"Counsyl"[submitter] AND "LOC130066813"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 371075	NM_000383.4(AIRE):c.1566+2T>A	LOC130066813, AIRE	Single nucleotide variant (splice donor variant)	Polyglandular autoimmune syndrome, type 1	GPathogenic/Likely pathogenic