ClinVar Miner

Variants with conflicting interpretations studied for Polyglandular autoimmune syndrome, type 1

Coded as:
Minimum review status of the submission for Polyglandular autoimmune syndrome, type 1: Y axis collection method of the submission for Polyglandular autoimmune syndrome, type 1:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission Variants with at least 2 submissions and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any kind of conflict
122 22 1 19 3 0 3 25

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

All conditions
Polyglandular autoimmune syndrome, type 1 pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 6 0 0 0
likely pathogenic 8 1 2 0 0
uncertain significance 1 1 0 0 1
likely benign 0 0 0 0 3
benign 0 0 3 10 0

Condition to condition summary #

Total conditions: 4
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Condition Variants with only 1 submission Variants with at least 2 submissions and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any kind of conflict
not provided 0 14 0 11 2 0 2 15
Polyglandular autoimmune syndrome, type 1 147 11 1 8 1 0 1 11
not specified 0 4 0 6 3 0 0 8
Autoimmune polyglandular syndrome type 1, with reversible metaphyseal dysplasia 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 25
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HGVS dbSNP
NM_000383.4(AIRE):c.1163_1164insA (p.Met388fs) rs386833672
NM_000383.4(AIRE):c.1249dup (p.Leu417fs) rs786204567
NM_000383.4(AIRE):c.1296G>A (p.Ala432=) rs144359012
NM_000383.4(AIRE):c.1404G>A (p.Thr468=) rs7281600
NM_000383.4(AIRE):c.1411C>T (p.Arg471Cys) rs74203920
NM_000383.4(AIRE):c.1476C>T (p.Pro492=) rs72650679
NM_000383.4(AIRE):c.1566+8C>T rs72650680
NM_000383.4(AIRE):c.1567-5C>T rs192215705
NM_000383.4(AIRE):c.1616C>T (p.Pro539Leu) rs179363889
NM_000383.4(AIRE):c.1638A>T (p.Ter546Cys) rs386833673
NM_000383.4(AIRE):c.21_43dup (p.Arg15delinsHisAlaGlyPheTer)
NM_000383.4(AIRE):c.232T>C (p.Trp78Arg) rs179363880
NM_000383.4(AIRE):c.274C>T (p.Arg92Trp) rs140630532
NM_000383.4(AIRE):c.342G>T (p.Lys114Asn) rs142788946
NM_000383.4(AIRE):c.371C>T (p.Pro124Leu) rs193922417
NM_000383.4(AIRE):c.463+2T>C rs786204478
NM_000383.4(AIRE):c.497C>T (p.Pro166Leu) rs11910214
NM_000383.4(AIRE):c.517C>T (p.Gln173Ter) rs1057517241
NM_000383.4(AIRE):c.595G>A (p.Val199Ile) rs74162061
NM_000383.4(AIRE):c.63C>T (p.Ala21=) rs371796437
NM_000383.4(AIRE):c.652+14C>T rs41277546
NM_000383.4(AIRE):c.755C>T (p.Pro252Leu) rs34397615
NM_000383.4(AIRE):c.83T>C (p.Leu28Pro) rs179363878
NM_000383.4(AIRE):c.967_979del (p.Leu323fs) rs386833675
NM_000383.4(AIRE):c.99T>C (p.Ala33=) rs3746964

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