KRT83[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	LOC130008916, LOC130008917 +4836 more	Copy number gain	See cases	GPathogenic
Select item 153751	GRCh38/hg38 12q13.12-13.13(chr12:50122359-53248460)x1	ACVR1B, ACVRL1 +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 151290	GRCh38/hg38 12q13.13(chr12:52310983-52353613)x3	KRT83	Copy number gain	See cases	GBenign
Select item 145013	GRCh38/hg38 12q13.13(chr12:52310983-52385900)x3	LOC132090112, LOC132090113 +4 more	Copy number gain	See cases	GBenign
Select item 309486	NM_002282.3(KRT83):c.*324del	KRT83	Deletion (3 prime UTR variant)	Beaded hair	GBenign
Select item 883919	NM_002282.3(KRT83):c.*268A>C	KRT83	Single nucleotide variant (3 prime UTR variant)	Beaded hair	GUncertain significance
Select item 309487	NM_002282.3(KRT83):c.*225C>T	KRT83	Single nucleotide variant (3 prime UTR variant)	Beaded hair	GUncertain significance
Select item 309488	NM_002282.3(KRT83):c.206_207del	KRT83	Deletion (3 prime UTR variant)	Beaded hair	GLikely benign
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 309490	NM_002282.3(KRT83):c.*138C>T	KRT83	Single nucleotide variant (3 prime UTR variant)	Beaded hair +1 more	GBenign
Select item 883920	NM_002282.3(KRT83):c.*135C>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 880639	NM_002282.3(KRT83):c.*102T>G	KRT83	Single nucleotide variant (3 prime UTR 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 309492	NM_002282.3(KRT83):c.*44C>T	KRT83	Single nucleotide variant (3 prime UTR variant)	Beaded hair	GUncertain significance
Select item 309493	NM_002282.3(KRT83):c.*23G>T	KRT83	Single nucleotide variant (3 prime UTR variant)	Beaded hair	GBenign
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 2488706	NM_002282.3(KRT83):c.1465G>A (p.Gly489Ser)	KRT83 (G489S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2398922	NM_002282.3(KRT83):c.1460C>T (p.Ser487Phe)	KRT83 (S487F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2000441	NM_002282.3(KRT83):c.1442C>A (p.Thr481Asn)	KRT83 (T481N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 880641	NM_002282.3(KRT83):c.1425C>T (p.Pro475=)	KRT83	Single nucleotide variant (synonymous variant)	Beaded hair	GUncertain significance
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 3116743	NM_002282.3(KRT83):c.1418G>A (p.Cys473Tyr)	KRT83 (C473Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 309496	NM_002282.3(KRT83):c.1412G>A (p.Gly471Asp)	KRT83 (G471D)	Single nucleotide variant (missense variant)	KRT83-related disorder +2 more	GBenign
Select item 309497	NM_002282.3(KRT83):c.1398G>A (p.Leu466=)	KRT83	Single nucleotide variant (synonymous variant)	Beaded hair	GUncertain significance
Select item 3116742	NM_002282.3(KRT83):c.1390G>A (p.Gly464Arg)	KRT83 (G464R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3057875	NM_002282.3(KRT83):c.1380C>T (p.Ala460=)	KRT83	Single nucleotide variant (synonymous variant)	KRT83-related disorder	GLikely benign
Select item 2598011	NM_002282.3(KRT83):c.1378G>C (p.Ala460Pro)	KRT83 (A460P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2717285	NM_002282.3(KRT83):c.1369G>A (p.Val457Ile)	KRT83 (V457I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3047656	NM_002282.3(KRT83):c.1362G>A (p.Thr454=)	KRT83	Single nucleotide variant (synonymous variant)	KRT83-related disorder	GLikely benign
Select item 3116740	NM_002282.3(KRT83):c.1361C>T (p.Thr454Met)	KRT83 (T454M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 882052	NM_002282.3(KRT83):c.1356G>A (p.Pro452=)	KRT83	Single nucleotide variant (synonymous variant)	Beaded hair	GUncertain significance
Select item 2063418	NM_002282.3(KRT83):c.1350C>T (p.Ser450=)	KRT83	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2364645	NM_002282.3(KRT83):c.1339G>A (p.Val447Met)	KRT83 (V447M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 309498	NM_002282.3(KRT83):c.1338C>T (p.Cys446=)	KRT83	Single nucleotide variant (synonymous variant)	Beaded hair +1 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 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 882054	NM_002282.3(KRT83):c.1302C>A (p.Ser434Arg)	KRT83 (S434R)	Single nucleotide variant (missense variant)	Beaded hair	GLikely benign
Select item 1244941	NM_002282.3(KRT83):c.1295-129_1295-128insCCACA	KRT83	Insertion (intron variant)	not provided	GBenign
Select item 1248648	NM_002282.3(KRT83):c.1294+118A>G	KRT83	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281576	NM_002282.3(KRT83):c.1294+64A>G	KRT83	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1900614	NM_002282.3(KRT83):c.1294+10T>G	KRT83	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 309500	NM_002282.3(KRT83):c.1268G>C (p.Cys423Ser)	KRT83 (C423S)	Single nucleotide variant (missense variant)	KRT83-related disorder +2 more	GBenign/Likely benign
Select item 2533371	NM_002282.3(KRT83):c.1263G>T (p.Arg421Ser)	KRT83 (R421S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1222015	NM_002282.3(KRT83):c.1263-95A>G	KRT83	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1255061	NM_002282.3(KRT83):c.1262+248T>C	KRT83	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 446110	NM_002282.3(KRT83):c.1252G>A (p.Glu418Lys)	KRT83 (E418K)	Single nucleotide variant (missense variant)	Beaded hair	GPathogenic
Select item 191039	NM_002282.3(KRT83):c.1244T>G (p.Leu415Arg)	KRT83 (L415R)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2249008	NM_002282.3(KRT83):c.1237C>T (p.Arg413Cys)	KRT83 (R413C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2020143	NM_002282.3(KRT83):c.1228A>G (p.Thr410Ala)	KRT83 (T410A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2283346	NM_002282.3(KRT83):c.1225G>A (p.Ala409Thr)	KRT83 (A409T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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
Select item 2271049	NM_002282.3(KRT83):c.1208G>T (p.Gly403Val)	KRT83 (G403V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620783	NM_002282.3(KRT83):c.1163C>T (p.Ala388Val)	KRT83 (A388V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388585	NM_002282.3(KRT83):c.1135G>C (p.Ala379Pro)	KRT83 (A379P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116739	NM_002282.3(KRT83):c.1123G>A (p.Glu375Lys)	KRT83 (E375K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1616812	NM_002282.3(KRT83):c.1104T>C (p.Asp368=)	KRT83	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 309501	NM_002282.3(KRT83):c.1100G>A (p.Ser367Asn)	KRT83 (S367N)	Single nucleotide variant (missense variant)	Beaded hair	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 3051512	NM_002282.3(KRT83):c.1060G>A (p.Ala354Thr)	KRT83 (A354T)	Single nucleotide variant (missense variant)	KRT83-related disorder	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 309504	NM_002282.3(KRT83):c.1056A>G (p.Glu352=)	KRT83	Single nucleotide variant (synonymous 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 1233807	NM_002282.3(KRT83):c.1042-84G>T	KRT83	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233987	NM_002282.3(KRT83):c.1042-140T>C	KRT83	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275414	NM_002282.3(KRT83):c.1041+150G>A	KRT83	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1179244	NM_002282.3(KRT83):c.1041+54G>A	KRT83	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1911134	NM_002282.3(KRT83):c.1041+13G>A	KRT83	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2182264	NM_002282.3(KRT83):c.1041+9G>T	KRT83	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2906747	NM_002282.3(KRT83):c.1041+5_1041+6inv	KRT83	Inversion (intron variant)	not provided	GUncertain significance
Select item 309506	NM_002282.3(KRT83):c.1041+6A>G	KRT83	Single nucleotide variant (intron variant)	Beaded hair +1 more	GBenign
Select item 309507	NM_002282.3(KRT83):c.1041+5C>T	KRT83	Single nucleotide variant (intron variant)	Beaded hair	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 309509	NM_002282.3(KRT83):c.1017C>T (p.Ala339=)	KRT83	Single nucleotide variant (synonymous variant)	not provided +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 2379817	NM_002282.3(KRT83):c.999G>A (p.Met333Ile)	KRT83 (M333I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306336	NM_002282.3(KRT83):c.985G>A (p.Glu329Lys)	KRT83 (E329K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2895417	NM_002282.3(KRT83):c.962G>A (p.Arg321His)	KRT83 (R321H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 883999	NM_002282.3(KRT83):c.945G>A (p.Arg315=)	KRT83	Single nucleotide variant (synonymous variant)	Beaded hair +1 more	GBenign/Likely benign
Select item 2360193	NM_002282.3(KRT83):c.925A>G (p.Met309Val)	KRT83 (M309V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2170529	NM_002282.3(KRT83):c.915+8G>T	KRT83	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 2190411	NM_002282.3(KRT83):c.915+7G>A	KRT83	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1939459	NM_002282.3(KRT83):c.915+5G>A	KRT83	Single nucleotide variant (intron variant)	not provided	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 1913064	NM_002282.3(KRT83):c.908G>A (p.Arg303His)	KRT83 (R303H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2062182	NM_002282.3(KRT83):c.894C>T (p.Ala298=)	KRT83	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2002336	NM_002282.3(KRT83):c.892G>A (p.Ala298Thr)	KRT83 (A298T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2373590	NM_002282.3(KRT83):c.878G>A (p.Arg293His)	KRT83 (R293H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 309515	NM_002282.3(KRT83):c.877C>T (p.Arg293Cys)	KRT83 (R293C)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2605093	NM_002282.3(KRT83):c.874A>G (p.Thr292Ala)	KRT83 (T292A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2863326	NM_002282.3(KRT83):c.844G>A (p.Glu282Lys)	KRT83 (E282K)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2433273	NM_002282.3(KRT83):c.844G>C (p.Glu282Gln)	KRT83 (E282Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 309517	NM_002282.3(KRT83):c.837C>G (p.Ile279Met)	KRT83 (I279M)	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 309518	NM_002282.3(KRT83):c.815G>A (p.Arg272Gln)	KRT83 (R272Q)	Single nucleotide variant (missense variant)	Beaded hair	GUncertain significance

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