"GeneDx"[submitter] AND "KRT81"[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 54

	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 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 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 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 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 1216694	NM_001320198.2(KRT86):c.900+114C>T	KRT81, KRT86	Single nucleotide variant (intron variant)	not provided	GLikely benign
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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 54