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

Search results

Items: 100

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145984	GRCh38/hg38 21q22.11-22.3(chr21:7749532-46670346)x3	AATBC, ABCG1 +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	Polyglandular autoimmune syndrome, type 1 +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 68228	NM_000383.4(AIRE):c.62C>T (p.Ala21Val)	AIRE (A21V)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 68229	NM_000383.4(AIRE):c.83T>C (p.Leu28Pro)	AIRE (L28P)	Single nucleotide variant (missense variant)	Polyglandular autoimmune syndrome, type 1 +1 more	GPathogenic/Likely pathogenic
Select item 35669	NM_000383.4(AIRE):c.99T>C (p.Ala33=)	AIRE	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 279973	NM_000383.4(AIRE):c.132+1_132+3delinsCT	AIRE	Indel (splice donor variant)	Polyglandular autoimmune syndrome, type 1 +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)	Polyglandular autoimmune syndrome, type 1 +1 more	GPathogenic
Select item 379319	NM_000383.4(AIRE):c.274C>T (p.Arg92Trp)	AIRE (R92W)	Single nucleotide variant (missense variant)	Polyglandular autoimmune syndrome, type 1 +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)	not provided +2 more	GUncertain significance
Select item 458618	NM_000383.4(AIRE):c.348G>A (p.Pro116=)	AIRE	Single nucleotide variant (synonymous variant)	Polyglandular autoimmune syndrome, type 1 +1 more	GBenign/Likely benign
Select item 3310	NM_000383.4(AIRE):c.415C>T (p.Arg139Ter)	AIRE (R139*)	Single nucleotide variant (nonsense)	Polyglandular autoimmune syndrome, type 1 +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)	Polyglandular autoimmune syndrome, type 1 +1 more	GPathogenic
Select item 384652	NM_000383.4(AIRE):c.538+6C>T	AIRE	Single nucleotide variant (intron variant)	Polyglandular autoimmune syndrome, type 1 +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)	Polyglandular autoimmune syndrome, type 1 +1 more	GUncertain significance
Select item 128338	NM_000383.4(AIRE):c.588C>T (p.Ser196=)	AIRE	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 370839	NM_000383.4(AIRE):c.652+1G>T	AIRE	Single nucleotide variant (splice donor variant)	Polyglandular autoimmune syndrome, type 1 +1 more	GConflicting classifications of pathogenicity
Select item 35667	NM_000383.4(AIRE):c.652+14C>T	AIRE	Single nucleotide variant (intron variant)	not specified +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)	Polyglandular autoimmune syndrome, type 1 +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 +1 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)	AIRE-related disorder +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 +1 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 2065116	NM_000383.4(AIRE):c.1052G>A (p.Arg351Gln)	AIRE (R351Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 509909	NM_000383.4(AIRE):c.1053G>A (p.Arg351=)	AIRE	Single nucleotide variant (synonymous variant)	Polyglandular autoimmune syndrome, type 1 +1 more	GLikely benign
Select item 387103	NM_000383.4(AIRE):c.1095+5G>T	AIRE	Single nucleotide variant (intron variant)	Polyglandular autoimmune syndrome, type 1 +1 more	GUncertain significance
Select item 128329	NM_000383.4(AIRE):c.1095+6G>A	AIRE	Single nucleotide variant (intron variant)	Polyglandular autoimmune syndrome, type 1 +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 specified +2 more	GBenign
Select item 128336	NM_000383.4(AIRE):c.1197T>C (p.Ala399=)	AIRE	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 35657	NM_000383.4(AIRE):c.1203T>C (p.Pro401=)	AIRE	Single nucleotide variant (synonymous variant)	not specified +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)	not provided +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)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 35660	NM_000383.4(AIRE):c.1322C>T (p.Thr441Met)	AIRE (T441M)	Single nucleotide variant (missense variant)	Polyglandular autoimmune syndrome, type 1 +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)	Polyglandular autoimmune syndrome, type 1 +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)	Polyglandular autoimmune syndrome, type 1 +2 more	GBenign/Likely benign
Select item 377459	NM_000383.4(AIRE):c.1477G>A (p.Ala493Thr)	AIRE (A493T)	Single nucleotide variant (missense variant)	Polyglandular autoimmune syndrome, type 1 +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 +2 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)	Polyglandular autoimmune syndrome, type 1 +2 more	GBenign/Likely benign
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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 100