.1661C>T (p.Thr554Ile)	KRT6B (T554I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2884916	NM_005555.4(KRT6B):c.1659C>T (p.Thr553=)	KRT6B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2517488	NM_005555.4(KRT6B):c.1640C>G (p.Ser547Cys)	KRT6B (S547C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2211057	NM_005555.4(KRT6B):c.1633G>A (p.Gly545Ser)	KRT6B (G545S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1573259	NM_005555.4(KRT6B):c.1625T>C (p.Val542Ala)	KRT6B (V542A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1310625	NM_005555.4(KRT6B):c.1620C>G (p.Ser540Arg)	KRT6B (S540R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 806893	NM_005555.4(KRT6B):c.1609G>A (p.Gly537Ser)	KRT6B (G537S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2620782	NM_005555.4(KRT6B):c.1604C>T (p.Thr535Ile)	KRT6B (T535I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2059618	NM_005555.4(KRT6B):c.1593C>A (p.Ser531Arg)	KRT6B (S531R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2353117	NM_005555.4(KRT6B):c.1549T>C (p.Tyr517His)	KRT6B (Y517H)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 778593	NM_005555.4(KRT6B):c.1548C>T (p.Ser516=)	KRT6B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2388935	NM_005555.4(KRT6B):c.1523G>A (p.Gly508Asp)	KRT6B (G508D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 737625	NM_005555.4(KRT6B):c.1510G>A (p.Gly504Ser)	KRT6B (G504S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 802862	NM_005555.4(KRT6B):c.1495G>A (p.Gly499Ser)	KRT6B (G499S)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 718030	NM_005555.4(KRT6B):c.1494C>T (p.Gly498=)	KRT6B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1603227	NM_005555.4(KRT6B):c.1490A>G (p.Tyr497Cys)	KRT6B (Y497C)	Single nucleotide variant (missense variant)	KRT6B-related disorder +1 more	GBenign
Select item 2170364	NM_005555.4(KRT6B):c.1484G>A (p.Ser495Asn)	KRT6B (S495N)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2067686	NM_005555.4(KRT6B):c.1476C>T (p.Thr492=)	KRT6B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2619931	NM_005555.4(KRT6B):c.1466T>C (p.Val489Ala)	KRT6B (V489A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2981681	NM_005555.4(KRT6B):c.1460-14C>G	KRT6B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3020415	NM_005555.4(KRT6B):c.1459+14T>C	KRT6B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2734475	NM_005555.4(KRT6B):c.1441G>A (p.Val481Ile)	KRT6B (V481I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2814839	NM_005555.4(KRT6B):c.1425-6C>T	KRT6B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1600977	NM_005555.4(KRT6B):c.1424+13C>T	KRT6B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 14633	NM_005555.4(KRT6B):c.1414G>A (p.Glu472Lys)	KRT6B (E472K)	Single nucleotide variant (missense variant)	Pachyonychia congenita 4 +1 more	GPathogenic
Select item 816696	NM_005555.4(KRT6B):c.1406T>G (p.Leu469Arg)	KRT6B (L469R)	Single nucleotide variant (missense variant)	Pachyonychia congenita 4	GPathogenic
Select item 1645163	NM_005555.4(KRT6B):c.1396C>T (p.Arg466Cys)	KRT6B (R466C)	Single nucleotide variant (missense variant)	KRT6B-related disorder +1 more	GBenign
Select item 1558103	NM_005555.4(KRT6B):c.1388C>T (p.Ala463Val)	KRT6B (A463V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2056680	NM_005555.4(KRT6B):c.1387G>A (p.Ala463Thr)	KRT6B (A463T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 728712	NM_005555.4(KRT6B):c.1386C>T (p.Ile462=)	KRT6B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 66599	NM_005555.4(KRT6B):c.1381G>A (p.Glu461Lys)	KRT6B (E461K)	Single nucleotide variant (missense variant)	Pachyonychia congenita 4 +1 more	GPathogenic/Likely pathogenic
Select item 2884080	NM_005555.4(KRT6B):c.1374G>A (p.Leu458=)	KRT6B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1665290	NM_005555.4(KRT6B):c.1360G>A (p.Val454Ile)	KRT6B (V454I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2715426	NM_005555.4(KRT6B):c.1359C>A (p.Asn453Lys)	KRT6B (N453K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 733948	NM_005555.4(KRT6B):c.1359C>T (p.Asn453=)	KRT6B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3116573	NM_005555.4(KRT6B):c.1346A>G (p.Gln449Arg)	KRT6B (Q449R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3116572	NM_005555.4(KRT6B):c.1328G>A (p.Arg443Gln)	KRT6B (R443Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2343562	NM_005555.4(KRT6B):c.1321C>G (p.Leu441Val)	KRT6B (L441V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2080481	NM_005555.4(KRT6B):c.1313A>G (p.Lys438Arg)	KRT6B (K438R)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 1538326	NM_005555.4(KRT6B):c.1308G>A (p.Lys436=)	KRT6B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1086414	NM_005555.4(KRT6B):c.1244G>A (p.Arg415His)	KRT6B (R415H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3116571	NM_005555.4(KRT6B):c.1243C>T (p.Arg415Cys)	KRT6B (R415C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2461714	NM_005555.4(KRT6B):c.1222G>A (p.Ala408Thr)	KRT6B (A408T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1269785	NM_005555.4(KRT6B):c.1221C>T (p.Ala407=)	KRT6B	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 3116570	NM_005555.4(KRT6B):c.1208C>T (p.Ala403Val)	KRT6B (A403V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1911748	NM_005555.4(KRT6B):c.1204-20C>T	KRT6B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2018748	NM_005555.4(KRT6B):c.1203+13G>A	KRT6B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1401128	NM_005555.4(KRT6B):c.1201C>A (p.Gln401Lys)	KRT6B (Q401K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1631880	NM_005555.4(KRT6B):c.1186G>A (p.Asp396Asn)	KRT6B (D396N)	Single nucleotide variant (missense variant)	KRT6B-related disorder +2 more	GBenign/Likely benign
Select item 2738394	NM_005555.4(KRT6B):c.1157G>A (p.Arg386His)	KRT6B (R386H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3116569	NM_005555.4(KRT6B):c.1136A>G (p.Gln379Arg)	KRT6B (Q379R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2883938	NM_005555.4(KRT6B):c.1134G>A (p.Lys378=)	KRT6B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2063996	NM_005555.4(KRT6B):c.1124G>A (p.Arg375His)	KRT6B (R375H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2265351	NM_005555.4(KRT6B):c.1118A>G (p.Asp373Gly)	KRT6B (D373G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1300088	NM_005555.4(KRT6B):c.1093A>G (p.Ile365Val)	KRT6B (I365V)	Single nucleotide variant (missense variant)	Pachyonychia congenita 4 +2 more	GBenign
Select item 2298490	NM_005555.4(KRT6B):c.1081G>A (p.Glu361Lys)	KRT6B (E361K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2169266	NM_005555.4(KRT6B):c.1080C>T (p.Tyr360=)	KRT6B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1624755	NM_005555.4(KRT6B):c.1078-11C>T	KRT6B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1942975	NM_005555.4(KRT6B):c.1077+14G>A	KRT6B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2708324	NM_005555.4(KRT6B):c.1074A>C (p.Thr358=)	KRT6B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2889234	NM_005555.4(KRT6B):c.1047G>T (p.Arg349Ser)	KRT6B (R349S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 789218	NM_005555.4(KRT6B):c.1045A>C (p.Arg349=)	KRT6B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2885301	NM_005555.4(KRT6B):c.1041G>A (p.Arg347=)	KRT6B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 742490	NM_005555.4(KRT6B):c.988C>T (p.Leu330=)	KRT6B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 731883	NM_005555.4(KRT6B):c.951C>T (p.Ser317=)	KRT6B	Single nucleotide variant (synonymous variant)	KRT6B-related disorder +1 more	GLikely benign
Select item 2261307	NM_005555.4(KRT6B):c.938T>A (p.Ile313Asn)	KRT6B (I313N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 790657	NM_005555.4(KRT6B):c.913-7T>C	KRT6B	Single nucleotide variant (intron variant)	KRT6B-related disorder +1 more	GBenign
Select item 1601152	NM_005555.4(KRT6B):c.912+8A>T	KRT6B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2765284	NM_005555.4(KRT6B):c.873T>C (p.Leu291=)	KRT6B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2228852	NM_005555.4(KRT6B):c.869C>T (p.Thr290Ile)	KRT6B (T290I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2619762	NM_005555.4(KRT6B):c.841A>C (p.Lys281Gln)	KRT6B (K281Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 744374	NM_005555.4(KRT6B):c.835A>T (p.Met279Leu)	KRT6B (M279L)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2121825	NM_005555.4(KRT6B):c.828T>G (p.Ala276=)	KRT6B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2218184	NM_005555.4(KRT6B):c.820G>A (p.Val274Met)	KRT6B (V274M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 776704	NM_005555.4(KRT6B):c.819T>C (p.Asp273=)	KRT6B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2254079	NM_005555.4(KRT6B):c.818A>G (p.Asp273Gly)	KRT6B (D273G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1986423	NM_005555.4(KRT6B):c.817-5C>T	KRT6B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3023688	NM_005555.4(KRT6B):c.816+18G>A	KRT6B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1658260	NM_005555.4(KRT6B):c.816+17A>G	KRT6B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1988837	NM_005555.4(KRT6B):c.816+13A>G	KRT6B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 727708	NM_005555.4(KRT6B):c.808C>T (p.Leu270=)	KRT6B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2569654	NM_005555.4(KRT6B):c.779G>A (p.Arg260His)	KRT6B (R260H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1988647	NM_005555.4(KRT6B):c.756-19C>T	KRT6B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2035369	NM_005555.4(KRT6B):c.755+6_755+12delinsTTAAACAGGAGAAATGGACTCAG	KRT6B	Indel (intron variant)	not provided	GUncertain significance
Select item 2461179	NM_005555.4(KRT6B):c.741G>C (p.Glu247Asp)	KRT6B (E247D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2298056	NM_005555.4(KRT6B):c.724A>T (p.Met242Leu)	KRT6B (M242L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2059619	NM_005555.4(KRT6B):c.711G>A (p.Ser237=)	KRT6B	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 3040572	NM_005555.4(KRT6B):c.705G>A (p.Leu235=)	KRT6B	Single nucleotide variant (synonymous variant)	KRT6B-related disorder	GLikely benign
Select item 1628168	NM_005555.4(KRT6B):c.702T>C (p.Arg234=)	KRT6B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1619190	NM_005555.4(KRT6B):c.699T>C (p.Gly233=)	KRT6B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3116582	NM_005555.4(KRT6B):c.695G>A (p.Arg232Gln)	KRT6B (R232Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2590647	NM_005555.4(KRT6B):c.685G>A (p.Val229Met)	KRT6B (V229M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1601256	NM_005555.4(KRT6B):c.680A>G (p.Asn227Ser)	KRT6B (N227S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2534961	NM_005555.4(KRT6B):c.673C>G (p.Leu225Val)	KRT6B (L225V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2372581	NM_005555.4(KRT6B):c.643G>A (p.Glu215Lys)	KRT6B (E215K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2712779	NM_005555.4(KRT6B):c.635C>T (p.Pro212Leu)	KRT6B (P212L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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