ClinVar for MedGen (Select 39125) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25803751.	NM_000383.4(AIRE):c.190_226del (p.Ser64fs) GRCh37: Chr21:45706496-45706532 GRCh38: Chr21:44286613-44286649	AIRE	S64fs	Polyglandular autoimmune syndrome, type 1	Pathogenic (Sep 14, 2023)	no assertion criteria provided
Select item 25803742.	NM_000383.4(AIRE):c.1364G>A (p.Trp455Ter) GRCh37: Chr21:45713757 GRCh38: Chr21:44293874	AIRE	W455*	Polyglandular autoimmune syndrome, type 1	Pathogenic (Sep 14, 2023)	no assertion criteria provided
Select item 25803733.	NM_000383.4(AIRE):c.242T>C (p.Leu81Pro) GRCh37: Chr21:45706549 GRCh38: Chr21:44286666	AIRE	L81P	Polyglandular autoimmune syndrome, type 1	Likely pathogenic (Sep 14, 2023)	no assertion criteria provided
Select item 25803724.	NM_000383.4(AIRE):c.131A>C (p.Gln44Pro) GRCh37: Chr21:45706020 GRCh38: Chr21:44286137	AIRE	Q44P	Polyglandular autoimmune syndrome, type 1	Likely pathogenic (Sep 14, 2023)	no assertion criteria provided
Select item 25803715.	NM_000383.4(AIRE):c.133-126_539-180del GRCh37: Chr21:45706314-45708048 GRCh38: Chr21:44286431-44288165	AIRE		Polyglandular autoimmune syndrome, type 1	Pathogenic (Sep 14, 2023)	criteria provided, single submitter
Select item 25803706.	NM_000383.4(AIRE):c.20_115del (p.Leu7_Val38del) GRCh37: Chr21:45705908-45706003 GRCh38: Chr21:44286025-44286120	AIRE		Polyglandular autoimmune syndrome, type 1	Pathogenic (Sep 14, 2023)	no assertion criteria provided
Select item 25803697.	NM_000383.4(AIRE):c.1235del (p.Ser412fs) GRCh37: Chr21:45713015 GRCh38: Chr21:44293132	AIRE	S412fs	Polyglandular autoimmune syndrome, type 1	Pathogenic (Sep 14, 2023)	no assertion criteria provided
Select item 25034508.	NM_000383.4(AIRE):c.1311C>A (p.Cys437Ter) GRCh37: Chr21:45713704 GRCh38: Chr21:44293821	AIRE	C437*	Polyglandular autoimmune syndrome, type 1	Likely pathogenic (Apr 1, 2023)	no assertion criteria provided
Select item 25034429.	NM_000383.4(AIRE):c.1398dup (p.Gly467fs) GRCh37: Chr21:45713788-45713789 GRCh38: Chr21:44293905-44293906	AIRE	G467fs	Polyglandular autoimmune syndrome, type 1	Likely pathogenic (Apr 1, 2023)	no assertion criteria provided
Select item 244071110.	NM_000383.4(AIRE):c.199del (p.Leu66_Leu67insTer) GRCh37: Chr21:45706506 GRCh38: Chr21:44286623	AIRE		Polyglandular autoimmune syndrome, type 1	Likely pathogenic (Jul 7, 2022)	criteria provided, single submitter
Select item 243894811.	NM_000383.4(AIRE):c.1537A>G (p.Arg513Gly) GRCh37: Chr21:45716299 GRCh38: Chr21:44296416	AIRE	R513G	Polyglandular autoimmune syndrome, type 1	Uncertain significance (Nov 12, 2019)	criteria provided, single submitter
Select item 242299512.	NC_000021.8:g.(?_45705880)_(45711103_?)del GRCh37: Chr21:45705880-45711103	AIRE		Polyglandular autoimmune syndrome, type 1	Pathogenic (Sep 16, 2022)	criteria provided, single submitter
Select item 242299413.	NC_000021.8:g.(?_45709640)_(45714378_?)del GRCh37: Chr21:45709640-45714378	AIRE		Polyglandular autoimmune syndrome, type 1	Pathogenic (Sep 16, 2021)	criteria provided, single submitter
Select item 242299314.	NC_000021.8:g.(?_45709520)_(45759077_?)dup GRCh37: Chr21:45709520-45759077	PFKL, CFAP410, AIRE		Polyglandular autoimmune syndrome, type 1	Uncertain significance (Oct 27, 2021)	criteria provided, single submitter
Select item 242175915.	NM_000383.4(AIRE):c.1566+1G>C GRCh37: Chr21:45716329 GRCh38: Chr21:44296446	AIRE		Polyglandular autoimmune syndrome, type 1	Pathogenic (Nov 1, 2022)	criteria provided, single submitter
Select item 241869516.	NM_000383.4(AIRE):c.996-14G>A GRCh37: Chr21:45712171 GRCh38: Chr21:44292288	AIRE		Polyglandular autoimmune syndrome, type 1	Uncertain significance (Sep 9, 2022)	criteria provided, single submitter
Select item 241711017.	NM_000383.4(AIRE):c.1400G>C (p.Gly467Ala) GRCh37: Chr21:45713793 GRCh38: Chr21:44293910	AIRE	G467A	Polyglandular autoimmune syndrome, type 1	Uncertain significance (Oct 17, 2022)	criteria provided, single submitter
Select item 220277218.	NM_000383.4(AIRE):c.1468C>T (p.Pro490Ser) GRCh37: Chr21:45714351 GRCh38: Chr21:44294468	AIRE	P490S	Polyglandular autoimmune syndrome, type 1	Uncertain significance (Jun 15, 2022)	criteria provided, single submitter
Select item 219938519.	NM_000383.4(AIRE):c.1474C>G (p.Pro492Ala) GRCh37: Chr21:45714357 GRCh38: Chr21:44294474	AIRE	P492A	Polyglandular autoimmune syndrome, type 1	Uncertain significance (Oct 8, 2022)	criteria provided, single submitter
Select item 219923120.	NM_000383.4(AIRE):c.995+15C>T GRCh37: Chr21:45711108 GRCh38: Chr21:44291225	AIRE		Polyglandular autoimmune syndrome, type 1	Likely benign (Sep 19, 2022)	criteria provided, single submitter
Select item 219820821.	NM_000383.4(AIRE):c.1438A>G (p.Thr480Ala) GRCh37: Chr21:45714321 GRCh38: Chr21:44294438	AIRE	T480A	Polyglandular autoimmune syndrome, type 1	Uncertain significance (Dec 23, 2021)	criteria provided, single submitter
Select item 219805022.	NM_000383.4(AIRE):c.329G>A (p.Arg110Gln) GRCh37: Chr21:45706882 GRCh38: Chr21:44286999	AIRE	R110Q	Polyglandular autoimmune syndrome, type 1	Uncertain significance (Mar 6, 2022)	criteria provided, single submitter
Select item 219763823.	NM_000383.4(AIRE):c.1278+12G>T GRCh37: Chr21:45713070 GRCh38: Chr21:44293187	AIRE		Polyglandular autoimmune syndrome, type 1	Likely benign (Mar 9, 2022)	criteria provided, single submitter
Select item 219761024.	NM_000383.4(AIRE):c.1503+17C>T GRCh37: Chr21:45714403 GRCh38: Chr21:44294520	AIRE		Polyglandular autoimmune syndrome, type 1	Likely benign (Aug 22, 2022)	criteria provided, single submitter
Select item 219685425.	NM_000383.4(AIRE):c.425C>T (p.Ala142Val) GRCh37: Chr21:45706978 GRCh38: Chr21:44287095	AIRE	A142V	Polyglandular autoimmune syndrome, type 1	Uncertain significance (Oct 5, 2022)	criteria provided, single submitter
Select item 219682726.	NM_000383.4(AIRE):c.1412G>A (p.Arg471His) GRCh37: Chr21:45714295 GRCh38: Chr21:44294412	AIRE	R471H	Polyglandular autoimmune syndrome, type 1	Uncertain significance (Oct 29, 2022)	criteria provided, single submitter
Select item 219672827.	NM_000383.4(AIRE):c.1401G>T (p.Gly467=) GRCh37: Chr21:45714284 GRCh38: Chr21:44294401	AIRE		Polyglandular autoimmune syndrome, type 1	Uncertain significance (Aug 22, 2022)	criteria provided, single submitter
Select item 219494528.	NM_000383.4(AIRE):c.1196C>A (p.Ala399Asp) GRCh37: Chr21:45712976 GRCh38: Chr21:44293093	AIRE	A399D	Polyglandular autoimmune syndrome, type 1, Inborn genetic diseases	Conflicting interpretations of pathogenicity (Feb 23, 2023)	criteria provided, conflicting interpretations
Select item 219437929.	NM_000383.4(AIRE):c.1051C>T (p.Arg351Trp) GRCh37: Chr21:45712240 GRCh38: Chr21:44292357	AIRE	R351W	Polyglandular autoimmune syndrome, type 1	Uncertain significance (Apr 10, 2022)	criteria provided, single submitter
Select item 219331530.	NM_000383.4(AIRE):c.440C>T (p.Thr147Ile) GRCh37: Chr21:45706993 GRCh38: Chr21:44287110	AIRE	T147I	not provided, Polyglandular autoimmune syndrome, type 1	Uncertain significance (Oct 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 219175131.	NM_000383.4(AIRE):c.307+17T>C GRCh37: Chr21:45706631 GRCh38: Chr21:44286748	AIRE		Polyglandular autoimmune syndrome, type 1	Likely benign (Jul 23, 2022)	criteria provided, single submitter
Select item 219170932.	NM_000383.4(AIRE):c.325C>G (p.Pro109Ala) GRCh37: Chr21:45706878 GRCh38: Chr21:44286995	AIRE	P109A	Polyglandular autoimmune syndrome, type 1	Uncertain significance (Feb 10, 2022)	criteria provided, single submitter
Select item 219170133.	NM_000383.4(AIRE):c.471A>G (p.Gln157=) GRCh37: Chr21:45707407 GRCh38: Chr21:44287524	AIRE		Polyglandular autoimmune syndrome, type 1	Likely benign (Sep 14, 2022)	criteria provided, single submitter
Select item 219134234.	NM_000383.4(AIRE):c.1564G>A (p.Glu522Lys) GRCh37: Chr21:45716326 GRCh38: Chr21:44296443	AIRE	E522K	Polyglandular autoimmune syndrome, type 1	Uncertain significance (Jul 8, 2022)	criteria provided, single submitter
Select item 218837035.	NM_000383.4(AIRE):c.491A>G (p.Lys164Arg) GRCh37: Chr21:45707427 GRCh38: Chr21:44287544	AIRE	K164R	Polyglandular autoimmune syndrome, type 1	Uncertain significance (Mar 11, 2022)	criteria provided, single submitter
Select item 218835536.	NM_000383.4(AIRE):c.1387A>T (p.Thr463Ser) GRCh37: Chr21:45713780 GRCh38: Chr21:44293897	AIRE	T463S	Polyglandular autoimmune syndrome, type 1	Uncertain significance (Apr 19, 2022)	criteria provided, single submitter
Select item 218712737.	NM_000383.4(AIRE):c.13G>A (p.Ala5Thr) GRCh37: Chr21:45705902 GRCh38: Chr21:44286019	AIRE	A5T	Polyglandular autoimmune syndrome, type 1	Uncertain significance (Jul 19, 2022)	criteria provided, single submitter
Select item 218294138.	NM_000383.4(AIRE):c.1615C>A (p.Pro539Thr) GRCh37: Chr21:45717587 GRCh38: Chr21:44297704	AIRE	P539T	Polyglandular autoimmune syndrome, type 1	Uncertain significance (Oct 13, 2022)	criteria provided, single submitter
Select item 218091139.	NM_000383.4(AIRE):c.1608G>T (p.Met536Ile) GRCh37: Chr21:45717580 GRCh38: Chr21:44297697	AIRE	M536I	Polyglandular autoimmune syndrome, type 1	Uncertain significance (Dec 31, 2021)	criteria provided, single submitter
Select item 218078640.	NM_000383.4(AIRE):c.1066C>A (p.Arg356=) GRCh37: Chr21:45712255 GRCh38: Chr21:44292372	AIRE		Polyglandular autoimmune syndrome, type 1	Likely benign (Jun 25, 2022)	criteria provided, single submitter
Select item 218046841.	NM_000383.4(AIRE):c.1214C>A (p.Pro405Gln) GRCh37: Chr21:45712994 GRCh38: Chr21:44293111	AIRE	P405Q	Polyglandular autoimmune syndrome, type 1	Uncertain significance (Aug 30, 2022)	criteria provided, single submitter
Select item 218020642.	NM_000383.4(AIRE):c.551T>C (p.Met184Thr) GRCh37: Chr21:45708240 GRCh38: Chr21:44288357	AIRE	M184T	Polyglandular autoimmune syndrome, type 1	Uncertain significance (Dec 18, 2021)	criteria provided, single submitter
Select item 217952243.	NM_000383.4(AIRE):c.1366C>T (p.Arg456Cys) GRCh37: Chr21:45713759 GRCh38: Chr21:44293876	AIRE	R456C	Polyglandular autoimmune syndrome, type 1	Uncertain significance (Sep 16, 2022)	criteria provided, single submitter
Select item 217942944.	NM_000383.4(AIRE):c.969G>C (p.Leu323=) GRCh37: Chr21:45711067 GRCh38: Chr21:44291184	AIRE		Polyglandular autoimmune syndrome, type 1	Likely benign (Dec 9, 2021)	criteria provided, single submitter
Select item 217904445.	NM_000383.4(AIRE):c.1317T>G (p.Asp439Glu) GRCh37: Chr21:45713710 GRCh38: Chr21:44293827	AIRE	D439E	Polyglandular autoimmune syndrome, type 1	Uncertain significance (Jan 3, 2022)	criteria provided, single submitter
Select item 217470546.	NM_000383.4(AIRE):c.463+5C>A GRCh37: Chr21:45707021 GRCh38: Chr21:44287138	AIRE		Polyglandular autoimmune syndrome, type 1	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 217356547.	NM_000383.4(AIRE):c.1409T>C (p.Leu470Pro) GRCh37: Chr21:45714292 GRCh38: Chr21:44294409	AIRE	L470P	Polyglandular autoimmune syndrome, type 1	Uncertain significance (Sep 26, 2022)	criteria provided, single submitter
Select item 217339548.	NM_000383.4(AIRE):c.946C>T (p.Arg316Trp) GRCh37: Chr21:45711044 GRCh38: Chr21:44291161	AIRE	R316W	Polyglandular autoimmune syndrome, type 1	Uncertain significance (Jul 11, 2022)	criteria provided, single submitter
Select item 217166049.	NM_000383.4(AIRE):c.355C>A (p.Pro119Thr) GRCh37: Chr21:45706908 GRCh38: Chr21:44287025	AIRE	P119T	Polyglandular autoimmune syndrome, type 1	Uncertain significance (Oct 25, 2022)	criteria provided, single submitter
Select item 216919950.	NM_000383.4(AIRE):c.687G>A (p.Glu229=) GRCh37: Chr21:45709574 GRCh38: Chr21:44289691	AIRE		Polyglandular autoimmune syndrome, type 1	Likely benign (Jun 13, 2022)	criteria provided, single submitter
Select item 216840251.	NM_000383.4(AIRE):c.1553C>T (p.Ser518Phe) GRCh37: Chr21:45716315 GRCh38: Chr21:44296432	AIRE	S518F	Polyglandular autoimmune syndrome, type 1	Uncertain significance (Aug 7, 2022)	criteria provided, single submitter
Select item 216821352.	NM_000383.4(AIRE):c.333G>A (p.Lys111=) GRCh37: Chr21:45706886 GRCh38: Chr21:44287003	AIRE		Polyglandular autoimmune syndrome, type 1	Likely benign (May 17, 2022)	criteria provided, single submitter
Select item 216682853.	NM_000383.4(AIRE):c.1086G>A (p.Val362=) GRCh37: Chr21:45712275 GRCh38: Chr21:44292392	AIRE		Polyglandular autoimmune syndrome, type 1	Likely benign (May 27, 2022)	criteria provided, single submitter
Select item 216437154.	NM_000383.4(AIRE):c.1578_1579inv (p.Gly527Ser) GRCh37: Chr21:45717550-45717551 GRCh38: Chr21:44297667-44297668	AIRE	G527S	Polyglandular autoimmune syndrome, type 1	Uncertain significance (Mar 13, 2022)	criteria provided, single submitter
Select item 216314855.	NM_000383.4(AIRE):c.1528G>A (p.Ala510Thr) GRCh37: Chr21:45716290 GRCh38: Chr21:44296407	AIRE	A510T	Polyglandular autoimmune syndrome, type 1	Uncertain significance (Sep 16, 2022)	criteria provided, single submitter
Select item 216093056.	NM_000383.4(AIRE):c.1401-10T>G GRCh37: Chr21:45714274 GRCh38: Chr21:44294391	AIRE		Polyglandular autoimmune syndrome, type 1	Uncertain significance (Apr 1, 2022)	criteria provided, single submitter
Select item 216044157.	NM_000383.4(AIRE):c.122A>G (p.Asp41Gly) GRCh37: Chr21:45706011 GRCh38: Chr21:44286128	AIRE	D41G	Polyglandular autoimmune syndrome, type 1	Uncertain significance (Sep 21, 2022)	criteria provided, single submitter
Select item 215951158.	NM_000383.4(AIRE):c.308-18C>T GRCh37: Chr21:45706843 GRCh38: Chr21:44286960	AIRE		Polyglandular autoimmune syndrome, type 1	Uncertain significance (Aug 29, 2022)	criteria provided, single submitter
Select item 215594159.	NM_000383.4(AIRE):c.488C>T (p.Pro163Leu) GRCh37: Chr21:45707424 GRCh38: Chr21:44287541	AIRE	P163L	Polyglandular autoimmune syndrome, type 1	Uncertain significance (Apr 20, 2022)	criteria provided, single submitter
Select item 215442560.	NM_000383.4(AIRE):c.237G>A (p.Arg79=) GRCh37: Chr21:45706544 GRCh38: Chr21:44286661	AIRE		Polyglandular autoimmune syndrome, type 1	Likely benign (Jul 17, 2022)	criteria provided, single submitter
Select item 215063961.	NM_000383.4(AIRE):c.580A>G (p.Met194Val) GRCh37: Chr21:45708269 GRCh38: Chr21:44288386	AIRE	M194V	Polyglandular autoimmune syndrome, type 1	Uncertain significance (Sep 7, 2022)	criteria provided, single submitter
Select item 214985662.	NM_000383.4(AIRE):c.1278+8G>A GRCh37: Chr21:45713066 GRCh38: Chr21:44293183	AIRE		Polyglandular autoimmune syndrome, type 1	Likely benign (Jul 17, 2022)	criteria provided, single submitter
Select item 214872763.	NM_000383.4(AIRE):c.616G>A (p.Val206Met) GRCh37: Chr21:45708305 GRCh38: Chr21:44288422	AIRE	V206M	Polyglandular autoimmune syndrome, type 1	Uncertain significance (Oct 21, 2022)	criteria provided, single submitter
Select item 214722964.	NM_000383.4(AIRE):c.907C>T (p.Arg303Trp) GRCh37: Chr21:45711005 GRCh38: Chr21:44291122	AIRE	R303W	Polyglandular autoimmune syndrome, type 1	Uncertain significance (Mar 25, 2022)	criteria provided, single submitter
Select item 214676065.	NM_000383.4(AIRE):c.187C>A (p.Leu63Met) GRCh37: Chr21:45706494 GRCh38: Chr21:44286611	AIRE	L63M	Polyglandular autoimmune syndrome, type 1	Uncertain significance (Jun 6, 2021)	criteria provided, single submitter
Select item 214665966.	NM_000383.4(AIRE):c.1504-17T>C GRCh37: Chr21:45716249 GRCh38: Chr21:44296366	AIRE		Polyglandular autoimmune syndrome, type 1	Likely benign (Mar 24, 2022)	criteria provided, single submitter
Select item 214665667.	NM_000383.4(AIRE):c.1528G>C (p.Ala510Pro) GRCh37: Chr21:45716290 GRCh38: Chr21:44296407	AIRE	A510P	Polyglandular autoimmune syndrome, type 1	Uncertain significance (Aug 16, 2022)	criteria provided, single submitter
Select item 214576668.	NM_000383.4(AIRE):c.1630C>A (p.Pro544Thr) GRCh37: Chr21:45717602 GRCh38: Chr21:44297719	AIRE	P544T	Polyglandular autoimmune syndrome, type 1	Uncertain significance (May 29, 2022)	criteria provided, single submitter
Select item 214538169.	NM_000383.4(AIRE):c.508G>A (p.Ala170Thr) GRCh37: Chr21:45707444 GRCh38: Chr21:44287561	AIRE	A170T	Inborn genetic diseases, Polyglandular autoimmune syndrome, type 1	Uncertain significance (Aug 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 214457270.	NM_000383.4(AIRE):c.1159G>A (p.Gly387Ser) GRCh37: Chr21:45712939 GRCh38: Chr21:44293056	AIRE	G387S	Inborn genetic diseases, Polyglandular autoimmune syndrome, type 1	Uncertain significance (Sep 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 214405871.	NM_000383.4(AIRE):c.133-18C>T GRCh37: Chr21:45706422 GRCh38: Chr21:44286539	AIRE		Polyglandular autoimmune syndrome, type 1	Likely benign (Feb 8, 2022)	criteria provided, single submitter
Select item 214152972.	NM_000383.4(AIRE):c.1158C>A (p.Ala386=) GRCh37: Chr21:45712938 GRCh38: Chr21:44293055	AIRE		Polyglandular autoimmune syndrome, type 1	Likely benign (Apr 28, 2022)	criteria provided, single submitter
Select item 214148773.	NM_000383.4(AIRE):c.1400+20G>A GRCh37: Chr21:45713813 GRCh38: Chr21:44293930	AIRE		Polyglandular autoimmune syndrome, type 1	Likely benign (Aug 28, 2022)	criteria provided, single submitter
Select item 213998174.	NM_000383.4(AIRE):c.1470_1490del (p.Ser491_Pro497del) GRCh37: Chr21:45714345-45714365 GRCh38: Chr21:44294462-44294482	AIRE		Polyglandular autoimmune syndrome, type 1	Uncertain significance (Dec 29, 2021)	criteria provided, single submitter
Select item 213932675.	NM_000383.4(AIRE):c.1384G>A (p.Gly462Ser) GRCh37: Chr21:45713777 GRCh38: Chr21:44293894	AIRE	G462S	Polyglandular autoimmune syndrome, type 1	Uncertain significance (Aug 12, 2022)	criteria provided, single submitter
Select item 213839876.	NM_000383.4(AIRE):c.1072C>T (p.Gln358Ter) GRCh37: Chr21:45712261 GRCh38: Chr21:44292378	AIRE	Q358*	Polyglandular autoimmune syndrome, type 1	Pathogenic (Sep 15, 2022)	criteria provided, single submitter
Select item 213839777.	NM_000383.4(AIRE):c.280C>T (p.Gln94Ter) GRCh37: Chr21:45706587 GRCh38: Chr21:44286704	AIRE	Q94*	Polyglandular autoimmune syndrome, type 1	Pathogenic (Mar 27, 2022)	criteria provided, single submitter
Select item 213839678.	NM_000383.4(AIRE):c.2T>C (p.Met1Thr) GRCh37: Chr21:45705891 GRCh38: Chr21:44286008	AIRE	M1T	Polyglandular autoimmune syndrome, type 1	Pathogenic (Aug 5, 2022)	criteria provided, single submitter
Select item 213585079.	NM_000383.4(AIRE):c.463+12G>T GRCh37: Chr21:45707028 GRCh38: Chr21:44287145	AIRE		Polyglandular autoimmune syndrome, type 1	Likely benign (May 9, 2022)	criteria provided, single submitter
Select item 213578980.	NM_000383.4(AIRE):c.1218G>A (p.Leu406=) GRCh37: Chr21:45712998 GRCh38: Chr21:44293115	AIRE		Polyglandular autoimmune syndrome, type 1	Likely benign (May 9, 2022)	criteria provided, single submitter
Select item 213495681.	NM_000383.4(AIRE):c.132+8C>T GRCh37: Chr21:45706029 GRCh38: Chr21:44286146	AIRE		Polyglandular autoimmune syndrome, type 1	Likely benign (May 7, 2022)	criteria provided, single submitter
Select item 213117482.	NM_000383.4(AIRE):c.653-8C>T GRCh37: Chr21:45709532 GRCh38: Chr21:44289649	AIRE		Polyglandular autoimmune syndrome, type 1	Likely benign (Oct 5, 2022)	criteria provided, single submitter
Select item 212584983.	NM_000383.4(AIRE):c.878del (p.Gln293fs) GRCh37: Chr21:45709950 GRCh38: Chr21:44290067	AIRE	Q293fs	Polyglandular autoimmune syndrome, type 1	Pathogenic (Jun 14, 2022)	criteria provided, single submitter
Select item 212547484.	NM_000383.4(AIRE):c.798+17C>G GRCh37: Chr21:45709702 GRCh38: Chr21:44289819	AIRE		Polyglandular autoimmune syndrome, type 1	Likely benign (Sep 7, 2022)	criteria provided, single submitter
Select item 212279085.	NM_000383.4(AIRE):c.149A>G (p.Lys50Arg) GRCh37: Chr21:45706456 GRCh38: Chr21:44286573	AIRE	K50R	Polyglandular autoimmune syndrome, type 1	Uncertain significance (May 6, 2022)	criteria provided, single submitter
Select item 212185886.	NM_000383.4(AIRE):c.1323G>C (p.Thr441=) GRCh37: Chr21:45713716 GRCh38: Chr21:44293833	AIRE		Polyglandular autoimmune syndrome, type 1	Likely benign (Sep 12, 2022)	criteria provided, single submitter
Select item 212136187.	NM_000383.4(AIRE):c.1091C>G (p.Thr364Ser) GRCh37: Chr21:45712280 GRCh38: Chr21:44292397	AIRE	T364S	Polyglandular autoimmune syndrome, type 1	Uncertain significance (Apr 4, 2022)	criteria provided, single submitter
Select item 212079788.	NM_000383.4(AIRE):c.1398C>A (p.Pro466=) GRCh37: Chr21:45713791 GRCh38: Chr21:44293908	AIRE		Polyglandular autoimmune syndrome, type 1	Likely benign (Apr 11, 2022)	criteria provided, single submitter
Select item 211880689.	NM_000383.4(AIRE):c.734A>G (p.Lys245Arg) GRCh37: Chr21:45709621 GRCh38: Chr21:44289738	AIRE	K245R	Polyglandular autoimmune syndrome, type 1	Uncertain significance (Mar 28, 2022)	criteria provided, single submitter
Select item 211854590.	NM_000383.4(AIRE):c.476A>G (p.Lys159Arg) GRCh37: Chr21:45707412 GRCh38: Chr21:44287529	AIRE	K159R	Polyglandular autoimmune syndrome, type 1	Uncertain significance (May 10, 2022)	criteria provided, single submitter
Select item 211376891.	NM_000383.4(AIRE):c.336G>T (p.Gly112=) GRCh37: Chr21:45706889 GRCh38: Chr21:44287006	AIRE		Polyglandular autoimmune syndrome, type 1	Likely benign (Mar 18, 2022)	criteria provided, single submitter
Select item 211228292.	NM_000383.4(AIRE):c.1202C>G (p.Pro401Arg) GRCh37: Chr21:45712982 GRCh38: Chr21:44293099	AIRE	P401R	Polyglandular autoimmune syndrome, type 1	Uncertain significance (Jun 24, 2022)	criteria provided, single submitter
Select item 211119293.	NM_000383.4(AIRE):c.364T>C (p.Leu122=) GRCh37: Chr21:45706917 GRCh38: Chr21:44287034	AIRE		Polyglandular autoimmune syndrome, type 1	Likely benign (Mar 13, 2022)	criteria provided, single submitter
Select item 211091894.	NM_000383.4(AIRE):c.46A>G (p.Thr16Ala) GRCh37: Chr21:45705935 GRCh38: Chr21:44286052	AIRE	T16A	Polyglandular autoimmune syndrome, type 1	Likely pathogenic (Mar 13, 2022)	criteria provided, single submitter
Select item 210828595.	NM_000383.4(AIRE):c.1555C>T (p.Leu519Phe) GRCh37: Chr21:45716317 GRCh38: Chr21:44296434	AIRE	L519F	Polyglandular autoimmune syndrome, type 1	Uncertain significance (Mar 10, 2022)	criteria provided, single submitter
Select item 210631996.	NM_000383.4(AIRE):c.463+7del GRCh37: Chr21:45707023 GRCh38: Chr21:44287140	AIRE		Polyglandular autoimmune syndrome, type 1	Likely benign (Mar 4, 2022)	criteria provided, single submitter
Select item 210529697.	NM_000383.4(AIRE):c.1503+18C>T GRCh37: Chr21:45714404 GRCh38: Chr21:44294521	AIRE		Polyglandular autoimmune syndrome, type 1	Likely benign (Mar 1, 2022)	criteria provided, single submitter
Select item 210149998.	NM_000383.4(AIRE):c.259C>T (p.Leu87=) GRCh37: Chr21:45706566 GRCh38: Chr21:44286683	AIRE		Polyglandular autoimmune syndrome, type 1	Likely benign (Feb 22, 2022)	criteria provided, single submitter
Select item 210144999.	NM_000383.4(AIRE):c.538+9G>T GRCh37: Chr21:45707483 GRCh38: Chr21:44287600	AIRE		Polyglandular autoimmune syndrome, type 1	Likely benign (Feb 22, 2022)	criteria provided, single submitter
Select item 2101163100.	NM_000383.4(AIRE):c.1515C>A (p.Ala505=) GRCh37: Chr21:45716277 GRCh38: Chr21:44296394	AIRE		Polyglandular autoimmune syndrome, type 1	Likely benign (Feb 21, 2022)	criteria provided, single submitter

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