"Baylor Genetics"[submitter] AND "AIRE"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1032326	NM_000383.4(AIRE):c.652+15G>A	AIRE	Single nucleotide variant (intron variant)	Polyglandular autoimmune syndrome, type 1	GConflicting classifications of pathogenicity
Select item 1028224	NM_000383.4(AIRE):c.1235C>T (p.Ser412Leu)	AIRE (S412L)	Single nucleotide variant (missense variant)	Polyglandular autoimmune syndrome, type 1	GUncertain significance
Select item 625618	GRCh37/hg19 21q22.2-22.3(chr21:41537095-46914745)	ABCG1, ADARB1 +70 more	Copy number loss	not provided	GPathogenic

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