"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "AIRE"[gene - ClinVar

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 495855	NM_000383.4(AIRE):c.63C>T (p.Ala21=)	AIRE	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 68222	NM_000383.4(AIRE):c.254A>G (p.Tyr85Cys)	AIRE (Y85C)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2652741	NM_000383.4(AIRE):c.297C>T (p.Ser99=)	AIRE	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 644559	NM_000383.4(AIRE):c.347C>T (p.Pro116Leu)	AIRE (P116L)	Single nucleotide variant (missense variant)	not provided +1 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 732745	NM_000383.4(AIRE):c.354C>G (p.Val118=)	AIRE	Single nucleotide variant (synonymous variant)	Polyglandular autoimmune syndrome, type 1 +2 more	GLikely benign
Select item 715284	NM_000383.4(AIRE):c.372G>A (p.Pro124=)	AIRE	Single nucleotide variant (synonymous variant)	Polyglandular autoimmune syndrome, type 1 +1 more	GLikely benign
Select item 458619	NM_000383.4(AIRE):c.426G>A (p.Ala142=)	AIRE	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 371397	NM_000383.4(AIRE):c.517C>T (p.Gln173Ter)	AIRE (Q173*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 709485	NM_000383.4(AIRE):c.531C>T (p.Leu177=)	AIRE	Single nucleotide variant (synonymous variant)	Polyglandular autoimmune syndrome, type 1 +1 more	GLikely benign
Select item 128334	NM_000383.4(AIRE):c.595G>A (p.Val199Ile)	AIRE (V199I)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 736760	NM_000383.4(AIRE):c.615C>T (p.Ala205=)	AIRE	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2148727	NM_000383.4(AIRE):c.616G>A (p.Val206Met)	AIRE (V206M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1675872	NM_000383.4(AIRE):c.652+14C>G	AIRE	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 528315	NM_000383.4(AIRE):c.717C>T (p.Ser239=)	AIRE	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 3307	NM_000383.4(AIRE):c.769C>T (p.Arg257Ter)	AIRE (R257*)	Single nucleotide variant (nonsense)	AIRE-related condition +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 2913919	NM_000383.4(AIRE):c.865C>A (p.Pro289Thr)	AIRE (P289T)	Single nucleotide variant (missense variant)	Polyglandular autoimmune syndrome, type 1 +1 more	GUncertain significance
Select item 718871	NM_000383.4(AIRE):c.912C>T (p.Asp304=)	AIRE	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3027055	NM_000383.4(AIRE):c.962C>A (p.Ala321Asp)	AIRE (A321D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3309	NM_000383.4(AIRE):c.967_979del (p.Leu323fs)	AIRE (L323fs)	Deletion (frameshift variant)	AIRE-related condition +2 more	GPathogenic/Likely pathogenic
Select item 528312	NM_000383.4(AIRE):c.1065C>T (p.Pro355=)	AIRE	Single nucleotide variant (synonymous variant)	Polyglandular autoimmune syndrome, type 1 +1 more	GBenign/Likely benign
Select item 35660	NM_000383.4(AIRE):c.1322C>T (p.Thr441Met)	AIRE (T441M)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 458614	NM_000383.4(AIRE):c.1344C>T (p.His448=)	AIRE	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 720631	NM_000383.4(AIRE):c.1383C>T (p.Ala461=)	AIRE	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 743717	NM_000383.4(AIRE):c.1398C>T (p.Pro466=)	AIRE	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 35661	NM_000383.4(AIRE):c.1404G>A (p.Thr468=)	AIRE	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 128332	NM_000383.4(AIRE):c.1411C>T (p.Arg471Cys)	AIRE (R471C)	Single nucleotide variant (missense variant)	not specified +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 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 446817	NM_000383.4(AIRE):c.1566+8C>T	AIRE	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 35662	NM_000383.4(AIRE):c.1567-5C>T	AIRE	Single nucleotide variant (intron variant)	AIRE-related condition +3 more	GConflicting classifications of pathogenicity

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Items: 34