KRT6A[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 2854670	NM_005554.4(KRT6A):c.1683C>A (p.Ser561Arg)	KRT6A (S561R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1675500	NM_005554.4(KRT6A):c.1660A>G (p.Thr554Ala)	KRT6A (T554A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1561393	NM_005554.4(KRT6A):c.1655C>G (p.Thr552Ser)	KRT6A (T552S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2665037	NM_005554.4(KRT6A):c.1650G>T (p.Lys550Asn)	KRT6A (K550N)	Single nucleotide variant (missense variant)	Pachyonychia congenita 3 +1 more	GUncertain significance
Select item 2557724	NM_005554.4(KRT6A):c.1606G>A (p.Gly536Arg)	KRT6A (G536R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2075297	NM_005554.4(KRT6A):c.1604T>C (p.Ile535Thr)	KRT6A (I535T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2871078	NM_005554.4(KRT6A):c.1603A>T (p.Ile535Phe)	KRT6A (I535F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1601017	NM_005554.4(KRT6A):c.1567G>T (p.Val523Phe)	KRT6A (V523F)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 773545	NM_005554.4(KRT6A):c.1567G>A (p.Val523Ile)	KRT6A (V523I)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 3116562	NM_005554.4(KRT6A):c.1565G>A (p.Gly522Asp)	KRT6A (G522D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2548036	NM_005554.4(KRT6A):c.1534G>A (p.Gly512Arg)	KRT6A (G512R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1339080	NM_005554.4(KRT6A):c.1529G>T (p.Gly510Val)	KRT6A (G510V)	Single nucleotide variant (missense variant)	Pachyonychia congenita 3	GUncertain significance
Select item 66578	NM_005554.4(KRT6A):c.1511dup (p.Ser505fs)	KRT6A (S505fs)	Duplication (frameshift variant)	not provided	Gnot provided
Select item 2410183	NM_005554.4(KRT6A):c.1510G>A (p.Gly504Ser)	KRT6A (G504S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1627766	NM_005554.4(KRT6A):c.1509C>T (p.Val503=)	KRT6A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2907816	NM_005554.4(KRT6A):c.1503T>C (p.Ser501=)	KRT6A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2558526	NM_005554.4(KRT6A):c.1499C>G (p.Ala500Gly)	KRT6A (A500G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 156022	NM_005554.4(KRT6A):c.1460-2A>C	KRT6A	Single nucleotide variant (splice acceptor variant)	Pachyonychia congenita 3	GPathogenic
Select item 2849094	NM_005554.4(KRT6A):c.1459+17G>A	KRT6A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 724911	NM_005554.4(KRT6A):c.1459+7A>G	KRT6A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2919175	NM_005554.4(KRT6A):c.1459+4A>T	KRT6A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1546327	NM_005554.4(KRT6A):c.1456A>G (p.Ile486Val)	KRT6A (I486V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1012820	NM_005554.4(KRT6A):c.1449A>G (p.Gln483=)	KRT6A	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2588365	NM_005554.4(KRT6A):c.1441G>A (p.Val481Ile)	KRT6A (V481I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1937894	NM_005554.4(KRT6A):c.1425-5C>T	KRT6A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1266534	NM_005554.4(KRT6A):c.1425-23C>T	KRT6A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291209	NM_005554.4(KRT6A):c.1424+18A>C	KRT6A	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 2109726	NM_005554.4(KRT6A):c.1418dup (p.Cys474fs)	KRT6A (C474fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 66577	NM_005554.4(KRT6A):c.1416G>C (p.Glu472Asp)	KRT6A (E472D)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 14636	NM_005554.4(KRT6A):c.1414G>A (p.Glu472Lys)	KRT6A (E472K)	Single nucleotide variant (missense variant)	Pachyonychia congenita 3 +1 more	GPathogenic/Likely pathogenic
Select item 66576	NM_005554.4(KRT6A):c.1406T>C (p.Leu469Pro)	KRT6A (L469P)	Single nucleotide variant (missense variant)	Pachyonychia congenita 3	GPathogenic
Select item 14637	NM_005554.4(KRT6A):c.1406T>G (p.Leu469Arg)	KRT6A (L469R)	Single nucleotide variant (missense variant)	Pachyonychia congenita 3	GPathogenic
Select item 66575	NM_005554.4(KRT6A):c.1403T>C (p.Leu468Pro)	KRT6A (L468P)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 66574	NM_005554.4(KRT6A):c.1403T>A (p.Leu468Gln)	KRT6A (L468Q)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 66573	NM_005554.4(KRT6A):c.1394A>G (p.Tyr465Cys)	KRT6A (Y465C)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 66572	NM_005554.4(KRT6A):c.1393T>C (p.Tyr465His)	KRT6A (Y465H)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 66571	NM_005554.4(KRT6A):c.1390A>C (p.Thr464Pro)	KRT6A (T464P)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 66570	NM_005554.4(KRT6A):c.1387G>C (p.Ala463Pro)	KRT6A (A463P)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 66569	NM_005554.4(KRT6A):c.1385T>G (p.Ile462Ser)	KRT6A (I462S)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 66568	NM_005554.4(KRT6A):c.1385T>A (p.Ile462Asn)	KRT6A (I462N)	Single nucleotide variant (missense variant)	not provided	GPathogenic/Likely pathogenic
Select item 827961	NM_005554.4(KRT6A):c.1381G>T (p.Glu461Ter)	KRT6A (E461*)	Single nucleotide variant (nonsense)	Pachyonychia congenita 3	GLikely pathogenic
Select item 66567	NM_005554.4(KRT6A):c.1381G>C (p.Glu461Gln)	KRT6A (E461Q)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 66566	NM_005554.4(KRT6A):c.1381G>A (p.Glu461Lys)	KRT6A (E461K)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 2360404	NM_005554.4(KRT6A):c.1378G>A (p.Val460Met)	KRT6A (V460M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2027437	NM_005554.4(KRT6A):c.1377C>T (p.Asp459=)	KRT6A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2172762	NM_005554.4(KRT6A):c.1340A>G (p.Glu447Gly)	KRT6A (E447G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3042714	NM_005554.4(KRT6A):c.1328G>A (p.Arg443Gln)	KRT6A (R443Q)	Single nucleotide variant (missense variant)	KRT6A-related disorder	GBenign
Select item 378063	NM_005554.4(KRT6A):c.1327C>T (p.Arg443Trp)	KRT6A (R443W)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 3040393	NM_005554.4(KRT6A):c.1326C>T (p.Ala442=)	KRT6A	Single nucleotide variant (synonymous variant)	KRT6A-related disorder	GLikely benign
Select item 1803647	NM_005554.4(KRT6A):c.1316del (p.Gln439fs)	KRT6A (Q439fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 66565	NM_005554.4(KRT6A):c.1303C>T (p.Gln435Ter)	KRT6A (Q435*)	Single nucleotide variant (nonsense)	not provided	Gnot provided
Select item 1978685	NM_005554.4(KRT6A):c.1299C>T (p.Ala433=)	KRT6A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3043315	NM_005554.4(KRT6A):c.1290G>T (p.Leu430=)	KRT6A	Single nucleotide variant (synonymous variant)	KRT6A-related disorder	GLikely benign
Select item 2720348	NM_005554.4(KRT6A):c.1285G>C (p.Gly429Arg)	KRT6A (G429R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2387041	NM_005554.4(KRT6A):c.1282G>A (p.Glu428Lys)	KRT6A (E428K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2046243	NM_005554.4(KRT6A):c.1269C>T (p.Ala423=)	KRT6A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 715770	NM_005554.4(KRT6A):c.1244G>A (p.Arg415His)	KRT6A (R415H)	Single nucleotide variant (missense variant)	KRT6A-related disorder +1 more	GBenign
Select item 2416236	NM_005554.4(KRT6A):c.1224C>T (p.Ala408=)	KRT6A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3116561	NM_005554.4(KRT6A):c.1223C>T (p.Ala408Val)	KRT6A (A408V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2046244	NM_005554.4(KRT6A):c.1221C>T (p.Ala407=)	KRT6A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2046245	NM_005554.4(KRT6A):c.1211A>G (p.Asn404Ser)	KRT6A (N404S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2882942	NM_005554.4(KRT6A):c.1207G>A (p.Ala403Thr)	KRT6A (A403T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2046246	NM_005554.4(KRT6A):c.1206C>T (p.Cys402=)	KRT6A	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2046247	NM_005554.4(KRT6A):c.1204-3C>T	KRT6A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2046248	NM_005554.4(KRT6A):c.1204-5T>C	KRT6A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2046249	NM_005554.4(KRT6A):c.1204-8T>C	KRT6A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1988270	NM_005554.4(KRT6A):c.1204-18A>C	KRT6A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234405	NM_005554.4(KRT6A):c.1204-80_1204-79insTTC	KRT6A	Insertion (intron variant)	not provided	GBenign
Select item 1580821	NM_005554.4(KRT6A):c.1203+13A>G	KRT6A	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 2457467	NM_005554.4(KRT6A):c.1198A>C (p.Lys400Gln)	KRT6A (K400Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2522776	NM_005554.4(KRT6A):c.1192G>A (p.Val398Ile)	KRT6A (V398I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3116560	NM_005554.4(KRT6A):c.1186G>A (p.Asp396Asn)	KRT6A (D396N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2480247	NM_005554.4(KRT6A):c.1157G>T (p.Arg386Leu)	KRT6A (R386L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1312601	NM_005554.4(KRT6A):c.1157G>A (p.Arg386His)	KRT6A (R386H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2716296	NM_005554.4(KRT6A):c.1124G>A (p.Arg375His)	KRT6A (R375H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2363812	NM_005554.4(KRT6A):c.1123C>T (p.Arg375Cys)	KRT6A (R375C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3116559	NM_005554.4(KRT6A):c.1117G>A (p.Asp373Asn)	KRT6A (D373N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2176376	NM_005554.4(KRT6A):c.1116C>T (p.Asp372=)	KRT6A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3116558	NM_005554.4(KRT6A):c.1103G>A (p.Gly368Asp)	KRT6A (G368D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3116557	NM_005554.4(KRT6A):c.1081G>A (p.Glu361Lys)	KRT6A (E361K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 930292	NM_005554.4(KRT6A):c.1078-10T>C	KRT6A	Single nucleotide variant (intron variant)	Pachyonychia congenita 3	GUncertain significance
Select item 1989627	NM_005554.4(KRT6A):c.1077+12G>T	KRT6A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2080774	NM_005554.4(KRT6A):c.1074C>A (p.Thr358=)	KRT6A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1576244	NM_005554.4(KRT6A):c.1041A>G (p.Arg347=)	KRT6A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1665036	NM_005554.4(KRT6A):c.1023T>C (p.Tyr341=)	KRT6A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 782558	NM_005554.4(KRT6A):c.1003G>A (p.Ala335Thr)	KRT6A (A335T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2621365	NM_005554.4(KRT6A):c.981C>G (p.Asn327Lys)	KRT6A (N327K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 950541	NM_005554.4(KRT6A):c.968A>T (p.Asp323Val)	KRT6A (D323V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1640510	NM_005554.4(KRT6A):c.960G>A (p.Leu320=)	KRT6A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1582206	NM_005554.4(KRT6A):c.951T>C (p.Ser317=)	KRT6A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3116568	NM_005554.4(KRT6A):c.950C>T (p.Ser317Phe)	KRT6A (S317F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2914614	NM_005554.4(KRT6A):c.939C>A (p.Ile313=)	KRT6A	Single nucleotide variant (synonymous variant)	KRT6A-related disorder +1 more	GLikely benign
Select item 1535096	NM_005554.4(KRT6A):c.921C>T (p.Ser307=)	KRT6A	Single nucleotide variant (synonymous variant)	KRT6A-related disorder +1 more	GBenign/Likely benign
Select item 1636209	NM_005554.4(KRT6A):c.918G>A (p.Leu306=)	KRT6A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1601094	NM_005554.4(KRT6A):c.912+19C>T	KRT6A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2966448	NM_005554.4(KRT6A):c.912+14C>T	KRT6A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2061106	NM_005554.4(KRT6A):c.879C>T (p.Asp293=)	KRT6A	Single nucleotide variant (synonymous variant)	not provided	GBenign

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