KRT6C[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	LOC126861648, LOC126861649 +4836 more	Copy number gain	See cases	GPathogenic
Select item 153751	GRCh38/hg38 12q13.12-13.13(chr12:50122359-53248460)x1	ACVRL1, ANKRD33 +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 157253	NM_005555.3(KRT6B):c.-16752_-90del	KRT6C	Deletion	Normal pregnancy	Gnot provided
Select item 3053196	NM_173086.5(KRT6C):c.1694A>G (p.Ter565=)	KRT6C	Single nucleotide variant (synonymous variant)	KRT6C-related condition	GLikely benign
Select item 1989420	NM_173086.5(KRT6C):c.1680G>A (p.Lys560=)	KRT6C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2885506	NM_173086.5(KRT6C):c.1632C>T (p.Gly544=)	KRT6C	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2721628	NM_173086.5(KRT6C):c.1630G>A (p.Gly544Ser)	KRT6C (G544S)	Single nucleotide variant (missense variant)	KRT6C-related condition +1 more	GBenign/Likely benign
Select item 1600014	NM_173086.5(KRT6C):c.1613G>C (p.Gly538Ala)	KRT6C (G538A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2054787	NM_173086.5(KRT6C):c.1604T>C (p.Ile535Thr)	KRT6C (I535T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 3003485	NM_173086.5(KRT6C):c.1573G>A (p.Gly525Ser)	KRT6C (G525S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1049810	NM_173086.5(KRT6C):c.1568T>A (p.Ile523Asn)	KRT6C (I523N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1564392	NM_173086.5(KRT6C):c.1567A>G (p.Ile523Val)	KRT6C (I523V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 739861	NM_173086.5(KRT6C):c.1544A>C (p.Tyr515Ser)	KRT6C (Y515S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 725866	NM_173086.5(KRT6C):c.1524C>T (p.Gly508=)	KRT6C	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2978654	NM_173086.5(KRT6C):c.1511G>A (p.Gly504Asp)	KRT6C (G504D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2143110	NM_173086.5(KRT6C):c.1510G>A (p.Gly504Ser)	KRT6C (G504S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1567083	NM_173086.5(KRT6C):c.1509C>T (p.Val503=)	KRT6C	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1300090	NM_173086.5(KRT6C):c.1503C>T (p.Ser501=)	KRT6C	Single nucleotide variant (synonymous variant)	KRT6C-related condition +2 more	GBenign
Select item 1159139	NM_173086.5(KRT6C):c.1477A>G (p.Ile493Val)	KRT6C (I493V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 739767	NM_173086.5(KRT6C):c.1467A>G (p.Val489=)	KRT6C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2705564	NM_173086.5(KRT6C):c.1460-6C>T	KRT6C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1300091	NM_173086.5(KRT6C):c.1460-10C>A	KRT6C	Single nucleotide variant (intron variant)	KRT6C-related condition +2 more	GBenign
Select item 2787616	NM_173086.5(KRT6C):c.1460-15C>T	KRT6C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2701612	NM_173086.5(KRT6C):c.1456G>A (p.Val486Ile)	KRT6C (V486I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2693784	NM_173086.5(KRT6C):c.1455C>T (p.Asn485=)	KRT6C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2242915	NM_173086.5(KRT6C):c.1444G>A (p.Gly482Arg)	KRT6C (G482R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1300092	NM_173086.5(KRT6C):c.1441G>A (p.Val481Ile)	KRT6C (V481I)	Single nucleotide variant (missense variant)	KRT6C-related condition +2 more	GBenign
Select item 2371361	NM_173086.5(KRT6C):c.1435G>A (p.Glu479Lys)	KRT6C (E479K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2722165	NM_173086.5(KRT6C):c.1434C>T (p.Gly478=)	KRT6C	Single nucleotide variant (synonymous variant)	KRT6C-related condition +1 more	GBenign/Likely benign
Select item 2465346	NM_173086.5(KRT6C):c.1426C>G (p.Leu476Val)	KRT6C (L476V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 739768	NM_173086.5(KRT6C):c.1424+3A>G	KRT6C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 126527	NM_173086.5(KRT6C):c.1414G>A (p.Glu472Lys)	KRT6C (E472K)	Single nucleotide variant (missense variant)	Palmoplantar keratoderma, nonepidermolytic, focal or diffuse +1 more	GPathogenic/Likely pathogenic
Select item 66966	NM_173086.5(KRT6C):c.1384_1410del (p.Ile462_Glu470del)	KRT6C	Deletion (inframe_deletion)	Focal palmoplantar keratoderma	GPathogenic
Select item 2901786	NM_173086.5(KRT6C):c.1396C>T (p.Arg466Cys)	KRT6C (R466C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2180311	NM_173086.5(KRT6C):c.1377T>C (p.Asp459=)	KRT6C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2081595	NM_173086.5(KRT6C):c.1359T>C (p.Asn453=)	KRT6C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 778594	NM_173086.5(KRT6C):c.1353G>A (p.Leu451=)	KRT6C	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2749490	NM_173086.5(KRT6C):c.1328G>A (p.Arg443Gln)	KRT6C (R443Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2385217	NM_173086.5(KRT6C):c.1315C>G (p.Gln439Glu)	KRT6C (Q439E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1300093	NM_173086.5(KRT6C):c.1314G>A (p.Lys438=)	KRT6C	Single nucleotide variant (synonymous variant)	KRT6C-related condition +2 more	GBenign
Select item 768547	NM_173086.5(KRT6C):c.1257A>C (p.Ala419=)	KRT6C	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 2370424	NM_173086.5(KRT6C):c.1256C>T (p.Ala419Val)	KRT6C (A419V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2307333	NM_173086.5(KRT6C):c.1244G>A (p.Arg415His)	KRT6C (R415H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2618396	NM_173086.5(KRT6C):c.1243C>T (p.Arg415Cys)	KRT6C (R415C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2182720	NM_173086.5(KRT6C):c.1204-8C>T	KRT6C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2309404	NM_173086.5(KRT6C):c.1183A>T (p.Ile395Phe)	KRT6C (I395F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2045049	NM_173086.5(KRT6C):c.1157G>A (p.Arg386His)	KRT6C (R386H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2983704	NM_173086.5(KRT6C):c.1116C>G (p.Asp372Glu)	KRT6C (D372E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2160303	NM_173086.5(KRT6C):c.1116C>T (p.Asp372=)	KRT6C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 726601	NM_173086.5(KRT6C):c.1080C>T (p.Tyr360=)	KRT6C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2697190	NM_173086.5(KRT6C):c.1077+12G>A	KRT6C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2256809	NM_173086.5(KRT6C):c.1064G>C (p.Trp355Ser)	KRT6C (W355S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2080334	NM_173086.5(KRT6C):c.1059G>A (p.Glu353=)	KRT6C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1979728	NM_173086.5(KRT6C):c.1045C>T (p.Arg349Trp)	KRT6C (R349W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 774215	NM_173086.5(KRT6C):c.1045C>A (p.Arg349=)	KRT6C	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2155988	NM_173086.5(KRT6C):c.1041G>A (p.Arg347=)	KRT6C	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1632336	NM_173086.5(KRT6C):c.1023C>T (p.Tyr341=)	KRT6C	Single nucleotide variant (synonymous variant)	KRT6C-related condition +1 more	GBenign
Select item 2619658	NM_173086.5(KRT6C):c.995G>A (p.Ser332Asn)	KRT6C (S332N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2191222	NM_173086.5(KRT6C):c.991G>C (p.Asp331His)	KRT6C (D331H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2139739	NM_173086.5(KRT6C):c.986A>C (p.Asp329Ala)	KRT6C (D329A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2065625	NM_173086.5(KRT6C):c.977G>A (p.Arg326His)	KRT6C (R326H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2352182	NM_173086.5(KRT6C):c.971A>T (p.Asn324Ile)	KRT6C (N324I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3040614	NM_173086.5(KRT6C):c.960A>G (p.Leu320=)	KRT6C	Single nucleotide variant (synonymous variant)	KRT6C-related condition	GLikely benign
Select item 2475274	NM_173086.5(KRT6C):c.959T>C (p.Leu320Pro)	KRT6C (L320P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 775309	NM_173086.5(KRT6C):c.951C>T (p.Ser317=)	KRT6C	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 722588	NM_173086.5(KRT6C):c.897A>G (p.Arg299=)	KRT6C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 741017	NM_173086.5(KRT6C):c.891C>T (p.Phe297=)	KRT6C	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 717355	NM_173086.5(KRT6C):c.879T>C (p.Asp293=)	KRT6C	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 776705	NM_173086.5(KRT6C):c.873C>T (p.Leu291=)	KRT6C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1300094	NM_173086.5(KRT6C):c.816+13A>G	KRT6C	Single nucleotide variant (intron variant)	Palmoplantar keratoderma, nonepidermolytic, focal or diffuse	GBenign
Select item 1300095	NM_173086.5(KRT6C):c.755+13T>C	KRT6C	Single nucleotide variant (intron variant)	Palmoplantar keratoderma, nonepidermolytic, focal or diffuse	GBenign
Select item 2402090	NM_173086.5(KRT6C):c.706G>T (p.Asp236Tyr)	KRT6C (D236Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2643021	NM_173086.5(KRT6C):c.702C>T (p.Arg234=)	KRT6C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1176945	NM_173086.5(KRT6C):c.700C>G (p.Arg234Gly)	KRT6C (R234G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2348902	NM_173086.5(KRT6C):c.695G>A (p.Arg232Gln)	KRT6C (R232Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1300096	NM_173086.5(KRT6C):c.687C>G (p.Val229=)	KRT6C	Single nucleotide variant (synonymous variant)	KRT6C-related condition +1 more	GBenign
Select item 3056771	NM_173086.5(KRT6C):c.680G>A (p.Ser227Asn)	KRT6C (S227N)	Single nucleotide variant (missense variant)	KRT6C-related condition	GBenign
Select item 3025939	NM_173086.5(KRT6C):c.660C>A (p.Asn220Lys)	KRT6C (N220K)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1300097	NM_173086.5(KRT6C):c.545G>A (p.Arg182Gln)	KRT6C (R182Q)	Single nucleotide variant (missense variant)	Palmoplantar keratoderma, nonepidermolytic, focal or diffuse	GBenign
Select item 3039391	NM_173086.5(KRT6C):c.541-6T>C	KRT6C	Single nucleotide variant (intron variant)	KRT6C-related condition	GLikely benign
Select item 126525	NM_173086.5(KRT6C):c.510CAA[2] (p.Asn172del)	KRT6C (N172del)	Microsatellite (inframe_deletion)	Focal palmoplantar keratoderma	GPathogenic
Select item 2643022	NM_173086.5(KRT6C):c.477G>A (p.Val159=)	KRT6C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2643023	NM_173086.5(KRT6C):c.459C>T (p.Asp153=)	KRT6C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1300098	NM_173086.5(KRT6C):c.428G>A (p.Ser143Asn)	KRT6C (S143N)	Single nucleotide variant (missense variant)	Palmoplantar keratoderma, nonepidermolytic, focal or diffuse	GBenign
Select item 1300099	NM_173086.5(KRT6C):c.417C>T (p.Thr139=)	KRT6C	Single nucleotide variant (synonymous variant)	Palmoplantar keratoderma, nonepidermolytic, focal or diffuse	GBenign
Select item 2337975	NM_173086.5(KRT6C):c.376G>A (p.Gly126Ser)	KRT6C (G126S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2366167	NM_173086.5(KRT6C):c.364T>C (p.Phe122Leu)	KRT6C (F122L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3059266	NM_173086.5(KRT6C):c.332G>A (p.Gly111Asp)	KRT6C (G111D)	Single nucleotide variant (missense variant)	KRT6C-related condition	GBenign
Select item 3045913	NM_173086.5(KRT6C):c.318C>A (p.Ala106=)	KRT6C	Single nucleotide variant (synonymous variant)	KRT6C-related condition	GLikely benign
Select item 3067280	NM_173086.5(KRT6C):c.307G>A (p.Gly103Ser)	KRT6C (G103S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2477584	NM_173086.5(KRT6C):c.298T>G (p.Phe100Val)	KRT6C (F100V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2643024	NM_173086.5(KRT6C):c.294T>C (p.Ser98=)	KRT6C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3060577	NM_173086.5(KRT6C):c.262G>A (p.Gly88Arg)	KRT6C (G88R)	Single nucleotide variant (missense variant)	KRT6C-related condition	GBenign
Select item 2643025	NM_173086.5(KRT6C):c.251G>A (p.Gly84Asp)	KRT6C (G84D)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2404606	NM_173086.5(KRT6C):c.244G>A (p.Gly82Ser)	KRT6C (G82S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1300100	NM_173086.5(KRT6C):c.198C>A (p.Gly66=)	KRT6C	Single nucleotide variant (synonymous variant)	KRT6C-related condition +1 more	GBenign
Select item 1675497	NM_173086.5(KRT6C):c.183_184insCTTA (p.Tyr62fs)	KRT6C (Y62fs)	Insertion (frameshift variant)	not provided	GUncertain significance
Select item 2643026	NM_173086.5(KRT6C):c.183G>T (p.Leu61=)	KRT6C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1300101	NM_173086.5(KRT6C):c.183G>A (p.Leu61=)	KRT6C	Single nucleotide variant (synonymous variant)	KRT6C-related condition +1 more	GBenign

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