ClinVar for Gene (Select 3889) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3063247	GRCh37/hg19 12q13.13(chr12:52654531-52846133)x1	KRT6B, KRT75 +6 more	Copy number loss	not specified	GUncertain significance
Select item 3063245	GRCh37/hg19 12q13.13(chr12:52654531-52847289)x1	KRT6B, KRT75 +6 more	Copy number loss	not specified	GUncertain significance
Select item 3057875	NM_002282.3(KRT83):c.1380C>T (p.Ala460=)	KRT83	Single nucleotide variant (synonymous variant)	KRT83-related condition	GLikely benign
Select item 3051512	NM_002282.3(KRT83):c.1060G>A (p.Ala354Thr)	KRT83 (A354T)	Single nucleotide variant (missense variant)	KRT83-related condition	GBenign
Select item 3047656	NM_002282.3(KRT83):c.1362G>A (p.Thr454=)	KRT83	Single nucleotide variant (synonymous variant)	KRT83-related condition	GLikely benign
Select item 3047354	NM_002282.3(KRT83):c.114C>T (p.Arg38=)	KRT83	Single nucleotide variant (synonymous variant)	KRT83-related condition	GLikely benign
Select item 3043349	NM_002282.3(KRT83):c.385-9G>C	KRT83	Single nucleotide variant (intron variant)	KRT83-related condition	GLikely benign
Select item 3018240	NM_002282.3(KRT83):c.812G>A (p.Ser271Asn)	KRT83 (S271N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2999279	NM_002282.3(KRT83):c.81_82delinsCG (p.Ser28Gly)	KRT83 (S28G)	Indel (missense variant)	not provided	GUncertain significance
Select item 2985103	NM_002282.3(KRT83):c.239C>G (p.Pro80Arg)	KRT83 (P80R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2974760	NM_002282.3(KRT83):c.385-20G>A	KRT83	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2972766	NM_002282.3(KRT83):c.86G>A (p.Arg29His)	KRT83 (R29H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2906747	NM_002282.3(KRT83):c.1041+5_1041+6inv	KRT83	Inversion (intron variant)	not provided	GUncertain significance
Select item 2902118	NM_002282.3(KRT83):c.173G>A (p.Gly58Asp)	KRT83 (G58D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2895417	NM_002282.3(KRT83):c.962G>A (p.Arg321His)	KRT83 (R321H)	Single nucleotide variant (missense variant)	not provided	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 2841612	NM_002282.3(KRT83):c.756C>A (p.Ile252=)	KRT83	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2742028	NM_002282.3(KRT83):c.119T>A (p.Ile40Asn)	KRT83 (I40N)	Single nucleotide variant (missense variant)	not provided	GBenign
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 2708087	NM_002282.3(KRT83):c.73C>T (p.Pro25Ser)	KRT83 (P25S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2643014	NM_002282.3(KRT83):c.300A>C (p.Ile100=)	KRT83	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2620783	NM_002282.3(KRT83):c.1163C>T (p.Ala388Val)	KRT83 (A388V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2611874	NM_002282.3(KRT83):c.493G>A (p.Glu165Lys)	KRT83 (E165K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2605093	NM_002282.3(KRT83):c.874A>G (p.Thr292Ala)	KRT83 (T292A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2604020	NM_002282.3(KRT83):c.118A>C (p.Ile40Leu)	KRT83 (I40L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2599471	NM_002282.3(KRT83):c.98C>T (p.Thr33Ile)	KRT83 (T33I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2598411	NM_002282.3(KRT83):c.161G>C (p.Ser54Thr)	KRT83 (S54T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2598011	NM_002282.3(KRT83):c.1378G>C (p.Ala460Pro)	KRT83 (A460P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2592409	NM_002282.3(KRT83):c.242C>A (p.Pro81Gln)	KRT83 (P81Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2533371	NM_002282.3(KRT83):c.1263G>T (p.Arg421Ser)	KRT83 (R421S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2523153	NM_002282.3(KRT83):c.737G>A (p.Arg246Gln)	KRT83 (R246Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2488706	NM_002282.3(KRT83):c.1465G>A (p.Gly489Ser)	KRT83 (G489S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2479251	NM_002282.3(KRT83):c.571G>T (p.Val191Leu)	KRT83 (V191L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2473591	NM_002282.3(KRT83):c.82A>G (p.Ser28Gly)	KRT83 (S28G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2465347	NM_002282.3(KRT83):c.319G>A (p.Val107Met)	KRT83 (V107M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2465063	NM_002282.3(KRT83):c.657T>G (p.Asp219Glu)	KRT83 (D219E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2459020	NM_002282.3(KRT83):c.38G>T (p.Arg13Leu)	KRT83 (R13L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2424383	NC_000012.11:g.(?_52708415)_(52761189_?)dup	KRT83, KRT85	Duplication	not provided	GUncertain significance
Select item 2407244	NM_002282.3(KRT83):c.268G>A (p.Glu90Lys)	KRT83 (E90K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2399488	NM_002282.3(KRT83):c.508G>A (p.Glu170Lys)	KRT83 (E170K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2398922	NM_002282.3(KRT83):c.1460C>T (p.Ser487Phe)	KRT83 (S487F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2388585	NM_002282.3(KRT83):c.1135G>C (p.Ala379Pro)	KRT83 (A379P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2379817	NM_002282.3(KRT83):c.999G>A (p.Met333Ile)	KRT83 (M333I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2373065	NM_002282.3(KRT83):c.239C>T (p.Pro80Leu)	KRT83 (P80L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2364645	NM_002282.3(KRT83):c.1339G>A (p.Val447Met)	KRT83 (V447M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2364488	NM_002282.3(KRT83):c.238C>G (p.Pro80Ala)	KRT83 (P80A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2360193	NM_002282.3(KRT83):c.925A>G (p.Met309Val)	KRT83 (M309V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2347998	NM_002282.3(KRT83):c.352C>T (p.Leu118Phe)	KRT83 (L118F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2344560	NM_002282.3(KRT83):c.505C>T (p.Arg169Trp)	KRT83 (R169W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2306336	NM_002282.3(KRT83):c.985G>A (p.Glu329Lys)	KRT83 (E329K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2283346	NM_002282.3(KRT83):c.1225G>A (p.Ala409Thr)	KRT83 (A409T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2271049	NM_002282.3(KRT83):c.1208G>T (p.Gly403Val)	KRT83 (G403V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2249008	NM_002282.3(KRT83):c.1237C>T (p.Arg413Cys)	KRT83 (R413C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2198246	NM_002282.3(KRT83):c.388C>T (p.Arg130Cys)	KRT83 (R130C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2190411	NM_002282.3(KRT83):c.915+7G>A	KRT83	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2187775	NM_002282.3(KRT83):c.118A>G (p.Ile40Val)	KRT83 (I40V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2182264	NM_002282.3(KRT83):c.1041+9G>T	KRT83	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2170529	NM_002282.3(KRT83):c.915+8G>T	KRT83	Single nucleotide variant (intron variant)	KRT83-related condition +1 more	GLikely benign
Select item 2130740	NM_002282.3(KRT83):c.751-4G>A	KRT83	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2082791	NM_002282.3(KRT83):c.716A>G (p.Gln239Arg)	KRT83 (Q239R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2063418	NM_002282.3(KRT83):c.1350C>T (p.Ser450=)	KRT83	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2062182	NM_002282.3(KRT83):c.894C>T (p.Ala298=)	KRT83	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2061954	NM_002282.3(KRT83):c.520G>A (p.Val174Met)	KRT83 (V174M)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2041908	NM_002282.3(KRT83):c.222C>T (p.Gly74=)	KRT83	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 2002336	NM_002282.3(KRT83):c.892G>A (p.Ala298Thr)	KRT83 (A298T)	Single nucleotide variant (missense variant)	not provided	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 1939459	NM_002282.3(KRT83):c.915+5G>A	KRT83	Single nucleotide variant (intron variant)	not provided	GUncertain significance
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 1911134	NM_002282.3(KRT83):c.1041+13G>A	KRT83	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1900614	NM_002282.3(KRT83):c.1294+10T>G	KRT83	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1616812	NM_002282.3(KRT83):c.1104T>C (p.Asp368=)	KRT83	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1466772	NM_002282.3(KRT83):c.26G>T (p.Gly9Val)	KRT83 (G9V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1290649	NM_002282.3(KRT83):c.750+49T>C	KRT83	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1285911	NM_002282.3(KRT83):c.385-70G>A	KRT83	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282229	NM_002282.3(KRT83):c.593+194G>A	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 1279017	NM_002282.3(KRT83):c.750+249A>G	KRT83	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278810	NM_002282.3(KRT83):c.384+314C>T	KRT83	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278794	NM_002282.3(KRT83):c.593+42T>C	KRT83	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277240	NM_002282.3(KRT83):c.750+90C>G	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 1266456	NM_002282.3(KRT83):c.593+123C>T	KRT83	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265485	NM_002282.3(KRT83):c.593+127T>C	KRT83	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257769	NM_002282.3(KRT83):c.385-52del	KRT83	Deletion (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 1250461	NM_002282.3(KRT83):c.385-269A>T	KRT83	Single nucleotide variant (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 1246337	NM_002282.3(KRT83):c.751-106T>C	KRT83	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244941	NM_002282.3(KRT83):c.1295-129_1295-128insCCACA	KRT83	Insertion (intron variant)	not provided	GBenign
Select item 1236400	NM_002282.3(KRT83):c.751-91C>T	KRT83	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236256	NM_002282.3(KRT83):c.594-22C>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 1233807	NM_002282.3(KRT83):c.1042-84G>T	KRT83	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232331	NC_000012.12:g.52321579C>T	KRT83	Single nucleotide variant	not provided	GBenign
Select item 1222015	NM_002282.3(KRT83):c.1263-95A>G	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 1178707	NM_002282.3(KRT83):c.751-90A>G	KRT83	Single nucleotide variant (intron variant)	not provided	GBenign

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