Related gene-specific medical variations for Gene (Select 326) - ClinVar

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Items: 65

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3036805	NM_000383.4(AIRE):c.1521C>G (p.His507Gln)	AIRE, LOC130066813 (H507Q)	Single nucleotide variant (missense variant)	AIRE-related disorder	GUncertain significance
Select item 2914233	NM_000383.4(AIRE):c.1558C>T (p.Leu520=)	AIRE, LOC130066813	Single nucleotide variant (synonymous variant)	Polyglandular autoimmune syndrome, type 1	GLikely benign
Select item 2886750	NM_000383.4(AIRE):c.1504-18C>T	AIRE, LOC130066813	Single nucleotide variant (intron variant)	Polyglandular autoimmune syndrome, type 1	GLikely benign
Select item 2835329	NM_000383.4(AIRE):c.1504-14_1504-13del	AIRE, LOC130066813	Deletion (intron variant)	Polyglandular autoimmune syndrome, type 1	GLikely benign
Select item 2827225	NM_000383.4(AIRE):c.1554C>G (p.Ser518=)	AIRE, LOC130066813	Single nucleotide variant (synonymous variant)	Polyglandular autoimmune syndrome, type 1	GLikely benign
Select item 2804679	NM_000383.4(AIRE):c.1517G>T (p.Ser506Ile)	AIRE, LOC130066813 (S506I)	Single nucleotide variant (missense variant)	Polyglandular autoimmune syndrome, type 1	GUncertain significance
Select item 2735518	NM_000383.4(AIRE):c.1504-13T>A	AIRE, LOC130066813	Single nucleotide variant (intron variant)	Polyglandular autoimmune syndrome, type 1	GLikely benign
Select item 2672176	NM_000383.4(AIRE):c.1566+4A>G	AIRE, LOC130066813	Single nucleotide variant (intron variant)	Polyglandular autoimmune syndrome, type 1	GUncertain significance
Select item 2580375	NM_000383.4(AIRE):c.190_226del (p.Ser64fs)	AIRE (S64fs)	Deletion (frameshift variant)	Polyglandular autoimmune syndrome, type 1	GPathogenic
Select item 2580374	NM_000383.4(AIRE):c.1364G>A (p.Trp455Ter)	AIRE (W455*)	Single nucleotide variant (nonsense)	Polyglandular autoimmune syndrome, type 1	GPathogenic
Select item 2580373	NM_000383.4(AIRE):c.242T>C (p.Leu81Pro)	AIRE (L81P)	Single nucleotide variant (missense variant)	Polyglandular autoimmune syndrome, type 1	GLikely pathogenic
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 2580371	NM_000383.4(AIRE):c.133-126_539-180del	AIRE	Deletion (splice acceptor variant +1 more)	Polyglandular autoimmune syndrome, type 1	GPathogenic
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 2580369	NM_000383.4(AIRE):c.1235del (p.Ser412fs)	AIRE (S412fs)	Deletion (frameshift variant)	Polyglandular autoimmune syndrome, type 1	GPathogenic
Select item 2503450	NM_000383.4(AIRE):c.1311C>A (p.Cys437Ter)	AIRE (C437*)	Single nucleotide variant (nonsense)	Polyglandular autoimmune syndrome, type 1	GLikely pathogenic
Select item 2503442	NM_000383.4(AIRE):c.1398dup (p.Gly467fs)	AIRE (G467fs)	Duplication (frameshift variant)	Polyglandular autoimmune syndrome, type 1	GLikely pathogenic
Select item 2438948	NM_000383.4(AIRE):c.1537A>G (p.Arg513Gly)	AIRE, LOC130066813 (R513G)	Single nucleotide variant (missense variant)	Polyglandular autoimmune syndrome, type 1	GUncertain significance
Select item 2421759	NM_000383.4(AIRE):c.1566+1G>C	AIRE, LOC130066813	Single nucleotide variant (splice donor variant)	Polyglandular autoimmune syndrome, type 1	GPathogenic
Select item 2191342	NM_000383.4(AIRE):c.1564G>A (p.Glu522Lys)	AIRE, LOC130066813 (E522K)	Single nucleotide variant (missense variant)	Polyglandular autoimmune syndrome, type 1	GUncertain significance
Select item 2168402	NM_000383.4(AIRE):c.1553C>T (p.Ser518Phe)	AIRE, LOC130066813 (S518F)	Single nucleotide variant (missense variant)	Polyglandular autoimmune syndrome, type 1	GUncertain significance
Select item 2163148	NM_000383.4(AIRE):c.1528G>A (p.Ala510Thr)	AIRE, LOC130066813 (A510T)	Single nucleotide variant (missense variant)	Polyglandular autoimmune syndrome, type 1	GUncertain significance
Select item 2146659	NM_000383.4(AIRE):c.1504-17T>C	AIRE, LOC130066813	Single nucleotide variant (intron variant)	Polyglandular autoimmune syndrome, type 1	GLikely benign
Select item 2146656	NM_000383.4(AIRE):c.1528G>C (p.Ala510Pro)	AIRE, LOC130066813 (A510P)	Single nucleotide variant (missense variant)	Polyglandular autoimmune syndrome, type 1	GUncertain significance
Select item 2108285	NM_000383.4(AIRE):c.1555C>T (p.Leu519Phe)	AIRE, LOC130066813 (L519F)	Single nucleotide variant (missense variant)	Polyglandular autoimmune syndrome, type 1	GUncertain significance
Select item 2101163	NM_000383.4(AIRE):c.1515C>A (p.Ala505=)	LOC130066813, AIRE	Single nucleotide variant (synonymous variant)	Polyglandular autoimmune syndrome, type 1	GLikely benign
Select item 2013439	NM_000383.4(AIRE):c.1522G>T (p.Glu508Ter)	AIRE, LOC130066813 (E508*)	Single nucleotide variant (nonsense)	Polyglandular autoimmune syndrome, type 1	GPathogenic
Select item 1693557	NM_000383.3:c.995+(3_5)delGAGinsTAT	AIRE	Indel	Polyglandular autoimmune syndrome, type 1	GPathogenic
Select item 1633278	NM_000383.4(AIRE):c.1545C>T (p.Asp515=)	AIRE, LOC130066813	Single nucleotide variant (synonymous variant)	Polyglandular autoimmune syndrome, type 1	GLikely benign
Select item 1625809	NM_000383.4(AIRE):c.1512T>C (p.Thr504=)	LOC130066813, AIRE	Single nucleotide variant (synonymous variant)	Polyglandular autoimmune syndrome, type 1	GLikely benign
Select item 1616073	NM_000383.4(AIRE):c.1567-17_1567-15dup	AIRE, LOC130066814	Duplication (intron variant)	Polyglandular autoimmune syndrome, type 1	GLikely benign
Select item 1565621	NM_000383.4(AIRE):c.1554C>T (p.Ser518=)	AIRE, LOC130066813	Single nucleotide variant (synonymous variant)	Polyglandular autoimmune syndrome, type 1	GLikely benign
Select item 1455197	NM_000383.4(AIRE):c.1540del (p.Asp514fs)	AIRE, LOC130066813 (D514fs)	Deletion (frameshift variant)	Polyglandular autoimmune syndrome, type 1	GPathogenic
Select item 1372946	NM_000383.4(AIRE):c.1520A>T (p.His507Leu)	AIRE, LOC130066813 (H507L)	Single nucleotide variant (missense variant)	Polyglandular autoimmune syndrome, type 1	GUncertain significance
Select item 1323871	NM_000383.4(AIRE):c.1406del (p.Gly469fs)	AIRE (G469fs)	Deletion (frameshift variant)	Polyglandular autoimmune syndrome, type 1	GLikely pathogenic
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 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 1153688	NM_000383.4(AIRE):c.1504-4C>T	AIRE, LOC130066813	Single nucleotide variant (intron variant)	Polyglandular autoimmune syndrome, type 1	GLikely benign
Select item 1103441	NM_000383.4(AIRE):c.1521C>T (p.His507=)	AIRE, LOC130066813	Single nucleotide variant (synonymous variant)	Polyglandular autoimmune syndrome, type 1	GLikely benign
Select item 1093048	NM_000383.4(AIRE):c.1527C>T (p.Pro509=)	AIRE, LOC130066813	Single nucleotide variant (synonymous variant)	Polyglandular autoimmune syndrome, type 1	GLikely benign
Select item 1039065	NM_000383.4(AIRE):c.1563C>A (p.Ser521Arg)	AIRE, LOC130066813 (S521R)	Single nucleotide variant (missense variant)	Polyglandular autoimmune syndrome, type 1	GUncertain significance
Select item 1007113	NM_000383.4(AIRE):c.1525C>T (p.Pro509Ser)	AIRE, LOC130066813 (P509S)	Single nucleotide variant (missense variant)	Polyglandular autoimmune syndrome, type 1	GUncertain significance
Select item 990754	NM_000383.4(AIRE):c.1400+4A>C	AIRE	Single nucleotide variant (intron variant)	Polyglandular autoimmune syndrome, type 1	GUncertain significance
Select item 990751	NM_000383.4(AIRE):c.773C>G (p.Ala258Gly)	AIRE (A258G)	Single nucleotide variant (missense variant)	Polyglandular autoimmune syndrome, type 1	GUncertain significance
Select item 990750	NM_000383.4(AIRE):c.640G>A (p.Val214Met)	AIRE (V214M)	Single nucleotide variant (missense variant)	Polyglandular autoimmune syndrome, type 1	GUncertain significance
Select item 989630	NM_000383.4(AIRE):c.328C>T (p.Arg110Trp)	AIRE (R110W)	Single nucleotide variant (missense variant)	Polyglandular autoimmune syndrome, type 1	GUncertain significance
Select item 989629	NM_000383.4(AIRE):c.266G>A (p.Arg89His)	AIRE (R89H)	Single nucleotide variant (missense variant)	Polyglandular autoimmune syndrome, type 1	GUncertain significance
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 973619	NM_000383.4(AIRE):c.1549G>T (p.Glu517Ter)	AIRE, LOC130066813 (E517*)	Single nucleotide variant (nonsense)	Polyglandular autoimmune syndrome, type 1	GPathogenic
Select item 953592	NM_000383.4(AIRE):c.1516A>G (p.Ser506Gly)	AIRE, LOC130066813 (S506G)	Single nucleotide variant (missense variant)	Polyglandular autoimmune syndrome, type 1	GUncertain significance
Select item 788316	NM_000383.4(AIRE):c.1507G>A (p.Asp503Asn)	AIRE, LOC130066813 (D503N)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 656252	NM_000383.4(AIRE):c.1505A>T (p.Asp502Val)	AIRE, LOC130066813 (D502V)	Single nucleotide variant (missense variant)	Polyglandular autoimmune syndrome, type 1	GUncertain significance
Select item 654020	NM_000383.4(AIRE):c.1563C>T (p.Ser521=)	AIRE, LOC130066813	Single nucleotide variant (synonymous variant)	Polyglandular autoimmune syndrome, type 1	GLikely benign
Select item 554353	NM_000383.4(AIRE):c.1567-18C>T	AIRE, LOC130066814	Single nucleotide variant (intron variant)	Polyglandular autoimmune syndrome, type 1	GLikely benign
Select item 371075	NM_000383.4(AIRE):c.1566+2T>A	AIRE, LOC130066813	Single nucleotide variant (splice donor variant)	Polyglandular autoimmune syndrome, type 1	GPathogenic/Likely pathogenic
Select item 370846	NM_000383.4(AIRE):c.1566+2dup	AIRE, LOC130066813	Duplication (splice donor variant)	Polyglandular autoimmune syndrome, type 1	GLikely pathogenic
Select item 68231	NM_000383.4(AIRE):c.977C>A (p.Pro326Gln)	AIRE (P326Q)	Single nucleotide variant (missense variant)	not provided	Gnot provided
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 68221	NM_000383.4(AIRE):c.238G>T (p.Val80Leu)	AIRE (V80L)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 68220	NM_000383.4(AIRE):c.232T>A (p.Trp78Arg)	AIRE (W78R)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 68219	NM_000383.4(AIRE):c.230T>C (p.Phe77Ser)	AIRE (F77S)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 56223	NM_000383.4(AIRE):c.932G>A (p.Cys311Tyr)	AIRE (C311Y)	Single nucleotide variant (missense variant)	Polyglandular autoimmune syndrome, type 1	GLikely pathogenic
Select item 3312	NM_000383.4(AIRE):c.1513del (p.Ala505fs)	AIRE, LOC130066813 (A505fs)	Deletion (frameshift variant)	Polyglandular autoimmune syndrome, type 1	GPathogenic

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Links from Gene

Items: 65