Unique variants in the AIRE gene

Information The variants shown are described using the NM_000383.3 transcript reference sequence.

205 entries on 3 pages. Showing entries 1 - 100.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
-?/? 1 1 c.-528G>A r.? p.= - likely benign g.45705362G>A g.44285479G>A - - AIRE_000199 - Lovewell et al. [2006] - - Unknown - - - - - Roberto Perniola
-?/? 1 1 c.-103C>T r.(?) p.= - likely benign g.45705787C>T g.44285904C>T - - AIRE_000211 - Lovewell et al. [2006] - - Unknown - - - - - Roberto Perniola
+/? 1 1 c.1A>G r.(?) p.0? - pathogenic g.45705890A>G g.44286007A>G - - AIRE_000002 - PubMed: Faiyaz-Ul-Haque 2009 - - Unknown - - - - - Roberto Perniola
+/? 1 1 c.1A>T r.(?) p.0? - pathogenic g.45705890A>T g.44286007A>T - - AIRE_000001 ATG>TTG PubMed: Stolarski 2006 - - Unknown - - - - - Roberto Perniola
+/? 1 1 c.2T>C r.(?) p.0? - pathogenic g.45705891T>C g.44286008T>C - - AIRE_000003 ATG>ACG PubMed: Orlova 2010 - - Unknown - - - - - Roberto Perniola
+/? 4 1 c.21_43dup r.(?) p.(Arg15Hisfs*5) - pathogenic, pathogenic (recessive) g.45705910_45705932dup g.44286027_44286049dup -, 21_43dup23 - AIRE_000004 CGC>CAC PubMed: Cihakova 2001, PubMed: Podkrajsek 2005, PubMed: Podkrajsek 2008, PubMed: Toth 2010 - - Germline, Unknown - - - - - Roberto Perniola
+/? 1 1 c.22C>T r.(?) p.(Arg8Cys) - pathogenic g.45705911C>T g.44286028C>T - - AIRE_000005 CGC>TGC PubMed: Wolff 2007 - - Unknown - - - - - Roberto Perniola
+/? 1 1 c.43C>T r.(?) p.(Arg15Cys) - pathogenic g.45705932C>T g.44286049C>T - - AIRE_000006 CGC>TGC PubMed: Sato 2002 - - Unknown - - - - - Roberto Perniola
+/? 1 1 c.44G>T r.(?) p.(Arg15Leu) - pathogenic g.45705933G>T g.44286050G>T - - AIRE_000007 CGC>CTC PubMed: Pearce 1998 - - Unknown - - - - - Roberto Perniola
+?/. 1 - c.47C>G r.(?) p.(Thr16Arg) - likely pathogenic g.45705936C>G g.44286053C>G - - AIRE_000522 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/? 6 1 c.47C>T r.(?) p.(Thr16Met) - pathogenic g.45705936C>T g.44286053C>T - - AIRE_000008 ACG>ATG Capalbo 2009 Horm Res, Valenzise 2010 Horm Res Paediatr, PubMed: Cihakova 2001, PubMed: Mazza 2011, 2 more items - - Unknown - - - - - Roberto Perniola
+/? 1 1 c.55G>A r.(?) p.(Ala19Thr) - pathogenic g.45705944G>A g.44286061G>A - - AIRE_000009 GCG>ACG PubMed: Liu 2010 - - Unknown - - - - - Roberto Perniola
+/., +/? 4 1 c.62C>T r.(?) p.(Ala21Val) - pathogenic, pathogenic (recessive) g.45705951C>T g.44286068C>T - - AIRE_000010 GCC>GTC Capalbo 2009 Horm Res, PubMed: Halonen 2002, PubMed: Mazza 2011, PubMed: Podkrajsek 2008 - - Germline, Unknown - - - - - Johan den Dunnen, Roberto Perniola
-?/., -?/? 3 1 c.63C>T r.(?) p.(Ala21=), p.Ala21 (silent) - likely benign g.45705952C>T g.44286069C>T -, AIRE(NM_000383.2):c.63C>T (p.A21=) - AIRE_000135 VKGL data sharing initiative Nederland Scott et al. [1998] - - CLASSIFICATION record, Unknown - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht, Roberto Perniola
+/? 1 1 c.64_69del r.(?) p.(Val22_Asp23del) - pathogenic g.45705953_45705958del g.44286070_44286075del - - AIRE_000011 GCC GTG GAC AGC > GCC AGC PubMed: Meloni 2005 - - Unknown - - - - - Roberto Perniola
+/? 2 1 c.83T>C r.(?) p.(Leu28Pro) - pathogenic g.45705972T>C g.44286089T>C - - AIRE_000013 CTG>CCG PubMed: Heino 1999, PubMed: Pearce 1998 - - Unknown - - - - - Roberto Perniola
+/? 1 1 c.86T>C r.(?) p.(Leu29Pro) - pathogenic g.45705975T>C g.44286092T>C - - AIRE_000014 CTG>CCG Kogawa 2002 Clin Immunol - - Unknown - - - - - Roberto Perniola
+/? 1 1 c.93_94insT r.(?) p.(Leu32Serfs*3) - pathogenic g.45705982_45705983insT g.44286099_44286100insT - - AIRE_000015 CTG>TCT PubMed: Faiyaz-Ul-Haque 2009 - - Unknown - - - - - Roberto Perniola
-/. 2 - c.99T>C r.(?) p.(Ala33=) - benign g.45705988T>C g.44286105T>C AIRE(NM_000383.2):c.99T>C (p.A33=) - AIRE_000501 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Utrecht
+/. 1 _1i_13i_ c.(?_132-57)_(1567-67_?)del r.0? p.0? - pathogenic (recessive) g.(45578081_45705964)_(45717472_?)del g.(?_44286081)_(44297589_5103720)del c.(?_68)_(1567-14_?)del - AIRE_000170 deletion does not include D21S1912 PubMed: Podkrajsek 2008 - - Germline - - - - - Roberto Perniola
+/? 1 1_4 c.132_538del r.? p.? - pathogenic g.(?_45706021)_(45707474_?)del - - - AIRE_000171 - PubMed: Cihakova 2001 - - Unknown - - - - - Roberto Perniola
+/? 1 1i c.132+1G>C r.spl p.? - pathogenic g.45706022G>C g.44286139G>C - - AIRE_000123 - Freisinger 2005 Horm Res - - Unknown - - - - - Roberto Perniola
+/? 3 1i c.[132+1G>C;132+5del] r.spl? p.? - pathogenic g.[45706022G>C;45706026del] - - - AIRE_000124 - Capalbo 2009 Horm Res, PubMed: Mazza 2011, PubMed: Stolarski 2006 - - Unknown - - - - - Roberto Perniola
?/. 1 - c.169C>G r.(?) p.(Gln57Glu) - VUS g.45706476C>G - AIRE(NM_000383.2):c.169C>G (p.Q57E) - AIRE_000558 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/? 1 2 c.191_226del r.(?) p.(Ser64_Asp76delinsTyr) - pathogenic g.45706498_45706533del g.44286615_44286650del - - AIRE_000016 TCC … GAC > TAC PubMed: Heino 1999 - - Unknown - - - - - Roberto Perniola
+/? 2 2 c.205_208dup r.(?) p.(Asp70Alafs*148) - pathogenic g.45706512_45706515dup g.44286629_44286632dup - - AIRE_000017 GAC>GCA PubMed: Faiyaz-Ul-Haque 2009, PubMed: Heino 1999 - - Unknown - - - - - Roberto Perniola
-?/., ?/? 2 2 c.226G>A r.(?) p.(Asp76Asn) - likely benign, VUS g.45706533G>A g.44286650G>A -, AIRE(NM_000383.2):c.226G>A (p.D76N) - AIRE_000018 GAC>AAC, VKGL data sharing initiative Nederland - - - CLASSIFICATION record, Unknown - - - - - VKGL-NL_Rotterdam, Roberto Perniola
+/? 1 2 c.230T>C r.(?) p.(Phe77Ser) - pathogenic g.45706537T>C g.44286654T>C - - AIRE_000019 TTC>TCC PubMed: Meloni 2005 - - Unknown - - - - - Roberto Perniola
+/? 1 2 c.232T>A r.(?) p.(Trp78Arg) - pathogenic g.45706539T>A g.44286656T>A - - AIRE_000021 - - - - Unknown - - - - - Roberto Perniola
+/? 7 2 c.232T>C r.(?) p.(Trp78Arg) - pathogenic g.45706539T>C g.44286656T>C - - AIRE_000020 TGG>CGG Capalbo 2009 Horm Res, PubMed: Cervato 2009, PubMed: Cihakova 2001, PubMed: Mazza 2011, 3 more items - - Unknown - - - - - Roberto Perniola
+/? 1 2 c.238G>T r.(?) p.(Val80Leu) - pathogenic g.45706545G>T g.44286662G>T - - AIRE_000022 GTG>TTG PubMed: Bjorses 2000 - - Unknown - - - - - Roberto Perniola
+/? 1 2 c.239T>G r.(?) p.(Val80Gly) - pathogenic g.45706546T>G g.44286663T>G - - AIRE_000023 GTG>GGG PubMed: Zaidi 2009 - - Unknown - - - - - Roberto Perniola
+/? 1 2 c.247A>G r.(?) p.(Lys83Glu) - pathogenic g.45706554A>G g.44286671A>G - - AIRE_000024 AAG>GAG PubMed: Nagamine 1997, OMIM:var0002 - - Unknown - - - - - Roberto Perniola
+/? 2 2 c.254A>G r.(?) p.(Tyr85Cys) - pathogenic g.45706561A>G g.44286678A>G - - AIRE_000025 TAC>TGC PubMed: Bjorses 2000, PubMed: Halonen 2002 - - Unknown - - - - - Roberto Perniola
+/? 2 2 c.260T>C r.(?) p.(Leu87Pro) - pathogenic g.45706567T>C g.44286684T>C - - AIRE_000026 CTG>CCG Montin 2008 Clin Exp Immunol, PubMed: Mazza 2011 - - Unknown - - - - - Roberto Perniola
+/? 1 2 c.262G>T r.(?) p.(Glu88*) - pathogenic g.45706569G>T g.44286686G>T - - AIRE_000027 GAG>TAG Cepedano Dans 2002 An Esp Pediatr - - Unknown - - - - - Roberto Perniola
+/? 1 2 c.269A>G r.(?) p.(Tyr90Cys) - pathogenic g.45706576A>G g.44286693A>G - - AIRE_000028 TAT>TGT PubMed: Pearce 1998 - - Unknown - - - - - Roberto Perniola
+/? 1 2 c.274C>T r.(?) p.(Arg92Trp) - pathogenic g.45706581C>T g.44286698C>T - - AIRE_000029 CGG>TGG PubMed: F Magitta 2008 - - Unknown - - - - - Roberto Perniola
+/? 1 2 c.278T>G r.(?) p.(Leu93Arg) - pathogenic g.45706585T>G g.44286702T>G - - AIRE_000030 CTG>CGG Ward 1999 JCEM - - Unknown - - - - - Roberto Perniola
+/? 2 2 c.290T>C r.(?) p.(Leu97Pro) - pathogenic g.45706597T>C g.44286714T>C - - AIRE_000031 CTG>CCG PubMed: Dominguez 2006, PubMed: Wolff 2007 - - Unknown - - - - - Roberto Perniola
+/? 1 2 c.306del r.(?) p.(Asp103Metfs*44) - pathogenic g.45706613del g.44286730del - - AIRE_000032 AAA GAT > AAG ATG Shin and Lee 2011 Horm Res Paediatr - - Unknown - - - - - Roberto Perniola
-?/? 1 2i c.307+61C>T r.(=) p.= - likely benign g.45706675C>T g.44286792C>T - - AIRE_000219 - Scott et al. [1998] - - Unknown - - - - - Roberto Perniola
?/? 1 3 c.342G>T r.(?) p.(Lys114Asn) - VUS g.45706895G>T g.44287012G>T - - AIRE_000033 AAG>AAT - - - Unknown - - - - - Roberto Perniola
?/? 1 3 c.347C>T r.(?) p.(Pro116Leu) - VUS g.45706900C>T g.44287017C>T - - AIRE_000034 CCG>CTG - - - Unknown - - - - - Roberto Perniola
-?/. 1 - c.348G>A r.(?) p.(Pro116=) - likely benign g.45706901G>A g.44287018G>A AIRE(NM_000383.2):c.348G>A (p.P116=) - AIRE_000529 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/? 1 3 c.352del r.(?) p.(Val118Serfs*29) - pathogenic g.45706905del g.44287022del - - AIRE_000035 GTC>TCC Jaimes Parada 2008 An Pediatr Barc - - Unknown - - - - - Roberto Perniola
-?/. 1 - c.354C>G r.(?) p.(Val118=) - likely benign g.45706907C>G g.44287024C>G AIRE(NM_000383.2):c.354C>G (p.V118=) - AIRE_000530 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.371C>T r.(?) p.(Pro124Leu) - VUS g.45706924C>T g.44287041C>T - - AIRE_000550 conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs193922417 Germline - 1/2795 individuals - - - Mohammed Faruq
-?/? 1 3 c.387C>T r.(?) p.= - likely benign g.45706940C>T g.44287057C>T - - AIRE_000141 - Tazi-Ahnini et al. [2002] - - Unknown - - - - - Roberto Perniola
+/? 1 3 c.402del r.(?) p.(Ser135Glnfs*12) - pathogenic g.45706955del g.44287072del - - AIRE_000036 GCC TCA > GCT CAG PubMed: Wolff 2007 - - Unknown - - - - - Roberto Perniola
?/? 1 3 c.415C>G r.(?) p.(Arg139Gly) - VUS g.45706968C>G g.44287085C>G - - AIRE_000037 CGA>GGA - - - Unknown - - - - - Roberto Perniola
+/? 7 3 c.415C>T r.(?) p.(Arg139*) - pathogenic g.45706968C>T g.44287085C>T - - AIRE_000038 CGA>TGA Valenzise 2010 Horm Res Paediatr, PubMed: Cervato 2009, PubMed: Cihakova 2001, PubMed: Mazza 2011, 3 more items - - Unknown - - - - - Roberto Perniola
?/? 1 3 c.428C>T r.(?) p.(Pro143Leu) - VUS g.45706981C>T g.44287098C>T - - AIRE_000039 CCA>CTA - - - Unknown - - - - - Roberto Perniola
-?/. 1 - c.454G>A r.(?) p.(Ala152Thr) - likely benign g.45707007G>A g.44287124G>A AIRE(NM_000383.2):c.454G>A (p.A152T) - AIRE_000551 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.457A>G r.(?) p.(Ser153Gly) - likely benign g.45707010A>G - AIRE(NM_000383.2):c.457A>G (p.S153G) - AIRE_000559 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/? 1 3 c.462A>T r.spl? p.(?) - likely pathogenic (recessive) g.45707015A>T g.44287132A>T - - AIRE_000142 - PubMed: Podkrajsek 2008 - - De novo - - - - - Roberto Perniola
+/?, +?/. 2 3 c.463G>A r.(?) p.(Gly155Ser) - likely pathogenic, pathogenic g.45707016G>A g.44287133G>A - - AIRE_000040 1 heterozygous, no homozygous; Clinindb (India), GGC>AGC PubMed: Narang 2020, Journal: Narang 2020, PubMed: von Schnurbein 2008 - rs193922418 Germline, Unknown - 1/2793 individuals - - - Roberto Perniola, Mohammed Faruq
+/? 2 3i c.463+2T>C r.(spl?) p.? - pathogenic g.45707018T>C g.44287135T>C - - AIRE_000126 - PubMed: Dominguez 2006, PubMed: Wang 1998 - - Unknown - - - - - Roberto Perniola
-?/. 1 - c.464-16del r.(=) p.(=) - likely benign g.45707384del - AIRE(NM_000383.2):c.464-16delC - AIRE_000562 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.479C>T r.(?) p.(Ala160Val) - VUS g.45707415C>T g.44287532C>T AIRE(NM_000383.2):c.479C>T (p.A160V) - AIRE_000552 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/? 1 4 c.485C>T r.(?) p.(Pro162Leu) - VUS g.45707421C>T g.44287538C>T - - AIRE_000041 CCC>CTC - - - Unknown - - - - - Roberto Perniola
+/. 1 - c.489del r.(?) p.(Lys164ArgfsTer214) - pathogenic g.45707425del g.44287542del AIRE(NM_000383.2):c.489delC (p.K164Rfs*214) - AIRE_000544 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/? 1 4 c.497C>T r.(?) p.(Pro166Leu) - VUS g.45707433C>T g.44287550C>T - - AIRE_000042 CCG>CTG - - - Unknown - - - - - Roberto Perniola
+/? 1 4 c.508_509ins13 r.? p.(Ala170...fs*51) - pathogenic g.45707444_45707445ins13 - - - AIRE_000043 - PubMed: Bjorses 2000 - - Unknown - - - - - Roberto Perniola
+/? 2 4 c.517C>T r.(?) p.(Gln173*) - pathogenic g.45707453C>T g.44287570C>T - - AIRE_000044 CAG>TAG PubMed: Bjorses 2000, PubMed: Heino 1999 - - Unknown - - - - - Roberto Perniola
-?/., ?/? 2 4 c.521G>A r.(?) p.(Arg174His) - likely benign, VUS g.45707457G>A g.44287574G>A -, AIRE(NM_000383.2):c.521G>A (p.R174H) - AIRE_000045 CGC>CAC, VKGL data sharing initiative Nederland - - - CLASSIFICATION record, Unknown - - - - - VKGL-NL_Utrecht, Roberto Perniola
-?/. 2 - c.531C>T r.(?) p.(Leu177=) - likely benign g.45707467C>T g.44287584C>T AIRE(NM_000383.2):c.531C>T (p.L177=) - AIRE_000503 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
-?/? 1 4i c.538+42A>G r.(=) p.= - likely benign g.45707516A>G g.44287633A>G - - AIRE_000228 - Tazi-Ahnini et al. [2002] - - Unknown - - - - - Roberto Perniola
-?/? 1 4i c.538+49A>G r.(=) p.= - likely benign g.45707523A>G g.44287640A>G - - AIRE_000230 - Tazi-Ahnini et al. [2002] - - Unknown - - - - - Roberto Perniola
-?/? 1 4i c.539-46A>G r.(=) p.= - likely benign g.45708182A>G g.44288299A>G - - AIRE_000248 - Tazi-Ahnini et al. [2002] - - Unknown - - - - - Roberto Perniola
+/? 1 5 c.540del r.(?) p.(Ile181Phefs*197) - pathogenic g.45708229del g.44288346del - - AIRE_000046 GGG ATT > GGA TTC PubMed: Podkrajsek 2005 - - Unknown - - - - - Roberto Perniola
-/., -?/., ?/? 4 5 c.548C>A r.(?) p.(Thr183Asn) - benign, likely benign, VUS g.45708237C>A g.44288354C>A -, AIRE(NM_000383.2):c.548C>A (p.T183N), AIRE(NM_000383.3):c.548C>A (p.(Thr183Asn)) - AIRE_000047 ACC>AAC, VKGL data sharing initiative Nederland - - - CLASSIFICATION record, Unknown - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_Utrecht, Roberto Perniola
?/? 1 5 c.560C>T r.(?) p.(Ser187Leu) - VUS g.45708249C>T g.44288366C>T - - AIRE_000048 TCA>TTA - - - Unknown - - - - - Roberto Perniola
-/. 4 - c.588C>T r.(=), r.(?) p.(=), p.(Ser196=) - benign, likely benign g.45708277C>T g.44288394C>T AIRE(NM_000383.2):c.588C>T (p.S196=) - AIRE_000505 VKGL data sharing initiative Nederland PubMed: Podkrajsek 2008 - - CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_Nijmegen
-?/., ?/? 2 5 c.589G>A r.(?) p.(Gly197Arg) - likely benign, VUS g.45708278G>A g.44288395G>A -, AIRE(NM_000383.3):c.589G>A (p.(Gly197Arg)) - AIRE_000049 GGG>AGG, VKGL data sharing initiative Nederland - - - CLASSIFICATION record, Unknown - - - - - VKGL-NL_Leiden, Roberto Perniola
?/? 1 5 c.595G>A r.(?) p.(Val199Ile) - VUS g.45708284G>A g.44288401G>A - - AIRE_000050 GTC>ATC Nejentsev 2009 Science - - Unknown - - - - - Roberto Perniola
?/? 1 5 c.599C>T r.(?) p.(Pro200Leu) - VUS g.45708288C>T g.44288405C>T - - AIRE_000051 CCG>CTG - - - Unknown - - - - - Roberto Perniola
-?/. 1 - c.600G>A r.(?) p.(Pro200=) - likely benign g.45708289G>A g.44288406G>A AIRE(NM_000383.2):c.600G>A (p.P200=) - AIRE_000533 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/? 7 5 c.607C>T r.(?) p.(Arg203*) - pathogenic g.45708296C>T g.44288413C>T - - AIRE_000052 CGA>TGA Valenzise 2010 Horm Res Paediatr, PubMed: Bjorses 2000, PubMed: Cervato 2009, PubMed: Cervato 2010, 3 more items - - Unknown - - - - - Roberto Perniola
-?/? 1 5 c.615C>T r.(?) p.= - likely benign g.45708304C>T g.44288421C>T - - AIRE_000146 - - - - Unknown - - - - - Roberto Perniola
-?/. 1 - c.652+14C>T r.(=) p.(=) - likely benign g.45708355C>T g.44288472C>T AIRE(NM_000383.2):c.652+14C>T - AIRE_000506 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/? 1 5i c.652+44G>A r.(=) p.= - likely benign g.45708385G>A g.44288502G>A - - AIRE_000252 - Tazi-Ahnini et al. [2002] - - Unknown - - - - - Roberto Perniola
+/? 1 5i c.653-6_653-4del r.(spl?) p.? - pathogenic g.45709534_45709536del g.44289651_44289653del c.653-7_653-5del - AIRE_000127 - PubMed: Podkrajsek 2005 - - Unknown - - - - - Roberto Perniola
-?/. 1 - c.654C>T r.(?) p.(Gly218=) - likely benign g.45709541C>T g.44289658C>T AIRE(NM_000383.2):c.654C>T (p.G218=) - AIRE_000507 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/? 1 6 c.655G>A r.(?) p.(Gly219Ser) - VUS g.45709542G>A g.44289659G>A - - AIRE_000053 GGC>AGC - - - Unknown - - - - - Roberto Perniola
-/. 3 - c.681C>T r.(?) p.(Gly227=) - benign g.45709568C>T g.44289685C>T AIRE(NM_000383.2):c.681C>T (p.G227=) - AIRE_000508 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_Nijmegen
+/., +/? 2 6 c.682G>T r.(?) p.(Gly228Trp) - pathogenic g.45709569G>T g.44289686G>T - - AIRE_000054 1 heterozygous, no homozygous; Clinindb (India), GGG>TGG PubMed: Cetani 2001, PubMed: Narang 2020, Journal: Narang 2020 - rs121434257 Germline, Unknown - 1/2795 individuals - - - Roberto Perniola, Mohammed Faruq
-?/. 2 - c.705G>A r.(?) p.(Lys235=) - likely benign g.45709592G>A g.44289709G>A AIRE(NM_000383.2):c.705G>A (p.K235=) - AIRE_000509 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
?/? 1 6 c.718G>A r.(?) p.(Gly240Ser) - VUS g.45709605G>A g.44289722G>A - - AIRE_000055 GGC>AGC - - - Unknown - - - - - Roberto Perniola
?/? 1 6 c.739C>T r.(?) p.(Arg247Cys) - VUS g.45709626C>T g.44289743C>T - - AIRE_000056 CGC>TGC - - - Unknown - - - - - Roberto Perniola
?/? 1 6 c.748A>T r.(?) p.(Ser250Cys) - VUS g.45709635A>T g.44289752A>T - - AIRE_000057 AGT>TGT - - - Unknown - - - - - Roberto Perniola
+/?, -?/. 2 6 c.755C>T r.(?) p.(Pro252Leu) - likely benign, pathogenic g.45709642C>T g.44289759C>T -, AIRE(NM_000383.2):c.755C>T (p.P252L) - AIRE_000058 CCG>CTG, VKGL data sharing initiative Nederland PubMed: Meloni 2002 - - CLASSIFICATION record, Unknown - - - - - VKGL-NL_Utrecht, Roberto Perniola
-?/. 1 - c.756G>A r.(?) p.(Pro252=) - likely benign g.45709643G>A g.44289760G>A AIRE(NM_000383.2):c.756G>A (p.P252=) - AIRE_000534 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/., +/? 42 6 c.769C>T r.(?) p.(Arg257*), p.(Arg257Ter) ACMG pathogenic, pathogenic (recessive) g.45709656C>T g.44289773C>T -, AIRE(NM_000383.2):c.769C>T (p.R257*) - AIRE_000000, AIRE_000059 ACMG grading: PVS1,PS3,PS4,PP5, CGA>TGA, founder haplotype Finland, GCC>GTC, 3 more items F&G APECED et al. 1997. Nat Genet 17: 399, Freisinger 2005 Horm Res, Lankisch 2005 J Pediatr, 26 more items - rs121434254 CLASSIFICATION record, Germline, Unknown - 1/7 patients, 5/16 patients, 6/7 patients, several patients - - - Johan den Dunnen, Andreas Laner, VKGL-NL_Utrecht, Roberto Perniola
-?/. 1 - c.789C>T r.(?) p.(Gly263=) - likely benign g.45709676C>T g.44289793C>T AIRE(NM_000383.2):c.789C>T (p.G263=) - AIRE_000545 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/? 1 6 c.789del r.(?) p.(Ala264Leufs*114) - pathogenic g.45709676del g.44289793del - - AIRE_000060 GGC GCT > GGG CTG Vogel 2003 Exp Clin Endocrinol Diabetes, Harris 2003 JCEM - - Unknown - - - - - Roberto Perniola
?/? 1 6 c.793G>A r.(?) p.(Ala265Thr) - VUS g.45709680G>A g.44289797G>A - - AIRE_000061 GCC>ACC - - - Unknown - - - - - Roberto Perniola
-?/. 1 - c.798C>G r.(?) p.(Pro266=) - likely benign g.45709685C>G - AIRE(NM_000383.2):c.798C>G (p.P266=) - AIRE_000553 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/? 1 6 c.798del r.(?) p.(Gly267Valfs*111) - pathogenic g.45709685del g.44289802del - - AIRE_000062 CCC GGT > CCG GTG Brachet Horm Res 2009 - - Unknown - - - - - Roberto Perniola
-/. 1 - c.798+82C>G r.(=) p.(=) - benign g.45709767C>G g.44289884C>G - - AIRE_000535 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
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