Ercc4 Variant Search Result - Rat Genome Database

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Variants search result for Homo sapiens
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924 records found for search term Ercc4

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
11549309	CV255458	single nucleotide variant	NM_005236.3(ERCC4):c.*11C>T	Xeroderma pigmentosum, group F [RCV000327126]\|not provided [RCV001660278]\|not specified [RCV000250244]	benign\|likely benign	16	13948358	13948358	Human	1	name
11662693	CV324164	single nucleotide variant	NM_005236.3(ERCC4):c.*150T>C	Xeroderma pigmentosum, group F [RCV000388735]	uncertain significance	16	13948497	13948497	Human	1	name
11603068	CV324165	single nucleotide variant	NM_005236.3(ERCC4):c.*192T>C	Xeroderma pigmentosum, group F [RCV000296569]	uncertain significance	16	13948539	13948539	Human	1	name
11611709	CV324171	single nucleotide variant	NM_005236.3(ERCC4):c.*539G>A	Xeroderma pigmentosum, group F [RCV000398977]	uncertain significance	16	13948886	13948886	Human	1	name
11603825	CV324175	single nucleotide variant	NM_005236.3(ERCC4):c.*558A>C	Xeroderma pigmentosum, group F [RCV000303898]	likely benign\|uncertain significance	16	13948905	13948905	Human	1	name
11653361	CV324178	single nucleotide variant	NM_005236.3(ERCC4):c.*859A>C	Xeroderma pigmentosum, group F [RCV000310630]	uncertain significance	16	13949206	13949206	Human	1	name
11600642	CV324179	single nucleotide variant	NM_005236.3(ERCC4):c.*947T>C	Xeroderma pigmentosum, group F [RCV000275355]	likely benign\|uncertain significance	16	13949294	13949294	Human	1	name
11606329	CV324180	single nucleotide variant	NM_005236.3(ERCC4):c.*971C>G	Xeroderma pigmentosum, group F [RCV000330321]\|not provided [RCV004715939]	benign	16	13949318	13949318	Human	1	name
11624572	CV333741	single nucleotide variant	NM_005236.3(ERCC4):c.*248G>T	Xeroderma pigmentosum, group F [RCV000387565]	uncertain significance	16	13948595	13948595	Human	1	name
11648335	CV333747	single nucleotide variant	NM_005236.3(ERCC4):c.*384A>G	Xeroderma pigmentosum, group F [RCV000281423]	uncertain significance	16	13948731	13948731	Human	1	name
11625506	CV333758	single nucleotide variant	NM_005236.3(ERCC4):c.*675G>T	Xeroderma pigmentosum, group F [RCV000399809]	likely benign	16	13949022	13949022	Human	1	name
11660225	CV333759	single nucleotide variant	NM_005236.3(ERCC4):c.*875A>G	Xeroderma pigmentosum, group F [RCV000365263]	uncertain significance	16	13949222	13949222	Human	1	name
11621489	CV340505	single nucleotide variant	NM_005236.3(ERCC4):c.*248G>A	Xeroderma pigmentosum, group F [RCV000349389]	uncertain significance	16	13948595	13948595	Human	1	name
11620583	CV340508	single nucleotide variant	NM_005236.3(ERCC4):c.*484G>T	Xeroderma pigmentosum, group F [RCV000338839]\|not provided [RCV004715028]	benign	16	13948831	13948831	Human	1	name
11617299	CV340511	single nucleotide variant	NM_005236.3(ERCC4):c.*726G>C	Xeroderma pigmentosum, group F [RCV000302862]\|not provided [RCV004715029]	benign	16	13949073	13949073	Human	1	name
11613558	CV340519	single nucleotide variant	NM_005236.3(ERCC4):c.*810G>A	Xeroderma pigmentosum, group F [RCV000269593]\|not provided [RCV004715938]	benign	16	13949157	13949157	Human	1	name
11620901	CV341885	single nucleotide variant	NM_005236.3(ERCC4):c.*674G>C	Xeroderma pigmentosum, group F [RCV000342516]	benign\|likely benign	16	13949021	13949021	Human	1	name
11622780	CV341886	single nucleotide variant	NM_005236.3(ERCC4):c.*745A>G	Xeroderma pigmentosum, group F [RCV000364610]	uncertain significance	16	13949092	13949092	Human	1	name
28881240	CV874644	single nucleotide variant	NM_005236.3(ERCC4):c.*106A>G	Xeroderma pigmentosum, group F [RCV001117768]	uncertain significance	16	13948453	13948453	Human	1	name
28886377	CV874645	single nucleotide variant	NM_005236.3(ERCC4):c.*218A>G	Xeroderma pigmentosum, group F [RCV001119324]	uncertain significance	16	13948565	13948565	Human	1	name
28886385	CV874646	single nucleotide variant	NM_005236.3(ERCC4):c.*411C>T	Xeroderma pigmentosum, group F [RCV001119325]	uncertain significance	16	13948758	13948758	Human	1	name
28892435	CV874647	single nucleotide variant	NM_005236.3(ERCC4):c.*630C>T	Xeroderma pigmentosum, group F [RCV001121343]	uncertain significance	16	13948977	13948977	Human	1	name
28892438	CV874648	single nucleotide variant	NM_005236.3(ERCC4):c.*701A>T	Xeroderma pigmentosum, group F [RCV001121344]	likely benign	16	13949048	13949048	Human	1	name
28892442	CV874649	single nucleotide variant	NM_005236.3(ERCC4):c.*712A>G	Xeroderma pigmentosum, group F [RCV001121345]	uncertain significance	16	13949059	13949059	Human	1	name
151881121	CV1437310	single nucleotide variant	NM_005236.3(ERCC4):c.207+6G>T	Xeroderma pigmentosum, group F [RCV001999589]	uncertain significance	16	13920378	13920378	Human	1	name
152033571	CV1542727	single nucleotide variant	NM_005236.3(ERCC4):c.389-8C>G	Xeroderma pigmentosum, group F [RCV002106599]	likely benign	16	13926553	13926553	Human	1	name
152070284	CV1581179	single nucleotide variant	NM_005236.3(ERCC4):c.974-8C>T	Xeroderma pigmentosum, group F [RCV002091490]	likely benign	16	13932149	13932149	Human	1	name
152087249	CV1625838	single nucleotide variant	NM_005236.3(ERCC4):c.973+7G>A	Xeroderma pigmentosum, group F [RCV002131583]	likely benign	16	13930897	13930897	Human	1	name
10404639	CV208242	single nucleotide variant	NM_005236.3(ERCC4):c.*2577C>A	Xeroderma pigmentosum, group F [RCV000369259]\|not provided [RCV004705022]\|not specified [RCV000194891]	benign\|likely benign	16	13950924	13950924	Human	1	name
10403509	CV208243	deletion	NM_005236.3(ERCC4):c.*2577del	Xeroderma pigmentosum [RCV000314550]\|not specified [RCV000192706]	benign\|likely benign	16	13950919	13950919	Human	1	name
155900948	CV2126916	single nucleotide variant	NM_005236.3(ERCC4):c.208-3T>G	Xeroderma pigmentosum, group F [RCV002967414]	uncertain significance	16	13922028	13922028	Human	1	name
10449724	CV215505	single nucleotide variant	NM_005236.3(ERCC4):c.974-6T>C	Hereditary cancer-predisposing syndrome [RCV005251092]\|Xeroderma pigmentosum [RCV002257501]\|Xeroderma pigmentosum, group F [RCV000353369]\|Xeroderma pigmentosum, group F [RCV000964431]\|not provided [RCV003417735]\|not specified [RCV000202807]	benign\|likely benign\|uncertain significance	16	13932151	13932151	Human	3	name
11546514	CV255455	single nucleotide variant	NM_005236.3(ERCC4):c.974-7G>A	Fanconi anemia complementation group Q [RCV001660282]\|XFE progeroid syndrome [RCV001660281]\|Xeroderma pigmentosum, group F [RCV000318579]\|Xeroderma pigmentosum, group F [RCV001520608]\|not provided [RCV001689852]\|not specified [RCV000246561]	benign	16	13932150	13932150	Human	3	name
405009151	CV3083220	single nucleotide variant	NM_005236.3(ERCC4):c.792+7T>C	Xeroderma pigmentosum, group F [RCV003784167]	likely benign	16	13928242	13928242	Human	1	name
402513417	CV3087447	single nucleotide variant	NM_005236.3(ERCC4):c.389-5C>A	Xeroderma pigmentosum, group F [RCV003789798]	likely benign	16	13926556	13926556	Human	1	name
405006424	CV3098539	single nucleotide variant	NM_005236.3(ERCC4):c.208-7G>T	Xeroderma pigmentosum, group F [RCV003804470]	likely benign	16	13922024	13922024	Human	1	name
11611588	CV324184	single nucleotide variant	NM_005236.3(ERCC4):c.*2139A>C	Xeroderma pigmentosum, group F [RCV000397371]	likely benign\|uncertain significance	16	13950486	13950486	Human	1	name
11657757	CV324188	single nucleotide variant	NM_005236.3(ERCC4):c.*2180G>A	Xeroderma pigmentosum, group F [RCV000344030]	uncertain significance	16	13950527	13950527	Human	1	name
11654234	CV324190	single nucleotide variant	NM_005236.3(ERCC4):c.*2659T>C	Xeroderma pigmentosum, group F [RCV000315948]	uncertain significance	16	13951006	13951006	Human	1	name
11610316	CV324201	single nucleotide variant	NM_005236.3(ERCC4):c.*3032G>T	Xeroderma pigmentosum, group F [RCV000380253]\|not provided [RCV004715941]	benign	16	13951379	13951379	Human	1	name
11608274	CV324203	single nucleotide variant	NM_005236.3(ERCC4):c.*3439G>A	Xeroderma pigmentosum, group F [RCV000352623]	likely benign\|uncertain significance	16	13951786	13951786	Human	1	name
11603373	CV324207	single nucleotide variant	NM_005236.3(ERCC4):c.*3537C>T	Xeroderma pigmentosum, group F [RCV000299131]	likely benign	16	13951884	13951884	Human	1	name
11599217	CV324209	single nucleotide variant	NM_005236.3(ERCC4):c.*3913G>C	Xeroderma pigmentosum, group F [RCV000263984]\|not provided [RCV004715036]	benign\|likely benign	16	13952260	13952260	Human	1	name
11623365	CV333761	single nucleotide variant	NM_005236.3(ERCC4):c.*1708G>A	Xeroderma pigmentosum, group F [RCV000372133]	likely benign\|uncertain significance	16	13950055	13950055	Human	1	name
11615096	CV333766	single nucleotide variant	NM_005236.3(ERCC4):c.*1774C>T	Xeroderma pigmentosum, group F [RCV000282313]	uncertain significance	16	13950121	13950121	Human	1	name
11613979	CV333767	single nucleotide variant	NM_005236.3(ERCC4):c.*2513C>A	Xeroderma pigmentosum, group F [RCV000273445]\|not provided [RCV004715940]	benign	16	13950860	13950860	Human	1	name
11655546	CV333769	single nucleotide variant	NM_005236.3(ERCC4):c.*3071T>C	Xeroderma pigmentosum, group F [RCV000326683]	uncertain significance	16	13951418	13951418	Human	1	name
11654430	CV340521	single nucleotide variant	NM_005236.3(ERCC4):c.*1463C>T	Xeroderma pigmentosum, group F [RCV000317354]	uncertain significance	16	13949810	13949810	Human	1	name
11620460	CV340523	single nucleotide variant	NM_005236.3(ERCC4):c.*1796T>C	Xeroderma pigmentosum, group F [RCV000337072]	uncertain significance	16	13950143	13950143	Human	1	name
11657645	CV340534	single nucleotide variant	NM_005236.3(ERCC4):c.*1897A>C	Xeroderma pigmentosum, group F [RCV000342726]	uncertain significance	16	13950244	13950244	Human	1	name
11612608	CV340538	single nucleotide variant	NM_005236.3(ERCC4):c.*2588A>G	Xeroderma pigmentosum, group F [RCV000260743]\|not provided [RCV004693262]	uncertain significance	16	13950935	13950935	Human	1	name
11624055	CV340542	single nucleotide variant	NM_005236.3(ERCC4):c.*3125A>G	Xeroderma pigmentosum, group F [RCV000381289]\|not provided [RCV004715032]	benign\|likely benign	16	13951472	13951472	Human	1	name
11625128	CV340551	single nucleotide variant	NM_005236.3(ERCC4):c.*3200A>G	Xeroderma pigmentosum, group F [RCV000394915]	likely benign\|uncertain significance	16	13951547	13951547	Human	1	name
11616275	CV340552	single nucleotide variant	NM_005236.3(ERCC4):c.*3327A>G	Xeroderma pigmentosum, group F [RCV000293117]	benign\|likely benign	16	13951674	13951674	Human	1	name
11659012	CV340553	single nucleotide variant	NM_005236.3(ERCC4):c.*3542T>C	Xeroderma pigmentosum, group F [RCV000354023]	uncertain significance	16	13951889	13951889	Human	1	name
11617045	CV340554	single nucleotide variant	NM_005236.3(ERCC4):c.*3801C>T	Xeroderma pigmentosum, group F [RCV000300294]\|not provided [RCV004715035]	benign\|likely benign	16	13952148	13952148	Human	1	name
11622396	CV340564	deletion	NM_005236.3(ERCC4):c.*3953del	Xeroderma pigmentosum [RCV000359931]	benign	16	13952293	13952293	Human	1	name
11624692	CV341887	single nucleotide variant	NM_005236.3(ERCC4):c.*1251T>C	Xeroderma pigmentosum, group F [RCV000389588]	uncertain significance	16	13949598	13949598	Human	1	name
11614344	CV341889	single nucleotide variant	NM_005236.3(ERCC4):c.*1421G>T	Xeroderma pigmentosum, group F [RCV000276328]\|not provided [RCV004715030]	benign\|likely benign	16	13949768	13949768	Human	1	name
11623804	CV341901	single nucleotide variant	NM_005236.3(ERCC4):c.*1858C>T	Xeroderma pigmentosum, group F [RCV000377700]	uncertain significance	16	13950205	13950205	Human	1	name
11615137	CV341902	single nucleotide variant	NM_005236.3(ERCC4):c.*1880C>T	Xeroderma pigmentosum, group F [RCV000283078]	benign\|likely benign	16	13950227	13950227	Human	1	name
11617791	CV341905	single nucleotide variant	NM_005236.3(ERCC4):c.*2174A>G	Xeroderma pigmentosum, group F [RCV000307948]\|not provided [RCV004715031]	benign\|likely benign	16	13950521	13950521	Human	1	name
11663763	CV341909	single nucleotide variant	NM_005236.3(ERCC4):c.*2240A>G	Xeroderma pigmentosum, group F [RCV000399293]	uncertain significance	16	13950587	13950587	Human	1	name
11653026	CV341910	single nucleotide variant	NM_005236.3(ERCC4):c.*2255G>A	Xeroderma pigmentosum, group F [RCV000308598]	uncertain significance	16	13950602	13950602	Human	1	name
11660515	CV341914	single nucleotide variant	NM_005236.3(ERCC4):c.*2423A>G	Xeroderma pigmentosum, group F [RCV000367920]	uncertain significance	16	13950770	13950770	Human	1	name
11623602	CV341915	single nucleotide variant	NM_005236.3(ERCC4):c.*2759C>T	Xeroderma pigmentosum, group F [RCV000375160]	uncertain significance	16	13951106	13951106	Human	1	name
11645500	CV341918	single nucleotide variant	NM_005236.3(ERCC4):c.*2872A>C	Xeroderma pigmentosum, group F [RCV000265952]	uncertain significance	16	13951219	13951219	Human	1	name
11619049	CV341920	single nucleotide variant	NM_005236.3(ERCC4):c.*2879A>C	Xeroderma pigmentosum, group F [RCV000321089]	uncertain significance	16	13951226	13951226	Human	1	name
11649180	CV341926	single nucleotide variant	NM_005236.3(ERCC4):c.*3044A>C	Xeroderma pigmentosum, group F [RCV000285923]	uncertain significance	16	13951391	13951391	Human	1	name
11616072	CV341927	single nucleotide variant	NM_005236.3(ERCC4):c.*3130T>C	Xeroderma pigmentosum, group F [RCV000291659]	uncertain significance	16	13951477	13951477	Human	1	name
11621267	CV341931	single nucleotide variant	NM_005236.3(ERCC4):c.*3195G>A	Xeroderma pigmentosum, group F [RCV000346605]\|not provided [RCV004715033]	benign	16	13951542	13951543	Human	4	name
11621267	CV341931	single nucleotide variant	NM_005236.3(ERCC4):c.*3195G>A	Xeroderma pigmentosum, group F [RCV000346605]\|not provided [RCV004715033]	benign	16	13951542	13951542	Human	4	name
11625701	CV341938	single nucleotide variant	NM_005236.3(ERCC4):c.*3493T>C	Xeroderma pigmentosum, group F [RCV000402317]\|not provided [RCV004715034]	benign\|likely benign	16	13951840	13951840	Human	1	name
11663940	CV341939	single nucleotide variant	NM_005236.3(ERCC4):c.*3753C>G	Xeroderma pigmentosum, group F [RCV000401093]	uncertain significance	16	13952100	13952100	Human	1	name
11659500	CV341941	single nucleotide variant	NM_005236.3(ERCC4):c.*3818G>A	Xeroderma pigmentosum, group F [RCV000358724]	uncertain significance	16	13952165	13952165	Human	1	name
11619287	CV341946	single nucleotide variant	NM_005236.3(ERCC4):c.*3921A>C	Xeroderma pigmentosum, group F [RCV000323834]	uncertain significance	16	13952268	13952268	Human	1	name
597757686	CV3711340	single nucleotide variant	NM_005236.3(ERCC4):c.388+1G>A	Xeroderma pigmentosum, group F [RCV005017636]	likely pathogenic	16	13922212	13922212	Human	1	name
597757691	CV3711341	single nucleotide variant	NM_005236.3(ERCC4):c.389-6C>G	Xeroderma pigmentosum, group F [RCV005017637]	uncertain significance	16	13926555	13926555	Human	1	name
597757701	CV3711343	single nucleotide variant	NM_005236.3(ERCC4):c.792+3A>G	Xeroderma pigmentosum, group F [RCV005017639]	uncertain significance	16	13928238	13928238	Human	1	name
597870421	CV3869931	single nucleotide variant	NM_005236.3(ERCC4):c.792+1G>A	Xeroderma pigmentosum, group F [RCV005215661]	likely pathogenic	16	13928236	13928236	Human	1	name
597931121	CV3878544	single nucleotide variant	NM_005236.3(ERCC4):c.792+7T>G	Xeroderma pigmentosum, group F [RCV005224914]	likely benign	16	13928242	13928242	Human	1	name
12890327	CV400521	single nucleotide variant	NM_005236.3(ERCC4):c.389-5C>T	Xeroderma pigmentosum, group F [RCV000474414]\|Xeroderma pigmentosum, group F [RCV003316607]\|not specified [RCV001821351]	benign\|likely benign	16	13926556	13926556	Human	1	name
15102365	CV787989	single nucleotide variant	NM_005236.3(ERCC4):c.208-6A>G	Xeroderma pigmentosum, group F [RCV001503287]	likely benign	16	13922025	13922025	Human	1	name
26912725	CV851649	single nucleotide variant	NM_005236.3(ERCC4):c.389-9C>A	ERCC4-related disorder [RCV003983826]\|Xeroderma pigmentosum, group F [RCV001039603]	likely benign\|uncertain significance	16	13926552	13926552	Human	3	name , trait , alternate_id
26886921	CV852620	single nucleotide variant	NM_005236.3(ERCC4):c.208-3T>C	Xeroderma pigmentosum, group F [RCV001044533]	uncertain significance	16	13922028	13922028	Human	1	name
28876897	CV874650	single nucleotide variant	NM_005236.3(ERCC4):c.*1056A>G	Xeroderma pigmentosum, group F [RCV001116423]\|not provided [RCV004706017]	likely benign	16	13949403	13949403	Human	1	name
28876901	CV874651	single nucleotide variant	NM_005236.3(ERCC4):c.*1256G>C	Xeroderma pigmentosum, group F [RCV001116424]	uncertain significance	16	13949603	13949603	Human	1	name
28881559	CV874652	single nucleotide variant	NM_005236.3(ERCC4):c.*1288G>A	Xeroderma pigmentosum, group F [RCV001117872]	uncertain significance	16	13949635	13949635	Human	1	name
28881564	CV874653	single nucleotide variant	NM_005236.3(ERCC4):c.*1353G>A	Xeroderma pigmentosum, group F [RCV001117873]	likely benign	16	13949700	13949700	Human	1	name
28881569	CV874654	single nucleotide variant	NM_005236.3(ERCC4):c.*1472C>T	Xeroderma pigmentosum, group F [RCV001117874]	benign	16	13949819	13949819	Human	1	name
28881572	CV874655	single nucleotide variant	NM_005236.3(ERCC4):c.*1478T>C	Xeroderma pigmentosum, group F [RCV001117875]	uncertain significance	16	13949825	13949825	Human	1	name
28881578	CV874656	single nucleotide variant	NM_005236.3(ERCC4):c.*1635G>A	Xeroderma pigmentosum, group F [RCV001117876]	uncertain significance	16	13949982	13949982	Human	1	name
28881583	CV874657	single nucleotide variant	NM_005236.3(ERCC4):c.*1676G>A	Xeroderma pigmentosum, group F [RCV001117877]	uncertain significance	16	13950023	13950023	Human	1	name
28886871	CV874658	single nucleotide variant	NM_005236.3(ERCC4):c.*1915A>G	Xeroderma pigmentosum, group F [RCV001119430]	uncertain significance	16	13950262	13950262	Human	1	name
28886869	CV874659	single nucleotide variant	NM_005236.3(ERCC4):c.*1981C>T	Xeroderma pigmentosum, group F [RCV001119431]	uncertain significance	16	13950328	13950328	Human	1	name
28892658	CV874660	single nucleotide variant	NM_005236.3(ERCC4):c.*2072T>G	Xeroderma pigmentosum, group F [RCV001121420]	uncertain significance	16	13950419	13950419	Human	1	name
28892662	CV874661	single nucleotide variant	NM_005236.3(ERCC4):c.*2415A>G	Xeroderma pigmentosum, group F [RCV001121421]	uncertain significance	16	13950762	13950762	Human	1	name
28877276	CV874662	single nucleotide variant	NM_005236.3(ERCC4):c.*2455G>T	Xeroderma pigmentosum, group F [RCV001116526]	uncertain significance	16	13950802	13950802	Human	1	name
28877280	CV874663	single nucleotide variant	NM_005236.3(ERCC4):c.*2463C>G	Xeroderma pigmentosum, group F [RCV001116527]	uncertain significance	16	13950810	13950810	Human	1	name
28877284	CV874664	single nucleotide variant	NM_005236.3(ERCC4):c.*2539A>G	Xeroderma pigmentosum, group F [RCV001116528]	benign	16	13950886	13950886	Human	1	name
28877287	CV874665	single nucleotide variant	NM_005236.3(ERCC4):c.*2572C>G	Xeroderma pigmentosum, group F [RCV001116529]	uncertain significance	16	13950919	13950919	Human	1	name
28881942	CV874666	single nucleotide variant	NM_005236.3(ERCC4):c.*2710C>T	Xeroderma pigmentosum, group F [RCV001117979]	uncertain significance	16	13951057	13951057	Human	1	name
28881946	CV874667	single nucleotide variant	NM_005236.3(ERCC4):c.*2712C>T	Xeroderma pigmentosum, group F [RCV001117980]	uncertain significance	16	13951059	13951059	Human	1	name
28881951	CV874668	single nucleotide variant	NM_005236.3(ERCC4):c.*2744T>A	Xeroderma pigmentosum, group F [RCV001117981]	benign	16	13951091	13951091	Human	1	name
28881955	CV874669	single nucleotide variant	NM_005236.3(ERCC4):c.*2816A>T	Xeroderma pigmentosum, group F [RCV001117982]	likely benign	16	13951163	13951163	Human	1	name
28881962	CV874670	single nucleotide variant	NM_005236.3(ERCC4):c.*2825A>T	Xeroderma pigmentosum, group F [RCV001117983]	uncertain significance	16	13951172	13951172	Human	1	name
28881967	CV874671	single nucleotide variant	NM_005236.3(ERCC4):c.*2849G>A	Xeroderma pigmentosum, group F [RCV001117984]	uncertain significance	16	13951196	13951196	Human	1	name
28887060	CV874672	single nucleotide variant	NM_005236.3(ERCC4):c.*2892C>G	Xeroderma pigmentosum, group F [RCV001119517]	uncertain significance	16	13951239	13951239	Human	1	name
28892936	CV874673	single nucleotide variant	NM_005236.3(ERCC4):c.*3230C>G	Xeroderma pigmentosum, group F [RCV001121518]	uncertain significance	16	13951577	13951577	Human	1	name
28892939	CV874674	single nucleotide variant	NM_005236.3(ERCC4):c.*3282C>G	Xeroderma pigmentosum, group F [RCV001121519]	uncertain significance	16	13951629	13951629	Human	1	name
28892941	CV874675	single nucleotide variant	NM_005236.3(ERCC4):c.*3319G>A	Xeroderma pigmentosum, group F [RCV001121520]	uncertain significance	16	13951666	13951666	Human	1	name
28892944	CV874676	single nucleotide variant	NM_005236.3(ERCC4):c.*3443G>A	Xeroderma pigmentosum, group F [RCV001121521]	uncertain significance	16	13951790	13951790	Human	1	name
28877619	CV874677	single nucleotide variant	NM_005236.3(ERCC4):c.*3727G>T	Xeroderma pigmentosum, group F [RCV001116634]	likely benign	16	13952074	13952074	Human	1	name
28877622	CV874678	single nucleotide variant	NM_005236.3(ERCC4):c.*3911C>T	Xeroderma pigmentosum, group F [RCV001116635]	likely benign	16	13952258	13952258	Human	1	name
28882268	CV874679	single nucleotide variant	NM_005236.3(ERCC4):c.*3965G>A	Xeroderma pigmentosum, group F [RCV001118077]	uncertain significance	16	13952312	13952312	Human	1	name
34889040	CV917875	single nucleotide variant	NM_005236.3(ERCC4):c.584+1G>A	not provided [RCV001194778]	uncertain significance	16	13926757	13926757	Human		name
38467675	CV940343	single nucleotide variant	NM_005236.3(ERCC4):c.793-2A>G	Xeroderma pigmentosum, group F [RCV001212995]	pathogenic	16	13930708	13930708	Human	1	name
42722873	CV985333	single nucleotide variant	NM_005236.3(ERCC4):c.207+5G>C	Fanconi anemia complementation group Q [RCV001292864]	uncertain significance	16	13920377	13920377	Human	1	name
127247681	CV1056287	single nucleotide variant	NM_005236.3(ERCC4):c.1102+1G>T	Xeroderma pigmentosum [RCV003226467]\|Xeroderma pigmentosum, group F [RCV001377820]	likely pathogenic	16	13932286	13932286	Human	2	name
127244923	CV1103505	single nucleotide variant	NM_005236.3(ERCC4):c.1102+7T>A	Xeroderma pigmentosum, group F [RCV001424190]	likely benign	16	13932292	13932292	Human	1	name
127319799	CV1124915	single nucleotide variant	NM_005236.3(ERCC4):c.1214-4T>G	Xeroderma pigmentosum, group F [RCV001466674]	likely benign	16	13935142	13935142	Human	1	name
150338947	CV1167649	single nucleotide variant	NM_005236.3(ERCC4):c.207+49G>A	not provided [RCV001533916]	benign	16	13920421	13920421	Human		name
150425355	CV1185058	single nucleotide variant	NM_005236.3(ERCC4):c.974-72A>G	not provided [RCV001557891]	likely benign	16	13932085	13932085	Human		name
150508353	CV1214022	single nucleotide variant	NM_005236.3(ERCC4):c.793-69G>T	not provided [RCV001596543]	likely benign	16	13930641	13930641	Human		name
150459203	CV1263984	single nucleotide variant	NM_005236.3(ERCC4):c.389-36C>G	not provided [RCV001681899]	benign	16	13926525	13926525	Human		name
150548258	CV1310131	single nucleotide variant	NM_005236.3(ERCC4):c.207+13T>A	Xeroderma pigmentosum, group F [RCV003812667]	likely benign\|uncertain significance	16	13920385	13920385	Human	1	name
150531673	CV1311195	single nucleotide variant	NM_005236.3(ERCC4):c.207+79G>C	not provided [RCV001776930]	likely benign	16	13920451	13920451	Human		name
8688689	CV139273	single nucleotide variant	NM_005236.3(ERCC4):c.2017+1G>A	Xeroderma pigmentosum, group F [RCV005016423]\|not specified [RCV000122394]	likely pathogenic\|not provided	16	13944836	13944836	Human	1	name
151716773	CV1513133	single nucleotide variant	NM_005236.3(ERCC4):c.1905-7C>G	Xeroderma pigmentosum, group F [RCV001890453]	likely benign\|uncertain significance	16	13944716	13944716	Human	1	name
152159015	CV1521853	single nucleotide variant	NM_005236.3(ERCC4):c.793-13A>T	Xeroderma pigmentosum, group F [RCV002180590]	benign	16	13930697	13930697	Human	1	name
152112489	CV1541830	single nucleotide variant	NM_005236.3(ERCC4):c.388+13A>G	Xeroderma pigmentosum, group F [RCV002116735]	likely benign	16	13922224	13922224	Human	1	name
152116642	CV1553481	single nucleotide variant	NM_005236.3(ERCC4):c.974-17T>C	Xeroderma pigmentosum, group F [RCV002080983]	likely benign	16	13932140	13932140	Human	1	name
152105376	CV1559906	single nucleotide variant	NM_005236.3(ERCC4):c.1811+9T>G	Xeroderma pigmentosum, group F [RCV002133782]	likely benign	16	13935752	13935752	Human	1	name
152086255	CV1599450	single nucleotide variant	NM_005236.3(ERCC4):c.793-17T>C	Xeroderma pigmentosum, group F [RCV002093525]	likely benign	16	13930693	13930693	Human	1	name
152168679	CV1626309	single nucleotide variant	NM_005236.3(ERCC4):c.207+13T>C	Xeroderma pigmentosum, group F [RCV002182530]	likely benign	16	13920385	13920385	Human	1	name
153002325	CV1685319	single nucleotide variant	NM_005236.3(ERCC4):c.1905-6C>G	Xeroderma pigmentosum [RCV002258698]	uncertain significance	16	13944717	13944717	Human	1	name
153002528	CV1685320	single nucleotide variant	NM_005236.3(ERCC4):c.2017+1G>C	Xeroderma pigmentosum [RCV002259275]	likely pathogenic	16	13944836	13944836	Human	1	name
156414097	CV1915701	single nucleotide variant	NM_005236.3(ERCC4):c.1213+8A>G	Xeroderma pigmentosum, group F [RCV002588409]	likely benign	16	13934310	13934310	Human	1	name
156288513	CV1964769	single nucleotide variant	NM_005236.3(ERCC4):c.973+20A>G	Xeroderma pigmentosum, group F [RCV002577736]	likely benign	16	13930910	13930910	Human	1	name
156374747	CV2049214	single nucleotide variant	NM_005236.3(ERCC4):c.207+16C>G	Xeroderma pigmentosum, group F [RCV002814598]	likely benign	16	13920388	13920388	Human	1	name
155990409	CV2066776	single nucleotide variant	NM_005236.3(ERCC4):c.973+17C>T	Xeroderma pigmentosum, group F [RCV002842935]	likely benign	16	13930907	13930907	Human	1	name
243056500	CV2418791	single nucleotide variant	NM_005236.3(ERCC4):c.1214-1G>A	Xeroderma pigmentosum [RCV003155758]	likely pathogenic	16	13935145	13935145	Human	1	name
11549548	CV255454	single nucleotide variant	NM_005236.3(ERCC4):c.207+11G>A	Fanconi anemia complementation group Q [RCV001660280]\|XFE progeroid syndrome [RCV001660279]\|Xeroderma pigmentosum, group F [RCV000342604]\|Xeroderma pigmentosum, group F [RCV002058182]\|not provided [RCV001711702]\|not specified [RCV000250561]	benign	16	13920383	13920383	Human	3	name
401798317	CV2741421	single nucleotide variant	NM_005236.3(ERCC4):c.1811+2C>A	not provided [RCV003322582]	not provided	16	13935745	13935745	Human		name
404998556	CV3085846	single nucleotide variant	NM_005236.3(ERCC4):c.1904+7C>T	Xeroderma pigmentosum, group F [RCV003783216]	likely benign	16	13937865	13937865	Human	1	name
405000034	CV3085974	single nucleotide variant	NM_005236.3(ERCC4):c.207+19G>T	Xeroderma pigmentosum, group F [RCV003783345]	likely benign	16	13920391	13920391	Human	1	name
405020287	CV3088000	single nucleotide variant	NM_005236.3(ERCC4):c.793-18A>G	Xeroderma pigmentosum, group F [RCV003795560]	likely benign	16	13930692	13930692	Human	1	name
404995592	CV3088440	single nucleotide variant	NM_005236.3(ERCC4):c.1812-6A>G	Xeroderma pigmentosum, group F [RCV003793217]	likely benign	16	13937760	13937760	Human	1	name
402517688	CV3089949	single nucleotide variant	NM_005236.3(ERCC4):c.388+15T>C	Xeroderma pigmentosum, group F [RCV003780827]	likely benign	16	13922226	13922226	Human	1	name
405036593	CV3093275	single nucleotide variant	NM_005236.3(ERCC4):c.585-18A>C	Xeroderma pigmentosum, group F [RCV003786627]	likely benign	16	13928010	13928010	Human	1	name
402488021	CV3094195	single nucleotide variant	NM_005236.3(ERCC4):c.1811+9T>A	Xeroderma pigmentosum, group F [RCV003787237]	likely benign	16	13935752	13935752	Human	1	name
405051121	CV3097848	single nucleotide variant	NM_005236.3(ERCC4):c.1905-4A>G	Xeroderma pigmentosum, group F [RCV003808261]	likely benign	16	13944719	13944719	Human	1	name
405027946	CV3098130	single nucleotide variant	NM_005236.3(ERCC4):c.1214-8A>G	Xeroderma pigmentosum, group F [RCV003806423]	likely benign	16	13935138	13935138	Human	1	name
405025911	CV3101861	single nucleotide variant	NM_005236.3(ERCC4):c.208-19C>G	Xeroderma pigmentosum, group F [RCV003806267]	likely benign	16	13922012	13922012	Human	1	name
597839152	CV3867651	single nucleotide variant	NM_005236.3(ERCC4):c.388+18T>C	Xeroderma pigmentosum, group F [RCV005210846]	likely benign	16	13922229	13922229	Human	1	name
597853599	CV3873797	single nucleotide variant	NM_005236.3(ERCC4):c.584+14T>G	Xeroderma pigmentosum, group F [RCV005228582]	likely benign	16	13926770	13926770	Human	1	name
597837286	CV3874604	single nucleotide variant	NM_005236.3(ERCC4):c.585-14A>G	Xeroderma pigmentosum, group F [RCV005210525]	likely benign	16	13928014	13928014	Human	1	name
597863468	CV3875407	single nucleotide variant	NM_005236.3(ERCC4):c.585-10G>A	Xeroderma pigmentosum, group F [RCV005214584]	likely benign	16	13928018	13928018	Human	1	name
13623773	CV529444	single nucleotide variant	NM_005236.3(ERCC4):c.1812-5T>C	ERCC4-related disorder [RCV003965394]\|Fanconi anemia complementation group Q [RCV001788310]\|Inborn genetic diseases [RCV002531975]\|Xeroderma pigmentosum [RCV002257913]\|Xeroderma pigmentosum, group F [RCV000651479]\|Xeroderma pigmentosum, group F [RCV000989534]\|no ... (more) t provided [RCV005231238]	benign\|likely benign\|uncertain significance	16	13937761	13937761	Human	5	name , trait , alternate_id
28891848	CV876612	single nucleotide variant	NM_005236.3(ERCC4):c.973+11A>T	Xeroderma pigmentosum, group F [RCV001121129]\|Xeroderma pigmentosum, group F [RCV002069968]\|not provided [RCV003238307]\|not specified [RCV001819831]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	16	13930901	13930901	Human	1	name
38457056	CV960834	single nucleotide variant	NM_005236.3(ERCC4):c.2017+3G>A	Xeroderma pigmentosum, group F [RCV001245969]	uncertain significance	16	13944838	13944838	Human	1	name
150462873	CV1206650	single nucleotide variant	NM_005236.3(ERCC4):c.389-206C>T	not provided [RCV001587051]	likely benign	16	13926355	13926355	Human		name
150516252	CV1216492	single nucleotide variant	NM_005236.3(ERCC4):c.389-200G>A	not provided [RCV001608683]	benign	16	13926361	13926361	Human		name
150454208	CV1219941	single nucleotide variant	NM_005236.3(ERCC4):c.1103-90T>C	not provided [RCV001612323]	benign	16	13934102	13934102	Human		name
150435421	CV1220787	single nucleotide variant	NM_005236.3(ERCC4):c.1905-28G>A	Fanconi anemia complementation group Q [RCV001658329]\|XFE progeroid syndrome [RCV001658327]\|Xeroderma pigmentosum, group F [RCV001658328]\|not provided [RCV001611881]	benign	16	13944695	13944695	Human	3	name
150435452	CV1221642	single nucleotide variant	NM_005236.3(ERCC4):c.974-122C>A	not provided [RCV001609330]	benign	16	13932035	13932035	Human		name
150517356	CV1226805	single nucleotide variant	NM_005236.3(ERCC4):c.208-311C>G	not provided [RCV001639899]	benign	16	13921720	13921720	Human		name
150496717	CV1245324	single nucleotide variant	NM_005236.3(ERCC4):c.1905-35T>C	Fanconi anemia complementation group Q [RCV001661295]\|XFE progeroid syndrome [RCV001661293]\|Xeroderma pigmentosum, group F [RCV001661294]\|not provided [RCV001676070]	benign	16	13944688	13944688	Human	3	name
150483944	CV1263076	single nucleotide variant	NM_005236.3(ERCC4):c.974-303T>G	not provided [RCV001686476]	benign	16	13931854	13931854	Human		name
150446289	CV1278293	single nucleotide variant	NM_005236.3(ERCC4):c.793-160C>T	not provided [RCV001707436]	benign	16	13930550	13930550	Human		name
152086055	CV1633656	single nucleotide variant	NM_005236.3(ERCC4):c.2018-18C>G	Xeroderma pigmentosum, group F [RCV002113402]	likely benign	16	13947596	13947596	Human	1	name
152074823	CV1647598	single nucleotide variant	NM_005236.3(ERCC4):c.1214-19T>C	Xeroderma pigmentosum, group F [RCV002210454]	likely benign	16	13935127	13935127	Human	1	name
152058086	CV1656637	single nucleotide variant	NM_005236.3(ERCC4):c.1812-17T>C	Xeroderma pigmentosum, group F [RCV002109787]	likely benign	16	13937749	13937749	Human	1	name
156213823	CV1869145	single nucleotide variant	NM_005236.3(ERCC4):c.2018-19A>T	Xeroderma pigmentosum, group F [RCV003058636]	likely benign	16	13947595	13947595	Human	1	name
156438618	CV1947228	single nucleotide variant	NM_005236.3(ERCC4):c.1102+20C>T	Xeroderma pigmentosum, group F [RCV003108563]	likely benign	16	13932305	13932305	Human	1	name
156064482	CV2065518	deletion	NM_005236.3(ERCC4):c.2017+19del	Xeroderma pigmentosum, group F [RCV002846882]	likely benign	16	13944854	13944854	Human	1	name
156157038	CV2096689	single nucleotide variant	NM_005236.3(ERCC4):c.1905-20G>C	Xeroderma pigmentosum, group F [RCV002872519]	likely benign	16	13944703	13944703	Human	1	name
155956974	CV2141832	single nucleotide variant	NM_005236.3(ERCC4):c.1214-10C>A	Xeroderma pigmentosum, group F [RCV002972177]	likely benign	16	13935136	13935136	Human	1	name
404996095	CV3088485	single nucleotide variant	NM_005236.3(ERCC4):c.1102+14T>C	Xeroderma pigmentosum, group F [RCV003793262]	likely benign	16	13932299	13932299	Human	1	name
402497570	CV3092766	duplication	NM_005236.3(ERCC4):c.1213+11dup	Xeroderma pigmentosum, group F [RCV003788229]	benign	16	13934307	13934308	Human	1	name
405035405	CV3093147	single nucleotide variant	NM_005236.3(ERCC4):c.1811+16T>C	Xeroderma pigmentosum, group F [RCV003786498]	likely benign	16	13935759	13935759	Human	1	name
11612587	CV333731	single nucleotide variant	NM_005236.3(ERCC4):c.1102+13G>T	Xeroderma pigmentosum, group F [RCV000260868]\|Xeroderma pigmentosum, group F [RCV002061191]	likely benign\|uncertain significance	16	13932298	13932298	Human	1	name
405854298	CV3393865	single nucleotide variant	NM_005236.3(ERCC4):c.389-376C>T	not provided [RCV004547091]	likely benign	16	13926185	13926185	Human		name
408379637	CV3501056	single nucleotide variant	NM_005236.3(ERCC4):c.389-330G>A	not provided [RCV004722706]	uncertain significance	16	13926231	13926231	Human		name
596947045	CV3547107	single nucleotide variant	NM_005236.3(ERCC4):c.1102+45A>G	not provided [RCV004810914]	benign	16	13932330	13932330	Human		name
597862916	CV3875295	single nucleotide variant	NM_005236.3(ERCC4):c.1213+18G>A	Xeroderma pigmentosum, group F [RCV005214472]	likely benign	16	13934320	13934320	Human	1	name
597843884	CV3877667	single nucleotide variant	NM_005236.3(ERCC4):c.2018-20T>C	Xeroderma pigmentosum, group F [RCV005227018]	likely benign	16	13947594	13947594	Human	1	name
597913538	CV3880005	single nucleotide variant	NM_005236.3(ERCC4):c.1905-20G>A	Xeroderma pigmentosum, group F [RCV005222244]	likely benign	16	13944703	13944703	Human	1	name
15161594	CV744883	single nucleotide variant	NM_005236.3(ERCC4):c.1811+10A>G	not provided [RCV000903378]	likely benign	16	13935753	13935753	Human		name
21072816	CV791522	duplication	NM_005236.3(ERCC4):c.1102+36dup	Xeroderma pigmentosum, group F [RCV000989532]	likely benign	16	13932315	13932316	Human	1	name
150340349	CV1168347	single nucleotide variant	NM_005236.3(ERCC4):c.1213+220G>A	not provided [RCV001535270]	benign	16	13934522	13934522	Human		name
150424662	CV1185059	single nucleotide variant	NM_005236.3(ERCC4):c.1213+214G>A	not provided [RCV001556957]	likely benign	16	13934516	13934516	Human		name
150411383	CV1191755	single nucleotide variant	NM_005236.3(ERCC4):c.1905-140A>T	not provided [RCV001566544]	likely benign	16	13944583	13944583	Human		name
150471772	CV1209615	single nucleotide variant	NM_005236.3(ERCC4):c.1904+190G>A	not provided [RCV001588726]	likely benign	16	13938048	13938048	Human		name
150514799	CV1217278	single nucleotide variant	NM_005236.3(ERCC4):c.1905-241T>C	not provided [RCV001608182]	benign	16	13944482	13944482	Human		name
150435695	CV1221716	single nucleotide variant	NM_005236.3(ERCC4):c.1102+237C>G	not provided [RCV001609405]	benign	16	13932522	13932522	Human		name
150507224	CV1226538	single nucleotide variant	NM_005236.3(ERCC4):c.1103-311C>G	not provided [RCV001635906]	benign	16	13933881	13933881	Human		name
150509260	CV1247262	single nucleotide variant	NM_005236.3(ERCC4):c.1812-103G>A	not provided [RCV001659289]	benign	16	13937663	13937663	Human		name
150493613	CV1257591	single nucleotide variant	NM_005236.3(ERCC4):c.1102+219G>A	not provided [RCV001675264]	benign	16	13932504	13932504	Human		name
150481248	CV1258883	single nucleotide variant	NM_005236.3(ERCC4):c.1904+156A>C	not provided [RCV001686013]	benign	16	13938014	13938014	Human		name
150486680	CV1262614	single nucleotide variant	NM_005236.3(ERCC4):c.1811+234G>A	not provided [RCV001687011]	benign	16	13935977	13935977	Human		name
150455977	CV1269013	single nucleotide variant	NM_005236.3(ERCC4):c.1102+307G>A	not provided [RCV001692837]	benign	16	13932592	13932592	Human		name
150456349	CV1269065	single nucleotide variant	NM_005236.3(ERCC4):c.1103-317C>T	not provided [RCV001692889]	benign	16	13933875	13933875	Human		name
150487621	CV1283861	single nucleotide variant	NM_005236.3(ERCC4):c.2017+223G>A	not provided [RCV001715982]	benign	16	13945058	13945058	Human		name
26917318	CV851651	deletion	NM_005236.3(ERCC4):c.580_584+1del	Xeroderma pigmentosum, group F [RCV001042569]\|Xeroderma pigmentosum, group F [RCV005021359]\|not provided [RCV001531225]\|not specified [RCV001819754]	likely pathogenic\|uncertain significance	16	13926750	13926755	Human	1	name
405028445	CV3082506	single nucleotide variant	NM_005236.3(ERCC4):c.9A>C (p.Ser3=)	Xeroderma pigmentosum, group F [RCV003785957]	likely benign	16	13920174	13920174	Human	1	name
597757752	CV3711354	deletion	NM_005236.3(ERCC4):c.1905-8_1909del	Xeroderma pigmentosum, group F [RCV005017650]	likely pathogenic	16	13944715	13944727	Human	1	name
12887147	CV400524	inversion	NM_005236.3(ERCC4):c.974-7_974-6inv	Xeroderma pigmentosum, group F [RCV001517902]	benign	16	13932150	13932151	Human		name
127324776	CV1145787	single nucleotide variant	NM_005236.3(ERCC4):c.15G>A (p.Gln5=)	Xeroderma pigmentosum, group F [RCV001485566]	likely benign	16	13920180	13920180	Human	1	name
152099330	CV1627235	single nucleotide variant	NM_005236.3(ERCC4):c.22C>A (p.Arg8=)	Xeroderma pigmentosum, group F [RCV002095302]	likely benign	16	13920187	13920187	Human	1	name
597902407	CV3873071	duplication	NM_005236.3(ERCC4):c.1892_1904+41dup	Xeroderma pigmentosum, group F [RCV005220509]	uncertain significance	16	13937842	13937843	Human	1	name
28891533	CV874633	single nucleotide variant	NM_005236.3(ERCC4):c.12G>A (p.Gly4=)	Xeroderma pigmentosum, group F [RCV001121018]	uncertain significance	16	13920177	13920177	Human	1	name
127230741	CV1081674	single nucleotide variant	NM_005236.3(ERCC4):c.42G>A (p.Pro14=)	Xeroderma pigmentosum, group F [RCV001412669]	likely benign	16	13920207	13920207	Human	1	name
150556876	CV1307571	single nucleotide variant	NM_005236.3(ERCC4):c.2T>C (p.Met1Thr)	not provided [RCV001774849]	uncertain significance	16	13920167	13920167	Human		name
152138486	CV1549533	single nucleotide variant	NM_005236.3(ERCC4):c.69G>A (p.Val23=)	Xeroderma pigmentosum, group F [RCV002156447]	likely benign	16	13920234	13920234	Human	1	name
152073706	CV1657609	deletion	NM_005236.3(ERCC4):c.974-20_974-16del	Xeroderma pigmentosum, group F [RCV002210313]	likely benign	16	13932133	13932137	Human	1	name
156201259	CV2110059	single nucleotide variant	NM_005236.3(ERCC4):c.2T>G (p.Met1Arg)	Xeroderma pigmentosum, group F [RCV002957387]	uncertain significance	16	13920167	13920167	Human	1	name
155958956	CV2138185	single nucleotide variant	NM_005236.3(ERCC4):c.96A>G (p.Leu32=)	Xeroderma pigmentosum, group F [RCV002972285]	likely benign	16	13920261	13920261	Human	1	name
243054387	CV2418594	single nucleotide variant	NM_005236.3(ERCC4):c.1A>G (p.Met1Val)	Fanconi anemia complementation group Q [RCV003154575]	uncertain significance	16	13920166	13920166	Human	1	name
11349860	CV242189	single nucleotide variant	NM_005236.3(ERCC4):c.33C>T (p.Ala11=)	Xeroderma pigmentosum, group F [RCV000232260]\|Xeroderma pigmentosum, group F [RCV001121019]\|not provided [RCV001565313]\|not specified [RCV000251617]	benign\|likely benign	16	13920198	13920198	Human	1	name
11641764	CV275330	single nucleotide variant	NM_005236.3(ERCC4):c.8C>T (p.Ser3Leu)	Xeroderma pigmentosum, group F [RCV003765689]\|not provided [RCV000362531]	uncertain significance	16	13920173	13920173	Human	1	name
402524217	CV3086718	single nucleotide variant	NM_005236.3(ERCC4):c.81C>T (p.Leu27=)	Xeroderma pigmentosum, group F [RCV003781335]	likely benign	16	13920246	13920246	Human	1	name
402513271	CV3089426	single nucleotide variant	NM_005236.3(ERCC4):c.43C>T (p.Leu15=)	Xeroderma pigmentosum, group F [RCV003780459]	likely benign	16	13920208	13920208	Human	1	name
404979781	CV3099477	microsatellite	NM_005236.3(ERCC4):c.388+20_388+25del	Xeroderma pigmentosum, group F [RCV003791305]	likely benign	16	13922228	13922233	Human		name
597921350	CV3865740	single nucleotide variant	NM_005236.3(ERCC4):c.3G>A (p.Met1Ile)	Xeroderma pigmentosum, group F [RCV005223546]	uncertain significance	16	13920168	13920168	Human	1	name
38483914	CV927558	single nucleotide variant	NM_005236.3(ERCC4):c.4G>C (p.Glu2Gln)	Xeroderma pigmentosum, group F [RCV001219171]	uncertain significance	16	13920169	13920169	Human	1	name
127269183	CV1063505	single nucleotide variant	NM_005236.3(ERCC4):c.22C>T (p.Arg8Ter)	Xeroderma pigmentosum, group F [RCV001389442]	pathogenic	16	13920187	13920187	Human	1	name
127235021	CV1103502	single nucleotide variant	NM_005236.3(ERCC4):c.132C>T (p.Leu44=)	Xeroderma pigmentosum, group F [RCV001433010]	likely benign	16	13920297	13920297	Human	1	name
8687418	CV137870	single nucleotide variant	NM_005236.3(ERCC4):c.16C>T (p.Pro6Ser)	Fanconi anemia complementation group Q [RCV001292633]\|Inborn genetic diseases [RCV004019681]\|Xeroderma pigmentosum [RCV002257426]\|Xeroderma pigmentosum, group F [RCV000475143]\|Xeroderma pigmentosum, group F [RCV000989531]\|Xeroderma pigmentosum, group F [RCV002477311]\|not provided [RCV000734582]\|not ... (more) specified [RCV000120803]	uncertain significance\|not provided	16	13920181	13920181	Human	4	name
152155440	CV1520301	single nucleotide variant	NM_005236.3(ERCC4):c.183G>A (p.Val61=)	Xeroderma pigmentosum, group F [RCV002140107]	likely benign	16	13920348	13920348	Human	1	name
152153995	CV1592178	single nucleotide variant	NM_005236.3(ERCC4):c.178C>T (p.Leu60=)	Xeroderma pigmentosum, group F [RCV002102669]	likely benign	16	13920343	13920343	Human	1	name
156289763	CV1881729	deletion	NM_005236.3(ERCC4):c.68del (p.Val23fs)	Xeroderma pigmentosum, group F [RCV003061403]	pathogenic	16	13920233	13920233	Human	1	name
156265036	CV1902943	single nucleotide variant	NM_005236.3(ERCC4):c.114G>A (p.Gly38=)	Xeroderma pigmentosum, group F [RCV003086579]	likely benign	16	13920279	13920279	Human	1	name
156342037	CV1998255	single nucleotide variant	NM_005236.3(ERCC4):c.25C>G (p.Arg9Gly)	Xeroderma pigmentosum, group F [RCV002650366]	uncertain significance	16	13920190	13920190	Human	1	name
155981833	CV2157378	single nucleotide variant	NM_005236.3(ERCC4):c.20C>T (p.Ala7Val)	Xeroderma pigmentosum, group F [RCV003016417]	uncertain significance	16	13920185	13920185	Human	1	name
11347343	CV242190	single nucleotide variant	NM_005236.3(ERCC4):c.252C>T (p.Leu84=)	Xeroderma pigmentosum, group F [RCV000231873]\|Xeroderma pigmentosum, group F [RCV000401388]\|not provided [RCV001618353]\|not specified [RCV000247899]	benign\|likely benign	16	13922075	13922075	Human	1	name
404978386	CV3099017	single nucleotide variant	NM_005236.3(ERCC4):c.129G>A (p.Arg43=)	Xeroderma pigmentosum, group F [RCV003790997]	likely benign	16	13920294	13920294	Human	1	name
405168520	CV3104126	single nucleotide variant	NM_005236.3(ERCC4):c.165A>G (p.Pro55=)	Xeroderma pigmentosum, group F [RCV003802803]	likely benign	16	13920330	13920330	Human	1	name
405157531	CV3109428	single nucleotide variant	NM_005236.3(ERCC4):c.147C>T (p.Leu49=)	Xeroderma pigmentosum, group F [RCV003801952]	likely benign	16	13920312	13920312	Human	1	name
11601758	CV324109	single nucleotide variant	NM_005236.3(ERCC4):c.105C>T (p.Cys35=)	Xeroderma pigmentosum, group F [RCV000285190]\|Xeroderma pigmentosum, group F [RCV002061190]	likely benign\|uncertain significance	16	13920270	13920270	Human	1	name
597838171	CV3871008	single nucleotide variant	NM_005236.3(ERCC4):c.294T>C (p.Tyr98=)	Xeroderma pigmentosum, group F [RCV005210667]	likely benign	16	13922117	13922117	Human	1	name
597842342	CV3878261	single nucleotide variant	NM_005236.3(ERCC4):c.117C>T (p.Leu39=)	Xeroderma pigmentosum, group F [RCV005226750]	likely benign	16	13920282	13920282	Human	1	name
597913463	CV3879994	single nucleotide variant	NM_005236.3(ERCC4):c.225G>A (p.Gln75=)	Xeroderma pigmentosum, group F [RCV005222233]	likely benign	16	13922048	13922048	Human	1	name
13496353	CV465041	single nucleotide variant	NM_005236.3(ERCC4):c.228G>A (p.Leu76=)	ERCC4-related disorder [RCV003900232]\|Xeroderma pigmentosum [RCV002257838]\|Xeroderma pigmentosum, group F [RCV000560297]\|Xeroderma pigmentosum, group F [RCV001116102]	likely benign\|uncertain significance	16	13922051	13922051	Human	4	name , trait , alternate_id
13811459	CV573713	single nucleotide variant	NM_005236.3(ERCC4):c.19G>A (p.Ala7Thr)	Inborn genetic diseases [RCV004972857]\|Xeroderma pigmentosum, group F [RCV000688763]	uncertain significance	16	13920184	13920184	Human	2	name
26919679	CV843092	single nucleotide variant	NM_005236.3(ERCC4):c.26G>C (p.Arg9Pro)	Xeroderma pigmentosum, group F [RCV001059205]	uncertain significance	16	13920191	13920191	Human	1	name
126730272	CV986068	single nucleotide variant	NM_005236.3(ERCC4):c.17C>T (p.Pro6Leu)	Fanconi anemia complementation group Q [RCV001294107]	uncertain significance	16	13920182	13920182	Human	1	name
127256132	CV1103503	single nucleotide variant	NM_005236.3(ERCC4):c.537A>G (p.Glu179=)	Xeroderma pigmentosum [RCV002258256]\|Xeroderma pigmentosum, group F [RCV001437611]\|not specified [RCV001820131]	likely benign\|uncertain significance	16	13926709	13926709	Human	2	name
127274630	CV1103504	single nucleotide variant	NM_005236.3(ERCC4):c.816T>A (p.Pro272=)	Xeroderma pigmentosum, group F [RCV001432018]	likely benign	16	13930733	13930733	Human	1	name
150548250	CV1310125	single nucleotide variant	NM_005236.3(ERCC4):c.37G>A (p.Ala13Thr)	Behavioral variant of frontotemporal dementia [RCV002508160]\|Xeroderma pigmentosum, group F [RCV002541036]\|not provided [RCV003238123]	uncertain significance	16	13920202	13920202	Human	3	name
151355166	CV1328233	single nucleotide variant	NM_005236.3(ERCC4):c.86C>T (p.Thr29Ile)	not specified [RCV001820238]	uncertain significance	16	13920251	13920251	Human		name
151355338	CV1328405	single nucleotide variant	NM_005236.3(ERCC4):c.576G>C (p.Leu192=)	Xeroderma pigmentosum, group F [RCV002074332]\|not specified [RCV001820410]	likely benign\|uncertain significance	16	13926748	13926748	Human	1	name
8687419	CV137871	single nucleotide variant	NM_005236.3(ERCC4):c.79C>T (p.Leu27Phe)	ERCC4-related disorder [RCV004751273]\|Xeroderma pigmentosum [RCV002257427]\|Xeroderma pigmentosum, group F [RCV000372597]\|Xeroderma pigmentosum, group F [RCV001340956]\|Xeroderma pigmentosum, group F [RCV002477312]\|not specified [RCV000120804]	uncertain significance\|not provided	16	13920244	13920244	Human	5	name , trait , alternate_id
151885442	CV1431954	single nucleotide variant	NM_005236.3(ERCC4):c.58C>T (p.Arg20Ter)	Xeroderma pigmentosum, group F [RCV002037756]	pathogenic	16	13920223	13920223	Human	1	name
151714984	CV1492786	single nucleotide variant	NM_005236.3(ERCC4):c.540A>G (p.Arg180=)	Xeroderma pigmentosum, group F [RCV001890148]	likely benign	16	13926712	13926712	Human	1	name
152071922	CV1552220	single nucleotide variant	NM_005236.3(ERCC4):c.948G>A (p.Thr316=)	Xeroderma pigmentosum, group F [RCV002148199]	likely benign	16	13930865	13930865	Human	1	name
152026733	CV1583065	single nucleotide variant	NM_005236.3(ERCC4):c.555T>C (p.Leu185=)	Xeroderma pigmentosum, group F [RCV002084896]	likely benign	16	13926727	13926727	Human	1	name
152077166	CV1592159	single nucleotide variant	NM_005236.3(ERCC4):c.705A>G (p.Ala235=)	Xeroderma pigmentosum, group F [RCV002112262]	likely benign	16	13928148	13928148	Human	1	name
152132347	CV1630090	single nucleotide variant	NM_005236.3(ERCC4):c.837C>G (p.Ala279=)	Xeroderma pigmentosum, group F [RCV002176967]\|not provided [RCV004809744]	likely benign	16	13930754	13930754	Human	1	name
153002329	CV1685325	single nucleotide variant	NM_005236.3(ERCC4):c.975T>G (p.Gly325=)	Xeroderma pigmentosum [RCV002258701]	likely benign	16	13932158	13932158	Human	1	name
153002330	CV1685326	single nucleotide variant	NM_005236.3(ERCC4):c.979C>T (p.Leu327=)	Xeroderma pigmentosum [RCV002258702]	uncertain significance	16	13932162	13932162	Human	1	name
153002331	CV1685327	single nucleotide variant	NM_005236.3(ERCC4):c.98T>C (p.Val33Ala)	Xeroderma pigmentosum [RCV002258703]\|Xeroderma pigmentosum, group F [RCV005225585]	uncertain significance	16	13920263	13920263	Human	2	name
156318827	CV1876189	single nucleotide variant	NM_005236.3(ERCC4):c.34A>G (p.Met12Val)	Inborn genetic diseases [RCV005333457]\|Xeroderma pigmentosum, group F [RCV003062927]\|Xeroderma pigmentosum, group F [RCV005019613]	uncertain significance	16	13920199	13920199	Human	2	name
156416679	CV1901710	single nucleotide variant	NM_005236.3(ERCC4):c.871T>C (p.Leu291=)	Xeroderma pigmentosum, group F [RCV002610305]	likely benign	16	13930788	13930788	Human	1	name
156170067	CV2016095	single nucleotide variant	NM_005236.3(ERCC4):c.981G>A (p.Leu327=)	Xeroderma pigmentosum, group F [RCV002710458]	likely benign	16	13932164	13932164	Human	1	name
156217481	CV2047688	single nucleotide variant	NM_005236.3(ERCC4):c.327G>A (p.Ala109=)	Xeroderma pigmentosum, group F [RCV002790499]	likely benign	16	13922150	13922150	Human	1	name
156194794	CV2322187	single nucleotide variant	NM_005236.3(ERCC4):c.91G>C (p.Gly31Arg)	Inborn genetic diseases [RCV002931210]	uncertain significance	16	13920256	13920256	Human	1	name
11350677	CV237132	single nucleotide variant	NM_005236.3(ERCC4):c.89A>C (p.Asp30Ala)	not provided [RCV000224195]	uncertain significance	16	13920254	13920254	Human		name
401938556	CV2807653	single nucleotide variant	NM_005236.3(ERCC4):c.850T>C (p.Leu284=)	not provided [RCV003417653]	likely benign	16	13930767	13930767	Human		name
405025410	CV3082088	single nucleotide variant	NM_005236.3(ERCC4):c.402T>C (p.Tyr134=)	Xeroderma pigmentosum, group F [RCV003785694]	likely benign	16	13926574	13926574	Human	1	name
405024460	CV3085054	single nucleotide variant	NM_005236.3(ERCC4):c.355T>C (p.Leu119=)	Xeroderma pigmentosum, group F [RCV003795920]	likely benign	16	13922178	13922178	Human	1	name
404984635	CV3087285	single nucleotide variant	NM_005236.3(ERCC4):c.306A>G (p.Thr102=)	Xeroderma pigmentosum, group F [RCV003781748]	likely benign	16	13922129	13922129	Human	1	name
404993244	CV3089030	single nucleotide variant	NM_005236.3(ERCC4):c.711A>G (p.Leu237=)	Xeroderma pigmentosum, group F [RCV003782676]	likely benign	16	13928154	13928154	Human	1	name
402511479	CV3089286	single nucleotide variant	NM_005236.3(ERCC4):c.591T>C (p.His197=)	Xeroderma pigmentosum, group F [RCV003780318]	likely benign	16	13928034	13928034	Human	1	name
402495596	CV3092430	single nucleotide variant	NM_005236.3(ERCC4):c.83A>G (p.Asp28Gly)	Xeroderma pigmentosum, group F [RCV003788050]	uncertain significance	16	13920248	13920248	Human	1	name
402501692	CV3093377	single nucleotide variant	NM_005236.3(ERCC4):c.363T>C (p.Asp121=)	Xeroderma pigmentosum, group F [RCV003788683]	likely benign	16	13922186	13922186	Human	1	name
405001167	CV3095460	single nucleotide variant	NM_005236.3(ERCC4):c.303C>T (p.Tyr101=)	Xeroderma pigmentosum, group F [RCV003793763]	likely benign	16	13922126	13922126	Human	1	name
405024186	CV3097662	single nucleotide variant	NM_005236.3(ERCC4):c.681T>G (p.Thr227=)	Xeroderma pigmentosum, group F [RCV003806123]	likely benign	16	13928124	13928124	Human	1	name
405033519	CV3098740	single nucleotide variant	NM_005236.3(ERCC4):c.90C>G (p.Asp30Glu)	Xeroderma pigmentosum, group F [RCV003806866]	uncertain significance	16	13920255	13920255	Human	1	name
405041803	CV3103645	single nucleotide variant	NM_005236.3(ERCC4):c.846A>G (p.Lys282=)	Xeroderma pigmentosum, group F [RCV003797363]	likely benign	16	13930763	13930763	Human	1	name
405043812	CV3103799	single nucleotide variant	NM_005236.3(ERCC4):c.412A>C (p.Arg138=)	Xeroderma pigmentosum, group F [RCV003797517]	likely benign	16	13926584	13926584	Human	1	name
405172883	CV3104699	single nucleotide variant	NM_005236.3(ERCC4):c.336G>A (p.Arg112=)	Xeroderma pigmentosum, group F [RCV003803197]	likely benign	16	13922159	13922159	Human	1	name
405080747	CV3107344	single nucleotide variant	NM_005236.3(ERCC4):c.73G>C (p.Glu25Gln)	Xeroderma pigmentosum, group F [RCV003800214]	uncertain significance	16	13920238	13920238	Human	1	name
405077509	CV3109732	single nucleotide variant	NM_005236.3(ERCC4):c.381A>G (p.Leu127=)	Xeroderma pigmentosum, group F [RCV003810139]	likely benign	16	13922204	13922204	Human	1	name
405110942	CV3110725	single nucleotide variant	NM_005236.3(ERCC4):c.561G>A (p.Val187=)	Xeroderma pigmentosum, group F [RCV003813628]	likely benign	16	13926733	13926733	Human	1	name
405292487	CV3196436	single nucleotide variant	NM_005236.3(ERCC4):c.384T>C (p.Ile128=)	ERCC4-related disorder [RCV003964535]	likely benign	16	13922207	13922207	Human		name , trait , alternate_id
405262508	CV3200435	single nucleotide variant	NM_005236.3(ERCC4):c.426T>A (p.Ser142=)	ERCC4-related disorder [RCV003967329]\|Xeroderma pigmentosum, group F [RCV005216160]	likely benign	16	13926598	13926598	Human	3	name , trait , alternate_id
405704777	CV3225144	single nucleotide variant	NM_005236.3(ERCC4):c.55G>A (p.Glu19Lys)	XFE progeroid syndrome [RCV003990100]	uncertain significance	16	13920220	13920220	Human	1	name
11660468	CV324117	single nucleotide variant	NM_005236.3(ERCC4):c.891T>C (p.Tyr297=)	Xeroderma pigmentosum, group F [RCV000367452]	uncertain significance	16	13930808	13930808	Human	1	name
11654084	CV333730	single nucleotide variant	NM_005236.3(ERCC4):c.840G>A (p.Lys280=)	Xeroderma pigmentosum, group F [RCV000315093]\|Xeroderma pigmentosum, group F [RCV002522811]	likely benign\|uncertain significance	16	13930757	13930757	Human	1	name
11620277	CV340484	single nucleotide variant	NM_005236.3(ERCC4):c.61C>G (p.Gln21Glu)	Fanconi anemia complementation group Q [RCV004786664]\|Xeroderma pigmentosum, group F [RCV000334401]\|Xeroderma pigmentosum, group F [RCV001362330]	uncertain significance	16	13920226	13920226	Human	2	name
11614986	CV341865	single nucleotide variant	NM_005236.3(ERCC4):c.41C>G (p.Pro14Arg)	Xeroderma pigmentosum, group F [RCV000281667]	uncertain significance	16	13920206	13920206	Human	1	name
596947200	CV3548750	single nucleotide variant	NM_005236.3(ERCC4):c.705A>C (p.Ala235=)	not provided [RCV004811074]	likely benign	16	13928148	13928148	Human		name
597677011	CV3668101	single nucleotide variant	NM_005236.3(ERCC4):c.36G>A (p.Met12Ile)	Inborn genetic diseases [RCV004982135]\|Xeroderma pigmentosum, group F [RCV005218393]	uncertain significance	16	13920201	13920201	Human	2	name
597847089	CV3872645	single nucleotide variant	NM_005236.3(ERCC4):c.792G>A (p.Lys264=)	Xeroderma pigmentosum, group F [RCV005212281]	uncertain significance	16	13928235	13928235	Human	1	name
597859765	CV3874678	single nucleotide variant	NM_005236.3(ERCC4):c.756A>G (p.Leu252=)	Xeroderma pigmentosum, group F [RCV005214019]	likely benign	16	13928199	13928199	Human	1	name
12887624	CV400523	single nucleotide variant	NM_005236.3(ERCC4):c.718C>T (p.Leu240=)	Xeroderma pigmentosum, group F [RCV000469387]\|not specified [RCV001821353]	likely benign	16	13928161	13928161	Human	1	name
12883725	CV401098	single nucleotide variant	NM_005236.3(ERCC4):c.41C>T (p.Pro14Leu)	Xeroderma pigmentosum, group F [RCV000462139]	uncertain significance	16	13920206	13920206	Human	1	name
617152587	CV4020809	single nucleotide variant	NM_005236.3(ERCC4):c.399G>C (p.Val133=)	not provided [RCV005428562]	likely benign	16	13926571	13926571	Human		name
13213400	CV429755	single nucleotide variant	NM_005236.3(ERCC4):c.471A>G (p.Lys157=)	Xeroderma pigmentosum, group F [RCV002060112]\|not specified [RCV000499897]	likely benign\|uncertain significance	16	13926643	13926643	Human	1	name
13214010	CV429756	single nucleotide variant	NM_005236.3(ERCC4):c.906T>C (p.Asp302=)	Xeroderma pigmentosum [RCV002257771]\|Xeroderma pigmentosum, group F [RCV001449127]\|not provided [RCV004808736]\|not specified [RCV000500726]	likely benign	16	13930823	13930823	Human	2	name
13496631	CV465662	single nucleotide variant	NM_005236.3(ERCC4):c.372T>C (p.Pro124=)	Xeroderma pigmentosum, group F [RCV002530237]	likely benign	16	13922195	13922195	Human	1	name
13623816	CV529465	single nucleotide variant	NM_005236.3(ERCC4):c.714G>A (p.Lys238=)	Xeroderma pigmentosum, group F [RCV000651473]\|not provided [RCV004692038]	likely benign\|uncertain significance	16	13928157	13928157	Human	1	name
15118917	CV684574	single nucleotide variant	NM_005236.3(ERCC4):c.738G>A (p.Ser246=)	Xeroderma pigmentosum [RCV002258003]\|Xeroderma pigmentosum, group F [RCV000861402]\|not provided [RCV003413672]	likely benign	16	13928181	13928181	Human	2	name
15112952	CV693788	single nucleotide variant	NM_005236.3(ERCC4):c.534G>T (p.Val178=)	Xeroderma pigmentosum, group F [RCV003768673]	likely benign	16	13926706	13926706	Human	1	name
15202964	CV754899	single nucleotide variant	NM_005236.3(ERCC4):c.924T>C (p.Asn308=)	Xeroderma pigmentosum, group F [RCV000913639]	likely benign	16	13930841	13930841	Human	1	name
8627740	CV82884	single nucleotide variant	NM_005236.3(ERCC4):c.420C>T (p.Ile140=)	Xeroderma pigmentosum, group F [RCV002132596]	likely benign\|not provided	16	13926592	13926592	Human	1	name
26916731	CV843093	single nucleotide variant	NM_005236.3(ERCC4):c.37G>T (p.Ala13Ser)	Xeroderma pigmentosum, group F [RCV001056526]\|Xeroderma pigmentosum, group F [RCV005055151]	uncertain significance	16	13920202	13920202	Human	1	name
38486132	CV927559	single nucleotide variant	NM_005236.3(ERCC4):c.32C>T (p.Ala11Val)	Xeroderma pigmentosum, group F [RCV001220164]	uncertain significance	16	13920197	13920197	Human	1	name
126735726	CV1011832	single nucleotide variant	NM_005236.3(ERCC4):c.1870C>A (p.Arg624=)	Xeroderma pigmentosum, group F [RCV001313756]	likely benign\|uncertain significance	16	13937824	13937824	Human	1	name
126732542	CV1032335	single nucleotide variant	NM_005236.3(ERCC4):c.124G>A (p.Asp42Asn)	Xeroderma pigmentosum, group F [RCV001349621]	uncertain significance	16	13920289	13920289	Human	1	name
126911930	CV1038378	single nucleotide variant	NM_005236.3(ERCC4):c.256C>T (p.Arg86Cys)	Xeroderma pigmentosum, group F [RCV003771041]\|Xeroderma pigmentosum, group F [RCV005014478]\|not provided [RCV001355944]	uncertain significance	16	13922079	13922079	Human	1	name
126910760	CV1038379	single nucleotide variant	NM_005236.3(ERCC4):c.286A>C (p.Ser96Arg)	Xeroderma pigmentosum, group F [RCV002547591]\|not provided [RCV001354691]	uncertain significance	16	13922109	13922109	Human	1	name
126914177	CV1049318	single nucleotide variant	NM_005236.3(ERCC4):c.259C>T (p.Arg87Cys)	Xeroderma pigmentosum, group F [RCV001370379]	uncertain significance	16	13922082	13922082	Human	1	name
127263019	CV1081675	single nucleotide variant	NM_005236.3(ERCC4):c.1258C>T (p.Leu420=)	Xeroderma pigmentosum, group F [RCV001402857]	likely benign	16	13935190	13935190	Human	1	name
127278674	CV1081676	single nucleotide variant	NM_005236.3(ERCC4):c.1830C>T (p.Tyr610=)	Xeroderma pigmentosum, group F [RCV001408598]\|Xeroderma pigmentosum, group F [RCV002499877]	likely benign	16	13937784	13937784	Human	1	name
127231365	CV1081677	single nucleotide variant	NM_005236.3(ERCC4):c.2175G>A (p.Glu725=)	Xeroderma pigmentosum, group F [RCV001395285]	likely benign	16	13947771	13947771	Human	1	name
127271859	CV1081678	single nucleotide variant	NM_005236.3(ERCC4):c.2436G>A (p.Leu812=)	Xeroderma pigmentosum, group F [RCV001405491]	likely benign	16	13948032	13948032	Human	1	name
127279474	CV1103506	single nucleotide variant	NM_005236.3(ERCC4):c.1998C>T (p.Ser666=)	Xeroderma pigmentosum, group F [RCV001445818]	likely benign	16	13944816	13944816	Human	1	name
127275248	CV1103507	single nucleotide variant	NM_005236.3(ERCC4):c.2124C>A (p.Pro708=)	Xeroderma pigmentosum, group F [RCV001432241]	likely benign	16	13947720	13947720	Human	1	name
127278091	CV1103508	single nucleotide variant	NM_005236.3(ERCC4):c.2265C>T (p.Pro755=)	Xeroderma pigmentosum, group F [RCV001444794]	likely benign	16	13947861	13947861	Human	1	name
127284420	CV1103509	single nucleotide variant	NM_005236.3(ERCC4):c.2394A>G (p.Leu798=)	Xeroderma pigmentosum, group F [RCV001449432]	likely benign	16	13947990	13947990	Human	1	name
127278072	CV1103510	single nucleotide variant	NM_005236.3(ERCC4):c.2478G>A (p.Ala826=)	Xeroderma pigmentosum, group F [RCV001444776]	likely benign	16	13948074	13948074	Human	1	name
127317543	CV1124916	single nucleotide variant	NM_005236.3(ERCC4):c.1320T>C (p.Phe440=)	Xeroderma pigmentosum, group F [RCV001465921]	likely benign	16	13935252	13935252	Human	1	name
127320901	CV1124917	single nucleotide variant	NM_005236.3(ERCC4):c.2421T>C (p.His807=)	Xeroderma pigmentosum, group F [RCV001467063]	likely benign	16	13948017	13948017	Human	1	name
127335225	CV1124918	single nucleotide variant	NM_005236.3(ERCC4):c.2448G>A (p.Leu816=)	Xeroderma pigmentosum, group F [RCV001474103]	likely benign	16	13948044	13948044	Human	1	name
127299950	CV1124919	single nucleotide variant	NM_005236.3(ERCC4):c.2607C>T (p.His869=)	Xeroderma pigmentosum, group F [RCV001453717]\|not specified [RCV001820144]	likely benign	16	13948203	13948203	Human	1	name
127333398	CV1145788	single nucleotide variant	NM_005236.3(ERCC4):c.1698G>A (p.Leu566=)	Xeroderma pigmentosum, group F [RCV001490164]	likely benign	16	13935630	13935630	Human	1	name
127316189	CV1145789	single nucleotide variant	NM_005236.3(ERCC4):c.1971A>G (p.Val657=)	Xeroderma pigmentosum, group F [RCV001482729]	likely benign	16	13944789	13944789	Human	1	name
127324924	CV1145790	single nucleotide variant	NM_005236.3(ERCC4):c.2223C>T (p.Leu741=)	Xeroderma pigmentosum, group F [RCV001485623]	likely benign	16	13947819	13947819	Human	1	name
127316973	CV1145791	single nucleotide variant	NM_005236.3(ERCC4):c.2619C>T (p.Ile873=)	Xeroderma pigmentosum, group F [RCV001503215]	likely benign	16	13948215	13948215	Human	1	name
150334868	CV1166161	single nucleotide variant	NM_005236.3(ERCC4):c.2604C>T (p.His868=)	Xeroderma pigmentosum, group F [RCV002568893]\|not provided [RCV001531227]	likely benign	16	13948200	13948200	Human	1	name
151233907	CV1317565	single nucleotide variant	NM_005236.3(ERCC4):c.127C>T (p.Arg43Trp)	Fanconi anemia complementation group Q [RCV001788945]	uncertain significance	16	13920292	13920292	Human	1	name
8659517	CV134453	single nucleotide variant	NM_005236.3(ERCC4):c.2505T>C (p.Ser835=)	Fanconi anemia complementation group Q [RCV001657727]\|XFE progeroid syndrome [RCV001657726]\|Xeroderma pigmentosum, group F [RCV000265728]\|Xeroderma pigmentosum, group F [RCV001514330]\|not provided [RCV001650957]\|not specified [RCV000116988]	benign\|likely benign\|conflicting interpretations of pathogenicity	16	13948101	13948101	Human	3	name
151861157	CV1353264	single nucleotide variant	NM_005236.3(ERCC4):c.232A>T (p.Ile78Leu)	Xeroderma pigmentosum, group F [RCV001924013]	uncertain significance	16	13922055	13922055	Human	1	name
151801072	CV1365866	single nucleotide variant	NM_005236.3(ERCC4):c.250C>T (p.Leu84Phe)	Xeroderma pigmentosum, group F [RCV001917719]	uncertain significance	16	13922073	13922073	Human	1	name
8687420	CV137872	single nucleotide variant	NM_005236.3(ERCC4):c.176T>A (p.Val59Glu)	not specified [RCV000120805]	not provided	16	13920341	13920341	Human		name
8687430	CV137882	single nucleotide variant	NM_005236.3(ERCC4):c.217A>G (p.Ile73Val)	Fanconi anemia complementation group Q [RCV002291562]\|Inborn genetic diseases [RCV002515861]\|Xeroderma pigmentosum, group F [RCV000475162]\|Xeroderma pigmentosum, group F [RCV001116101]\|Xeroderma pigmentosum, group F [RCV002492422]\|not provided [RCV001358031]\|not specified [RCV000120816]	uncertain significance\|not provided	16	13922040	13922040	Human	3	name
8687431	CV137883	single nucleotide variant	NM_005236.3(ERCC4):c.241G>T (p.Val81Phe)	Xeroderma pigmentosum [RCV002257431]\|Xeroderma pigmentosum, group F [RCV000234335]\|Xeroderma pigmentosum, group F [RCV003315751]\|not provided [RCV003415912]\|not specified [RCV000120817]	benign\|likely benign\|not provided	16	13922064	13922064	Human	2	name
8687432	CV137884	single nucleotide variant	NM_005236.3(ERCC4):c.211T>C (p.Tyr71His)	Xeroderma pigmentosum, group F [RCV001209805]\|Xeroderma pigmentosum, group F [RCV001543122]\|not provided [RCV000728799]\|not specified [RCV000120818]	likely benign\|uncertain significance\|not provided	16	13922034	13922034	Human	1	name
151849842	CV1451989	single nucleotide variant	NM_005236.3(ERCC4):c.214T>C (p.Phe72Leu)	Xeroderma pigmentosum, group F [RCV002016424]	uncertain significance	16	13922037	13922037	Human	1	name
151843655	CV1457639	single nucleotide variant	NM_005236.3(ERCC4):c.137A>G (p.Tyr46Cys)	Inborn genetic diseases [RCV005331037]\|Xeroderma pigmentosum, group F [RCV001936424]	uncertain significance	16	13920302	13920302	Human	2	name
151840422	CV1462446	single nucleotide variant	NM_005236.3(ERCC4):c.2016C>T (p.Ala672=)	Xeroderma pigmentosum, group F [RCV002015265]\|not provided [RCV005242145]	likely benign\|uncertain significance	16	13944834	13944834	Human	1	name
151784135	CV1474558	single nucleotide variant	NM_005236.3(ERCC4):c.125A>G (p.Asp42Gly)	Xeroderma pigmentosum, group F [RCV001930722]	uncertain significance	16	13920290	13920290	Human	1	name
151799790	CV1479894	single nucleotide variant	NM_005236.3(ERCC4):c.1620G>A (p.Ser540=)	Xeroderma pigmentosum, group F [RCV001898957]	likely benign\|uncertain significance	16	13935552	13935552	Human	1	name
151761380	CV1496396	single nucleotide variant	NM_005236.3(ERCC4):c.143T>A (p.Phe48Tyr)	Xeroderma pigmentosum, group F [RCV001895360]	uncertain significance	16	13920308	13920308	Human	1	name
151719704	CV1500216	single nucleotide variant	NM_005236.3(ERCC4):c.1116A>G (p.Glu372=)	Xeroderma pigmentosum, group F [RCV001909533]	likely benign	16	13934205	13934205	Human	1	name
152116765	CV1523864	single nucleotide variant	NM_005236.3(ERCC4):c.1632C>T (p.Phe544=)	ERCC4-related disorder [RCV003971066]\|Xeroderma pigmentosum, group F [RCV002135195]\|not provided [RCV003408145]	likely benign	16	13935564	13935564	Human	3	name , trait , alternate_id
152062839	CV1524497	single nucleotide variant	NM_005236.3(ERCC4):c.1347C>G (p.Val449=)	Xeroderma pigmentosum, group F [RCV002146989]	likely benign	16	13935279	13935279	Human	1	name
152051226	CV1538582	single nucleotide variant	NM_005236.3(ERCC4):c.2169C>T (p.Cys723=)	Xeroderma pigmentosum, group F [RCV002189440]	likely benign	16	13947765	13947765	Human	1	name
152164793	CV1543604	single nucleotide variant	NM_005236.3(ERCC4):c.2226C>T (p.Tyr742=)	Xeroderma pigmentosum, group F [RCV002123876]	likely benign	16	13947822	13947822	Human	1	name
152171123	CV1552594	single nucleotide variant	NM_005236.3(ERCC4):c.1788G>A (p.Ala596=)	Xeroderma pigmentosum, group F [RCV002143346]	likely benign	16	13935720	13935720	Human	1	name
152164095	CV1560445	single nucleotide variant	NM_005236.3(ERCC4):c.1002G>C (p.Ser334=)	Xeroderma pigmentosum, group F [RCV002160178]	likely benign	16	13932185	13932185	Human	1	name
152161707	CV1584558	single nucleotide variant	NM_005236.3(ERCC4):c.1452C>A (p.Thr484=)	Xeroderma pigmentosum, group F [RCV002123317]	likely benign	16	13935384	13935384	Human	1	name
152029133	CV1599625	single nucleotide variant	NM_005236.3(ERCC4):c.2124C>T (p.Pro708=)	Xeroderma pigmentosum, group F [RCV002085698]\|Xeroderma pigmentosum, group F [RCV002494172]	likely benign	16	13947720	13947720	Human	1	name
152099533	CV1606562	single nucleotide variant	NM_005236.3(ERCC4):c.1758C>G (p.Thr586=)	Xeroderma pigmentosum, group F [RCV002195363]	likely benign	16	13935690	13935690	Human	1	name
152100231	CV1610800	single nucleotide variant	NM_005236.3(ERCC4):c.2646C>T (p.Asp882=)	Xeroderma pigmentosum, group F [RCV002133182]	likely benign	16	13948242	13948242	Human	1	name
152171003	CV1612647	single nucleotide variant	NM_005236.3(ERCC4):c.2466G>A (p.Gln822=)	Xeroderma pigmentosum, group F [RCV002183351]	likely benign	16	13948062	13948062	Human	1	name
152085157	CV1617212	single nucleotide variant	NM_005236.3(ERCC4):c.2434T>C (p.Leu812=)	Xeroderma pigmentosum, group F [RCV002076886]\|not provided [RCV003426295]	likely benign	16	13948030	13948030	Human	1	name
152070328	CV1622820	single nucleotide variant	NM_005236.3(ERCC4):c.2574G>A (p.Val858=)	Xeroderma pigmentosum, group F [RCV002209893]	likely benign	16	13948170	13948170	Human	1	name
152100446	CV1664129	single nucleotide variant	NM_005236.3(ERCC4):c.2307C>T (p.Leu769=)	Xeroderma pigmentosum, group F [RCV002078917]	likely benign	16	13947903	13947903	Human	1	name
152080656	CV1667000	single nucleotide variant	NM_005236.3(ERCC4):c.1449A>G (p.Arg483=)	not provided [RCV002211345]	likely benign	16	13935381	13935381	Human		name
153002323	CV1685317	single nucleotide variant	NM_005236.3(ERCC4):c.1788G>T (p.Ala596=)	Xeroderma pigmentosum [RCV002258696]	likely benign	16	13935720	13935720	Human	1	name
153305615	CV1688674	single nucleotide variant	NM_005236.3(ERCC4):c.187A>C (p.Asn63His)	Xeroderma pigmentosum, group F [RCV003101505]\|not specified [RCV002266411]	uncertain significance	16	13920352	13920352	Human	1	name
155642594	CV1707505	deletion	NM_005236.3(ERCC4):c.581del (p.Pro194fs)	Xeroderma pigmentosum, group F [RCV002288435]	likely pathogenic	16	13926752	13926752	Human	1	name
155645991	CV1709355	single nucleotide variant	NM_005236.3(ERCC4):c.194A>T (p.Gln65Leu)	Xeroderma pigmentosum, group F [RCV002292231]	uncertain significance	16	13920359	13920359	Human	1	name
156303033	CV1888060	single nucleotide variant	NM_005236.3(ERCC4):c.1689C>G (p.Pro563=)	ERCC4-related disorder [RCV004750815]\|Xeroderma pigmentosum, group F [RCV003088029]	likely benign\|uncertain significance	16	13935621	13935621	Human	3	name , trait , alternate_id
156295395	CV1904608	single nucleotide variant	NM_005236.3(ERCC4):c.199G>A (p.Ala67Thr)	Xeroderma pigmentosum, group F [RCV002598926]	uncertain significance	16	13920364	13920364	Human	1	name
156005289	CV1906407	single nucleotide variant	NM_005236.3(ERCC4):c.208G>A (p.Glu70Lys)	Xeroderma pigmentosum, group F [RCV003098998]	uncertain significance	16	13922031	13922031	Human	1	name
156418388	CV1911040	single nucleotide variant	NM_005236.3(ERCC4):c.1983A>T (p.Ala661=)	Xeroderma pigmentosum, group F [RCV002611575]	likely benign	16	13944801	13944801	Human	1	name
156297909	CV1924229	single nucleotide variant	NM_005236.3(ERCC4):c.1071A>T (p.Ile357=)	Xeroderma pigmentosum, group F [RCV002629101]	likely benign	16	13932254	13932254	Human	1	name
156354371	CV1962265	single nucleotide variant	NM_005236.3(ERCC4):c.2067T>C (p.Arg689=)	Xeroderma pigmentosum, group F [RCV002581287]	likely benign	16	13947663	13947663	Human	1	name
156412619	CV1968751	single nucleotide variant	NM_005236.3(ERCC4):c.106G>C (p.Ala36Pro)	Xeroderma pigmentosum, group F [RCV002608594]	uncertain significance	16	13920271	13920271	Human	1	name
155914248	CV2026223	single nucleotide variant	NM_005236.3(ERCC4):c.1743T>C (p.Tyr581=)	Xeroderma pigmentosum, group F [RCV002750364]	likely benign	16	13935675	13935675	Human	1	name
156145868	CV2078678	single nucleotide variant	NM_005236.3(ERCC4):c.2640A>G (p.Ser880=)	Xeroderma pigmentosum, group F [RCV002872149]	likely benign	16	13948236	13948236	Human	1	name
156219515	CV2087610	single nucleotide variant	NM_005236.3(ERCC4):c.2724C>G (p.Val908=)	Xeroderma pigmentosum, group F [RCV002875813]	likely benign	16	13948320	13948320	Human	1	name
156222363	CV2088934	single nucleotide variant	NM_005236.3(ERCC4):c.1620G>T (p.Ser540=)	Xeroderma pigmentosum, group F [RCV002894234]	likely benign	16	13935552	13935552	Human	1	name
156104674	CV2096357	single nucleotide variant	NM_005236.3(ERCC4):c.1062A>G (p.Lys354=)	Xeroderma pigmentosum, group F [RCV002913537]	likely benign	16	13932245	13932245	Human	1	name
156340577	CV2127364	single nucleotide variant	NM_005236.3(ERCC4):c.1429C>A (p.Arg477=)	Xeroderma pigmentosum, group F [RCV002938876]	likely benign	16	13935361	13935361	Human	1	name
156056217	CV2133790	single nucleotide variant	NM_005236.3(ERCC4):c.1317C>T (p.Thr439=)	Xeroderma pigmentosum, group F [RCV003000042]	likely benign	16	13935249	13935249	Human	1	name
156058696	CV2134124	single nucleotide variant	NM_005236.3(ERCC4):c.167C>T (p.Ala56Val)	Xeroderma pigmentosum, group F [RCV003000123]\|Xeroderma pigmentosum, group F [RCV005055208]	uncertain significance	16	13920332	13920332	Human	1	name
156336356	CV2189927	single nucleotide variant	NM_005236.3(ERCC4):c.1497A>G (p.Gly499=)	Xeroderma pigmentosum, group F [RCV003063984]	likely benign	16	13935429	13935429	Human	1	name
243054690	CV2419051	single nucleotide variant	NM_005236.3(ERCC4):c.100G>A (p.Val34Met)	Ovarian cancer [RCV003154735]\|Xeroderma pigmentosum, group F [RCV003778920]	likely pathogenic\|uncertain significance	16	13920265	13920265	Human	3	name
11349046	CV242192	single nucleotide variant	NM_005236.3(ERCC4):c.2463A>G (p.Pro821=)	ERCC4-related disorder [RCV003919964]\|Xeroderma pigmentosum, group F [RCV000229024]\|Xeroderma pigmentosum, group F [RCV000324572]\|not provided [RCV004715773]	benign\|uncertain significance	16	13948059	13948059	Human	3	name , trait , alternate_id
11543709	CV255456	single nucleotide variant	NM_005236.3(ERCC4):c.2655G>A (p.Thr885=)	Xeroderma pigmentosum, group F [RCV000384807]\|Xeroderma pigmentosum, group F [RCV000464766]\|Xeroderma pigmentosum, group F [RCV002500902]\|not provided [RCV001689851]\|not specified [RCV000242822]	benign\|likely benign	16	13948251	13948251	Human	1	name
11546600	CV255457	single nucleotide variant	NM_005236.3(ERCC4):c.2724C>T (p.Val908=)	Xeroderma pigmentosum [RCV002258866]\|Xeroderma pigmentosum, group F [RCV000288466]\|Xeroderma pigmentosum, group F [RCV000462759]\|not provided [RCV001531228]\|not specified [RCV000246670]	benign\|likely benign\|uncertain significance	16	13948320	13948320	Human	2	name
401727872	CV2678537	single nucleotide variant	NM_005236.3(ERCC4):c.290G>A (p.Arg97His)	Inborn genetic diseases [RCV003270292]	uncertain significance	16	13922113	13922113	Human	1	name
11580968	CV272985	deletion	NM_005236.3(ERCC4):c.915del (p.Asn308fs)	Xeroderma pigmentosum, group F [RCV001855213]\|Xeroderma pigmentosum, group F [RCV005016680]\|not provided [RCV000350484]	pathogenic\|likely pathogenic	16	13930832	13930832	Human	1	name
405004802	CV3082700	single nucleotide variant	NM_005236.3(ERCC4):c.1788G>C (p.Ala596=)	Xeroderma pigmentosum, group F [RCV003783799]	likely benign	16	13935720	13935720	Human	1	name
405014142	CV3083864	single nucleotide variant	NM_005236.3(ERCC4):c.2097C>A (p.Ile699=)	Xeroderma pigmentosum, group F [RCV003784657]	likely benign	16	13947693	13947693	Human	1	name
404992889	CV3084325	duplication	NM_005236.3(ERCC4):c.938dup (p.Arg314fs)	Xeroderma pigmentosum, group F [RCV003782518]\|Xeroderma pigmentosum, group F [RCV005014968]	pathogenic\|likely pathogenic	16	13930854	13930855	Human	1	name
405048546	CV3084460	single nucleotide variant	NM_005236.3(ERCC4):c.148C>T (p.Gln50Ter)	Xeroderma pigmentosum, group F [RCV003797867]	pathogenic	16	13920313	13920313	Human	1	name
402512373	CV3087386	single nucleotide variant	NM_005236.3(ERCC4):c.1371C>T (p.Asp457=)	Xeroderma pigmentosum, group F [RCV003789737]	likely benign	16	13935303	13935303	Human	1	name
402516575	CV3087734	single nucleotide variant	NM_005236.3(ERCC4):c.158G>A (p.Cys53Tyr)	Xeroderma pigmentosum, group F [RCV003790085]	uncertain significance	16	13920323	13920323	Human	1	name
404993251	CV3089031	single nucleotide variant	NM_005236.3(ERCC4):c.1107A>T (p.Thr369=)	Xeroderma pigmentosum, group F [RCV003782677]	likely benign	16	13934196	13934196	Human	1	name
402509562	CV3089113	duplication	NM_005236.3(ERCC4):c.663dup (p.Met222fs)	Xeroderma pigmentosum, group F [RCV003780144]	pathogenic	16	13928104	13928105	Human	1	name
402512661	CV3089376	single nucleotide variant	NM_005236.3(ERCC4):c.1089T>C (p.Ile363=)	Xeroderma pigmentosum, group F [RCV003780408]	likely benign	16	13932272	13932272	Human	1	name
402506832	CV3090563	single nucleotide variant	NM_005236.3(ERCC4):c.1599A>G (p.Glu533=)	Xeroderma pigmentosum, group F [RCV003789177]	likely benign	16	13935531	13935531	Human	1	name
405018194	CV3091674	single nucleotide variant	NM_005236.3(ERCC4):c.1767G>A (p.Arg589=)	Xeroderma pigmentosum, group F [RCV003795341]	likely benign	16	13935699	13935699	Human	1	name
402494755	CV3092315	single nucleotide variant	NM_005236.3(ERCC4):c.152T>G (p.Leu51Arg)	Xeroderma pigmentosum, group F [RCV003787934]	uncertain significance	16	13920317	13920317	Human	1	name
402499361	CV3092946	single nucleotide variant	NM_005236.3(ERCC4):c.1650C>T (p.Pro550=)	Xeroderma pigmentosum, group F [RCV003788410]	likely benign	16	13935582	13935582	Human	1	name
405012254	CV3093453	single nucleotide variant	NM_005236.3(ERCC4):c.2697T>C (p.Asp899=)	Xeroderma pigmentosum, group F [RCV003784457]	likely benign	16	13948293	13948293	Human	1	name
405016154	CV3093981	single nucleotide variant	NM_005236.3(ERCC4):c.2670T>C (p.Asn890=)	Xeroderma pigmentosum, group F [RCV003784831]	likely benign	16	13948266	13948266	Human	1	name
404990294	CV3094650	single nucleotide variant	NM_005236.3(ERCC4):c.293A>G (p.Tyr98Cys)	Xeroderma pigmentosum, group F [RCV003792663]	uncertain significance	16	13922116	13922116	Human	1	name
405032020	CV3095344	single nucleotide variant	NM_005236.3(ERCC4):c.247C>T (p.His83Tyr)	Xeroderma pigmentosum, group F [RCV003796550]	uncertain significance	16	13922070	13922070	Human	1	name
405006938	CV3096132	single nucleotide variant	NM_005236.3(ERCC4):c.1380G>A (p.Lys460=)	Xeroderma pigmentosum, group F [RCV003794282]	likely benign	16	13935312	13935312	Human	1	name
405028005	CV3098135	single nucleotide variant	NM_005236.3(ERCC4):c.2214C>T (p.Asn738=)	Xeroderma pigmentosum, group F [RCV003806428]	likely benign	16	13947810	13947810	Human	1	name
404978692	CV3099088	single nucleotide variant	NM_005236.3(ERCC4):c.2403C>T (p.Leu801=)	Xeroderma pigmentosum, group F [RCV003791068]	likely benign	16	13947999	13947999	Human	1	name
405076921	CV3100352	single nucleotide variant	NM_005236.3(ERCC4):c.2706C>T (p.His902=)	Xeroderma pigmentosum, group F [RCV003799905]	likely benign	16	13948302	13948302	Human	1	name
405078024	CV3100436	single nucleotide variant	NM_005236.3(ERCC4):c.1002G>A (p.Ser334=)	Xeroderma pigmentosum, group F [RCV003799989]	likely benign	16	13932185	13932185	Human	1	name
405176098	CV3101127	single nucleotide variant	NM_005236.3(ERCC4):c.2691T>C (p.Leu897=)	Xeroderma pigmentosum, group F [RCV003803514]	likely benign	16	13948287	13948287	Human	1	name
405022169	CV3101393	single nucleotide variant	NM_005236.3(ERCC4):c.190A>T (p.Thr64Ser)	Xeroderma pigmentosum, group F [RCV003805972]	uncertain significance	16	13920355	13920355	Human	1	name
405061039	CV3102834	single nucleotide variant	NM_005236.3(ERCC4):c.2635C>T (p.Leu879=)	Xeroderma pigmentosum, group F [RCV003798824]	likely benign	16	13948231	13948231	Human	1	name
405043182	CV3103754	single nucleotide variant	NM_005236.3(ERCC4):c.262G>A (p.Val88Ile)	Xeroderma pigmentosum, group F [RCV003797472]	uncertain significance	16	13922085	13922085	Human	1	name
405080992	CV3107362	single nucleotide variant	NM_005236.3(ERCC4):c.1903A>C (p.Arg635=)	Xeroderma pigmentosum, group F [RCV003800232]	uncertain significance	16	13937857	13937857	Human	1	name
405058237	CV3108228	single nucleotide variant	NM_005236.3(ERCC4):c.278C>T (p.Thr93Ile)	Xeroderma pigmentosum, group F [RCV003808806]	uncertain significance	16	13922101	13922101	Human	1	name
405077052	CV3109701	single nucleotide variant	NM_005236.3(ERCC4):c.2187C>T (p.Ile729=)	Xeroderma pigmentosum, group F [RCV003810107]	likely benign	16	13947783	13947783	Human	1	name
405161229	CV3109855	single nucleotide variant	NM_005236.3(ERCC4):c.2535T>C (p.Asn845=)	Xeroderma pigmentosum, group F [RCV003802214]	likely benign	16	13948131	13948131	Human	1	name
405108398	CV3112305	single nucleotide variant	NM_005236.3(ERCC4):c.1152G>A (p.Leu384=)	Xeroderma pigmentosum, group F [RCV003813148]	likely benign	16	13934241	13934241	Human	1	name
405039772	CV3112757	single nucleotide variant	NM_005236.3(ERCC4):c.2328T>C (p.Phe776=)	Xeroderma pigmentosum, group F [RCV003807424]	likely benign	16	13947924	13947924	Human	1	name
405263711	CV3189840	single nucleotide variant	NM_005236.3(ERCC4):c.1638C>T (p.Ile546=)	ERCC4-related disorder [RCV003896888]	likely benign	16	13935570	13935570	Human		name , trait , alternate_id
405289040	CV3193961	single nucleotide variant	NM_005236.3(ERCC4):c.1890T>C (p.Phe630=)	ERCC4-related disorder [RCV003983464]	likely benign	16	13937844	13937844	Human		name , trait , alternate_id
405269517	CV3201695	single nucleotide variant	NM_005236.3(ERCC4):c.1578G>A (p.Pro526=)	ERCC4-related disorder [RCV003899602]	likely benign	16	13935510	13935510	Human		name , trait , alternate_id
405704787	CV3225145	single nucleotide variant	NM_005236.3(ERCC4):c.118G>C (p.Gly40Arg)	XFE progeroid syndrome [RCV003990101]	uncertain significance	16	13920283	13920283	Human	1	name
11601638	CV324113	single nucleotide variant	NM_005236.3(ERCC4):c.275T>G (p.Ile92Ser)	Xeroderma pigmentosum, group F [RCV000284135]	uncertain significance	16	13922098	13922098	Human	1	name
11619126	CV333738	single nucleotide variant	NM_005236.3(ERCC4):c.1284G>A (p.Ala428=)	Xeroderma pigmentosum, group F [RCV000321953]\|Xeroderma pigmentosum, group F [RCV000529282]\|not provided [RCV003422265]\|not specified [RCV001820939]	likely benign\|uncertain significance	16	13935216	13935216	Human	1	name
405853212	CV3393645	single nucleotide variant	NM_005236.3(ERCC4):c.2430G>T (p.Ala810=)	not provided [RCV004546375]	likely benign	16	13948026	13948026	Human		name
11626159	CV340500	single nucleotide variant	NM_005236.3(ERCC4):c.2199C>T (p.Ile733=)	Xeroderma pigmentosum, group F [RCV000407678]\|Xeroderma pigmentosum, group F [RCV002522813]	likely benign\|uncertain significance	16	13947795	13947795	Human	1	name
407425821	CV3409648	single nucleotide variant	NM_005236.3(ERCC4):c.2262T>G (p.Arg754=)	not provided [RCV004585580]	likely benign	16	13947858	13947858	Human		name
11625698	CV341877	single nucleotide variant	NM_005236.3(ERCC4):c.1884A>G (p.Glu628=)	ERCC4-related disorder [RCV003922334]\|Xeroderma pigmentosum, group F [RCV000402299]\|Xeroderma pigmentosum, group F [RCV000464997]\|not provided [RCV004715937]	benign\|likely benign	16	13937838	13937838	Human	3	name , trait , alternate_id
11621980	CV341879	single nucleotide variant	NM_005236.3(ERCC4):c.2292C>T (p.Ser764=)	Xeroderma pigmentosum, group F [RCV000354867]\|Xeroderma pigmentosum, group F [RCV000863529]\|Xeroderma pigmentosum, group F [RCV005016696]\|not specified [RCV001820940]	likely benign\|uncertain significance	16	13947888	13947888	Human	1	name
408381292	CV3501456	single nucleotide variant	NM_005236.3(ERCC4):c.170G>C (p.Cys57Ser)	not provided [RCV004727545]	uncertain significance	16	13920335	13920335	Human		name
12848879	CV363886	deletion	NM_005236.3(ERCC4):c.755del (p.Leu252fs)	not provided [RCV000420009]	likely pathogenic	16	13928196	13928196	Human		name
597676994	CV3668099	single nucleotide variant	NM_005236.3(ERCC4):c.296A>C (p.Glu99Ala)	Inborn genetic diseases [RCV004982133]	uncertain significance	16	13922119	13922119	Human	1	name
597667738	CV3711339	single nucleotide variant	NM_005236.3(ERCC4):c.295G>C (p.Glu99Gln)	Xeroderma pigmentosum, group F [RCV005017362]\|not provided [RCV005004545]	uncertain significance	16	13922118	13922118	Human	1	name
597859429	CV3864919	single nucleotide variant	NM_005236.3(ERCC4):c.1726A>C (p.Arg576=)	Xeroderma pigmentosum, group F [RCV005213976]	likely benign	16	13935658	13935658	Human	1	name
597919699	CV3868634	single nucleotide variant	NM_005236.3(ERCC4):c.1668G>A (p.Pro556=)	Xeroderma pigmentosum, group F [RCV005223311]	likely benign	16	13935600	13935600	Human	1	name
597855594	CV3870669	single nucleotide variant	NM_005236.3(ERCC4):c.1581A>G (p.Glu527=)	Xeroderma pigmentosum, group F [RCV005228870]	likely benign	16	13935513	13935513	Human	1	name
597879032	CV3871983	single nucleotide variant	NM_005236.3(ERCC4):c.1068A>G (p.Lys356=)	Xeroderma pigmentosum, group F [RCV005217034]	likely benign	16	13932251	13932251	Human	1	name
597899006	CV3876148	single nucleotide variant	NM_005236.3(ERCC4):c.1191G>A (p.Glu397=)	Xeroderma pigmentosum, group F [RCV005220038]	likely benign	16	13934280	13934280	Human	1	name
597900061	CV3876268	single nucleotide variant	NM_005236.3(ERCC4):c.2316A>G (p.Arg772=)	Xeroderma pigmentosum, group F [RCV005220158]	likely benign	16	13947912	13947912	Human	1	name
597844139	CV3877706	single nucleotide variant	NM_005236.3(ERCC4):c.2433G>A (p.Glu811=)	Xeroderma pigmentosum, group F [RCV005227057]	likely benign	16	13948029	13948029	Human	1	name
597857418	CV3877793	single nucleotide variant	NM_005236.3(ERCC4):c.2208A>G (p.Leu736=)	Xeroderma pigmentosum, group F [RCV005229102]	likely benign	16	13947804	13947804	Human	1	name
597931201	CV3878557	single nucleotide variant	NM_005236.3(ERCC4):c.1959C>T (p.Asn653=)	Xeroderma pigmentosum, group F [RCV005224927]	likely benign	16	13944777	13944777	Human	1	name
597911753	CV3879582	single nucleotide variant	NM_005236.3(ERCC4):c.2055T>G (p.Val685=)	Xeroderma pigmentosum, group F [RCV005221983]	likely benign	16	13947651	13947651	Human	1	name
597913545	CV3880006	single nucleotide variant	NM_005236.3(ERCC4):c.1281A>G (p.Gly427=)	Xeroderma pigmentosum, group F [RCV005222245]	likely benign	16	13935213	13935213	Human	1	name
12882780	CV400529	single nucleotide variant	NM_005236.3(ERCC4):c.1446A>G (p.Glu482=)	Xeroderma pigmentosum, group F [RCV000460320]\|Xeroderma pigmentosum, group F [RCV001117659]\|not provided [RCV003457691]\|not specified [RCV001821352]	benign\|likely benign	16	13935378	13935378	Human	1	name
12889689	CV400665	single nucleotide variant	NM_005236.3(ERCC4):c.241G>A (p.Val81Ile)	Xeroderma pigmentosum, group F [RCV000473210]\|Xeroderma pigmentosum, group F [RCV002496767]\|not provided [RCV004822054]	likely benign\|uncertain significance	16	13922064	13922064	Human	1	name
12889505	CV400667	single nucleotide variant	NM_005236.3(ERCC4):c.1677T>C (p.Gly559=)	Xeroderma pigmentosum, group F [RCV000472869]	likely benign	16	13935609	13935609	Human	1	name
12887448	CV401337	single nucleotide variant	NM_005236.3(ERCC4):c.1212A>G (p.Pro404=)	Xeroderma pigmentosum, group F [RCV000469080]	uncertain significance	16	13934301	13934301	Human	1	name
12892150	CV401357	single nucleotide variant	NM_005236.3(ERCC4):c.1899C>T (p.Leu633=)	Xeroderma pigmentosum, group F [RCV001490032]	likely benign	16	13937853	13937853	Human	1	name
617148956	CV4021236	single nucleotide variant	NM_005236.3(ERCC4):c.1248A>G (p.Thr416=)	not provided [RCV005425205]	likely benign	16	13935180	13935180	Human		name
13213203	CV429758	single nucleotide variant	NM_005236.3(ERCC4):c.2046A>G (p.Gln682=)	Xeroderma pigmentosum [RCV002258935]\|Xeroderma pigmentosum, group F [RCV000530646]\|not specified [RCV000499736]	likely benign	16	13947642	13947642	Human	2	name
13216117	CV429759	single nucleotide variant	NM_005236.3(ERCC4):c.2427G>A (p.Thr809=)	Xeroderma pigmentosum, group F [RCV000651480]\|not specified [RCV000503360]	likely benign\|uncertain significance	16	13948023	13948023	Human	1	name
13216134	CV429760	single nucleotide variant	NM_005236.3(ERCC4):c.2694T>C (p.Tyr898=)	Xeroderma pigmentosum [RCV002258936]\|Xeroderma pigmentosum, group F [RCV002060113]\|not specified [RCV000503387]	likely benign	16	13948290	13948290	Human	2	name
13485291	CV465058	single nucleotide variant	NM_005236.3(ERCC4):c.1123C>T (p.Leu375=)	ERCC4-related disorder [RCV003952851]\|Xeroderma pigmentosum, group F [RCV001455477]	likely benign	16	13934212	13934212	Human	3	name , trait , alternate_id
13494538	CV465726	single nucleotide variant	NM_005236.3(ERCC4):c.1899C>G (p.Leu633=)	Xeroderma pigmentosum, group F [RCV000558977]	likely benign	16	13937853	13937853	Human	1	name
13623817	CV529434	single nucleotide variant	NM_005236.3(ERCC4):c.260G>A (p.Arg87His)	Inborn genetic diseases [RCV002531974]\|Xeroderma pigmentosum, group F [RCV000651472]	uncertain significance	16	13922083	13922083	Human	2	name
13623774	CV529772	single nucleotide variant	NM_005236.3(ERCC4):c.1983A>G (p.Ala661=)	Xeroderma pigmentosum [RCV002257914]\|Xeroderma pigmentosum, group F [RCV000651481]\|not provided [RCV002469237]	likely benign	16	13944801	13944801	Human	2	name
14398897	CV613483	deletion	NM_005236.3(ERCC4):c.388+1164_792+795del	Hutchinson-Gilford syndrome [RCV001034543]\|XFE progeroid syndrome [RCV000766209]\|not provided [RCV001194774]	pathogenic\|likely pathogenic	16	13923372	13929027	Human	2	name
14733168	CV643908	single nucleotide variant	NM_005236.3(ERCC4):c.257G>A (p.Arg86His)	Fanconi anemia complementation group Q [RCV001788354]\|Inborn genetic diseases [RCV002537142]\|Xeroderma pigmentosum, group F [RCV000802175]	uncertain significance	16	13922080	13922080	Human	3	name
15118486	CV684575	single nucleotide variant	NM_005236.3(ERCC4):c.1347C>A (p.Val449=)	Xeroderma pigmentosum, group F [RCV001425092]	likely benign	16	13935279	13935279	Human	1	name
15118735	CV684576	single nucleotide variant	NM_005236.3(ERCC4):c.2475G>A (p.Ala825=)	Xeroderma pigmentosum, group F [RCV002064432]	likely benign	16	13948071	13948071	Human	1	name
15123980	CV684577	single nucleotide variant	NM_005236.3(ERCC4):c.2700C>T (p.Phe900=)	Xeroderma pigmentosum, group F [RCV000862335]	likely benign	16	13948296	13948296	Human	1	name
15144958	CV688524	single nucleotide variant	NM_005236.3(ERCC4):c.1269T>C (p.Tyr423=)	Xeroderma pigmentosum, group F [RCV002538964]	likely benign	16	13935201	13935201	Human	1	name
15103294	CV688525	single nucleotide variant	NM_005236.3(ERCC4):c.1431G>T (p.Arg477=)	Xeroderma pigmentosum, group F [RCV003768664]	likely benign	16	13935363	13935363	Human	1	name
15158344	CV688526	single nucleotide variant	NM_005236.3(ERCC4):c.2517C>T (p.Pro839=)	Xeroderma pigmentosum [RCV002258014]\|Xeroderma pigmentosum, group F [RCV002064590]\|not provided [RCV003424400]	likely benign	16	13948113	13948113	Human	2	name
15111543	CV693789	single nucleotide variant	NM_005236.3(ERCC4):c.1297T>C (p.Leu433=)	Xeroderma pigmentosum, group F [RCV001858551]	likely benign	16	13935229	13935229	Human	1	name
15186704	CV739952	single nucleotide variant	NM_005236.3(ERCC4):c.1554A>C (p.Ile518=)	Xeroderma pigmentosum, group F [RCV000908879]	likely benign	16	13935486	13935486	Human	1	name
15148387	CV739953	single nucleotide variant	NM_005236.3(ERCC4):c.2118T>C (p.Ile706=)	not provided [RCV000900708]	likely benign	16	13947714	13947714	Human		name
15193744	CV770549	single nucleotide variant	NM_005236.3(ERCC4):c.2424A>G (p.Ala808=)	Xeroderma pigmentosum, group F [RCV005208652]	likely benign	16	13948020	13948020	Human	1	name
8627741	CV82885	single nucleotide variant	NM_005236.2(ERCC4):c.2358C>T (p.Ser786=)	Malignant melanoma [RCV000062965]	not provided	16	13947954	13947954	Human		name
26887250	CV843094	single nucleotide variant	NM_005236.3(ERCC4):c.109C>T (p.Arg37Cys)	Xeroderma pigmentosum, group F [RCV001066566]\|not provided [RCV003238298]	uncertain significance	16	13920274	13920274	Human	1	name
28875870	CV874634	single nucleotide variant	NM_005236.3(ERCC4):c.145C>T (p.Leu49Phe)	Inborn genetic diseases [RCV004619518]\|Xeroderma pigmentosum [RCV002258137]\|Xeroderma pigmentosum, group F [RCV001116100]\|Xeroderma pigmentosum, group F [RCV001359252]\|not provided [RCV001759882]	uncertain significance	16	13920310	13920310	Human	3	name
28886083	CV874639	single nucleotide variant	NM_005236.3(ERCC4):c.1740T>G (p.Leu580=)	Xeroderma pigmentosum, group F [RCV001119238]\|Xeroderma pigmentosum, group F [RCV002556538]	likely benign\|uncertain significance	16	13935672	13935672	Human	1	name
28892154	CV874642	single nucleotide variant	NM_005236.3(ERCC4):c.2178C>T (p.Arg726=)	Xeroderma pigmentosum, group F [RCV001121238]\|Xeroderma pigmentosum, group F [RCV001312489]	likely benign\|uncertain significance	16	13947774	13947774	Human	1	name
28876578	CV874643	single nucleotide variant	NM_005236.3(ERCC4):c.2514T>C (p.Leu838=)	ERCC4-related disorder [RCV003898110]\|Xeroderma pigmentosum, group F [RCV001116323]\|Xeroderma pigmentosum, group F [RCV002558148]	likely benign\|uncertain significance	16	13948110	13948110	Human	3	name , trait , alternate_id
38467583	CV920888	single nucleotide variant	NM_005236.3(ERCC4):c.1860C>G (p.Leu620=)	Xeroderma pigmentosum, group F [RCV002071856]\|not provided [RCV001200402]	likely benign	16	13937814	13937814	Human	1	name
38463542	CV937217	single nucleotide variant	NM_005236.3(ERCC4):c.122C>G (p.Ala41Gly)	Xeroderma pigmentosum, group F [RCV001201434]	uncertain significance	16	13920287	13920287	Human	1	name
126755990	CV996586	single nucleotide variant	NM_005236.3(ERCC4):c.130C>T (p.Leu44Phe)	Xeroderma pigmentosum, group F [RCV001298474]	uncertain significance	16	13920295	13920295	Human	1	name
126745687	CV996597	single nucleotide variant	NM_005236.3(ERCC4):c.2430G>A (p.Ala810=)	ERCC4-related disorder [RCV003898294]\|Xeroderma pigmentosum, group F [RCV001306009]	likely benign\|uncertain significance	16	13948026	13948026	Human	3	name , trait , alternate_id
126725392	CV1032336	single nucleotide variant	NM_005236.3(ERCC4):c.404G>A (p.Arg135Lys)	Xeroderma pigmentosum, group F [RCV001348135]	uncertain significance	16	13926576	13926576	Human	1	name
126726262	CV1032337	single nucleotide variant	NM_005236.3(ERCC4):c.425C>A (p.Ser142Tyr)	Xeroderma pigmentosum, group F [RCV001348401]	uncertain significance	16	13926597	13926597	Human	1	name
126767034	CV1032338	single nucleotide variant	NM_005236.3(ERCC4):c.514G>C (p.Asp172His)	Xeroderma pigmentosum, group F [RCV001342660]	uncertain significance	16	13926686	13926686	Human	1	name
126772222	CV1032339	single nucleotide variant	NM_005236.3(ERCC4):c.712A>G (p.Lys238Glu)	Xeroderma pigmentosum, group F [RCV001345494]	uncertain significance	16	13928155	13928155	Human	1	name
126917182	CV1049319	single nucleotide variant	NM_005236.3(ERCC4):c.782C>T (p.Pro261Leu)	Xeroderma pigmentosum, group F [RCV001371930]	uncertain significance	16	13928225	13928225	Human	1	name
126913041	CV1049320	single nucleotide variant	NM_005236.3(ERCC4):c.799C>T (p.Arg267Cys)	Xeroderma pigmentosum, group F [RCV001369955]\|not provided [RCV004692661]	uncertain significance	16	13930716	13930716	Human	1	name
127234684	CV1065882	single nucleotide variant	NM_005236.3(ERCC4):c.472C>T (p.Arg158Cys)	XFE progeroid syndrome [RCV001391663]\|Xeroderma pigmentosum, group F [RCV001849515]\|Xeroderma pigmentosum, group F [RCV005209546]	uncertain significance	16	13926644	13926644	Human	2	name
150334866	CV1166160	duplication	NM_005236.3(ERCC4):c.1081dup (p.Met361fs)	not provided [RCV001531226]	likely pathogenic	16	13932258	13932259	Human		name
151348873	CV1170315	single nucleotide variant	NM_005236.3(ERCC4):c.715G>A (p.Glu239Lys)	Abnormality of blood and blood-forming tissues [RCV001814342]	likely pathogenic	16	13928158	13928158	Human	1	name
150407975	CV1182521	single nucleotide variant	NM_005236.3(ERCC4):c.616C>T (p.Gln206Ter)	Fanconi anemia complementation group Q [RCV001554280]	likely pathogenic	16	13928059	13928059	Human	1	name
150490199	CV1267568	microsatellite	NM_005236.3(ERCC4):c.1905-215_1905-213del	not provided [RCV001687592]	benign	16	13944504	13944506	Human		name
150548248	CV1310124	single nucleotide variant	NM_005236.3(ERCC4):c.700A>C (p.Asn234His)	Xeroderma pigmentosum, group F [RCV002541035]\|not provided [RCV003238122]	uncertain significance	16	13928143	13928143	Human	1	name
151354348	CV1329481	single nucleotide variant	NM_005236.3(ERCC4):c.579G>A (p.Trp193Ter)	ERCC4-Related Disorders [RCV004782796]\|Xeroderma pigmentosum, group F [RCV001869789]\|not provided [RCV001817844]	pathogenic	16	13926751	13926751	Human	3	name , trait
151792674	CV1341502	single nucleotide variant	NM_005236.3(ERCC4):c.346G>A (p.Val116Ile)	Xeroderma pigmentosum [RCV002258317]\|Xeroderma pigmentosum, group F [RCV001866388]	uncertain significance	16	13922169	13922169	Human	2	name
151812748	CV1343605	single nucleotide variant	NM_005236.3(ERCC4):c.457C>T (p.Arg153Cys)	Xeroderma pigmentosum, group F [RCV001918774]	uncertain significance	16	13926629	13926629	Human	1	name
151824063	CV1349513	single nucleotide variant	NM_005236.3(ERCC4):c.870A>G (p.Ile290Met)	Xeroderma pigmentosum, group F [RCV001934428]	uncertain significance	16	13930787	13930787	Human	1	name
151848427	CV1353107	single nucleotide variant	NM_005236.3(ERCC4):c.475G>A (p.Gly159Ser)	Xeroderma pigmentosum, group F [RCV001922442]	uncertain significance	16	13926647	13926647	Human	1	name
151723007	CV1358069	single nucleotide variant	NM_005236.3(ERCC4):c.377A>T (p.Asp126Val)	Xeroderma pigmentosum, group F [RCV001945177]	uncertain significance	16	13922200	13922200	Human	1	name
151848911	CV1358470	single nucleotide variant	NM_005236.3(ERCC4):c.950A>G (p.Glu317Gly)	Xeroderma pigmentosum, group F [RCV001937087]	uncertain significance	16	13930867	13930867	Human	1	name
151849623	CV1368489	single nucleotide variant	NM_005236.3(ERCC4):c.737C>T (p.Ser246Leu)	Xeroderma pigmentosum, group F [RCV001978750]	uncertain significance	16	13928180	13928180	Human	1	name
8687433	CV137885	single nucleotide variant	NM_005236.3(ERCC4):c.938T>C (p.Leu313Pro)	Xeroderma pigmentosum, group F [RCV005055070]\|Xeroderma pigmentosum, group F [RCV005222756]\|not provided [RCV003237721]\|not specified [RCV000120819]	uncertain significance\|not provided	16	13930855	13930855	Human	1	name
8687434	CV137886	single nucleotide variant	NM_005236.3(ERCC4):c.988G>C (p.Asp330His)	not specified [RCV000120820]	not provided	16	13932171	13932171	Human		name
151746953	CV1403019	single nucleotide variant	NM_005236.3(ERCC4):c.376G>C (p.Asp126His)	Xeroderma pigmentosum, group F [RCV001912538]	uncertain significance	16	13922199	13922199	Human	1	name
151891949	CV1403277	single nucleotide variant	NM_005236.3(ERCC4):c.671C>T (p.Ala224Val)	Xeroderma pigmentosum, group F [RCV001943600]	uncertain significance	16	13928114	13928114	Human	1	name
151748841	CV1431034	single nucleotide variant	NM_005236.3(ERCC4):c.989A>C (p.Asp330Ala)	Xeroderma pigmentosum, group F [RCV001912761]	uncertain significance	16	13932172	13932172	Human	1	name
151744632	CV1432895	single nucleotide variant	NM_005236.3(ERCC4):c.794C>T (p.Thr265Ile)	Xeroderma pigmentosum, group F [RCV001968502]	uncertain significance	16	13930711	13930711	Human	1	name
151785389	CV1435335	single nucleotide variant	NM_005236.3(ERCC4):c.830T>C (p.Leu277Pro)	Xeroderma pigmentosum, group F [RCV001916265]	uncertain significance	16	13930747	13930747	Human	1	name
151867811	CV1437899	single nucleotide variant	NM_005236.3(ERCC4):c.541G>A (p.Val181Met)	Xeroderma pigmentosum, group F [RCV001906094]	uncertain significance	16	13926713	13926713	Human	1	name
151878533	CV1493845	single nucleotide variant	NM_005236.3(ERCC4):c.769G>T (p.Ala257Ser)	Xeroderma pigmentosum, group F [RCV001982211]	uncertain significance	16	13928212	13928212	Human	1	name
151891695	CV1502890	single nucleotide variant	NM_005236.3(ERCC4):c.823C>T (p.His275Tyr)	Xeroderma pigmentosum, group F [RCV001943465]	uncertain significance	16	13930740	13930740	Human	1	name
155744276	CV1773012	single nucleotide variant	NM_005236.3(ERCC4):c.937C>G (p.Leu313Val)	Xeroderma pigmentosum, group F [RCV002303086]	uncertain significance	16	13930854	13930854	Human	1	name
156198442	CV1897299	single nucleotide variant	NM_005236.3(ERCC4):c.736T>A (p.Ser246Thr)	Xeroderma pigmentosum, group F [RCV002574657]	uncertain significance	16	13928179	13928179	Human	1	name
155941503	CV1902125	single nucleotide variant	NM_005236.3(ERCC4):c.532G>A (p.Val178Met)	Xeroderma pigmentosum, group F [RCV003073569]	uncertain significance	16	13926704	13926704	Human	1	name
155960381	CV1912082	single nucleotide variant	NM_005236.3(ERCC4):c.924T>A (p.Asn308Lys)	Xeroderma pigmentosum, group F [RCV002616703]	uncertain significance	16	13930841	13930841	Human	1	name
156200497	CV1916739	single nucleotide variant	NM_005236.3(ERCC4):c.872T>A (p.Leu291Ter)	Xeroderma pigmentosum, group F [RCV002595685]	pathogenic	16	13930789	13930789	Human	1	name
156436157	CV1937363	single nucleotide variant	NM_005236.3(ERCC4):c.458G>A (p.Arg153His)	Xeroderma pigmentosum, group F [RCV003105227]	uncertain significance	16	13926630	13926630	Human	1	name
156224499	CV1962339	single nucleotide variant	NM_005236.3(ERCC4):c.317T>G (p.Val106Gly)	Xeroderma pigmentosum, group F [RCV002596580]	uncertain significance	16	13922140	13922140	Human	1	name
155913742	CV1990305	single nucleotide variant	NM_005236.3(ERCC4):c.431A>G (p.Gln144Arg)	Xeroderma pigmentosum, group F [RCV002614174]	uncertain significance	16	13926603	13926603	Human	1	name
156108124	CV1996822	single nucleotide variant	NM_005236.3(ERCC4):c.321A>G (p.Ile107Met)	Xeroderma pigmentosum, group F [RCV002662379]	uncertain significance	16	13922144	13922144	Human	1	name
156203003	CV2004277	single nucleotide variant	NM_005236.3(ERCC4):c.409C>G (p.His137Asp)	Xeroderma pigmentosum, group F [RCV002666561]	uncertain significance	16	13926581	13926581	Human	1	name
156028064	CV2052085	single nucleotide variant	NM_005236.3(ERCC4):c.529C>T (p.His177Tyr)	Xeroderma pigmentosum, group F [RCV002820939]	uncertain significance	16	13926701	13926701	Human	1	name
155958532	CV2078525	single nucleotide variant	NM_005236.3(ERCC4):c.685A>G (p.Ile229Val)	Xeroderma pigmentosum, group F [RCV002880902]	uncertain significance	16	13928128	13928128	Human	1	name
156033446	CV2097595	single nucleotide variant	NM_005236.3(ERCC4):c.985C>T (p.Leu329Phe)	Xeroderma pigmentosum, group F [RCV002885502]	uncertain significance	16	13932168	13932168	Human	1	name
156120840	CV2107605	single nucleotide variant	NM_005236.3(ERCC4):c.776G>A (p.Gly259Glu)	Xeroderma pigmentosum, group F [RCV002914159]\|Xeroderma pigmentosum, group F [RCV005019462]	uncertain significance	16	13928219	13928219	Human	1	name
156254027	CV2162853	single nucleotide variant	NM_005236.3(ERCC4):c.336G>T (p.Arg112Ser)	Xeroderma pigmentosum, group F [RCV003026439]	uncertain significance	16	13922159	13922159	Human	1	name
156181796	CV2167596	single nucleotide variant	NM_005236.3(ERCC4):c.550A>G (p.Asn184Asp)	Xeroderma pigmentosum, group F [RCV003023850]	uncertain significance	16	13926722	13926722	Human	1	name
156344054	CV2186160	single nucleotide variant	NM_005236.3(ERCC4):c.313G>C (p.Gly105Arg)	Xeroderma pigmentosum, group F [RCV003047911]	uncertain significance	16	13922136	13922136	Human	1	name
156358894	CV2260862	single nucleotide variant	NM_005236.3(ERCC4):c.889T>C (p.Tyr297His)	Inborn genetic diseases [RCV002812514]	uncertain significance	16	13930806	13930806	Human	1	name
243054394	CV2418601	single nucleotide variant	NM_005236.3(ERCC4):c.961G>C (p.Gly321Arg)	Xeroderma pigmentosum, group F [RCV003154582]	uncertain significance	16	13930878	13930878	Human	1	name
243054400	CV2418607	single nucleotide variant	NM_005236.3(ERCC4):c.476G>A (p.Gly159Asp)	Xeroderma pigmentosum, group F [RCV003154587]	uncertain significance	16	13926648	13926648	Human	1	name
11348305	CV242191	single nucleotide variant	NM_005236.3(ERCC4):c.503C>G (p.Ala168Gly)	ERCC4-related disorder [RCV003929973]\|Fanconi anemia complementation group Q [RCV001294109]\|Xeroderma pigmentosum, group F [RCV000226103]\|Xeroderma pigmentosum, group F [RCV005016640]	likely benign\|uncertain significance	16	13926675	13926675	Human	4	name , trait , alternate_id
329394386	CV2460731	single nucleotide variant	NM_005236.3(ERCC4):c.732C>G (p.Asn244Lys)	Inborn genetic diseases [RCV003193650]	uncertain significance	16	13928175	13928175	Human	1	name
329401439	CV2460819	single nucleotide variant	NM_005236.3(ERCC4):c.520G>C (p.Gly174Arg)	Inborn genetic diseases [RCV003198392]	uncertain significance	16	13926692	13926692	Human	1	name
329846953	CV2524055	single nucleotide variant	NM_005236.3(ERCC4):c.303C>A (p.Tyr101Ter)	Xeroderma pigmentosum [RCV003226760]	likely pathogenic	16	13922126	13922126	Human	1	name
401720210	CV2675810	single nucleotide variant	NM_005236.3(ERCC4):c.946A>G (p.Thr316Ala)	Inborn genetic diseases [RCV003243948]	uncertain significance	16	13930863	13930863	Human	1	name
401735306	CV2687548	single nucleotide variant	NM_005236.3(ERCC4):c.553C>A (p.Leu185Ile)	Inborn genetic diseases [RCV003249746]	uncertain significance	16	13926725	13926725	Human	1	name
401759728	CV2701691	single nucleotide variant	NM_005236.3(ERCC4):c.523T>G (p.Phe175Val)	Inborn genetic diseases [RCV003256970]	uncertain significance	16	13926695	13926695	Human	1	name
401905409	CV2831452	single nucleotide variant	NM_005236.3(ERCC4):c.520G>A (p.Gly174Ser)	Fanconi anemia complementation group Q [RCV003444444]	uncertain significance	16	13926692	13926692	Human	1	name
405023121	CV3081892	single nucleotide variant	NM_005236.3(ERCC4):c.745G>T (p.Val249Leu)	Xeroderma pigmentosum, group F [RCV003785498]	uncertain significance	16	13928188	13928188	Human	1	name
402523347	CV3086652	single nucleotide variant	NM_005236.3(ERCC4):c.856C>T (p.Gln286Ter)	Xeroderma pigmentosum, group F [RCV003781269]	pathogenic	16	13930773	13930773	Human	1	name
402512504	CV3087397	single nucleotide variant	NM_005236.3(ERCC4):c.811G>T (p.Asp271Tyr)	Xeroderma pigmentosum, group F [RCV003789748]	uncertain significance	16	13930728	13930728	Human	1	name
402512895	CV3087453	single nucleotide variant	NM_005236.3(ERCC4):c.421G>A (p.Glu141Lys)	Xeroderma pigmentosum, group F [RCV003789804]	uncertain significance	16	13926593	13926593	Human	1	name
402514289	CV3087549	single nucleotide variant	NM_005236.3(ERCC4):c.820T>C (p.Trp274Arg)	Xeroderma pigmentosum, group F [RCV003789900]	uncertain significance	16	13930737	13930737	Human	1	name
402506644	CV3090389	single nucleotide variant	NM_005236.3(ERCC4):c.848C>A (p.Ser283Tyr)	Xeroderma pigmentosum, group F [RCV003789159]	uncertain significance	16	13930765	13930765	Human	1	name
402519799	CV3091885	single nucleotide variant	NM_005236.3(ERCC4):c.314G>C (p.Gly105Ala)	Xeroderma pigmentosum, group F [RCV003790331]	uncertain significance	16	13922137	13922137	Human	1	name
405034508	CV3093068	single nucleotide variant	NM_005236.3(ERCC4):c.730A>C (p.Asn244His)	Xeroderma pigmentosum, group F [RCV003786419]	uncertain significance	16	13928173	13928173	Human	1	name
405015257	CV3093889	single nucleotide variant	NM_005236.3(ERCC4):c.652A>G (p.Met218Val)	Xeroderma pigmentosum, group F [RCV003784739]	uncertain significance	16	13928095	13928095	Human	1	name
404990419	CV3094662	single nucleotide variant	NM_005236.3(ERCC4):c.886C>T (p.Gln296Ter)	Xeroderma pigmentosum, group F [RCV003792676]	pathogenic	16	13930803	13930803	Human	1	name
405048560	CV3097489	single nucleotide variant	NM_005236.3(ERCC4):c.449G>C (p.Arg150Pro)	Xeroderma pigmentosum, group F [RCV003808069]	uncertain significance	16	13926621	13926621	Human	1	name
405167109	CV3107195	single nucleotide variant	NM_005236.3(ERCC4):c.661A>G (p.Thr221Ala)	Xeroderma pigmentosum, group F [RCV003802686]	uncertain significance	16	13928104	13928104	Human	1	name
405155220	CV3110355	deletion	NM_005236.3(ERCC4):c.1402del (p.Arg468fs)	Xeroderma pigmentosum, group F [RCV003817876]\|Xeroderma pigmentosum, group F [RCV005014980]	pathogenic\|likely pathogenic	16	13935331	13935331	Human	1	name
8600267	CV31620	single nucleotide variant	NM_005236.3(ERCC4):c.458G>C (p.Arg153Pro)	XFE progeroid syndrome [RCV000018049]	pathogenic	16	13926630	13926630	Human	1	name
405269744	CV3187467	deletion	NM_005236.3(ERCC4):c.1315del (p.Thr439fs)	not provided [RCV003887551]	pathogenic	16	13935244	13935244	Human		name
11647191	CV324118	single nucleotide variant	NM_005236.3(ERCC4):c.935C>G (p.Ser312Cys)	Xeroderma pigmentosum, group F [RCV000275221]	uncertain significance	16	13930852	13930852	Human	1	name
407573862	CV3498211	single nucleotide variant	NM_005236.3(ERCC4):c.307C>T (p.Gln103Ter)	Xeroderma pigmentosum [RCV004702685]	pathogenic	16	13922130	13922130	Human	1	name
597676965	CV3668095	single nucleotide variant	NM_005236.3(ERCC4):c.461A>G (p.Gln154Arg)	Inborn genetic diseases [RCV004982129]	uncertain significance	16	13926633	13926633	Human	1	name
597757696	CV3711342	single nucleotide variant	NM_005236.3(ERCC4):c.412A>G (p.Arg138Gly)	Xeroderma pigmentosum, group F [RCV005017638]	uncertain significance	16	13926584	13926584	Human	1	name
597757706	CV3711345	single nucleotide variant	NM_005236.3(ERCC4):c.971C>G (p.Ser324Ter)	Xeroderma pigmentosum, group F [RCV005017640]	likely pathogenic	16	13930888	13930888	Human	1	name
597757732	CV3711351	duplication	NM_005236.3(ERCC4):c.1656dup (p.Ile553fs)	Xeroderma pigmentosum, group F [RCV005017646]	likely pathogenic	16	13935587	13935588	Human	1	name
597830321	CV3735345	duplication	NM_005236.3(ERCC4):c.1417dup (p.Gln473fs)	Xeroderma pigmentosum, group F [RCV005055262]	likely pathogenic	16	13935344	13935345	Human	1	name
597837539	CV3866821	single nucleotide variant	NM_005236.3(ERCC4):c.354C>A (p.Phe118Leu)	Xeroderma pigmentosum, group F [RCV005225812]	uncertain significance	16	13922177	13922177	Human	1	name
597837888	CV3870954	single nucleotide variant	NM_005236.3(ERCC4):c.891T>G (p.Tyr297Ter)	Xeroderma pigmentosum, group F [RCV005210613]	pathogenic	16	13930808	13930808	Human	1	name
597850412	CV3876961	single nucleotide variant	NM_005236.3(ERCC4):c.319A>T (p.Ile107Leu)	Xeroderma pigmentosum, group F [RCV005228189]	uncertain significance	16	13922142	13922142	Human	1	name
598170134	CV3961691	single nucleotide variant	NM_005236.3(ERCC4):c.913A>G (p.Thr305Ala)	Inborn genetic diseases [RCV005330647]	uncertain significance	16	13930830	13930830	Human	1	name
12882592	CV401100	single nucleotide variant	NM_005236.3(ERCC4):c.889T>A (p.Tyr297Asn)	Xeroderma pigmentosum, group F [RCV000459953]	uncertain significance	16	13930806	13930806	Human	1	name
13215899	CV429754	single nucleotide variant	NM_005236.3(ERCC4):c.396G>T (p.Leu132Phe)	Xeroderma pigmentosum, group F [RCV005018860]\|not provided [RCV002266974]\|not specified [RCV000503087]	uncertain significance	16	13926568	13926568	Human	1	name
13473811	CV465045	single nucleotide variant	NM_005236.3(ERCC4):c.325G>A (p.Ala109Thr)	Xeroderma pigmentosum [RCV002257839]\|Xeroderma pigmentosum, group F [RCV000547965]\|Xeroderma pigmentosum, group F [RCV001117537]\|not provided [RCV001569666]\|not specified [RCV001821617]	likely benign\|uncertain significance	16	13922148	13922148	Human	2	name
13494843	CV465053	single nucleotide variant	NM_005236.3(ERCC4):c.532G>T (p.Val178Leu)	Xeroderma pigmentosum, group F [RCV000536696]\|Xeroderma pigmentosum, group F [RCV001121126]\|not provided [RCV001764609]\|not specified [RCV001821618]	uncertain significance	16	13926704	13926704	Human	1	name
13623815	CV529771	single nucleotide variant	NM_005236.3(ERCC4):c.875G>A (p.Arg292Gln)	Xeroderma pigmentosum, group F [RCV000651474]\|Xeroderma pigmentosum, group F [RCV005392244]	uncertain significance	16	13930792	13930792	Human	1	name
13806121	CV567671	single nucleotide variant	NM_005236.3(ERCC4):c.413G>A (p.Arg138Lys)	Xeroderma pigmentosum, group F [RCV000686055]	uncertain significance	16	13926585	13926585	Human	1	name
13801739	CV567677	single nucleotide variant	NM_005236.3(ERCC4):c.890A>G (p.Tyr297Cys)	Xeroderma pigmentosum, group F [RCV000697984]	uncertain significance	16	13930807	13930807	Human	1	name
14730090	CV643909	single nucleotide variant	NM_005236.3(ERCC4):c.703G>A (p.Ala235Thr)	Inborn genetic diseases [RCV002534657]\|Xeroderma pigmentosum, group F [RCV000800805]\|Xeroderma pigmentosum, group F [RCV002495066]\|not provided [RCV003238225]\|not specified [RCV001816859]	uncertain significance	16	13928146	13928146	Human	2	name
14718747	CV643910	single nucleotide variant	NM_005236.3(ERCC4):c.790A>G (p.Lys264Glu)	Xeroderma pigmentosum, group F [RCV000812329]	uncertain significance	16	13928233	13928233	Human	1	name
14704598	CV643911	single nucleotide variant	NM_005236.3(ERCC4):c.798C>G (p.Ile266Met)	Fanconi anemia complementation group Q [RCV001294110]\|Xeroderma pigmentosum, group F [RCV000807809]	uncertain significance	16	13930715	13930715	Human	2	name
15122257	CV684573	single nucleotide variant	NM_005236.3(ERCC4):c.503C>T (p.Ala168Val)	Fanconi anemia complementation group Q [RCV001292967]\|Inborn genetic diseases [RCV002536230]\|Xeroderma pigmentosum, group F [RCV000862022]\|not provided [RCV005231406]	likely benign\|uncertain significance	16	13926675	13926675	Human	3	name
8616644	CV70484	single nucleotide variant	NM_005236.3(ERCC4):c.689T>C (p.Leu230Pro)	Fanconi anemia complementation group Q [RCV000049247]	pathogenic	16	13928132	13928132	Human	1	name
8616645	CV70485	single nucleotide variant	NM_005236.3(ERCC4):c.706T>C (p.Cys236Arg)	Xeroderma pigmentosum, group F [RCV004814985]\|Xeroderma pigmentosum, type F/Cockayne syndrome [RCV000049248]\|not provided [RCV001568088]	pathogenic\|likely pathogenic	16	13928149	13928149	Human	1	name
21075349	CV797244	single nucleotide variant	NM_005236.3(ERCC4):c.473G>A (p.Arg158His)	Xeroderma pigmentosum, group F [RCV001119141]\|Xeroderma pigmentosum, group F [RCV002481776]\|not provided [RCV000996214]	uncertain significance	16	13926645	13926645	Human	1	name
26908819	CV843095	single nucleotide variant	NM_005236.3(ERCC4):c.499A>G (p.Asn167Asp)	Xeroderma pigmentosum, group F [RCV001038391]	uncertain significance	16	13926671	13926671	Human	1	name
26923421	CV843096	single nucleotide variant	NM_005236.3(ERCC4):c.751G>A (p.Asp251Asn)	Xeroderma pigmentosum, group F [RCV001063955]	uncertain significance	16	13928194	13928194	Human	1	name
26900340	CV843097	single nucleotide variant	NM_005236.3(ERCC4):c.934T>G (p.Ser312Ala)	Xeroderma pigmentosum, group F [RCV001071245]\|Xeroderma pigmentosum, group F [RCV002497483]\|not provided [RCV005423850]	uncertain significance	16	13930851	13930851	Human	1	name
28880465	CV874635	single nucleotide variant	NM_005236.3(ERCC4):c.367A>G (p.Ile123Val)	Xeroderma pigmentosum, group F [RCV001117538]	uncertain significance	16	13922190	13922190	Human	1	name
28891842	CV874636	single nucleotide variant	NM_005236.3(ERCC4):c.728A>G (p.His243Arg)	Inborn genetic diseases [RCV002556605]\|Xeroderma pigmentosum, group F [RCV001121127]\|Xeroderma pigmentosum, group F [RCV005021457]\|Xeroderma pigmentosum, group F [RCV005213459]	uncertain significance	16	13928171	13928171	Human	2	name
34889032	CV917872	single nucleotide variant	NM_005236.3(ERCC4):c.448C>T (p.Arg150Cys)	Xeroderma pigmentosum, group F [RCV002561023]\|not provided [RCV001194775]	uncertain significance	16	13926620	13926620	Human	1	name
34889043	CV917876	single nucleotide variant	NM_005236.3(ERCC4):c.800G>A (p.Arg267His)	Xeroderma pigmentosum, group F [RCV001863072]\|not provided [RCV001194779]	uncertain significance	16	13930717	13930717	Human	1	name
34889051	CV917878	deletion	NM_005236.3(ERCC4):c.2291del (p.Ser764fs)	not provided [RCV001194782]	uncertain significance	16	13947887	13947887	Human		name
38488885	CV927560	single nucleotide variant	NM_005236.3(ERCC4):c.484A>G (p.Lys162Glu)	Xeroderma pigmentosum, group F [RCV001221247]	uncertain significance	16	13926656	13926656	Human	1	name
38487250	CV949164	single nucleotide variant	NM_005236.3(ERCC4):c.991T>A (p.Ser331Thr)	Fanconi anemia complementation group Q [RCV001294210]\|Xeroderma pigmentosum, group F [RCV001237489]	uncertain significance	16	13932174	13932174	Human	2	name
38493454	CV957624	single nucleotide variant	NM_005236.3(ERCC4):c.809T>C (p.Leu270Pro)	Xeroderma pigmentosum, group F [RCV001240695]	uncertain significance	16	13930726	13930726	Human	1	name
40890164	CV975430	duplication	NM_005236.3(ERCC4):c.1069dup (p.Ile357fs)	not provided [RCV001268774]	pathogenic	16	13932246	13932247	Human		name
126753893	CV996587	single nucleotide variant	NM_005236.3(ERCC4):c.326C>T (p.Ala109Val)	Xeroderma pigmentosum, group F [RCV001307500]	uncertain significance	16	13922149	13922149	Human	1	name
126738386	CV996588	single nucleotide variant	NM_005236.3(ERCC4):c.800G>T (p.Arg267Leu)	Xeroderma pigmentosum, group F [RCV001304992]	uncertain significance	16	13930717	13930717	Human	1	name
126748002	CV996589	single nucleotide variant	NM_005236.3(ERCC4):c.913A>T (p.Thr305Ser)	Xeroderma pigmentosum, group F [RCV001306348]	uncertain significance	16	13930830	13930830	Human	1	name
126732133	CV996590	single nucleotide variant	NM_005236.3(ERCC4):c.947C>T (p.Thr316Met)	Xeroderma pigmentosum [RCV002258184]\|Xeroderma pigmentosum, group F [RCV001294508]	uncertain significance	16	13930864	13930864	Human	2	name
126751227	CV1011831	single nucleotide variant	NM_005236.3(ERCC4):c.1102G>A (p.Glu368Lys)	Inborn genetic diseases [RCV002545088]\|Xeroderma pigmentosum [RCV002258194]\|Xeroderma pigmentosum, group F [RCV001316070]\|Xeroderma pigmentosum, group F [RCV005014395]\|Xeroderma pigmentosum, group F [RCV005055165]\|not provided [RCV003145559]	uncertain significance	16	13932285	13932285	Human	3	name
126743250	CV1011833	single nucleotide variant	NM_005236.3(ERCC4):c.2308A>T (p.Thr770Ser)	Xeroderma pigmentosum, group F [RCV001325597]	uncertain significance	16	13947904	13947904	Human	1	name
126762811	CV1032340	single nucleotide variant	NM_005236.3(ERCC4):c.1336G>T (p.Ala446Ser)	Fanconi anemia complementation group Q [RCV003154003]\|Xeroderma pigmentosum, group F [RCV001341080]\|Xeroderma pigmentosum, group F [RCV005055166]	uncertain significance	16	13935268	13935268	Human	2	name
126761922	CV1032341	single nucleotide variant	NM_005236.3(ERCC4):c.1549G>A (p.Glu517Lys)	Xeroderma pigmentosum, group F [RCV001340828]\|not provided [RCV003145585]	uncertain significance	16	13935481	13935481	Human	1	name
126749167	CV1032342	single nucleotide variant	NM_005236.3(ERCC4):c.1975G>A (p.Gly659Ser)	Xeroderma pigmentosum, group F [RCV001337796]	uncertain significance	16	13944793	13944793	Human	1	name
126909979	CV1038380	single nucleotide variant	NM_005236.3(ERCC4):c.1544G>A (p.Arg515His)	Inborn genetic diseases [RCV002548497]\|Xeroderma pigmentosum, group F [RCV001871916]\|not provided [RCV001354216]	uncertain significance	16	13935476	13935476	Human	2	name
126912576	CV1038381	single nucleotide variant	NM_005236.3(ERCC4):c.1845G>C (p.Glu615Asp)	not provided [RCV001356629]	uncertain significance	16	13937799	13937799	Human		name
126917218	CV1049321	single nucleotide variant	NM_005236.3(ERCC4):c.1027G>A (p.Val343Ile)	Xeroderma pigmentosum, group F [RCV001361039]	uncertain significance	16	13932210	13932210	Human	1	name
126924696	CV1049322	single nucleotide variant	NM_005236.3(ERCC4):c.1031A>G (p.Tyr344Cys)	Xeroderma pigmentosum, group F [RCV001367325]	uncertain significance	16	13932214	13932214	Human	1	name
126921124	CV1049323	single nucleotide variant	NM_005236.3(ERCC4):c.1484C>T (p.Thr495Ile)	Xeroderma pigmentosum, group F [RCV001374207]	uncertain significance	16	13935416	13935416	Human	1	name
126915155	CV1049324	single nucleotide variant	NM_005236.3(ERCC4):c.1799G>A (p.Gly600Glu)	Inborn genetic diseases [RCV002547729]\|Xeroderma pigmentosum, group F [RCV001359826]	uncertain significance	16	13935731	13935731	Human	2	name
126916856	CV1049325	single nucleotide variant	NM_005236.3(ERCC4):c.1871G>A (p.Arg624Gln)	Fanconi anemia complementation group Q [RCV004789544]\|Xeroderma pigmentosum, group F [RCV001360826]	uncertain significance	16	13937825	13937825	Human	2	name
127234687	CV1065883	single nucleotide variant	NM_005236.3(ERCC4):c.2087C>T (p.Pro696Leu)	Fanconi anemia complementation group Q [RCV001788469]\|XFE progeroid syndrome [RCV001391664]\|Xeroderma pigmentosum, group F [RCV001849516]\|Xeroderma pigmentosum, group F [RCV003771270]\|Xeroderma pigmentosum, group F [RCV005014552]	uncertain significance	16	13947683	13947683	Human	3	name
150528435	CV1305879	single nucleotide variant	NM_005236.3(ERCC4):c.1493T>C (p.Val498Ala)	Xeroderma pigmentosum, group F [RCV001789790]\|not provided [RCV001755281]	uncertain significance	16	13935425	13935425	Human	1	name
150550567	CV1308277	single nucleotide variant	NM_005236.3(ERCC4):c.2323T>G (p.Leu775Val)	not provided [RCV001753268]	uncertain significance	16	13947919	13947919	Human		name
150548251	CV1310126	single nucleotide variant	NM_005236.3(ERCC4):c.2726T>C (p.Val909Ala)	not provided [RCV003238124]	uncertain significance	16	13948322	13948322	Human		name
150548253	CV1310127	single nucleotide variant	NM_005236.3(ERCC4):c.2339C>G (p.Ser780Cys)	not provided [RCV003238125]	uncertain significance	16	13947935	13947935	Human		name
150548255	CV1310129	single nucleotide variant	NM_005236.3(ERCC4):c.2303C>G (p.Ser768Cys)	not provided [RCV003238127]	uncertain significance	16	13947899	13947899	Human		name
150548257	CV1310130	single nucleotide variant	NM_005236.3(ERCC4):c.2238C>G (p.Ile746Met)	not provided [RCV003238128]	uncertain significance	16	13947834	13947834	Human		name
150548260	CV1310132	single nucleotide variant	NM_005236.3(ERCC4):c.1976G>A (p.Gly659Asp)	Inborn genetic diseases [RCV004980685]\|Xeroderma pigmentosum, group F [RCV003772105]\|not provided [RCV003238130]	uncertain significance	16	13944794	13944794	Human	2	name
150548261	CV1310133	single nucleotide variant	NM_005236.3(ERCC4):c.1655C>T (p.Thr552Ile)	Xeroderma pigmentosum, group F [RCV001885122]\|not provided [RCV003238131]	uncertain significance	16	13935587	13935587	Human	1	name
150548264	CV1310135	single nucleotide variant	NM_005236.3(ERCC4):c.1597G>A (p.Glu533Lys)	not provided [RCV003238133]	uncertain significance	16	13935529	13935529	Human		name
150548265	CV1310136	single nucleotide variant	NM_005236.3(ERCC4):c.1162T>G (p.Leu388Val)	not provided [RCV003238134]	uncertain significance	16	13934251	13934251	Human		name
150548267	CV1310137	single nucleotide variant	NM_005236.3(ERCC4):c.1009A>G (p.Ile337Val)	Xeroderma pigmentosum, group F [RCV005213590]\|not provided [RCV003238135]	uncertain significance	16	13932192	13932192	Human	1	name
150557336	CV1310723	single nucleotide variant	NM_005236.3(ERCC4):c.1575C>G (p.Cys525Trp)	Xeroderma pigmentosum, group F [RCV002034512]\|not provided [RCV001776457]	uncertain significance	16	13935507	13935507	Human	1	name
151353620	CV1327172	single nucleotide variant	NM_005236.3(ERCC4):c.2286C>G (p.Asp762Glu)	not specified [RCV001817115]	uncertain significance	16	13947882	13947882	Human		name
151355033	CV1328100	single nucleotide variant	NM_005236.3(ERCC4):c.1853G>A (p.Arg618His)	ERCC4-related disorder [RCV004752061]\|Fanconi anemia complementation group Q [RCV002471168]\|Inborn genetic diseases [RCV002542582]\|Xeroderma pigmentosum, group F [RCV001869700]\|not provided [RCV002074315]\|not specified [RCV001819576]	uncertain significance	16	13937807	13937807	Human	4	name , trait , alternate_id
151355335	CV1328402	single nucleotide variant	NM_005236.3(ERCC4):c.1990G>A (p.Asp664Asn)	not specified [RCV001820407]	uncertain significance	16	13944808	13944808	Human		name
151355344	CV1328411	single nucleotide variant	NM_005236.3(ERCC4):c.1192A>G (p.Ser398Gly)	not specified [RCV001820416]	uncertain significance	16	13934281	13934281	Human		name
151355495	CV1328562	single nucleotide variant	NM_005236.3(ERCC4):c.2744A>G (p.Lys915Arg)	Inborn genetic diseases [RCV005330921]\|not specified [RCV001820567]	likely benign\|uncertain significance	16	13948340	13948340	Human	1	name
151729072	CV1335299	single nucleotide variant	NM_005236.3(ERCC4):c.2283T>G (p.Phe761Leu)	not specified [RCV001844617]	uncertain significance	16	13947879	13947879	Human		name
151809272	CV1338682	single nucleotide variant	NM_005236.3(ERCC4):c.2009G>A (p.Arg670Gln)	Inborn genetic diseases [RCV002563537]\|Xeroderma pigmentosum, group F [RCV002012275]\|Xeroderma pigmentosum, group F [RCV002492093]	uncertain significance	16	13944827	13944827	Human	2	name
8659518	CV134454	single nucleotide variant	NM_005236.3(ERCC4):c.2624A>G (p.Glu875Gly)	Hereditary cancer-predisposing syndrome [RCV000210773]\|Xeroderma pigmentosum, group F [RCV000228558]\|Xeroderma pigmentosum, group F [RCV001117767]\|not provided [RCV000224428]\|not specified [RCV000116989]	benign\|likely benign\|conflicting interpretations of pathogenicity\|not provided	16	13948220	13948220	Human	2	name
151814176	CV1348956	single nucleotide variant	NM_005236.3(ERCC4):c.2723T>A (p.Val908Asp)	Xeroderma pigmentosum, group F [RCV001918916]	uncertain significance	16	13948319	13948319	Human		name
151810863	CV1350319	single nucleotide variant	NM_005236.3(ERCC4):c.1379A>T (p.Lys460Met)	Xeroderma pigmentosum, group F [RCV002048841]	uncertain significance	16	13935311	13935311	Human	1	name
151824805	CV1354498	single nucleotide variant	NM_005236.3(ERCC4):c.1577C>T (p.Pro526Leu)	Xeroderma pigmentosum, group F [RCV001869964]\|Xeroderma pigmentosum, group F [RCV002503390]	uncertain significance	16	13935509	13935509	Human	1	name
151743743	CV1367921	single nucleotide variant	NM_005236.3(ERCC4):c.2143G>T (p.Asp715Tyr)	Xeroderma pigmentosum, group F [RCV001871279]	uncertain significance	16	13947739	13947739	Human	1	name
151710827	CV1372563	single nucleotide variant	NM_005236.3(ERCC4):c.2156C>A (p.Thr719Asn)	Xeroderma pigmentosum, group F [RCV001964260]	uncertain significance	16	13947752	13947752	Human	1	name
151712469	CV1374703	single nucleotide variant	NM_005236.3(ERCC4):c.1746C>G (p.Asp582Glu)	Xeroderma pigmentosum, group F [RCV001908288]	uncertain significance	16	13935678	13935678	Human	1	name
8687421	CV137873	single nucleotide variant	NM_005236.3(ERCC4):c.1984T>C (p.Ser662Pro)	Xeroderma pigmentosum, group F [RCV000355415]\|Xeroderma pigmentosum, group F [RCV000466960]\|not provided [RCV001668272]\|not specified [RCV000120806]	benign\|likely benign\|not provided	16	13944802	13944802	Human	1	name
8687422	CV137874	single nucleotide variant	NM_005236.3(ERCC4):c.2617A>G (p.Ile873Val)	Xeroderma pigmentosum [RCV002258799]\|Xeroderma pigmentosum, group F [RCV001086582]\|Xeroderma pigmentosum, group F [RCV001117766]\|not provided [RCV000514744]\|not specified [RCV000120807]	benign\|likely benign\|not provided	16	13948213	13948213	Human	2	name
8687423	CV137875	single nucleotide variant	NM_005236.3(ERCC4):c.2477C>T (p.Ala826Val)	Xeroderma pigmentosum, group F [RCV001296332]\|Xeroderma pigmentosum, group F [RCV005016417]\|not provided [RCV005409619]\|not specified [RCV000120809]	uncertain significance\|not provided	16	13948073	13948073	Human	1	name
8687424	CV137876	single nucleotide variant	NM_005236.3(ERCC4):c.2545C>G (p.Gln849Glu)	Fanconi anemia complementation group Q [RCV002470769]\|Inborn genetic diseases [RCV002515858]\|Ovarian cancer [RCV003153389]\|Xeroderma pigmentosum [RCV002257428]\|Xeroderma pigmentosum, group F [RCV000535348]\|Xeroderma pigmentosum, group F [RCV003315749]\|not specified [RCV000120810]	benign\|likely benign\|uncertain significance\|not provided	16	13948141	13948141	Human	6	name
8687425	CV137877	single nucleotide variant	NM_005236.3(ERCC4):c.2579C>A (p.Ala860Asp)	Hereditary cancer-predisposing syndrome [RCV005251066]\|Hutchinson-Gilford syndrome [RCV001034545]\|Inborn genetic diseases [RCV002515859]\|Xeroderma pigmentosum [RCV002257429]\|Xeroderma pigmentosum, group F [RCV000476568]\|Xeroderma pigmentosum, group F [RCV000989535]\|not provided [RCV004704960]\|not sp ... (more) ecified [RCV000120811]	benign\|likely benign\|uncertain significance\|not provided	16	13948175	13948175	Human	5	name
8687426	CV137878	single nucleotide variant	NM_005236.3(ERCC4):c.2590C>T (p.Arg864Cys)	Xeroderma pigmentosum, group F [RCV001854622]\|not specified [RCV000120812]	uncertain significance\|not provided	16	13948186	13948186	Human	1	name
8687427	CV137879	single nucleotide variant	NM_005236.3(ERCC4):c.2608G>A (p.Val870Ile)	not specified [RCV000120813]	not provided	16	13948204	13948204	Human		name
8687428	CV137880	single nucleotide variant	NM_005236.3(ERCC4):c.2734G>A (p.Gly912Arg)	Xeroderma pigmentosum, group F [RCV000474309]\|Xeroderma pigmentosum, group F [RCV003315750]\|not provided [RCV001356061]\|not specified [RCV000120814]	likely benign\|uncertain significance\|not provided	16	13948330	13948330	Human	1	name
8687429	CV137881	single nucleotide variant	NM_005236.3(ERCC4):c.2117T>C (p.Ile706Thr)	ERCC4-related disorder [RCV003915202]\|Fanconi anemia complementation group Q [RCV001788036]\|Hereditary cancer-predisposing syndrome [RCV005251067]\|Inborn genetic diseases [RCV002515860]\|XFE progeroid syndrome [RCV001332584]\|Xeroderma pigmentosum [RCV002257430]\|X ... (more) eroderma pigmentosum, group F [RCV000463526]\|Xeroderma pigmentosum, group F [RCV001121237]\|not provided [RCV001354835]\|not specified [RCV000120815]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance\|not provided	16	13947713	13947713	Human	7	name , trait , alternate_id
8687435	CV137887	single nucleotide variant	NM_005236.3(ERCC4):c.1135C>T (p.Pro379Ser)	ERCC4-related disorder [RCV003925183]\|Hereditary cancer-predisposing syndrome [RCV005251068]\|Xeroderma pigmentosum [RCV002257432]\|Xeroderma pigmentosum, group F [RCV001083882]\|Xeroderma pigmentosum, group F [RCV001116216]\|Xeroderma pigmentosum, group F [RCV00322 ... (more) 4157]\|not provided [RCV000224511]\|not specified [RCV000120821]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance\|not provided	16	13934224	13934224	Human	7	name , trait , alternate_id
8687435	CV137887	single nucleotide variant	NM_005236.3(ERCC4):c.1135C>T (p.Pro379Ser)	ERCC4-related disorder [RCV003925183]\|Hereditary cancer-predisposing syndrome [RCV005251068]\|Xeroderma pigmentosum [RCV002257432]\|Xeroderma pigmentosum, group F [RCV001083882]\|Xeroderma pigmentosum, group F [RCV001116216]\|Xeroderma pigmentosum, group F [RCV00322 ... (more) 4157]\|not provided [RCV000224511]\|not specified [RCV000120821]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance\|not provided	16	13934224	13934225	Human	7	name , trait , alternate_id
8687436	CV137888	single nucleotide variant	NM_005236.3(ERCC4):c.1447A>G (p.Arg483Gly)	not specified [RCV000120822]	not provided	16	13935379	13935379	Human		name
8687437	CV137889	single nucleotide variant	NM_005236.3(ERCC4):c.1488A>T (p.Gln496His)	Hereditary cancer-predisposing syndrome [RCV005251069]\|Hutchinson-Gilford syndrome [RCV001034544]\|Inborn genetic diseases [RCV002515862]\|Xeroderma pigmentosum [RCV002258800]\|Xeroderma pigmentosum, group F [RCV000459235]\|Xeroderma pigmentosum, group F [RCV001117661]\|not provided [RCV004704961]\|not sp ... (more) ecified [RCV000120823]	benign\|likely benign\|uncertain significance\|not provided	16	13935420	13935420	Human	5	name
8687438	CV137890	single nucleotide variant	NM_005236.3(ERCC4):c.1657A>G (p.Ile553Val)	Fanconi anemia complementation group Q [RCV003474727]\|Xeroderma pigmentosum, group F [RCV001854623]\|not specified [RCV000120824]	uncertain significance\|not provided	16	13935589	13935589	Human	2	name
8687439	CV137891	single nucleotide variant	NM_005236.3(ERCC4):c.1415C>T (p.Pro472Leu)	Fanconi anemia complementation group Q [RCV001294104]\|Xeroderma pigmentosum, group F [RCV000651482]\|Xeroderma pigmentosum, group F [RCV005394415]\|not provided [RCV005229925]\|not specified [RCV000120825]	likely benign\|uncertain significance\|not provided	16	13935347	13935347	Human	2	name
8687440	CV137892	single nucleotide variant	NM_005236.3(ERCC4):c.1563C>G (p.Ser521Arg)	ERCC4-related disorder [RCV003975071]\|Fanconi anemia complementation group Q [RCV001292825]\|Hereditary cancer-predisposing syndrome [RCV005251070]\|Xeroderma pigmentosum [RCV002258801]\|Xeroderma pigmentosum, group F [RCV000343662]\|Xeroderma pigmentosum, group F [ ... (more) RCV000546465]\|Xeroderma pigmentosum, group F [RCV000764023]\|not provided [RCV001355143]\|not specified [RCV000120826]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance\|not provided	16	13935495	13935495	Human	6	name , trait , alternate_id
8687441	CV137893	single nucleotide variant	NM_005236.3(ERCC4):c.1711C>T (p.His571Tyr)	not specified [RCV000120827]	not provided	16	13935643	13935643	Human		name
8687442	CV137894	single nucleotide variant	NM_005236.3(ERCC4):c.1244G>A (p.Arg415Gln)	Xeroderma pigmentosum, group F [RCV000283278]\|Xeroderma pigmentosum, group F [RCV001521901]\|not provided [RCV001668273]\|not specified [RCV000120828]	benign\|likely benign\|not provided	16	13935176	13935176	Human	1	name
8687443	CV137895	single nucleotide variant	NM_005236.3(ERCC4):c.1523G>A (p.Gly508Glu)	not specified [RCV000120829]	not provided	16	13935455	13935455	Human		name
8687444	CV137896	single nucleotide variant	NM_005236.3(ERCC4):c.1606G>C (p.Val536Leu)	Fanconi anemia complementation group Q [RCV004786378]\|Xeroderma pigmentosum, group F [RCV000989533]\|Xeroderma pigmentosum, group F [RCV001854624]\|not specified [RCV000120830]	likely benign\|uncertain significance\|not provided	16	13935538	13935538	Human	2	name
8687445	CV137897	single nucleotide variant	NM_005236.3(ERCC4):c.1727G>C (p.Arg576Thr)	Fanconi anemia complementation group Q [RCV001294105]\|Hereditary cancer-predisposing syndrome [RCV005251071]\|Inborn genetic diseases [RCV002515863]\|Xeroderma pigmentosum [RCV002257433]\|Xeroderma pigmentosum, group F [RCV000651477]\|Xeroderma pigmentosum, group F [RCV001119237]\|Xeroderma pigmentosum, ... (more) group F [RCV002055332]\|not provided [RCV001357601]\|not specified [RCV000120831]	benign\|likely benign\|uncertain significance\|not provided	16	13935659	13935659	Human	5	name
151833022	CV1396264	single nucleotide variant	NM_005236.3(ERCC4):c.2105G>A (p.Arg702Gln)	Xeroderma pigmentosum, group F [RCV001901997]	uncertain significance	16	13947701	13947701	Human	1	name
151735854	CV1405818	single nucleotide variant	NM_005236.3(ERCC4):c.1268A>G (p.Tyr423Cys)	Xeroderma pigmentosum, group F [RCV001967608]\|Xeroderma pigmentosum, group F [RCV003230289]	uncertain significance	16	13935200	13935200	Human	1	name
151734056	CV1409471	single nucleotide variant	NM_005236.3(ERCC4):c.2674G>A (p.Ala892Thr)	Xeroderma pigmentosum, group F [RCV001911173]	uncertain significance	16	13948270	13948270	Human	1	name
151819962	CV1416079	single nucleotide variant	NM_005236.3(ERCC4):c.1251T>A (p.Cys417Ter)	Xeroderma pigmentosum, group F [RCV001919468]	pathogenic	16	13935183	13935183	Human	1	name
151787635	CV1416743	single nucleotide variant	NM_005236.3(ERCC4):c.1301G>A (p.Arg434Lys)	Xeroderma pigmentosum, group F [RCV001989752]	uncertain significance	16	13935233	13935233	Human	1	name
151861747	CV1423469	single nucleotide variant	NM_005236.3(ERCC4):c.1654A>G (p.Thr552Ala)	Xeroderma pigmentosum, group F [RCV001997218]	uncertain significance	16	13935586	13935586	Human	1	name
151762534	CV1423829	single nucleotide variant	NM_005236.3(ERCC4):c.1193G>A (p.Ser398Asn)	Xeroderma pigmentosum, group F [RCV002008043]	uncertain significance	16	13934282	13934282	Human	1	name
151716287	CV1448581	single nucleotide variant	NM_005236.3(ERCC4):c.1921G>C (p.Val641Leu)	Xeroderma pigmentosum, group F [RCV001965276]	uncertain significance	16	13944739	13944739	Human	1	name
151767711	CV1450683	single nucleotide variant	NM_005236.3(ERCC4):c.1522G>A (p.Gly508Arg)	Xeroderma pigmentosum, group F [RCV001929215]	uncertain significance	16	13935454	13935454	Human	1	name
151741320	CV1455427	single nucleotide variant	NM_005236.3(ERCC4):c.2026G>C (p.Glu676Gln)	Xeroderma pigmentosum, group F [RCV002005843]	uncertain significance	16	13947622	13947622	Human	1	name
151725034	CV1455592	single nucleotide variant	NM_005236.3(ERCC4):c.1004T>C (p.Met335Thr)	Xeroderma pigmentosum, group F [RCV002020673]	uncertain significance	16	13932187	13932187	Human	1	name
151865386	CV1455976	single nucleotide variant	NM_005236.3(ERCC4):c.2236A>G (p.Ile746Val)	Xeroderma pigmentosum, group F [RCV002034990]	uncertain significance	16	13947832	13947832	Human	1	name
151880207	CV1475349	single nucleotide variant	NM_005236.3(ERCC4):c.2108G>T (p.Gly703Val)	Xeroderma pigmentosum, group F [RCV001961549]	uncertain significance	16	13947704	13947704	Human	1	name
151871093	CV1476998	single nucleotide variant	NM_005236.3(ERCC4):c.2260C>T (p.Arg754Cys)	Xeroderma pigmentosum, group F [RCV001906489]	uncertain significance	16	13947856	13947856	Human	1	name
151732896	CV1477369	single nucleotide variant	NM_005236.3(ERCC4):c.2387C>T (p.Pro796Leu)	Xeroderma pigmentosum, group F [RCV001967301]	uncertain significance	16	13947983	13947983	Human	1	name
151876724	CV1479372	single nucleotide variant	NM_005236.3(ERCC4):c.1210C>T (p.Pro404Ser)	Xeroderma pigmentosum, group F [RCV001885951]\|Xeroderma pigmentosum, group F [RCV005016718]	uncertain significance	16	13934299	13934299	Human	1	name
151745494	CV1485068	single nucleotide variant	NM_005236.3(ERCC4):c.2452C>G (p.Gln818Glu)	Xeroderma pigmentosum, group F [RCV002006264]	uncertain significance	16	13948048	13948048	Human	1	name
151786287	CV1490033	single nucleotide variant	NM_005236.3(ERCC4):c.2129C>A (p.Thr710Asn)	Xeroderma pigmentosum, group F [RCV001930937]	uncertain significance	16	13947725	13947725	Human	1	name
151723047	CV1511778	single nucleotide variant	NM_005236.3(ERCC4):c.2619C>G (p.Ile873Met)	Xeroderma pigmentosum, group F [RCV002003930]	uncertain significance	16	13948215	13948215	Human	1	name
151886848	CV1514120	single nucleotide variant	NM_005236.3(ERCC4):c.2693A>G (p.Tyr898Cys)	Inborn genetic diseases [RCV004975938]\|Xeroderma pigmentosum, group F [RCV001962849]	uncertain significance	16	13948289	13948289	Human	2	name
152979435	CV1675559	single nucleotide variant	NM_005236.3(ERCC4):c.2164A>G (p.Met722Val)	Fanconi anemia complementation group Q [RCV002244149]	uncertain significance	16	13947760	13947760	Human	1	name
153002321	CV1685315	single nucleotide variant	NM_005236.3(ERCC4):c.1207G>C (p.Gly403Arg)	Xeroderma pigmentosum [RCV002258694]\|Xeroderma pigmentosum, group F [RCV003774792]	uncertain significance	16	13934296	13934296	Human	2	name
153002322	CV1685316	single nucleotide variant	NM_005236.3(ERCC4):c.1285G>A (p.Glu429Lys)	Xeroderma pigmentosum [RCV002258695]	uncertain significance	16	13935217	13935217	Human	1	name
153002324	CV1685318	single nucleotide variant	NM_005236.3(ERCC4):c.1831G>A (p.Gly611Arg)	Xeroderma pigmentosum [RCV002258697]\|Xeroderma pigmentosum, group F [RCV003774793]\|not specified [RCV003235693]	uncertain significance	16	13937785	13937785	Human	2	name
153002529	CV1685322	single nucleotide variant	NM_005236.3(ERCC4):c.2078G>T (p.Ser693Ile)	Xeroderma pigmentosum [RCV002259277]	uncertain significance	16	13947674	13947674	Human	1	name
153002326	CV1685323	single nucleotide variant	NM_005236.3(ERCC4):c.2200G>A (p.Gly734Ser)	Xeroderma pigmentosum [RCV002258699]\|Xeroderma pigmentosum, group F [RCV003095851]	uncertain significance	16	13947796	13947796	Human	2	name
153002328	CV1685324	single nucleotide variant	NM_005236.3(ERCC4):c.2392C>G (p.Leu798Val)	Xeroderma pigmentosum [RCV002258700]	uncertain significance	16	13947988	13947988	Human	1	name
155645983	CV1709347	single nucleotide variant	NM_005236.3(ERCC4):c.2594C>T (p.Ser865Phe)	Xeroderma pigmentosum, group F [RCV002292223]\|Xeroderma pigmentosum, group F [RCV005017187]	uncertain significance	16	13948190	13948190	Human	1	name
155645993	CV1709357	single nucleotide variant	NM_005236.3(ERCC4):c.2480C>A (p.Thr827Lys)	Fanconi anemia complementation group Q [RCV002292233]\|Xeroderma pigmentosum, group F [RCV003101682]\|Xeroderma pigmentosum, group F [RCV005017188]	uncertain significance	16	13948076	13948076	Human	2	name
155645996	CV1709360	single nucleotide variant	NM_005236.3(ERCC4):c.1541A>G (p.Tyr514Cys)	Fanconi anemia complementation group Q [RCV002292236]	uncertain significance	16	13935473	13935473	Human	1	name
155646008	CV1709373	single nucleotide variant	NM_005236.3(ERCC4):c.1793G>A (p.Arg598Lys)	Inborn genetic diseases [RCV003289502]\|Xeroderma pigmentosum, group F [RCV002292249]	uncertain significance	16	13935725	13935725	Human	2	name
155717063	CV1780560	single nucleotide variant	NM_005236.3(ERCC4):c.1838C>G (p.Ser613Ter)	not provided [RCV002306165]	likely pathogenic	16	13937792	13937792	Human		name
155730151	CV1780741	single nucleotide variant	NM_005236.3(ERCC4):c.1469G>A (p.Arg490Gln)	not specified [RCV002308525]	uncertain significance	16	13935401	13935401	Human		name
155794740	CV1860992	single nucleotide variant	NM_005236.3(ERCC4):c.2026G>T (p.Glu676Ter)	Xeroderma pigmentosum, group F [RCV002468705]	pathogenic	16	13947622	13947622	Human	1	name
155800440	CV1863589	single nucleotide variant	NM_005236.3(ERCC4):c.1554A>G (p.Ile518Met)	not provided [RCV002474012]	uncertain significance	16	13935486	13935486	Human		name
156000671	CV1872824	single nucleotide variant	NM_005236.3(ERCC4):c.1003A>G (p.Met335Val)	Xeroderma pigmentosum, group F [RCV003076568]\|Xeroderma pigmentosum, group F [RCV005019608]	uncertain significance	16	13932186	13932186	Human	1	name
156358250	CV1873831	single nucleotide variant	NM_005236.3(ERCC4):c.2633C>T (p.Ala878Val)	Xeroderma pigmentosum, group F [RCV003065420]	uncertain significance	16	13948229	13948229	Human	1	name
156388739	CV1875843	single nucleotide variant	NM_005236.3(ERCC4):c.2749T>C (p.Ter917Arg)	Xeroderma pigmentosum, group F [RCV003051091]	uncertain significance	16	13948345	13948345	Human	1	name
156355051	CV1880188	single nucleotide variant	NM_005236.3(ERCC4):c.1559G>A (p.Ser520Asn)	Xeroderma pigmentosum, group F [RCV003065166]	uncertain significance	16	13935491	13935491	Human	1	name
156300550	CV1890872	single nucleotide variant	NM_005236.3(ERCC4):c.1351A>G (p.Met451Val)	Xeroderma pigmentosum, group F [RCV003087907]	uncertain significance	16	13935283	13935283	Human	1	name
156405405	CV1893815	single nucleotide variant	NM_005236.3(ERCC4):c.1622A>G (p.Asp541Gly)	Xeroderma pigmentosum, group F [RCV003070012]	uncertain significance	16	13935554	13935554	Human	1	name
155954222	CV1896639	single nucleotide variant	NM_005236.3(ERCC4):c.1853G>T (p.Arg618Leu)	Xeroderma pigmentosum, group F [RCV003095494]	uncertain significance	16	13937807	13937807	Human	1	name
155982348	CV1896796	single nucleotide variant	NM_005236.3(ERCC4):c.2252A>G (p.Tyr751Cys)	Xeroderma pigmentosum, group F [RCV003097446]	uncertain significance	16	13947848	13947848	Human	1	name
156416771	CV1898115	single nucleotide variant	NM_005236.3(ERCC4):c.2641C>G (p.Gln881Glu)	Xeroderma pigmentosum, group F [RCV002610352]	uncertain significance	16	13948237	13948237	Human	1	name
156404679	CV1898360	single nucleotide variant	NM_005236.3(ERCC4):c.2369T>C (p.Leu790Pro)	Xeroderma pigmentosum, group F [RCV002585462]	uncertain significance	16	13947965	13947965	Human	1	name
156339161	CV1902511	single nucleotide variant	NM_005236.3(ERCC4):c.1339G>C (p.Glu447Gln)	Xeroderma pigmentosum, group F [RCV003090254]	uncertain significance	16	13935271	13935271	Human	1	name
156203777	CV1905750	single nucleotide variant	NM_005236.3(ERCC4):c.1787C>T (p.Ala596Val)	Xeroderma pigmentosum, group F [RCV003084315]	uncertain significance	16	13935719	13935719	Human	1	name
156219200	CV1924750	single nucleotide variant	NM_005236.3(ERCC4):c.1856A>G (p.Tyr619Cys)	Xeroderma pigmentosum, group F [RCV002644333]	uncertain significance	16	13937810	13937810	Human	1	name
156035026	CV1932656	single nucleotide variant	NM_005236.3(ERCC4):c.2317G>C (p.Gly773Arg)	Xeroderma pigmentosum, group F [RCV002637333]	uncertain significance	16	13947913	13947913	Human	1	name
156301999	CV1933541	single nucleotide variant	NM_005236.3(ERCC4):c.2654C>T (p.Thr885Met)	Xeroderma pigmentosum, group F [RCV002629294]	uncertain significance	16	13948250	13948250	Human	1	name
156222876	CV1934345	single nucleotide variant	NM_005236.3(ERCC4):c.2075G>A (p.Arg692Gln)	Xeroderma pigmentosum, group F [RCV002644480]	uncertain significance	16	13947671	13947671	Human	1	name
156440586	CV1943644	single nucleotide variant	NM_005236.3(ERCC4):c.2539G>T (p.Gly847Cys)	Xeroderma pigmentosum, group F [RCV003110622]	uncertain significance	16	13948135	13948135	Human	1	name
156159951	CV1977749	single nucleotide variant	NM_005236.3(ERCC4):c.2104C>T (p.Arg702Trp)	Xeroderma pigmentosum, group F [RCV002594431]	uncertain significance	16	13947700	13947700	Human	1	name
156011217	CV1991929	single nucleotide variant	NM_005236.3(ERCC4):c.1997C>T (p.Ser666Phe)	Xeroderma pigmentosum, group F [RCV002618914]	uncertain significance	16	13944815	13944815	Human	1	name
156088967	CV2008888	single nucleotide variant	NM_005236.3(ERCC4):c.1817A>T (p.Tyr606Phe)	Inborn genetic diseases [RCV002720479]\|Xeroderma pigmentosum, group F [RCV002706243]	uncertain significance	16	13937771	13937771	Human	2	name
156235843	CV2016212	single nucleotide variant	NM_005236.3(ERCC4):c.1883A>C (p.Glu628Ala)	Xeroderma pigmentosum, group F [RCV002701541]	uncertain significance	16	13937837	13937837	Human	1	name
155945838	CV2028865	single nucleotide variant	NM_005236.3(ERCC4):c.1694C>T (p.Ala565Val)	Xeroderma pigmentosum, group F [RCV002730395]	uncertain significance	16	13935626	13935626	Human	1	name
155967666	CV2034404	single nucleotide variant	NM_005236.3(ERCC4):c.1999A>G (p.Thr667Ala)	Xeroderma pigmentosum, group F [RCV002731471]	uncertain significance	16	13944817	13944817	Human	1	name
156264337	CV2059537	single nucleotide variant	NM_005236.3(ERCC4):c.1148C>T (p.Ala383Val)	Xeroderma pigmentosum, group F [RCV002806435]	uncertain significance	16	13934237	13934237	Human	1	name
156103846	CV2061113	single nucleotide variant	NM_005236.3(ERCC4):c.2707A>G (p.Thr903Ala)	Xeroderma pigmentosum, group F [RCV002824655]	uncertain significance	16	13948303	13948303	Human	1	name
156283816	CV2071377	single nucleotide variant	NM_005236.3(ERCC4):c.2612A>G (p.Lys871Arg)	Xeroderma pigmentosum, group F [RCV002856481]	uncertain significance	16	13948208	13948208	Human	1	name
156189911	CV2098947	single nucleotide variant	NM_005236.3(ERCC4):c.2650C>T (p.Leu884Phe)	Xeroderma pigmentosum, group F [RCV002917415]	uncertain significance	16	13948246	13948246	Human	1	name
156243918	CV2101583	single nucleotide variant	NM_005236.3(ERCC4):c.2062A>T (p.Met688Leu)	Xeroderma pigmentosum, group F [RCV002895012]	uncertain significance	16	13947658	13947658	Human	1	name
156323593	CV2108364	single nucleotide variant	NM_005236.3(ERCC4):c.2000C>A (p.Thr667Asn)	Inborn genetic diseases [RCV002937927]\|Xeroderma pigmentosum, group F [RCV002937928]	uncertain significance	16	13944818	13944818	Human	2	name
156028680	CV2109119	single nucleotide variant	NM_005236.3(ERCC4):c.1805C>T (p.Pro602Leu)	Inborn genetic diseases [RCV002909963]\|Xeroderma pigmentosum, group F [RCV002909962]	uncertain significance	16	13935737	13935737	Human	2	name
156098082	CV2110830	single nucleotide variant	NM_005236.3(ERCC4):c.1852C>T (p.Arg618Cys)	Xeroderma pigmentosum, group F [RCV002926938]	uncertain significance	16	13937806	13937806	Human	1	name
156210796	CV2114422	single nucleotide variant	NM_005236.3(ERCC4):c.2449A>C (p.Lys817Gln)	Xeroderma pigmentosum, group F [RCV002932054]	uncertain significance	16	13948045	13948045	Human	1	name
156353831	CV2118937	single nucleotide variant	NM_005236.3(ERCC4):c.2377C>G (p.Leu793Val)	Inborn genetic diseases [RCV004068137]\|Xeroderma pigmentosum, group F [RCV002966504]	uncertain significance	16	13947973	13947973	Human	2	name
156392230	CV2123386	single nucleotide variant	NM_005236.3(ERCC4):c.1366G>A (p.Glu456Lys)	Xeroderma pigmentosum, group F [RCV002944022]\|Xeroderma pigmentosum, group F [RCV003154265]	uncertain significance	16	13935298	13935298	Human	1	name
156029677	CV2131591	single nucleotide variant	NM_005236.3(ERCC4):c.1763T>C (p.Val588Ala)	ERCC4-related disorder [RCV004750800]\|Fanconi anemia complementation group Q [RCV003325243]\|Inborn genetic diseases [RCV002976549]\|Xeroderma pigmentosum, group F [RCV002976548]\|Xeroderma pigmentosum, group F [RCV005055207]	uncertain significance	16	13935695	13935695	Human	4	name , trait , alternate_id
156317925	CV2137847	single nucleotide variant	NM_005236.3(ERCC4):c.1762G>A (p.Val588Ile)	Fanconi anemia complementation group Q [RCV003325242]\|Inborn genetic diseases [RCV003170767]\|Xeroderma pigmentosum, group F [RCV002963014]\|not provided [RCV003146704]	uncertain significance	16	13935694	13935694	Human	3	name
156316128	CV2140278	single nucleotide variant	NM_005236.3(ERCC4):c.1633G>C (p.Gly545Arg)	Xeroderma pigmentosum, group F [RCV003011395]	uncertain significance	16	13935565	13935565	Human	1	name
155944754	CV2143222	single nucleotide variant	NM_005236.3(ERCC4):c.1346T>C (p.Val449Ala)	Xeroderma pigmentosum, group F [RCV002994277]	uncertain significance	16	13935278	13935278	Human	1	name
156358464	CV2162233	single nucleotide variant	NM_005236.3(ERCC4):c.2491A>G (p.Ile831Val)	Xeroderma pigmentosum, group F [RCV003031395]	uncertain significance	16	13948087	13948087	Human	1	name
156075408	CV2165507	single nucleotide variant	NM_005236.3(ERCC4):c.2123C>T (p.Pro708Leu)	Xeroderma pigmentosum, group F [RCV003037701]	uncertain significance	16	13947719	13947719	Human	1	name
156226771	CV2216043	single nucleotide variant	NM_005236.3(ERCC4):c.1811G>C (p.Arg604Thr)	Inborn genetic diseases [RCV002712493]	uncertain significance	16	13935743	13935743	Human	1	name
156047527	CV2244871	single nucleotide variant	NM_005236.3(ERCC4):c.2561A>G (p.Lys854Arg)	Inborn genetic diseases [RCV002781820]	uncertain significance	16	13948157	13948157	Human	1	name
156368317	CV2266981	single nucleotide variant	NM_005236.3(ERCC4):c.1013A>G (p.Asn338Ser)	Inborn genetic diseases [RCV002813894]	uncertain significance	16	13932196	13932196	Human	1	name
156163244	CV2305488	single nucleotide variant	NM_005236.3(ERCC4):c.2708C>G (p.Thr903Ser)	Inborn genetic diseases [RCV002916126]	uncertain significance	16	13948304	13948304	Human	1	name
156035042	CV2376733	single nucleotide variant	NM_005236.3(ERCC4):c.2504C>A (p.Ser835Tyr)	Inborn genetic diseases [RCV002703940]	uncertain significance	16	13948100	13948100	Human	1	name
243058757	CV2409939	single nucleotide variant	NM_005236.3(ERCC4):c.1477A>C (p.Thr493Pro)	not provided [RCV003147113]	uncertain significance	16	13935409	13935409	Human		name
243058764	CV2409940	single nucleotide variant	NM_005236.3(ERCC4):c.1459A>G (p.Lys487Glu)	not provided [RCV003147114]	uncertain significance	16	13935391	13935391	Human		name
243058767	CV2409941	single nucleotide variant	NM_005236.3(ERCC4):c.1298T>G (p.Leu433Trp)	not provided [RCV003147115]	uncertain significance	16	13935230	13935230	Human		name
243059058	CV2409942	single nucleotide variant	NM_005236.3(ERCC4):c.2017G>A (p.Gly673Ser)	not provided [RCV003147116]	uncertain significance	16	13944835	13944835	Human		name
243055462	CV2419121	single nucleotide variant	NM_005236.3(ERCC4):c.1771C>G (p.Leu591Val)	Ovarian cancer [RCV003154805]	likely pathogenic	16	13935703	13935703	Human	2	name
329954287	CV2668700	single nucleotide variant	NM_005236.3(ERCC4):c.1662C>G (p.Ile554Met)	Xeroderma pigmentosum, group F [RCV003230329]	uncertain significance	16	13935594	13935594	Human	1	name
401942073	CV2834344	single nucleotide variant	NM_005236.3(ERCC4):c.1283C>T (p.Ala428Val)	Fanconi anemia complementation group Q [RCV003467943]\|Xeroderma pigmentosum, group F [RCV003779014]	uncertain significance	16	13935215	13935215	Human	2	name
405028792	CV3082532	single nucleotide variant	NM_005236.3(ERCC4):c.2656A>G (p.Ser886Gly)	Xeroderma pigmentosum, group F [RCV003785983]\|Xeroderma pigmentosum, group F [RCV005014952]	uncertain significance	16	13948252	13948252	Human	1	name
404985575	CV3083524	single nucleotide variant	NM_005236.3(ERCC4):c.2471A>T (p.Asp824Val)	Xeroderma pigmentosum, group F [RCV003781874]	uncertain significance	16	13948067	13948067	Human	1	name
404986853	CV3083687	single nucleotide variant	NM_005236.3(ERCC4):c.1204G>C (p.Gly402Arg)	Xeroderma pigmentosum, group F [RCV003782040]	uncertain significance	16	13934293	13934293	Human	1	name
405050245	CV3084582	single nucleotide variant	NM_005236.3(ERCC4):c.2585A>G (p.Asn862Ser)	Xeroderma pigmentosum, group F [RCV003797989]	uncertain significance	16	13948181	13948181	Human	1	name
405052766	CV3084748	single nucleotide variant	NM_005236.3(ERCC4):c.1840A>G (p.Thr614Ala)	Xeroderma pigmentosum, group F [RCV003798155]	uncertain significance	16	13937794	13937794	Human	1	name
404984133	CV3087214	single nucleotide variant	NM_005236.3(ERCC4):c.1376C>A (p.Ser459Ter)	Xeroderma pigmentosum, group F [RCV003781677]\|Xeroderma pigmentosum, group F [RCV005014966]\|not provided [RCV005242434]	pathogenic\|likely pathogenic	16	13935308	13935308	Human	1	name
405019633	CV3087911	single nucleotide variant	NM_005236.3(ERCC4):c.1400A>G (p.Lys467Arg)	Xeroderma pigmentosum, group F [RCV003795471]	uncertain significance	16	13935332	13935332	Human	1	name
402513498	CV3089446	single nucleotide variant	NM_005236.3(ERCC4):c.2386C>A (p.Pro796Thr)	Xeroderma pigmentosum, group F [RCV003780479]	uncertain significance	16	13947982	13947982	Human	1	name
402513804	CV3089471	single nucleotide variant	NM_005236.3(ERCC4):c.1235G>A (p.Ser412Asn)	Xeroderma pigmentosum, group F [RCV003780504]\|Xeroderma pigmentosum, group F [RCV005055228]	uncertain significance	16	13935167	13935167	Human	1	name
402515020	CV3089759	single nucleotide variant	NM_005236.3(ERCC4):c.1828T>C (p.Tyr610His)	Xeroderma pigmentosum, group F [RCV003780634]	uncertain significance	16	13937782	13937782	Human	1	name
402504709	CV3090220	single nucleotide variant	NM_005236.3(ERCC4):c.2524G>T (p.Glu842Ter)	Xeroderma pigmentosum, group F [RCV003788988]	uncertain significance	16	13948120	13948120	Human	1	name
402487413	CV3090512	single nucleotide variant	NM_005236.3(ERCC4):c.1693G>A (p.Ala565Thr)	Xeroderma pigmentosum, group F [RCV003787174]\|Xeroderma pigmentosum, group F [RCV005014964]	uncertain significance	16	13935625	13935625	Human	1	name
404991451	CV3091303	single nucleotide variant	NM_005236.3(ERCC4):c.2277T>G (p.Ile759Met)	Xeroderma pigmentosum, group F [RCV003792776]	uncertain significance	16	13947873	13947873	Human	1	name
402520025	CV3091902	single nucleotide variant	NM_005236.3(ERCC4):c.1630T>C (p.Phe544Leu)	Xeroderma pigmentosum, group F [RCV003790348]	uncertain significance	16	13935562	13935562	Human	1	name
402499024	CV3092938	single nucleotide variant	NM_005236.3(ERCC4):c.1902A>G (p.Ile634Met)	XFE progeroid syndrome [RCV004784178]\|Xeroderma pigmentosum, group F [RCV003788402]	likely pathogenic\|uncertain significance	16	13937856	13937856	Human	2	name
402482726	CV3093356	single nucleotide variant	NM_005236.3(ERCC4):c.1732G>A (p.Val578Met)	Xeroderma pigmentosum, group F [RCV003786710]	uncertain significance	16	13935664	13935664	Human	1	name
405016359	CV3094003	single nucleotide variant	NM_005236.3(ERCC4):c.2110A>G (p.Ile704Val)	Xeroderma pigmentosum, group F [RCV003784853]	uncertain significance	16	13947706	13947706	Human	1	name
405016396	CV3094007	single nucleotide variant	NM_005236.3(ERCC4):c.1404A>C (p.Arg468Ser)	Xeroderma pigmentosum, group F [RCV003784857]	uncertain significance	16	13935336	13935336	Human	1	name
404990608	CV3094681	single nucleotide variant	NM_005236.3(ERCC4):c.1900A>G (p.Ile634Val)	Xeroderma pigmentosum, group F [RCV003792695]	uncertain significance	16	13937854	13937854	Human	1	name
405028017	CV3098136	single nucleotide variant	NM_005236.3(ERCC4):c.1066A>G (p.Lys356Glu)	Xeroderma pigmentosum, group F [RCV003806429]	uncertain significance	16	13932249	13932249	Human	1	name
404982665	CV3100124	single nucleotide variant	NM_005236.3(ERCC4):c.2227A>G (p.Ser743Gly)	Xeroderma pigmentosum, group F [RCV003791791]	uncertain significance	16	13947823	13947823	Human	1	name
405152081	CV3101927	single nucleotide variant	NM_005236.3(ERCC4):c.1376C>T (p.Ser459Leu)	Xeroderma pigmentosum, group F [RCV003801531]	uncertain significance	16	13935308	13935308	Human	1	name
405045711	CV3103938	single nucleotide variant	NM_005236.3(ERCC4):c.2419C>A (p.His807Asn)	Xeroderma pigmentosum, group F [RCV003797656]	uncertain significance	16	13948015	13948015	Human	1	name
405172478	CV3104657	single nucleotide variant	NM_005236.3(ERCC4):c.1289C>A (p.Ala430Asp)	Xeroderma pigmentosum, group F [RCV003803155]	uncertain significance	16	13935221	13935221	Human	1	name
405053500	CV3107701	single nucleotide variant	NM_005236.3(ERCC4):c.2050A>G (p.Ile684Val)	Xeroderma pigmentosum, group F [RCV003808446]	uncertain significance	16	13947646	13947646	Human	1	name
405058973	CV3108284	single nucleotide variant	NM_005236.3(ERCC4):c.2191G>A (p.Asp731Asn)	Xeroderma pigmentosum, group F [RCV003808862]	uncertain significance	16	13947787	13947787	Human	1	name
405064459	CV3108878	single nucleotide variant	NM_005236.3(ERCC4):c.2369T>G (p.Leu790Arg)	Xeroderma pigmentosum, group F [RCV003809288]	uncertain significance	16	13947965	13947965	Human	1	name
8600266	CV31619	single nucleotide variant	NM_005236.3(ERCC4):c.2395C>T (p.Arg799Trp)	Breast carcinoma [RCV001262417]\|Carcinoma of pancreas [RCV001391196]\|ERCC4-related disorder [RCV003924841]\|Fanconi anemia complementation group Q [RCV001787804]\|Hutchinson-Gilford syndrome [RCV001034542]\|XFE progeroid syndrome [RCV000766208]\|Xeroderma pigmentosu ... (more) m [RCV002257360]\|Xeroderma pigmentosum, group F [RCV000018048]\|Xeroderma pigmentosum, group F [RCV000467658]\|Xeroderma pigmentosum, group F [RCV000768209]\|not provided [RCV000415873]\|not specified [RCV000120808]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance\|not provided	16	13947991	13947991	Human	9	name , trait , alternate_id
11663458	CV324123	single nucleotide variant	NM_005236.3(ERCC4):c.1647A>C (p.Glu549Asp)	Xeroderma pigmentosum, group F [RCV000396319]	uncertain significance	16	13935579	13935579	Human	1	name
11604714	CV324160	single nucleotide variant	NM_005236.3(ERCC4):c.1942G>A (p.Gly648Ser)	Xeroderma pigmentosum, group F [RCV000312288]\|Xeroderma pigmentosum, group F [RCV002522812]\|not provided [RCV002269267]	uncertain significance	16	13944760	13944760	Human	1	name
11603184	CV324161	single nucleotide variant	NM_005236.3(ERCC4):c.2266G>A (p.Val756Met)	Xeroderma pigmentosum, group F [RCV000297698]\|Xeroderma pigmentosum, group F [RCV001859895]	uncertain significance	16	13947862	13947862	Human	1	name
11645712	CV324162	single nucleotide variant	NM_005236.3(ERCC4):c.2334G>C (p.Glu778Asp)	Xeroderma pigmentosum, group F [RCV000267041]	uncertain significance	16	13947930	13947930	Human	1	name
405740671	CV3259389	single nucleotide variant	NM_005236.3(ERCC4):c.1391A>G (p.Lys464Arg)	Inborn genetic diseases [RCV004380527]	uncertain significance	16	13935323	13935323	Human	1	name
405740687	CV3259391	single nucleotide variant	NM_005236.3(ERCC4):c.1826T>C (p.Ile609Thr)	Inborn genetic diseases [RCV004380529]	uncertain significance	16	13937780	13937780	Human	1	name
405740693	CV3259392	single nucleotide variant	NM_005236.3(ERCC4):c.2432A>G (p.Glu811Gly)	Inborn genetic diseases [RCV004380530]	uncertain significance	16	13948028	13948028	Human	1	name
405740702	CV3259393	single nucleotide variant	NM_005236.3(ERCC4):c.2454A>C (p.Gln818His)	Inborn genetic diseases [RCV004380531]	uncertain significance	16	13948050	13948050	Human	1	name
405740707	CV3259394	single nucleotide variant	NM_005236.3(ERCC4):c.2494A>G (p.Thr832Ala)	Inborn genetic diseases [RCV004380532]	uncertain significance	16	13948090	13948090	Human	1	name
405740714	CV3259395	single nucleotide variant	NM_005236.3(ERCC4):c.2729C>T (p.Ser910Leu)	Inborn genetic diseases [RCV004380533]	uncertain significance	16	13948325	13948325	Human	1	name
11623970	CV333735	single nucleotide variant	NM_005236.3(ERCC4):c.1217A>G (p.Gln406Arg)	ERCC4-related disorder [RCV004751458]\|Xeroderma pigmentosum [RCV002257638]\|Xeroderma pigmentosum, group F [RCV000380080]\|Xeroderma pigmentosum, group F [RCV001850680]\|Xeroderma pigmentosum, group F [RCV002502235]	uncertain significance	16	13935149	13935149	Human	5	name , trait , alternate_id
11655073	CV340487	single nucleotide variant	NM_005236.3(ERCC4):c.1112A>G (p.Lys371Arg)	Xeroderma pigmentosum, group F [RCV000323079]	uncertain significance	16	13934201	13934201	Human	1	name
11650160	CV340488	single nucleotide variant	NM_005236.3(ERCC4):c.1463A>G (p.Lys488Arg)	Xeroderma pigmentosum, group F [RCV000291469]\|Xeroderma pigmentosum, group F [RCV003765845]	uncertain significance	16	13935395	13935395	Human	1	name
11616417	CV340492	single nucleotide variant	NM_005236.3(ERCC4):c.1676G>A (p.Gly559Asp)	Xeroderma pigmentosum, group F [RCV000294613]\|Xeroderma pigmentosum, group F [RCV001069081]\|Xeroderma pigmentosum, group F [RCV002487399]	uncertain significance	16	13935608	13935608	Human	1	name
11619669	CV340502	single nucleotide variant	NM_005236.3(ERCC4):c.2519A>C (p.Glu840Ala)	Xeroderma pigmentosum, group F [RCV000327964]	uncertain significance	16	13948115	13948115	Human	1	name
11662173	CV341866	single nucleotide variant	NM_005236.3(ERCC4):c.1432G>A (p.Ala478Thr)	Xeroderma pigmentosum, group F [RCV000383486]	uncertain significance	16	13935364	13935364	Human	1	name
11621716	CV341868	single nucleotide variant	NM_005236.3(ERCC4):c.1728A>T (p.Arg576Ser)	Fanconi anemia complementation group Q [RCV001292598]\|Xeroderma pigmentosum, group F [RCV000351813]\|Xeroderma pigmentosum, group F [RCV001049483]\|Xeroderma pigmentosum, group F [RCV002504085]	uncertain significance	16	13935660	13935660	Human	2	name
11622308	CV341882	single nucleotide variant	NM_005236.3(ERCC4):c.2500G>T (p.Asp834Tyr)	Xeroderma pigmentosum, group F [RCV000358179]\|Xeroderma pigmentosum, group F [RCV002522814]	uncertain significance	16	13948096	13948096	Human	1	name
407479988	CV3442050	single nucleotide variant	NM_005236.3(ERCC4):c.2064G>C (p.Met688Ile)	Inborn genetic diseases [RCV004617926]	uncertain significance	16	13947660	13947660	Human	1	name
408365348	CV3499818	single nucleotide variant	NM_005236.3(ERCC4):c.2406G>A (p.Trp802Ter)	not provided [RCV004721860]	uncertain significance	16	13948002	13948002	Human		name
408377893	CV3511241	single nucleotide variant	NM_005236.3(ERCC4):c.1948G>A (p.Asp650Asn)	ERCC4-related disorder [RCV004751182]	uncertain significance	16	13944766	13944766	Human		name , trait , alternate_id
408380608	CV3523603	single nucleotide variant	NM_005236.3(ERCC4):c.2743A>G (p.Lys915Glu)	not provided [RCV004766001]	uncertain significance	16	13948339	13948339	Human		name
596938221	CV3550014	single nucleotide variant	NM_005236.3(ERCC4):c.2138T>C (p.Val713Ala)	XFE progeroid syndrome [RCV004813318]	uncertain significance	16	13947734	13947734	Human	1	name
12743286	CV361574	single nucleotide variant	NM_005236.3(ERCC4):c.1489A>G (p.Met497Val)	not provided [RCV000416265]	uncertain significance	16	13935421	13935421	Human		name
597676969	CV3668096	single nucleotide variant	NM_005236.3(ERCC4):c.2259G>C (p.Lys753Asn)	Inborn genetic diseases [RCV004982130]	uncertain significance	16	13947855	13947855	Human	1	name
597676977	CV3668097	single nucleotide variant	NM_005236.3(ERCC4):c.2258A>G (p.Lys753Arg)	Inborn genetic diseases [RCV004982131]	uncertain significance	16	13947854	13947854	Human	1	name
597676987	CV3668098	single nucleotide variant	NM_005236.3(ERCC4):c.2324T>C (p.Leu775Ser)	Inborn genetic diseases [RCV004982132]	uncertain significance	16	13947920	13947920	Human	1	name
597677003	CV3668100	single nucleotide variant	NM_005236.3(ERCC4):c.1694C>G (p.Ala565Gly)	Inborn genetic diseases [RCV004982134]	uncertain significance	16	13935626	13935626	Human	1	name
597757711	CV3711346	single nucleotide variant	NM_005236.3(ERCC4):c.1349G>A (p.Trp450Ter)	Xeroderma pigmentosum, group F [RCV005017641]	pathogenic	16	13935281	13935281	Human	1	name
597757716	CV3711347	single nucleotide variant	NM_005236.3(ERCC4):c.1373G>T (p.Ser458Ile)	Xeroderma pigmentosum, group F [RCV005017642]	uncertain significance	16	13935305	13935305	Human	1	name
597757721	CV3711348	single nucleotide variant	NM_005236.3(ERCC4):c.1418A>G (p.Gln473Arg)	Xeroderma pigmentosum, group F [RCV005017643]	uncertain significance	16	13935350	13935350	Human	1	name
597757726	CV3711349	single nucleotide variant	NM_005236.3(ERCC4):c.1501C>A (p.Pro501Thr)	Xeroderma pigmentosum, group F [RCV005017644]	uncertain significance	16	13935433	13935433	Human	1	name
597757731	CV3711350	single nucleotide variant	NM_005236.3(ERCC4):c.1525G>A (p.Asp509Asn)	Xeroderma pigmentosum, group F [RCV005017645]	uncertain significance	16	13935457	13935457	Human	1	name
597757737	CV3711352	single nucleotide variant	NM_005236.3(ERCC4):c.1768C>G (p.Gln590Glu)	Xeroderma pigmentosum, group F [RCV005017647]	uncertain significance	16	13935700	13935700	Human	1	name
597757763	CV3711356	single nucleotide variant	NM_005236.3(ERCC4):c.2360A>G (p.Lys787Arg)	Xeroderma pigmentosum, group F [RCV005017652]	uncertain significance	16	13947956	13947956	Human	1	name
597757768	CV3711357	single nucleotide variant	NM_005236.3(ERCC4):c.2425A>G (p.Thr809Ala)	Xeroderma pigmentosum, group F [RCV005017653]	uncertain significance	16	13948021	13948021	Human	1	name
597921530	CV3865768	single nucleotide variant	NM_005236.3(ERCC4):c.2303C>T (p.Ser768Phe)	Xeroderma pigmentosum, group F [RCV005223574]	uncertain significance	16	13947899	13947899	Human	1	name
597838456	CV3866996	single nucleotide variant	NM_005236.3(ERCC4):c.2462C>T (p.Pro821Leu)	Xeroderma pigmentosum, group F [RCV005225988]	uncertain significance	16	13948058	13948058	Human	1	name
597891739	CV3867942	single nucleotide variant	NM_005236.3(ERCC4):c.2170G>A (p.Val724Met)	Xeroderma pigmentosum, group F [RCV005218970]	uncertain significance	16	13947766	13947766	Human	1	name
597880504	CV3868372	single nucleotide variant	NM_005236.3(ERCC4):c.2243T>A (p.Met748Lys)	Xeroderma pigmentosum, group F [RCV005217272]	uncertain significance	16	13947839	13947839	Human	1	name
597894961	CV3868715	single nucleotide variant	NM_005236.3(ERCC4):c.2426C>T (p.Thr809Met)	Xeroderma pigmentosum, group F [RCV005219421]	uncertain significance	16	13948022	13948022	Human	1	name
597868638	CV3869448	single nucleotide variant	NM_005236.3(ERCC4):c.2057T>C (p.Val686Ala)	Xeroderma pigmentosum, group F [RCV005215379]	uncertain significance	16	13947653	13947653	Human	1	name
597888692	CV3871180	single nucleotide variant	NM_005236.3(ERCC4):c.2596T>A (p.Leu866Met)	Xeroderma pigmentosum, group F [RCV005218512]	uncertain significance	16	13948192	13948192	Human	1	name
597879612	CV3872070	single nucleotide variant	NM_005236.3(ERCC4):c.1283C>A (p.Ala428Glu)	Xeroderma pigmentosum, group F [RCV005217122]	uncertain significance	16	13935215	13935215	Human	1	name
597848940	CV3872896	single nucleotide variant	NM_005236.3(ERCC4):c.1783A>G (p.Arg595Gly)	Xeroderma pigmentosum, group F [RCV005212533]	uncertain significance	16	13935715	13935715	Human	1	name
597841358	CV3873710	single nucleotide variant	NM_005236.3(ERCC4):c.2506G>A (p.Glu836Lys)	Xeroderma pigmentosum, group F [RCV005226537]	uncertain significance	16	13948102	13948102	Human	1	name
597836382	CV3874435	single nucleotide variant	NM_005236.3(ERCC4):c.2244G>A (p.Met748Ile)	Xeroderma pigmentosum, group F [RCV005210356]	uncertain significance	16	13947840	13947840	Human	1	name
597875462	CV3875073	single nucleotide variant	NM_005236.3(ERCC4):c.1993G>A (p.Val665Ile)	Xeroderma pigmentosum, group F [RCV005216549]	uncertain significance	16	13944811	13944811	Human	1	name
597863514	CV3875415	single nucleotide variant	NM_005236.3(ERCC4):c.1784G>C (p.Arg595Thr)	Xeroderma pigmentosum, group F [RCV005214592]	uncertain significance	16	13935716	13935716	Human	1	name
597836608	CV3875591	single nucleotide variant	NM_005236.3(ERCC4):c.2432A>T (p.Glu811Val)	Xeroderma pigmentosum, group F [RCV005225636]	uncertain significance	16	13948028	13948028	Human	1	name
597849659	CV3876872	single nucleotide variant	NM_005236.3(ERCC4):c.2215G>A (p.Gly739Ser)	Xeroderma pigmentosum, group F [RCV005228099]	uncertain significance	16	13947811	13947811	Human	1	name
597843954	CV3877678	single nucleotide variant	NM_005236.3(ERCC4):c.1303C>A (p.Leu435Ile)	Xeroderma pigmentosum, group F [RCV005227029]	uncertain significance	16	13935235	13935235	Human	1	name
597857438	CV3877796	single nucleotide variant	NM_005236.3(ERCC4):c.1981G>A (p.Ala661Thr)	Xeroderma pigmentosum, group F [RCV005229105]	uncertain significance	16	13944799	13944799	Human	1	name
597931195	CV3878556	single nucleotide variant	NM_005236.3(ERCC4):c.2183G>A (p.Ser728Asn)	Xeroderma pigmentosum, group F [RCV005224926]	uncertain significance	16	13947779	13947779	Human	1	name
597911907	CV3879606	single nucleotide variant	NM_005236.3(ERCC4):c.2261G>A (p.Arg754His)	Xeroderma pigmentosum, group F [RCV005222007]	uncertain significance	16	13947857	13947857	Human	1	name
597914918	CV3880202	single nucleotide variant	NM_005236.3(ERCC4):c.2423C>T (p.Ala808Val)	Xeroderma pigmentosum, group F [RCV005222442]	uncertain significance	16	13948019	13948019	Human	1	name
597860664	CV3880682	single nucleotide variant	NM_005236.3(ERCC4):c.2632G>T (p.Ala878Ser)	Fanconi anemia complementation group Q [RCV005229521]	uncertain significance	16	13948228	13948228	Human	1	name
598128023	CV3883039	single nucleotide variant	NM_005236.3(ERCC4):c.1622A>T (p.Asp541Val)	not provided [RCV005234572]	uncertain significance	16	13935554	13935554	Human		name
598170122	CV3961687	single nucleotide variant	NM_005236.3(ERCC4):c.2121A>C (p.Glu707Asp)	Inborn genetic diseases [RCV005330643]	uncertain significance	16	13947717	13947717	Human	1	name
598170125	CV3961688	single nucleotide variant	NM_005236.3(ERCC4):c.1069A>G (p.Ile357Val)	Inborn genetic diseases [RCV005330644]	uncertain significance	16	13932252	13932252	Human	1	name
598170131	CV3961690	single nucleotide variant	NM_005236.3(ERCC4):c.2705A>G (p.His902Arg)	Inborn genetic diseases [RCV005330646]	uncertain significance	16	13948301	13948301	Human	1	name
598198752	CV4007221	single nucleotide variant	NM_005236.3(ERCC4):c.2034T>G (p.Asn678Lys)	Xeroderma pigmentosum, group F [RCV005398049]	uncertain significance	16	13947630	13947630	Human	1	name
12905851	CV413430	single nucleotide variant	NM_005236.3(ERCC4):c.2218C>T (p.Arg740Cys)	Xeroderma pigmentosum, group F [RCV001205641]\|Xeroderma pigmentosum, group F [RCV002506183]\|not provided [RCV000488081]	uncertain significance	16	13947814	13947814	Human	1	name
13215667	CV429757	single nucleotide variant	NM_005236.3(ERCC4):c.1110A>T (p.Lys370Asn)	Xeroderma pigmentosum, group F [RCV001857095]\|not specified [RCV000502790]	uncertain significance	16	13934199	13934199	Human	1	name
13500610	CV465057	single nucleotide variant	NM_005236.3(ERCC4):c.1031A>T (p.Tyr344Phe)	Fanconi anemia complementation group Q [RCV001292941]\|Xeroderma pigmentosum, group F [RCV000540520]	likely benign\|uncertain significance	16	13932214	13932214	Human	2	name
13466086	CV465919	single nucleotide variant	NM_005236.3(ERCC4):c.2125G>A (p.Val709Met)	Xeroderma pigmentosum [RCV002257837]\|Xeroderma pigmentosum, group F [RCV000543207]\|not specified [RCV001821616]	uncertain significance	16	13947721	13947721	Human	2	name
13623814	CV529436	single nucleotide variant	NM_005236.3(ERCC4):c.1633G>A (p.Gly545Arg)	Xeroderma pigmentosum [RCV002257912]\|Xeroderma pigmentosum, group F [RCV000651475]	uncertain significance	16	13935565	13935565	Human	2	name
13623813	CV529466	single nucleotide variant	NM_005236.3(ERCC4):c.1265A>T (p.Asp422Val)	Xeroderma pigmentosum, group F [RCV000651476]	uncertain significance	16	13935197	13935197	Human	1	name
13623818	CV529774	single nucleotide variant	NM_005236.3(ERCC4):c.2591G>A (p.Arg864His)	Xeroderma pigmentosum, group F [RCV000651471]\|Xeroderma pigmentosum, group F [RCV005019086]	uncertain significance	16	13948187	13948187	Human	1	name
13810445	CV567678	single nucleotide variant	NM_005236.3(ERCC4):c.2677A>G (p.Asn893Asp)	ERCC4-related disorder [RCV004751670]\|Inborn genetic diseases [RCV002536360]\|Xeroderma pigmentosum [RCV002259009]\|Xeroderma pigmentosum, group F [RCV000702604]\|Xeroderma pigmentosum, group F [RCV000989537]\|not provided [RCV001785705]\|not specified [RCV001816729]	uncertain significance	16	13948273	13948273	Human	5	name , trait , alternate_id
13821069	CV569972	single nucleotide variant	NM_005236.3(ERCC4):c.1045G>A (p.Ala349Thr)	Xeroderma pigmentosum, group F [RCV000695372]	uncertain significance	16	13932228	13932228	Human	1	name
13813945	CV569973	single nucleotide variant	NM_005236.3(ERCC4):c.2288C>T (p.Pro763Leu)	Inborn genetic diseases [RCV002547152]\|Xeroderma pigmentosum, group F [RCV000690508]	uncertain significance	16	13947884	13947884	Human	2	name
14709757	CV643912	single nucleotide variant	NM_005236.3(ERCC4):c.1681A>T (p.Ser561Cys)	Xeroderma pigmentosum, group F [RCV000809426]	uncertain significance	16	13935613	13935613	Human	1	name
14737686	CV643913	single nucleotide variant	NM_005236.3(ERCC4):c.1787C>A (p.Ala596Glu)	Ovarian cancer [RCV003153866]\|Xeroderma pigmentosum, group F [RCV000820566]	likely pathogenic\|uncertain significance	16	13935719	13935719	Human	3	name
14740900	CV643914	single nucleotide variant	NM_005236.3(ERCC4):c.2169C>A (p.Cys723Ter)	Xeroderma pigmentosum, group F [RCV000822020]\|Xeroderma pigmentosum, group F [RCV005021255]\|not provided [RCV001194781]	pathogenic\|likely pathogenic\|uncertain significance	16	13947765	13947765	Human	1	name
14726230	CV643915	single nucleotide variant	NM_005236.3(ERCC4):c.2177G>A (p.Arg726His)	Xeroderma pigmentosum, group F [RCV000815544]	uncertain significance	16	13947773	13947773	Human	1	name
14733913	CV643916	single nucleotide variant	NM_005236.3(ERCC4):c.2186T>C (p.Ile729Thr)	Xeroderma pigmentosum [RCV002257965]\|Xeroderma pigmentosum, group F [RCV000802491]\|Xeroderma pigmentosum, group F [RCV002477838]\|not specified [RCV001816865]	uncertain significance	16	13947782	13947782	Human	2	name
14710076	CV643917	single nucleotide variant	NM_005236.3(ERCC4):c.2295G>T (p.Lys765Asn)	Xeroderma pigmentosum, group F [RCV000809506]	uncertain significance	16	13947891	13947891	Human	1	name
14717933	CV643918	single nucleotide variant	NM_005236.3(ERCC4):c.2423C>G (p.Ala808Gly)	Inborn genetic diseases [RCV003353046]\|Ovarian cancer [RCV003153852]\|Xeroderma pigmentosum, group F [RCV000812059]	benign\|uncertain significance	16	13948019	13948019	Human	4	name
14728605	CV643919	single nucleotide variant	NM_005236.3(ERCC4):c.2603A>C (p.His868Pro)	Xeroderma pigmentosum, group F [RCV000800130]\|Xeroderma pigmentosum, group F [RCV002487687]\|not provided [RCV003144614]	uncertain significance	16	13948199	13948199	Human	1	name
14730258	CV643920	single nucleotide variant	NM_005236.3(ERCC4):c.2603A>G (p.His868Arg)	Xeroderma pigmentosum, group F [RCV000800877]	uncertain significance	16	13948199	13948199	Human	1	name
14718987	CV643921	single nucleotide variant	NM_005236.3(ERCC4):c.2725G>A (p.Val909Ile)	Inborn genetic diseases [RCV002537015]\|Xeroderma pigmentosum, group F [RCV000795980]\|Xeroderma pigmentosum, group F [RCV001270126]\|not provided [RCV000999524]	uncertain significance	16	13948321	13948321	Human	2	name
15135816	CV688527	single nucleotide variant	NM_005236.3(ERCC4):c.2647G>A (p.Glu883Lys)	ERCC4-related disorder [RCV003938256]\|Ovarian cancer [RCV003153877]\|Xeroderma pigmentosum [RCV002259039]\|Xeroderma pigmentosum, group F [RCV000864380]\|Xeroderma pigmentosum, group F [RCV000989536]\|not provided [RCV001358163]	benign\|likely benign	16	13948243	13948243	Human	6	name , trait , alternate_id
8616642	CV70482	single nucleotide variant	NM_005236.3(ERCC4):c.2065C>A (p.Arg689Ser)	ERCC4-Related Disorders [RCV004700343]\|Fanconi anemia complementation group Q [RCV000049245]\|Xeroderma pigmentosum, group F [RCV001067959]\|Xeroderma pigmentosum, group F [RCV005016345]\|not provided [RCV003144119]	pathogenic\|likely pathogenic	16	13947661	13947661	Human	4	name , trait
8616646	CV70486	duplication	NM_005236.3(ERCC4):c.1730dup (p.Tyr577Ter)	Spastic ataxia [RCV001646986]\|Xeroderma pigmentosum, group F [RCV001853034]\|Xeroderma pigmentosum, type F/Cockayne syndrome [RCV000049249]	pathogenic	16	13935661	13935662	Human	3	name
8616647	CV70487	single nucleotide variant	NM_005236.3(ERCC4):c.1765C>T (p.Arg589Trp)	Autosomal recessive cerebellar ataxia [RCV005429220]\|ERCC4-related disorder [RCV003415812]\|Xeroderma pigmentosum [RCV002222373]\|Xeroderma pigmentosum, group F [RCV000700109]\|Xeroderma pigmentosum, group F [RCV000762956]\|Xeroderma pigmentosum, type F/Cockayne syn ... (more) drome [RCV000049250]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	16	13935697	13935697	Human	7	name , trait , alternate_id
21403702	CV797245	single nucleotide variant	NM_005236.3(ERCC4):c.1001C>T (p.Ser334Leu)	Inborn genetic diseases [RCV002550735]\|Xeroderma pigmentosum, group F [RCV001065281]\|not provided [RCV000999523]\|not specified [RCV001819713]	uncertain significance	16	13932184	13932184	Human	2	name
38597000	CV801904	single nucleotide variant	NM_005236.3(ERCC4):c.2219G>A (p.Arg740His)	Microcephaly [RCV001252767]\|Xeroderma pigmentosum, group F [RCV002549246]	uncertain significance	16	13947815	13947815	Human	3	name
26891233	CV843098	single nucleotide variant	NM_005236.3(ERCC4):c.1019G>A (p.Arg340Gln)	Xeroderma pigmentosum, group F [RCV001068176]	uncertain significance	16	13932202	13932202	Human	1	name
26915856	CV843099	single nucleotide variant	NM_005236.3(ERCC4):c.1304T>G (p.Leu435Arg)	Xeroderma pigmentosum, group F [RCV001055993]	uncertain significance	16	13935236	13935236	Human	1	name
26921601	CV843100	single nucleotide variant	NM_005236.3(ERCC4):c.1581A>T (p.Glu527Asp)	Fanconi anemia complementation group Q [RCV001292797]\|Xeroderma pigmentosum [RCV002259076]\|Xeroderma pigmentosum, group F [RCV001061136]\|Xeroderma pigmentosum, group F [RCV001119236]	uncertain significance	16	13935513	13935513	Human	3	name
26884736	CV843101	single nucleotide variant	NM_005236.3(ERCC4):c.1619C>T (p.Ser540Leu)	Xeroderma pigmentosum [RCV002259070]\|Xeroderma pigmentosum, group F [RCV001043126]\|not provided [RCV003238281]	uncertain significance	16	13935551	13935551	Human	2	name
26918818	CV843102	single nucleotide variant	NM_005236.3(ERCC4):c.1684G>A (p.Asp562Asn)	Xeroderma pigmentosum, group F [RCV001058309]\|Xeroderma pigmentosum, group F [RCV005021394]	uncertain significance	16	13935616	13935616	Human	1	name
26886327	CV843103	single nucleotide variant	NM_005236.3(ERCC4):c.1691A>G (p.Tyr564Cys)	Xeroderma pigmentosum, group F [RCV001044150]\|Xeroderma pigmentosum, group F [RCV005021363]	uncertain significance	16	13935623	13935623	Human	1	name
26923410	CV843104	single nucleotide variant	NM_005236.3(ERCC4):c.2102G>A (p.Arg701His)	Xeroderma pigmentosum, group F [RCV001063937]\|not provided [RCV003145324]	uncertain significance	16	13947698	13947698	Human	1	name
26904129	CV843105	single nucleotide variant	NM_005236.3(ERCC4):c.2114A>T (p.Asp705Val)	Xeroderma pigmentosum, group F [RCV001036389]	uncertain significance	16	13947710	13947710	Human	1	name
26889925	CV843106	single nucleotide variant	NM_005236.3(ERCC4):c.2176C>T (p.Arg726Cys)	Xeroderma pigmentosum, group F [RCV001045812]	uncertain significance	16	13947772	13947772	Human	1	name
26891111	CV843107	single nucleotide variant	NM_005236.3(ERCC4):c.2212A>G (p.Asn738Asp)	Xeroderma pigmentosum, group F [RCV001068120]	uncertain significance	16	13947808	13947808	Human	1	name
26900998	CV843108	single nucleotide variant	NM_005236.3(ERCC4):c.2290A>G (p.Ser764Gly)	Xeroderma pigmentosum, group F [RCV001071450]\|Xeroderma pigmentosum, group F [RCV005394725]\|not provided [RCV005429301]\|not specified [RCV001819796]	uncertain significance	16	13947886	13947886	Human	1	name
26916995	CV843109	single nucleotide variant	NM_005236.3(ERCC4):c.2474C>T (p.Ala825Val)	Xeroderma pigmentosum, group F [RCV001056707]	uncertain significance	16	13948070	13948070	Human	1	name
26921084	CV843110	single nucleotide variant	NM_005236.3(ERCC4):c.2534A>G (p.Asn845Ser)	Inborn genetic diseases [RCV002554430]\|Xeroderma pigmentosum, group F [RCV001060645]	uncertain significance	16	13948130	13948130	Human	2	name
26922576	CV843111	single nucleotide variant	NM_005236.3(ERCC4):c.2588G>C (p.Cys863Ser)	Xeroderma pigmentosum, group F [RCV001062344]	uncertain significance	16	13948184	13948184	Human	1	name
26900886	CV843112	single nucleotide variant	NM_005236.3(ERCC4):c.2735G>A (p.Gly912Glu)	Xeroderma pigmentosum, group F [RCV001071419]\|Xeroderma pigmentosum, group F [RCV005021426]	uncertain significance	16	13948331	13948331	Human	1	name
28880877	CV874637	single nucleotide variant	NM_005236.3(ERCC4):c.1342G>C (p.Glu448Gln)	Xeroderma pigmentosum, group F [RCV001117658]\|Xeroderma pigmentosum, group F [RCV002069900]\|Xeroderma pigmentosum, group F [RCV002491367]	likely benign	16	13935274	13935274	Human	1	name
28880883	CV874638	single nucleotide variant	NM_005236.3(ERCC4):c.1488A>C (p.Gln496His)	Xeroderma pigmentosum, group F [RCV001117660]\|Xeroderma pigmentosum, group F [RCV002497527]	uncertain significance	16	13935420	13935420	Human	1	name
28892145	CV874640	single nucleotide variant	NM_005236.3(ERCC4):c.1917C>A (p.Ser639Arg)	Fanconi anemia complementation group Q [RCV004789403]\|Xeroderma pigmentosum, group F [RCV001121235]\|Xeroderma pigmentosum, group F [RCV005213460]	uncertain significance	16	13944735	13944735	Human	2	name
28892148	CV874641	single nucleotide variant	NM_005236.3(ERCC4):c.2065C>T (p.Arg689Cys)	Xeroderma pigmentosum, group F [RCV001121236]	uncertain significance	16	13947661	13947661	Human	1	name
8635672	CV90894	single nucleotide variant	NM_005236.2(ERCC4):c.1025G>A (p.Arg342Lys)	Malignant melanoma [RCV000070992]	not provided	16	13932208	13932208	Human		name
34889045	CV917877	single nucleotide variant	NM_005236.3(ERCC4):c.1861A>G (p.Thr621Ala)	not provided [RCV001194780]	uncertain significance	16	13937815	13937815	Human		name
34889054	CV917879	single nucleotide variant	NM_005236.3(ERCC4):c.2357C>T (p.Ser786Phe)	not provided [RCV001194783]	uncertain significance	16	13947953	13947953	Human		name
38460927	CV919606	single nucleotide variant	NM_005236.3(ERCC4):c.1979C>T (p.Thr660Ile)	Fanconi anemia complementation group Q [RCV001197035]\|Xeroderma pigmentosum [RCV002258151]\|Xeroderma pigmentosum, group F [RCV002559253]	uncertain significance	16	13944797	13944797	Human	3	name
38474532	CV927561	single nucleotide variant	NM_005236.3(ERCC4):c.1114G>A (p.Glu372Lys)	Xeroderma pigmentosum, group F [RCV001214784]	uncertain significance	16	13934203	13934203	Human	1	name
38480137	CV927562	single nucleotide variant	NM_005236.3(ERCC4):c.1648C>T (p.Pro550Ser)	Xeroderma pigmentosum, group F [RCV001217410]	uncertain significance	16	13935580	13935580	Human	1	name
38477547	CV927563	single nucleotide variant	NM_005236.3(ERCC4):c.2575A>T (p.Asn859Tyr)	Xeroderma pigmentosum, group F [RCV001216191]	uncertain significance	16	13948171	13948171	Human	1	name
38491325	CV927564	single nucleotide variant	NM_005236.3(ERCC4):c.2620G>A (p.Ala874Thr)	Inborn genetic diseases [RCV002562566]\|Xeroderma pigmentosum, group F [RCV001222762]	uncertain significance	16	13948216	13948216	Human	2	name
38458906	CV937218	single nucleotide variant	NM_005236.3(ERCC4):c.2248C>T (p.Arg750Cys)	Spastic ataxia [RCV001644951]\|Xeroderma pigmentosum, group F [RCV001211525]	pathogenic\|uncertain significance	16	13947844	13947844	Human	3	name
38470485	CV937219	single nucleotide variant	NM_005236.3(ERCC4):c.2546A>T (p.Gln849Leu)	Xeroderma pigmentosum, group F [RCV001213577]	uncertain significance	16	13948142	13948142	Human	1	name
38482947	CV937220	single nucleotide variant	NM_005236.3(ERCC4):c.2621C>T (p.Ala874Val)	Xeroderma pigmentosum, group F [RCV001207464]	uncertain significance	16	13948217	13948217	Human	1	name
38498371	CV949165	single nucleotide variant	NM_005236.3(ERCC4):c.1364A>G (p.Lys455Arg)	Xeroderma pigmentosum, group F [RCV001227574]	uncertain significance	16	13935296	13935296	Human	1	name
38496189	CV949166	single nucleotide variant	NM_005236.3(ERCC4):c.2101C>T (p.Arg701Cys)	Xeroderma pigmentosum, group F [RCV001226220]	uncertain significance	16	13947697	13947697	Human	1	name
38473747	CV949167	single nucleotide variant	NM_005236.3(ERCC4):c.2738A>G (p.Lys913Arg)	Xeroderma pigmentosum, group F [RCV001231920]	uncertain significance	16	13948334	13948334	Human	1	name
38495554	CV957625	single nucleotide variant	NM_005236.3(ERCC4):c.1201C>T (p.Leu401Phe)	Xeroderma pigmentosum, group F [RCV001242009]\|not provided [RCV003238330]	uncertain significance	16	13934290	13934290	Human	1	name
38468982	CV957626	single nucleotide variant	NM_005236.3(ERCC4):c.1334A>C (p.Lys445Thr)	Inborn genetic diseases [RCV002570368]\|Xeroderma pigmentosum, group F [RCV001248130]	uncertain significance	16	13935266	13935266	Human	2	name
126730268	CV986069	single nucleotide variant	NM_005236.3(ERCC4):c.1765C>G (p.Arg589Gly)	Fanconi anemia complementation group Q [RCV001294106]	uncertain significance	16	13935697	13935697	Human	1	name
126730277	CV986070	single nucleotide variant	NM_005236.3(ERCC4):c.2249G>A (p.Arg750His)	Fanconi anemia complementation group Q [RCV001294108]	uncertain significance	16	13947845	13947845	Human	1	name
126754752	CV996591	single nucleotide variant	NM_005236.3(ERCC4):c.1090A>G (p.Lys364Glu)	Inborn genetic diseases [RCV004619611]\|Xeroderma pigmentosum, group F [RCV001307701]	uncertain significance	16	13932273	13932273	Human	2	name
126729225	CV996592	single nucleotide variant	NM_005236.3(ERCC4):c.1243C>G (p.Arg415Gly)	Xeroderma pigmentosum, group F [RCV001303533]	uncertain significance	16	13935175	13935175	Human	1	name
126762323	CV996593	single nucleotide variant	NM_005236.3(ERCC4):c.1391A>T (p.Lys464Ile)	Ovarian cancer [RCV003153976]\|Xeroderma pigmentosum, group F [RCV001300359]\|Xeroderma pigmentosum, group F [RCV005014361]	benign\|uncertain significance	16	13935323	13935323	Human	3	name
126761916	CV996594	single nucleotide variant	NM_005236.3(ERCC4):c.1739T>C (p.Leu580Pro)	Xeroderma pigmentosum [RCV002258186]\|Xeroderma pigmentosum, group F [RCV001300231]	uncertain significance	16	13935671	13935671	Human	2	name
126731456	CV996595	single nucleotide variant	NM_005236.3(ERCC4):c.1802A>C (p.Lys601Thr)	Xeroderma pigmentosum [RCV002258183]\|Xeroderma pigmentosum, group F [RCV001294384]\|not provided [RCV005051884]\|not specified [RCV001819982]	likely benign\|uncertain significance	16	13935734	13935734	Human	2	name
126725374	CV996596	single nucleotide variant	NM_005236.3(ERCC4):c.1870C>T (p.Arg624Trp)	Xeroderma pigmentosum, group F [RCV001302545]	uncertain significance	16	13937824	13937824	Human	1	name
151804120	CV1444120	deletion	NM_005236.3(ERCC4):c.557_558del (p.Phe186fs)	Xeroderma pigmentosum, group F [RCV001917980]\|Xeroderma pigmentosum, group F [RCV004555891]	pathogenic\|likely pathogenic	16	13926726	13926727	Human	1	name
404992551	CV3091418	deletion	NM_005236.3(ERCC4):c.849_856del (p.Leu284fs)	Xeroderma pigmentosum, group F [RCV003792893]	pathogenic	16	13930764	13930771	Human	1	name
34889034	CV917873	deletion	NM_005236.3(ERCC4):c.516_517del (p.Thr173fs)	not provided [RCV001194776]	pathogenic	16	13926687	13926688	Human		name
34889038	CV917874	microsatellite	NM_005236.3(ERCC4):c.540_541del (p.Arg180fs)	not provided [RCV001194777]	uncertain significance	16	13926710	13926711	Human		name
13832537	CV583032	microsatellite	NM_005236.3(ERCC4):c.2550CTT[1] (p.Phe851del)	not provided [RCV000723229]	uncertain significance	16	13948146	13948148	Human		name
156015417	CV2114360	microsatellite	NM_005236.3(ERCC4):c.1447_1450del (p.Arg483fs)	Xeroderma pigmentosum, group F [RCV002909338]	pathogenic	16	13935373	13935376	Human		name
405012184	CV3113966	deletion	NM_005236.3(ERCC4):c.2634_2637del (p.Leu879fs)	Xeroderma pigmentosum, group F [RCV003804988]	uncertain significance	16	13948230	13948233	Human	1	name
8565690	CV31618	microsatellite	NM_005236.3(ERCC4):c.2304_2307del (p.Thr770fs)	Xeroderma pigmentosum, group F [RCV000018047]	pathogenic	16	13947896	13947899	Human		name
597757747	CV3711353	deletion	NM_005236.3(ERCC4):c.1901_1902del (p.Ile634fs)	Xeroderma pigmentosum, group F [RCV005017649]	likely pathogenic	16	13937854	13937855	Human	1	name
13831895	CV582393	deletion	NM_005236.3(ERCC4):c.1553_1554del (p.Ile518fs)	not provided [RCV000722580]	uncertain significance	16	13935484	13935485	Human		name
8616641	CV70481	deletion	NM_005236.3(ERCC4):c.1484_1488del (p.Thr495fs)	Fanconi anemia complementation group Q [RCV000049244]\|Precursor B-cell acute lymphoblastic leukemia [RCV000722038]\|Xeroderma pigmentosum, group F [RCV005213201]	pathogenic	16	13935414	13935418	Human	4	name
8616643	CV70483	duplication	NM_005236.3(ERCC4):c.2371_2398dup (p.Ile800fs)	Fanconi anemia complementation group Q [RCV000049246]\|Xeroderma pigmentosum, group F [RCV001310216]	pathogenic\|likely pathogenic	16	13947966	13947967	Human	2	name
38491180	CV957627	deletion	NM_005236.3(ERCC4):c.1882_1885del (p.Glu628fs)	Xeroderma pigmentosum, group F [RCV001239295]	pathogenic	16	13937833	13937836	Human	1	name
156124321	CV2036203	inversion	NM_005236.3(ERCC4):c.2505_2506inv (p.Glu836Lys)	Xeroderma pigmentosum, group F [RCV002800355]	uncertain significance	16	13948101	13948102	Human		name
13832408	CV582902	deletion	NM_005236.3(ERCC4):c.1523_1525del (p.Gly508del)	not provided [RCV000723096]	uncertain significance	16	13935453	13935455	Human		name
150540490	CV1314615	insertion	NM_005236.3(ERCC4):c.1197_1198insCA (p.Ala400fs)	Xeroderma pigmentosum, group F [RCV003772149]\|not provided [RCV001781048]	pathogenic\|likely pathogenic	16	13934285	13934286	Human	1	name
151354499	CV1329632	indel	NM_005236.3(ERCC4):c.450_451delinsTT (p.Leu151Phe)	not specified [RCV001817996]	uncertain significance	16	13926622	13926623	Human		name
156446427	CV1937900	indel	NM_005236.3(ERCC4):c.1923_1924delinsGT (p.Val642Phe)	Xeroderma pigmentosum, group F [RCV003117931]	uncertain significance	16	13944741	13944742	Human		name
597892064	CV3867990	indel	NM_005236.3(ERCC4):c.1912_1913delinsTT (p.Ala638Leu)	Xeroderma pigmentosum, group F [RCV005219018]	uncertain significance	16	13944730	13944731	Human		name
13623803	CV529467	deletion	NM_005236.3(ERCC4):c.1731del (p.Arg576_Tyr577insTer)	Xeroderma pigmentosum, group F [RCV000651478]	pathogenic	16	13935663	13935663	Human	1	name
151890699	CV1353709	deletion	NM_005236.3(ERCC4):c.1558_1563del (p.Ser520_Ser521del)	Xeroderma pigmentosum, group F [RCV001963720]	uncertain significance	16	13935487	13935492	Human	1	name
597757757	CV3711355	indel	NM_005236.3(ERCC4):c.2236_2243delinsTGTACA (p.Ile746fs)	Xeroderma pigmentosum, group F [RCV005017651]	likely pathogenic	16	13947832	13947839	Human		name
156016017	CV2114420	insertion	NM_005236.3(ERCC4):c.2448_2449insCAACAAAGCACAAAG (p.Leu816_Lys817insGlnGlnSerThrLys)	Xeroderma pigmentosum, group F [RCV002909368]	uncertain significance	16	13948043	13948044	Human	1	name

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