ClinVar Miner

Variants with conflicting interpretations studied for Permanent neonatal diabetes mellitus

Coded as:
Minimum review status of the submission for Permanent neonatal diabetes mellitus: Y axis collection method of the submission for Permanent neonatal diabetes mellitus:
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
49 75 30 35 17 1 1 81

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
Permanent neonatal diabetes mellitus pathogenic likely pathogenic uncertain significance likely benign benign drug response risk factor
pathogenic 30 2 1 0 0 0 0
uncertain significance 0 0 0 1 0 0 0
likely benign 0 0 16 0 20 0 0
benign 0 0 0 13 0 1 1

Condition to condition summary #

Total conditions: 24
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 8 2 30 7 0 1 40
Permanent neonatal diabetes mellitus 180 6 19 0 0 0 0 19
not provided 0 8 5 9 4 0 0 18
Diabetes mellitus, permanent neonatal, with neurologic features 0 0 8 0 0 0 0 8
Hyperinsulinism, Dominant/Recessive 0 78 0 2 3 0 0 5
Maturity onset diabetes mellitus in young 0 31 0 2 3 0 0 5
Persistent hyperinsulinemic hypoglycemia of infancy 0 5 0 1 4 0 0 5
Transient Neonatal Diabetes, Dominant 0 78 0 2 3 0 0 5
Maturity-onset diabetes of the young, type 2 0 2 2 0 1 0 0 3
Neonatal insulin-dependent diabetes mellitus 0 0 3 0 0 0 0 3
Diabetes mellitus type 2 0 1 0 0 1 1 0 2
Transient neonatal diabetes mellitus 3 0 0 2 0 0 0 0 2
Diabetes mellitus, insulin-dependent, 2 0 0 1 0 0 0 0 1
Exercise stress response, impaired, association with 0 0 0 0 0 1 0 1
Familial hyperinsulinism 0 0 0 1 0 0 0 1
Maturity-onset diabetes of the young, type 13 0 0 1 0 0 0 0 1
Maturity-onset diabetes of the young, type 4; Pancreatic agenesis, congenital 0 1 1 0 0 0 0 1
Neonatal diabetes mellitus 0 5 0 0 1 0 0 1
glibenclamide response - Efficacy 0 0 0 0 0 1 0 1
gliclazide response - Efficacy 0 0 0 0 0 1 0 1
glimepiride response - Efficacy 0 0 0 0 0 1 0 1
glipizide response - Efficacy 0 0 0 0 0 1 0 1
gliquidone response - Efficacy 0 0 0 0 0 1 0 1
sulfonamides, urea derivatives response - Efficacy 0 0 0 0 0 1 0 1

All variants with conflicting interpretations #

Total variants: 81
Download table as spreadsheet
HGVS dbSNP
NM_000162.3(GCK):c.1019+2T>G rs193929376
NM_000162.3(GCK):c.1190G>T (p.Arg397Leu) rs193929375
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.629T>A (p.Met210Lys) rs80356654
NM_000162.3(GCK):c.645C>T (p.Tyr215=) rs144723656
NM_000162.3(GCK):c.683C>T (p.Thr228Met) rs80356655
NM_000207.2(INS):c.-152C>G rs748749585
NM_000207.2(INS):c.127T>G (p.Cys43Gly) rs80356666
NM_000207.2(INS):c.143T>G (p.Phe48Cys) rs80356668
NM_000207.2(INS):c.265C>T (p.Arg89Cys) rs80356669
NM_000207.2(INS):c.287G>A (p.Cys96Tyr) rs80356671
NM_000207.2(INS):c.71C>A (p.Ala24Asp) rs80356663
NM_000207.2(INS):c.94G>A (p.Gly32Ser) rs80356664
NM_000209.3(PDX1):c.188del (p.Pro63Argfs) rs193929377
NM_000352.4(ABCC8):c.-19A>G rs193922394
NM_000352.4(ABCC8):c.-72G>A rs541244107
NM_000352.4(ABCC8):c.-8G>T rs200091822
NM_000352.4(ABCC8):c.1144G>A (p.Glu382Lys) rs80356651
NM_000352.4(ABCC8):c.1158C>T (p.Asn386=) rs60824529
NM_000352.4(ABCC8):c.1332+4del rs587783164
NM_000352.4(ABCC8):c.1384A>G (p.Ile462Val) rs117874766
NM_000352.4(ABCC8):c.1572G>A (p.Thr524Thr=) rs61748766
NM_000352.4(ABCC8):c.1686C>T (p.His562=) rs1799857
NM_000352.4(ABCC8):c.1707C>T (p.Ala569=) rs147623093
NM_000352.4(ABCC8):c.1920G>A (p.Ala640=) rs146156937
NM_000352.4(ABCC8):c.1926C>G (p.Pro642=) rs75376282
NM_000352.4(ABCC8):c.1947G>A (p.Lys649=) rs1799858
NM_000352.4(ABCC8):c.2041-12C>T rs201419039
NM_000352.4(ABCC8):c.207T>C (p.Pro69=) rs1048099
NM_000352.4(ABCC8):c.2117-3C>T rs1799854
NM_000352.4(ABCC8):c.215A>G (p.Asn72Ser) rs80356634
NM_000352.4(ABCC8):c.2277C>T (p.Thr759=) rs1801261
NM_000352.4(ABCC8):c.2485C>T (p.Leu829=) rs1805036
NM_000352.4(ABCC8):c.2538C>T (p.His846=) rs73423037
NM_000352.4(ABCC8):c.257T>G (p.Val86Gly) rs193929360
NM_000352.4(ABCC8):c.2610C>T (p.Ala870=) rs111967655
NM_000352.4(ABCC8):c.291-3C>T rs764107333
NM_000352.4(ABCC8):c.330C>T (p.Ala110=) rs8192695
NM_000352.4(ABCC8):c.3329+6C>T rs113873225
NM_000352.4(ABCC8):c.3399+13G>A rs182340196
NM_000352.4(ABCC8):c.354C>T (p.Val118=) rs137873871
NM_000352.4(ABCC8):c.3554C>A (p.Ser1185Tyr) rs193929369
NM_000352.4(ABCC8):c.3819G>A (p.Arg1273=) rs1799859
NM_000352.4(ABCC8):c.394T>C (p.Phe132Leu) rs80356637
NM_000352.4(ABCC8):c.4090G>A (p.Val1364Ile) rs138642224
NM_000352.4(ABCC8):c.4105G>T (p.Ala1369Ser) rs757110
NM_000352.4(ABCC8):c.4198G>A (p.Gly1400Arg) rs137852676
NM_000352.4(ABCC8):c.423G>A (p.Val141=) rs116132921
NM_000352.4(ABCC8):c.4270A>G (p.Ile1424Val) rs80356653
NM_000352.4(ABCC8):c.4431C>T (p.Gly1477=) rs145673861
NM_000352.4(ABCC8):c.4542C>A (p.Ala1514=) rs113282901
NM_000352.4(ABCC8):c.4714G>A (p.Val1572Ile) rs8192690
NM_000352.4(ABCC8):c.4728C>T (p.Phe1576=) rs73419228
NM_000352.4(ABCC8):c.579+14C>T rs2301703
NM_000352.4(ABCC8):c.638T>G (p.Leu213Arg) rs80356642
NM_000525.3(KCNJ11):c.-154G>T rs539975714
NM_000525.3(KCNJ11):c.-498T>C rs529946415
NM_000525.3(KCNJ11):c.-559G>C rs547932593
NM_000525.3(KCNJ11):c.108G>A (p.Val36=) rs112070496
NM_000525.3(KCNJ11):c.124T>C (p.Cys42Arg) rs80356610
NM_000525.3(KCNJ11):c.149G>C (p.Arg50Pro) rs80356611
NM_000525.3(KCNJ11):c.158G>A (p.Gly53Asp) rs80356615
NM_000525.3(KCNJ11):c.175G>A (p.Val59Met) rs80356616
NM_000525.3(KCNJ11):c.176T>G (p.Val59Gly) rs80356617
NM_000525.3(KCNJ11):c.497G>T (p.Cys166Phe) rs80356618
NM_000525.3(KCNJ11):c.499A>C (p.Ile167Leu) rs80356620
NM_000525.3(KCNJ11):c.509A>G (p.Lys170Arg) rs80356621
NM_000525.3(KCNJ11):c.510G>C (p.Lys170Asn) rs80356622
NM_000525.3(KCNJ11):c.601C>T (p.Arg201Cys) rs80356625
NM_000525.3(KCNJ11):c.602G>A (p.Arg201His) rs80356624
NM_000525.3(KCNJ11):c.67A>G (p.Lys23Glu) rs5219
NM_000525.3(KCNJ11):c.964G>A (p.Glu322Lys) rs193929355
NM_000525.3(KCNJ11):c.989A>G (p.Tyr330Cys) rs193929356
NM_001351297.1(ABCC8):c.1060G>A (p.Ala354Thr) rs145136257
NM_178161.2(PTF1A):c.787T>C (p.Ser263Pro) rs7918487

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