"GeneDx"[submitter] AND "KRT86"[gene] - ClinVar

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Search results

Items: 83

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1253561	NM_002281.4(KRT81):c.*102G>C	KRT81, KRT86	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1273289	NM_002281.4(KRT81):c.*31A>G	KRT81, KRT86	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1264106	NM_002281.4(KRT81):c.1385C>T (p.Ala462Val)	KRT81, KRT86 (A462V)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1224979	NM_002281.4(KRT81):c.1247+120C>T	KRT81, KRT86	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 7502	NM_002281.4(KRT81):c.1204G>A (p.Glu402Lys)	KRT81, KRT86 (E402K)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 1257332	NM_002281.4(KRT81):c.1077G>A (p.Ala359=)	KRT81, KRT86	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1178574	NM_002281.4(KRT81):c.1053C>T (p.Ala351=)	KRT81, KRT86	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1204430	NM_002281.4(KRT81):c.1027-51T>C	KRT81, KRT86	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1229736	NM_002281.4(KRT81):c.1026+98A>G	KRT81, KRT86	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1220978	NM_002281.4(KRT81):c.990A>G (p.Gln330=)	KRT81, KRT86	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1265534	NM_002281.4(KRT81):c.969T>C (p.Asn323=)	KRT81, KRT86	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2580774	NM_002281.4(KRT81):c.949C>T (p.Arg317Cys)	KRT81, KRT86 (R317C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1275631	NM_002281.4(KRT81):c.946C>T (p.Arg316Cys)	KRT81, KRT86 (R316C)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign/Likely benign
Select item 1274144	NM_002281.4(KRT81):c.901-28A>G	KRT81, KRT86	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278097	NM_002281.4(KRT81):c.900+54A>G	KRT81, KRT86	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277463	NM_002281.4(KRT81):c.900+35T>G	KRT81, KRT86	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279580	NM_002281.4(KRT81):c.743T>G (p.Leu248Arg)	KRT81, KRT86 (L248R)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1180408	NM_002281.4(KRT81):c.736-36A>G	KRT81, KRT86	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 66545	NM_002281.4(KRT81):c.735+4C>T	KRT86, KRT81	Single nucleotide variant (intron variant)	Beaded hair +1 more	GBenign
Select item 1195769	NM_002281.4(KRT81):c.579-288G>A	KRT81, KRT86	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1202226	NM_002281.4(KRT81):c.416A>C (p.Gln139Pro)	KRT81, KRT86 (Q139P)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1197650	NM_002281.4(KRT81):c.370-9G>A	KRT81, KRT86	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1194898	NM_002281.4(KRT81):c.370-260_370-259insT	KRT81, KRT86	Insertion (intron variant)	not provided	GLikely benign
Select item 1223403	NM_002281.4(KRT81):c.297G>A (p.Ala99=)	KRT81, KRT86	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1217743	NM_002281.4(KRT81):c.60G>C (p.Pro20=)	KRT81, KRT86	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1222198	NM_002281.4(KRT81):c.37A>C (p.Ser13Arg)	KRT81, KRT86 (S13R)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1277634	NC_000012.12:g.52291649C>G	KRT81, KRT86	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1198484	NC_000012.12:g.52291729G>T	KRT81, KRT86	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1286726	NC_000012.12:g.52291761C>T	KRT81, KRT86	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267877	NM_001320198.2(KRT86):c.-4-67C>T	KRT86	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248361	NM_001320198.2(KRT86):c.54C>T (p.Cys18=)	KRT86	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1219942	NM_001320198.2(KRT86):c.60C>G (p.Pro20=)	KRT86	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1229890	NM_001320198.2(KRT86):c.87C>T (p.Ala29=)	KRT86	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 66547	NM_001320198.2(KRT86):c.197G>A (p.Arg66His)	KRT86 (R66H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 66549	NM_001320198.2(KRT86):c.348G>A (p.Arg116=)	KRT86	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1279587	NM_001320198.2(KRT86):c.370-249dup	KRT81, KRT86	Duplication (intron variant)	not provided	GBenign
Select item 1239998	NM_001320198.2(KRT86):c.370-250_370-249dup	KRT81, KRT86	Duplication (intron variant)	not provided	GBenign
Select item 1232546	NM_001320198.2(KRT86):c.370-250_370-249del	KRT81, KRT86	Deletion (intron variant)	not provided	GBenign
Select item 1181947	NM_001320198.2(KRT86):c.370-249del	KRT81, KRT86	Deletion (intron variant)	not provided	GBenign
Select item 1260606	NM_001320198.2(KRT86):c.370-255_370-254insA	KRT81, KRT86	Insertion (intron variant)	not provided	GBenign
Select item 1186158	NM_001320198.2(KRT86):c.370-9G>A	KRT86	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 66550	NM_001320198.2(KRT86):c.416A>C (p.Gln139Pro)	KRT86 (Q139P)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1252633	NM_001320198.2(KRT86):c.578+178G>C	KRT86	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288973	NM_001320198.2(KRT86):c.579-151T>C	KRT81, KRT86	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229418	NM_001320198.2(KRT86):c.579-147A>C	KRT81, KRT86	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1182098	NM_001320198.2(KRT86):c.579-144C>G	KRT81, KRT86	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271070	NM_001320198.2(KRT86):c.579-93T>C	KRT86	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228047	NM_001320198.2(KRT86):c.579-89C>T	KRT86	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227864	NM_001320198.2(KRT86):c.579-86G>C	KRT86	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283930	NM_001320198.2(KRT86):c.636G>A (p.Lys212=)	KRT86	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1204041	NM_001320198.2(KRT86):c.639+269_639+271del	KRT81, KRT86	Deletion (intron variant)	not provided	GLikely benign
Select item 1182982	NM_001320198.2(KRT86):c.639+269C>T	KRT86, KRT81	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263821	NM_001320198.2(KRT86):c.639+271A>G	KRT81, KRT86	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273700	NM_001320198.2(KRT86):c.639+273T>G	KRT81, KRT86	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264488	NM_001320198.2(KRT86):c.639+275C>T	KRT81, KRT86	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1210647	NM_001320198.2(KRT86):c.639+275del	KRT86, KRT81	Deletion (intron variant)	not provided	GLikely benign
Select item 1191631	NM_001320198.2(KRT86):c.639+277_639+278insGTTT	KRT81, KRT86	Insertion (intron variant)	not provided	GLikely benign
Select item 1246025	NM_001320198.2(KRT86):c.639+280G>T	KRT81, KRT86	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1179229	NM_001320198.2(KRT86):c.639+281C>T	KRT81, KRT86	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272008	NM_001320198.2(KRT86):c.639+290C>A	KRT81, KRT86	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245169	NM_001320198.2(KRT86):c.639+301A>T	KRT81, KRT86	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1224561	NM_001320198.2(KRT86):c.684T>C (p.Asn228=)	KRT86	Single nucleotide variant (synonymous variant)	Beaded hair +1 more	GBenign/Likely benign
Select item 1215048	NM_001320198.2(KRT86):c.736-60T>C	KRT81, KRT86	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1203089	NM_001320198.2(KRT86):c.756C>G (p.Ser252=)	KRT81, KRT86	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1268982	NM_001320198.2(KRT86):c.873T>C (p.Ala291=)	KRT86	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1249366	NM_001320198.2(KRT86):c.900+25G>T	KRT86	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1216694	NM_001320198.2(KRT86):c.900+114C>T	KRT81, KRT86	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1204798	NM_001320198.2(KRT86):c.901-28A>G	KRT86	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1252238	NM_001320198.2(KRT86):c.1002T>C (p.Ala334=)	KRT86	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1266646	NM_001320198.2(KRT86):c.1027-116G>A	KRT86	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1207369	NM_001320198.2(KRT86):c.1027-15C>T	KRT86	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1193794	NM_001320198.2(KRT86):c.1044T>C (p.Ala348=)	KRT86	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1224621	NM_001320198.2(KRT86):c.1247+36C>A	KRT86	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1209205	NM_001320198.2(KRT86):c.1247+191C>G	KRT81, KRT86	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1268874	NM_001320198.2(KRT86):c.1248-309T>C	KRT81, KRT86	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1194830	NM_001320198.2(KRT86):c.1248-271T>C	KRT81, KRT86	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1215565	NM_001320198.2(KRT86):c.1248-152C>T	KRT86	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1284069	NM_001320198.2(KRT86):c.*94A>G	KRT86	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1179347	NM_001320198.2(KRT86):c.*127C>T	KRT86	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1264242	NM_001320198.2(KRT86):c.*264G>A	KRT86	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1269078	NM_001320198.2(KRT86):c.*279dup	KRT86	Duplication (3 prime UTR variant)	not provided	GBenign
Select item 1237101	NM_001320198.2(KRT86):c.278_279dup	KRT86	Duplication (3 prime UTR variant)	not provided	GBenign
Select item 1260744	NM_001320198.2(KRT86):c.*287A>G	KRT86	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign

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Items: 83