ClinVar Miner

Variants with conflicting interpretations studied for Hyperinsulinism, Dominant

Coded as:
Minimum review status of the submission for Hyperinsulinism, Dominant: Y axis collection method of the submission for Hyperinsulinism, Dominant:
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
82 97 0 23 9 0 0 30

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
Hyperinsulinism, Dominant uncertain significance likely benign benign
uncertain significance 0 5 3
likely benign 2 0 22
benign 0 1 0

Condition to condition summary #

Total conditions: 7
Download table as spreadsheet
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 specified 0 1 0 22 6 0 0 28
not provided 0 0 0 6 2 0 0 8
Hyperinsulinism-hyperammonemia syndrome 0 0 0 3 1 0 0 4
Monogenic diabetes 0 1 0 2 0 0 0 2
Diabetes mellitus type 2 0 0 0 0 1 0 0 1
Maturity-onset diabetes of the young, type 1 0 2 0 0 1 0 0 1
Maturity-onset diabetes of the young, type 2 0 2 0 0 1 0 0 1

All variants with conflicting interpretations #

Total variants: 30
Download table as spreadsheet
HGVS dbSNP
NM_000162.3(GCK):c.1253+8C>T rs2908274
NM_000162.3(GCK):c.209-8G>A rs144798843
NM_000162.3(GCK):c.333C>T (p.Pro111=) rs61736250
NM_000162.3(GCK):c.339C>T (p.Asp113=) rs149412035
NM_000162.3(GCK):c.363+10G>A rs758495950
NM_000162.3(GCK):c.46-12C>T rs142829768
NM_000162.3(GCK):c.618G>A (p.Thr206=) rs142817246
NM_000162.3(GCK):c.645C>T (p.Tyr215=) rs144723656
NM_000457.4(HNF4A):c.*167T>A rs11574744
NM_000457.4(HNF4A):c.116-5C>T rs745975
NM_000457.4(HNF4A):c.1309C>T (p.Pro437Ser) rs150776703
NM_000457.4(HNF4A):c.150G>A (p.Ala50=) rs41282026
NM_000457.4(HNF4A):c.201C>T (p.Ala67=) rs736823
NM_000457.4(HNF4A):c.416C>T (p.Thr139Ile) rs1800961
NM_000457.4(HNF4A):c.459T>C (p.Asn153=) rs113308087
NM_000457.4(HNF4A):c.505G>A (p.Val169Ile) rs142204928
NM_000457.4(HNF4A):c.792G>A (p.Val264=) rs145280017
NM_003051.3(SLC16A1):c.-243dupC rs58047463
NM_003051.3(SLC16A1):c.1002G>A (p.Ala334=) rs114731222
NM_003051.3(SLC16A1):c.1470T>A (p.Asp490Glu) rs1049434
NM_003051.3(SLC16A1):c.362-22_362-11delTATTTATTTATT rs149491709
NM_005271.4(GLUD1):c.-44C>T rs886047379
NM_005271.4(GLUD1):c.104G>A (p.Gly35Glu) rs552066337
NM_005271.4(GLUD1):c.1060-10T>A rs17096421
NM_005271.4(GLUD1):c.1403-5dupT rs550609501
NM_005271.4(GLUD1):c.1470G>A (p.Thr490=) rs141844887
NM_005271.4(GLUD1):c.342T>C (p.His114=) rs142544510
NM_005271.4(GLUD1):c.376G>A (p.Asp126Asn) rs139579928
NM_005271.4(GLUD1):c.630A>G (p.Ala210=) rs368203417
NM_005271.4(GLUD1):c.942A>G (p.Leu314=) rs9421572

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