KRT16[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC126862582, LOC126862583 +1753 more	Copy number gain	See cases	GPathogenic
Select item 58696	GRCh38/hg38 17q12-21.31(chr17:39199873-45629579)x3	LOC130060786, LOC130060787 +633 more	Copy number gain	See cases	GPathogenic
Select item 1029979	NM_005557.4(KRT16):c.1373T>C (p.Ile458Thr)	KRT16 (I458T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2166380	NM_005557.4(KRT16):c.1357C>T (p.Arg453Cys)	KRT16 (R453C)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1640327	NM_005557.4(KRT16):c.1343C>T (p.Ser448Leu)	KRT16 (S448L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2776183	NM_005557.4(KRT16):c.1328-18_1328-16del	KRT16	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1902641	NM_005557.4(KRT16):c.1324G>A (p.Glu442Lys)	KRT16 (E442K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2329413	NM_005557.4(KRT16):c.1322G>A (p.Arg441His)	KRT16 (R441H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2274217	NM_005557.4(KRT16):c.1297G>A (p.Ala433Thr)	KRT16 (A433T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1300085	NM_005557.4(KRT16):c.1281-16T>C	KRT16	Single nucleotide variant (intron variant)	Pachyonychia congenita 1 +2 more	GBenign
Select item 2301293	NM_005557.4(KRT16):c.1279C>T (p.His427Tyr)	KRT16 (H427Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 66601	NM_005557.4(KRT16):c.1270del (p.Glu424fs)	KRT16 (E424fs)	Deletion (frameshift variant)	not provided	Gnot provided
Select item 14610	NM_005557.4(KRT16):c.1244_1270delinsGGC (p.Ala415_Glu424delinsGlyGln)	KRT16	Indel (inframe_indel)	Palmoplantar keratoderma, nonepidermolytic, focal 1	GPathogenic
Select item 2738433	NM_005557.4(KRT16):c.1255C>T (p.Arg419Cys)	KRT16 (R419C)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 788153	NM_005557.4(KRT16):c.1252C>T (p.Arg418Cys)	KRT16 (R418C)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 787135	NM_005557.4(KRT16):c.1168C>T (p.Arg390Cys)	KRT16 (R390C)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 2160072	NM_005557.4(KRT16):c.1162C>T (p.Gln388Ter)	KRT16 (Q388*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2530678	NM_005557.4(KRT16):c.1117T>G (p.Ser373Ala)	KRT16 (S373A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2062702	NM_005557.4(KRT16):c.1097G>A (p.Gly366Asp)	KRT16 (G366D)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1500606	NM_005557.4(KRT16):c.1086G>T (p.Glu362Asp)	KRT16 (E362D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1714216	NM_005557.4(KRT16):c.1066T>C (p.Ser356Pro)	KRT16 (S356P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 14607	NM_005557.4(KRT16):c.1062A>T (p.Lys354Asn)	KRT16 (K354N)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 2962136	NM_005557.4(KRT16):c.1060-5T>G	KRT16	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2168682	NM_005557.4(KRT16):c.989G>T (p.Arg330Leu)	KRT16 (R330L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 432275	NM_005557.4(KRT16):c.989G>A (p.Arg330His)	KRT16 (R330H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1956079	NM_005557.4(KRT16):c.969C>T (p.Ser323=)	KRT16	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2958232	NM_005557.4(KRT16):c.934-8T>C	KRT16	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3034530	NM_005557.4(KRT16):c.934-9C>T	KRT16	Single nucleotide variant (intron variant)	KRT16-related disorder	GLikely benign
Select item 1414941	NM_005557.4(KRT16):c.933+18del	KRT16	Deletion (intron variant)	Palmoplantar keratoderma, nonepidermolytic, focal 1 +2 more	GUncertain significance
Select item 1898228	NM_005557.4(KRT16):c.933+15C>T	KRT16	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1902364	NM_005557.4(KRT16):c.933+13C>G	KRT16	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2068316	NM_005557.4(KRT16):c.933+10G>A	KRT16	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3045122	NM_005557.4(KRT16):c.933+9C>T	KRT16	Single nucleotide variant (intron variant)	KRT16-related disorder	GLikely benign
Select item 778709	NM_005557.4(KRT16):c.927G>A (p.Leu309=)	KRT16	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 732351	NM_005557.4(KRT16):c.925C>T (p.Leu309=)	KRT16	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 778710	NM_005557.4(KRT16):c.916A>G (p.Thr306Ala)	KRT16 (T306A)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 757724	NM_005557.4(KRT16):c.909C>T (p.Asp303=)	KRT16	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2433268	NM_005557.4(KRT16):c.905G>A (p.Arg302Lys)	KRT16 (R302K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 208662	NM_005557.4(KRT16):c.887T>C (p.Met296Thr)	KRT16 (M296T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2158650	NM_005557.4(KRT16):c.879C>T (p.Tyr293=)	KRT16	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2968550	NM_005557.4(KRT16):c.869G>A (p.Arg290His)	KRT16 (R290H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2981944	NM_005557.4(KRT16):c.851G>A (p.Arg284His)	KRT16 (R284H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2160058	NM_005557.4(KRT16):c.837C>T (p.Gly279=)	KRT16	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2322947	NM_005557.4(KRT16):c.802G>A (p.Gly268Arg)	KRT16 (G268R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2902545	NM_005557.4(KRT16):c.798C>T (p.Thr266=)	KRT16	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 778711	NM_005557.4(KRT16):c.771+3A>G	KRT16	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 2064361	NM_005557.4(KRT16):c.769G>A (p.Glu257Lys)	KRT16 (E257K)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2260805	NM_005557.4(KRT16):c.766G>A (p.Glu256Lys)	KRT16 (E256K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 728097	NM_005557.4(KRT16):c.746C>T (p.Ala249Val)	KRT16 (A249V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3289344	NM_005557.4(KRT16):c.712G>C (p.Glu238Gln)	KRT16 (E238Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2730334	NM_005557.4(KRT16):c.699C>T (p.Ala233=)	KRT16	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2078680	NM_005557.4(KRT16):c.674G>A (p.Arg225Gln)	KRT16 (R225Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1691174	NM_005557.4(KRT16):c.653C>A (p.Ala218Asp)	KRT16 (A218D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 791432	NM_005557.4(KRT16):c.644C>G (p.Thr215Ser)	KRT16 (T215S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 735543	NM_005557.4(KRT16):c.637C>T (p.Arg213Trp)	KRT16 (R213W)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2154754	NM_005557.4(KRT16):c.632C>T (p.Ala211Val)	KRT16 (A211V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1264136	NM_005557.4(KRT16):c.624T>C (p.His208=)	KRT16	Single nucleotide variant (synonymous variant)	Pachyonychia congenita 1 +2 more	GBenign
Select item 1902594	NM_005557.4(KRT16):c.619G>T (p.Glu207Ter)	KRT16 (E207*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 782913	NM_005557.4(KRT16):c.596C>T (p.Ala199Val)	KRT16 (A199V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 797362	NM_005557.4(KRT16):c.588G>A (p.Arg196=)	KRT16	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 782154	NM_005557.4(KRT16):c.558G>A (p.Ala186=)	KRT16	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 587419	NM_005557.4(KRT16):c.539C>T (p.Ala180Val)	KRT16 (A180V)	Single nucleotide variant (missense variant)	Palmoplantar keratoderma, epidermolytic +2 more	GConflicting classifications of pathogenicity
Select item 2681360	NM_005557.4(KRT16):c.531+1G>A	KRT16	Single nucleotide variant (splice donor variant)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 2721779	NM_005557.4(KRT16):c.470G>T (p.Arg157Leu)	KRT16 (R157L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2720988	NM_005557.4(KRT16):c.469C>T (p.Arg157Trp)	KRT16 (R157W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2519518	NM_005557.4(KRT16):c.448C>T (p.Arg150Cys)	KRT16 (R150C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2730335	NM_005557.4(KRT16):c.444G>A (p.Lys148=)	KRT16	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3050827	NM_005557.4(KRT16):c.429C>T (p.Ala143=)	KRT16	Single nucleotide variant (synonymous variant)	KRT16-related disorder	GLikely benign
Select item 3050101	NM_005557.4(KRT16):c.415G>C (p.Glu139Gln)	KRT16 (E139Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2217002	NM_005557.4(KRT16):c.407G>A (p.Arg136His)	KRT16 (R136H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 14600	NM_005557.4(KRT16):c.395T>C (p.Leu132Pro)	KRT16 (L132P)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 14603	NM_005557.4(KRT16):c.386CCT[1] (p.Ser130del)	KRT16 (S130del)	Microsatellite (inframe_deletion)	not provided	GPathogenic
Select item 265486	NM_005557.4(KRT16):c.383T>C (p.Leu128Pro)	KRT16 (L128P)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 14609	NM_005557.4(KRT16):c.383T>A (p.Leu128Gln)	KRT16 (L128Q)	Single nucleotide variant (missense variant)	Pachyonychia congenita 1	GPathogenic
Select item 2972863	NM_005557.4(KRT16):c.380G>T (p.Arg127Leu)	KRT16 (R127L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 14604	NM_005557.4(KRT16):c.380G>C (p.Arg127Pro)	KRT16 (R127P)	Single nucleotide variant (missense variant)	Pachyonychia congenita 1	GPathogenic
Select item 265217	NM_005557.4(KRT16):c.379C>G (p.Arg127Gly)	KRT16 (R127G)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 14601	NM_005557.4(KRT16):c.379C>T (p.Arg127Cys)	KRT16 (R127C)	Single nucleotide variant (missense variant)	Palmoplantar keratoderma, nonepidermolytic, focal 1 +3 more	GPathogenic
Select item 3035632	NM_005557.4(KRT16):c.375T>C (p.Asn125=)	KRT16	Single nucleotide variant (synonymous variant)	KRT16-related disorder	GLikely benign
Select item 156024	NM_005557.4(KRT16):c.373_374delinsGG (p.Asn125Gly)	KRT16 (N125G)	Indel (missense variant)	Pachyonychia congenita 1	GPathogenic
Select item 14602	NM_005557.4(KRT16):c.374A>G (p.Asn125Ser)	KRT16 (N125S)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 66608	NM_005557.4(KRT16):c.373A>G (p.Asn125Asp)	KRT16 (N125D)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 66607	NM_005557.4(KRT16):c.371_373del (p.Leu124_Asn125delinsHis)	KRT16	Deletion (inframe_indel)	not provided	Gnot provided
Select item 66606	NM_005557.4(KRT16):c.371T>C (p.Leu124Pro)	KRT16 (L124P)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 66605	NM_005557.4(KRT16):c.371T>A (p.Leu124His)	KRT16 (L124H)	Single nucleotide variant (missense variant)	Pachyonychia congenita 1 +2 more	GPathogenic/Likely pathogenic
Select item 14606	NM_005557.4(KRT16):c.371T>G (p.Leu124Arg)	KRT16 (L124R)	Single nucleotide variant (missense variant)	Pachyonychia congenita 1	GPathogenic
Select item 216955	NM_005557.4(KRT16):c.365A>G (p.Gln122Arg)	KRT16 (Q122R)	Single nucleotide variant (missense variant)	Pachyonychia congenita 1	GLikely pathogenic
Select item 14605	NM_005557.4(KRT16):c.365A>C (p.Gln122Pro)	KRT16 (Q122P)	Single nucleotide variant (missense variant)	Pachyonychia congenita 1	GPathogenic
Select item 419351	NM_005557.4(KRT16):c.362T>G (p.Met121Arg)	KRT16 (M121R)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 66604	NM_005557.4(KRT16):c.362T>A (p.Met121Lys)	KRT16 (M121K)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 14608	NM_005557.4(KRT16):c.362T>C (p.Met121Thr)	KRT16 (M121T)	Single nucleotide variant (missense variant)	Palmoplantar keratoderma, nonepidermolytic, focal 1 +2 more	GPathogenic/Likely pathogenic
Select item 711188	NM_005557.4(KRT16):c.337del (p.Leu113fs)	KRT16 (L113fs)	Deletion (frameshift variant)	not provided	GLikely benign
Select item 2056302	NM_005557.4(KRT16):c.336T>C (p.Leu112=)	KRT16	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 66603	NM_005557.4(KRT16):c.316_327del (p.Phe106_Gly109del)	KRT16	Deletion (inframe_deletion)	not provided	Gnot provided
Select item 1082832	NM_005557.4(KRT16):c.306T>G (p.Phe102Leu)	KRT16 (F102L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2056880	NM_005557.4(KRT16):c.299C>G (p.Ala100Gly)	KRT16 (A100G)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2730171	NM_005557.4(KRT16):c.282C>T (p.Phe94=)	KRT16	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2360210	NM_005557.4(KRT16):c.265G>A (p.Gly89Ser)	KRT16 (G89S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 730420	NM_005557.4(KRT16):c.246C>T (p.Phe82=)	KRT16	Single nucleotide variant (synonymous variant)	not provided	GBenign

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