"Revvity Omics, Revvity"[submitter] AND "AIRE"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 2440711	NM_000383.4(AIRE):c.199del (p.Leu66_Leu67insTer)	AIRE	Deletion (nonsense)	Polyglandular autoimmune syndrome, type 1	GConflicting classifications of pathogenicity
Select item 1460122	NM_000383.4(AIRE):c.510_522del (p.Glu171fs)	AIRE (E171fs)	Deletion (frameshift variant)	Polyglandular autoimmune syndrome, type 1	GPathogenic/Likely pathogenic
Select item 370839	NM_000383.4(AIRE):c.652+1G>T	AIRE	Single nucleotide variant (splice donor variant)	Polyglandular autoimmune syndrome, type 1	GLikely pathogenic
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 3309	NM_000383.4(AIRE):c.967_979del (p.Leu323fs)	AIRE (L323fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 664176	NM_000383.4(AIRE):c.1244A>G (p.His415Arg)	AIRE (H415R)	Single nucleotide variant (missense variant)	not specified +1 more	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 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