ClinVar for MedGen (Select 108185) - ClinVar

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Items: 95

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2433271	NM_002281.4(KRT81):c.2T>G (p.Met1Arg)	KRT81, KRT86 (M1R)	Single nucleotide variant (missense variant +2 more)	Beaded hair	GUncertain significance
Select item 1224561	NM_001320198.2(KRT86):c.684T>C (p.Asn228=)	KRT81, KRT86	Single nucleotide variant (synonymous variant)	Beaded hair +1 more	GBenign/Likely benign
Select item 884068	NM_002282.3(KRT83):c.192C>A (p.Cys64Ter)	KRT83 (C64*)	Single nucleotide variant (nonsense)	Beaded hair	GBenign
Select item 884067	NM_002282.3(KRT83):c.260C>T (p.Ser87Leu)	KRT83 (S87L)	Single nucleotide variant (missense variant)	Beaded hair	GUncertain significance
Select item 884066	NM_002282.3(KRT83):c.363A>G (p.Arg121=)	KRT83	Single nucleotide variant (synonymous variant)	Beaded hair	GBenign
Select item 884065	NM_002282.3(KRT83):c.389G>A (p.Arg130His)	KRT83 (R130H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 883999	NM_002282.3(KRT83):c.945G>A (p.Arg315=)	KRT83	Single nucleotide variant (synonymous variant)	KRT83-related condition +1 more	GBenign/Likely benign
Select item 883920	NM_002282.3(KRT83):c.*135C>T	KRT83	Single nucleotide variant (3 prime UTR variant)	Beaded hair	GUncertain significance
Select item 883919	NM_002282.3(KRT83):c.*268A>C	KRT83	Single nucleotide variant (3 prime UTR variant)	Beaded hair	GUncertain significance
Select item 883255	NM_002282.3(KRT83):c.520G>C (p.Val174Leu)	KRT83 (V174L)	Single nucleotide variant (missense variant)	Beaded hair	GBenign
Select item 882054	NM_002282.3(KRT83):c.1302C>A (p.Ser434Arg)	KRT83 (S434R)	Single nucleotide variant (missense variant)	Beaded hair	GLikely benign
Select item 882053	NM_002282.3(KRT83):c.1327G>A (p.Gly443Arg)	KRT83 (G443R)	Single nucleotide variant (missense variant)	Beaded hair +1 more	GBenign/Likely benign
Select item 882052	NM_002282.3(KRT83):c.1356G>A (p.Pro452=)	KRT83	Single nucleotide variant (synonymous variant)	Beaded hair	GUncertain significance
Select item 880774	NM_002282.3(KRT83):c.-58C>A	KRT83	Single nucleotide variant (5 prime UTR variant)	Beaded hair	GUncertain significance
Select item 880710	NM_002282.3(KRT83):c.790G>A (p.Val264Met)	KRT83 (V264M)	Single nucleotide variant (missense variant)	Beaded hair +1 more	GBenign
Select item 880709	NM_002282.3(KRT83):c.828G>A (p.Met276Ile)	KRT83 (M276I)	Single nucleotide variant (missense variant)	Beaded hair	GConflicting classifications of pathogenicity
Select item 880641	NM_002282.3(KRT83):c.1425C>T (p.Pro475=)	KRT83	Single nucleotide variant (synonymous variant)	Beaded hair	GUncertain significance
Select item 880640	NM_002282.3(KRT83):c.*60C>A	KRT83	Single nucleotide variant (3 prime UTR variant)	Beaded hair	GUncertain significance
Select item 880639	NM_002282.3(KRT83):c.*102T>G	KRT83	Single nucleotide variant (3 prime UTR variant)	Beaded hair	GUncertain significance
Select item 768546	NM_001320198.2(KRT86):c.1102T>C (p.Leu368=)	KRT81, KRT86	Single nucleotide variant (synonymous variant)	Beaded hair +1 more	GBenign/Likely benign
Select item 768545	NM_001320198.2(KRT86):c.1053T>C (p.Ala351=)	KRT81, KRT86	Single nucleotide variant (synonymous variant)	Beaded hair +1 more	GBenign/Likely benign
Select item 561048	NM_002281.4(KRT81):c.846T>A (p.Tyr282Ter)	KRT81, KRT86 (Y282*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 446110	NM_002282.3(KRT83):c.1252G>A (p.Glu418Lys)	KRT83 (E418K)	Single nucleotide variant (missense variant)	Beaded hair	GPathogenic
Select item 309546	NM_002282.3(KRT83):c.67T>G (p.Cys23Gly)	KRT83 (C23G)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 309545	NM_002282.3(KRT83):c.83G>T (p.Ser28Ile)	KRT83 (S28I)	Single nucleotide variant (missense variant)	Beaded hair	GUncertain significance
Select item 309544	NM_002282.3(KRT83):c.147C>A (p.Gly49=)	KRT83	Single nucleotide variant (synonymous variant)	Beaded hair	GBenign
Select item 309543	NM_002282.3(KRT83):c.173G>C (p.Gly58Ala)	KRT83 (G58A)	Single nucleotide variant (missense variant)	Beaded hair	GUncertain significance
Select item 309542	NM_002282.3(KRT83):c.183C>T (p.Ala61=)	KRT83	Single nucleotide variant (synonymous variant)	Beaded hair	GUncertain significance
Select item 309541	NM_002282.3(KRT83):c.184G>A (p.Gly62Ser)	KRT83 (G62S)	Single nucleotide variant (missense variant)	Beaded hair	GUncertain significance
Select item 309540	NM_002282.3(KRT83):c.310G>A (p.Ala104Thr)	KRT83 (A104T)	Single nucleotide variant (missense variant)	Beaded hair	GLikely benign
Select item 309539	NM_002282.3(KRT83):c.312G>A (p.Ala104=)	KRT83	Single nucleotide variant (synonymous variant)	Beaded hair +1 more	GBenign
Select item 309538	NM_002282.3(KRT83):c.328GAG[1] (p.Glu111del)	KRT83 (E111del)	Microsatellite (inframe_deletion)	Beaded hair	GLikely benign
Select item 309537	NM_002282.3(KRT83):c.445C>T (p.Arg149Cys)	KRT83 (R149C)	Single nucleotide variant (missense variant)	KRT83-related condition +2 more	GBenign
Select item 309536	NM_002282.3(KRT83):c.452G>A (p.Cys151Tyr)	KRT83 (C151Y)	Single nucleotide variant (missense variant)	Beaded hair	GBenign
Select item 309535	NM_002282.3(KRT83):c.480T>C (p.Phe160=)	KRT83	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 309534	NM_002282.3(KRT83):c.485G>T (p.Gly162Val)	KRT83 (G162V)	Single nucleotide variant (missense variant)	Beaded hair	GUncertain significance
Select item 309533	NM_002282.3(KRT83):c.497C>G (p.Thr166Ser)	KRT83 (T166S)	Single nucleotide variant (missense variant)	Beaded hair	GBenign
Select item 309532	NM_002282.3(KRT83):c.502C>T (p.Arg168Trp)	KRT83 (R168W)	Single nucleotide variant (missense variant)	Beaded hair	GUncertain significance
Select item 309531	NM_002282.3(KRT83):c.514G>A (p.Glu172Lys)	KRT83 (E172K)	Single nucleotide variant (missense variant)	Beaded hair	GUncertain significance
Select item 309530	NM_002282.3(KRT83):c.593+15G>A	KRT83	Single nucleotide variant (intron variant)	Beaded hair	GBenign
Select item 309529	NM_002282.3(KRT83):c.601G>T (p.Glu201Ter)	KRT83 (E201*)	Single nucleotide variant (nonsense)	not provided +2 more	GBenign
Select item 309528	NM_002282.3(KRT83):c.599AAG[2] (p.Glu202del)	KRT83 (E202del)	Microsatellite (inframe_deletion)	Beaded hair +1 more	GBenign/Likely benign
Select item 309527	NM_002282.3(KRT83):c.633C>T (p.Asn211=)	KRT83	Single nucleotide variant (synonymous variant)	Beaded hair +1 more	GBenign
Select item 309526	NM_002282.3(KRT83):c.666C>A (p.Cys222Ter)	KRT83 (C222*)	Single nucleotide variant (nonsense)	KRT83-related condition +2 more	GBenign/Likely benign
Select item 309525	NM_002282.3(KRT83):c.666C>T (p.Cys222=)	KRT83	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 309524	NM_002282.3(KRT83):c.667G>A (p.Ala223Thr)	KRT83 (A223T)	Single nucleotide variant (missense variant)	Beaded hair	GLikely benign
Select item 309523	NM_002282.3(KRT83):c.676C>T (p.Arg226Cys)	KRT83 (R226C)	Single nucleotide variant (missense variant)	Beaded hair	GBenign
Select item 309522	NM_002282.3(KRT83):c.699C>T (p.Asn233=)	KRT83	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 309521	NM_002282.3(KRT83):c.750+15A>G	KRT83	Single nucleotide variant (intron variant)	Beaded hair +1 more	GBenign
Select item 309520	NM_002282.3(KRT83):c.760A>G (p.Ile254Val)	KRT83 (I254V)	Single nucleotide variant (missense variant)	Erythrokeratodermia variabilis et progressiva 5 +2 more	GBenign/Likely benign
Select item 309519	NM_002282.3(KRT83):c.768A>G (p.Gln256=)	KRT83	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 309518	NM_002282.3(KRT83):c.815G>A (p.Arg272Gln)	KRT83 (R272Q)	Single nucleotide variant (missense variant)	Beaded hair	GUncertain significance
Select item 309517	NM_002282.3(KRT83):c.837C>G (p.Ile279Met)	KRT83 (I279M)	Single nucleotide variant (missense variant)	Beaded hair +1 more	GBenign
Select item 309516	NM_002282.3(KRT83):c.843C>T (p.Ala281=)	KRT83	Single nucleotide variant (synonymous variant)	Beaded hair +1 more	GBenign
Select item 309515	NM_002282.3(KRT83):c.877C>T (p.Arg293Cys)	KRT83 (R293C)	Single nucleotide variant (missense variant)	Beaded hair +1 more	GConflicting classifications of pathogenicity
Select item 309514	NM_002282.3(KRT83):c.891G>C (p.Glu297Asp)	KRT83 (E297D)	Single nucleotide variant (missense variant)	Beaded hair	GUncertain significance
Select item 309513	NM_002282.3(KRT83):c.910A>T (p.Ser304Cys)	KRT83 (S304C)	Single nucleotide variant (missense variant)	Beaded hair	GBenign
Select item 309512	NM_002282.3(KRT83):c.957C>A (p.Thr319=)	KRT83	Single nucleotide variant (synonymous variant)	Beaded hair +1 more	GLikely benign
Select item 309511	NM_002282.3(KRT83):c.984C>T (p.Asn328=)	KRT83	Single nucleotide variant (synonymous variant)	Beaded hair +1 more	GBenign
Select item 309510	NM_002282.3(KRT83):c.1014A>G (p.Thr338=)	KRT83	Single nucleotide variant (synonymous variant)	Beaded hair	GUncertain significance
Select item 309509	NM_002282.3(KRT83):c.1017C>T (p.Ala339=)	KRT83	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 309508	NM_002282.3(KRT83):c.1018G>A (p.Glu340Lys)	KRT83 (E340K)	Single nucleotide variant (missense variant)	Beaded hair +1 more	GConflicting classifications of pathogenicity
Select item 309507	NM_002282.3(KRT83):c.1041+5C>T	KRT83	Single nucleotide variant (intron variant)	Beaded hair	GBenign
Select item 309506	NM_002282.3(KRT83):c.1041+6A>G	KRT83	Single nucleotide variant (intron variant)	Beaded hair +1 more	GBenign
Select item 309505	NM_002282.3(KRT83):c.1042-4C>A	KRT83	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 309504	NM_002282.3(KRT83):c.1056A>G (p.Glu352=)	KRT83	Single nucleotide variant (synonymous variant)	Beaded hair +1 more	GBenign
Select item 309503	NM_002282.3(KRT83):c.1059T>C (p.Ala353=)	KRT83	Single nucleotide variant (synonymous variant)	Beaded hair +1 more	GBenign
Select item 309502	NM_002282.3(KRT83):c.1084G>A (p.Gly362Ser)	KRT83 (G362S)	Single nucleotide variant (missense variant)	Beaded hair +1 more	GBenign
Select item 309501	NM_002282.3(KRT83):c.1100G>A (p.Ser367Asn)	KRT83 (S367N)	Single nucleotide variant (missense variant)	Beaded hair	GBenign
Select item 309500	NM_002282.3(KRT83):c.1268G>C (p.Cys423Ser)	KRT83 (C423S)	Single nucleotide variant (missense variant)	KRT83-related condition +2 more	GBenign/Likely benign
Select item 309499	NM_002282.3(KRT83):c.1332T>C (p.Asp444=)	KRT83	Single nucleotide variant (synonymous variant)	Beaded hair +1 more	GBenign
Select item 309498	NM_002282.3(KRT83):c.1338C>T (p.Cys446=)	KRT83	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 309497	NM_002282.3(KRT83):c.1398G>A (p.Leu466=)	KRT83	Single nucleotide variant (synonymous variant)	Beaded hair	GUncertain significance
Select item 309496	NM_002282.3(KRT83):c.1412G>A (p.Gly471Asp)	KRT83 (G471D)	Single nucleotide variant (missense variant)	KRT83-related condition +2 more	GBenign
Select item 309495	NM_002282.3(KRT83):c.1423C>T (p.Pro475Ser)	KRT83 (P475S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 309494	NM_002282.3(KRT83):c.1477C>T (p.His493Tyr)	KRT83 (H493Y)	Single nucleotide variant (missense variant)	Beaded hair +1 more	GBenign
Select item 309493	NM_002282.3(KRT83):c.*23G>T	KRT83	Single nucleotide variant (3 prime UTR variant)	Beaded hair	GBenign
Select item 309492	NM_002282.3(KRT83):c.*44C>T	KRT83	Single nucleotide variant (3 prime UTR variant)	Beaded hair	GUncertain significance
Select item 309491	NM_002282.3(KRT83):c.*107T>G	KRT83	Single nucleotide variant (3 prime UTR variant)	Beaded hair	GUncertain significance
Select item 309490	NM_002282.3(KRT83):c.*138C>T	KRT83	Single nucleotide variant (3 prime UTR variant)	Beaded hair +1 more	GBenign
Select item 309489	NM_002282.3(KRT83):c.*174C>T	KRT83	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 309488	NM_002282.3(KRT83):c.206_207del	KRT83	Deletion (3 prime UTR variant)	Beaded hair	GLikely benign
Select item 309487	NM_002282.3(KRT83):c.*225C>T	KRT83	Single nucleotide variant (3 prime UTR variant)	Beaded hair	GUncertain significance
Select item 309486	NM_002282.3(KRT83):c.*324del	KRT83	Deletion (3 prime UTR variant)	Beaded hair	GBenign
Select item 66546	NM_002282.3(KRT83):c.558C>T (p.Asn186=)	KRT83	Single nucleotide variant (synonymous variant)	Beaded hair +1 more	GBenign
Select item 66545	NM_002281.4(KRT81):c.735+4C>T	KRT81, KRT86	Single nucleotide variant (intron variant)	Beaded hair +1 more	GBenign
Select item 7614	NM_001320198.2(KRT86):c.353C>A (p.Ala118Glu)	KRT86, KRT81 (A118E)	Single nucleotide variant (missense variant)	Beaded hair	GPathogenic
Select item 7613	NM_001320198.2(KRT86):c.1204G>C (p.Glu402Gln)	KRT81, KRT86 (E402Q)	Single nucleotide variant (missense variant)	Beaded hair	GPathogenic
Select item 7612	NM_001320198.2(KRT86):c.340A>G (p.Asn114Asp)	KRT86, KRT81 (N114D)	Single nucleotide variant (missense variant)	Beaded hair	GPathogenic
Select item 7611	NM_001320198.2(KRT86):c.1204G>A (p.Glu402Lys)	KRT86, KRT81 (E402K)	Single nucleotide variant (missense variant)	Beaded hair	GPathogenic
Select item 7610	NM_001320198.2(KRT86):c.1239G>T (p.Glu413Asp)	KRT81, KRT86 (E413D)	Single nucleotide variant (missense variant)	Beaded hair	GPathogenic
Select item 7609	NM_001320198.2(KRT86):c.1237G>A (p.Glu413Lys)	KRT81, KRT86 (E413K)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 7502	NM_002281.4(KRT81):c.1204G>A (p.Glu402Lys)	KRT86, KRT81 (E402K)	Single nucleotide variant (missense variant +1 more)	Beaded hair	GPathogenic
Select item 7501	NM_002281.4(KRT81):c.1237G>A (p.Glu413Lys)	KRT86, KRT81 (E413K)	Single nucleotide variant (missense variant +1 more)	Beaded hair	GPathogenic
Select item 6837	NM_002282.3(KRT83):c.1219G>A (p.Glu407Lys)	KRT83 (E407K)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity

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Items: 95