ClinVar Miner

Variants with conflicting interpretations studied for Maturity onset diabetes mellitus in young

Coded as:
Minimum review status of the submission for Maturity onset diabetes mellitus in young: Y axis collection method of the submission for Maturity onset diabetes mellitus in young:
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
200 154 0 58 19 4 5 75

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
Maturity onset diabetes mellitus in young pathogenic uncertain significance likely benign benign drug response risk factor
likely pathogenic 0 1 1 1 0 1
uncertain significance 0 0 12 0 0 0
likely benign 4 7 0 50 1 2
benign 0 0 8 0 0 1

Condition to condition summary #

Total conditions: 27
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 9 0 51 11 0 1 62
Monogenic diabetes 0 1 0 12 1 0 1 14
not provided 0 8 0 8 1 0 0 9
Islet cell hyperplasia 0 0 0 6 0 0 0 6
Hyperinsulinism, Dominant/Recessive 0 45 0 2 3 0 0 5
Permanent neonatal diabetes mellitus 0 31 0 2 3 0 0 5
Transient Neonatal Diabetes, Dominant 0 45 0 2 3 0 0 5
Diabetes mellitus type 2 0 0 0 0 1 2 1 3
Dystonia 0 0 0 3 0 0 0 3
Segawa syndrome, autosomal recessive 0 8 0 2 1 0 0 3
Maturity-onset diabetes of the young, type 2 0 2 0 0 2 0 0 2
Maturity-onset diabetes of the young, type 11 0 0 0 0 0 0 2 2
Maturity-onset diabetes of the young, type 3 0 2 0 0 2 0 0 2
Systemic lupus erythematosus 0 0 0 1 0 0 1 2
Diabetes mellitus, ketosis-prone, susceptibility to 0 0 0 0 0 1 0 1
Exercise stress response, impaired, association with 0 0 0 0 0 1 0 1
Insulin resistance, susceptibility to 0 0 0 0 0 1 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 7 0 0 0 0 0 0 1 1
Neonatal diabetes mellitus 0 1 0 1 0 0 0 1
SERUM HDL CHOLESTEROL LEVEL, MODIFIER OF 0 0 0 0 0 1 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: 75
Download table as spreadsheet
HGVS dbSNP
NM_000162.3(GCK):c.1253+8C>T rs2908274
NM_000162.3(GCK):c.208+11G>A rs77440690
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_000207.2(INS):c.*9C>T rs3842752
NM_000207.2(INS):c.-18+4_-18+5insTTGC rs3842740
NM_000207.2(INS):c.-9C>T rs5505
NM_000209.3(PDX1):c.226G>A (p.Asp76Asn) rs137852783
NM_000352.4(ABCC8):c.4714G>A (p.Val1572Ile) rs8192690
NM_000352.4(ABCC8):c.4728C>T (p.Phe1576=) rs73419228
NM_000360.3(TH):c.*277G>A rs3842725
NM_000360.3(TH):c.1278G>A (p.Thr426=) rs36097848
NM_000360.3(TH):c.1401C>T (p.Asp467=) rs3842724
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_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.1009G>A (p.Val337Ile) rs5215
NM_000525.3(KCNJ11):c.1089A>G (p.Ser363=) rs5214
NM_000525.3(KCNJ11):c.108G>A (p.Val36=) rs112070496
NM_000525.3(KCNJ11):c.1143G>A (p.Lys381=) rs8175351
NM_000525.3(KCNJ11):c.1154C>G (p.Ser385Cys) rs41282930
NM_000525.3(KCNJ11):c.570C>T (p.Ala190=) rs5218
NM_000525.3(KCNJ11):c.67A>G (p.Lys23Glu) rs5219
NM_000525.3(KCNJ11):c.801C>G (p.Leu267=) rs5216
NM_000525.3(KCNJ11):c.808C>G (p.Leu270Val) rs1800467
NM_000545.6(HNF1A):c.1310-12C>T rs193922579
NM_000545.6(HNF1A):c.1375C>T (p.Leu459=) rs2259820
NM_000545.6(HNF1A):c.1377G>A (p.Leu459=) rs118028009
NM_000545.6(HNF1A):c.1460G>A (p.Ser487Asn) rs2464196
NM_000545.6(HNF1A):c.1501+7G>A rs2464195
NM_000545.6(HNF1A):c.1539C>T (p.Thr513=) rs193922584
NM_000545.6(HNF1A):c.1545G>A (p.Thr515=) rs55834942
NM_000545.6(HNF1A):c.276C>T (p.Leu92=) rs34056805
NM_000545.6(HNF1A):c.293C>T (p.Ala98Val) rs1800574
NM_000545.6(HNF1A):c.336G>A (p.Pro112=) rs371365341
NM_000545.6(HNF1A):c.51C>G (p.Leu17=) rs1169289
NM_000545.6(HNF1A):c.79A>C (p.Ile27Leu) rs1169288
NM_001366110.1(PAX4):c.1014C>T (p.Ala338=) rs201607054
NM_001366110.1(PAX4):c.313C>T (p.Arg105Cys) rs144792551
NM_001366110.1(PAX4):c.421C>T (p.Arg141Trp) rs2233578
NM_001366110.1(PAX4):c.474C>T (p.Gly158=) rs77039439
NM_001366110.1(PAX4):c.543A>G (p.Gln181=) rs327517
NM_001366110.1(PAX4):c.598C>A (p.Arg200Ser) rs3824004
NM_001366110.1(PAX4):c.599G>A (p.Arg200His) rs2233580
NM_001715.2(BLK):c.*338T>G rs1042695
NM_001715.2(BLK):c.102C>T (p.Asp34=) rs75383960
NM_001715.2(BLK):c.116C>T (p.Pro39Leu) rs142352008
NM_001715.2(BLK):c.177C>G (p.Asp59Glu) rs146083915
NM_001715.2(BLK):c.211G>A (p.Ala71Thr) rs55758736
NM_001715.2(BLK):c.258G>A (p.Gln86=) rs56185487
NM_001715.2(BLK):c.330T>C (p.Ser110=) rs3816668
NM_001715.2(BLK):c.472+12G>A rs145058498
NM_001715.2(BLK):c.713G>A (p.Arg238Gln) rs141865425
NM_001715.2(BLK):c.843T>C (p.Phe281=) rs2306234
NM_001715.2(BLK):c.974A>C (p.Lys325Thr) rs77401687
NM_002500.4(NEUROD1):c.590C>A (p.Pro197His) rs8192556
NM_002500.4(NEUROD1):c.777C>T (p.Ser259=) rs115027760
NM_003597.4(KLF11):c.185A>G (p.Gln62Arg) rs35927125
NM_003597.4(KLF11):c.659C>T (p.Thr220Met) rs34336420
NM_003597.4(KLF11):c.86G>A (p.Arg29Gln) rs150096859
NM_199292.2(TH):c.1293+9C>T rs11564717

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