"Genome-Nilou Lab"[submitter] AND "AIRE"[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 128338	NM_000383.4(AIRE):c.588C>T (p.Ser196=)	AIRE	Single nucleotide variant (synonymous variant)	not specified +2 more	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 128340	NM_000383.4(AIRE):c.834C>G (p.Ser278Arg)	AIRE (S278R)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 1184788	NM_000383.4(AIRE):c.995+109A>G	AIRE	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
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 1184789	NM_000383.4(AIRE):c.1096-288G>A	AIRE	Single nucleotide variant (intron variant)	not provided +1 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 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 1184790	NM_000383.4(AIRE):c.1401-28G>A	AIRE	Single nucleotide variant (intron variant)	Polyglandular autoimmune syndrome, type 1	GLikely 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