KRT85[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	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 153751	GRCh38/hg38 12q13.12-13.13(chr12:50122359-53248460)x1	LOC130007898, LOC130007899 +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 145013	GRCh38/hg38 12q13.13(chr12:52310983-52385900)x3	LOC132090112, LOC132090113 +4 more	Copy number gain	See cases	GBenign
Select item 1265105	NM_002283.4(KRT85):c.*147C>A	KRT85	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1280746	NM_002283.4(KRT85):c.*122A>G	KRT85	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 3019603	NM_002283.4(KRT85):c.1494C>T (p.Cys498=)	KRT85	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2542193	NM_002283.4(KRT85):c.1486T>C (p.Phe496Leu)	KRT85 (F496L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116773	NM_002283.4(KRT85):c.1457G>A (p.Cys486Tyr)	KRT85 (C274Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 102444	NM_002283.4(KRT85):c.1448_1449del (p.Pro483fs)	KRT85 (P483fs +1 more)	Deletion (frameshift variant)	Ectodermal dysplasia 4, hair/nail type	GPathogenic
Select item 3116771	NM_002283.4(KRT85):c.1436C>G (p.Thr479Arg)	KRT85 (T479R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602242	NM_002283.4(KRT85):c.1434C>G (p.Ile478Met)	KRT85 (I266M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260545	NM_002283.4(KRT85):c.1408G>C (p.Gly470Arg)	KRT85 (G258R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289581	NM_002283.4(KRT85):c.1399A>C (p.Ile467Leu)	KRT85 (I255L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2161757	NM_002283.4(KRT85):c.1394G>A (p.Arg465His)	KRT85 (R253H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2084189	NM_002283.4(KRT85):c.1393C>T (p.Arg465Cys)	KRT85 (R465C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3058188	NM_002283.4(KRT85):c.1386C>T (p.Thr462=)	KRT85	Single nucleotide variant (synonymous variant)	KRT85-related disorder	GLikely benign
Select item 3289579	NM_002283.4(KRT85):c.1364G>C (p.Gly455Ala)	KRT85 (G455A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116770	NM_002283.4(KRT85):c.1361G>A (p.Cys454Tyr)	KRT85 (C242Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1234886	NM_002283.4(KRT85):c.1331-123C>T	KRT85	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231043	NM_002283.4(KRT85):c.1330+154T>A	KRT85	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288804	NM_002283.4(KRT85):c.1330+62T>C	KRT85	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2078791	NM_002283.4(KRT85):c.1313T>C (p.Val438Ala)	KRT85 (V438A +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2956856	NM_002283.4(KRT85):c.1299-8C>A	KRT85	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1230825	NM_002283.4(KRT85):c.1299-59A>G	KRT85	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2533811	NM_002283.4(KRT85):c.1294C>G (p.His432Asp)	KRT85 (H432D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514910	NM_002283.4(KRT85):c.1274G>A (p.Arg425His)	KRT85 (R425H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2065645	NM_002283.4(KRT85):c.1170C>T (p.Gly390=)	KRT85	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2162820	NM_002283.4(KRT85):c.1168G>A (p.Gly390Ser)	KRT85 (G178S +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2050438	NM_002283.4(KRT85):c.1167G>A (p.Glu389=)	KRT85	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2862566	NM_002283.4(KRT85):c.1158T>C (p.Ala386=)	KRT85	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3289574	NM_002283.4(KRT85):c.1079G>A (p.Arg360His)	KRT85 (R148H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1987795	NM_002283.4(KRT85):c.1078-17G>A	KRT85	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2178418	NM_002283.4(KRT85):c.1054G>A (p.Glu352Lys)	KRT85 (E140K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2955892	NM_002283.4(KRT85):c.1053C>T (p.Ala351=)	KRT85	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1274927	NM_002283.4(KRT85):c.1050G>A (p.Thr350=)	KRT85	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2050439	NM_002283.4(KRT85):c.1047G>C (p.Leu349=)	KRT85	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2042256	NM_002283.4(KRT85):c.1044G>A (p.Arg348=)	KRT85	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2020510	NM_002283.4(KRT85):c.1020C>T (p.Asn340=)	KRT85	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2479313	NM_002283.4(KRT85):c.977T>C (p.Ile326Thr)	KRT85 (I326T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2710770	NM_002283.4(KRT85):c.972G>T (p.Thr324=)	KRT85	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2055687	NM_002283.4(KRT85):c.971C>T (p.Thr324Met)	KRT85 (T112M +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1281547	NM_002283.4(KRT85):c.951+117G>T	KRT85	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2047199	NM_002283.4(KRT85):c.944G>A (p.Arg315His)	KRT85 (R103H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1299261	NM_002283.4(KRT85):c.943C>T (p.Arg315Cys)	KRT85 (R103C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2203069	NM_002283.4(KRT85):c.924C>T (p.Ala308=)	KRT85	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2052193	NM_002283.4(KRT85):c.924C>A (p.Ala308=)	KRT85	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2328854	NM_002283.4(KRT85):c.920G>A (p.Arg307Gln)	KRT85 (R307Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212694	NM_002283.4(KRT85):c.914G>A (p.Arg305His)	KRT85 (R305H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293794	NM_002283.4(KRT85):c.884T>A (p.Ile295Asn)	KRT85 (I295N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3346732	NM_002283.4(KRT85):c.825G>A (p.Ser275=)	KRT85	Single nucleotide variant (synonymous variant)	KRT85-related disorder	GLikely benign
Select item 638425	NM_002283.4(KRT85):c.823T>C (p.Ser275Pro)	KRT85 (S275P +1 more)	Single nucleotide variant (missense variant)	Ectodermal dysplasia 4, hair/nail type	GUncertain significance
Select item 2543669	NM_002283.4(KRT85):c.800T>C (p.Leu267Pro)	KRT85 (L267P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467459	NM_002283.4(KRT85):c.796G>A (p.Val266Ile)	KRT85 (V54I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3057368	NM_002283.4(KRT85):c.795C>T (p.Arg265=)	KRT85	Single nucleotide variant (synonymous variant)	KRT85-related disorder	GLikely benign
Select item 3030125	NM_002283.4(KRT85):c.793C>T (p.Arg265Cys)	KRT85 (R265C +1 more)	Single nucleotide variant (missense variant)	KRT85-related disorder	GUncertain significance
Select item 2083962	NM_002283.4(KRT85):c.773G>A (p.Arg258His)	KRT85 (R46H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3116775	NM_002283.4(KRT85):c.713G>A (p.Arg238Gln)	KRT85 (R238Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289575	NM_002283.4(KRT85):c.707A>G (p.Tyr236Cys)	KRT85 (Y236C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2043434	NM_002283.4(KRT85):c.700T>G (p.Cys234Gly)	KRT85 (C234G +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2303650	NM_002283.4(KRT85):c.694G>A (p.Val232Met)	KRT85 (V20M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3031716	NM_002283.4(KRT85):c.691-6G>C	KRT85	Single nucleotide variant (intron variant)	KRT85-related disorder	GLikely benign
Select item 2756203	NM_002283.4(KRT85):c.691-7C>T	KRT85	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3041839	NM_002283.4(KRT85):c.630-21C>T	KRT85 (P12S)	Single nucleotide variant (missense variant +1 more)	KRT85-related disorder	GBenign
Select item 2608495	NM_002283.4(KRT85):c.622A>G (p.Lys208Glu)	KRT85 (K208E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507545	NM_002283.4(KRT85):c.571G>A (p.Gly191Arg)	KRT85 (G191R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1556185	NM_002283.4(KRT85):c.565G>A (p.Asp189Asn)	KRT85 (D189N)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2048228	NM_002283.4(KRT85):c.564C>T (p.Ala188=)	KRT85	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2755527	NM_002283.4(KRT85):c.556G>A (p.Val186Met)	KRT85 (V186M)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2081288	NM_002283.4(KRT85):c.550G>A (p.Glu184Lys)	KRT85 (E184K)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2055735	NM_002283.4(KRT85):c.549C>T (p.Ala183=)	KRT85	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2293874	NM_002283.4(KRT85):c.493G>A (p.Glu165Lys)	KRT85 (E165K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289576	NM_002283.4(KRT85):c.484C>T (p.Arg162Cys)	KRT85 (R162C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116774	NM_002283.4(KRT85):c.470T>C (p.Phe157Ser)	KRT85 (F157S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1311927	NM_002283.4(KRT85):c.433G>C (p.Glu145Gln)	KRT85 (E145Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1951601	NM_002283.4(KRT85):c.425G>A (p.Arg142His)	KRT85 (R142H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2264090	NM_002283.4(KRT85):c.424C>T (p.Arg142Cys)	KRT85 (R142C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1286230	NM_002283.4(KRT85):c.421-40C>G	KRT85	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237542	NM_002283.4(KRT85):c.421-285C>T	KRT85	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268626	NM_002283.4(KRT85):c.420+300GT[4]	KRT85	Microsatellite (intron variant)	not provided	GBenign
Select item 1234908	NM_002283.4(KRT85):c.420+38C>T	KRT85	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2488524	NM_002283.4(KRT85):c.402C>G (p.Phe134Leu)	KRT85 (F134L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289578	NM_002283.4(KRT85):c.380T>A (p.Ile127Asn)	KRT85 (I127N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225125	NM_002283.4(KRT85):c.345C>A (p.Asn115Lys)	KRT85 (N115K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593002	NM_002283.4(KRT85):c.304G>A (p.Glu102Lys)	KRT85 (E102K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2414091	NM_002283.4(KRT85):c.288T>C (p.Thr96=)	KRT85	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2169149	NM_002283.4(KRT85):c.267A>G (p.Gly89=)	KRT85	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1992017	NM_002283.4(KRT85):c.265G>A (p.Gly89Arg)	KRT85 (G89R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 6836	NM_002283.4(KRT85):c.233G>A (p.Arg78His)	KRT85 (R78H)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 1933171	NM_002283.4(KRT85):c.228C>A (p.Cys76Ter)	KRT85 (C76*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2044082	NM_002283.4(KRT85):c.212T>C (p.Phe71Ser)	KRT85 (F71S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2754679	NM_002283.4(KRT85):c.207T>G (p.Gly69=)	KRT85	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2322645	NM_002283.4(KRT85):c.190C>A (p.Pro64Thr)	KRT85 (P64T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2130584	NM_002283.4(KRT85):c.168C>T (p.Leu56=)	KRT85	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1275016	NM_002283.4(KRT85):c.147G>A (p.Thr49=)	KRT85	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3116772	NM_002283.4(KRT85):c.143T>A (p.Leu48Gln)	KRT85 (L48Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474763	NM_002283.4(KRT85):c.130T>G (p.Cys44Gly)	KRT85 (C44G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289580	NM_002283.4(KRT85):c.128C>T (p.Ser43Phe)	KRT85 (S43F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2722256	NM_002283.4(KRT85):c.114C>T (p.Pro38=)	KRT85	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2622047	NM_002283.4(KRT85):c.68C>T (p.Ala23Val)	KRT85 (A23V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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