AIRE[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 555984	NM_000383.3(AIRE):c.-653_-649dup	AIRE	Duplication	Polyglandular autoimmune syndrome, type 1	GUncertain significance
Select item 554053	NM_000383.3(AIRE):c.-656_-655insCCC	AIRE	Insertion	Polyglandular autoimmune syndrome, type 1	GUncertain significance
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 556520	NM_000383.4(AIRE):c.-24_1del (p.Met1fs)	AIRE (M1fs)	Deletion (frameshift variant +1 more)	Polyglandular autoimmune syndrome, type 1	GUncertain significance
Select item 954404	NM_000383.4(AIRE):c.-17_27del (p.Met1fs)	AIRE (M1fs)	Deletion (frameshift variant +1 more)	Polyglandular autoimmune syndrome, type 1	GPathogenic
Select item 989627	NM_000383.4(AIRE):c.-4C>A	AIRE	Single nucleotide variant (5 prime UTR variant)	Polyglandular autoimmune syndrome, type 1	GUncertain significance
Select item 551136	NM_000383.4(AIRE):c.1A>G (p.Met1Val)	AIRE (M1V)	Single nucleotide variant (missense variant +1 more)	Polyglandular autoimmune syndrome, type 1 +1 more	GPathogenic/Likely pathogenic
Select item 3314	NM_000383.4(AIRE):c.1A>T (p.Met1Leu)	AIRE (M1L)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic
Select item 2138396	NM_000383.4(AIRE):c.2T>C (p.Met1Thr)	AIRE (M1T)	Single nucleotide variant (missense variant +1 more)	Polyglandular autoimmune syndrome, type 1	GPathogenic
Select item 1451244	NM_000383.4(AIRE):c.2T>G (p.Met1Arg)	AIRE (M1R)	Single nucleotide variant (missense variant +1 more)	Polyglandular autoimmune syndrome, type 1	GPathogenic
Select item 1322985	NM_000383.4(AIRE):c.2T>A (p.Met1Lys)	AIRE (M1K)	Single nucleotide variant (missense variant +1 more)	Polyglandular autoimmune syndrome, type 1	GPathogenic
Select item 2230237	NM_000383.4(AIRE):c.7A>C (p.Thr3Pro)	AIRE (T3P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2886283	NM_000383.4(AIRE):c.9G>A (p.Thr3=)	AIRE	Single nucleotide variant (synonymous variant)	Polyglandular autoimmune syndrome, type 1	GLikely benign
Select item 1968263	NM_000383.4(AIRE):c.9G>C (p.Thr3=)	AIRE	Single nucleotide variant (synonymous variant)	Polyglandular autoimmune syndrome, type 1	GLikely benign
Select item 646730	NM_000383.4(AIRE):c.10G>A (p.Asp4Asn)	AIRE (D4N)	Single nucleotide variant (missense variant)	Polyglandular autoimmune syndrome, type 1	GUncertain significance
Select item 2251109	NM_000383.4(AIRE):c.11A>C (p.Asp4Ala)	AIRE (D4A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1385133	NM_000383.4(AIRE):c.11A>T (p.Asp4Val)	AIRE (D4V)	Single nucleotide variant (missense variant)	Polyglandular autoimmune syndrome, type 1	GUncertain significance
Select item 1458570	NM_000383.4(AIRE):c.14_15del (p.Ala5fs)	AIRE (A5fs)	Microsatellite (frameshift variant)	Polyglandular autoimmune syndrome, type 1	GPathogenic
Select item 1141810	NM_000383.4(AIRE):c.12C>T (p.Asp4=)	AIRE	Single nucleotide variant (synonymous variant)	Polyglandular autoimmune syndrome, type 1	GLikely benign
Select item 2187127	NM_000383.4(AIRE):c.13G>A (p.Ala5Thr)	AIRE (A5T)	Single nucleotide variant (missense variant)	Polyglandular autoimmune syndrome, type 1	GUncertain significance
Select item 1411056	NM_000383.4(AIRE):c.13_14delinsTT (p.Ala5Leu)	AIRE (A5L)	Indel (missense variant)	Polyglandular autoimmune syndrome, type 1	GUncertain significance
Select item 2734848	NM_000383.4(AIRE):c.15G>T (p.Ala5=)	AIRE	Single nucleotide variant (synonymous variant)	Polyglandular autoimmune syndrome, type 1	GLikely benign
Select item 556137	NM_000383.4(AIRE):c.20_24del (p.Leu7fs)	AIRE (L7fs)	Deletion (frameshift variant)	Polyglandular autoimmune syndrome, type 1	GLikely pathogenic
Select item 708862	NM_000383.4(AIRE):c.18G>C (p.Ala6=)	AIRE	Single nucleotide variant (synonymous variant)	Polyglandular autoimmune syndrome, type 1	GLikely benign
Select item 2580370	NM_000383.4(AIRE):c.20_115del (p.Leu7_Val38del)	AIRE	Deletion (inframe_deletion)	Polyglandular autoimmune syndrome, type 1	GPathogenic
Select item 636457	NM_000383.4(AIRE):c.21_43dup (p.Arg15delinsHisAlaGlyPheTer)	AIRE	Duplication (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2830432	NM_000383.4(AIRE):c.21A>C (p.Leu7=)	AIRE	Single nucleotide variant (synonymous variant)	Polyglandular autoimmune syndrome, type 1	GLikely benign
Select item 1079683	NM_000383.4(AIRE):c.21A>G (p.Leu7=)	AIRE	Single nucleotide variant (synonymous variant)	Polyglandular autoimmune syndrome, type 1	GLikely benign
Select item 552873	NM_000383.4(AIRE):c.22C>T (p.Arg8Cys)	AIRE (R8C)	Single nucleotide variant (missense variant)	Polyglandular autoimmune syndrome, type 1 +1 more	GConflicting classifications of pathogenicity
Select item 2796176	NM_000383.4(AIRE):c.23G>A (p.Arg8His)	AIRE (R8H)	Single nucleotide variant (missense variant)	Polyglandular autoimmune syndrome, type 1	GLikely pathogenic
Select item 2720774	NM_000383.4(AIRE):c.24C>G (p.Arg8=)	AIRE	Single nucleotide variant (synonymous variant)	Polyglandular autoimmune syndrome, type 1	GLikely benign
Select item 973615	NM_000383.4(AIRE):c.25C>T (p.Arg9Trp)	AIRE (R9W)	Single nucleotide variant (missense variant)	Polyglandular autoimmune syndrome, type 1	GLikely pathogenic
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 2854213	NM_000383.4(AIRE):c.27G>T (p.Arg9=)	AIRE	Single nucleotide variant (synonymous variant)	Polyglandular autoimmune syndrome, type 1	GLikely benign
Select item 1627071	NM_000383.4(AIRE):c.30T>C (p.Leu10=)	AIRE	Single nucleotide variant (synonymous variant)	Polyglandular autoimmune syndrome, type 1	GLikely benign
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 1415983	NM_000383.4(AIRE):c.36del (p.Arg12fs)	AIRE (R12fs)	Deletion (frameshift variant)	Polyglandular autoimmune syndrome, type 1	GPathogenic
Select item 2808045	NM_000383.4(AIRE):c.41A>C (p.His14Pro)	AIRE (H14P)	Single nucleotide variant (missense variant)	Polyglandular autoimmune syndrome, type 1	GUncertain significance
Select item 1140472	NM_000383.4(AIRE):c.42C>T (p.His14=)	AIRE	Single nucleotide variant (synonymous variant)	Polyglandular autoimmune syndrome, type 1	GLikely benign
Select item 1481156	NM_000383.4(AIRE):c.43C>G (p.Arg15Gly)	AIRE (R15G)	Single nucleotide variant (missense variant)	Polyglandular autoimmune syndrome, type 1	GLikely pathogenic
Select item 68225	NM_000383.4(AIRE):c.43C>T (p.Arg15Cys)	AIRE (R15C)	Single nucleotide variant (missense variant)	Polyglandular autoimmune syndrome, type 1	GConflicting classifications of pathogenicity
Select item 1021824	NM_000383.4(AIRE):c.46_63dup (p.Thr16_Ala21dup)	AIRE	Duplication (inframe_insertion)	Polyglandular autoimmune syndrome, type 1	GUncertain significance
Select item 992986	NM_000383.4(AIRE):c.44G>A (p.Arg15His)	AIRE (R15H)	Single nucleotide variant (missense variant)	Polyglandular autoimmune syndrome, type 1	GPathogenic
Select item 68226	NM_000383.4(AIRE):c.44G>T (p.Arg15Leu)	AIRE (R15L)	Single nucleotide variant (missense variant)	Polyglandular autoimmune syndrome, type 1	GPathogenic
Select item 1979417	NM_000383.4(AIRE):c.45C>T (p.Arg15=)	AIRE	Single nucleotide variant (synonymous variant)	Polyglandular autoimmune syndrome, type 1	GLikely benign
Select item 2110918	NM_000383.4(AIRE):c.46A>G (p.Thr16Ala)	AIRE (T16A)	Single nucleotide variant (missense variant)	Polyglandular autoimmune syndrome, type 1	GLikely pathogenic
Select item 3251578	NM_000383.4(AIRE):c.47C>G (p.Thr16Arg)	AIRE (T16R)	Single nucleotide variant (missense variant)	Polyglandular autoimmune syndrome, type 1	GLikely pathogenic
Select item 68227	NM_000383.4(AIRE):c.47C>T (p.Thr16Met)	AIRE (T16M)	Single nucleotide variant (missense variant)	Polyglandular autoimmune syndrome, type 1	GPathogenic
Select item 1139531	NM_000383.4(AIRE):c.48G>C (p.Thr16=)	AIRE	Single nucleotide variant (synonymous variant)	Polyglandular autoimmune syndrome, type 1	GLikely benign
Select item 862567	NM_000383.4(AIRE):c.51G>C (p.Glu17Asp)	AIRE (E17D)	Single nucleotide variant (missense variant)	Polyglandular autoimmune syndrome, type 1	GUncertain significance
Select item 2030154	NM_000383.4(AIRE):c.54C>G (p.Ile18Met)	AIRE (I18M)	Single nucleotide variant (missense variant)	Polyglandular autoimmune syndrome, type 1	GLikely pathogenic
Select item 553601	NM_000383.4(AIRE):c.55G>A (p.Ala19Thr)	AIRE (A19T)	Single nucleotide variant (missense variant)	Polyglandular autoimmune syndrome, type 1	GUncertain significance
Select item 1157296	NM_000383.4(AIRE):c.57G>A (p.Ala19=)	AIRE	Single nucleotide variant (synonymous variant)	Polyglandular autoimmune syndrome, type 1 +1 more	GLikely benign
Select item 1724171	NM_000383.4(AIRE):c.61del (p.Ala21fs)	AIRE (A21fs)	Deletion (frameshift variant)	Polyglandular autoimmune syndrome, type 1	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 1591048	NM_000383.4(AIRE):c.63C>G (p.Ala21=)	AIRE	Single nucleotide variant (synonymous variant)	Polyglandular autoimmune syndrome, type 1	GLikely benign
Select item 1528053	NM_000383.4(AIRE):c.63C>A (p.Ala21=)	AIRE	Single nucleotide variant (synonymous variant)	Polyglandular autoimmune syndrome, type 1	GLikely benign
Select item 495855	NM_000383.4(AIRE):c.63C>T (p.Ala21=)	AIRE	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 2501072	NM_000383.4(AIRE):c.65T>G (p.Val22Gly)	AIRE (V22G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2698613	NM_000383.4(AIRE):c.66G>T (p.Val22=)	AIRE	Single nucleotide variant (synonymous variant)	Polyglandular autoimmune syndrome, type 1	GLikely benign
Select item 1506771	NM_000383.4(AIRE):c.67G>A (p.Asp23Asn)	AIRE (D23N)	Single nucleotide variant (missense variant)	Polyglandular autoimmune syndrome, type 1	GUncertain significance
Select item 1377867	NM_000383.4(AIRE):c.68A>G (p.Asp23Gly)	AIRE (D23G)	Single nucleotide variant (missense variant)	Polyglandular autoimmune syndrome, type 1	GUncertain significance
Select item 2959525	NM_000383.4(AIRE):c.72C>T (p.Ser24=)	AIRE	Single nucleotide variant (synonymous variant)	Polyglandular autoimmune syndrome, type 1	GLikely benign
Select item 969973	NM_000383.4(AIRE):c.73G>C (p.Ala25Pro)	AIRE (A25P)	Single nucleotide variant (missense variant)	Polyglandular autoimmune syndrome, type 1	GUncertain significance
Select item 2610375	NM_000383.4(AIRE):c.74C>G (p.Ala25Gly)	AIRE (A25G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1115732	NM_000383.4(AIRE):c.78C>T (p.Phe26=)	AIRE	Single nucleotide variant (synonymous variant)	Polyglandular autoimmune syndrome, type 1	GLikely benign
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 68230	NM_000383.4(AIRE):c.86T>C (p.Leu29Pro)	AIRE (L29P)	Single nucleotide variant (missense variant)	Polyglandular autoimmune syndrome, type 1	GPathogenic
Select item 1631476	NM_000383.4(AIRE):c.87G>A (p.Leu29=)	AIRE	Single nucleotide variant (synonymous variant)	Polyglandular autoimmune syndrome, type 1	GLikely benign
Select item 989628	NM_000383.4(AIRE):c.90C>T (p.His30=)	AIRE	Single nucleotide variant (synonymous variant)	Polyglandular autoimmune syndrome, type 1	GLikely benign
Select item 3065212	NM_000383.4(AIRE):c.93_94insT (p.Leu32fs)	AIRE (L32fs)	Insertion (frameshift variant)	Polyglandular autoimmune syndrome, type 1	GLikely pathogenic
Select item 2828361	NM_000383.4(AIRE):c.93G>C (p.Ala31=)	AIRE	Single nucleotide variant (synonymous variant)	Polyglandular autoimmune syndrome, type 1	GLikely benign
Select item 2837774	NM_000383.4(AIRE):c.96G>C (p.Leu32=)	AIRE	Single nucleotide variant (synonymous variant)	Polyglandular autoimmune syndrome, type 1	GLikely benign
Select item 1113187	NM_000383.4(AIRE):c.96G>T (p.Leu32=)	AIRE	Single nucleotide variant (synonymous variant)	Polyglandular autoimmune syndrome, type 1	GLikely benign
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 2697573	NM_000383.4(AIRE):c.102C>T (p.Asp34=)	AIRE	Single nucleotide variant (synonymous variant)	Polyglandular autoimmune syndrome, type 1	GLikely benign
Select item 1996467	NM_000383.4(AIRE):c.102C>A (p.Asp34Glu)	AIRE (D34E)	Single nucleotide variant (missense variant)	Polyglandular autoimmune syndrome, type 1	GUncertain significance
Select item 1967884	NM_000383.4(AIRE):c.107del (p.Asp36fs)	AIRE (D36fs)	Deletion (frameshift variant)	Polyglandular autoimmune syndrome, type 1	GPathogenic
Select item 1943779	NM_000383.4(AIRE):c.108C>G (p.Asp36Glu)	AIRE (D36E)	Single nucleotide variant (missense variant)	Polyglandular autoimmune syndrome, type 1	GUncertain significance
Select item 966724	NM_000383.4(AIRE):c.108C>A (p.Asp36Glu)	AIRE (D36E)	Single nucleotide variant (missense variant)	Polyglandular autoimmune syndrome, type 1	GUncertain significance
Select item 1696127	NM_000383.4(AIRE):c.114_115insAG (p.Pro39fs)	AIRE (P39fs)	Insertion (frameshift variant)	Polyglandular autoimmune syndrome, type 1	GLikely pathogenic
Select item 1143843	NM_000383.4(AIRE):c.114C>A (p.Val38=)	AIRE	Single nucleotide variant (synonymous variant)	Polyglandular autoimmune syndrome, type 1	GLikely benign
Select item 803632	NM_000383.4(AIRE):c.117del (p.Glu40fs)	AIRE (E40fs)	Deletion (frameshift variant)	Polyglandular autoimmune syndrome, type 1	GPathogenic
Select item 3024087	NM_000383.4(AIRE):c.116C>T (p.Pro39Leu)	AIRE (P39L)	Single nucleotide variant (missense variant)	Polyglandular autoimmune syndrome, type 1	GUncertain significance
Select item 1122404	NM_000383.4(AIRE):c.117C>T (p.Pro39=)	AIRE	Single nucleotide variant (synonymous variant)	Polyglandular autoimmune syndrome, type 1	GLikely benign
Select item 1079003	NM_000383.4(AIRE):c.117C>G (p.Pro39=)	AIRE	Single nucleotide variant (synonymous variant)	Polyglandular autoimmune syndrome, type 1	GLikely benign
Select item 1445227	NM_000383.4(AIRE):c.118G>C (p.Glu40Gln)	AIRE (E40Q)	Single nucleotide variant (missense variant)	Polyglandular autoimmune syndrome, type 1	GUncertain significance
Select item 2954781	NM_000383.4(AIRE):c.121G>A (p.Asp41Asn)	AIRE (D41N)	Single nucleotide variant (missense variant)	Polyglandular autoimmune syndrome, type 1	GUncertain significance
Select item 2160441	NM_000383.4(AIRE):c.122A>G (p.Asp41Gly)	AIRE (D41G)	Single nucleotide variant (missense variant)	Polyglandular autoimmune syndrome, type 1	GUncertain significance
Select item 2824868	NM_000383.4(AIRE):c.123C>T (p.Asp41=)	AIRE	Single nucleotide variant (synonymous variant)	Polyglandular autoimmune syndrome, type 1	GLikely benign
Select item 2759161	NM_000383.4(AIRE):c.126G>A (p.Lys42=)	AIRE	Single nucleotide variant (synonymous variant)	Polyglandular autoimmune syndrome, type 1	GLikely benign
Select item 2580372	NM_000383.4(AIRE):c.131A>C (p.Gln44Pro)	AIRE (Q44P)	Single nucleotide variant (missense variant)	Polyglandular autoimmune syndrome, type 1	GLikely pathogenic
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 2001931	NM_000383.4(AIRE):c.132+2T>C	AIRE	Single nucleotide variant (splice donor variant)	Polyglandular autoimmune syndrome, type 1	GLikely pathogenic
Select item 2134956	NM_000383.4(AIRE):c.132+8C>T	AIRE	Single nucleotide variant (intron variant)	Polyglandular autoimmune syndrome, type 1	GLikely benign
Select item 1078413	NM_000383.4(AIRE):c.132+8C>G	AIRE	Single nucleotide variant (intron variant)	Polyglandular autoimmune syndrome, type 1	GLikely benign
Select item 1669858	NM_000383.4(AIRE):c.132+11C>T	AIRE	Single nucleotide variant (intron variant)	Polyglandular autoimmune syndrome, type 1	GLikely benign

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