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

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Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2230237	NM_000383.4(AIRE):c.7A>C (p.Thr3Pro)	AIRE (T3P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2251109	NM_000383.4(AIRE):c.11A>C (p.Asp4Ala)	AIRE (D4A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2610375	NM_000383.4(AIRE):c.74C>G (p.Ala25Gly)	AIRE (A25G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 528309	NM_000383.4(AIRE):c.137C>T (p.Thr46Met)	AIRE (T46M)	Single nucleotide variant (missense variant)	Polyglandular autoimmune syndrome, type 1 +1 more	GUncertain significance
Select item 655886	NM_000383.4(AIRE):c.166C>T (p.Pro56Ser)	AIRE (P56S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1058583	NM_000383.4(AIRE):c.169C>G (p.Gln57Glu)	AIRE (Q57E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 458617	NM_000383.4(AIRE):c.226G>A (p.Asp76Asn)	AIRE (D76N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2902911	NM_000383.4(AIRE):c.266G>T (p.Arg89Leu)	AIRE (R89L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 644559	NM_000383.4(AIRE):c.347C>T (p.Pro116Leu)	AIRE (P116L)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 645210	NM_000383.4(AIRE):c.353T>A (p.Val118Asp)	AIRE (V118D)	Single nucleotide variant (missense variant)	Polyglandular autoimmune syndrome, type 1 +1 more	GUncertain significance
Select item 2544482	NM_000383.4(AIRE):c.437T>C (p.Leu146Pro)	AIRE (L146P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 989631	NM_000383.4(AIRE):c.454G>A (p.Ala152Thr)	AIRE (A152T)	Single nucleotide variant (missense variant)	Polyglandular autoimmune syndrome, type 1 +1 more	GUncertain significance
Select item 989632	NM_000383.4(AIRE):c.457A>G (p.Ser153Gly)	AIRE (S153G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2145381	NM_000383.4(AIRE):c.508G>A (p.Ala170Thr)	AIRE (A170T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 578977	NM_000383.4(AIRE):c.590G>C (p.Gly197Ala)	AIRE (G197A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2267502	NM_000383.4(AIRE):c.619G>A (p.Glu207Lys)	AIRE (E207K)	Single nucleotide variant (missense variant)	Polyglandular autoimmune syndrome, type 1 +1 more	GUncertain significance
Select item 3103160	NM_000383.4(AIRE):c.748A>G (p.Ser250Gly)	AIRE (S250G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2468570	NM_000383.4(AIRE):c.770G>C (p.Arg257Pro)	AIRE (R257P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1337433	NM_000383.4(AIRE):c.793G>A (p.Ala265Thr)	AIRE (A265T)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 971598	NM_000383.4(AIRE):c.825G>C (p.Gln275His)	AIRE (Q275H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 458620	NM_000383.4(AIRE):c.925A>G (p.Ile309Val)	AIRE (I309V)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 732196	NM_000383.4(AIRE):c.978G>A (p.Pro326=)	AIRE	Single nucleotide variant (synonymous variant)	Polyglandular autoimmune syndrome, type 1 +1 more	GLikely benign
Select item 2857332	NM_000383.4(AIRE):c.1001C>A (p.Thr334Asn)	AIRE (T334N)	Single nucleotide variant (missense variant)	Polyglandular autoimmune syndrome, type 1 +1 more	GUncertain significance
Select item 2518378	NM_000383.4(AIRE):c.1007G>A (p.Arg336Lys)	AIRE (R336K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1039748	NM_000383.4(AIRE):c.1031C>T (p.Thr344Ile)	AIRE (T344I)	Single nucleotide variant (missense variant)	Polyglandular autoimmune syndrome, type 1 +2 more	GUncertain significance
Select item 649942	NM_000383.4(AIRE):c.1067G>A (p.Arg356Gln)	AIRE (R356Q)	Single nucleotide variant (missense variant)	Polyglandular autoimmune syndrome, type 1 +1 more	GConflicting classifications of pathogenicity
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 2144572	NM_000383.4(AIRE):c.1159G>A (p.Gly387Ser)	AIRE (G387S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 566533	NM_000383.4(AIRE):c.1168A>G (p.Thr390Ala)	AIRE (T390A)	Single nucleotide variant (missense variant)	Polyglandular autoimmune syndrome, type 1 +1 more	GConflicting classifications of pathogenicity
Select item 2216186	NM_000383.4(AIRE):c.1193C>G (p.Pro398Arg)	AIRE (P398R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2194945	NM_000383.4(AIRE):c.1196C>A (p.Ala399Asp)	AIRE (A399D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2613513	NM_000383.4(AIRE):c.1204T>G (p.Ser402Ala)	AIRE (S402A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 971203	NM_000383.4(AIRE):c.1367G>A (p.Arg456His)	AIRE (R456H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2457204	NM_000383.4(AIRE):c.1390T>C (p.Ser464Pro)	AIRE (S464P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 969976	NM_000383.4(AIRE):c.1399G>C (p.Gly467Arg)	AIRE (G467R)	Single nucleotide variant (missense variant)	Polyglandular autoimmune syndrome, type 1 +1 more	GUncertain significance
Select item 2617659	NM_000383.4(AIRE):c.1403C>G (p.Thr468Arg)	AIRE (T468R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2283127	NM_000383.4(AIRE):c.1465G>C (p.Ala489Pro)	AIRE (A489P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2613126	NM_000383.4(AIRE):c.1589A>T (p.Gln530Leu)	AIRE (Q530L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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Items: 39