Krt10 Variant Search Result - Rat Genome Database

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Variants search result for Homo sapiens
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333 records found for search term Krt10

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
8564338	CV29607	single nucleotide variant	KRT10, ARG10HIS	Bullous ichthyosiform erythroderma [RCV000015669]	pathogenic				Human	1	name
8564340	CV29609	variation	KRT10, ARG10LEU	Bullous ichthyosiform erythroderma [RCV000015671]	pathogenic				Human		name
8564344	CV29613	variation	KRT10, ARG10CYS	Bullous ichthyosiform erythroderma [RCV000015675]	pathogenic				Human		name
8567908	CV38721	insertion	KRT10, 1-BP INS, 1325C	Bullous ichthyosiform erythroderma [RCV000022632]	pathogenic				Human	1	name
8567909	CV38722	single nucleotide variant	KRT10, IVS5DS, G-A, +5	Bullous ichthyosiform erythroderma [RCV000022633]	pathogenic				Human	1	name
150479104	CV1273410	single nucleotide variant	NM_000421.5(KRT10):c.*42C>T	not provided [RCV001696614]	benign	17	40818434	40818434	Human		name
150451450	CV1276597	single nucleotide variant	NM_000421.5(KRT10):c.*65A>G	not provided [RCV001708386]	benign	17	40818411	40818411	Human		name
150333557	CV1169718	single nucleotide variant	NM_000421.5(KRT10):c.*116A>G	not provided [RCV001537392]	benign	17	40818360	40818360	Human		name
150457277	CV1226179	single nucleotide variant	NM_000421.5(KRT10):c.1374-1G>C	Congenital reticular ichthyosiform erythroderma [RCV001619783]	pathogenic	17	40819162	40819162	Human	1	name
150457281	CV1226180	deletion	NM_000421.5(KRT10):c.1373+1del	Congenital reticular ichthyosiform erythroderma [RCV001619784]	pathogenic	17	40819516	40819516	Human	1	name
150511956	CV1228387	single nucleotide variant	NM_000421.5(KRT10):c.868-41G>A	not provided [RCV001637519]	benign	17	40820464	40820464	Human		name
150472224	CV1236304	single nucleotide variant	NM_000421.5(KRT10):c.868-31T>C	not provided [RCV001651389]	benign	17	40820454	40820454	Human		name
150506040	CV1254771	single nucleotide variant	NM_000421.5(KRT10):c.711-79C>T	not provided [RCV001678076]	benign	17	40820746	40820746	Human		name
150491074	CV1267717	single nucleotide variant	NM_000421.5(KRT10):c.711-59G>T	not provided [RCV001687741]	benign	17	40820726	40820726	Human		name
243062438	CV2404878	single nucleotide variant	NM_000421.5(KRT10):c.1374-1G>A	Congenital reticular ichthyosiform erythroderma [RCV003140427]\|Epidermolytic hyperkeratosis 2A, autosomal dominant [RCV003988887]	likely pathogenic	17	40819162	40819162	Human	2	name
8599861	CV29620	single nucleotide variant	NM_000421.5(KRT10):c.1374-2A>G	Congenital reticular ichthyosiform erythroderma [RCV000015682]	pathogenic	17	40819163	40819163	Human	1	name
8599862	CV29621	single nucleotide variant	NM_000421.5(KRT10):c.1373+1G>A	Congenital reticular ichthyosiform erythroderma [RCV000015683]	pathogenic	17	40819516	40819516	Human	1	name
404976904	CV3123727	single nucleotide variant	NM_000421.5(KRT10):c.867+16T>C	not provided [RCV003825153]	likely benign	17	40820495	40820495	Human		name
402524966	CV3175879	single nucleotide variant	NM_000421.5(KRT10):c.710+15C>T	not provided [RCV003879979]	likely benign	17	40821020	40821020	Human		name
405290070	CV3214050	single nucleotide variant	NM_000421.5(KRT10):c.1156-4T>G	KRT10-related disorder [RCV003926892]	likely benign	17	40819738	40819738	Human		name , trait , alternate_id
596942412	CV3542598	single nucleotide variant	NM_000421.5(KRT10):c.1030-2A>G	See cases [RCV004798182]	likely pathogenic	17	40820176	40820176	Human		name
597973055	CV3820069	single nucleotide variant	NM_000421.5(KRT10):c.1030-4C>T	not provided [RCV005167783]	likely benign	17	40820178	40820178	Human		name
13211895	CV426219	single nucleotide variant	NM_000421.5(KRT10):c.1373+2T>C	not provided [RCV000498057]	pathogenic	17	40819515	40819515	Human		name
13472863	CV445767	single nucleotide variant	NM_000421.5(KRT10):c.1374-2A>C	not provided [RCV000519237]	pathogenic	17	40819163	40819163	Human		name
8622040	CV77056	single nucleotide variant	NM_000421.5(KRT10):c.1155+5G>A	Epidermolytic hyperkeratosis 2B, autosomal recessive [RCV004593982]\|not provided [RCV000056473]	pathogenic\|not provided	17	40820044	40820044	Human	1	name
150476018	CV1216750	single nucleotide variant	NM_000421.5(KRT10):c.1029+14C>T	not provided [RCV001616043]	benign	17	40820248	40820248	Human		name
150480325	CV1239554	single nucleotide variant	NM_000421.5(KRT10):c.711-129A>G	not provided [RCV001652717]	benign	17	40820796	40820796	Human		name
329351386	CV2478033	single nucleotide variant	NM_000421.5(KRT10):c.1749-10A>G	Congenital reticular ichthyosiform erythroderma [RCV005406650]	likely benign	17	40818492	40818492	Human	2	name
401724468	CV2677887	single nucleotide variant	NR_160886.1(KRT10-AS1):n.644A>G	not specified [RCV004294379]	uncertain significance	17	40834845	40834845	Human		name
401776690	CV2703320	single nucleotide variant	NR_160886.1(KRT10-AS1):n.799G>A	not specified [RCV004315672]	uncertain significance	17	40835000	40835000	Human		name
401893381	CV2765279	single nucleotide variant	NR_160886.1(KRT10-AS1):n.760G>T	not specified [RCV004339800]	uncertain significance	17	40834961	40834961	Human		name
405123098	CV2942502	duplication	NM_000421.5(KRT10):c.1749-16dup	not provided [RCV003671686]	benign	17	40818497	40818498	Human		name
405082587	CV3137523	deletion	NM_000421.5(KRT10):c.1749-16del	not provided [RCV003834232]	benign	17	40818498	40818498	Human		name
405817185	CV3272925	single nucleotide variant	NR_160886.1(KRT10-AS1):n.460T>G	not specified [RCV004412170]	uncertain significance	17	40834661	40834661	Human		name
405817186	CV3272926	single nucleotide variant	NR_160886.1(KRT10-AS1):n.578G>A	not specified [RCV004412171]	uncertain significance	17	40834779	40834779	Human		name
405817187	CV3272927	single nucleotide variant	NR_160886.1(KRT10-AS1):n.629C>T	not specified [RCV004412172]	uncertain significance	17	40834830	40834830	Human		name
405817188	CV3272928	single nucleotide variant	NR_160886.1(KRT10-AS1):n.711C>A	not specified [RCV004412173]	uncertain significance	17	40834912	40834912	Human		name
405817189	CV3272929	single nucleotide variant	NR_160886.1(KRT10-AS1):n.711C>G	not specified [RCV004412174]	uncertain significance	17	40834912	40834912	Human		name
405817190	CV3272930	single nucleotide variant	NR_160886.1(KRT10-AS1):n.359C>T	not specified [RCV004412175]	uncertain significance	17	40834560	40834560	Human		name
405817191	CV3272931	single nucleotide variant	NR_160886.1(KRT10-AS1):n.826G>A	not specified [RCV004412176]	uncertain significance	17	40835027	40835027	Human		name
405817192	CV3272932	single nucleotide variant	NR_160886.1(KRT10-AS1):n.844T>C	not specified [RCV004412177]	uncertain significance	17	40835045	40835045	Human		name
405817193	CV3272933	single nucleotide variant	NR_160886.1(KRT10-AS1):n.878A>C	not specified [RCV004412178]	uncertain significance	17	40835079	40835079	Human		name
405817195	CV3272935	single nucleotide variant	NR_160886.1(KRT10-AS1):n.388G>C	not specified [RCV004412180]	uncertain significance	17	40834589	40834589	Human		name
407499769	CV3445434	single nucleotide variant	NR_160886.1(KRT10-AS1):n.712G>A	not specified [RCV004644420]	uncertain significance	17	40834913	40834913	Human		name
407499777	CV3445436	single nucleotide variant	NR_160886.1(KRT10-AS1):n.596G>T	not specified [RCV004644422]	uncertain significance	17	40834797	40834797	Human		name
407499781	CV3445437	single nucleotide variant	NR_160886.1(KRT10-AS1):n.584G>T	not specified [RCV004644423]	uncertain significance	17	40834785	40834785	Human		name
407499784	CV3445438	single nucleotide variant	NR_160886.1(KRT10-AS1):n.612T>G	not specified [RCV004644424]	uncertain significance	17	40834813	40834813	Human		name
407499788	CV3445439	single nucleotide variant	NR_160886.1(KRT10-AS1):n.320T>A	not specified [RCV004644425]	uncertain significance	17	40834521	40834521	Human		name
597797845	CV3698348	single nucleotide variant	NR_160886.1(KRT10-AS1):n.647A>G	not specified [RCV004935939]	uncertain significance	17	40834848	40834848	Human		name
597797848	CV3698349	single nucleotide variant	NR_160886.1(KRT10-AS1):n.841C>T	not specified [RCV004935940]	uncertain significance	17	40835042	40835042	Human		name
597797851	CV3698351	single nucleotide variant	NR_160886.1(KRT10-AS1):n.823G>A	not specified [RCV004935941]	likely benign	17	40835024	40835024	Human		name
597794849	CV3698352	single nucleotide variant	NR_160886.1(KRT10-AS1):n.613C>G	not specified [RCV004934647]	uncertain significance	17	40834814	40834814	Human		name
597797854	CV3698353	single nucleotide variant	NR_160886.1(KRT10-AS1):n.736A>G	not specified [RCV004935942]	likely benign	17	40834937	40834937	Human		name
597797857	CV3698354	single nucleotide variant	NR_160886.1(KRT10-AS1):n.959C>T	not specified [RCV004935943]	uncertain significance	17	40835160	40835160	Human		name
598162658	CV3984207	single nucleotide variant	NR_160886.1(KRT10-AS1):n.448A>G	not specified [RCV005368685]	uncertain significance	17	40834649	40834649	Human		name
598162664	CV3984208	single nucleotide variant	NR_160886.1(KRT10-AS1):n.569G>T	not specified [RCV005368686]	uncertain significance	17	40834770	40834770	Human		name
405817194	CV3272934	single nucleotide variant	NR_160886.1(KRT10-AS1):n.1048G>A	not specified [RCV004412179]	uncertain significance	17	40835249	40835249	Human		name
405817196	CV3272936	single nucleotide variant	NR_160886.1(KRT10-AS1):n.1057T>A	not specified [RCV004412181]	uncertain significance	17	40835258	40835258	Human		name
405817197	CV3272937	single nucleotide variant	NR_160886.1(KRT10-AS1):n.1075A>G	not specified [RCV004412182]	uncertain significance	17	40835276	40835276	Human		name
597794846	CV3698350	single nucleotide variant	NR_160886.1(KRT10-AS1):n.1037A>C	not specified [RCV004934646]	uncertain significance	17	40835238	40835238	Human		name
150455406	CV1259863	single nucleotide variant	NM_000421.5(KRT10):c.75T>C (p.Cys25=)	KRT10-related disorder [RCV003941071]\|not provided [RCV001681342]	benign\|likely benign	17	40822511	40822511	Human		name , trait , alternate_id
152025617	CV1527780	variation	NM_000421.5(KRT10):c.302= (p.Ile101=)	not provided [RCV002084523]	benign	17	40822284	40822284	Human		name
404979960	CV2850373	deletion	NM_000421.5(KRT10):c.1029+5_1029+9del	not provided [RCV003487981]	uncertain significance	17	40820253	40820257	Human		name
405268385	CV3198879	single nucleotide variant	NM_000421.5(KRT10):c.36T>C (p.Ser12=)	KRT10-related disorder [RCV003911997]	likely benign	17	40822550	40822550	Human		name , trait , alternate_id
150333131	CV1164504	single nucleotide variant	NM_000421.5(KRT10):c.135A>G (p.Gly45=)	KRT10-related disorder [RCV003948566]\|not provided [RCV001528700]	benign\|likely benign	17	40822451	40822451	Human		name , trait , alternate_id
151811319	CV1359432	single nucleotide variant	NM_000421.5(KRT10):c.11G>C (p.Arg4Pro)	not provided [RCV001991857]	likely benign	17	40822575	40822575	Human		name
152120889	CV1547476	single nucleotide variant	NM_000421.5(KRT10):c.129T>C (p.Leu43=)	KRT10-related disorder [RCV004756367]\|not provided [RCV002081536]	likely benign	17	40822457	40822457	Human		name , trait , alternate_id
152123612	CV1641151	single nucleotide variant	NM_000421.5(KRT10):c.153G>T (p.Gly51=)	not provided [RCV002098502]	benign	17	40822433	40822433	Human		name
408366403	CV3509906	single nucleotide variant	NM_000421.5(KRT10):c.264C>T (p.Ser88=)	KRT10-related disorder [RCV004756684]	likely benign	17	40822322	40822322	Human		name , trait , alternate_id
408366833	CV3516552	single nucleotide variant	NM_000421.5(KRT10):c.207C>A (p.Gly69=)	KRT10-related disorder [RCV004757023]	likely benign	17	40822379	40822379	Human		name , trait , alternate_id
126737275	CV1001008	single nucleotide variant	NM_000421.5(KRT10):c.759C>T (p.Asn253=)	not provided [RCV001311881]	likely benign	17	40820619	40820619	Human		name
126727432	CV1018282	single nucleotide variant	NM_000421.5(KRT10):c.98C>T (p.Ser33Phe)	Epidermolytic ichthyosis [RCV001332428]\|not provided [RCV004692557]	uncertain significance	17	40822488	40822488	Human	2	name , alternate_id
126914580	CV1038526	single nucleotide variant	NM_000421.5(KRT10):c.71G>A (p.Gly24Glu)	not provided [RCV001358374]	uncertain significance	17	40822515	40822515	Human		name
150444799	CV1278045	single nucleotide variant	NM_000421.5(KRT10):c.375C>T (p.Gly125=)	not provided [RCV001707188]	benign	17	40822211	40822211	Human		name
152124344	CV1553855	single nucleotide variant	NM_000421.5(KRT10):c.756C>T (p.Ile252=)	not provided [RCV002098598]	benign	17	40820622	40820622	Human		name
152174918	CV1572784	single nucleotide variant	NM_000421.5(KRT10):c.44G>A (p.Arg15His)	not provided [RCV002144601]	benign	17	40822542	40822542	Human		name
152112473	CV1640601	single nucleotide variant	NM_000421.5(KRT10):c.312G>A (p.Gly104=)	not provided [RCV002174507]	benign	17	40822274	40822274	Human		name
156322344	CV1885821	single nucleotide variant	NM_000421.5(KRT10):c.97T>A (p.Ser33Thr)	not provided [RCV003089251]	uncertain significance	17	40822489	40822489	Human		name
155951546	CV2133240	single nucleotide variant	NM_000421.5(KRT10):c.321C>T (p.Phe107=)	not provided [RCV002994658]	benign\|likely benign	17	40822265	40822265	Human		name
155952389	CV2133321	single nucleotide variant	NM_000421.5(KRT10):c.789C>T (p.Thr263=)	not provided [RCV002994706]	benign\|likely benign	17	40820589	40820589	Human		name
401770761	CV2726252	single nucleotide variant	NM_000421.5(KRT10):c.38C>T (p.Ser13Phe)	Inborn genetic diseases [RCV003304137]	uncertain significance	17	40822548	40822548	Human	1	name
597868681	CV3749695	single nucleotide variant	NM_000421.5(KRT10):c.49G>A (p.Gly17Arg)	not provided [RCV005068376]	uncertain significance	17	40822537	40822537	Human		name
597840756	CV3756137	single nucleotide variant	NM_000421.5(KRT10):c.741C>T (p.Ser247=)	not provided [RCV005086409]	likely benign	17	40820637	40820637	Human		name
126737285	CV1001009	single nucleotide variant	NM_000421.5(KRT10):c.257G>A (p.Arg86His)	KRT10-related disorder [RCV003928836]\|not provided [RCV001311882]	benign\|likely benign	17	40822329	40822329	Human		name , trait , alternate_id
150508998	CV1244969	single nucleotide variant	NM_000421.5(KRT10):c.1413C>A (p.Gly471=)	not provided [RCV001659220]	benign	17	40819122	40819122	Human		name
150542683	CV1314903	deletion	NM_000421.5(KRT10):c.363del (p.Phe122fs)	not provided [RCV001782355]	likely pathogenic	17	40822223	40822223	Human		name
151352888	CV1326243	single nucleotide variant	NM_000421.5(KRT10):c.1632C>A (p.Gly544=)	not provided [RCV001815822]	benign\|likely benign	17	40818903	40818903	Human		name
152151447	CV1559668	single nucleotide variant	NM_000421.5(KRT10):c.1629G>C (p.Gly543=)	not provided [RCV002220875]	likely benign	17	40818906	40818906	Human		name
152136958	CV1563315	single nucleotide variant	NM_000421.5(KRT10):c.1593T>G (p.Gly531=)	not provided [RCV002200075]	benign	17	40818942	40818942	Human		name
152056951	CV1567205	single nucleotide variant	NM_000421.5(KRT10):c.1617C>T (p.Gly539=)	not provided [RCV002146347]	likely benign	17	40818918	40818918	Human		name
152079017	CV1632321	single nucleotide variant	NM_000421.5(KRT10):c.125C>T (p.Ser42Phe)	not provided [RCV002130600]	likely benign	17	40822461	40822461	Human		name
156215281	CV1910552	single nucleotide variant	NM_000421.5(KRT10):c.1536C>T (p.Gly512=)	not provided [RCV002596237]	likely benign	17	40818999	40818999	Human		name
155907885	CV2027740	single nucleotide variant	NM_000421.5(KRT10):c.201T>A (p.Phe67Leu)	not provided [RCV002726586]	uncertain significance	17	40822385	40822385	Human		name
401935764	CV2811324	single nucleotide variant	NM_000421.5(KRT10):c.1560C>T (p.Gly520=)	not provided [RCV003413225]	likely benign	17	40818975	40818975	Human		name
405019089	CV2866151	single nucleotide variant	NM_000421.5(KRT10):c.1482T>C (p.Ser494=)	KRT10-related disorder [RCV004756518]\|not provided [RCV003577431]	likely benign	17	40819053	40819053	Human		name , trait , alternate_id
405238486	CV2986840	single nucleotide variant	NM_000421.5(KRT10):c.107T>C (p.Ile36Thr)	not provided [RCV003683524]	uncertain significance	17	40822479	40822479	Human		name
405252377	CV3047194	single nucleotide variant	NM_000421.5(KRT10):c.1488C>A (p.Gly496=)	KRT10-related disorder [RCV004756532]\|not provided [RCV003722191]	likely benign	17	40819047	40819047	Human		name , trait , alternate_id
405252379	CV3047195	single nucleotide variant	NM_000421.5(KRT10):c.1470C>T (p.Gly490=)	not provided [RCV003722192]	likely benign	17	40819065	40819065	Human		name
405230613	CV3073309	single nucleotide variant	NM_000421.5(KRT10):c.1500A>C (p.Gly500=)	not provided [RCV003734831]	likely benign	17	40819035	40819035	Human		name
405102871	CV3119445	single nucleotide variant	NM_000421.5(KRT10):c.1422C>A (p.Gly474=)	not provided [RCV003811706]	likely benign	17	40819113	40819113	Human		name
405102496	CV3119447	single nucleotide variant	NM_000421.5(KRT10):c.1389A>C (p.Gly463=)	not provided [RCV003811708]	likely benign	17	40819146	40819146	Human		name
405213426	CV3127566	single nucleotide variant	NM_000421.5(KRT10):c.1476C>A (p.Gly492=)	not provided [RCV003823614]	likely benign	17	40819059	40819059	Human		name
405149994	CV3152169	single nucleotide variant	NM_000421.5(KRT10):c.1407C>T (p.Phe469=)	not provided [RCV003856140]	likely benign	17	40819128	40819128	Human		name
405283546	CV3217203	single nucleotide variant	NM_000421.5(KRT10):c.1623C>A (p.Gly541=)	KRT10-related disorder [RCV003979294]	likely benign	17	40818912	40818912	Human		name , trait , alternate_id
407499760	CV3445431	single nucleotide variant	NM_000421.5(KRT10):c.175C>T (p.Arg59Cys)	Inborn genetic diseases [RCV004644417]	uncertain significance	17	40822411	40822411	Human	1	name
408366602	CV3511972	single nucleotide variant	NM_000421.5(KRT10):c.1542G>C (p.Gly514=)	KRT10-related disorder [RCV004756815]	likely benign	17	40818993	40818993	Human		name , trait , alternate_id
597687458	CV3698338	single nucleotide variant	NM_000421.5(KRT10):c.155T>A (p.Phe52Tyr)	Inborn genetic diseases [RCV004984270]	uncertain significance	17	40822431	40822431	Human	1	name
597840571	CV3737220	single nucleotide variant	NM_000421.5(KRT10):c.1605C>T (p.Ser535=)	not provided [RCV005064700]	likely benign	17	40818930	40818930	Human		name
597889142	CV3766351	single nucleotide variant	NM_000421.5(KRT10):c.1512C>T (p.Ser504=)	not provided [RCV005110468]	likely benign	17	40819023	40819023	Human		name
597927508	CV3819861	single nucleotide variant	NM_000421.5(KRT10):c.273T>A (p.Ser91Arg)	not provided [RCV005156561]	uncertain significance	17	40822313	40822313	Human		name
597885871	CV3842239	single nucleotide variant	NM_000421.5(KRT10):c.1356G>A (p.Leu452=)	not provided [RCV005178874]	likely benign	17	40819534	40819534	Human		name
597964403	CV3848046	single nucleotide variant	NM_000421.5(KRT10):c.1443A>C (p.Gly481=)	not provided [RCV005193925]	likely benign	17	40819092	40819092	Human		name
598128432	CV3887637	single nucleotide variant	NM_000421.5(KRT10):c.1545C>T (p.Gly515=)	not provided [RCV005243810]	likely benign	17	40818990	40818990	Human		name
617149766	CV4021264	single nucleotide variant	NM_000421.5(KRT10):c.1464C>G (p.Gly488=)	not provided [RCV005425233]	likely benign	17	40819071	40819071	Human		name
13446134	CV438043	single nucleotide variant	NM_000421.5(KRT10):c.158G>A (p.Ser53Asn)	not provided [RCV000513318]	uncertain significance	17	40822428	40822428	Human		name
150520462	CV1289674	single nucleotide variant	NM_000421.5(KRT10):c.470T>C (p.Leu157Pro)	Congenital reticular ichthyosiform erythroderma [RCV001730093]	pathogenic	17	40822116	40822116	Human	1	name
151709323	CV1514912	single nucleotide variant	NM_000421.5(KRT10):c.461A>G (p.Asn154Ser)	not provided [RCV002001626]	likely pathogenic	17	40822125	40822125	Human		name
152121279	CV1662190	single nucleotide variant	NM_000421.5(KRT10):c.302T>G (p.Ile101Ser)	not provided [RCV002117882]	benign	17	40822284	40822284	Human		name
155268214	CV1701658	single nucleotide variant	NM_000421.5(KRT10):c.470T>G (p.Leu157Arg)	Annular epidermolytic ichthyosis [RCV002283888]	likely pathogenic	17	40822116	40822116	Human	1	name
156015099	CV2061563	single nucleotide variant	NM_000421.5(KRT10):c.657C>A (p.Asn219Lys)	not provided [RCV002820334]	uncertain significance	17	40821088	40821088	Human		name
156194329	CV2113566	single nucleotide variant	NM_000421.5(KRT10):c.305T>C (p.Phe102Ser)	not provided [RCV002957158]	benign	17	40822281	40822281	Human		name
156318210	CV2260655	single nucleotide variant	NM_000421.5(KRT10):c.322G>A (p.Gly108Arg)	Inborn genetic diseases [RCV002809760]\|not provided [RCV005059292]	uncertain significance	17	40822264	40822264	Human	1	name
329846334	CV2524645	single nucleotide variant	NM_000421.5(KRT10):c.546T>A (p.Tyr182Ter)	Epidermolytic ichthyosis [RCV003227577]	likely pathogenic	17	40822040	40822040	Human	2	name , alternate_id
401747139	CV2692077	single nucleotide variant	NM_000421.5(KRT10):c.997C>T (p.Arg333Cys)	Inborn genetic diseases [RCV003275871]	uncertain significance	17	40820294	40820294	Human	1	name
401931923	CV2801795	single nucleotide variant	NM_000421.5(KRT10):c.458T>C (p.Leu153Pro)	KRT10-related disorder [RCV003408554]	uncertain significance	17	40822128	40822128	Human		name , trait , alternate_id
405068100	CV2875599	single nucleotide variant	NM_000421.5(KRT10):c.371G>T (p.Gly124Val)	not provided [RCV003548364]	uncertain significance	17	40822215	40822215	Human		name
405236162	CV2887865	single nucleotide variant	NM_000421.5(KRT10):c.742G>A (p.Val248Met)	not provided [RCV003556428]	uncertain significance	17	40820636	40820636	Human		name
405205720	CV2913293	single nucleotide variant	NM_000421.5(KRT10):c.462T>G (p.Asn154Lys)	not provided [RCV003566475]	uncertain significance	17	40822124	40822124	Human		name
402478267	CV2914357	single nucleotide variant	NM_000421.5(KRT10):c.465C>A (p.Asp155Glu)	not provided [RCV003571669]	uncertain significance	17	40822121	40822121	Human		name
8564339	CV29608	single nucleotide variant	NM_000421.5(KRT10):c.482T>C (p.Leu161Ser)	Epidermolytic hyperkeratosis 2A, autosomal dominant [RCV004593963]\|not provided [RCV000056504]	pathogenic\|not provided	17	40822104	40822104	Human	1	name
8564341	CV29610	single nucleotide variant	NM_000421.5(KRT10):c.460A>C (p.Asn154His)	Epidermolytic hyperkeratosis 2A, autosomal dominant [RCV004593964]\|not provided [RCV000056493]	pathogenic\|not provided	17	40822126	40822126	Human	1	name
8564342	CV29611	single nucleotide variant	NM_000421.5(KRT10):c.478T>G (p.Tyr160Asp)	Epidermolytic hyperkeratosis 2A, autosomal dominant [RCV004593965]\|not provided [RCV000056501]	pathogenic\|not provided	17	40822108	40822108	Human	1	name
8564343	CV29612	single nucleotide variant	NM_000421.5(KRT10):c.467G>A (p.Arg156His)	Epidermolytic hyperkeratosis 1 [RCV004786265]\|Epidermolytic hyperkeratosis 2A, autosomal dominant [RCV004562211]\|Epidermolytic ichthyosis [RCV000015674]\|KRT10-related disorder [RCV004755736]\|not provided [RCV000056497]	pathogenic\|not provided	17	40822119	40822119	Human	5	name , trait , alternate_id
8564346	CV29615	single nucleotide variant	NM_000421.5(KRT10):c.466C>T (p.Arg156Cys)	Autosomal dominant epidermolytic ichthyosis [RCV004797762]\|Epidermolytic acanthoma [RCV001849267]\|Epidermolytic hyperkeratosis 2A, autosomal dominant [RCV004593967]\|Epidermolytic ichthyosis [RCV000763396]\|Epidermolytic nevus [RCV003458335]\|KRT10-related disorder ... (more) [RCV003398521]\|not provided [RCV000056496]	pathogenic\|likely pathogenic\|not provided	17	40822120	40822120	Human	7	name , trait , alternate_id
8564347	CV29616	single nucleotide variant	NM_000421.5(KRT10):c.449T>G (p.Met150Arg)	Epidermolytic hyperkeratosis 2A, autosomal dominant [RCV004593968]\|not provided [RCV000056491]	pathogenic\|not provided	17	40822137	40822137	Human	1	name
8564349	CV29618	single nucleotide variant	NM_000421.5(KRT10):c.449T>C (p.Met150Thr)	Epidermolytic hyperkeratosis 2A, autosomal dominant [RCV004593970]\|not provided [RCV000056490]	pathogenic\|not provided	17	40822137	40822137	Human	1	name
8599863	CV29622	duplication	NM_000421.5(KRT10):c.1449dup (p.Gly484fs)	Congenital reticular ichthyosiform erythroderma [RCV000015684]	pathogenic	17	40819085	40819086	Human	1	name
405182094	CV3057421	single nucleotide variant	NM_000421.5(KRT10):c.734G>A (p.Arg245His)	not provided [RCV003728884]	uncertain significance	17	40820644	40820644	Human		name
405213897	CV3078346	single nucleotide variant	NM_000421.5(KRT10):c.935T>C (p.Val312Ala)	not provided [RCV003732381]	uncertain significance	17	40820356	40820356	Human		name
405114166	CV3133776	single nucleotide variant	NM_000421.5(KRT10):c.514T>C (p.Tyr172His)	not provided [RCV003836570]	uncertain significance	17	40822072	40822072	Human		name
597693583	CV3698342	single nucleotide variant	NM_000421.5(KRT10):c.422T>C (p.Leu141Pro)	Inborn genetic diseases [RCV004986106]	uncertain significance	17	40822164	40822164	Human	1	name
597939046	CV3788411	single nucleotide variant	NM_000421.5(KRT10):c.953T>C (p.Leu318Pro)	not provided [RCV005133086]	uncertain significance	17	40820338	40820338	Human		name
597970054	CV3791812	single nucleotide variant	NM_000421.5(KRT10):c.469C>G (p.Leu157Val)	not provided [RCV005141629]	uncertain significance	17	40822117	40822117	Human		name
597973476	CV3801163	single nucleotide variant	NM_000421.5(KRT10):c.458T>G (p.Leu153Arg)	not provided [RCV005143358]	pathogenic	17	40822128	40822128	Human		name
598221845	CV3984201	single nucleotide variant	NM_000421.5(KRT10):c.698A>C (p.Asp233Ala)	Inborn genetic diseases [RCV005360877]	uncertain significance	17	40821047	40821047	Human	1	name
598162655	CV3984206	single nucleotide variant	NM_000421.5(KRT10):c.715G>A (p.Glu239Lys)	Inborn genetic diseases [RCV005368684]	uncertain significance	17	40820663	40820663	Human	1	name
13211549	CV426220	single nucleotide variant	NM_000421.5(KRT10):c.494G>C (p.Arg165Pro)	not provided [RCV000497598]	likely pathogenic	17	40822092	40822092	Human		name
14742390	CV656434	single nucleotide variant	NM_000421.5(KRT10):c.338G>A (p.Gly113Asp)	not provided [RCV000841356]	likely benign	17	40822248	40822248	Human		name
8622051	CV77068	single nucleotide variant	NM_000421.5(KRT10):c.376G>A (p.Gly126Ser)	Epidermolytic ichthyosis [RCV002496745]\|not provided [RCV000056489]	benign\|likely benign\|not provided	17	40822210	40822210	Human	2	name , alternate_id
8622052	CV77069	single nucleotide variant	NM_000421.5(KRT10):c.457C>G (p.Leu153Val)	not provided [RCV000056492]	pathogenic\|not provided	17	40822129	40822129	Human		name
8622054	CV77071	single nucleotide variant	NM_000421.5(KRT10):c.466C>A (p.Arg156Ser)	not provided [RCV000056495]	pathogenic\|not provided	17	40822120	40822120	Human		name
8622055	CV77072	single nucleotide variant	NM_000421.5(KRT10):c.467G>C (p.Arg156Pro)	not provided [RCV000056498]	not provided	17	40822119	40822119	Human		name
8622056	CV77073	single nucleotide variant	NM_000421.5(KRT10):c.467G>T (p.Arg156Leu)	Epidermolytic hyperkeratosis 2A, autosomal dominant [RCV004593984]\|not provided [RCV000056499]	pathogenic\|uncertain significance\|not provided	17	40822119	40822119	Human	1	name
8622057	CV77074	single nucleotide variant	NM_000421.5(KRT10):c.472G>C (p.Ala158Pro)	not provided [RCV000056500]	pathogenic\|not provided	17	40822114	40822114	Human		name
8622058	CV77075	single nucleotide variant	NM_000421.5(KRT10):c.479A>C (p.Tyr160Ser)	not provided [RCV000056502]	not provided	17	40822107	40822107	Human		name
8622842	CV77866	single nucleotide variant	NM_000421.5(KRT10):c.466C>G (p.Arg156Gly)	not provided [RCV000057504]	not provided	17	40822120	40822120	Human		name
8636140	CV91364	single nucleotide variant	NM_000421.3(KRT10):c.373G>A (p.Gly125Ser)	Malignant melanoma [RCV000071462]	not provided	17	40822213	40822213	Human		name
126729684	CV986089	deletion	NM_000421.5(KRT10):c.1635del (p.Ser546fs)	Bullous ichthyosiform erythroderma [RCV001293884]	pathogenic	17	40818900	40818900	Human	1	name
150408880	CV1178156	microsatellite	NM_000421.5(KRT10):c.49GGA[9] (p.Gly24dup)	Epidermolytic ichthyosis [RCV002495870]\|KRT10-related disorder [RCV003908892]\|not provided [RCV001546059]	likely benign	17	40822513	40822514	Human		name , trait , alternate_id
150422706	CV1181514	single nucleotide variant	NM_000421.5(KRT10):c.1638C>A (p.Ser546Arg)	not provided [RCV001553003]	benign\|likely benign	17	40818897	40818897	Human		name
150513671	CV1211359	single nucleotide variant	NM_000421.5(KRT10):c.1636A>G (p.Ser546Gly)	not provided [RCV001598547]	benign\|likely benign	17	40818899	40818899	Human		name
151748578	CV1353239	single nucleotide variant	NM_000421.5(KRT10):c.1345T>C (p.Tyr449His)	not provided [RCV001912733]	pathogenic\|likely pathogenic	17	40819545	40819545	Human		name
8691801	CV141768	single nucleotide variant	NM_000421.5(KRT10):c.1459C>T (p.His487Tyr)	Annular epidermolytic ichthyosis [RCV001731062]\|Congenital reticular ichthyosiform erythroderma [RCV001731063]\|Epidermolytic ichthyosis [RCV001731061]\|not provided [RCV002073958]	benign	17	40819076	40819076	Human	4	name , alternate_id
152053518	CV1523738	single nucleotide variant	NM_000421.5(KRT10):c.1640C>A (p.Ser547Tyr)	not provided [RCV002127511]	benign	17	40818895	40818895	Human		name
152072227	CV1609345	single nucleotide variant	NM_000421.5(KRT10):c.1468G>A (p.Gly490Ser)	Inborn genetic diseases [RCV003007143]\|not provided [RCV002129758]	benign\|uncertain significance	17	40819067	40819067	Human	1	name
152085005	CV1622987	single nucleotide variant	NM_000421.5(KRT10):c.1597G>A (p.Gly533Ser)	not provided [RCV002113262]	benign	17	40818938	40818938	Human		name
152070836	CV1630574	single nucleotide variant	NM_000421.5(KRT10):c.1724G>T (p.Gly575Val)	KRT10-related disorder [RCV004756361]\|not provided [RCV002129600]	benign\|likely benign	17	40818811	40818811	Human		name , trait , alternate_id
152094308	CV1632086	single nucleotide variant	NM_000421.5(KRT10):c.1524C>G (p.Ser508Arg)	KRT10-related disorder [RCV003958750]\|not provided [RCV002132424]	benign	17	40819011	40819011	Human		name , trait , alternate_id
153301801	CV1687936	single nucleotide variant	NM_000421.5(KRT10):c.1588T>C (p.Tyr530His)	not provided [RCV002265162]	uncertain significance	17	40818947	40818947	Human		name
155971405	CV1889515	single nucleotide variant	NM_000421.5(KRT10):c.1460A>G (p.His487Arg)	not provided [RCV003075196]	uncertain significance	17	40819075	40819075	Human		name
156405275	CV1913023	single nucleotide variant	NM_000421.5(KRT10):c.1209G>C (p.Gln403His)	not provided [RCV002606292]	uncertain significance	17	40819681	40819681	Human		name
156405941	CV2004531	single nucleotide variant	NM_000421.5(KRT10):c.1634G>A (p.Gly545Asp)	not provided [RCV002658435]	uncertain significance	17	40818901	40818901	Human		name
156224907	CV2103672	single nucleotide variant	NM_000421.5(KRT10):c.1418A>C (p.Tyr473Ser)	not provided [RCV002918715]	likely benign	17	40819117	40819117	Human		name
156232452	CV2112550	single nucleotide variant	NM_000421.5(KRT10):c.1495T>C (p.Tyr499His)	KRT10-related disorder [RCV004756437]\|not provided [RCV002932885]	likely benign	17	40819040	40819040	Human		name , trait , alternate_id
155985491	CV2247871	single nucleotide variant	NM_000421.5(KRT10):c.1622G>T (p.Gly541Val)	Inborn genetic diseases [RCV002778095]	uncertain significance	17	40818913	40818913	Human	1	name
156192111	CV2255333	single nucleotide variant	NM_000421.5(KRT10):c.1469G>C (p.Gly490Ala)	Inborn genetic diseases [RCV002802911]	uncertain significance	17	40819066	40819066	Human	1	name
156016375	CV2266340	single nucleotide variant	NM_000421.5(KRT10):c.1225G>A (p.Ala409Thr)	Inborn genetic diseases [RCV002844218]	uncertain significance	17	40819665	40819665	Human	1	name
156221469	CV2343843	single nucleotide variant	NM_000421.5(KRT10):c.1537T>C (p.Tyr513His)	Inborn genetic diseases [RCV002986167]\|KRT10-related disorder [RCV003928920]	likely benign\|uncertain significance	17	40818998	40818998	Human	1	name , trait , alternate_id
155985298	CV2345074	single nucleotide variant	NM_000421.5(KRT10):c.1703C>T (p.Ser568Phe)	Inborn genetic diseases [RCV002947035]	uncertain significance	17	40818832	40818832	Human	1	name
156389046	CV2376321	single nucleotide variant	NM_000421.5(KRT10):c.1468G>C (p.Gly490Arg)	Inborn genetic diseases [RCV002680457]	uncertain significance	17	40819067	40819067	Human	1	name
401733931	CV2697906	single nucleotide variant	NM_000421.5(KRT10):c.1547G>A (p.Gly516Glu)	Inborn genetic diseases [RCV003249337]	uncertain significance	17	40818988	40818988	Human	1	name
401750956	CV2700130	single nucleotide variant	NM_000421.5(KRT10):c.1288A>G (p.Thr430Ala)	Inborn genetic diseases [RCV003253832]	likely benign	17	40819602	40819602	Human	1	name
401721843	CV2710191	single nucleotide variant	NM_000421.5(KRT10):c.1285A>G (p.Asn429Asp)	Inborn genetic diseases [RCV003267774]	uncertain significance	17	40819605	40819605	Human	1	name
401935765	CV2811325	single nucleotide variant	NM_000421.5(KRT10):c.1559G>T (p.Gly520Val)	not provided [RCV003413226]	uncertain significance	17	40818976	40818976	Human		name
405075979	CV2873182	single nucleotide variant	NM_000421.5(KRT10):c.1448C>A (p.Ser483Tyr)	Inborn genetic diseases [RCV004985394]\|not provided [RCV003548748]	uncertain significance	17	40819087	40819087	Human	1	name
8564345	CV29614	single nucleotide variant	NM_000421.5(KRT10):c.1325T>A (p.Leu442Gln)	Epidermolytic hyperkeratosis 2A, autosomal dominant [RCV004593966]\|not provided [RCV000056479]	pathogenic\|not provided	17	40819565	40819565	Human	1	name
8564348	CV29617	single nucleotide variant	NM_000421.5(KRT10):c.1315A>G (p.Lys439Glu)	Epidermolytic hyperkeratosis 1 [RCV004593969]\|not provided [RCV000056478]	pathogenic\|not provided	17	40819575	40819575	Human	2	name
405194822	CV3066390	single nucleotide variant	NM_000421.5(KRT10):c.1379G>A (p.Gly460Glu)	not provided [RCV003730000]	uncertain significance	17	40819156	40819156	Human		name
405102493	CV3119446	single nucleotide variant	NM_000421.5(KRT10):c.1391G>A (p.Arg464His)	not provided [RCV003811707]	uncertain significance	17	40819144	40819144	Human		name
405295138	CV3211081	single nucleotide variant	NM_000421.5(KRT10):c.1625A>C (p.Tyr542Ser)	KRT10-related disorder [RCV003937078]	benign	17	40818910	40818910	Human		name , trait , alternate_id
405277072	CV3214607	single nucleotide variant	NM_000421.5(KRT10):c.1528G>A (p.Gly510Ser)	KRT10-related disorder [RCV003917373]	likely benign	17	40819007	40819007	Human		name , trait , alternate_id
405817183	CV3272923	single nucleotide variant	NM_000421.5(KRT10):c.1541G>A (p.Gly514Glu)	Inborn genetic diseases [RCV004412168]	uncertain significance	17	40818994	40818994	Human	1	name
405817184	CV3272924	single nucleotide variant	NM_000421.5(KRT10):c.1541G>C (p.Gly514Ala)	Inborn genetic diseases [RCV004412169]	uncertain significance	17	40818994	40818994	Human	1	name
407428922	CV3414085	single nucleotide variant	NM_000421.5(KRT10):c.1304T>C (p.Leu435Pro)	Ichthyosis hystrix gravior [RCV004594023]	pathogenic	17	40819586	40819586	Human	1	name
407499763	CV3445432	single nucleotide variant	NM_000421.5(KRT10):c.1477G>A (p.Gly493Ser)	Inborn genetic diseases [RCV004644418]	uncertain significance	17	40819058	40819058	Human	1	name
407499766	CV3445433	single nucleotide variant	NM_000421.5(KRT10):c.1471C>T (p.His491Tyr)	Inborn genetic diseases [RCV004644419]	likely benign	17	40819064	40819064	Human	1	name
596923536	CV3536040	single nucleotide variant	NM_000421.5(KRT10):c.1304T>G (p.Leu435Arg)	Epidermolytic hyperkeratosis 1 [RCV004788470]	likely pathogenic	17	40819586	40819586	Human	2	name
596927053	CV3536451	single nucleotide variant	NM_000421.5(KRT10):c.1307T>C (p.Leu436Pro)	Epidermolytic hyperkeratosis 2A, autosomal dominant [RCV004789859]\|not provided [RCV005105064]	pathogenic\|likely pathogenic	17	40819583	40819583	Human	1	name
597687443	CV3698335	single nucleotide variant	NM_000421.5(KRT10):c.1579A>G (p.Ser527Gly)	Inborn genetic diseases [RCV004984268]	likely benign	17	40818956	40818956	Human	1	name
597687450	CV3698337	single nucleotide variant	NM_000421.5(KRT10):c.1546G>A (p.Gly516Arg)	Inborn genetic diseases [RCV004984269]	uncertain significance	17	40818989	40818989	Human	1	name
597687464	CV3698339	single nucleotide variant	NM_000421.5(KRT10):c.1442G>A (p.Gly481Glu)	Inborn genetic diseases [RCV004984271]	uncertain significance	17	40819093	40819093	Human	1	name
597693571	CV3698340	single nucleotide variant	NM_000421.5(KRT10):c.1473C>G (p.His491Gln)	Inborn genetic diseases [RCV004986104]	uncertain significance	17	40819062	40819062	Human	1	name
597693577	CV3698341	single nucleotide variant	NM_000421.5(KRT10):c.1195C>T (p.Arg399Cys)	Inborn genetic diseases [RCV004986105]	uncertain significance	17	40819695	40819695	Human	1	name
597693589	CV3698343	single nucleotide variant	NM_000421.5(KRT10):c.1381G>A (p.Gly461Ser)	Inborn genetic diseases [RCV004986107]	uncertain significance	17	40819154	40819154	Human	1	name
597693595	CV3698344	single nucleotide variant	NM_000421.5(KRT10):c.1384G>C (p.Gly462Arg)	Inborn genetic diseases [RCV004986108]	uncertain significance	17	40819151	40819151	Human	1	name
597693604	CV3698345	single nucleotide variant	NM_000421.5(KRT10):c.1309G>C (p.Asp437His)	Inborn genetic diseases [RCV004986109]	uncertain significance	17	40819581	40819581	Human	1	name
597693610	CV3698347	single nucleotide variant	NM_000421.5(KRT10):c.1544G>A (p.Gly515Asp)	Inborn genetic diseases [RCV004986110]	uncertain significance	17	40818991	40818991	Human	1	name
597868205	CV3742897	single nucleotide variant	NM_000421.5(KRT10):c.1426G>A (p.Gly476Arg)	not provided [RCV005068320]	uncertain significance	17	40819109	40819109	Human		name
597948633	CV3818365	microsatellite	NM_000421.5(KRT10):c.49GGA[7] (p.Gly24del)	not provided [RCV005160626]	benign	17	40822514	40822516	Human		name
597878348	CV3825917	single nucleotide variant	NM_000421.5(KRT10):c.1735T>C (p.Ser579Pro)	not provided [RCV005177791]	uncertain significance	17	40818800	40818800	Human		name
597961121	CV3844057	single nucleotide variant	NM_000421.5(KRT10):c.1601G>T (p.Ser534Ile)	not provided [RCV005192903]	uncertain significance	17	40818934	40818934	Human		name
8567906	CV38719	single nucleotide variant	NM_000421.5(KRT10):c.1300C>T (p.Gln434Ter)	Epidermolytic hyperkeratosis 2B, autosomal recessive [RCV004593975]\|not provided [RCV000056476]	pathogenic\|not provided	17	40819590	40819590	Human	1	name
8567907	CV38720	single nucleotide variant	NM_000421.5(KRT10):c.1281C>A (p.Cys427Ter)	Epidermolytic hyperkeratosis 2B, autosomal recessive [RCV004593976]	pathogenic	17	40819609	40819609	Human	1	name
598162650	CV3984202	single nucleotide variant	NM_000421.5(KRT10):c.1648G>T (p.Gly550Cys)	Inborn genetic diseases [RCV005368683]	uncertain significance	17	40818887	40818887	Human	1	name
598183980	CV3984203	single nucleotide variant	NM_000421.5(KRT10):c.1412G>A (p.Gly471Asp)	Inborn genetic diseases [RCV005352996]	uncertain significance	17	40819123	40819123	Human	1	name
598183986	CV3984204	single nucleotide variant	NM_000421.5(KRT10):c.1631G>C (p.Gly544Ala)	Inborn genetic diseases [RCV005352997]	uncertain significance	17	40818904	40818904	Human	1	name
598183991	CV3984205	single nucleotide variant	NM_000421.5(KRT10):c.1705T>A (p.Ser569Thr)	Inborn genetic diseases [RCV005352998]	uncertain significance	17	40818830	40818830	Human	1	name
598200182	CV4007411	single nucleotide variant	NM_000421.5(KRT10):c.1676G>T (p.Gly559Val)	Congenital reticular ichthyosiform erythroderma [RCV005398240]	uncertain significance	17	40818859	40818859	Human	1	name
8622043	CV77059	single nucleotide variant	NM_000421.5(KRT10):c.1333G>A (p.Glu445Lys)	not provided [RCV000056480]	not provided	17	40819557	40819557	Human		name
8622044	CV77060	single nucleotide variant	NM_000421.5(KRT10):c.1337T>C (p.Ile446Thr)	Ichthyosis, annular epidermolytic 1 [RCV004595904]\|not provided [RCV000056481]	pathogenic\|not provided	17	40819553	40819553	Human	1	name
8622045	CV77061	single nucleotide variant	NM_000421.5(KRT10):c.1340A>C (p.Gln447Pro)	not provided [RCV000056482]	not provided	17	40819550	40819550	Human		name
8622046	CV77062	single nucleotide variant	NM_000421.5(KRT10):c.1346A>G (p.Tyr449Cys)	not provided [RCV000056483]	not provided	17	40819544	40819544	Human		name
8622047	CV77063	single nucleotide variant	NM_000421.5(KRT10):c.1355T>C (p.Leu452Pro)	not provided [RCV000056484]	not provided	17	40819535	40819535	Human		name
8622048	CV77064	single nucleotide variant	NM_000421.5(KRT10):c.1358T>C (p.Leu453Pro)	not provided [RCV000056485]	not provided	17	40819532	40819532	Human		name
151749438	CV1380910	microsatellite	NM_000421.5(KRT10):c.1606GGC[7] (p.Gly541dup)	not provided [RCV002023220]	uncertain significance	17	40818911	40818912	Human		name
152086886	CV1601073	microsatellite	NM_000421.5(KRT10):c.1528GGC[4] (p.Gly512dup)	not provided [RCV002093607]	likely benign	17	40818998	40818999	Human		name
152151178	CV1631283	microsatellite	NM_000421.5(KRT10):c.1651AGC[3] (p.Ser553dup)	KRT10-related disorder [RCV003958502]\|not provided [RCV002179472]	benign\|likely benign	17	40818878	40818879	Human		name , trait , alternate_id
405288071	CV3200523	microsatellite	NM_000421.5(KRT10):c.1606GGC[5] (p.Gly541del)	KRT10-related disorder [RCV003982236]	benign	17	40818912	40818914	Human		name , trait , alternate_id
8599864	CV29623	deletion	NM_000421.5(KRT10):c.1560_1561del (p.Gly521fs)	Congenital reticular ichthyosiform erythroderma [RCV000015685]\|not provided [RCV000056488]	pathogenic\|not provided	17	40818974	40818975	Human	1	name
13541189	CV505872	indel	NM_000421.3(KRT10):c.1458_1459delCCins17 (p.?)	not specified [RCV000615808]	likely benign	17	40819076	40819077	Human		name
13530078	CV506798	indel	NM_000421.3(KRT10):c.1624_1640del17ins20 (p.?)	not specified [RCV000605981]	likely benign	17	40818895	40818911	Human		name
150543634	CV1309676	duplication	NM_000421.5(KRT10):c.1681_1683dup (p.Ser563dup)	not provided [RCV001885112]	uncertain significance	17	40818851	40818852	Human		name
405278388	CV3216618	deletion	NM_000421.5(KRT10):c.1443_1445del (p.Ser483del)	KRT10-related disorder [RCV003954520]	likely benign	17	40819090	40819092	Human		name , trait , alternate_id
8622042	CV77058	insertion	NM_000421.5(KRT10):c.1314_1315insC (p.Lys439fs)	Epidermolytic hyperkeratosis 2B, autosomal recessive [RCV004593983]\|not provided [RCV000056477]	pathogenic\|not provided	17	40819575	40819576	Human	1	name
8622049	CV77065	insertion	NM_000421.5(KRT10):c.1450_1451insC (p.Gly484fs)	not provided [RCV000056486]	not provided	17	40819084	40819085	Human		name
405163117	CV2895419	microsatellite	NM_000421.5(KRT10):c.49GGA[6] (p.Gly23_Gly24del)	not provided [RCV003562489]	uncertain significance	17	40822514	40822519	Human		name
405289975	CV3205924	deletion	NM_000421.5(KRT10):c.1629_1643del (p.543GGGSS[1])	KRT10-related disorder [RCV003962114]	benign	17	40818892	40818906	Human		name , trait , alternate_id
21075610	CV797527	duplication	NM_000421.5(KRT10):c.1639_1653dup (p.543GGGSS[3])	Congenital reticular ichthyosiform erythroderma [RCV005394603]\|KRT10-related disorder [RCV003936265]\|not provided [RCV000996532]	benign\|likely benign\|uncertain significance	17	40818881	40818882	Human	5	name , trait , alternate_id
150457285	CV1226181	indel	NM_000421.5(KRT10):c.1403_1417delinsA (p.Ser468fs)	Congenital reticular ichthyosiform erythroderma [RCV001619785]	pathogenic	17	40819118	40819132	Human		name
150542689	CV1314905	insertion	NM_000421.5(KRT10):c.1460_1461insGTTC (p.His487fs)	Congenital reticular ichthyosiform erythroderma [RCV005398242]	likely pathogenic\|uncertain significance	17	40819074	40819075	Human	1	name
8622050	CV77066	indel	NM_000421.5(KRT10):c.1546_1551delinsT (p.Gly516fs)	not provided [RCV000056487]	not provided	17	40818984	40818989	Human		name
126730428	CV1021638	insertion	NM_000421.5(KRT10):c.1640_1641insGGATA (p.Gly548fs)	Bullous ichthyosiform erythroderma [RCV001333428]	pathogenic	17	40818894	40818895	Human	1	name
150336549	CV1165101	insertion	NM_000421.5(KRT10):c.1457_1458insAAGCT (p.His487fs)	not provided [RCV001530894]	benign	17	40819077	40819078	Human		name
8564350	CV29619	indel	NM_000421.5(KRT10):c.1264_1265delinsGA (p.Arg422Glu)	Annular epidermolytic ichthyosis [RCV000015681]\|not provided [RCV000056474]	pathogenic\|not provided	17	40819625	40819626	Human		name
405221662	CV3056792	indel	NM_000421.5(KRT10):c.1459_1460delinsTC (p.His487Ser)	not provided [RCV003733405]	uncertain significance	17	40819075	40819076	Human		name
405188724	CV3149492	indel	NM_000421.5(KRT10):c.1687_1688delinsCC (p.Ser563Pro)	not provided [RCV003843218]	uncertain significance	17	40818847	40818848	Human		name
405270676	CV3219672	microsatellite	NM_000421.5(KRT10):c.1606GGC[3] (p.Gly539_Gly541del)	KRT10-related disorder [RCV003971432]	benign	17	40818912	40818920	Human		name , trait , alternate_id
8622059	CV77076	deletion	NM_000421.5(KRT10):c.481_486del (p.Leu161_Asp162del)	not provided [RCV000056503]	not provided	17	40822100	40822105	Human		name
151849716	CV1368530	deletion	NM_000421.5(KRT10):c.1650_1667del (p.Ser551_Gly556del)	not provided [RCV001978762]	uncertain significance	17	40818868	40818885	Human		name
152088867	CV1577262	duplication	NM_000421.5(KRT10):c.1569_1592dup (p.Ser525_Gly532dup)	KRT10-related disorder [RCV003950944]\|not provided [RCV002212443]	benign\|likely benign	17	40818942	40818943	Human		name , trait , alternate_id
156194293	CV2113565	deletion	NM_000421.5(KRT10):c.1564_1587del (p.His522_Gly529del)	not provided [RCV002957157]	benign	17	40818948	40818971	Human		name
405285593	CV3206521	deletion	NM_000421.5(KRT10):c.1459_1494del (p.His487_Gly498del)	KRT10-related disorder [RCV003981229]	likely benign	17	40819041	40819076	Human		name , trait , alternate_id
13532083	CV506794	duplication	NM_000421.5(KRT10):c.1654_1683dup (p.Gly556_Gly565dup)	Epidermolytic ichthyosis [RCV002506484]\|KRT10-related disorder [RCV003980188]\|not provided [RCV000948451]\|not specified [RCV000601257]	benign\|likely benign	17	40818851	40818852	Human	5	name , trait , alternate_id
15169139	CV704125	duplication	NM_000421.5(KRT10):c.1546_1572dup (p.Gly516_Gly524dup)	not provided [RCV000949400]	benign	17	40818962	40818963	Human		name
15164871	CV704126	microsatellite	NM_000421.5(KRT10):c.1456GGCCACGGCGGC[1] (p.486GHGG[1])	not provided [RCV000948452]	benign	17	40819056	40819067	Human		name
150334827	CV1164503	insertion	NM_000421.5(KRT10):c.1459_1460insGGCGGCGGCT (p.His487fs)	not provided [RCV001529894]	uncertain significance	17	40819075	40819076	Human		name
126730424	CV1021639	insertion	NM_000421.5(KRT10):c.1639_1640insGCGGCGGCGGC (p.Ser547fs)	Bullous ichthyosiform erythroderma [RCV001333427]	pathogenic	17	40818895	40818896	Human	1	name
126743724	CV1021640	insertion	NM_000421.5(KRT10):c.1457_1458insAAGCTCCGGCG (p.His487fs)	Bullous ichthyosiform erythroderma [RCV001336849]	pathogenic	17	40819077	40819078	Human	1	name
405012978	CV3128168	microsatellite	NM_000421.5(KRT10):c.354TGGAGGCGGCTTTGG[1] (p.121GFGGG[1])	not provided [RCV003829048]	uncertain significance	17	40822203	40822217	Human		name
150339742	CV1167685	microsatellite	NM_000421.5(KRT10):c.1506AAGCTCCGGCGGCGG[1] (p.503SSGGG[1])	not provided [RCV001534531]	benign	17	40819000	40819014	Human		name
151804059	CV1456878	microsatellite	NM_000421.5(KRT10):c.1428AAGCTCCGGCGGCGG[1] (p.477SSGGG[1])	not provided [RCV001877635]	uncertain significance	17	40819078	40819092	Human		name
13530308	CV506301	microsatellite	NM_000421.5(KRT10):c.1428AAGCTCCGGCGGCGG[4] (p.477SSGGG[4])	not specified [RCV000606079]	likely benign	17	40819077	40819078	Human		name
13531302	CV506799	microsatellite	NM_000421.5(KRT10):c.1428AAGCTCCGGCGGCGG[3] (p.477SSGGG[3])	not provided [RCV001697377]	likely benign\|conflicting interpretations of pathogenicity	17	40819077	40819078	Human		name
405285497	CV3212584	deletion	NM_000421.5(KRT10):c.1448_1459del (p.Ser483_His487delinsTyr)	KRT10-related disorder [RCV003959153]	likely benign	17	40819076	40819087	Human		name , trait , alternate_id
407428923	CV3414086	deletion	NM_000421.5(KRT10):c.1335_1337del (p.Glu445_Ile446delinsAsp)	not provided [RCV004594024]	uncertain significance	17	40819553	40819555	Human		name
13536529	CV505875	indel	NM_000421.5(KRT10):c.1443_1459delinsCT (p.Ser482_His487delinsTyr)	not specified [RCV000609132]	likely benign	17	40819076	40819092	Human		name
14740143	CV656431	indel	NM_000421.5(KRT10):c.1458_1460delinsAAGCTC (p.His487delinsSerSer)	not provided [RCV000840215]	likely benign	17	40819075	40819077	Human		name
8622041	CV77057	indel	NM_000421.5(KRT10):c.1281_1282delinsAA (p.Cys427_Gln428delinsTer)	not provided [RCV000056475]	not provided	17	40819608	40819609	Human		name
150542686	CV1314904	insertion	NM_000421.5(KRT10):c.1458_1459insTACGGCGGCGGCCACGGCGG (p.His487fs)	not provided [RCV001782356]	likely pathogenic	17	40819076	40819077	Human		name
8622053	CV77070	indel	NM_000421.5(KRT10):c.465_466delinsAA (p.Asp155_Arg156delinsGluSer)	not provided [RCV000056494]	not provided	17	40822120	40822121	Human		name
597845943	CV3880537	indel	NM_000421.5(KRT10):c.1209_1210delinsTT (p.Gln403_Leu404delinsHisPhe)	not provided [RCV005227425]	uncertain significance	17	40819680	40819681	Human		name
405162688	CV3153145	duplication	NM_000421.5(KRT10):c.1399_1416dup (p.Gly472_Tyr473insGlySerPheGlyGlyGly)	not provided [RCV003840880]	uncertain significance	17	40819118	40819119	Human		name
598200189	CV4007412	duplication	NM_000421.5(KRT10):c.1650_1667dup (p.Gly556_Tyr557insSerSerSerGlyGlyGly)	Congenital reticular ichthyosiform erythroderma [RCV005398241]	uncertain significance	17	40818867	40818868	Human	1	name
152044331	CV1534436	insertion	NM_000421.5(KRT10):c.1520_1521insCTACGGGGGCGG (p.Gly507_Ser508insTyrGlyGlyGly)	KRT10-related disorder [RCV003951013]\|not provided [RCV002088364]	benign\|likely benign	17	40819014	40819015	Human		name , trait , alternate_id
126911297	CV1038525	microsatellite	NM_000421.5(KRT10):c.1654AGCTCCGGCGGCGGATACGGCGGCGGCAGC[3] (p.556GYGGGSSSGG[3])	Epidermolytic ichthyosis [RCV002476626]\|not provided [RCV001355196]	uncertain significance	17	40818851	40818852	Human		name , alternate_id
155934454	CV2114018	microsatellite	NM_000421.5(KRT10):c.1506AAGCTCCGGCGGCGG[3] (p.Gly512_Tyr513insSerSerGlyGlyGly)	KRT10-related disorder [RCV003961190]\|not provided [RCV002904027]	likely benign\|uncertain significance	17	40818999	40819000	Human		name , trait , alternate_id
12902480	CV409920	microsatellite	NM_000421.5(KRT10):c.1654AGCTCCGGCGGCGGATACGGCGGCGGCAGC[4] (p.556GYGGGSSSGG[4])	not provided [RCV001856847]\|not specified [RCV000487197]	likely benign\|uncertain significance	17	40818851	40818852	Human		name
405061920	CV2926413	duplication	NM_000421.5(KRT10):c.1528_1554dup (p.Ser518_Ser519insGlyGlyGlyTyrGlyGlyGlySerSer)	KRT10-related disorder [RCV003909055]\|not provided [RCV003580537]	likely benign\|uncertain significance	17	40818980	40818981	Human		name , trait , alternate_id
14717900	CV656432	indel	NM_000421.5(KRT10):c.1458_1459delinsAAGCTCCGGCGGTGGCT (p.His487delinsSerSerGlyGlyGlyTyr)	not provided [RCV000830216]	likely benign	17	40819076	40819077	Human		name
405214057	CV2879599	microsatellite	NM_000421.5(KRT10):c.1506AAGCTCCGGCGGCGG[4] (p.Gly512_Tyr513insSerSerGlyGlyGlySerSerGlyGlyGly)	not provided [RCV003552986]	uncertain significance	17	40818999	40819000	Human		name
150471589	CV1281021	insertion	NM_000421.5(KRT10):c.1654_1655insAGCTCCGGCGGCGGATACGGCGGCGGCAGC (p.Ser552delinsLysLeuArgArgArgIleArgArgArgGlnArg)	not provided [RCV001713217]	benign	17	40818880	40818881	Human		name
156285377	CV1884778	insertion	NM_000421.5(KRT10):c.1675_1676insCAGGCAGCAGCTCCGGCGGCGGATACGGCG (p.Gly558_Gly559insAlaGlySerSerSerGlyGlyGlyTyrGly)	not provided [RCV003061223]	likely benign	17	40818859	40818860	Human		name
405230262	CV3153849	microsatellite	NM_000421.5(KRT10):c.1546GGAAGCTCCAGCGGCGGCCACGGCGGC[3] (p.Gly524_Ser525insGlySerSerSerGlyGlyHisGlyGlyGlySerSerSerGlyGlyHisGlyGly)	not provided [RCV003848716]	uncertain significance	17	40818962	40818963	Human		name
151662306	CV1330316	single nucleotide variant	NM_006121.4(KRT1):c.563A>T (p.Asn188Ile)	Epidermolytic ichthyosis [RCV001823798]	likely pathogenic	12	52679786	52679786	Human	2	alternate_id
8600024	CV30946	single nucleotide variant	NM_006121.4(KRT1):c.931G>C (p.Glu311Gln)	Epidermolytic ichthyosis [RCV000017258]	pathogenic	12	52677682	52677682	Human	2	alternate_id
8600025	CV30947	single nucleotide variant	NM_006121.4(KRT1):c.482T>C (p.Leu161Pro)	Epidermolytic ichthyosis [RCV000017259]\|not provided [RCV000057083]	pathogenic\|not provided	12	52679867	52679867	Human	2	alternate_id
8600026	CV30948	single nucleotide variant	NM_006121.4(KRT1):c.1445A>G (p.Tyr482Cys)	Epidermolytic ichthyosis [RCV000017260]\|not provided [RCV000057065]	pathogenic\|likely pathogenic\|not provided	12	52676305	52676305	Human	2	alternate_id
8600030	CV30952	single nucleotide variant	NM_006121.4(KRT1):c.464T>A (p.Val155Asp)	Epidermolytic ichthyosis [RCV000017264]\|not provided [RCV000057081]	pathogenic\|not provided	12	52679885	52679885	Human	2	alternate_id
8600031	CV30953	single nucleotide variant	NM_006121.4(KRT1):c.564C>A (p.Asn188Lys)	Epidermolytic ichthyosis [RCV000017265]\|KRT1-related disorder [RCV003390687]\|not provided [RCV000057092]	pathogenic\|not provided	12	52679785	52679785	Human	3	alternate_id
8600032	CV30954	single nucleotide variant	NM_006121.4(KRT1):c.1424T>C (p.Leu475Pro)	Epidermolytic ichthyosis [RCV000017266]\|KRT1-related disorder [RCV003398527]	pathogenic\|uncertain significance	12	52676326	52676326	Human	3	alternate_id
8565312	CV30960	duplication	NM_006121.4(KRT1):c.1757dup (p.Tyr587fs)	Epidermolytic ichthyosis [RCV003227463]\|not provided [RCV004724746]	pathogenic	12	52675370	52675371	Human	2	alternate_id
11599377	CV317865	single nucleotide variant	NM_006121.4(KRT1):c.*91T>C	Diffuse nonepidermolytic palmoplantar keratoderma [RCV000264950]\|Epidermolytic ichthyosis [RCV000322368]	benign\|likely benign	12	52675102	52675102	Human	4	alternate_id
11598713	CV317866	single nucleotide variant	NM_006121.4(KRT1):c.1912A>G (p.Thr638Ala)	Diffuse nonepidermolytic palmoplantar keratoderma [RCV000379712]\|Epidermolytic ichthyosis [RCV000259398]\|Inborn genetic diseases [RCV004021549]	benign\|likely benign\|uncertain significance	12	52675216	52675216	Human	5	alternate_id
11603659	CV317877	single nucleotide variant	NM_006121.4(KRT1):c.1482T>C (p.Ser494=)	Diffuse nonepidermolytic palmoplantar keratoderma [RCV000406124]\|Epidermolytic ichthyosis [RCV000302019]\|not provided [RCV003727658]	benign\|likely benign	12	52675738	52675738	Human	4	alternate_id
11598867	CV317878	single nucleotide variant	NM_006121.4(KRT1):c.1475+14G>A	Diffuse nonepidermolytic palmoplantar keratoderma [RCV000260988]\|Epidermolytic ichthyosis [RCV000359196]	likely benign\|uncertain significance	12	52676261	52676261	Human	4	alternate_id
11606121	CV317884	single nucleotide variant	NM_006121.4(KRT1):c.1074C>T (p.Tyr358=)	Diffuse nonepidermolytic palmoplantar keratoderma [RCV000327656]\|Epidermolytic ichthyosis [RCV000382210]\|not provided [RCV000892160]\|not specified [RCV000614502]	benign\|likely benign	12	52677370	52677370	Human	4	alternate_id
11602087	CV317886	single nucleotide variant	NM_006121.4(KRT1):c.1035C>T (p.Leu345=)	Diffuse nonepidermolytic palmoplantar keratoderma [RCV000333303]\|Epidermolytic ichthyosis [RCV000287608]\|not provided [RCV002056316]	benign\|likely benign	12	52677409	52677409	Human	4	alternate_id
11602750	CV317888	single nucleotide variant	NM_006121.4(KRT1):c.1031G>A (p.Ser344Asn)	Diffuse nonepidermolytic palmoplantar keratoderma [RCV000293335]\|Epidermolytic ichthyosis [RCV000387838]\|KRT1-related disorder [RCV003940181]\|not provided [RCV000948893]	benign\|likely benign	12	52677413	52677413	Human	5	alternate_id
11601240	CV317890	single nucleotide variant	NM_006121.4(KRT1):c.762G>A (p.Ser254=)	Diffuse nonepidermolytic palmoplantar keratoderma [RCV000280537]\|Epidermolytic ichthyosis [RCV000335608]\|not provided [RCV000954868]	benign\|likely benign	12	52678586	52678586	Human	4	alternate_id
11646356	CV317901	single nucleotide variant	NM_006121.4(KRT1):c.374G>A (p.Gly125Asp)	Diffuse nonepidermolytic palmoplantar keratoderma [RCV000325503]\|Epidermolytic ichthyosis [RCV000270471]	uncertain significance	12	52679975	52679975	Human	4	alternate_id
11600818	CV317902	single nucleotide variant	NM_006121.4(KRT1):c.302G>T (p.Gly101Val)	Diffuse nonepidermolytic palmoplantar keratoderma [RCV000276820]\|Epidermolytic ichthyosis [RCV000371370]	uncertain significance	12	52680047	52680047	Human	4	alternate_id
11616424	CV325742	single nucleotide variant	NM_006121.4(KRT1):c.1669A>G (p.Ser557Gly)	Diffuse nonepidermolytic palmoplantar keratoderma [RCV000386629]\|Epidermolytic ichthyosis [RCV000294675]\|KRT1-related disorder [RCV004754387]\|not provided [RCV002056314]	benign\|likely benign	12	52675459	52675459	Human	5	alternate_id
11621732	CV325744	single nucleotide variant	NM_006121.4(KRT1):c.1527C>T (p.His509=)	Diffuse nonepidermolytic palmoplantar keratoderma [RCV000403116]\|Epidermolytic ichthyosis [RCV000352069]	benign\|likely benign\|uncertain significance	12	52675601	52675601	Human	4	alternate_id
11613915	CV325757	single nucleotide variant	NM_006121.4(KRT1):c.1107C>T (p.Ala369=)	Diffuse nonepidermolytic palmoplantar keratoderma [RCV000272490]\|Epidermolytic ichthyosis [RCV000357895]\|not provided [RCV002056315]	benign\|likely benign	12	52677337	52677337	Human	4	alternate_id
11622373	CV325760	single nucleotide variant	NM_006121.4(KRT1):c.592-8G>A	Diffuse nonepidermolytic palmoplantar keratoderma [RCV000396075]\|Epidermolytic ichthyosis [RCV000359624]\|not provided [RCV000965961]	benign\|likely benign	12	52678764	52678764	Human	4	alternate_id
11653628	CV331990	single nucleotide variant	NM_006121.4(KRT1):c.*372G>A	Diffuse nonepidermolytic palmoplantar keratoderma [RCV000350571]\|Epidermolytic ichthyosis [RCV000311999]	uncertain significance	12	52674821	52674821	Human	4	alternate_id
11618577	CV331994	single nucleotide variant	NM_006121.4(KRT1):c.*344C>T	Diffuse nonepidermolytic palmoplantar keratoderma [RCV000315537]\|Epidermolytic ichthyosis [RCV000404540]\|not provided [RCV004707000]	benign	12	52674849	52674849	Human	4	alternate_id
11615038	CV331999	single nucleotide variant	NM_006121.4(KRT1):c.1677C>T (p.Tyr559=)	Diffuse nonepidermolytic palmoplantar keratoderma [RCV000281821]\|Epidermolytic ichthyosis [RCV000348462]\|KRT1-related disorder [RCV004754386]	benign\|likely benign	12	52675451	52675451	Human	5	alternate_id
11617813	CV332000	single nucleotide variant	NM_006121.4(KRT1):c.1506T>C (p.Ser502=)	Diffuse nonepidermolytic palmoplantar keratoderma [RCV000346261]\|Epidermolytic ichthyosis [RCV000307817]\|not provided [RCV000879822]	benign\|likely benign	12	52675714	52675714	Human	4	alternate_id
11621442	CV332003	single nucleotide variant	NM_006121.4(KRT1):c.982A>T (p.Thr328Ser)	Diffuse nonepidermolytic palmoplantar keratoderma [RCV000348492]\|Epidermolytic ichthyosis [RCV000407441]\|KRT1-related disorder [RCV003910144]\|not provided [RCV000895545]	benign\|likely benign\|conflicting interpretations of pathogenicity	12	52677462	52677462	Human	5	alternate_id
11617484	CV332006	single nucleotide variant	NM_006121.4(KRT1):c.741T>C (p.Ser247=)	Diffuse nonepidermolytic palmoplantar keratoderma [RCV000405502]\|Epidermolytic ichthyosis [RCV000304794]\|not provided [RCV000879823]	benign\|likely benign	12	52678607	52678607	Human	4	alternate_id
11653433	CV332018	single nucleotide variant	NM_006121.4(KRT1):c.477G>C (p.Gln159His)	Diffuse nonepidermolytic palmoplantar keratoderma [RCV000310772]\|Epidermolytic ichthyosis [RCV000365456]	uncertain significance	12	52679872	52679872	Human	4	alternate_id
11656244	CV332032	single nucleotide variant	NM_006121.4(KRT1):c.257G>A (p.Arg86His)	Diffuse nonepidermolytic palmoplantar keratoderma [RCV000386357]\|Epidermolytic ichthyosis [RCV000331807]\|not provided [RCV004808677]	uncertain significance	12	52680092	52680092	Human	4	alternate_id
11615073	CV332034	single nucleotide variant	NM_006121.4(KRT1):c.113G>A (p.Arg38His)	Diffuse nonepidermolytic palmoplantar keratoderma [RCV000318815]\|Epidermolytic ichthyosis [RCV000282510]\|KRT1-related disorder [RCV003957605]\|not provided [RCV000891092]\|not specified [RCV000614883]	benign\|likely benign	12	52680236	52680236	Human	5	alternate_id
11646431	CV333500	single nucleotide variant	NM_006121.4(KRT1):c.*275G>A	Diffuse nonepidermolytic palmoplantar keratoderma [RCV000363167]\|Epidermolytic ichthyosis [RCV000270911]	uncertain significance	12	52674918	52674918	Human	4	alternate_id
11618006	CV333506	single nucleotide variant	NM_006121.4(KRT1):c.*95G>A	Diffuse nonepidermolytic palmoplantar keratoderma [RCV000366593]\|Epidermolytic ichthyosis [RCV000309537]	benign\|likely benign	12	52675098	52675098	Human	4	alternate_id
11618719	CV333512	single nucleotide variant	NM_006121.4(KRT1):c.1898A>G (p.Lys633Arg)	Diffuse nonepidermolytic palmoplantar keratoderma [RCV000373990]\|Epidermolytic ichthyosis [RCV000317034]\|not provided [RCV001642964]	benign	12	52675230	52675230	Human	4	alternate_id
11620903	CV333518	single nucleotide variant	NM_006121.4(KRT1):c.-21C>T	Diffuse nonepidermolytic palmoplantar keratoderma [RCV000407815]\|Epidermolytic ichthyosis [RCV000342549]	benign\|likely benign	12	52680369	52680369	Human	4	alternate_id
12739055	CV360854	single nucleotide variant	NM_000094.4(COL7A1):c.1442G>A (p.Arg481His)	Epidermolytic ichthyosis [RCV000415424]\|not provided [RCV002524663]\|not specified [RCV003387838]	likely pathogenic\|uncertain significance	3	48591738	48591738	Human	4	alternate_id
13212067	CV425999	single nucleotide variant	NM_006121.4(KRT1):c.1453C>T (p.Leu485Phe)	Epidermolytic ichthyosis [RCV002496908]\|not provided [RCV000498290]	pathogenic\|likely pathogenic	12	52676297	52676297	Human	4	alternate_id
8622498	CV77518	single nucleotide variant	NM_006121.4(KRT1):c.1360G>T (p.Ala454Ser)	Diffuse nonepidermolytic palmoplantar keratoderma [RCV000266755]\|Epidermolytic ichthyosis [RCV000321881]\|not provided [RCV000057055]	benign\|likely benign\|not provided	12	52676390	52676390	Human	4	alternate_id
8622500	CV77520	single nucleotide variant	NM_006121.4(KRT1):c.1389C>T (p.Arg463=)	Diffuse nonepidermolytic palmoplantar keratoderma [RCV000361470]\|Epidermolytic ichthyosis [RCV000297416]\|not provided [RCV000057057]	benign\|not provided	12	52676361	52676361	Human	4	alternate_id
8622535	CV77556	single nucleotide variant	NM_006121.4(KRT1):c.623T>C (p.Leu208Pro)	Epidermolytic ichthyosis [RCV000505690]\|not provided [RCV000057101]	pathogenic\|not provided	12	52678725	52678725	Human	2	alternate_id
8622540	CV77561	single nucleotide variant	NM_006121.4(KRT1):c.75C>T (p.Ile25=)	Diffuse nonepidermolytic palmoplantar keratoderma [RCV000373559]\|Epidermolytic ichthyosis [RCV000279028]\|not provided [RCV000057106]	benign\|likely benign\|not provided	12	52680274	52680274	Human	4	alternate_id
28870895	CV870136	single nucleotide variant	NM_006121.4(KRT1):c.*72G>T	Diffuse nonepidermolytic palmoplantar keratoderma [RCV001113792]\|Epidermolytic ichthyosis [RCV001113791]	uncertain significance	12	52675121	52675121	Human	4	alternate_id
28911001	CV870137	single nucleotide variant	NM_006121.4(KRT1):c.1666G>A (p.Gly556Ser)	Diffuse nonepidermolytic palmoplantar keratoderma [RCV001109768]\|Epidermolytic ichthyosis [RCV001109769]\|not provided [RCV002556147]	uncertain significance	12	52675462	52675462	Human	4	alternate_id
28911002	CV870138	single nucleotide variant	NM_006121.4(KRT1):c.1564G>A (p.Gly522Ser)	Diffuse nonepidermolytic palmoplantar keratoderma [RCV001110560]\|Epidermolytic ichthyosis [RCV001109770]	uncertain significance	12	52675564	52675564	Human	4	alternate_id
28871047	CV870139	single nucleotide variant	NM_006121.4(KRT1):c.1358A>C (p.Gln453Pro)	Diffuse nonepidermolytic palmoplantar keratoderma [RCV001113871]\|Epidermolytic ichthyosis [RCV001113870]	uncertain significance	12	52676392	52676392	Human	4	alternate_id
28871049	CV870140	single nucleotide variant	NM_006121.4(KRT1):c.1294C>T (p.Arg432Cys)	Diffuse nonepidermolytic palmoplantar keratoderma [RCV001113873]\|Epidermolytic ichthyosis [RCV001113872]\|KRT1-related disorder [RCV004754691]\|not provided [RCV003718331]	benign\|likely benign	12	52676456	52676456	Human	5	alternate_id
28911044	CV870141	single nucleotide variant	NM_006121.4(KRT1):c.1002T>C (p.Asn334=)	Diffuse nonepidermolytic palmoplantar keratoderma [RCV001109856]\|Epidermolytic ichthyosis [RCV001110650]	uncertain significance	12	52677442	52677442	Human	4	alternate_id
28868639	CV870142	single nucleotide variant	NM_006121.4(KRT1):c.729C>T (p.Asp243=)	Diffuse nonepidermolytic palmoplantar keratoderma [RCV001112623]\|Epidermolytic ichthyosis [RCV001110651]	uncertain significance	12	52678619	52678619	Human	4	alternate_id
28871243	CV870143	single nucleotide variant	NM_006121.4(KRT1):c.45G>A (p.Gly15=)	Diffuse nonepidermolytic palmoplantar keratoderma [RCV001113977]\|Epidermolytic ichthyosis [RCV001113976]	benign\|likely benign	12	52680304	52680304	Human	4	alternate_id
28911445	CV872262	single nucleotide variant	NM_006121.4(KRT1):c.1511-11T>C	Diffuse nonepidermolytic palmoplantar keratoderma [RCV001110561]\|Epidermolytic ichthyosis [RCV001110562]	benign\|likely benign	12	52675628	52675628	Human	4	alternate_id

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