"Fulgent Genetics, Fulgent Genetics"[submitter] AND "AIRE"[gene] - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 68229	NM_000383.4(AIRE):c.83T>C (p.Leu28Pro)	AIRE (L28P)	Single nucleotide variant (missense variant)	Polyglandular autoimmune syndrome, type 1 +1 more	GPathogenic/Likely pathogenic
Select item 68222	NM_000383.4(AIRE):c.254A>G (p.Tyr85Cys)	AIRE (Y85C)	Single nucleotide variant (missense variant)	Polyglandular autoimmune syndrome, type 1 +1 more	GPathogenic/Likely pathogenic
Select item 379319	NM_000383.4(AIRE):c.274C>T (p.Arg92Trp)	AIRE (R92W)	Single nucleotide variant (missense variant)	Polyglandular autoimmune syndrome, type 1 +1 more	GPathogenic/Likely pathogenic
Select item 35663	NM_000383.4(AIRE):c.342G>T (p.Lys114Asn)	AIRE (K114N)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 762633	NM_000383.4(AIRE):c.351C>T (p.Ala117=)	AIRE	Single nucleotide variant (synonymous variant)	Polyglandular autoimmune syndrome, type 1	GLikely benign
Select item 35665	NM_000383.4(AIRE):c.463G>A (p.Gly155Ser)	AIRE (G155S)	Single nucleotide variant (missense variant)	Polyglandular autoimmune syndrome, type 1	GPathogenic/Likely pathogenic
Select item 1413107	NM_000383.4(AIRE):c.488C>A (p.Pro163His)	AIRE (P163H)	Single nucleotide variant (missense variant)	Polyglandular autoimmune syndrome, type 1	GUncertain significance
Select item 567597	NM_000383.4(AIRE):c.538G>A (p.Gly180Arg)	AIRE (G180R)	Single nucleotide variant (missense variant)	Polyglandular autoimmune syndrome, type 1	GUncertain significance
Select item 1384246	NM_000383.4(AIRE):c.608G>A (p.Arg203Gln)	AIRE (R203Q)	Single nucleotide variant (missense variant)	Polyglandular autoimmune syndrome, type 1	GUncertain significance
Select item 990750	NM_000383.4(AIRE):c.640G>A (p.Val214Met)	AIRE (V214M)	Single nucleotide variant (missense variant)	Polyglandular autoimmune syndrome, type 1	GUncertain significance
Select item 370839	NM_000383.4(AIRE):c.652+1G>T	AIRE	Single nucleotide variant (splice donor variant)	Polyglandular autoimmune syndrome, type 1 +1 more	GConflicting classifications of pathogenicity
Select item 967483	NM_000383.4(AIRE):c.748A>T (p.Ser250Cys)	AIRE (S250C)	Single nucleotide variant (missense variant)	Polyglandular autoimmune syndrome, type 1	GUncertain significance
Select item 35668	NM_000383.4(AIRE):c.755C>T (p.Pro252Leu)	AIRE (P252L)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 3307	NM_000383.4(AIRE):c.769C>T (p.Arg257Ter)	AIRE (R257*)	Single nucleotide variant (nonsense)	Polyglandular autoimmune syndrome, type 1 +1 more	GPathogenic
Select item 68232	NM_000383.4(AIRE):c.977C>T (p.Pro326Leu)	AIRE (P326L)	Single nucleotide variant (missense variant)	Polyglandular autoimmune syndrome, type 1	GPathogenic/Likely pathogenic
Select item 964804	NM_000383.4(AIRE):c.982C>T (p.Arg328Trp)	AIRE (R328W)	Single nucleotide variant (missense variant)	Polyglandular autoimmune syndrome, type 1	GUncertain significance
Select item 285876	NM_000383.4(AIRE):c.1066C>T (p.Arg356Trp)	AIRE (R356W)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 646517	NM_000383.4(AIRE):c.1095+2T>C	AIRE	Single nucleotide variant (splice donor variant)	Polyglandular autoimmune syndrome, type 1	GPathogenic/Likely pathogenic
Select item 968931	NM_000383.4(AIRE):c.1115C>T (p.Ser372Leu)	AIRE (S372L)	Single nucleotide variant (missense variant)	Polyglandular autoimmune syndrome, type 1 +1 more	GUncertain significance
Select item 648148	NM_000383.4(AIRE):c.1169C>T (p.Thr390Met)	AIRE (T390M)	Single nucleotide variant (missense variant)	Polyglandular autoimmune syndrome, type 1 +1 more	GConflicting classifications of pathogenicity
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 265456	NM_000383.4(AIRE):c.1265del (p.Pro422fs)	AIRE (P422fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 585381	NM_000383.4(AIRE):c.1295_1296insA (p.Arg433fs)	AIRE (R433fs)	Insertion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 387341	NM_000383.4(AIRE):c.1370G>A (p.Cys457Tyr)	AIRE (C457Y)	Single nucleotide variant (missense variant)	Polyglandular autoimmune syndrome, type 1 +1 more	GUncertain significance
Select item 128332	NM_000383.4(AIRE):c.1411C>T (p.Arg471Cys)	AIRE (R471C)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 550499	NM_000383.4(AIRE):c.1450G>A (p.Val484Met)	AIRE (V484M)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 377459	NM_000383.4(AIRE):c.1477G>A (p.Ala493Thr)	AIRE (A493T)	Single nucleotide variant (missense variant)	Polyglandular autoimmune syndrome, type 1 +2 more	GUncertain significance
Select item 68218	NM_000383.4(AIRE):c.1616C>T (p.Pro539Leu)	AIRE (P539L)	Single nucleotide variant (missense variant)	Polyglandular autoimmune syndrome, type 1 +1 more	GPathogenic/Likely pathogenic

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Items: 29