C0085859[trait identifier] AND "Neuberg Centre For Genomic Medicine, N - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3024087	NM_000383.4(AIRE):c.116C>T (p.Pro39Leu)	AIRE (P39L)	Single nucleotide variant (missense variant)	Polyglandular autoimmune syndrome, type 1	GUncertain significance
Select item 2627471	NM_000383.4(AIRE):c.172G>A (p.Ala58Thr)	AIRE (A58T)	Single nucleotide variant (missense variant)	Polyglandular autoimmune syndrome, type 1	GUncertain significance
Select item 379319	NM_000383.4(AIRE):c.274C>T (p.Arg92Trp)	AIRE (R92W)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 556272	NM_000383.4(AIRE):c.652+2T>C	AIRE	Single nucleotide variant (splice donor variant)	Polyglandular autoimmune syndrome, type 1	GLikely pathogenic
Select item 666191	NM_000383.4(AIRE):c.947G>A (p.Arg316Gln)	AIRE (R316Q)	Single nucleotide variant (missense variant)	Polyglandular autoimmune syndrome, type 1	GUncertain significance
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 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 2671651	NM_000383.4(AIRE):c.1435G>T (p.Val479Leu)	AIRE (V479L)	Single nucleotide variant (missense variant)	Polyglandular autoimmune syndrome, type 1	GUncertain significance

ClinVar