ClinVar Miner

Variants with conflicting interpretations studied for Monogenic diabetes

Coded as:
Minimum review status of the submission for Monogenic diabetes: Y axis collection method of the submission for Monogenic diabetes:
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
120 59 1 58 40 4 10 96

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
Monogenic diabetes pathogenic likely pathogenic uncertain significance likely benign benign protective risk factor
pathogenic 0 1 0 0 0 0 0
likely pathogenic 1 0 1 0 0 0 0
uncertain significance 3 4 1 11 7 0 0
likely benign 0 1 20 0 24 1 1
benign 2 0 7 32 0 1 1

Condition to condition summary #

Total conditions: 33
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 51 0 30 21 0 1 49
not provided 0 39 0 12 16 0 3 31
Alstrom syndrome 0 14 0 10 5 0 0 15
Maturity onset diabetes mellitus in young 0 1 0 12 1 0 1 14
WFS1-Related Spectrum Disorders 0 1 0 7 2 0 1 10
Nonsyndromic Hearing Loss, Dominant 0 2 0 6 1 0 0 7
Obesity 0 1 1 1 2 2 1 4
Charcot-Marie-Tooth disease, type 2 0 3 0 1 2 0 0 3
Diabetes mellitus type 2 0 0 0 0 2 1 1 3
Atrioventricular septal defect 5 0 1 0 1 1 0 0 2
Hyperinsulinism, Dominant 0 1 0 2 0 0 0 2
Hyperinsulinism, Dominant/Recessive 0 0 0 2 0 0 0 2
Maturity-onset diabetes of the young, type 2 0 3 0 0 0 0 2 2
Maturity-onset diabetes of the young, type 4 0 1 0 1 1 0 0 2
Monogenic Non-Syndromic Obesity 0 2 0 1 1 0 0 2
Neonatal diabetes mellitus 0 0 0 1 1 0 0 2
Transient Neonatal Diabetes, Dominant 0 0 0 2 0 0 0 2
Cardiomyopathy 0 0 0 1 0 0 0 1
Congenital generalized lipodystrophy 0 0 0 0 1 0 0 1
Diabetes mellitus, ketosis-prone, susceptibility to 0 0 0 0 0 1 0 1
Diabetes mellitus, neonatal, with congenital hypothyroidism 0 3 0 1 0 0 0 1
Familial partial lipodystrophy 2 0 1 0 1 0 0 0 1
Hyperinsulinism-hyperammonemia syndrome 0 0 0 1 0 0 0 1
Insulin-resistant diabetes mellitus AND acanthosis nigricans 0 3 0 1 0 0 0 1
Leptin deficiency or dysfunction 0 0 0 1 0 0 0 1
Leptin receptor deficiency 0 2 0 0 1 0 0 1
Maturity-onset diabetes of the young, type 11 0 0 0 0 0 0 1 1
Maturity-onset diabetes of the young, type 7 0 0 0 0 0 0 1 1
Neurologic Disorders/Seipinopathy 0 0 0 0 1 0 0 1
Persistent hyperinsulinemic hypoglycemia of infancy 0 0 0 0 0 0 1 1
WFS1-Related Disorders 0 0 0 0 0 0 1 1
Wolcott-Rallison dysplasia 0 3 0 1 0 0 0 1
Wolfram syndrome 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 96
Download table as spreadsheet
HGVS dbSNP
NM_000162.3(GCK):c.113A>C (p.Gln38Pro) rs1064794268
NM_000162.3(GCK):c.146C>A (p.Thr49Asn) rs193922286
NM_000162.3(GCK):c.748C>T (p.Arg250Cys) rs1057524904
NM_000162.4(GCK):c.31G>A (p.Ala11Thr) rs116093166
NM_000208.3(INSR):c.2243C>T (p.Ser748Leu) rs143523271
NM_000208.3(INSR):c.2838C>G (p.Asp946Glu) rs146588336
NM_000208.3(INSR):c.2971C>A (p.Leu991Ile) rs150114699
NM_000208.3(INSR):c.3034G>A (p.Val1012Met) rs1799816
NM_000209.3(PDX1):c.226G>A (p.Asp76Asn) rs137852783
NM_000209.3(PDX1):c.670G>A (p.Glu224Lys) rs137852787
NM_000209.3(PDX1):c.726_728dupGCC (p.Pro244_Gly245insPro) rs193922357
NM_000230.2(LEP):c.280G>A (p.Val94Met) rs17151919
NM_000340.1(SLC2A2):c.203C>T (p.Pro68Leu) rs7637863
NM_000340.1(SLC2A2):c.589G>A (p.Val197Ile) rs121909741
NM_000352.4(ABCC8):c.2992C>T (p.Arg998Ter) rs769518471
NM_000457.4(HNF4A):c.416C>T (p.Thr139Ile) rs1800961
NM_000525.3(KCNJ11):c.1154C>G (p.Ser385Cys) rs41282930
NM_000525.3(KCNJ11):c.808C>G (p.Leu270Val) rs1800467
NM_000545.6(HNF1A):c.1722C>A (p.Gly574=) rs141304623
NM_000545.6(HNF1A):c.293C>T (p.Ala98Val) rs1800574
NM_001042413.1(GLIS3):c.232C>G (p.Arg78Gly) rs148168366
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.598C>A (p.Arg200Ser) rs3824004
NM_001366110.1(PAX4):c.599G>A (p.Arg200His) rs2233580
NM_001715.2(BLK):c.177C>G (p.Asp59Glu) rs146083915
NM_001715.2(BLK):c.211G>A (p.Ala71Thr) rs55758736
NM_002303.5(LEPR):c.3019A>T (p.Ser1007Cys) rs145651189
NM_002500.4(NEUROD1):c.590C>A (p.Pro197His) rs8192556
NM_002666.4(PLIN1):c.1139C>T (p.Ala380Val) rs146385147
NM_002666.4(PLIN1):c.812C>T (p.Ala271Val) rs58361219
NM_003597.4(KLF11):c.410A>G (p.Asp137Gly) rs145933214
NM_003597.4(KLF11):c.659C>T (p.Thr220Met) rs34336420
NM_003597.4(KLF11):c.86G>A (p.Arg29Gln) rs150096859
NM_004836.6(EIF2AK3):c.154G>A (p.Ala52Thr) rs201593811
NM_004836.6(EIF2AK3):c.1756A>T (p.Ile586Leu) rs75385605
NM_005257.5(GATA6):c.1723G>C (p.Ala575Pro) rs149569288
NM_005257.5(GATA6):c.851C>G (p.Ala284Gly) rs185325359
NM_005271.4(GLUD1):c.104G>A (p.Gly35Glu) rs552066337
NM_005271.4(GLUD1):c.376G>A (p.Asp126Asn) rs139579928
NM_005327.4(HADH):c.275T>G (p.Phe92Cys) rs61735992
NM_005327.4(HADH):c.456G>T (p.Gln152His) rs1051519
NM_005327.4(HADH):c.881A>G (p.Asn294Ser) rs36030668
NM_005572.3(LMNA):c.1712G>A (p.Arg571His) rs200917748
NM_005912.2(MC4R):c.307G>A (p.Val103Ile) rs2229616
NM_005912.2(MC4R):c.466C>T (p.Gln156Ter) rs369841551
NM_005912.2(MC4R):c.606C>A (p.Phe202Leu) rs138281308
NM_005912.2(MC4R):c.749T>A (p.Leu250Gln) rs772393451
NM_005912.2(MC4R):c.751A>C (p.Ile251Leu) rs52820871
NM_006005.3(WFS1):c.1153G>A (p.Glu385Lys) rs71524353
NM_006005.3(WFS1):c.1294C>G (p.Leu432Val) rs35031397
NM_006005.3(WFS1):c.1495C>T (p.Leu499Phe) rs114152068
NM_006005.3(WFS1):c.1554G>A (p.Met518Ile) rs138232538
NM_006005.3(WFS1):c.1597C>T (p.Pro533Ser) rs146132083
NM_006005.3(WFS1):c.1672C>T (p.Arg558Cys) rs199946797
NM_006005.3(WFS1):c.1726G>A (p.Gly576Ser) rs1805069
NM_006005.3(WFS1):c.1760G>A (p.Arg587Gln) rs71539657
NM_006005.3(WFS1):c.1805C>T (p.Ala602Val) rs2230720
NM_006005.3(WFS1):c.2012C>T (p.Ala671Val) rs71530907
NM_006005.3(WFS1):c.227G>T (p.Gly76Val) rs200135768
NM_006005.3(WFS1):c.2327A>T (p.Glu776Val) rs56002719
NM_006005.3(WFS1):c.2335G>A (p.Val779Met) rs141328044
NM_006005.3(WFS1):c.2452C>T (p.Arg818Cys) rs35932623
NM_006005.3(WFS1):c.2596G>A (p.Asp866Asn) rs3821945
NM_006005.3(WFS1):c.2611G>A (p.Val871Met) rs71532874
NM_006005.3(WFS1):c.325C>T (p.His109Tyr) rs112871383
NM_006005.3(WFS1):c.353A>C (p.Asp118Ala) rs71524349
NM_006005.3(WFS1):c.577A>C (p.Lys193Gln) rs41264699
NM_006996.2(SLC19A2):c.796G>A (p.Val266Met) rs75099879
NM_015120.4(ALMS1):c.10275G>C (p.Lys3425Asn) rs34398445
NM_015120.4(ALMS1):c.10306A>G (p.Lys3436Glu) rs34071195
NM_015120.4(ALMS1):c.10631C>G (p.Thr3544Ser) rs45501594
NM_015120.4(ALMS1):c.10754A>T (p.Gln3585Leu) rs144486524
NM_015120.4(ALMS1):c.1456A>G (p.Ile486Val) rs73945001
NM_015120.4(ALMS1):c.1874A>G (p.His625Arg) rs41291187
NM_015120.4(ALMS1):c.2041C>G (p.Arg681Gly) rs115444326
NM_015120.4(ALMS1):c.4166C>T (p.Pro1389Leu) rs377354387
NM_015120.4(ALMS1):c.4991C>T (p.Thr1664Ile) rs188807564
NM_015120.4(ALMS1):c.5436G>C (p.Lys1812Asn) rs78039319
NM_015120.4(ALMS1):c.614A>C (p.Glu205Ala) rs200054604
NM_015120.4(ALMS1):c.6364G>C (p.Val2122Leu) rs200368564
NM_015120.4(ALMS1):c.6467A>G (p.Asp2156Gly) rs58093963
NM_015120.4(ALMS1):c.6556C>T (p.Pro2186Ser) rs77555300
NM_015120.4(ALMS1):c.6755A>G (p.Asp2252Gly) rs28730855
NM_015120.4(ALMS1):c.7271A>G (p.Asn2424Ser) rs75145370
NM_015120.4(ALMS1):c.8260C>A (p.His2754Asn) rs200718841
NM_015120.4(ALMS1):c.8838C>G (p.Asn2946Lys) rs35062203
NM_015120.4(ALMS1):c.9392C>G (p.Pro3131Arg) rs200586877
NM_032667.6(BSCL2):c.1088T>C (p.Leu363Pro) rs145649423
NM_032667.6(BSCL2):c.1175G>A (p.Arg392His) rs149466797
NM_152629.3(GLIS3):c.2221C>T (p.Leu741Phe) rs76094493
NM_152629.3(GLIS3):c.473G>C (p.Gly158Ala) rs35154632
NM_170707.3(LMNA):c.1045C>T (p.Arg349Trp) rs267607555
NM_173560.3(RFX6):c.1733G>C (p.Arg578Pro) rs146115506
NM_173560.3(RFX6):c.2039C>A (p.Thr680Lys) rs146081967
NM_173560.3(RFX6):c.50C>A (p.Ala17Glu) rs9489056

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