Nhej1 Variant Search Result - Rat Genome Database

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Variants search result for Homo sapiens
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235 records found for search term Nhej1

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
150445548	CV1261217	single nucleotide variant	NM_024782.3(NHEJ1):c.*40C>T	not provided [RCV001679891]\|not specified [RCV003401599]	benign	2	219076341	219076341	Human		name
150451504	CV1220872	single nucleotide variant	NM_024782.3(NHEJ1):c.*157C>T	not provided [RCV001611966]	benign	2	219076224	219076224	Human		name
126763825	CV1024153	single nucleotide variant	NM_024782.3(NHEJ1):c.588+5G>A	Cernunnos-XLF deficiency [RCV001341428]	uncertain significance	2	219146675	219146675	Human	1	name , alternate_id
127290388	CV1112324	single nucleotide variant	NM_024782.3(NHEJ1):c.589-7C>G	Cernunnos-XLF deficiency [RCV001458424]	likely benign	2	219078213	219078213	Human	1	name , alternate_id
150500342	CV1283478	single nucleotide variant	NM_024782.3(NHEJ1):c.1-112T>G	not provided [RCV001718373]\|not specified [RCV003394230]	benign	2	219158474	219158474	Human		name
151857302	CV1348049	single nucleotide variant	NM_024782.3(NHEJ1):c.530-1G>A	Cernunnos-XLF deficiency [RCV001979683]	likely pathogenic	2	219146739	219146739	Human	1	name , alternate_id
8692258	CV142224	single nucleotide variant	NM_024782.3(NHEJ1):c.706+7C>A	Cernunnos-XLF deficiency [RCV000531781]\|not provided [RCV004708044]\|not specified [RCV000127203]	benign	2	219078082	219078082	Human	1	name , alternate_id
151719106	CV1458822	single nucleotide variant	NM_024782.3(NHEJ1):c.529+1G>A	Cernunnos-XLF deficiency [RCV002003384]	likely pathogenic	2	219147656	219147656	Human	1	name , alternate_id
151708991	CV1476161	single nucleotide variant	NM_024782.3(NHEJ1):c.589-6T>A	Cernunnos-XLF deficiency [RCV001907580]	likely benign\|uncertain significance	2	219078212	219078212	Human	1	name , alternate_id
152105463	CV1622905	single nucleotide variant	NM_024782.3(NHEJ1):c.391-4A>G	Cernunnos-XLF deficiency [RCV002214745]	likely benign	2	219147799	219147799	Human	1	name , alternate_id
10045175	CV188951	single nucleotide variant	NM_024782.3(NHEJ1):c.390+1G>C	not provided [RCV000171332]	pathogenic\|likely pathogenic	2	219157471	219157471	Human		name
156308616	CV2085764	single nucleotide variant	NM_024782.3(NHEJ1):c.390+1G>A	Cernunnos-XLF deficiency [RCV002898584]	likely pathogenic	2	219157471	219157471	Human	1	name , alternate_id
156302198	CV2105012	single nucleotide variant	NM_024782.3(NHEJ1):c.177+1G>A	Cernunnos-XLF deficiency [RCV002922632]	likely pathogenic	2	219158185	219158185	Human	1	name , alternate_id
405024112	CV3058587	single nucleotide variant	NM_024782.3(NHEJ1):c.178-6C>G	Cernunnos-XLF deficiency [RCV003601192]	likely benign	2	219157690	219157690	Human	1	name , alternate_id
405251311	CV3181259	single nucleotide variant	NM_024782.3(NHEJ1):c.390+9A>G	Cernunnos-XLF deficiency [RCV003870261]	likely benign	2	219157463	219157463	Human	1	name , alternate_id
12895375	CV405620	single nucleotide variant	NM_024782.3(NHEJ1):c.530-2A>T	Cernunnos-XLF deficiency [RCV002283483]\|not provided [RCV000486247]	pathogenic	2	219146740	219146740	Human	1	name , alternate_id
13213919	CV427987	single nucleotide variant	NM_024782.3(NHEJ1):c.707-7A>T	Cernunnos-XLF deficiency [RCV001087355]\|not provided [RCV000840974]\|not specified [RCV000500502]	benign\|likely benign	2	219077371	219077371	Human	1	name , alternate_id
14399179	CV614243	single nucleotide variant	NM_024782.3(NHEJ1):c.825+3G>A	Cernunnos-XLF deficiency [RCV000768275]	uncertain significance	2	219077243	219077243	Human	1	name , alternate_id
15167745	CV759146	single nucleotide variant	NM_024782.3(NHEJ1):c.707-8G>A	Cernunnos-XLF deficiency [RCV001488441]	likely benign	2	219077372	219077372	Human	1	name , alternate_id
15142131	CV774672	single nucleotide variant	NM_024782.3(NHEJ1):c.529+8G>C	Cernunnos-XLF deficiency [RCV000944023]	likely benign	2	219147649	219147649	Human	1	name , alternate_id
26918457	CV850841	single nucleotide variant	NM_024782.3(NHEJ1):c.529+9A>T	Cernunnos-XLF deficiency [RCV001057948]	likely benign\|uncertain significance	2	219147648	219147648	Human	1	name , alternate_id
26891865	CV850882	single nucleotide variant	NM_024782.3(NHEJ1):c.589-2A>G	Cernunnos-XLF deficiency [RCV001046665]	likely pathogenic	2	219078208	219078208	Human	1	name , alternate_id
38481515	CV940694	single nucleotide variant	NM_024782.3(NHEJ1):c.178-1G>A	Cernunnos-XLF deficiency [RCV001218042]	likely pathogenic	2	219157685	219157685	Human	1	name , alternate_id
127297841	CV1153996	single nucleotide variant	NM_024782.3(NHEJ1):c.826-13C>T	Cernunnos-XLF deficiency [RCV001513030]	benign	2	219076468	219076468	Human	1	name , alternate_id
127299623	CV1153997	single nucleotide variant	NM_024782.3(NHEJ1):c.390+18G>A	Cernunnos-XLF deficiency [RCV001513776]\|not provided [RCV001712920]\|not specified [RCV003399279]	benign	2	219157454	219157454	Human	1	name , alternate_id
150331647	CV1170898	single nucleotide variant	NM_024782.3(NHEJ1):c.589-77G>A	not provided [RCV001538718]	benign	2	219078283	219078283	Human		name
150412479	CV1176099	single nucleotide variant	NM_024782.3(NHEJ1):c.177+86C>T	not provided [RCV001547533]	likely benign	2	219158100	219158100	Human		name
150409533	CV1189807	single nucleotide variant	NM_024782.3(NHEJ1):c.825+29G>A	not provided [RCV001565699]	likely benign	2	219077217	219077217	Human		name
150436371	CV1234052	single nucleotide variant	NM_024782.3(NHEJ1):c.391-59C>G	not provided [RCV001644179]\|not specified [RCV003394181]	benign	2	219147854	219147854	Human		name
150492420	CV1238172	single nucleotide variant	NM_024782.3(NHEJ1):c.589-53C>T	not provided [RCV001655018]	benign	2	219078259	219078259	Human		name
150508664	CV1244888	single nucleotide variant	NM_024782.3(NHEJ1):c.178-29C>G	not provided [RCV001659139]\|not specified [RCV003394191]	benign	2	219157713	219157713	Human		name
150472999	CV1259392	deletion	NM_024782.3(NHEJ1):c.589-80del	not provided [RCV001684638]	benign	2	219078286	219078286	Human		name
150488653	CV1284067	single nucleotide variant	NM_024782.3(NHEJ1):c.826-50C>T	not provided [RCV001716138]	benign	2	219076505	219076505	Human		name
150548306	CV1316210	single nucleotide variant	NM_024782.3(NHEJ1):c.530-77T>A	not provided [RCV001786011]	likely benign	2	219146815	219146815	Human		name
152166085	CV1524258	single nucleotide variant	NM_024782.3(NHEJ1):c.706+15G>A	Cernunnos-XLF deficiency [RCV002141850]	likely benign	2	219078074	219078074	Human	1	name , alternate_id
152070950	CV1551980	single nucleotide variant	NM_024782.3(NHEJ1):c.589-14C>A	Cernunnos-XLF deficiency [RCV002148068]	likely benign	2	219078220	219078220	Human	1	name , alternate_id
152133544	CV1582799	single nucleotide variant	NM_024782.3(NHEJ1):c.529+11A>G	Cernunnos-XLF deficiency [RCV002099807]	likely benign	2	219147646	219147646	Human	1	name , alternate_id
152028650	CV1655333	single nucleotide variant	NM_024782.3(NHEJ1):c.178-11T>C	Cernunnos-XLF deficiency [RCV002105309]	likely benign	2	219157695	219157695	Human	1	name , alternate_id
152164047	CV1662567	single nucleotide variant	NM_024782.3(NHEJ1):c.390+14G>A	Cernunnos-XLF deficiency [RCV002141440]	likely benign	2	219157458	219157458	Human	1	name , alternate_id
155795897	CV1861555	single nucleotide variant	NM_024782.3(NHEJ1):c.707-22C>G	not provided [RCV002469838]	likely benign	2	219077386	219077386	Human		name
156051330	CV1931914	single nucleotide variant	NM_024782.3(NHEJ1):c.706+16G>T	Cernunnos-XLF deficiency [RCV002620617]	uncertain significance	2	219078073	219078073	Human	1	name , alternate_id
156298781	CV1955454	deletion	NM_024782.3(NHEJ1):c.825+20del	Cernunnos-XLF deficiency [RCV002578134]	likely benign	2	219077226	219077226	Human	1	name , alternate_id
156385134	CV1971902	single nucleotide variant	NM_024782.3(NHEJ1):c.706+19C>T	Cernunnos-XLF deficiency [RCV002604243]	likely benign	2	219078070	219078070	Human	1	name , alternate_id
156228903	CV2048577	single nucleotide variant	NM_024782.3(NHEJ1):c.177+15A>C	Cernunnos-XLF deficiency [RCV002790916]	likely benign	2	219158171	219158171	Human	1	name , alternate_id
405102822	CV2885829	single nucleotide variant	NM_024782.3(NHEJ1):c.706+16G>A	Cernunnos-XLF deficiency [RCV003497113]	likely benign	2	219078073	219078073	Human	1	name , alternate_id
402525309	CV2933622	single nucleotide variant	NM_024782.3(NHEJ1):c.706+13G>C	Cernunnos-XLF deficiency [RCV003496808]	likely benign	2	219078076	219078076	Human	1	name , alternate_id
405012916	CV3018369	single nucleotide variant	NM_024782.3(NHEJ1):c.589-11C>G	Cernunnos-XLF deficiency [RCV003599930]	likely benign	2	219078217	219078217	Human	1	name , alternate_id
405103098	CV3119614	single nucleotide variant	NM_024782.3(NHEJ1):c.589-14C>T	Cernunnos-XLF deficiency [RCV003811876]	likely benign	2	219078220	219078220	Human	1	name , alternate_id
405068883	CV3140187	single nucleotide variant	NM_024782.3(NHEJ1):c.529+18G>C	Cernunnos-XLF deficiency [RCV003833342]	likely benign	2	219147639	219147639	Human	1	name , alternate_id
597863983	CV3823082	single nucleotide variant	NM_024782.3(NHEJ1):c.390+13C>T	Cernunnos-XLF deficiency [RCV005175432]	likely benign	2	219157459	219157459	Human	1	name , alternate_id
150339836	CV1167938	single nucleotide variant	NM_024782.3(NHEJ1):c.390+120T>C	not provided [RCV001534652]\|not specified [RCV003394118]	benign	2	219157352	219157352	Human		name
150426125	CV1183106	single nucleotide variant	NM_024782.3(NHEJ1):c.391-259A>G	not provided [RCV001558942]	likely benign	2	219148054	219148054	Human		name
150446282	CV1215635	single nucleotide variant	NM_024782.3(NHEJ1):c.177+189T>A	not provided [RCV001611228]	benign	2	219157997	219157997	Human		name
150470307	CV1219219	single nucleotide variant	NM_024782.3(NHEJ1):c.826-187G>T	not provided [RCV001614971]	benign	2	219076642	219076642	Human		name
150504843	CV1222746	duplication	NM_024782.3(NHEJ1):c.826-125dup	not provided [RCV001621680]	benign	2	219076557	219076558	Human		name
150492861	CV1225553	single nucleotide variant	NM_024782.3(NHEJ1):c.589-204T>C	not provided [RCV001619069]	benign	2	219078410	219078410	Human		name
150487320	CV1225889	duplication	NM_024782.3(NHEJ1):c.707-300dup	not provided [RCV001618050]	benign	2	219077650	219077651	Human		name
150505894	CV1226211	single nucleotide variant	NM_024782.3(NHEJ1):c.825+290A>G	not provided [RCV001635579]	benign	2	219076956	219076956	Human		name
150508888	CV1229755	single nucleotide variant	NM_024782.3(NHEJ1):c.529+263G>T	not provided [RCV001636334]	benign	2	219147394	219147394	Human		name
150501940	CV1241084	single nucleotide variant	NM_024782.3(NHEJ1):c.177+191T>A	not provided [RCV001656980]	benign	2	219157995	219157995	Human		name
150438387	CV1247164	single nucleotide variant	NM_024782.3(NHEJ1):c.825+101A>G	not provided [RCV001665933]	benign	2	219077145	219077145	Human		name
150489421	CV1250553	single nucleotide variant	NM_024782.3(NHEJ1):c.826-100C>T	not provided [RCV001674516]	benign	2	219076555	219076555	Human		name
329951861	CV1866810	single nucleotide variant	NM_024782.3(NHEJ1):c.588+18131A>G	Isolated anophthalmia-microphthalmia syndrome [RCV003236670]\|Microphthalmia/coloboma 13 [RCV004731275]	pathogenic\|likely pathogenic	2	219128549	219128549	Human	2	name
150340201	CV1167939	microsatellite	NM_024782.3(NHEJ1):c.177+147TG[20]	not provided [RCV001535104]	benign	2	219157992	219157999	Human		name
150461205	CV1215777	microsatellite	NM_024782.3(NHEJ1):c.177+147TG[21]	not provided [RCV001613479]	benign	2	219157992	219157997	Human		name
150456954	CV1269146	microsatellite	NM_024782.3(NHEJ1):c.177+147TG[22]	not provided [RCV001692970]	benign	2	219157992	219157995	Human		name
150510131	CV1286692	microsatellite	NM_024782.3(NHEJ1):c.177+147TG[23]	not provided [RCV001720927]	benign	2	219157992	219157993	Human		name
155267792	CV1705164	microsatellite	NM_024782.3(NHEJ1):c.177+147TG[19]	not provided [RCV002285769]	likely benign	2	219157992	219158001	Human		name
127316503	CV1133241	single nucleotide variant	NM_024782.3(NHEJ1):c.9A>G (p.Glu3=)	Cernunnos-XLF deficiency [RCV001503036]	likely benign	2	219158354	219158354	Human	1	name , alternate_id
156356595	CV2188912	single nucleotide variant	NM_024782.3(NHEJ1):c.24G>A (p.Leu8=)	Cernunnos-XLF deficiency [RCV003048731]	likely benign	2	219158339	219158339	Human	1	name , alternate_id
402510089	CV2855293	single nucleotide variant	NM_024782.3(NHEJ1):c.15G>A (p.Glu5=)	Cernunnos-XLF deficiency [RCV003495547]	likely benign	2	219158348	219158348	Human	1	name , alternate_id
152027218	CV1562607	single nucleotide variant	NM_024782.3(NHEJ1):c.42G>A (p.Ala14=)	Cernunnos-XLF deficiency [RCV002104819]	likely benign	2	219158321	219158321	Human	1	name , alternate_id
8555906	CV16024	duplication	NM_024782.3(NHEJ1):c.11dup (p.Glu5fs)	Cernunnos-XLF deficiency [RCV001851523]\|Severe combined immunodeficiency disease [RCV004799725]	pathogenic	2	219158351	219158352	Human	3	name , alternate_id
156392400	CV2123469	single nucleotide variant	NM_024782.3(NHEJ1):c.42G>T (p.Ala14=)	Cernunnos-XLF deficiency [RCV002944042]	likely benign	2	219158321	219158321	Human	1	name , alternate_id
597763269	CV3706114	single nucleotide variant	NM_024782.3(NHEJ1):c.1A>G (p.Met1Val)	Cernunnos-XLF deficiency [RCV005018654]	likely pathogenic	2	219158362	219158362	Human	1	name , alternate_id
13216680	CV427989	single nucleotide variant	NM_024782.3(NHEJ1):c.57A>G (p.Ala19=)	Cernunnos-XLF deficiency [RCV000912596]\|NHEJ1-related disorder [RCV003962391]\|not provided [RCV001702666]\|not specified [RCV000503945]	likely benign	2	219158306	219158306	Human	1	name , trait , alternate_id
15149163	CV708049	single nucleotide variant	NM_024782.3(NHEJ1):c.36A>G (p.Pro12=)	Cernunnos-XLF deficiency [RCV001522024]\|not provided [RCV004709007]	benign	2	219158327	219158327	Human	1	name , alternate_id
151830603	CV1391750	single nucleotide variant	NM_024782.3(NHEJ1):c.177G>A (p.Lys59=)	Cernunnos-XLF deficiency [RCV002050690]\|not provided [RCV002224094]	uncertain significance	2	219158186	219158186	Human	1	name , alternate_id
152141976	CV1588675	single nucleotide variant	NM_024782.3(NHEJ1):c.219C>G (p.Leu73=)	Cernunnos-XLF deficiency [RCV002200693]	likely benign	2	219157643	219157643	Human	1	name , alternate_id
155951841	CV1880199	single nucleotide variant	NM_024782.3(NHEJ1):c.246A>G (p.Pro82=)	Cernunnos-XLF deficiency [RCV003074195]	likely benign	2	219157616	219157616	Human	1	name , alternate_id
156188197	CV1919460	single nucleotide variant	NM_024782.3(NHEJ1):c.150C>T (p.Asp50=)	Cernunnos-XLF deficiency [RCV002595285]	likely benign	2	219158213	219158213	Human	1	name , alternate_id
10403638	CV206941	single nucleotide variant	NM_024782.3(NHEJ1):c.258C>T (p.Asp86=)	Cernunnos-XLF deficiency [RCV000645374]\|NHEJ1-related disorder [RCV003907700]\|not provided [RCV001531955]\|not specified [RCV000193031]	benign\|likely benign\|uncertain significance	2	219157604	219157604	Human	1	name , trait , alternate_id
156261463	CV2099181	single nucleotide variant	NM_024782.3(NHEJ1):c.13G>A (p.Glu5Lys)	Cernunnos-XLF deficiency [RCV002895595]	uncertain significance	2	219158350	219158350	Human	1	name , alternate_id
405020117	CV2950190	single nucleotide variant	NM_024782.3(NHEJ1):c.270T>C (p.Pro90=)	Cernunnos-XLF deficiency [RCV003600723]	likely benign	2	219157592	219157592	Human	1	name , alternate_id
405013421	CV3023998	single nucleotide variant	NM_024782.3(NHEJ1):c.219C>A (p.Leu73=)	Cernunnos-XLF deficiency [RCV003600084]	likely benign	2	219157643	219157643	Human	1	name , alternate_id
405015451	CV3042532	single nucleotide variant	NM_024782.3(NHEJ1):c.123T>G (p.Leu41=)	Cernunnos-XLF deficiency [RCV003600262]	likely benign	2	219158240	219158240	Human	1	name , alternate_id
405016029	CV3053500	single nucleotide variant	NM_024782.3(NHEJ1):c.294T>C (p.Asp98=)	Cernunnos-XLF deficiency [RCV003600322]	likely benign	2	219157568	219157568	Human	1	name , alternate_id
405255472	CV3172453	deletion	NM_024782.3(NHEJ1):c.75del (p.Lys26fs)	Cernunnos-XLF deficiency [RCV003872391]	pathogenic	2	219158288	219158288	Human	1	name , alternate_id
597723026	CV3559236	single nucleotide variant	NM_024782.3(NHEJ1):c.22C>G (p.Leu8Val)	Inborn genetic diseases [RCV004961736]	uncertain significance	2	219158341	219158341	Human	1	name
597763264	CV3706113	single nucleotide variant	NM_024782.3(NHEJ1):c.16C>T (p.Gln6Ter)	Cernunnos-XLF deficiency [RCV005018653]	likely pathogenic	2	219158347	219158347	Human	1	name , alternate_id
597896070	CV3786030	single nucleotide variant	NM_024782.3(NHEJ1):c.226T>C (p.Leu76=)	Cernunnos-XLF deficiency [RCV005126404]	likely benign	2	219157636	219157636	Human	1	name , alternate_id
127262842	CV1090804	single nucleotide variant	NM_024782.3(NHEJ1):c.606C>T (p.Cys202=)	Cernunnos-XLF deficiency [RCV001439144]	likely benign	2	219078189	219078189	Human	1	name , alternate_id
127298444	CV1112323	single nucleotide variant	NM_024782.3(NHEJ1):c.642G>A (p.Leu214=)	Cernunnos-XLF deficiency [RCV001477910]	likely benign	2	219078153	219078153	Human	1	name , alternate_id
127327790	CV1112325	single nucleotide variant	NM_024782.3(NHEJ1):c.417G>A (p.Leu139=)	Cernunnos-XLF deficiency [RCV001469255]	likely benign	2	219147769	219147769	Human	1	name , alternate_id
127333283	CV1133240	single nucleotide variant	NM_024782.3(NHEJ1):c.597A>G (p.Pro199=)	Cernunnos-XLF deficiency [RCV001490077]	likely benign	2	219078198	219078198	Human	1	name , alternate_id
150405707	CV1189808	duplication	NM_024782.3(NHEJ1):c.707-300_707-299dup	not provided [RCV001564406]	likely benign	2	219077650	219077651	Human		name
150491959	CV1210451	deletion	NM_024782.3(NHEJ1):c.177+187_177+196del	not provided [RCV001592733]	likely benign	2	219157990	219157999	Human		name
150443569	CV1216515	deletion	NM_024782.3(NHEJ1):c.826-112_826-103del	not provided [RCV001610814]	benign	2	219076558	219076567	Human		name
150444569	CV1266550	deletion	NM_024782.3(NHEJ1):c.177+191_177+196del	not provided [RCV001690987]	benign	2	219157990	219157995	Human		name
150478048	CV1270994	deletion	NM_024782.3(NHEJ1):c.177+189_177+196del	not provided [RCV001696429]	benign	2	219157990	219157997	Human		name
151726689	CV1339767	single nucleotide variant	NM_024782.3(NHEJ1):c.681A>G (p.Gln227=)	Cernunnos-XLF deficiency [RCV002004346]	uncertain significance	2	219078114	219078114	Human	1	name , alternate_id
8692257	CV142223	single nucleotide variant	NM_024782.3(NHEJ1):c.40G>A (p.Ala14Thr)	Cernunnos-XLF deficiency [RCV000538734]\|not provided [RCV004709334]\|not specified [RCV000127202]	benign	2	219158323	219158323	Human	1	name , alternate_id
151782796	CV1422338	single nucleotide variant	NM_024782.3(NHEJ1):c.52C>G (p.Leu18Val)	Cernunnos-XLF deficiency [RCV001972234]	uncertain significance	2	219158311	219158311	Human	1	name , alternate_id
152038489	CV1525097	single nucleotide variant	NM_024782.3(NHEJ1):c.642G>T (p.Leu214=)	Cernunnos-XLF deficiency [RCV002165331]	likely benign	2	219078153	219078153	Human	1	name , alternate_id
152038739	CV1530586	single nucleotide variant	NM_024782.3(NHEJ1):c.762A>G (p.Val254=)	Cernunnos-XLF deficiency [RCV002087638]	likely benign	2	219077309	219077309	Human	1	name , alternate_id
152077113	CV1564622	single nucleotide variant	NM_024782.3(NHEJ1):c.438A>G (p.Leu146=)	Cernunnos-XLF deficiency [RCV002192557]	likely benign	2	219147748	219147748	Human	1	name , alternate_id
152067053	CV1566736	single nucleotide variant	NM_024782.3(NHEJ1):c.441G>A (p.Gln147=)	Cernunnos-XLF deficiency [RCV002091062]	benign	2	219147745	219147745	Human	1	name , alternate_id
152135829	CV1595041	single nucleotide variant	NM_024782.3(NHEJ1):c.603A>G (p.Ala201=)	Cernunnos-XLF deficiency [RCV002199926]	likely benign	2	219078192	219078192	Human	1	name , alternate_id
152132195	CV1604722	single nucleotide variant	NM_024782.3(NHEJ1):c.465G>A (p.Thr155=)	Cernunnos-XLF deficiency [RCV002099639]	likely benign	2	219147721	219147721	Human	1	name , alternate_id
152152912	CV1609993	single nucleotide variant	NM_024782.3(NHEJ1):c.468A>G (p.Leu156=)	Cernunnos-XLF deficiency [RCV002179730]	likely benign	2	219147718	219147718	Human	1	name , alternate_id
152040673	CV1624777	single nucleotide variant	NM_024782.3(NHEJ1):c.513G>T (p.Gly171=)	Cernunnos-XLF deficiency [RCV002165641]	likely benign	2	219147673	219147673	Human	1	name , alternate_id
156150656	CV1999307	single nucleotide variant	NM_024782.3(NHEJ1):c.834A>C (p.Ser278=)	Cernunnos-XLF deficiency [RCV002663882]	likely benign	2	219076447	219076447	Human	1	name , alternate_id
156238867	CV2028000	single nucleotide variant	NM_024782.3(NHEJ1):c.457C>T (p.Leu153=)	Cernunnos-XLF deficiency [RCV002745591]	likely benign	2	219147729	219147729	Human	1	name , alternate_id
156061549	CV2057336	single nucleotide variant	NM_024782.3(NHEJ1):c.67C>T (p.Leu23Phe)	Cernunnos-XLF deficiency [RCV002797117]	uncertain significance	2	219158296	219158296	Human	1	name , alternate_id
156238499	CV2081963	single nucleotide variant	NM_024782.3(NHEJ1):c.684G>A (p.Val228=)	Cernunnos-XLF deficiency [RCV002876508]	likely benign	2	219078111	219078111	Human	1	name , alternate_id
156134871	CV2085765	single nucleotide variant	NM_024782.3(NHEJ1):c.94C>T (p.Gln32Ter)	Cernunnos-XLF deficiency [RCV002871770]	pathogenic	2	219158269	219158269	Human	1	name , alternate_id
156312702	CV2151392	single nucleotide variant	NM_024782.3(NHEJ1):c.369C>T (p.Cys123=)	Cernunnos-XLF deficiency [RCV003028674]	likely benign	2	219157493	219157493	Human	1	name , alternate_id
405102153	CV2876884	single nucleotide variant	NM_024782.3(NHEJ1):c.381T>C (p.Ser127=)	Cernunnos-XLF deficiency [RCV003496873]	likely benign	2	219157481	219157481	Human	1	name , alternate_id
402511991	CV2919775	single nucleotide variant	NM_024782.3(NHEJ1):c.558A>G (p.Glu186=)	Cernunnos-XLF deficiency [RCV003495716]	likely benign	2	219146710	219146710	Human	1	name , alternate_id
405024557	CV3065782	single nucleotide variant	NM_024782.3(NHEJ1):c.600G>A (p.Glu200=)	Cernunnos-XLF deficiency [RCV003601234]	likely benign	2	219078195	219078195	Human	1	name , alternate_id
405032091	CV3070601	single nucleotide variant	NM_024782.3(NHEJ1):c.753C>T (p.Ser251=)	Cernunnos-XLF deficiency [RCV003601857]	likely benign	2	219077318	219077318	Human	1	name , alternate_id
407452828	CV3495334	duplication	NM_024782.3(NHEJ1):c.233dup (p.Asn78fs)	Cernunnos-XLF deficiency [RCV004691647]	pathogenic	2	219157628	219157629	Human	1	name , alternate_id
596947184	CV3548734	single nucleotide variant	NM_024782.3(NHEJ1):c.46C>G (p.Leu16Val)	not provided [RCV004811058]	uncertain significance	2	219158317	219158317	Human		name
597874419	CV3775489	single nucleotide variant	NM_024782.3(NHEJ1):c.798C>T (p.Thr266=)	Cernunnos-XLF deficiency [RCV005123219]	likely benign	2	219077273	219077273	Human	1	name , alternate_id
597888575	CV3804722	single nucleotide variant	NM_024782.3(NHEJ1):c.47T>C (p.Leu16Pro)	Cernunnos-XLF deficiency [RCV005150984]	uncertain significance	2	219158316	219158316	Human	1	name , alternate_id
597923282	CV3808488	single nucleotide variant	NM_024782.3(NHEJ1):c.567C>T (p.Phe189=)	Cernunnos-XLF deficiency [RCV005156002]	likely benign	2	219146701	219146701	Human	1	name , alternate_id
597970811	CV3832607	single nucleotide variant	NM_024782.3(NHEJ1):c.309A>C (p.Ala103=)	Cernunnos-XLF deficiency [RCV005166686]	likely benign	2	219157553	219157553	Human	1	name , alternate_id
597893263	CV3833406	single nucleotide variant	NM_024782.3(NHEJ1):c.771A>G (p.Pro257=)	Cernunnos-XLF deficiency [RCV005180098]	likely benign	2	219077300	219077300	Human	1	name , alternate_id
13486029	CV450644	single nucleotide variant	NM_024782.3(NHEJ1):c.451A>C (p.Arg151=)	Cernunnos-XLF deficiency [RCV000553502]\|not provided [RCV002292565]	benign\|likely benign	2	219147735	219147735	Human	1	name , alternate_id
13536221	CV499998	single nucleotide variant	NM_024782.3(NHEJ1):c.783C>G (p.Val261=)	Cernunnos-XLF deficiency [RCV000916961]\|NHEJ1-related disorder [RCV003953036]\|not provided [RCV003431142]\|not specified [RCV000608681]	likely benign	2	219077288	219077288	Human	1	name , trait , alternate_id
14711120	CV629474	single nucleotide variant	NM_024782.3(NHEJ1):c.702C>T (p.Gly234=)	Cernunnos-XLF deficiency [RCV000809828]	uncertain significance	2	219078093	219078093	Human	1	name , alternate_id
14714442	CV629479	single nucleotide variant	NM_024782.3(NHEJ1):c.41C>T (p.Ala14Val)	Cernunnos-XLF deficiency [RCV000794422]\|Inborn genetic diseases [RCV005372433]	uncertain significance	2	219158322	219158322	Human	2	name , alternate_id
14741627	CV655419	single nucleotide variant	NM_024782.3(NHEJ1):c.513G>C (p.Gly171=)	Cernunnos-XLF deficiency [RCV002068568]\|not provided [RCV000840872]	likely benign	2	219147673	219147673	Human	1	name , alternate_id
15142836	CV691034	single nucleotide variant	NM_024782.3(NHEJ1):c.747C>T (p.Ile249=)	Cernunnos-XLF deficiency [RCV000877942]	likely benign	2	219077324	219077324	Human	1	name , alternate_id
15116756	CV781186	single nucleotide variant	NM_024782.3(NHEJ1):c.837C>A (p.Gly279=)	Cernunnos-XLF deficiency [RCV000978645]	likely benign	2	219076444	219076444	Human	1	name , alternate_id
38489990	CV942613	single nucleotide variant	NM_024782.3(NHEJ1):c.30G>A (p.Met10Ile)	Cernunnos-XLF deficiency [RCV001238646]\|Inborn genetic diseases [RCV002563920]	uncertain significance	2	219158333	219158333	Human	2	name , alternate_id
150546262	CV1313648	single nucleotide variant	NM_024782.3(NHEJ1):c.169C>T (p.Arg57Ter)	Cernunnos-XLF deficiency [RCV004691645]	pathogenic	2	219158194	219158194	Human	1	name , alternate_id
151809655	CV1417257	single nucleotide variant	NM_024782.3(NHEJ1):c.112G>A (p.Val38Ile)	Cernunnos-XLF deficiency [RCV002028844]	uncertain significance	2	219158251	219158251	Human	1	name , alternate_id
151752943	CV1424522	single nucleotide variant	NM_024782.3(NHEJ1):c.274G>A (p.Glu92Lys)	Cernunnos-XLF deficiency [RCV001894525]	uncertain significance	2	219157588	219157588	Human	1	name , alternate_id
151713701	CV1464307	single nucleotide variant	NM_024782.3(NHEJ1):c.229G>T (p.Asp77Tyr)	Cernunnos-XLF deficiency [RCV001964798]\|Inborn genetic diseases [RCV004955882]	uncertain significance	2	219157633	219157633	Human	2	name , alternate_id
151808183	CV1474752	single nucleotide variant	NM_024782.3(NHEJ1):c.108G>C (p.Leu36Phe)	Cernunnos-XLF deficiency [RCV001932938]	uncertain significance	2	219158255	219158255	Human	1	name , alternate_id
8555902	CV16020	single nucleotide variant	NM_024782.3(NHEJ1):c.169C>G (p.Arg57Gly)	Cernunnos-XLF deficiency [RCV000001032]\|not provided [RCV002223749]	pathogenic\|likely pathogenic\|uncertain significance	2	219158194	219158194	Human	1	name , alternate_id
8555905	CV16023	indel	NM_024782.3(NHEJ1):c.177+1_177+3delinsTT	Cernunnos-XLF deficiency [RCV000001035]	pathogenic	2	219158183	219158185	Human		name , alternate_id
155268273	CV1701700	single nucleotide variant	NM_024782.3(NHEJ1):c.134G>A (p.Trp45Ter)	Cernunnos-XLF deficiency [RCV002283930]	pathogenic	2	219158229	219158229	Human	1	name , alternate_id
156235259	CV1976836	single nucleotide variant	NM_024782.3(NHEJ1):c.191G>A (p.Arg64Gln)	Cernunnos-XLF deficiency [RCV002596955]	uncertain significance	2	219157671	219157671	Human	1	name , alternate_id
156040996	CV1999020	single nucleotide variant	NM_024782.3(NHEJ1):c.200C>G (p.Ala67Gly)	Cernunnos-XLF deficiency [RCV002659036]	uncertain significance	2	219157662	219157662	Human	1	name , alternate_id
156269963	CV2008211	single nucleotide variant	NM_024782.3(NHEJ1):c.122T>G (p.Leu41Arg)	Cernunnos-XLF deficiency [RCV002714947]	uncertain significance	2	219158241	219158241	Human	1	name , alternate_id
155950839	CV2058737	single nucleotide variant	NM_024782.3(NHEJ1):c.151A>G (p.Thr51Ala)	Cernunnos-XLF deficiency [RCV002816261]	uncertain significance	2	219158212	219158212	Human	1	name , alternate_id
156104584	CV2061152	single nucleotide variant	NM_024782.3(NHEJ1):c.205C>A (p.Pro69Thr)	Cernunnos-XLF deficiency [RCV002824680]	uncertain significance	2	219157657	219157657	Human	1	name , alternate_id
156002091	CV2106824	single nucleotide variant	NM_024782.3(NHEJ1):c.238C>T (p.Leu80Phe)	Cernunnos-XLF deficiency [RCV002947839]	uncertain significance	2	219157624	219157624	Human	1	name , alternate_id
156112226	CV2177462	single nucleotide variant	NM_024782.3(NHEJ1):c.230A>G (p.Asp77Gly)	Cernunnos-XLF deficiency [RCV003055139]\|Inborn genetic diseases [RCV005377234]	uncertain significance	2	219157632	219157632	Human	2	name , alternate_id
156062487	CV2323247	single nucleotide variant	NM_024782.3(NHEJ1):c.241C>T (p.Arg81Cys)	Inborn genetic diseases [RCV002950767]	uncertain significance	2	219157621	219157621	Human	1	name
11350754	CV236976	single nucleotide variant	NM_024782.3(NHEJ1):c.170G>A (p.Arg57Gln)	Cernunnos-XLF deficiency [RCV000690631]\|not provided [RCV000224351]\|not specified [RCV002282062]	uncertain significance	2	219158193	219158193	Human	1	name , alternate_id
11633067	CV264088	duplication	NM_024782.3(NHEJ1):c.324dup (p.Arg109fs)	not provided [RCV000310440]	pathogenic	2	219157537	219157538	Human		name
405197324	CV3138811	deletion	NM_024782.3(NHEJ1):c.546del (p.Glu182fs)	Cernunnos-XLF deficiency [RCV003821627]	pathogenic	2	219146722	219146722	Human	1	name , alternate_id
407453360	CV3495333	single nucleotide variant	NM_024782.3(NHEJ1):c.236T>C (p.Leu79Pro)	Cernunnos-XLF deficiency [RCV004691646]	pathogenic	2	219157626	219157626	Human	1	name , alternate_id
597635123	CV3706112	duplication	NM_024782.3(NHEJ1):c.348dup (p.Phe117fs)	Cernunnos-XLF deficiency [RCV005024087]	likely pathogenic	2	219157513	219157514	Human	1	name , alternate_id
597881009	CV3857379	single nucleotide variant	NM_024782.3(NHEJ1):c.205C>G (p.Pro69Ala)	Cernunnos-XLF deficiency [RCV005198991]	uncertain significance	2	219157657	219157657	Human	1	name , alternate_id
598192613	CV3997775	single nucleotide variant	NM_024782.3(NHEJ1):c.209C>A (p.Ala70Glu)	Inborn genetic diseases [RCV005374383]	likely benign	2	219157653	219157653	Human	1	name
12894585	CV405622	deletion	NM_024782.3(NHEJ1):c.350del (p.Phe117fs)	not provided [RCV000483393]	pathogenic	2	219157512	219157512	Human		name
14719857	CV629477	single nucleotide variant	NM_024782.3(NHEJ1):c.256G>A (p.Asp86Asn)	Cernunnos-XLF deficiency [RCV000812787]\|Inborn genetic diseases [RCV002538134]	uncertain significance	2	219157606	219157606	Human	2	name , alternate_id
14714343	CV629478	single nucleotide variant	NM_024782.3(NHEJ1):c.172G>T (p.Ala58Ser)	Cernunnos-XLF deficiency [RCV000794391]\|Inborn genetic diseases [RCV002536979]	uncertain significance	2	219158191	219158191	Human	2	name , alternate_id
26910092	CV825754	single nucleotide variant	NM_024782.3(NHEJ1):c.259G>A (p.Ala87Thr)	Cernunnos-XLF deficiency [RCV001038603]	uncertain significance	2	219157603	219157603	Human	1	name , alternate_id
38497788	CV952944	single nucleotide variant	NM_024782.3(NHEJ1):c.242G>A (p.Arg81His)	Cernunnos-XLF deficiency [RCV001243386]\|Inborn genetic diseases [RCV004034749]	uncertain significance	2	219157620	219157620	Human	2	name , alternate_id
126769828	CV1003679	single nucleotide variant	NM_024782.3(NHEJ1):c.464C>T (p.Thr155Met)	Cernunnos-XLF deficiency [RCV001322201]	uncertain significance	2	219147722	219147722	Human	1	name , alternate_id
126755815	CV1024154	single nucleotide variant	NM_024782.3(NHEJ1):c.326G>A (p.Arg109Gln)	Cernunnos-XLF deficiency [RCV001339125]	uncertain significance	2	219157536	219157536	Human	1	name , alternate_id
126920670	CV1041079	single nucleotide variant	NM_024782.3(NHEJ1):c.748G>A (p.Asp250Asn)	Cernunnos-XLF deficiency [RCV001363014]\|Inborn genetic diseases [RCV003264009]	uncertain significance	2	219077323	219077323	Human	2	name , alternate_id
126913682	CV1041080	single nucleotide variant	NM_024782.3(NHEJ1):c.703G>A (p.Ala235Thr)	Cernunnos-XLF deficiency [RCV001370195]	uncertain significance	2	219078092	219078092	Human	1	name , alternate_id
126915684	CV1041081	single nucleotide variant	NM_024782.3(NHEJ1):c.499T>C (p.Tyr167His)	Cernunnos-XLF deficiency [RCV001360132]	uncertain significance	2	219147687	219147687	Human	1	name , alternate_id
151729664	CV1335407	single nucleotide variant	NM_024782.3(NHEJ1):c.805G>T (p.Ala269Ser)	Inborn genetic diseases [RCV004651730]\|not specified [RCV001844725]	uncertain significance	2	219077266	219077266	Human	1	name
151729669	CV1335408	single nucleotide variant	NM_024782.3(NHEJ1):c.806C>T (p.Ala269Val)	Inborn genetic diseases [RCV004651731]\|not specified [RCV001844726]	likely benign\|uncertain significance	2	219077265	219077265	Human	1	name
151728058	CV1338762	single nucleotide variant	NM_024782.3(NHEJ1):c.818A>C (p.Glu273Ala)	Cernunnos-XLF deficiency [RCV002004494]	uncertain significance	2	219077253	219077253	Human	1	name , alternate_id
151833754	CV1348367	single nucleotide variant	NM_024782.3(NHEJ1):c.743G>C (p.Gly248Ala)	Cernunnos-XLF deficiency [RCV001880556]\|Inborn genetic diseases [RCV002547941]	uncertain significance	2	219077328	219077328	Human	2	name , alternate_id
151872930	CV1359401	single nucleotide variant	NM_024782.3(NHEJ1):c.616G>A (p.Asp206Asn)	Cernunnos-XLF deficiency [RCV002019180]	uncertain significance	2	219078179	219078179	Human	1	name , alternate_id
151878963	CV1359796	single nucleotide variant	NM_024782.3(NHEJ1):c.533G>A (p.Arg178Gln)	Cernunnos-XLF deficiency [RCV002036607]\|not provided [RCV004694164]	uncertain significance	2	219146735	219146735	Human	1	name , alternate_id
151805171	CV1363134	single nucleotide variant	NM_024782.3(NHEJ1):c.346C>G (p.Pro116Ala)	Cernunnos-XLF deficiency [RCV002028459]	uncertain significance	2	219157516	219157516	Human	1	name , alternate_id
151750032	CV1377424	single nucleotide variant	NM_024782.3(NHEJ1):c.701G>A (p.Gly234Asp)	Cernunnos-XLF deficiency [RCV001948049]	uncertain significance	2	219078094	219078094	Human	1	name , alternate_id
151749047	CV1380827	single nucleotide variant	NM_024782.3(NHEJ1):c.722C>T (p.Ser241Leu)	Cernunnos-XLF deficiency [RCV002023181]	uncertain significance	2	219077349	219077349	Human	1	name , alternate_id
151865070	CV1380850	single nucleotide variant	NM_024782.3(NHEJ1):c.448G>A (p.Val150Met)	Cernunnos-XLF deficiency [RCV002018237]	uncertain significance	2	219147738	219147738	Human	1	name , alternate_id
151883407	CV1384208	single nucleotide variant	NM_024782.3(NHEJ1):c.599A>C (p.Glu200Ala)	Cernunnos-XLF deficiency [RCV001886935]	uncertain significance	2	219078196	219078196	Human	1	name , alternate_id
151725828	CV1387074	single nucleotide variant	NM_024782.3(NHEJ1):c.895A>G (p.Ser299Gly)	Cernunnos-XLF deficiency [RCV001910320]	uncertain significance	2	219076386	219076386	Human	1	name , alternate_id
151786498	CV1395537	single nucleotide variant	NM_024782.3(NHEJ1):c.469C>T (p.Leu157Phe)	Cernunnos-XLF deficiency [RCV002010239]	uncertain significance	2	219147717	219147717	Human	1	name , alternate_id
151792470	CV1411076	single nucleotide variant	NM_024782.3(NHEJ1):c.577T>C (p.Phe193Leu)	Cernunnos-XLF deficiency [RCV002010830]	uncertain significance	2	219146691	219146691	Human	1	name , alternate_id
151860817	CV1438585	single nucleotide variant	NM_024782.3(NHEJ1):c.553G>A (p.Glu185Lys)	Cernunnos-XLF deficiency [RCV001923972]	uncertain significance	2	219146715	219146715	Human	1	name , alternate_id
151723839	CV1439715	single nucleotide variant	NM_024782.3(NHEJ1):c.641T>C (p.Leu214Pro)	Cernunnos-XLF deficiency [RCV002040433]	uncertain significance	2	219078154	219078154	Human	1	name , alternate_id
151747050	CV1450657	single nucleotide variant	NM_024782.3(NHEJ1):c.842T>C (p.Leu281Pro)	Cernunnos-XLF deficiency [RCV001927091]	uncertain significance	2	219076439	219076439	Human	1	name , alternate_id
151850693	CV1452143	single nucleotide variant	NM_024782.3(NHEJ1):c.830C>T (p.Thr277Ile)	Cernunnos-XLF deficiency [RCV002016541]	uncertain significance	2	219076451	219076451	Human	1	name , alternate_id
151851145	CV1460534	single nucleotide variant	NM_024782.3(NHEJ1):c.547C>T (p.Pro183Ser)	Cernunnos-XLF deficiency [RCV001904111]	uncertain significance	2	219146721	219146721	Human	1	name , alternate_id
151752834	CV1508810	single nucleotide variant	NM_024782.3(NHEJ1):c.638A>G (p.Asn213Ser)	Cernunnos-XLF deficiency [RCV002043463]	uncertain significance	2	219078157	219078157	Human	1	name , alternate_id
151757941	CV1509076	single nucleotide variant	NM_024782.3(NHEJ1):c.768G>C (p.Gln256His)	Cernunnos-XLF deficiency [RCV002024040]	uncertain significance	2	219077303	219077303	Human	1	name , alternate_id
151853916	CV1510950	single nucleotide variant	NM_024782.3(NHEJ1):c.401A>G (p.His134Arg)	Cernunnos-XLF deficiency [RCV001979293]	uncertain significance	2	219147785	219147785	Human	1	name , alternate_id
8555903	CV16021	single nucleotide variant	NM_024782.3(NHEJ1):c.367T>C (p.Cys123Arg)	Cernunnos-XLF deficiency [RCV000001033]	pathogenic	2	219157495	219157495	Human	1	name , alternate_id
8555904	CV16022	single nucleotide variant	NM_024782.3(NHEJ1):c.532C>T (p.Arg178Ter)	Cernunnos-XLF deficiency [RCV000001034]\|not provided [RCV000319029]	pathogenic	2	219146736	219146736	Human	1	name , alternate_id
156397287	CV1871051	single nucleotide variant	NM_024782.3(NHEJ1):c.500A>G (p.Tyr167Cys)	Cernunnos-XLF deficiency [RCV003068768]	uncertain significance	2	219147686	219147686	Human	1	name , alternate_id
156232367	CV1885219	single nucleotide variant	NM_024782.3(NHEJ1):c.518C>T (p.Thr173Met)	Cernunnos-XLF deficiency [RCV003085417]	uncertain significance	2	219147668	219147668	Human	1	name , alternate_id
156126998	CV1930696	single nucleotide variant	NM_024782.3(NHEJ1):c.781G>A (p.Val261Ile)	Cernunnos-XLF deficiency [RCV002640556]\|Inborn genetic diseases [RCV004961150]	uncertain significance	2	219077290	219077290	Human	2	name , alternate_id
156390785	CV1991212	single nucleotide variant	NM_024782.3(NHEJ1):c.653A>G (p.Tyr218Cys)	Cernunnos-XLF deficiency [RCV002634967]	uncertain significance	2	219078142	219078142	Human	1	name , alternate_id
156128391	CV2043243	single nucleotide variant	NM_024782.3(NHEJ1):c.460G>A (p.Ala154Thr)	Cernunnos-XLF deficiency [RCV002800515]	uncertain significance	2	219147726	219147726	Human	1	name , alternate_id
156323364	CV2134316	single nucleotide variant	NM_024782.3(NHEJ1):c.584T>C (p.Ile195Thr)	Cernunnos-XLF deficiency [RCV002963360]	uncertain significance	2	219146684	219146684	Human	1	name , alternate_id
156230451	CV2156749	single nucleotide variant	NM_024782.3(NHEJ1):c.777A>T (p.Gln259His)	Cernunnos-XLF deficiency [RCV003025622]	uncertain significance	2	219077294	219077294	Human	1	name , alternate_id
156089921	CV2180874	duplication	NM_024782.3(NHEJ1):c.75_78dup (p.Val27fs)	Cernunnos-XLF deficiency [RCV003054322]	pathogenic	2	219158284	219158285	Human	1	name , alternate_id
156256537	CV2194580	single nucleotide variant	NM_024782.3(NHEJ1):c.400C>A (p.His134Asn)	Inborn genetic diseases [RCV002668697]	uncertain significance	2	219147786	219147786	Human	1	name
243056635	CV2418851	single nucleotide variant	NM_024782.3(NHEJ1):c.860C>A (p.Ser287Ter)	not specified [RCV003155818]	uncertain significance	2	219076421	219076421	Human		name
329358460	CV2450323	single nucleotide variant	NM_024782.3(NHEJ1):c.548C>T (p.Pro183Leu)	Inborn genetic diseases [RCV003204035]	uncertain significance	2	219146720	219146720	Human	1	name
329399702	CV2467609	single nucleotide variant	NM_024782.3(NHEJ1):c.709G>C (p.Asp237His)	Inborn genetic diseases [RCV003221072]	uncertain significance	2	219077362	219077362	Human	1	name
402521583	CV2875909	single nucleotide variant	NM_024782.3(NHEJ1):c.329G>C (p.Ser110Thr)	Cernunnos-XLF deficiency [RCV003496496]	uncertain significance	2	219157533	219157533	Human	1	name , alternate_id
402502638	CV2894434	single nucleotide variant	NM_024782.3(NHEJ1):c.526C>T (p.Arg176Ter)	Cernunnos-XLF deficiency [RCV003494647]	pathogenic	2	219147660	219147660	Human	1	name , alternate_id
405031793	CV2987077	single nucleotide variant	NM_024782.3(NHEJ1):c.475A>G (p.Met159Val)	Cernunnos-XLF deficiency [RCV003601832]	uncertain significance	2	219147711	219147711	Human	1	name , alternate_id
405238472	CV3169643	single nucleotide variant	NM_024782.3(NHEJ1):c.765C>A (p.Asn255Lys)	Cernunnos-XLF deficiency [RCV003866731]	uncertain significance	2	219077306	219077306	Human	1	name , alternate_id
405676577	CV3355134	single nucleotide variant	NM_024782.3(NHEJ1):c.788C>T (p.Ser263Leu)	Inborn genetic diseases [RCV004487761]	uncertain significance	2	219077283	219077283	Human	1	name
405676590	CV3355137	single nucleotide variant	NM_024782.3(NHEJ1):c.842T>A (p.Leu281Gln)	Inborn genetic diseases [RCV004487764]	uncertain significance	2	219076439	219076439	Human	1	name
597723030	CV3559237	single nucleotide variant	NM_024782.3(NHEJ1):c.424A>G (p.Met142Val)	Inborn genetic diseases [RCV004961737]	uncertain significance	2	219147762	219147762	Human	1	name
597723039	CV3559238	single nucleotide variant	NM_024782.3(NHEJ1):c.346C>A (p.Pro116Thr)	Inborn genetic diseases [RCV004961738]	uncertain significance	2	219157516	219157516	Human	1	name
12834886	CV366373	single nucleotide variant	NM_024782.3(NHEJ1):c.767A>T (p.Gln256Leu)	Cernunnos-XLF deficiency [RCV000552135]\|not provided [RCV004708795]\|not specified [RCV000420718]	benign	2	219077304	219077304	Human	1	name , alternate_id
597875748	CV3859810	single nucleotide variant	NM_024782.3(NHEJ1):c.501C>A (p.Tyr167Ter)	Cernunnos-XLF deficiency [RCV005198217]	pathogenic	2	219147685	219147685	Human	1	name , alternate_id
598192610	CV3997774	single nucleotide variant	NM_024782.3(NHEJ1):c.552T>A (p.Phe184Leu)	Inborn genetic diseases [RCV005374382]	uncertain significance	2	219146716	219146716	Human	1	name
12893611	CV405621	single nucleotide variant	NM_024782.3(NHEJ1):c.355T>G (p.Trp119Gly)	not provided [RCV000479579]	likely pathogenic	2	219157507	219157507	Human		name
13215257	CV427988	single nucleotide variant	NM_024782.3(NHEJ1):c.299T>C (p.Val100Ala)	Cernunnos-XLF deficiency [RCV001350130]\|Inborn genetic diseases [RCV004023388]\|not specified [RCV000502289]	uncertain significance	2	219157563	219157563	Human	2	name , alternate_id
13617369	CV517726	single nucleotide variant	NM_024782.3(NHEJ1):c.643C>T (p.Gln215Ter)	Cernunnos-XLF deficiency [RCV000645373]	pathogenic	2	219078152	219078152	Human	1	name , alternate_id
13617367	CV517836	single nucleotide variant	NM_024782.3(NHEJ1):c.700G>A (p.Gly234Ser)	Cernunnos-XLF deficiency [RCV000645372]	uncertain significance	2	219078095	219078095	Human	1	name , alternate_id
13811173	CV559121	single nucleotide variant	NM_024782.3(NHEJ1):c.560A>G (p.Asn187Ser)	Cernunnos-XLF deficiency [RCV000688614]\|not provided [RCV001702547]	benign\|likely benign\|uncertain significance	2	219146708	219146708	Human	1	name , alternate_id
14711410	CV629475	single nucleotide variant	NM_024782.3(NHEJ1):c.506A>G (p.Glu169Gly)	Cernunnos-XLF deficiency [RCV000793440]	uncertain significance	2	219147680	219147680	Human	1	name , alternate_id
14730792	CV629476	single nucleotide variant	NM_024782.3(NHEJ1):c.351C>G (p.Phe117Leu)	Cernunnos-XLF deficiency [RCV000817550]	uncertain significance	2	219157511	219157511	Human	1	name , alternate_id
26900241	CV825751	single nucleotide variant	NM_024782.3(NHEJ1):c.794C>T (p.Pro265Leu)	Cernunnos-XLF deficiency [RCV001035255]	uncertain significance	2	219077277	219077277	Human	1	name , alternate_id
26922305	CV825752	single nucleotide variant	NM_024782.3(NHEJ1):c.655A>G (p.Met219Val)	Cernunnos-XLF deficiency [RCV001061839]	uncertain significance	2	219078140	219078140	Human	1	name , alternate_id
26897916	CV825753	single nucleotide variant	NM_024782.3(NHEJ1):c.369C>A (p.Cys123Ter)	Cernunnos-XLF deficiency [RCV001048737]	pathogenic	2	219157493	219157493	Human	1	name , alternate_id
126735290	CV988378	single nucleotide variant	NM_024782.3(NHEJ1):c.896G>A (p.Ser299Asn)	Cernunnos-XLF deficiency [RCV001304577]	uncertain significance	2	219076385	219076385	Human	1	name , alternate_id
126741311	CV988379	single nucleotide variant	NM_024782.3(NHEJ1):c.860C>T (p.Ser287Leu)	Cernunnos-XLF deficiency [RCV001305392]\|Inborn genetic diseases [RCV004639549]\|not specified [RCV004800968]	uncertain significance	2	219076421	219076421	Human	2	name , alternate_id
126740341	CV988380	single nucleotide variant	NM_024782.3(NHEJ1):c.557A>G (p.Glu186Gly)	Cernunnos-XLF deficiency [RCV001295748]	uncertain significance	2	219146711	219146711	Human	1	name , alternate_id
151713315	CV1428743	microsatellite	NM_024782.3(NHEJ1):c.670_671del (p.Gln224fs)	Cernunnos-XLF deficiency [RCV002002421]	pathogenic	2	219078124	219078125	Human		name , alternate_id
12895166	CV405618	duplication	NM_024782.3(NHEJ1):c.570_573dup (p.Gln192fs)	not provided [RCV000485453]	pathogenic	2	219146694	219146695	Human		name
12894981	CV405619	deletion	NM_024782.3(NHEJ1):c.535_538del (p.Leu179fs)	not provided [RCV000484868]	likely pathogenic	2	219146730	219146733	Human		name
151843631	CV1499808	indel	NM_024782.3(NHEJ1):c.805_806delinsTT (p.Ala269Leu)	Cernunnos-XLF deficiency [RCV001921836]	uncertain significance	2	219077265	219077266	Human		name , alternate_id
151763882	CV1468002	microsatellite	NM_024782.3(NHEJ1):c.569_570insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCTGTCCTCGTGATACGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGAAAATTCCTTCTT (p.Leu190fs)	Cernunnos-XLF deficiency [RCV001949465]	pathogenic	2	219146698	219146699	Human		name , alternate_id
405877575	CV3405800	deletion	NC_000002.11:g.(?_220011382)_(220011480_?)del	Cernunnos-XLF deficiency [RCV004582630]	pathogenic				Human	1	alternate_id

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