"GeneDx"[submitter] AND "AIRE"[gene] - ClinVar

Search results

Items: 97

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145984	GRCh38/hg38 21q22.11-22.3(chr21:7749532-46670346)x3	LOC130066758, LOC130066759 +1159 more	Copy number gain	See cases	GPathogenic
Select item 1287577	NC_000021.9:g.44285603G>C	AIRE	Single nucleotide variant	not provided	GBenign
Select item 1165016	NC_000021.9:g.44285777T>C	AIRE	Single nucleotide variant	not provided +1 more	GBenign
Select item 1283137	NM_000383.4(AIRE):c.-77C>A	AIRE	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1292092	NM_000383.4(AIRE):c.-41C>A	AIRE	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 372599	NM_000383.4(AIRE):c.26G>C (p.Arg9Pro)	AIRE (R9P)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 429854	NM_000383.4(AIRE):c.34A>G (p.Arg12Gly)	AIRE (R12G)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 68229	NM_000383.4(AIRE):c.83T>C (p.Leu28Pro)	AIRE (L28P)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 35669	NM_000383.4(AIRE):c.99T>C (p.Ala33=)	AIRE	Single nucleotide variant (synonymous variant)	Polyglandular autoimmune syndrome, type 1 +2 more	GBenign
Select item 279973	NM_000383.4(AIRE):c.132+1_132+3delinsCT	AIRE	Indel (splice donor variant)	not provided +1 more	GPathogenic
Select item 1291961	NM_000383.4(AIRE):c.133-91C>T	AIRE	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 279673	NM_000383.4(AIRE):c.199_202delinsTGG (p.Leu67fs)	AIRE (L67fs)	Indel (frameshift variant)	not provided	GPathogenic
Select item 279674	NM_000383.4(AIRE):c.205_208dup (p.Asp70fs)	AIRE (D70fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic
Select item 189060	NM_000383.4(AIRE):c.232T>C (p.Trp78Arg)	AIRE (W78R)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 379319	NM_000383.4(AIRE):c.274C>T (p.Arg92Trp)	AIRE (R92W)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2501923	NM_000383.4(AIRE):c.278T>A (p.Leu93Gln)	AIRE (L93Q)	Single nucleotide variant (missense variant)	Polyglandular autoimmune syndrome, type 1 +1 more	GConflicting classifications of pathogenicity
Select item 1237878	NM_000383.4(AIRE):c.308-123T>C	AIRE	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 35663	NM_000383.4(AIRE):c.342G>T (p.Lys114Asn)	AIRE (K114N)	Single nucleotide variant (missense variant)	Polyglandular autoimmune syndrome, type 1 +2 more	GUncertain significance
Select item 458618	NM_000383.4(AIRE):c.348G>A (p.Pro116=)	AIRE	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 3310	NM_000383.4(AIRE):c.415C>T (p.Arg139Ter)	AIRE (R139*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 188800	NM_000383.4(AIRE):c.463+2T>C	AIRE	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 424080	NM_000383.4(AIRE):c.510_522dup (p.Leu175fs)	AIRE (L175fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic
Select item 384652	NM_000383.4(AIRE):c.538+6C>T	AIRE	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1232418	NM_000383.4(AIRE):c.538+51G>T	AIRE	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225320	NM_000383.4(AIRE):c.539-252T>C	AIRE	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268646	NM_000383.4(AIRE):c.539-207T>A	AIRE	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 847607	NM_000383.4(AIRE):c.545A>C (p.Gln182Pro)	AIRE (Q182P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 128338	NM_000383.4(AIRE):c.588C>T (p.Ser196=)	AIRE	Single nucleotide variant (synonymous variant)	Polyglandular autoimmune syndrome, type 1 +2 more	GBenign
Select item 35667	NM_000383.4(AIRE):c.652+14C>T	AIRE	Single nucleotide variant (intron variant)	Polyglandular autoimmune syndrome, type 1 +2 more	GConflicting classifications of pathogenicity
Select item 1247733	NM_000383.4(AIRE):c.653-302G>A	AIRE	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257739	NM_000383.4(AIRE):c.653-201C>T	AIRE	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252494	NM_000383.4(AIRE):c.653-145C>T	AIRE	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 128339	NM_000383.4(AIRE):c.681C>T (p.Gly227=)	AIRE	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 3307	NM_000383.4(AIRE):c.769C>T (p.Arg257Ter)	AIRE (R257*)	Single nucleotide variant (nonsense)	Polyglandular autoimmune syndrome, type 1 +2 more	GPathogenic
Select item 128335	NM_000383.4(AIRE):c.789C>T (p.Gly263=)	AIRE	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 372300	NM_000383.4(AIRE):c.823del (p.Gln275fs)	AIRE (Q275fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 128340	NM_000383.4(AIRE):c.834C>G (p.Ser278Arg)	AIRE (S278R)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 2504735	NM_000383.4(AIRE):c.838C>T (p.Pro280Ser)	AIRE (P280S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1222308	NM_000383.4(AIRE):c.879+101G>A	AIRE	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262941	NM_000383.4(AIRE):c.879+156T>C	AIRE	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253492	NM_000383.4(AIRE):c.879+459C>G	AIRE	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227538	NM_000383.4(AIRE):c.880-450G>C	AIRE	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229719	NM_000383.4(AIRE):c.880-297G>A	AIRE	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 265028	NM_000383.4(AIRE):c.901G>A (p.Val301Met)	AIRE (V301M)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1217643	NM_000383.4(AIRE):c.916G>A (p.Gly306Arg)	AIRE (G306R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 967385	NM_000383.4(AIRE):c.927C>G (p.Ile309Met)	AIRE (I309M)	Single nucleotide variant (missense variant)	Polyglandular autoimmune syndrome, type 1 +1 more	GUncertain significance
Select item 3309	NM_000383.4(AIRE):c.967_979del (p.Leu323fs)	AIRE (L323fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1806643	NM_000383.4(AIRE):c.974C>T (p.Pro325Leu)	AIRE (P325L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2501925	NM_000383.4(AIRE):c.979C>T (p.Leu327Phe)	AIRE (L327F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2578311	NM_000383.4(AIRE):c.992C>T (p.Pro331Leu)	AIRE (P331L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1184788	NM_000383.4(AIRE):c.995+109A>G	AIRE	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1292148	NM_000383.4(AIRE):c.995+139G>T	AIRE	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 509909	NM_000383.4(AIRE):c.1053G>A (p.Arg351=)	AIRE	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 387103	NM_000383.4(AIRE):c.1095+5G>T	AIRE	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 128329	NM_000383.4(AIRE):c.1095+6G>A	AIRE	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 803633	NM_000383.4(AIRE):c.1095+78del	AIRE	Deletion (intron variant)	not specified +2 more	GBenign
Select item 1184789	NM_000383.4(AIRE):c.1096-288G>A	AIRE	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 128330	NM_000383.4(AIRE):c.1096-9G>C	AIRE	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 128336	NM_000383.4(AIRE):c.1197T>C (p.Ala399=)	AIRE	Single nucleotide variant (synonymous variant)	Polyglandular autoimmune syndrome, type 1 +2 more	GBenign
Select item 35657	NM_000383.4(AIRE):c.1203T>C (p.Pro401=)	AIRE	Single nucleotide variant (synonymous variant)	Polyglandular autoimmune syndrome, type 1 +2 more	GBenign
Select item 818051	NM_000383.4(AIRE):c.1214_1215delinsT (p.Pro405fs)	AIRE (P405fs)	Indel (frameshift variant)	not provided	GLikely pathogenic
Select item 458613	NM_000383.4(AIRE):c.1215G>A (p.Pro405=)	AIRE	Single nucleotide variant (synonymous variant)	Polyglandular autoimmune syndrome, type 1 +1 more	GLikely benign
Select item 188935	NM_000383.4(AIRE):c.1249dup (p.Leu417fs)	AIRE (L417fs)	Duplication (frameshift variant)	Polyglandular autoimmune syndrome, type 1 +1 more	GPathogenic/Likely pathogenic
Select item 265456	NM_000383.4(AIRE):c.1265del (p.Pro422fs)	AIRE (P422fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 1274837	NM_000383.4(AIRE):c.1278+279G>A	AIRE	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 585381	NM_000383.4(AIRE):c.1295_1296insA (p.Arg433fs)	AIRE (R433fs)	Insertion (frameshift variant)	Polyglandular autoimmune syndrome, type 1 +1 more	GPathogenic/Likely pathogenic
Select item 35660	NM_000383.4(AIRE):c.1322C>T (p.Thr441Met)	AIRE (T441M)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 377458	NM_000383.4(AIRE):c.1345T>C (p.Cys449Arg)	AIRE (C449R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 387341	NM_000383.4(AIRE):c.1370G>A (p.Cys457Tyr)	AIRE (C457Y)	Single nucleotide variant (missense variant)	Polyglandular autoimmune syndrome, type 1 +1 more	GUncertain significance
Select item 1809875	NM_000383.4(AIRE):c.1393C>T (p.Arg465Trp)	AIRE (R465W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1178267	NM_000383.4(AIRE):c.1400+83A>C	AIRE	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252226	NM_000383.4(AIRE):c.1400+227C>T	AIRE	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257477	NM_000383.4(AIRE):c.1401-28G>C	AIRE	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 128332	NM_000383.4(AIRE):c.1411C>T (p.Arg471Cys)	AIRE (R471C)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 255971	NM_000383.4(AIRE):c.1476C>T (p.Pro492=)	AIRE	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 377459	NM_000383.4(AIRE):c.1477G>A (p.Ala493Thr)	AIRE (A493T)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 458616	NM_000383.4(AIRE):c.1483C>T (p.Leu495=)	AIRE	Single nucleotide variant (synonymous variant)	Polyglandular autoimmune syndrome, type 1 +3 more	GBenign/Likely benign
Select item 1292192	NM_000383.4(AIRE):c.1503+134T>A	AIRE	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269490	NM_000383.4(AIRE):c.1503+134T>C	AIRE	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222247	NM_000383.4(AIRE):c.1503+236G>A	AIRE	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266730	NM_000383.4(AIRE):c.1504-275G>A	AIRE	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1223195	NM_000383.4(AIRE):c.1504-131G>A	AIRE	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1292191	NM_000383.4(AIRE):c.1504-67T>C	AIRE, LOC130066813	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262809	NM_000383.4(AIRE):c.1504-55A>G	AIRE, LOC130066813	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 446817	NM_000383.4(AIRE):c.1566+8C>T	AIRE	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1232244	NM_000383.4(AIRE):c.1566+204T>C	AIRE	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275037	NM_000383.4(AIRE):c.1566+219dup	AIRE	Duplication (intron variant)	not provided	GBenign
Select item 1285849	NM_000383.4(AIRE):c.1566+220G>A	AIRE	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288353	NM_000383.4(AIRE):c.1567-292G>A	AIRE	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268060	NM_000383.4(AIRE):c.1567-127G>A	AIRE	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 35662	NM_000383.4(AIRE):c.1567-5C>T	AIRE	Single nucleotide variant (intron variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 128337	NM_000383.4(AIRE):c.1578T>C (p.Asp526=)	AIRE	Single nucleotide variant (synonymous variant)	Polyglandular autoimmune syndrome, type 1 +2 more	GBenign
Select item 68218	NM_000383.4(AIRE):c.1616C>T (p.Pro539Leu)	AIRE (P539L)	Single nucleotide variant (missense variant)	Polyglandular autoimmune syndrome, type 1 +1 more	GPathogenic/Likely pathogenic
Select item 1258579	NM_000383.4(AIRE):c.*79C>G	AIRE	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 253975	GRCh37/hg19 21q22.3(chr21:44264486-45945979)x1	RRP1B, LRRC3 +22 more	Copy number loss	See cases	GUncertain significance
Select item 253512	GRCh37/hg19 21q11.2-22.3(chr21:15538655-48080926)x1	ABCG1, ADAMTS1 +216 more	Copy number loss	See cases	GPathogenic
Select item 253403	GRCh37/hg19 21q11.2-22.3(chr21:15410701-48090317)x3	ABCG1, ADAMTS1 +216 more	Copy number gain	See cases	GPathogenic

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Items: 97