| NM_001287174.2(ABCC8):c.4181G>A (p.Arg1394His) |
single nucleotide variant |
Persistent hyperinsulinemic hypoglycemia of infancy [RCV000671471]|not provided [RCV000518373] |
Chr11:17395872 [GRCh38]
Chr11:17417419 [GRCh37]
Chr11:11p15.1 |
likely pathogenic|uncertain significance |
| NM_001287174.2(ABCC8):c.683G>A (p.Gly228Asp) |
single nucleotide variant |
Familial hyperinsulinism [RCV000590369]|not provided [RCV000201871] |
Chr11:17461722 [GRCh38]
Chr11:17483269 [GRCh37]
Chr11:11p15.1 |
pathogenic |
| NM_001287174.2(ABCC8):c.1732_1746dup (p.Ala578_Leu582dup) |
duplication |
not provided [RCV000201873] |
Chr11:17430885..17430899 [GRCh38]
Chr11:17452432..17452446 [GRCh37]
Chr11:11p15.1 |
pathogenic |
| NM_001287174.2(ABCC8):c.2698-2A>T |
single nucleotide variant |
not provided [RCV000201888] |
Chr11:17408519 [GRCh38]
Chr11:17430066 [GRCh37]
Chr11:11p15.1 |
pathogenic |
| NM_001287174.2(ABCC8):c.4457_4458AG[1] (p.Arg1487fs) |
microsatellite |
not provided [RCV000201891] |
Chr11:17394354..17394355 [GRCh38]
Chr11:17415901..17415902 [GRCh37]
Chr11:11p15.1 |
pathogenic |
| NM_001287174.2(ABCC8):c.72C>A (p.Asn24Lys) |
single nucleotide variant |
not provided [RCV000201893] |
Chr11:17476705 [GRCh38]
Chr11:17498252 [GRCh37]
Chr11:11p15.1 |
pathogenic |
| NM_001287174.2(ABCC8):c.4594A>C (p.Thr1532Pro) |
single nucleotide variant |
Transient neonatal diabetes mellitus 2 [RCV000853271]|not specified [RCV000516737] |
Chr11:17393714 [GRCh38]
Chr11:17415261 [GRCh37]
Chr11:11p15.1 |
likely pathogenic|uncertain significance |
| NM_001287174.2(ABCC8):c.3458C>A (p.Ala1153Asp) |
single nucleotide variant |
not specified [RCV000517181] |
Chr11:17404614 [GRCh38]
Chr11:17426161 [GRCh37]
Chr11:11p15.1 |
uncertain significance |
| NM_001287174.2(ABCC8):c.257T>C (p.Val86Ala) |
single nucleotide variant |
Permanent neonatal diabetes mellitus [RCV000020285] |
Chr11:17474919 [GRCh38]
Chr11:17496466 [GRCh37]
Chr11:11p15.1 |
pathogenic |
| NM_001287174.2(ABCC8):c.394T>G (p.Phe132Val) |
single nucleotide variant |
Permanent neonatal diabetes mellitus [RCV000020287]|Neonatal diabetes mellitus [RCV000029258] |
Chr11:17470119 [GRCh38]
Chr11:17491666 [GRCh37]
Chr11:11p15.1 |
pathogenic|likely pathogenic|not provided |
| NM_001287174.2(ABCC8):c.404T>C (p.Leu135Pro) |
single nucleotide variant |
Permanent neonatal diabetes mellitus [RCV000020288] |
Chr11:17470109 [GRCh38]
Chr11:17491656 [GRCh37]
Chr11:11p15.1 |
pathogenic |
| NM_001287174.2(ABCC8):c.627C>A (p.Asp209Glu) |
single nucleotide variant |
Permanent neonatal diabetes mellitus [RCV000020289] |
Chr11:17461778 [GRCh38]
Chr11:17483325 [GRCh37]
Chr11:11p15.1 |
pathogenic |
| NM_001287174.2(ABCC8):c.631C>A (p.Gln211Lys) |
single nucleotide variant |
Permanent neonatal diabetes mellitus [RCV000020290] |
Chr11:17461774 [GRCh38]
Chr11:17483321 [GRCh37]
Chr11:11p15.1 |
pathogenic |
| NM_001287174.2(ABCC8):c.674T>C (p.Leu225Pro) |
single nucleotide variant |
Permanent neonatal diabetes mellitus [RCV000020291] |
Chr11:17461731 [GRCh38]
Chr11:17483278 [GRCh37]
Chr11:11p15.1 |
pathogenic |
| NM_000352.4:c.(?_1818)_(1923_?)del |
deletion |
Persistent hyperinsulinemic hypoglycemia of infancy [RCV000032666] |
Chr11:11p15.1 |
pathogenic |
| NM_001287174.2(ABCC8):c.512dup (p.Thr172fs) |
duplication |
Persistent hyperinsulinemic hypoglycemia of infancy [RCV000032667] |
Chr11:17463505 [GRCh38]
Chr11:17485052 [GRCh37]
Chr11:11p15.1 |
pathogenic |
| ABCC8, IVS8, A-G, -1013 |
single nucleotide variant |
Persistent hyperinsulinemic hypoglycemia of infancy [RCV000032668] |
Chr11:11p15.1 |
pathogenic |
| NM_001287174.2(ABCC8):c.-19A>G |
single nucleotide variant |
Hyperinsulinism, Dominant/Recessive [RCV000382247]|Neonatal diabetes mellitus [RCV000029248]|Permanent neonatal diabetes mellitus [RCV000267816]|Transient Neonatal Diabetes, Dominant [RCV000325185]|not specified [RCV000242519] |
Chr11:17476795 [GRCh38]
Chr11:17498342 [GRCh37]
Chr11:11p15.1 |
benign|likely benign|uncertain significance |
| NM_001287174.2(ABCC8):c.1332+17G>C |
single nucleotide variant |
Familial hyperinsulinism [RCV000029249]|familial hyperinsulinism [RCV000029249] |
Chr11:17448499 [GRCh38]
Chr11:17470046 [GRCh37]
Chr11:11p15.1 |
uncertain significance |
| NM_001287174.2(ABCC8):c.1572G>A (p.Thr524=) |
single nucleotide variant |
Hyperinsulinism, Dominant/Recessive [RCV000402755]|Neonatal diabetes mellitus [RCV000029250]|Permanent neonatal diabetes mellitus [RCV000295869]|Transient Neonatal Diabetes, Dominant [RCV000334556]|not provided [RCV000710373]|not specified [RCV000242823] |
Chr11:17442778 [GRCh38]
Chr11:17464325 [GRCh37]
Chr11:11p15.1 |
benign|likely benign |
| NM_001287174.2(ABCC8):c.1606T>C (p.Phe536Leu) |
single nucleotide variant |
Neonatal diabetes mellitus [RCV000029251] |
Chr11:17442744 [GRCh38]
Chr11:17464291 [GRCh37]
Chr11:11p15.1 |
likely pathogenic |
| NM_001287174.2(ABCC8):c.1616A>G (p.Tyr539Cys) |
single nucleotide variant |
Neonatal diabetes mellitus [RCV000029252] |
Chr11:17442734 [GRCh38]
Chr11:17464281 [GRCh37]
Chr11:11p15.1 |
likely pathogenic |
| NM_001287174.2(ABCC8):c.2117-12C>A |
single nucleotide variant |
Neonatal diabetes mellitus [RCV000029253]|not specified [RCV000251505] |
Chr11:17427166 [GRCh38]
Chr11:17448713 [GRCh37]
Chr11:11p15.1 |
likely benign|uncertain significance |
| NM_001287174.2(ABCC8):c.3332+6C>T |
single nucleotide variant |
Hyperinsulinism, Dominant/Recessive [RCV000323116]|Neonatal diabetes mellitus [RCV000029254]|Permanent neonatal diabetes mellitus [RCV000286774]|Transient Neonatal Diabetes, Dominant [RCV000376345]|not specified [RCV000144991] |
Chr11:17406616 [GRCh38]
Chr11:17428163 [GRCh37]
Chr11:11p15.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001287174.2(ABCC8):c.3520G>A (p.Val1174Met) |
single nucleotide variant |
Atrial septal defect [RCV000626670]|Neonatal diabetes mellitus [RCV000029255] |
Chr11:17404552 [GRCh38]
Chr11:17426099 [GRCh37]
Chr11:11p15.1 |
likely pathogenic |
| NM_001287174.2(ABCC8):c.3545T>G (p.Phe1182Cys) |
single nucleotide variant |
Neonatal diabetes mellitus [RCV000029256] |
Chr11:17404527 [GRCh38]
Chr11:17426074 [GRCh37]
Chr11:11p15.1 |
likely pathogenic |
| NM_001287174.2(ABCC8):c.3548G>A (p.Arg1183Gln) |
single nucleotide variant |
Neonatal diabetes mellitus [RCV000029257]|Transient neonatal diabetes mellitus 2 [RCV000193953] |
Chr11:17404524 [GRCh38]
Chr11:17426071 [GRCh37]
Chr11:11p15.1 |
pathogenic|likely pathogenic |
| NM_001287174.2(ABCC8):c.4123-19C>T |
single nucleotide variant |
Familial hyperinsulinism [RCV000029259]|familial hyperinsulinism [RCV000029259]|not specified [RCV000144997] |
Chr11:17395949 [GRCh38]
Chr11:17417496 [GRCh37]
Chr11:11p15.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001287174.2(ABCC8):c.413-5G>A |
single nucleotide variant |
Neonatal diabetes mellitus [RCV000029260]|Permanent neonatal diabetes mellitus [RCV000763721] |
Chr11:17463609 [GRCh38]
Chr11:17485156 [GRCh37]
Chr11:11p15.1 |
uncertain significance |
| NM_001287174.2(ABCC8):c.4138C>A (p.Arg1380Ser) |
single nucleotide variant |
Neonatal diabetes mellitus [RCV000029261]|Persistent hyperinsulinemic hypoglycemia of infancy [RCV000675131]|not specified [RCV000029261] |
Chr11:17395915 [GRCh38]
Chr11:17417462 [GRCh37]
Chr11:11p15.1 |
likely pathogenic|uncertain significance |
| NM_001287174.2(ABCC8):c.4139G>T (p.Arg1380Leu) |
single nucleotide variant |
Neonatal diabetes mellitus [RCV000029262] |
Chr11:17395914 [GRCh38]
Chr11:17417461 [GRCh37]
Chr11:11p15.1 |
likely pathogenic |
| NM_001287174.2(ABCC8):c.4201G>A (p.Gly1401Arg) |
single nucleotide variant |
Familial hyperinsulinism [RCV000029263]|Permanent neonatal diabetes mellitus [RCV000009657]|Persistent hyperinsulinemic hypoglycemia of infancy [RCV000169150]|familial hyperinsulinism [RCV000029263] |
Chr11:17395852 [GRCh38]
Chr11:17417399 [GRCh37]
Chr11:11p15.1 |
pathogenic|likely pathogenic |
| NM_001287174.2(ABCC8):c.4309C>T (p.Arg1437Ter) |
single nucleotide variant |
Familial hyperinsulinism [RCV000029264]|Permanent neonatal diabetes mellitus [RCV000763233]|Persistent hyperinsulinemic hypoglycemia of infancy [RCV000169593]|familial hyperinsulinism [RCV000029264] |
Chr11:17395611 [GRCh38]
Chr11:17417158 [GRCh37]
Chr11:11p15.1 |
pathogenic|likely pathogenic |
| NM_001287174.2(ABCC8):c.4371C>G (p.Ile1457Met) |
single nucleotide variant |
Neonatal diabetes mellitus [RCV000029265] |
Chr11:17395215 [GRCh38]
Chr11:17416762 [GRCh37]
Chr11:11p15.1 |
likely pathogenic |
| NM_001287174.2(ABCC8):c.4415-14C>T |
single nucleotide variant |
Neonatal diabetes mellitus [RCV000029266]|not specified [RCV000517239] |
Chr11:17394413 [GRCh38]
Chr11:17415960 [GRCh37]
Chr11:11p15.1 |
uncertain significance |
| NM_001287174.2(ABCC8):c.4454G>A (p.Gly1485Glu) |
single nucleotide variant |
Persistent hyperinsulinemic hypoglycemia of infancy [RCV000029267] |
Chr11:17394360 [GRCh38]
Chr11:17415907 [GRCh37]
Chr11:11p15.1 |
likely pathogenic |
| NM_001287174.2(ABCC8):c.4556T>G (p.Ile1519Ser) |
single nucleotide variant |
Neonatal diabetes mellitus [RCV000029268] |
Chr11:17393752 [GRCh38]
Chr11:17415299 [GRCh37]
Chr11:11p15.1 |
likely pathogenic |
| NM_001287174.2(ABCC8):c.4567G>A (p.Val1523Met) |
single nucleotide variant |
Neonatal diabetes mellitus [RCV000029269] |
Chr11:17393741 [GRCh38]
Chr11:17415288 [GRCh37]
Chr11:11p15.1 |
likely pathogenic |
| NM_001287174.2(ABCC8):c.4618G>A (p.Val1540Met) |
single nucleotide variant |
Neonatal diabetes mellitus [RCV000029270]|Permanent neonatal diabetes mellitus [RCV000501531] |
Chr11:17393122 [GRCh38]
Chr11:17414669 [GRCh37]
Chr11:11p15.1 |
likely pathogenic |
| NM_001287174.2(ABCC8):c.886G>A (p.Gly296Arg) |
single nucleotide variant |
Neonatal diabetes mellitus [RCV000029271]|Persistent hyperinsulinemic hypoglycemia of infancy [RCV000675093]|not specified [RCV000029271] |
Chr11:17460613 [GRCh38]
Chr11:17482160 [GRCh37]
Chr11:11p15.1 |
likely pathogenic|uncertain significance |
| NM_001287174.2(ABCC8):c.4310G>A (p.Arg1437Gln) |
single nucleotide variant |
Persistent hyperinsulinemic hypoglycemia of infancy [RCV000009654] |
Chr11:17395610 [GRCh38]
Chr11:17417157 [GRCh37]
Chr11:11p15.1 |
pathogenic |
| NM_001287174.2(ABCC8):c.2147G>T (p.Gly716Val) |
single nucleotide variant |
Persistent hyperinsulinemic hypoglycemia of infancy [RCV000009655]|not provided [RCV000077845] |
Chr11:17427124 [GRCh38]
Chr11:17448671 [GRCh37]
Chr11:11p15.1 |
pathogenic|not provided |
| NM_001287174.2(ABCC8):c.3992-9G>A |
single nucleotide variant |
Familial hyperinsulinism [RCV000590487]|Persistent hyperinsulinemic hypoglycemia of infancy [RCV000009656]|not provided [RCV000144995] |
Chr11:17397055 [GRCh38]
Chr11:17418602 [GRCh37]
Chr11:11p15.1 |
pathogenic |
| ABCC8, GLY1401ARG |
variation |
Permanent neonatal diabetes mellitus [RCV000009657] |
Chr11:11p15.1 |
pathogenic |
| NM_001287174.2(ABCC8):c.2295-1G>A |
single nucleotide variant |
Persistent hyperinsulinemic hypoglycemia of infancy [RCV000009658] |
Chr11:17414611 [GRCh38]
Chr11:17436158 [GRCh37]
Chr11:11p15.1 |
pathogenic |
| NM_001287174.2(ABCC8):c.1672-20A>G |
single nucleotide variant |
Persistent hyperinsulinemic hypoglycemia of infancy [RCV000009659] |
Chr11:17430979 [GRCh38]
Chr11:17452526 [GRCh37]
Chr11:11p15.1 |
pathogenic|uncertain significance |
| NM_001287174.1(ABCC8):c.4162_4164delTTC (p.Phe1388del) |
deletion |
Persistent hyperinsulinemic hypoglycemia of infancy [RCV000009660] |
Chr11:17395889..17395891 [GRCh38]
Chr11:17417436..17417438 [GRCh37]
Chr11:11p15.1 |
pathogenic |
| ABCC8, EX35, G-A |
single nucleotide variant |
Persistent hyperinsulinemic hypoglycemia of infancy [RCV000009661] |
Chr11:11p15.1 |
pathogenic |
| NM_001287174.2(ABCC8):c.4058G>C (p.Arg1353Pro) |
single nucleotide variant |
Persistent hyperinsulinemic hypoglycemia of infancy [RCV000009662] |
Chr11:17396980 [GRCh38]
Chr11:17418527 [GRCh37]
Chr11:11p15.1 |
pathogenic |
| NM_001287174.2(ABCC8):c.4261C>T (p.Arg1421Cys) |
single nucleotide variant |
Persistent hyperinsulinemic hypoglycemia of infancy [RCV000009663] |
Chr11:17395659 [GRCh38]
Chr11:17417206 [GRCh37]
Chr11:11p15.1 |
pathogenic|likely pathogenic |
| NM_001287174.2(ABCC8):c.4480C>T (p.Arg1494Trp) |
single nucleotide variant |
Persistent hyperinsulinemic hypoglycemia of infancy [RCV000009664]|not provided [RCV000710390] |
Chr11:17394334 [GRCh38]
Chr11:17415881 [GRCh37]
Chr11:11p15.1 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters |
| NM_001287174.2(ABCC8):c.4519G>A (p.Glu1507Lys) |
single nucleotide variant |
Persistent hyperinsulinemic hypoglycemia of infancy [RCV000009665]|not provided [RCV000201911] |
Chr11:17394295 [GRCh38]
Chr11:17415842 [GRCh37]
Chr11:11p15.1 |
pathogenic |
| NM_001287174.2(ABCC8):c.4058G>A (p.Arg1353His) |
single nucleotide variant |
Leucine-induced hypoglycemia [RCV000009666] |
Chr11:17396980 [GRCh38]
Chr11:17418527 [GRCh37]
Chr11:11p15.1 |
pathogenic |
| NM_001287174.2(ABCC8):c.560T>A (p.Val187Asp) |
single nucleotide variant |
Persistent hyperinsulinemic hypoglycemia of infancy [RCV000009667]|not provided [RCV000723825] |
Chr11:17463457 [GRCh38]
Chr11:17485004 [GRCh37]
Chr11:11p15.1 |
pathogenic |
| NM_001287174.2(ABCC8):c.4157_4159CCT[1] (p.Ser1387del) |
microsatellite |
Persistent hyperinsulinemic hypoglycemia of infancy [RCV000009668]|not provided [RCV000516204] |
Chr11:17395891..17395893 [GRCh38]
Chr11:17417438..17417440 [GRCh37]
Chr11:11p15.1 |
pathogenic |
| NM_000352.4(ABCC8):c.-190C>G |
single nucleotide variant |
Persistent hyperinsulinemic hypoglycemia of infancy [RCV000009669] |
Chr11:17476966 [GRCh38]
Chr11:17498513 [GRCh37]
Chr11:11p15.1 |
pathogenic |
| NM_001287174.2(ABCC8):c.394T>C (p.Phe132Leu) |
single nucleotide variant |
Diabetes mellitus, permanent neonatal, with neurologic features [RCV000009670]|Permanent neonatal diabetes mellitus [RCV000020286] |
Chr11:17470119 [GRCh38]
Chr11:17491666 [GRCh37]
Chr11:11p15.1 |
pathogenic |
| NM_001287174.2(ABCC8):c.638T>G (p.Leu213Arg) |
single nucleotide variant |
Permanent neonatal diabetes mellitus [RCV000009671] |
Chr11:17461767 [GRCh38]
Chr11:17483314 [GRCh37]
Chr11:11p15.1 |
pathogenic |
| NM_001287174.2(ABCC8):c.4273A>G (p.Ile1425Val) |
single nucleotide variant |
Permanent neonatal diabetes mellitus [RCV000009672] |
Chr11:17395647 [GRCh38]
Chr11:17417194 [GRCh37]
Chr11:11p15.1 |
pathogenic |
| NM_001287174.2(ABCC8):c.4138C>T (p.Arg1380Cys) |
single nucleotide variant |
Diabetes mellitus type 2 [RCV000009674]|Permanent neonatal diabetes mellitus [RCV000502425]|Transient neonatal diabetes mellitus 2 [RCV000009673] |
Chr11:17395915 [GRCh38]
Chr11:17417462 [GRCh37]
Chr11:11p15.1 |
pathogenic |
| NM_001287174.2(ABCC8):c.1744C>G (p.Leu582Val) |
single nucleotide variant |
Transient neonatal diabetes mellitus 2 [RCV000009675]|Diabetes mellitus type 2 [RCV000009676] |
Chr11:17430887 [GRCh38]
Chr11:17452434 [GRCh37]
Chr11:11p15.1 |
pathogenic |
| NM_001287174.2(ABCC8):c.215A>G (p.Asn72Ser) |
single nucleotide variant |
Permanent neonatal diabetes mellitus [RCV000009677] |
Chr11:17474961 [GRCh38]
Chr11:17496508 [GRCh37]
Chr11:11p15.1 |
pathogenic |
| NM_001287174.2(ABCC8):c.1144G>A (p.Glu382Lys) |
single nucleotide variant |
Permanent neonatal diabetes mellitus [RCV000009678] |
Chr11:17453151 [GRCh38]
Chr11:17474698 [GRCh37]
Chr11:11p15.1 |
pathogenic |
| NM_001287174.2(ABCC8):c.3557C>A (p.Ser1186Tyr) |
single nucleotide variant |
Permanent neonatal diabetes mellitus [RCV000009679] |
Chr11:17404515 [GRCh38]
Chr11:17426062 [GRCh37]
Chr11:11p15.1 |
pathogenic |
| NM_001287174.2(ABCC8):c.134C>T (p.Pro45Leu) |
single nucleotide variant |
Permanent neonatal diabetes mellitus [RCV000009680] |
Chr11:17476643 [GRCh38]
Chr11:17498190 [GRCh37]
Chr11:11p15.1 |
pathogenic |
| NM_001287174.2(ABCC8):c.257T>G (p.Val86Gly) |
single nucleotide variant |
Permanent neonatal diabetes mellitus [RCV000009681] |
Chr11:17474919 [GRCh38]
Chr11:17496466 [GRCh37]
Chr11:11p15.1 |
pathogenic |
| NM_001287174.2(ABCC8):c.4160C>T (p.Ser1387Phe) |
single nucleotide variant |
not provided [RCV000517310] |
Chr11:17395893 [GRCh38]
Chr11:17417440 [GRCh37]
Chr11:11p15.1 |
pathogenic |
| NM_001287174.2(ABCC8):c.3870+7G>A |
single nucleotide variant |
Persistent hyperinsulinemic hypoglycemia of infancy [RCV000665490]|not specified [RCV000517107] |
Chr11:17397677 [GRCh38]
Chr11:17419224 [GRCh37]
Chr11:11p15.1 |
uncertain significance |
| NM_001287174.2(ABCC8):c.1634del (p.Phe545fs) |
deletion |
Persistent hyperinsulinemic hypoglycemia of infancy [RCV000668965]|not provided [RCV000518203] |
Chr11:17432241 [GRCh38]
Chr11:17453788 [GRCh37]
Chr11:11p15.1 |
pathogenic |
| GRCh38/hg38 11p15.5-13(chr11:202758-31726224)x3 |
copy number gain |
Hypotension [RCV000053613]|See cases [RCV000053613] |
Chr11:202758..31726224 [GRCh38]
Chr11:202758..31747772 [GRCh37]
Chr11:192758..31704348 [NCBI36]
Chr11:11p15.5-13 |
pathogenic |
| NM_001287174.1(ABCC8):c.4488C>T (p.Phe1496=) |
single nucleotide variant |
Malignant melanoma [RCV000069274] |
Chr11:17394326 [GRCh38]
Chr11:17415873 [GRCh37]
Chr11:17372449 [NCBI36]
Chr11:11p15.1 |
not provided |
| NM_001287174.1(ABCC8):c.609G>A (p.Glu203=) |
single nucleotide variant |
Malignant melanoma [RCV000069275] |
Chr11:17461796 [GRCh38]
Chr11:17483343 [GRCh37]
Chr11:17439919 [NCBI36]
Chr11:11p15.1 |
not provided |
| NM_001287174.2(ABCC8):c.3820A>T (p.Arg1274Trp) |
single nucleotide variant |
Monogenic diabetes [RCV000664137] |
Chr11:17397734 [GRCh38]
Chr11:17419281 [GRCh37]
Chr11:11p15.1 |
uncertain significance |
| NM_001287174.2(ABCC8):c.4046A>G (p.Asn1349Ser) |
single nucleotide variant |
Monogenic diabetes [RCV000664135] |
Chr11:17396992 [GRCh38]
Chr11:17418539 [GRCh37]
Chr11:11p15.1 |
uncertain significance |
| NM_001287174.2(ABCC8):c.1391C>T (p.Ala464Val) |
single nucleotide variant |
Persistent hyperinsulinemic hypoglycemia of infancy [RCV000660451] |
Chr11:17443254 [GRCh38]
Chr11:17464801 [GRCh37]
Chr11:11p15.1 |
uncertain significance |
| NM_001287174.1(ABCC8):c.580-259C>T |
single nucleotide variant |
Lung cancer [RCV000109895] |
Chr11:17462084 [GRCh38]
Chr11:17483631 [GRCh37]
Chr11:11p15.1 |
uncertain significance |
| NM_001287174.2(ABCC8):c.4031A>T (p.Lys1344Met) |
single nucleotide variant |
not specified [RCV000255823] |
Chr11:17397007 [GRCh38]
Chr11:17418554 [GRCh37]
Chr11:11p15.1 |
uncertain significance |
| NM_001287174.2(ABCC8):c.4163_4165del (p.Phe1388del) |
deletion |
Familial hyperinsulinism [RCV000587070]|Persistent hyperinsulinemic hypoglycemia of infancy [RCV000177757]|not provided [RCV000201913] |
Chr11:17395888..17395890 [GRCh38]
Chr11:17417435..17417437 [GRCh37]
Chr11:11p15.1 |
pathogenic |
| NM_001287174.2(ABCC8):c.4149T>G (p.Ser1383Arg) |
single nucleotide variant |
Persistent hyperinsulinemic hypoglycemia of infancy [RCV000256388] |
Chr11:17395904 [GRCh38]
Chr11:17417451 [GRCh37]
Chr11:11p15.1 |
likely pathogenic |
| NM_001287174.2(ABCC8):c.1332+4del |
deletion |
Hyperinsulinism, Dominant/Recessive [RCV000271496]|Permanent neonatal diabetes mellitus [RCV000306595]|Persistent hyperinsulinemic hypoglycemia of infancy [RCV000144977]|Transient Neonatal Diabetes, Dominant [RCV000363722]|not specified [RCV000504519] |
Chr11:17448512 [GRCh38]
Chr11:17470059 [GRCh37]
Chr11:11p15.1 |
likely benign|uncertain significance |
| NM_001287174.2(ABCC8):c.1562G>A (p.Arg521Gln) |
single nucleotide variant |
Diabetes mellitus [RCV000144978]|Familial hyperinsulinism [RCV000722048] |
Chr11:17442788 [GRCh38]
Chr11:17464335 [GRCh37]
Chr11:11p15.1 |
likely pathogenic|uncertain significance |
| NM_001287174.2(ABCC8):c.2117-3C>T |
single nucleotide variant |
Hyperinsulinism, Dominant/Recessive [RCV000396912]|Permanent neonatal diabetes mellitus [RCV000306691]|Persistent hyperinsulinemic hypoglycemia of infancy [RCV000576400]|Transient Neonatal Diabetes, Dominant [RCV000341582]|not specified [RCV000144983] |
Chr11:17427157 [GRCh38]
Chr11:17448704 [GRCh37]
Chr11:11p15.1 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_001287174.2(ABCC8):c.2295-34T>C |
single nucleotide variant |
not specified [RCV000144985] |
Chr11:17414644 [GRCh38]
Chr11:17436191 [GRCh37]
Chr11:11p15.1 |
likely benign |
| NM_001287174.2(ABCC8):c.2559+22G>A |
single nucleotide variant |
not specified [RCV000144988] |
Chr11:17412644 [GRCh38]
Chr11:17434191 [GRCh37]
Chr11:11p15.1 |
likely benign |
| NM_001287174.2(ABCC8):c.2823+17A>G |
single nucleotide variant |
Persistent hyperinsulinemic hypoglycemia of infancy [RCV000576868]|not specified [RCV000144989] |
Chr11:17408375 [GRCh38]
Chr11:17429922 [GRCh37]
Chr11:11p15.1 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_001287174.2(ABCC8):c.3512del (p.Leu1171fs) |
deletion |
Persistent hyperinsulinemic hypoglycemia of infancy [RCV000144992] |
Chr11:17404560 [GRCh38]
Chr11:17426107 [GRCh37]
Chr11:11p15.1 |
pathogenic |
| NM_001287174.2(ABCC8):c.4123-27T>C |
single nucleotide variant |
not specified [RCV000144998] |
Chr11:17395957 [GRCh38]
Chr11:17417504 [GRCh37]
Chr11:11p15.1 |
likely benign |
| NM_001287174.2(ABCC8):c.4177T>G (p.Phe1393Val) |
single nucleotide variant |
not provided [RCV000144999] |
Chr11:17395876 [GRCh38]
Chr11:17417423 [GRCh37]
Chr11:11p15.1 |
pathogenic |
| NM_001287174.2(ABCC8):c.4612-40A>G |
single nucleotide variant |
not specified [RCV000145002] |
Chr11:17393168 [GRCh38]
Chr11:17414715 [GRCh37]
Chr11:11p15.1 |
likely benign |
| NM_001287174.2(ABCC8):c.579+14C>T |
single nucleotide variant |
Hyperinsulinism, Dominant/Recessive [RCV000286439]|Permanent neonatal diabetes mellitus [RCV000340412]|Persistent hyperinsulinemic hypoglycemia of infancy [RCV000576808]|Transient Neonatal Diabetes, Dominant [RCV000378527]|not specified [RCV000145005] |
Chr11:17463424 [GRCh38]
Chr11:17484971 [GRCh37]
Chr11:11p15.1 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_001287174.2(ABCC8):c.823-8C>T |
single nucleotide variant |
not specified [RCV000145006] |
Chr11:17460684 [GRCh38]
Chr11:17482231 [GRCh37]
Chr11:11p15.1 |
likely benign |
| NM_001287174.2(ABCC8):c.878A>C (p.His293Pro) |
single nucleotide variant |
Persistent hyperinsulinemic hypoglycemia of infancy [RCV000145007] |
Chr11:17460621 [GRCh38]
Chr11:17482168 [GRCh37]
Chr11:11p15.1 |
uncertain significance |
| NM_001287174.2(ABCC8):c.1158C>T (p.Asn386=) |
single nucleotide variant |
Hyperinsulinism, Dominant/Recessive [RCV000367291]|Permanent neonatal diabetes mellitus [RCV000328896]|Transient Neonatal Diabetes, Dominant [RCV000276247]|not provided [RCV000710370]|not specified [RCV000144976] |
Chr11:17453137 [GRCh38]
Chr11:17474684 [GRCh37]
Chr11:11p15.1 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_001287174.2(ABCC8):c.1686C>T (p.His562=) |
single nucleotide variant |
Hyperinsulinism, Dominant/Recessive [RCV000359236]|Permanent neonatal diabetes mellitus [RCV000402117]|Persistent hyperinsulinemic hypoglycemia of infancy [RCV000576376]|Transient Neonatal Diabetes, Dominant [RCV000302706]|not specified [RCV000144979] |
Chr11:17430945 [GRCh38]
Chr11:17452492 [GRCh37]
Chr11:11p15.1 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_001287174.2(ABCC8):c.1926C>G (p.Pro642=) |
single nucleotide variant |
Hyperinsulinism, Dominant/Recessive [RCV000381876]|Permanent neonatal diabetes mellitus [RCV000347248]|Transient Neonatal Diabetes, Dominant [RCV000289964]|not specified [RCV000144980] |
Chr11:17428403 [GRCh38]
Chr11:17449950 [GRCh37]
Chr11:11p15.1 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_001287174.2(ABCC8):c.1947G>A (p.Lys649=) |
single nucleotide variant |
Hyperinsulinism, Dominant/Recessive [RCV000343598]|Permanent neonatal diabetes mellitus [RCV000286519]|Persistent hyperinsulinemic hypoglycemia of infancy [RCV000576654]|Transient Neonatal Diabetes, Dominant [RCV000378609]|not specified [RCV000144981] |
Chr11:17428382 [GRCh38]
Chr11:17449929 [GRCh37]
Chr11:11p15.1 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_001287174.2(ABCC8):c.207T>C (p.Pro69=) |
single nucleotide variant |
Hyperinsulinism, Dominant/Recessive [RCV000314568]|Permanent neonatal diabetes mellitus [RCV000334473]|Persistent hyperinsulinemic hypoglycemia of infancy [RCV000576854]|Transient Neonatal Diabetes, Dominant [RCV000405380]|not specified [RCV000144982] |
Chr11:17474969 [GRCh38]
Chr11:17496516 [GRCh37]
Chr11:11p15.1 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_001287174.2(ABCC8):c.2280C>T (p.Thr760=) |
single nucleotide variant |
Hyperinsulinism, Dominant/Recessive [RCV000333350]|Permanent neonatal diabetes mellitus [RCV000387837]|Transient Neonatal Diabetes, Dominant [RCV000260391]|not provided [RCV000710377]|not specified [RCV000144984] |
Chr11:17415318 [GRCh38]
Chr11:17436865 [GRCh37]
Chr11:11p15.1 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_001287174.2(ABCC8):c.2488C>T (p.Leu830=) |
single nucleotide variant |
Hyperinsulinism, Dominant/Recessive [RCV000269562]|Permanent neonatal diabetes mellitus [RCV000364184]|Persistent hyperinsulinemic hypoglycemia of infancy [RCV000576603]|Transient Neonatal Diabetes, Dominant [RCV000304886]|not specified [RCV000144986] |
Chr11:17412737 [GRCh38]
Chr11:17434284 [GRCh37]
Chr11:11p15.1 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_001287174.2(ABCC8):c.2541C>T (p.His847=) |
single nucleotide variant |
Hyperinsulinism, Dominant/Recessive [RCV000338883]|Permanent neonatal diabetes mellitus [RCV000279197]|Transient Neonatal Diabetes, Dominant [RCV000396687]|not specified [RCV000144987] |
Chr11:17412684 [GRCh38]
Chr11:17434231 [GRCh37]
Chr11:11p15.1 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_001287174.2(ABCC8):c.330C>T (p.Ala110=) |
single nucleotide variant |
Hyperinsulinism, Dominant/Recessive [RCV000380609]|Permanent neonatal diabetes mellitus [RCV000345830]|Transient Neonatal Diabetes, Dominant [RCV000288454]|not specified [RCV000144990] |
Chr11:17470183 [GRCh38]
Chr11:17491730 [GRCh37]
Chr11:11p15.1 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_001287174.2(ABCC8):c.3615C>T (p.Ala1205=) |
single nucleotide variant |
Hyperinsulinism, Dominant/Recessive [RCV000377901]|Permanent neonatal diabetes mellitus [RCV000283418]|Transient Neonatal Diabetes, Dominant [RCV000337179]|not provided [RCV000710381]|not specified [RCV000144993] |
Chr11:17402699 [GRCh38]
Chr11:17424246 [GRCh37]
Chr11:11p15.1 |
benign |
| NM_001287174.2(ABCC8):c.3822G>A (p.Arg1274=) |
single nucleotide variant |
Hyperinsulinism, Dominant/Recessive [RCV000276828]|Permanent neonatal diabetes mellitus [RCV000389902]|Persistent hyperinsulinemic hypoglycemia of infancy [RCV000576475]|Transient Neonatal Diabetes, Dominant [RCV000330489]|not specified [RCV000144994] |
Chr11:17397732 [GRCh38]
Chr11:17419279 [GRCh37]
Chr11:11p15.1 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_001287174.2(ABCC8):c.4108G>T (p.Ala1370Ser) |
single nucleotide variant |
Hyperinsulinism, Dominant/Recessive [RCV000269263]|Permanent neonatal diabetes mellitus [RCV000388290]|Persistent hyperinsulinemic hypoglycemia of infancy [RCV000576686]|Transient Neonatal Diabetes, Dominant [RCV000326750]|not specified [RCV000144996] |
Chr11:17396930 [GRCh38]
Chr11:17418477 [GRCh37]
Chr11:11p15.1 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_001287174.2(ABCC8):c.423G>A (p.Val141=) |
single nucleotide variant |
Hyperinsulinism, Dominant/Recessive [RCV000277787]|Permanent neonatal diabetes mellitus [RCV000297828]|Transient Neonatal Diabetes, Dominant [RCV000370073]|not provided [RCV000710387]|not specified [RCV000145000] |
Chr11:17463594 [GRCh38]
Chr11:17485141 [GRCh37]
Chr11:11p15.1 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_001287174.2(ABCC8):c.4434C>T (p.Gly1478=) |
single nucleotide variant |
Hyperinsulinism, Dominant/Recessive [RCV000351820]|Permanent neonatal diabetes mellitus [RCV000294704]|Persistent hyperinsulinemic hypoglycemia of infancy [RCV000145001]|Transient Neonatal Diabetes, Dominant [RCV000394786] |
Chr11:17394380 [GRCh38]
Chr11:17415927 [GRCh37]
Chr11:11p15.1 |
likely benign|uncertain significance |
| NM_001287174.2(ABCC8):c.4717G>A (p.Val1573Ile) |
single nucleotide variant |
Hyperinsulinism, Dominant/Recessive [RCV000389101]|Maturity onset diabetes mellitus in young [RCV000348648]|Maturity-onset diabetes of the young [RCV000348648]|Permanent neonatal diabetes mellitus [RCV000364373]|Transient Neonatal Diabetes, Dominant [RCV000293707]|not specified [RCV000145003] |
Chr11:17393023 [GRCh38]
Chr11:17414570 [GRCh37]
Chr11:11p15.1 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_001287174.2(ABCC8):c.4731C>T (p.Phe1577=) |
single nucleotide variant |
Hyperinsulinism, Dominant/Recessive [RCV000374176]|Maturity onset diabetes mellitus in young [RCV000259716]|Maturity-onset diabetes of the young [RCV000259716]|Permanent neonatal diabetes mellitus [RCV000346983]|Transient Neonatal Diabetes, Dominant [RCV000307362]|not specified [RCV000145004] |
Chr11:17393009 [GRCh38]
Chr11:17414556 [GRCh37]
Chr11:11p15.1 |
benign|likely benign|conflicting interpretations of pathogenicity |
| GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3 |
copy number gain |
See cases [RCV000133997] |
Chr11:446754..18904742 [GRCh38]
Chr11:446754..18926289 [GRCh37]
Chr11:436754..18882865 [NCBI36]
Chr11:11p15.5-15.1 |
pathogenic |
| NM_001287174.2(ABCC8):c.2613C>T (p.Ala871=) |
single nucleotide variant |
Hyperinsulinism, Dominant/Recessive [RCV000406499]|Permanent neonatal diabetes mellitus [RCV000351650]|Transient Neonatal Diabetes, Dominant [RCV000296584]|not specified [RCV000176259] |
Chr11:17410600 [GRCh38]
Chr11:17432147 [GRCh37]
Chr11:11p15.1 |
likely benign|uncertain significance |
| NM_001287174.2(ABCC8):c.4631T>C (p.Leu1544Pro) |
single nucleotide variant |
Persistent hyperinsulinemic hypoglycemia of infancy [RCV000169185]|not provided [RCV000800626] |
Chr11:17393109 [GRCh38]
Chr11:17414656 [GRCh37]
Chr11:11p15.1 |
pathogenic|likely pathogenic |
| NM_001287174.2(ABCC8):c.2800C>T (p.Arg934Ter) |
single nucleotide variant |
Persistent hyperinsulinemic hypoglycemia of infancy [RCV000169216]|not provided [RCV000201910] |
Chr11:17408415 [GRCh38]
Chr11:17429962 [GRCh37]
Chr11:11p15.1 |
pathogenic|likely pathogenic |
| NM_001287174.2(ABCC8):c.3127_3129delinsCAGCCAGGAACTG (p.Thr1043fs) |
indel |
Persistent hyperinsulinemic hypoglycemia of infancy [RCV000169253] |
Chr11:17406924..17406926 [GRCh38]
Chr11:17428471..17428473 [GRCh37]
Chr11:11p15.1 |
likely pathogenic |
| NM_001287174.2(ABCC8):c.2860C>T (p.Gln954Ter) |
single nucleotide variant |
Familial hyperinsulinism [RCV000780808]|Persistent hyperinsulinemic hypoglycemia of infancy [RCV000169265] |
Chr11:17407417 [GRCh38]
Chr11:17428964 [GRCh37]
Chr11:11p15.1 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_001287174.2(ABCC8):c.2509C>T (p.Arg837Ter) |
single nucleotide variant |
Permanent neonatal diabetes mellitus [RCV000763234]|Persistent hyperinsulinemic hypoglycemia of infancy [RCV000169276]|not provided [RCV000201895] |
Chr11:17412716 [GRCh38]
Chr11:17434263 [GRCh37]
Chr11:11p15.1 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_001287174.2(ABCC8):c.1678G>A (p.Val560Met) |
single nucleotide variant |
Hyperinsulinism, Dominant/Recessive [RCV000267408]|Permanent neonatal diabetes mellitus [RCV000363132]|Persistent hyperinsulinemic hypoglycemia of infancy [RCV000169284]|Transient Neonatal Diabetes, Dominant [RCV000324855] |
Chr11:17430953 [GRCh38]
Chr11:17452500 [GRCh37]
Chr11:11p15.1 |
likely benign |
| NM_001287174.2(ABCC8):c.4414G>A (p.Asp1472Asn) |
single nucleotide variant |
Familial hyperinsulinism [RCV000586940]|Persistent hyperinsulinemic hypoglycemia of infancy [RCV000169299] |
Chr11:17395172 [GRCh38]
Chr11:17416719 [GRCh37]
Chr11:11p15.1 |
pathogenic|likely pathogenic |
| NM_001287174.2(ABCC8):c.2116+2T>C |
single nucleotide variant |
Persistent hyperinsulinemic hypoglycemia of infancy [RCV000169482] |
Chr11:17427865 [GRCh38]
Chr11:17449412 [GRCh37]
Chr11:11p15.1 |
likely pathogenic |
| NM_001287174.2(ABCC8):c.291-2A>G |
single nucleotide variant |
Persistent hyperinsulinemic hypoglycemia of infancy [RCV000169506]|not provided [RCV000802759] |
Chr11:17470224 [GRCh38]
Chr11:17491771 [GRCh37]
Chr11:11p15.1 |
likely pathogenic |
| NM_001287174.2(ABCC8):c.2124_2127del (p.Leu708_Thr709insTer) |
deletion |
Persistent hyperinsulinemic hypoglycemia of infancy [RCV000169534] |
Chr11:17427144..17427147 [GRCh38]
Chr11:17448691..17448694 [GRCh37]
Chr11:11p15.1 |
likely pathogenic |
| NM_001287174.2(ABCC8):c.1252T>C (p.Cys418Arg) |
single nucleotide variant |
Permanent neonatal diabetes mellitus [RCV000763720]|Persistent hyperinsulinemic hypoglycemia of infancy [RCV000666629]|not provided [RCV000710372]|not specified [RCV000192390] |
Chr11:17448596 [GRCh38]
Chr11:17470143 [GRCh37]
Chr11:11p15.1 |
uncertain significance |
| NM_001287174.2(ABCC8):c.1707C>T (p.Ala569=) |
single nucleotide variant |
Hyperinsulinism, Dominant/Recessive [RCV000394777]|Permanent neonatal diabetes mellitus [RCV000356211]|Transient Neonatal Diabetes, Dominant [RCV000299115]|not specified [RCV000192409] |
Chr11:17430924 [GRCh38]
Chr11:17452471 [GRCh37]
Chr11:11p15.1 |
likely benign|uncertain significance |
| NM_001287174.2(ABCC8):c.563A>G (p.Asn188Ser) |
single nucleotide variant |
Persistent hyperinsulinemic hypoglycemia of infancy [RCV000192482]|not provided [RCV000517846] |
Chr11:17463454 [GRCh38]
Chr11:17485001 [GRCh37]
Chr11:11p15.1 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_001287174.2(ABCC8):c.239T>G (p.Met80Arg) |
single nucleotide variant |
Persistent hyperinsulinemic hypoglycemia of infancy [RCV000192892] |
Chr11:17474937 [GRCh38]
Chr11:17496484 [GRCh37]
Chr11:11p15.1 |
likely pathogenic |
| NM_001287174.2(ABCC8):c.3547C>T (p.Arg1183Trp) |
single nucleotide variant |
Transient neonatal diabetes mellitus 2 [RCV000192916] |
Chr11:17404525 [GRCh38]
Chr11:17426072 [GRCh37]
Chr11:11p15.1 |
pathogenic |
| NM_001287174.2(ABCC8):c.4519_4539dup (p.Glu1507_Asp1513dup) |
duplication |
Persistent hyperinsulinemic hypoglycemia of infancy [RCV000193129] |
Chr11:17394275..17394295 [GRCh38]
Chr11:17415822..17415842 [GRCh37]
Chr11:11p15.1 |
likely pathogenic |
| NM_001287174.2(ABCC8):c.806C>T (p.Ala269Val) |
single nucleotide variant |
not specified [RCV000193143] |
Chr11:17461599 [GRCh38]
Chr11:17483146 [GRCh37]
Chr11:11p15.1 |
uncertain significance |
| NM_001287174.2(ABCC8):c.4122+1G>A |
single nucleotide variant |
Persistent hyperinsulinemic hypoglycemia of infancy [RCV000193386] |
Chr11:17396915 [GRCh38]
Chr11:17418462 [GRCh37]
Chr11:11p15.1 |
pathogenic|likely pathogenic |
| NM_001287174.2(ABCC8):c.1858C>T (p.Arg620Cys) |
single nucleotide variant |
Persistent hyperinsulinemic hypoglycemia of infancy [RCV000671926]|not specified [RCV000193433] |
Chr11:17428630 [GRCh38]
Chr11:17450177 [GRCh37]
Chr11:11p15.1 |
likely benign|uncertain significance |
| NM_001287174.2(ABCC8):c.1384A>G (p.Ile462Val) |
single nucleotide variant |
Hyperinsulinism, Dominant/Recessive [RCV000396751]|Permanent neonatal diabetes mellitus [RCV000360233]|Transient Neonatal Diabetes, Dominant [RCV000303097]|not specified [RCV000193705] |
Chr11:17443261 [GRCh38]
Chr11:17464808 [GRCh37]
Chr11:11p15.1 |
likely benign|uncertain significance |
| NM_001287174.2(ABCC8):c.331G>A (p.Gly111Arg) |
single nucleotide variant |
Persistent hyperinsulinemic hypoglycemia of infancy [RCV000193936] |
Chr11:17470182 [GRCh38]
Chr11:17491729 [GRCh37]
Chr11:11p15.1 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_001287174.2(ABCC8):c.4317C>T (p.Asn1439=) |
single nucleotide variant |
not specified [RCV000194056] |
Chr11:17395269 [GRCh38]
Chr11:17416816 [GRCh37]
Chr11:11p15.1 |
uncertain significance |
| NM_001287174.2(ABCC8):c.947G>A (p.Gly316Glu) |
single nucleotide variant |
not specified [RCV000194186] |
Chr11:17460552 [GRCh38]
Chr11:17482099 [GRCh37]
Chr11:11p15.1 |
uncertain significance |
| NM_001287174.2(ABCC8):c.1063G>A (p.Ala355Thr) |
single nucleotide variant |
Diabetes mellitus type 2 [RCV000662058]|Hyperinsulinism, Dominant/Recessive [RCV000371893]|Permanent neonatal diabetes mellitus [RCV000279694]|Persistent hyperinsulinemic hypoglycemia of infancy [RCV000662059]|Transient Neonatal Diabetes, Dominant [RCV000333629]|not provided [RCV000710368]|not specified [RCV000194352] |
Chr11:17453232 [GRCh38]
Chr11:17474779 [GRCh37]
Chr11:11p15.1 |
likely benign|uncertain significance |
| NM_001287174.2(ABCC8):c.3348G>A (p.Thr1116=) |
single nucleotide variant |
not specified [RCV000194603] |
Chr11:17405548 [GRCh38]
Chr11:17427095 [GRCh37]
Chr11:11p15.1 |
uncertain significance |
| NM_001287174.2(ABCC8):c.1532T>C (p.Leu511Pro) |
single nucleotide variant |
Persistent hyperinsulinemic hypoglycemia of infancy [RCV000194750] |
Chr11:17442818 [GRCh38]
Chr11:17464365 [GRCh37]
Chr11:11p15.1 |
likely pathogenic |
| NM_001287174.2(ABCC8):c.2117-1G>A |
single nucleotide variant |
Persistent hyperinsulinemic hypoglycemia of infancy [RCV000194857] |
Chr11:17427155 [GRCh38]
Chr11:17448702 [GRCh37]
Chr11:11p15.1 |
pathogenic |
| NM_001287174.2(ABCC8):c.3758A>G (p.Glu1253Gly) |
single nucleotide variant |
not specified [RCV000194981] |
Chr11:17397796 [GRCh38]
Chr11:17419343 [GRCh37]
Chr11:11p15.1 |
uncertain significance |
| NM_001287174.2(ABCC8):c.4485C>T (p.Ala1495=) |
single nucleotide variant |
not specified [RCV000195089] |
Chr11:17394329 [GRCh38]
Chr11:17415876 [GRCh37]
Chr11:11p15.1 |
uncertain significance |
| NM_001287174.2(ABCC8):c.4154_4155del (p.Lys1385fs) |
deletion |
not provided [RCV000518119] |
Chr11:17395898..17395899 [GRCh38]
Chr11:17417445..17417446 [GRCh37]
Chr11:11p15.1 |
pathogenic |
| NM_001287174.2(ABCC8):c.3643C>T (p.Arg1215Trp) |
single nucleotide variant |
Familial hyperinsulinism [RCV000588494]|Persistent hyperinsulinemic hypoglycemia of infancy [RCV000666191]|not provided [RCV000223959] |
Chr11:17402671 [GRCh38]
Chr11:17424218 [GRCh37]
Chr11:11p15.1 |
pathogenic|likely pathogenic |
| NM_001287174.2(ABCC8):c.3560+20G>C |
single nucleotide variant |
not specified [RCV000246101] |
Chr11:17404492 [GRCh38]
Chr11:17426039 [GRCh37]
Chr11:11p15.1 |
likely benign |
| NM_001287174.2(ABCC8):c.822+20C>T |
single nucleotide variant |
not specified [RCV000243963] |
Chr11:17461563 [GRCh38]
Chr11:17483110 [GRCh37]
Chr11:11p15.1 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_001287174.2(ABCC8):c.4545C>A (p.Ala1515=) |
single nucleotide variant |
Hyperinsulinism, Dominant/Recessive [RCV000291223]|Permanent neonatal diabetes mellitus [RCV000378065]|Transient Neonatal Diabetes, Dominant [RCV000343814]|not specified [RCV000246698] |
Chr11:17394269 [GRCh38]
Chr11:17415816 [GRCh37]
Chr11:11p15.1 |
benign|likely benign |
| NM_001287174.2(ABCC8):c.4548+13C>T |
single nucleotide variant |
not provided [RCV000710391]|not specified [RCV000251638] |
Chr11:17394253 [GRCh38]
Chr11:17415800 [GRCh37]
Chr11:11p15.1 |
likely benign |
| NM_001287174.2(ABCC8):c.354C>T (p.Val118=) |
single nucleotide variant |
Hyperinsulinism, Dominant/Recessive [RCV000323715]|Permanent neonatal diabetes mellitus [RCV000377126]|Transient Neonatal Diabetes, Dominant [RCV000265731]|not provided [RCV000710380]|not specified [RCV000254079] |
Chr11:17470159 [GRCh38]
Chr11:17491706 [GRCh37]
Chr11:11p15.1 |
benign|likely benign |
| NM_001287174.2(ABCC8):c.2430A>G (p.Pro810=) |
single nucleotide variant |
not specified [RCV000251803] |
Chr11:17413442 [GRCh38]
Chr11:17434989 [GRCh37]
Chr11:11p15.1 |
likely benign |
| NM_001287174.2(ABCC8):c.3458C>T (p.Ala1153Val) |
single nucleotide variant |
not specified [RCV000517936] |
Chr11:17404614 [GRCh38]
Chr11:17426161 [GRCh37]
Chr11:11p15.1 |
uncertain significance |
| NM_001287174.2(ABCC8):c.-8G>T |
single nucleotide variant |
Hyperinsulinism, Dominant/Recessive [RCV000359986]|Permanent neonatal diabetes mellitus [RCV000264204]|Transient Neonatal Diabetes, Dominant [RCV000302860]|not specified [RCV000245897] |
Chr11:17476784 [GRCh38]
Chr11:17498331 [GRCh37]
Chr11:11p15.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001287174.2(ABCC8):c.2503C>T (p.Arg835Cys) |
single nucleotide variant |
Hyperinsulinism, Dominant/Recessive [RCV000303371]|Permanent neonatal diabetes mellitus [RCV000339611]|Transient Neonatal Diabetes, Dominant [RCV000396695] |
Chr11:17412722 [GRCh38]
Chr11:17434269 [GRCh37]
Chr11:11p15.1 |
likely benign |
| NM_001287174.2(ABCC8):c.4608C>T (p.Ile1536=) |
single nucleotide variant |
Hyperinsulinism, Dominant/Recessive [RCV000287014]|Permanent neonatal diabetes mellitus [RCV000379102]|Transient Neonatal Diabetes, Dominant [RCV000321052] |
Chr11:17393700 [GRCh38]
Chr11:17415247 [GRCh37]
Chr11:11p15.1 |
uncertain significance |
| NM_001287174.2(ABCC8):c.3227T>C (p.Ile1076Thr) |
single nucleotide variant |
Hyperinsulinism, Dominant/Recessive [RCV000382269]|Permanent neonatal diabetes mellitus [RCV000346537]|Transient Neonatal Diabetes, Dominant [RCV000287952] |
Chr11:17406727 [GRCh38]
Chr11:17428274 [GRCh37]
Chr11:11p15.1 |
uncertain significance |
| NM_001287174.2(ABCC8):c.3954C>G (p.Leu1318=) |
single nucleotide variant |
Hyperinsulinism, Dominant/Recessive [RCV000305055]|Permanent neonatal diabetes mellitus [RCV000269973]|Transient Neonatal Diabetes, Dominant [RCV000359920] |
Chr11:17397230 [GRCh38]
Chr11:17418777 [GRCh37]
Chr11:11p15.1 |
likely benign |
| NM_001287174.2(ABCC8):c.3555G>A (p.Ala1185=) |
single nucleotide variant |
Hyperinsulinism, Dominant/Recessive [RCV000314454]|Permanent neonatal diabetes mellitus [RCV000273585]|Transient Neonatal Diabetes, Dominant [RCV000368056]|not specified [RCV000502198] |
Chr11:17404517 [GRCh38]
Chr11:17426064 [GRCh37]
Chr11:11p15.1 |
likely benign |
| NM_001287174.2(ABCC8):c.2425C>A (p.Gln809Lys) |
single nucleotide variant |
Hyperinsulinism, Dominant/Recessive [RCV000310642]|Permanent neonatal diabetes mellitus [RCV000368130]|Transient Neonatal Diabetes, Dominant [RCV000273521] |
Chr11:17413447 [GRCh38]
Chr11:17434994 [GRCh37]
Chr11:11p15.1 |
likely benign |
| NM_001287174.2(ABCC8):c.-49G>C |
single nucleotide variant |
Hyperinsulinism, Dominant/Recessive [RCV000328844]|Permanent neonatal diabetes mellitus [RCV000385742]|Transient Neonatal Diabetes, Dominant [RCV000271414] |
Chr11:17476825 [GRCh38]
Chr11:17498372 [GRCh37]
Chr11:11p15.1 |
benign |
| NM_001287174.2(ABCC8):c.2638G>A (p.Asp880Asn) |
single nucleotide variant |
Hyperinsulinism, Dominant/Recessive [RCV000386179]|Permanent neonatal diabetes mellitus [RCV000331715]|Transient Neonatal Diabetes, Dominant [RCV000290773] |
Chr11:17410575 [GRCh38]
Chr11:17432122 [GRCh37]
Chr11:11p15.1 |
likely benign |
| NM_001287174.2(ABCC8):c.541A>T (p.Met181Leu) |
single nucleotide variant |
Hyperinsulinism, Dominant/Recessive [RCV000308838]|Permanent neonatal diabetes mellitus [RCV000343790]|Transient Neonatal Diabetes, Dominant [RCV000396837] |
Chr11:17463476 [GRCh38]
Chr11:17485023 [GRCh37]
Chr11:11p15.1 |
uncertain significance |
| NM_001287174.2(ABCC8):c.291-3C>T |
single nucleotide variant |
Hyperinsulinism, Dominant/Recessive [RCV000383921]|Permanent neonatal diabetes mellitus [RCV000291838]|Transient Neonatal Diabetes, Dominant [RCV000349251]|not provided [RCV000710052]|not specified [RCV000499468] |
Chr11:17470225 [GRCh38]
Chr11:17491772 [GRCh37]
Chr11:11p15.1 |
likely benign|uncertain significance |
| NM_001287174.2(ABCC8):c.3861C>T (p.Tyr1287=) |
single nucleotide variant |
Hyperinsulinism, Dominant/Recessive [RCV000365441]|Permanent neonatal diabetes mellitus [RCV000275432]|Transient Neonatal Diabetes, Dominant [RCV000310742] |
Chr11:17397693 [GRCh38]
Chr11:17419240 [GRCh37]
Chr11:11p15.1 |
likely benign |
| NM_001287174.2(ABCC8):c.4693A>G (p.Lys1565Glu) |
single nucleotide variant |
Hyperinsulinism, Dominant/Recessive [RCV000275583]|Permanent neonatal diabetes mellitus [RCV000367803]|Transient Neonatal Diabetes, Dominant [RCV000318584] |
Chr11:17393047 [GRCh38]
Chr11:17414594 [GRCh37]
Chr11:11p15.1 |
uncertain significance |
| NM_001287174.2(ABCC8):c.3115G>A (p.Asp1039Asn) |
single nucleotide variant |
Hyperinsulinism, Dominant/Recessive [RCV000394844]|Permanent neonatal diabetes mellitus [RCV000352427]|Transient Neonatal Diabetes, Dominant [RCV000292832] |
Chr11:17406938 [GRCh38]
Chr11:17428485 [GRCh37]
Chr11:11p15.1 |
uncertain significance |
| NM_001287174.2(ABCC8):c.4650C>T (p.Ile1550=) |
single nucleotide variant |
Hyperinsulinism, Dominant/Recessive [RCV000357088]|Permanent neonatal diabetes mellitus [RCV000317437]|Transient Neonatal Diabetes, Dominant [RCV000259922] |
Chr11:17393090 [GRCh38]
Chr11:17414637 [GRCh37]
Chr11:11p15.1 |
likely benign |
| NM_001287174.2(ABCC8):c.2041-12C>T |
single nucleotide variant |
Hyperinsulinism, Dominant/Recessive [RCV000260794]|Permanent neonatal diabetes mellitus [RCV000318223]|Transient Neonatal Diabetes, Dominant [RCV000353291]|not specified [RCV000517738] |
Chr11:17427954 [GRCh38]
Chr11:17449501 [GRCh37]
Chr11:11p15.1 |
likely benign|uncertain significance |
| NM_001287174.2(ABCC8):c.2060C>T (p.Thr687Met) |
single nucleotide variant |
Hyperinsulinism, Dominant/Recessive [RCV000314838]|Permanent neonatal diabetes mellitus [RCV000367366]|Transient Neonatal Diabetes, Dominant [RCV000276185] |
Chr11:17427923 [GRCh38]
Chr11:17449470 [GRCh37]
Chr11:11p15.1 |
likely benign |
| NM_001287174.2(ABCC8):c.486C>T (p.Ile162=) |
single nucleotide variant |
Hyperinsulinism, Dominant/Recessive [RCV000347325]|Permanent neonatal diabetes mellitus [RCV000312282]|Transient Neonatal Diabetes, Dominant [RCV000396828] |
Chr11:17463531 [GRCh38]
Chr11:17485078 [GRCh37]
Chr11:11p15.1 |
likely benign |
| NM_001287174.2(ABCC8):c.3402+13G>A |
single nucleotide variant |
Hyperinsulinism, Dominant/Recessive [RCV000356822]|Permanent neonatal diabetes mellitus [RCV000321738]|Persistent hyperinsulinemic hypoglycemia of infancy [RCV000672176]|Transient Neonatal Diabetes, Dominant [RCV000261950]|not specified [RCV000455279] |
Chr11:17405481 [GRCh38]
Chr11:17427028 [GRCh37]
Chr11:11p15.1 |
likely benign|uncertain significance |
| NM_001287174.2(ABCC8):c.413-15A>G |
single nucleotide variant |
Hyperinsulinism, Dominant/Recessive [RCV000354986]|Permanent neonatal diabetes mellitus [RCV000320143]|Transient Neonatal Diabetes, Dominant [RCV000262641] |
Chr11:17463619 [GRCh38]
Chr11:17485166 [GRCh37]
Chr11:11p15.1 |
uncertain significance |
| NM_001287174.2(ABCC8):c.1920G>A (p.Ala640=) |
single nucleotide variant |
Hyperinsulinism, Dominant/Recessive [RCV000295518]|Permanent neonatal diabetes mellitus [RCV000352596]|Transient Neonatal Diabetes, Dominant [RCV000404181]|not provided [RCV000590129] |
Chr11:17428568 [GRCh38]
Chr11:17450115 [GRCh37]
Chr11:11p15.1 |
benign|likely benign |
| NM_001287174.2(ABCC8):c.3438C>T (p.Ser1146=) |
single nucleotide variant |
Hyperinsulinism, Dominant/Recessive [RCV000260467]|Permanent neonatal diabetes mellitus [RCV000315723]|Transient Neonatal Diabetes, Dominant [RCV000369085] |
Chr11:17404634 [GRCh38]
Chr11:17426181 [GRCh37]
Chr11:11p15.1 |
likely benign |
| NM_001287174.2(ABCC8):c.4093G>A (p.Val1365Ile) |
single nucleotide variant |
Hyperinsulinism, Dominant/Recessive [RCV000349002]|Permanent neonatal diabetes mellitus [RCV000296366]|Transient Neonatal Diabetes, Dominant [RCV000387248]|not provided [RCV000710383] |
Chr11:17396945 [GRCh38]
Chr11:17418492 [GRCh37]
Chr11:11p15.1 |
likely benign|uncertain significance |
| NM_001287174.2(ABCC8):c.2259-3C>T |
single nucleotide variant |
Hyperinsulinism, Dominant/Recessive [RCV000280533]|Permanent neonatal diabetes mellitus [RCV000315649]|Transient Neonatal Diabetes, Dominant [RCV000374966] |
Chr11:17415342 [GRCh38]
Chr11:17436889 [GRCh37]
Chr11:11p15.1 |
uncertain significance |
| NM_001287174.2(ABCC8):c.1537G>A (p.Ala513Thr) |
single nucleotide variant |
Hyperinsulinism, Dominant/Recessive [RCV000280602]|Permanent neonatal diabetes mellitus [RCV000396760]|Transient Neonatal Diabetes, Dominant [RCV000337979] |
Chr11:17442813 [GRCh38]
Chr11:17464360 [GRCh37]
Chr11:11p15.1 |
uncertain significance |
| NM_000352.4(ABCC8):c.-72G>A |
single nucleotide variant |
Hyperinsulinism, Dominant/Recessive [RCV000371969]|Permanent neonatal diabetes mellitus [RCV000317363]|Transient Neonatal Diabetes, Dominant [RCV000281013]|not specified [RCV000503105] |
Chr11:17476848 [GRCh38]
Chr11:17498395 [GRCh37]
Chr11:11p15.1 |
likely benign|uncertain significance |
| NM_001287174.2(ABCC8):c.4242G>T (p.Pro1414=) |
single nucleotide variant |
Hyperinsulinism, Dominant/Recessive [RCV000399523]|Permanent neonatal diabetes mellitus [RCV000297318]|Transient Neonatal Diabetes, Dominant [RCV000354588] |
Chr11:17395678 [GRCh38]
Chr11:17417225 [GRCh37]
Chr11:11p15.1 |
uncertain significance |
| NM_001287174.2(ABCC8):c.3056C>T (p.Ser1019Leu) |
single nucleotide variant |
Hyperinsulinism, Dominant/Recessive [RCV000298394]|Permanent neonatal diabetes mellitus [RCV000394821]|Transient Neonatal Diabetes, Dominant [RCV000353216] |
Chr11:17406997 [GRCh38]
Chr11:17428544 [GRCh37]
Chr11:11p15.1 |
uncertain significance |
| NM_001287174.2(ABCC8):c.4122+15C>T |
single nucleotide variant |
Hyperinsulinism, Dominant/Recessive [RCV000327754]|Permanent neonatal diabetes mellitus [RCV000265605]|Transient Neonatal Diabetes, Dominant [RCV000384793] |
Chr11:17396901 [GRCh38]
Chr11:17418448 [GRCh37]
Chr11:11p15.1 |
likely benign |
| NM_001287174.2(ABCC8):c.3978C>T (p.Tyr1326=) |
single nucleotide variant |
Hyperinsulinism, Dominant/Recessive [RCV000401324]|Permanent neonatal diabetes mellitus [RCV000299357]|Transient Neonatal Diabetes, Dominant [RCV000340284]|not specified [RCV000501079] |
Chr11:17397206 [GRCh38]
Chr11:17418753 [GRCh37]
Chr11:11p15.1 |
likely benign |
| NM_001287174.2(ABCC8):c.2996G>C (p.Arg999Pro) |
single nucleotide variant |
Hyperinsulinism, Dominant/Recessive [RCV000358929]|Permanent neonatal diabetes mellitus [RCV000299409]|Transient Neonatal Diabetes, Dominant [RCV000398699]|not provided [RCV000710051] |
Chr11:17407057 [GRCh38]
Chr11:17428604 [GRCh37]
Chr11:11p15.1 |
uncertain significance |
| NM_001287174.2(ABCC8):c.3992-10C>T |
single nucleotide variant |
Hyperinsulinism, Dominant/Recessive [RCV000397452]|Permanent neonatal diabetes mellitus [RCV000334553]|Transient Neonatal Diabetes, Dominant [RCV000279547] |
Chr11:17397056 [GRCh38]
Chr11:17418603 [GRCh37]
Chr11:11p15.1 |
likely benign |
| NM_001287174.2(ABCC8):c.105G>A (p.Pro35=) |
single nucleotide variant |
Hyperinsulinism, Dominant/Recessive [RCV000394438]|Permanent neonatal diabetes mellitus [RCV000356645]|Transient Neonatal Diabetes, Dominant [RCV000299216] |
Chr11:17476672 [GRCh38]
Chr11:17498219 [GRCh37]
Chr11:11p15.1 |
uncertain significance |
| NM_001287174.2(ABCC8):c.853C>T (p.Arg285Trp) |
single nucleotide variant |
Hyperinsulinism, Dominant/Recessive [RCV000283129]|Permanent neonatal diabetes mellitus [RCV000375274]|Transient Neonatal Diabetes, Dominant [RCV000318290] |
Chr11:17460646 [GRCh38]
Chr11:17482193 [GRCh37]
Chr11:11p15.1 |
uncertain significance |
| NM_001287174.2(ABCC8):c.1958G>A (p.Arg653Gln) |
single nucleotide variant |
Hyperinsulinism, Dominant/Recessive [RCV000375215]|Permanent neonatal diabetes mellitus [RCV000321571]|Transient Neonatal Diabetes, Dominant [RCV000264134] |
Chr11:17428371 [GRCh38]
Chr11:17449918 [GRCh37]
Chr11:11p15.1 |
likely benign |
| NM_001287174.2(ABCC8):c.2940C>T (p.Ser980=) |
single nucleotide variant |
Hyperinsulinism, Dominant/Recessive [RCV000264215]|Permanent neonatal diabetes mellitus [RCV000323996]|Transient Neonatal Diabetes, Dominant [RCV000359855] |
Chr11:17407113 [GRCh38]
Chr11:17428660 [GRCh37]
Chr11:11p15.1 |
uncertain significance |
| NM_001287174.2(ABCC8):c.2697+15G>A |
single nucleotide variant |
Hyperinsulinism, Dominant/Recessive [RCV000324985]|Permanent neonatal diabetes mellitus [RCV000384255]|Transient Neonatal Diabetes, Dominant [RCV000269894] |
Chr11:17410501 [GRCh38]
Chr11:17432048 [GRCh37]
Chr11:11p15.1 |
uncertain significance |
| NM_001287174.2(ABCC8):c.1613T>C (p.Ile538Thr) |
single nucleotide variant |
Hyperinsulinism, Dominant/Recessive [RCV000328271]|Permanent neonatal diabetes mellitus [RCV000270818]|Transient Neonatal Diabetes, Dominant [RCV000384996] |
Chr11:17442737 [GRCh38]
Chr11:17464284 [GRCh37]
Chr11:11p15.1 |
uncertain significance |
| NM_001287174.2(ABCC8):c.3979G>A (p.Glu1327Lys) |
single nucleotide variant |
Monogenic diabetes [RCV000664136]|not specified [RCV000339446] |
Chr11:17397205 [GRCh38]
Chr11:17418752 [GRCh37]
Chr11:11p15.1 |
uncertain significance |
| NM_001287174.2(ABCC8):c.279C>A (p.Ile93=) |
single nucleotide variant |
not specified [RCV000376852] |
Chr11:17474897 [GRCh38]
Chr11:17496444 [GRCh37]
Chr11:11p15.1 |
uncertain significance |
| NM_001287174.2(ABCC8):c.3708T>C (p.Ile1236=) |
single nucleotide variant |
Hyperinsulinism, Dominant/Recessive [RCV000282188]|Permanent neonatal diabetes mellitus [RCV000372470]|Transient Neonatal Diabetes, Dominant [RCV000317797] |
Chr11:17398387 [GRCh38]
Chr11:17419934 [GRCh37]
Chr11:11p15.1 |
uncertain significance |
| NM_001287174.2(ABCC8):c.3616G>A (p.Glu1206Lys) |
single nucleotide variant |
not specified [RCV000345680] |
Chr11:17402698 [GRCh38]
Chr11:17424245 [GRCh37]
Chr11:11p15.1 |
uncertain significance |
| NM_001287174.2(ABCC8):c.4311-2A>G |
single nucleotide variant |
not provided [RCV000334836] |
Chr11:17395277 [GRCh38]
Chr11:17416824 [GRCh37]
Chr11:11p15.1 |
pathogenic |
| NM_001287174.2(ABCC8):c.3561-8C>T |
single nucleotide variant |
Hyperinsulinism, Dominant/Recessive [RCV000396524]|Permanent neonatal diabetes mellitus [RCV000308839]|Transient Neonatal Diabetes, Dominant [RCV000344478] |
Chr11:17402761 [GRCh38]
Chr11:17424308 [GRCh37]
Chr11:11p15.1 |
likely benign |
| NM_001287174.2(ABCC8):c.4202-8C>T |
single nucleotide variant |
Hyperinsulinism, Dominant/Recessive [RCV000324311]|Permanent neonatal diabetes mellitus [RCV000358028]|Transient Neonatal Diabetes, Dominant [RCV000266607] |
Chr11:17395726 [GRCh38]
Chr11:17417273 [GRCh37]
Chr11:11p15.1 |
uncertain significance |
| NM_001287174.2(ABCC8):c.3133_3152del (p.Thr1045fs) |
deletion |
Persistent hyperinsulinemic hypoglycemia of infancy [RCV000673057]|not provided [RCV000393635] |
Chr11:17406901..17406920 [GRCh38]
Chr11:17428448..17428467 [GRCh37]
Chr11:11p15.1 |
pathogenic|likely pathogenic |
| NM_001287174.2(ABCC8):c.824G>A (p.Arg275Gln) |
single nucleotide variant |
Diabetes mellitus type 2 [RCV000490279]|Persistent hyperinsulinemic hypoglycemia of infancy [RCV000671927]|not specified [RCV000369588] |
Chr11:17460675 [GRCh38]
Chr11:17482222 [GRCh37]
Chr11:11p15.1 |
likely benign|uncertain significance |
| NM_001287174.2(ABCC8):c.4201+18C>T |
single nucleotide variant |
not specified [RCV000516803] |
Chr11:17395834 [GRCh38]
Chr11:17417381 [GRCh37]
Chr11:11p15.1 |
likely benign |
| NM_001287174.2(ABCC8):c.1605C>T (p.Ala535=) |
single nucleotide variant |
Hyperinsulinism, Dominant/Recessive [RCV000293105]|Permanent neonatal diabetes mellitus [RCV000387749]|Transient Neonatal Diabetes, Dominant [RCV000330959] |
Chr11:17442745 [GRCh38]
Chr11:17464292 [GRCh37]
Chr11:11p15.1 |
uncertain significance |
| NM_001287174.2(ABCC8):c.*93T>A |
single nucleotide variant |
Hyperinsulinism, Dominant/Recessive [RCV000342531]|Permanent neonatal diabetes mellitus [RCV000395092]|Transient Neonatal Diabetes, Dominant [RCV000283985] |
Chr11:17392898 [GRCh38]
Chr11:17414445 [GRCh37]
Chr11:11p15.1 |
uncertain significance |
| NM_000352.4(ABCC8):c.-113G>A |
single nucleotide variant |
Hyperinsulinism, Dominant/Recessive [RCV000403962]|Permanent neonatal diabetes mellitus [RCV000351032]|Transient Neonatal Diabetes, Dominant [RCV000296202] |
Chr11:17476889 [GRCh38]
Chr11:17498436 [GRCh37]
Chr11:11p15.1 |
uncertain significance |
| NM_000525.3(KCNJ11):c.108G>A (p.Val36=) |
single nucleotide variant |
Hyperinsulinism, Dominant/Recessive [RCV000335585]|Maturity onset diabetes mellitus in young [RCV000272386]|Maturity-onset diabetes of the young [RCV000272386]|Permanent neonatal diabetes mellitus [RCV000380410]|Transient Neonatal Diabetes, Dominant [RCV000285274]|not specified [RCV000194046] |
Chr11:17387984 [GRCh38]
Chr11:17409531 [GRCh37]
Chr11:11p15.1 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_001287174.2(ABCC8):c.1630+10C>T |
single nucleotide variant |
not specified [RCV000517811] |
Chr11:17442710 [GRCh38]
Chr11:17464257 [GRCh37]
Chr11:11p15.1 |
uncertain significance |
| NM_001287174.2(ABCC8):c.3561-6C>G |
single nucleotide variant |
Hyperinsulinism, Dominant/Recessive [RCV000396521]|Permanent neonatal diabetes mellitus [RCV000343153]|Transient Neonatal Diabetes, Dominant [RCV000308353] |
Chr11:17402759 [GRCh38]
Chr11:17424306 [GRCh37]
Chr11:11p15.1 |
uncertain significance |
| NM_001287174.2(ABCC8):c.*118A>G |
single nucleotide variant |
Hyperinsulinism, Dominant/Recessive [RCV000264451]|Permanent neonatal diabetes mellitus [RCV000324321]|Transient Neonatal Diabetes, Dominant [RCV000373169] |
Chr11:17392873 [GRCh38]
Chr11:17414420 [GRCh37]
Chr11:11p15.1 |
likely benign |
| NM_001287174.2(ABCC8):c.2259-9C>T |
single nucleotide variant |
Hyperinsulinism, Dominant/Recessive [RCV000376418]|Permanent neonatal diabetes mellitus [RCV000340459]|Transient Neonatal Diabetes, Dominant [RCV000286566] |
Chr11:17415348 [GRCh38]
Chr11:17436895 [GRCh37]
Chr11:11p15.1 |
uncertain significance |
| NM_000525.3(KCNJ11):c.-498T>C |
single nucleotide variant |
Hyperinsulinism, Dominant/Recessive [RCV000270522]|Maturity onset diabetes mellitus in young [RCV000310444]|Maturity-onset diabetes of the young [RCV000310444]|Permanent neonatal diabetes mellitus [RCV000404230]|Transient Neonatal Diabetes, Dominant [RCV000307819] |
Chr11:17388589 [GRCh38]
Chr11:17410136 [GRCh37]
Chr11:11p15.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000525.3(KCNJ11):c.-559G>C |
single nucleotide variant |
Hyperinsulinism, Dominant/Recessive [RCV000309064]|Maturity onset diabetes mellitus in young [RCV000315800]|Maturity-onset diabetes of the young [RCV000315800]|Permanent neonatal diabetes mellitus [RCV000272551]|Transient Neonatal Diabetes, Dominant [RCV000285187] |
Chr11:17388650 [GRCh38]
Chr11:17410197 [GRCh37]
Chr11:11p15.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000525.3(KCNJ11):c.67A>G (p.Lys23Glu) |
single nucleotide variant |
Diabetes mellitus type 2 [RCV000009214]|Exercise stress response, impaired, association with [RCV000009215]|Hyperinsulinism, Dominant/Recessive [RCV000294608]|Islet cell hyperplasia [RCV000576501]|Maturity onset diabetes mellitus in young [RCV000385348]|Maturity-onset diabetes of the young [RCV000385348]|Permanent neonatal diabetes mellitus [RCV000020356]|Transient Neonatal Diabetes, Dominant [RCV000281825]|glibenclamide response - Efficacy [RCV000786524]|gliclazide response - Efficacy [RCV000786525]|glimepiride response - Efficacy [RCV000786526]|glipizide response - Efficacy [RCV000786527]|gliquidone response - Efficacy [RCV000786528]|not specified [RCV000146116]|sulfonamides, urea derivatives response - Efficacy [RCV000786529] |
Chr11:17388025 [GRCh38]
Chr11:17409572 [GRCh37]
Chr11:11p15.1 |
risk factor|benign|likely benign|conflicting interpretations of pathogenicity|drug response |
| NM_001287174.2(ABCC8):c.4310+13A>C |
single nucleotide variant |
Hyperinsulinism, Dominant/Recessive [RCV000312178]|Permanent neonatal diabetes mellitus [RCV000394780]|Transient Neonatal Diabetes, Dominant [RCV000355301] |
Chr11:17395597 [GRCh38]
Chr11:17417144 [GRCh37]
Chr11:11p15.1 |
uncertain significance |
| NM_001287174.2(ABCC8):c.2117-10C>A |
single nucleotide variant |
Hyperinsulinism, Dominant/Recessive [RCV000396924]|Permanent neonatal diabetes mellitus [RCV000347644]|Transient Neonatal Diabetes, Dominant [RCV000312668] |
Chr11:17427164 [GRCh38]
Chr11:17448711 [GRCh37]
Chr11:11p15.1 |
uncertain significance |
| NM_000525.3(KCNJ11):c.-154G>T |
single nucleotide variant |
Hyperinsulinism, Dominant/Recessive [RCV000351890]|Maturity onset diabetes mellitus in young [RCV000297419]|Maturity-onset diabetes of the young [RCV000297419]|Permanent neonatal diabetes mellitus [RCV000311097]|Transient Neonatal Diabetes, Dominant [RCV000335735] |
Chr11:17388245 [GRCh38]
Chr11:17409792 [GRCh37]
Chr11:11p15.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001287174.2(ABCC8):c.3561-7G>A |
single nucleotide variant |
not specified [RCV000518667] |
Chr11:17402760 [GRCh38]
Chr11:17424307 [GRCh37]
Chr11:11p15.1 |
uncertain significance |
| NM_001287174.2(ABCC8):c.3003C>T (p.Cys1001=) |
single nucleotide variant |
not specified [RCV000518732] |
Chr11:17407050 [GRCh38]
Chr11:17428597 [GRCh37]
Chr11:11p15.1 |
benign |
| NM_001287174.2(ABCC8):c.1924-10C>T |
single nucleotide variant |
not specified [RCV000516634] |
Chr11:17428415 [GRCh38]
Chr11:17449962 [GRCh37]
Chr11:11p15.1 |
uncertain significance |
| NM_001287174.2(ABCC8):c.1177-56G>A |
single nucleotide variant |
not specified [RCV000516695] |
Chr11:17448727 [GRCh38]
Chr11:17470274 [GRCh37]
Chr11:11p15.1 |
uncertain significance |
| NM_001287174.2(ABCC8):c.403C>G (p.Leu135Val) |
single nucleotide variant |
Persistent hyperinsulinemic hypoglycemia of infancy [RCV000671911]|not specified [RCV000517385] |
Chr11:17470110 [GRCh38]
Chr11:17491657 [GRCh37]
Chr11:11p15.1 |
uncertain significance |
| NM_001287174.2(ABCC8):c.794G>A (p.Arg265Gln) |
single nucleotide variant |
not specified [RCV000523759] |
Chr11:17461611 [GRCh38]
Chr11:17483158 [GRCh37]
Chr11:11p15.1 |
uncertain significance |
| NM_001287174.2(ABCC8):c.1603_1604insA (p.Ala535fs) |
insertion |
Persistent hyperinsulinemic hypoglycemia of infancy [RCV000409385] |
Chr11:17442746..17442747 [GRCh38]
Chr11:17464293..17464294 [GRCh37]
Chr11:11p15.1 |
likely pathogenic |
| NM_001287174.2(ABCC8):c.4075_4076delinsT (p.Lys1359fs) |
indel |
Persistent hyperinsulinemic hypoglycemia of infancy [RCV000409392] |
Chr11:17396962..17396963 [GRCh38]
Chr11:17418509..17418510 [GRCh37]
Chr11:11p15.1 |
likely pathogenic |
| NM_001287174.2(ABCC8):c.4477del (p.Ala1493fs) |
deletion |
Persistent hyperinsulinemic hypoglycemia of infancy [RCV000409758] |
Chr11:17394337 [GRCh38]
Chr11:17415884 [GRCh37]
Chr11:11p15.1 |
likely pathogenic |
| NM_001287174.2(ABCC8):c.4356G>A (p.Trp1452Ter) |
single nucleotide variant |
Persistent hyperinsulinemic hypoglycemia of infancy [RCV000409836] |
Chr11:17395230 [GRCh38]
Chr11:17416777 [GRCh37]
Chr11:11p15.1 |
likely pathogenic |
| NM_001287174.2(ABCC8):c.2698-1G>C |
single nucleotide variant |
Familial hyperinsulinism [RCV000588002]|Persistent hyperinsulinemic hypoglycemia of infancy [RCV000409858] |
Chr11:17408518 [GRCh38]
Chr11:17430065 [GRCh37]
Chr11:11p15.1 |
pathogenic|likely pathogenic |
| NM_001287174.2(ABCC8):c.1879del (p.His627fs) |
deletion |
Persistent hyperinsulinemic hypoglycemia of infancy [RCV000409962] |
Chr11:17428609 [GRCh38]
Chr11:17450156 [GRCh37]
Chr11:11p15.1 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_001287174.2(ABCC8):c.2686dup (p.His896fs) |
duplication |
Persistent hyperinsulinemic hypoglycemia of infancy [RCV000410254] |
Chr11:17410527 [GRCh38]
Chr11:17432074 [GRCh37]
Chr11:11p15.1 |
likely pathogenic |
| NM_001287174.2(ABCC8):c.3751C>T (p.Arg1251Ter) |
single nucleotide variant |
Familial hyperinsulinism [RCV000779675]|Persistent hyperinsulinemic hypoglycemia of infancy [RCV000410347] |
Chr11:17398344 [GRCh38]
Chr11:17419891 [GRCh37]
Chr11:11p15.1 |
pathogenic |
| NM_001287174.2(ABCC8):c.413-2A>G |
single nucleotide variant |
Persistent hyperinsulinemic hypoglycemia of infancy [RCV000410546] |
Chr11:17463606 [GRCh38]
Chr11:17485153 [GRCh37]
Chr11:11p15.1 |
likely pathogenic |
| NM_001287174.2(ABCC8):c.584dup (p.Tyr195Ter) |
duplication |
Persistent hyperinsulinemic hypoglycemia of infancy [RCV000410704] |
Chr11:17461821 [GRCh38]
Chr11:17483368 [GRCh37]
Chr11:11p15.1 |
pathogenic |
| NM_001287174.2(ABCC8):c.2542G>A (p.Ala848Thr) |
single nucleotide variant |
not provided [RCV000730397] |
Chr11:17412683 [GRCh38]
Chr11:17434230 [GRCh37]
Chr11:11p15.1 |
uncertain significance |
| NM_001287174.2(ABCC8):c.3577del (p.Asp1193fs) |
deletion |
Familial hyperinsulinism [RCV000589995]|Persistent hyperinsulinemic hypoglycemia of infancy [RCV000410895] |
Chr11:17402737 [GRCh38]
Chr11:17424284 [GRCh37]
Chr11:11p15.1 |
pathogenic|likely pathogenic |
| NM_001287174.2(ABCC8):c.692G>A (p.Trp231Ter) |
single nucleotide variant |
Persistent hyperinsulinemic hypoglycemia of infancy [RCV000410965] |
Chr11:17461713 [GRCh38]
Chr11:17483260 [GRCh37]
Chr11:11p15.1 |
likely pathogenic |
| NM_001287174.2(ABCC8):c.1468-2A>C |
single nucleotide variant |
Persistent hyperinsulinemic hypoglycemia of infancy [RCV000411098] |
Chr11:17442884 [GRCh38]
Chr11:17464431 [GRCh37]
Chr11:11p15.1 |
likely pathogenic |
| NM_001287174.2(ABCC8):c.4024C>T (p.Gln1342Ter) |
single nucleotide variant |
Persistent hyperinsulinemic hypoglycemia of infancy [RCV000411306] |
Chr11:17397014 [GRCh38]
Chr11:17418561 [GRCh37]
Chr11:11p15.1 |
likely pathogenic |
| NM_001287174.2(ABCC8):c.3653+2T>A |
single nucleotide variant |
Persistent hyperinsulinemic hypoglycemia of infancy [RCV000411391] |
Chr11:17402659 [GRCh38]
Chr11:17424206 [GRCh37]
Chr11:11p15.1 |
likely pathogenic |
| NM_001287174.2(ABCC8):c.3111G>A (p.Trp1037Ter) |
single nucleotide variant |
Persistent hyperinsulinemic hypoglycemia of infancy [RCV000411424] |
Chr11:17406942 [GRCh38]
Chr11:17428489 [GRCh37]
Chr11:11p15.1 |
likely pathogenic |
| NM_001287174.2(ABCC8):c.3528C>G (p.Tyr1176Ter) |
single nucleotide variant |
Persistent hyperinsulinemic hypoglycemia of infancy [RCV000411703] |
Chr11:17404544 [GRCh38]
Chr11:17426091 [GRCh37]
Chr11:11p15.1 |
likely pathogenic |
| NM_001287174.2(ABCC8):c.2098_2099del (p.Thr700fs) |
deletion |
Persistent hyperinsulinemic hypoglycemia of infancy [RCV000411725] |
Chr11:17427884..17427885 [GRCh38]
Chr11:17449431..17449432 [GRCh37]
Chr11:11p15.1 |
likely pathogenic |
| NM_001287174.2(ABCC8):c.795dup (p.Leu266fs) |
duplication |
Persistent hyperinsulinemic hypoglycemia of infancy [RCV000411743] |
Chr11:17461610 [GRCh38]
Chr11:17483157 [GRCh37]
Chr11:11p15.1 |
likely pathogenic |
| NM_001287174.2(ABCC8):c.1874C>T (p.Ala625Val) |
single nucleotide variant |
not provided [RCV000732728] |
Chr11:17428614 [GRCh38]
Chr11:17450161 [GRCh37]
Chr11:11p15.1 |
uncertain significance |
| NM_001287174.2(ABCC8):c.2258+2T>C |
single nucleotide variant |
Persistent hyperinsulinemic hypoglycemia of infancy [RCV000411947] |
Chr11:17416928 [GRCh38]
Chr11:17438475 [GRCh37]
Chr11:11p15.1 |
likely pathogenic |
| NM_001287174.2(ABCC8):c.4122+1del |
deletion |
Persistent hyperinsulinemic hypoglycemia of infancy [RCV000412039] |
Chr11:17396915 [GRCh38]
Chr11:17418462 [GRCh37]
Chr11:11p15.1 |
likely pathogenic |
| NM_001287174.2(ABCC8):c.4123-1G>T |
single nucleotide variant |
Persistent hyperinsulinemic hypoglycemia of infancy [RCV000412164] |
Chr11:17395931 [GRCh38]
Chr11:17417478 [GRCh37]
Chr11:11p15.1 |
likely pathogenic |
| NM_001287174.2(ABCC8):c.415del (p.Leu139fs) |
deletion |
Persistent hyperinsulinemic hypoglycemia of infancy [RCV000412208] |
Chr11:17463602 [GRCh38]
Chr11:17485149 [GRCh37]
Chr11:11p15.1 |
likely pathogenic |
| NM_001287174.2(ABCC8):c.1671+1G>C |
single nucleotide variant |
Persistent hyperinsulinemic hypoglycemia of infancy [RCV000412268] |
Chr11:17432203 [GRCh38]
Chr11:17453750 [GRCh37]
Chr11:11p15.1 |
likely pathogenic |
| NM_001287174.2(ABCC8):c.1467+2T>C |
single nucleotide variant |
Persistent hyperinsulinemic hypoglycemia of infancy [RCV000412284] |
Chr11:17443176 [GRCh38]
Chr11:17464723 [GRCh37]
Chr11:11p15.1 |
likely pathogenic |
| NM_001287174.2(ABCC8):c.220C>T (p.Arg74Trp) |
single nucleotide variant |
Persistent hyperinsulinemic hypoglycemia of infancy [RCV000409175] |
Chr11:17474956 [GRCh38]
Chr11:17496503 [GRCh37]
Chr11:11p15.1 |
likely pathogenic |
| NM_001287174.2(ABCC8):c.3403-1G>A |
single nucleotide variant |
Persistent hyperinsulinemic hypoglycemia of infancy [RCV000409731] |
Chr11:17404670 [GRCh38]
Chr11:17426217 [GRCh37]
Chr11:11p15.1 |
likely pathogenic |
| NM_001287174.2(ABCC8):c.2559+1G>A |
single nucleotide variant |
Persistent hyperinsulinemic hypoglycemia of infancy [RCV000410235] |
Chr11:17412665 [GRCh38]
Chr11:17434212 [GRCh37]
Chr11:11p15.1 |
likely pathogenic |
| NM_001287174.2(ABCC8):c.1630+1G>T |
single nucleotide variant |
Persistent hyperinsulinemic hypoglycemia of infancy [RCV000411351]|not provided [RCV000816954] |
Chr11:17442719 [GRCh38]
Chr11:17464266 [GRCh37]
Chr11:11p15.1 |
pathogenic |
| NM_001287174.2(ABCC8):c.4481G>A (p.Arg1494Gln) |
single nucleotide variant |
Persistent hyperinsulinemic hypoglycemia of infancy [RCV000411593] |
Chr11:17394333 [GRCh38]
Chr11:17415880 [GRCh37]
Chr11:11p15.1 |
likely pathogenic |
| GRCh37/hg19 11p15.1(chr11:16820813-18103432)x3 |
copy number gain |
See cases [RCV000449180] |
Chr11:16820813..18103432 [GRCh37]
Chr11:11p15.1 |
uncertain significance |
| NM_001287174.2(ABCC8):c.1270G>A (p.Asp424Asn) |
single nucleotide variant |
not specified [RCV000417468] |
Chr11:17448578 [GRCh38]
Chr11:17470125 [GRCh37]
Chr11:11p15.1 |
uncertain significance |
| NM_001287174.2(ABCC8):c.1067A>G (p.Tyr356Cys) |
single nucleotide variant |
Monogenic diabetes [RCV000445377]|not provided [RCV000710369] |
Chr11:17453228 [GRCh38]
Chr11:17474775 [GRCh37]
Chr11:11p15.1 |
uncertain significance |
| NM_001287174.2(ABCC8):c.375C>G (p.His125Gln) |
single nucleotide variant |
Monogenic diabetes [RCV000445428]|not provided [RCV000710382] |
Chr11:17470138 [GRCh38]
Chr11:17491685 [GRCh37]
Chr11:11p15.1 |
uncertain significance |
| NM_001287174.2(ABCC8):c.3296G>A (p.Arg1099His) |
single nucleotide variant |
not specified [RCV000431777] |
Chr11:17406658 [GRCh38]
Chr11:17428205 [GRCh37]
Chr11:11p15.1 |
uncertain significance |
| NM_001287174.2(ABCC8):c.3878A>G (p.Asn1293Ser) |
single nucleotide variant |
Monogenic diabetes [RCV000445502] |
Chr11:17397306 [GRCh38]
Chr11:17418853 [GRCh37]
Chr11:11p15.1 |
uncertain significance |
| NM_001287174.2(ABCC8):c.793C>T (p.Arg265Trp) |
single nucleotide variant |
not specified [RCV000423097] |
Chr11:17461612 [GRCh38]
Chr11:17483159 [GRCh37]
Chr11:11p15.1 |
uncertain significance |
| NM_001287174.2(ABCC8):c.2176G>A (p.Ala726Thr) |
single nucleotide variant |
Permanent neonatal diabetes mellitus [RCV000763719]|not specified [RCV000501008] |
Chr11:17427095 [GRCh38]
Chr11:17448642 [GRCh37]
Chr11:11p15.1 |
uncertain significance |
| NM_001287174.2(ABCC8):c.4591C>T (p.Arg1531Cys) |
single nucleotide variant |
not specified [RCV000503292] |
Chr11:17393717 [GRCh38]
Chr11:17415264 [GRCh37]
Chr11:11p15.1 |
uncertain significance |
| NM_001287174.2(ABCC8):c.4435G>A (p.Gly1479Arg) |
single nucleotide variant |
Permanent neonatal diabetes mellitus [RCV000763232]|Persistent hyperinsulinemic hypoglycemia of infancy [RCV000503504]|not provided [RCV000710389] |
Chr11:17394379 [GRCh38]
Chr11:17415926 [GRCh37]
Chr11:11p15.1 |
pathogenic|likely pathogenic |
| NM_001287174.2(ABCC8):c.1254_1284dup (p.Met429Ter) |
duplication |
Persistent hyperinsulinemic hypoglycemia of infancy [RCV000503807] |
Chr11:17448564..17448594 [GRCh38]
Chr11:17470111..17470141 [GRCh37]
Chr11:11p15.1 |
pathogenic |
| NM_000352.4(ABCC8):c.-215G>C |
single nucleotide variant |
not specified [RCV000501476] |
Chr11:17476991 [GRCh38]
Chr11:17498538 [GRCh37]
Chr11:11p15.1 |
uncertain significance |
| NM_001287174.2(ABCC8):c.4379T>G (p.Leu1460Arg) |
single nucleotide variant |
Persistent hyperinsulinemic hypoglycemia of infancy [RCV000503846] |
Chr11:17395207 [GRCh38]
Chr11:17416754 [GRCh37]
Chr11:11p15.1 |
pathogenic|conflicting interpretations of pathogenicity |
| NM_000352.4(ABCC8):c.-385G>A |
single nucleotide variant |
not specified [RCV000503797] |
Chr11:17477161 [GRCh38]
Chr11:17498708 [GRCh37]
Chr11:11p15.1 |
uncertain significance |
| NM_001287174.2(ABCC8):c.4453G>A (p.Gly1485Arg) |
single nucleotide variant |
Persistent hyperinsulinemic hypoglycemia of infancy [RCV000501743] |
Chr11:17394361 [GRCh38]
Chr11:17415908 [GRCh37]
Chr11:11p15.1 |
pathogenic |
| NM_001287174.2(ABCC8):c.2995C>T (p.Arg999Ter) |
single nucleotide variant |
Monogenic diabetes [RCV000664138]|Persistent hyperinsulinemic hypoglycemia of infancy [RCV000499389]|not provided [RCV000517672] |
Chr11:17407058 [GRCh38]
Chr11:17428605 [GRCh37]
Chr11:11p15.1 |
pathogenic|uncertain significance |
| NM_001287174.2(ABCC8):c.4112C>T (p.Pro1371Leu) |
single nucleotide variant |
Persistent hyperinsulinemic hypoglycemia of infancy [RCV000504191] |
Chr11:17396926 [GRCh38]
Chr11:17418473 [GRCh37]
Chr11:11p15.1 |
likely pathogenic |
| NM_001287174.2(ABCC8):c.2298_2310delinsAA (p.Arg767fs) |
indel |
Persistent hyperinsulinemic hypoglycemia of infancy [RCV000499629] |
Chr11:17414595..17414607 [GRCh38]
Chr11:17436142..17436154 [GRCh37]
Chr11:11p15.1 |
pathogenic |
| NM_001287174.2(ABCC8):c.2861A>C (p.Gln954Pro) |
single nucleotide variant |
not specified [RCV000504385] |
Chr11:17407416 [GRCh38]
Chr11:17428963 [GRCh37]
Chr11:11p15.1 |
uncertain significance |
| NM_000352.4(ABCC8):c.-215_-214del |
deletion |
not specified [RCV000499701] |
Chr11:17476990..17476991 [GRCh38]
Chr11:17498537..17498538 [GRCh37]
Chr11:11p15.1 |
uncertain significance |
| NM_000352.4(ABCC8):c.-544G>A |
single nucleotide variant |
not specified [RCV000499749] |
Chr11:17477320 [GRCh38]
Chr11:17498867 [GRCh37]
Chr11:11p15.1 |
uncertain significance |
| NM_001287174.2(ABCC8):c.1486C>T (p.Leu496=) |
single nucleotide variant |
not specified [RCV000504507] |
Chr11:17442864 [GRCh38]
Chr11:17464411 [GRCh37]
Chr11:11p15.1 |
likely benign |
| NM_001287174.2(ABCC8):c.4527G>A (p.Thr1509=) |
single nucleotide variant |
not specified [RCV000504463] |
Chr11:17394287 [GRCh38]
Chr11:17415834 [GRCh37]
Chr11:11p15.1 |
likely benign |
| NM_001287174.2(ABCC8):c.1752del (p.His584fs) |
deletion |
Persistent hyperinsulinemic hypoglycemia of infancy [RCV000502297] |
Chr11:17430879 [GRCh38]
Chr11:17452426 [GRCh37]
Chr11:11p15.1 |
pathogenic |
| NM_001287174.2(ABCC8):c.2924-9G>A |
single nucleotide variant |
Persistent hyperinsulinemic hypoglycemia of infancy [RCV000502550] |
Chr11:17407138 [GRCh38]
Chr11:17428685 [GRCh37]
Chr11:11p15.1 |
likely pathogenic |
| NM_001287174.2(ABCC8):c.1792C>T (p.Arg598Ter) |
single nucleotide variant |
Persistent hyperinsulinemic hypoglycemia of infancy [RCV000500331] |
Chr11:17430839 [GRCh38]
Chr11:17452386 [GRCh37]
Chr11:11p15.1 |
pathogenic |
| NM_001287174.2(ABCC8):c.1687G>A (p.Val563Ile) |
single nucleotide variant |
not specified [RCV000502764] |
Chr11:17430944 [GRCh38]
Chr11:17452491 [GRCh37]
Chr11:11p15.1 |
uncertain significance |
| NM_001287174.2(ABCC8):c.3596C>T (p.Pro1199Leu) |
single nucleotide variant |
Permanent neonatal diabetes mellitus [RCV000500160] |
Chr11:17402718 [GRCh38]
Chr11:17424265 [GRCh37]
Chr11:11p15.1 |
pathogenic |
| NM_001287174.2(ABCC8):c.4268C>G (p.Ser1423Cys) |
single nucleotide variant |
Permanent neonatal diabetes mellitus [RCV000501443] |
Chr11:17395652 [GRCh38]
Chr11:17417199 [GRCh37]
Chr11:11p15.1 |
likely pathogenic |
| NM_001287174.2(ABCC8):c.2143G>A (p.Val715Met) |
single nucleotide variant |
Persistent hyperinsulinemic hypoglycemia of infancy [RCV000500528]|not specified [RCV000518807] |
Chr11:17427128 [GRCh38]
Chr11:17448675 [GRCh37]
Chr11:11p15.1 |
likely pathogenic|uncertain significance |
| NM_001287174.2(ABCC8):c.4454G>T (p.Gly1485Val) |
single nucleotide variant |
Persistent hyperinsulinemic hypoglycemia of infancy [RCV000502822] |
Chr11:17394360 [GRCh38]
Chr11:17415907 [GRCh37]
Chr11:11p15.1 |
likely pathogenic |
| NM_001287174.2(ABCC8):c.4566G>T (p.Lys1522Asn) |
single nucleotide variant |
not provided [RCV000514132]|not specified [RCV000500617] |
Chr11:17393742 [GRCh38]
Chr11:17415289 [GRCh37]
Chr11:11p15.1 |
uncertain significance |
| GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3 |
copy number gain |
See cases [RCV000511561] |
Chr11:230615..37698540 [GRCh37]
Chr11:11p15.5-12 |
pathogenic |
| GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) |
copy number gain |
See cases [RCV000511729] |
Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25 |
pathogenic |
| GRCh37/hg19 11p15.1(chr11:17142196-18014467)x3 |
copy number gain |
See cases [RCV000511047] |
Chr11:17142196..18014467 [GRCh37]
Chr11:11p15.1 |
uncertain significance |
| GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 |
copy number gain |
See cases [RCV000510881] |
Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25 |
pathogenic |
| NM_001287174.2(ABCC8):c.62T>A (p.Val21Asp) |
single nucleotide variant |
Familial hyperinsulinism [RCV000588969]|Persistent hyperinsulinemic hypoglycemia of infancy [RCV000666072] |
Chr11:17476715 [GRCh38]
Chr11:17498262 [GRCh37]
Chr11:11p15.1 |
pathogenic|likely pathogenic |
| NM_001287174.2(ABCC8):c.1024G>T (p.Gly342Trp) |
single nucleotide variant |
Retrognathia [RCV000626668] |
Chr11:17453271 [GRCh38]
Chr11:17474818 [GRCh37]
Chr11:11p15.1 |
likely pathogenic |
| GRCh37/hg19 11p15.5-14.3(chr11:230615-25584362)x3 |
copy number gain |
See cases [RCV000512225] |
Chr11:230615..25584362 [GRCh37]
Chr11:11p15.5-14.3 |
pathogenic |
| NM_001287174.2(ABCC8):c.221G>A (p.Arg74Gln) |
single nucleotide variant |
Familial hyperinsulinism [RCV000586584]|Permanent neonatal diabetes mellitus [RCV000763236]|not provided [RCV000710375] |
Chr11:17474955 [GRCh38]
Chr11:17496502 [GRCh37]
Chr11:11p15.1 |
pathogenic |
| GRCh37/hg19 11p15.5-13(chr11:230615-31995219)x3 |
copy number gain |
See cases [RCV000512477] |
Chr11:230615..31995219 [GRCh37]
Chr11:11p15.5-13 |
pathogenic |
| NM_001287174.2(ABCC8):c.1793G>A (p.Arg598Gln) |
single nucleotide variant |
Atrial septal defect [RCV000626669] |
Chr11:17430838 [GRCh38]
Chr11:17452385 [GRCh37]
Chr11:11p15.1 |
likely pathogenic |
| NM_001287174.2(ABCC8):c.1220T>A (p.Leu407Gln) |
single nucleotide variant |
not provided [RCV000710371] |
Chr11:17448628 [GRCh38]
Chr11:17470175 [GRCh37]
Chr11:11p15.1 |
uncertain significance |
| NM_001287174.2(ABCC8):c.3110G>A (p.Trp1037Ter) |
single nucleotide variant |
not provided [RCV000710378] |
Chr11:17406943 [GRCh38]
Chr11:17428490 [GRCh37]
Chr11:11p15.1 |
pathogenic |
| NM_001287174.2(ABCC8):c.4011G>C (p.Lys1337Asn) |
single nucleotide variant |
Persistent hyperinsulinemic hypoglycemia of infancy [RCV000666053] |
Chr11:17397027 [GRCh38]
Chr11:17418574 [GRCh37]
Chr11:11p15.1 |
uncertain significance |
| NM_001287174.2(ABCC8):c.4449C>A (p.Ser1483Arg) |
single nucleotide variant |
Persistent hyperinsulinemic hypoglycemia of infancy [RCV000666196] |
Chr11:17394365 [GRCh38]
Chr11:17415912 [GRCh37]
Chr11:11p15.1 |
uncertain significance |
| NM_001287174.2(ABCC8):c.2116+1G>A |
single nucleotide variant |
Persistent hyperinsulinemic hypoglycemia of infancy [RCV000666201] |
Chr11:17427866 [GRCh38]
Chr11:17449413 [GRCh37]
Chr11:11p15.1 |
likely pathogenic |
| NM_001287174.2(ABCC8):c.1012-2A>G |
single nucleotide variant |
Persistent hyperinsulinemic hypoglycemia of infancy [RCV000666551] |
Chr11:17453285 [GRCh38]
Chr11:17474832 [GRCh37]
Chr11:11p15.1 |
likely pathogenic |
| NM_001287174.2(ABCC8):c.3908C>T (p.Ala1303Val) |
single nucleotide variant |
Persistent hyperinsulinemic hypoglycemia of infancy [RCV000666594] |
Chr11:17397276 [GRCh38]
Chr11:17418823 [GRCh37]
Chr11:11p15.1 |
uncertain significance |
| NM_001287174.2(ABCC8):c.4415-13G>A |
single nucleotide variant |
Persistent hyperinsulinemic hypoglycemia of infancy [RCV000667182] |
Chr11:17394412 [GRCh38]
Chr11:17415959 [GRCh37]
Chr11:11p15.1 |
likely pathogenic |
| NM_001287174.2(ABCC8):c.290+2T>C |
single nucleotide variant |
Permanent neonatal diabetes mellitus [RCV000763235]|Persistent hyperinsulinemic hypoglycemia of infancy [RCV000667474] |
Chr11:17474884 [GRCh38]
Chr11:17496431 [GRCh37]
Chr11:11p15.1 |
likely pathogenic |
| NM_001287174.2(ABCC8):c.4256G>A (p.Arg1419His) |
single nucleotide variant |
Persistent hyperinsulinemic hypoglycemia of infancy [RCV000667823] |
Chr11:17395664 [GRCh38]
Chr11:17417211 [GRCh37]
Chr11:11p15.1 |
likely pathogenic |
| NM_001287174.2(ABCC8):c.3871-1G>A |
single nucleotide variant |
Persistent hyperinsulinemic hypoglycemia of infancy [RCV000667948] |
Chr11:17397314 [GRCh38]
Chr11:17418861 [GRCh37]
Chr11:11p15.1 |
pathogenic |
| NM_001287174.2(ABCC8):c.1970G>A (p.Arg657Gln) |
single nucleotide variant |
Persistent hyperinsulinemic hypoglycemia of infancy [RCV000668087] |
Chr11:17428359 [GRCh38]
Chr11:17449906 [GRCh37]
Chr11:11p15.1 |
uncertain significance |
| NM_001287174.2(ABCC8):c.2222+1G>T |
single nucleotide variant |
Familial hyperinsulinism [RCV000780810]|Persistent hyperinsulinemic hypoglycemia of infancy [RCV000668105]|not provided [RCV000710376] |
Chr11:17427048 [GRCh38]
Chr11:17448595 [GRCh37]
Chr11:11p15.1 |
pathogenic|likely pathogenic |
| NM_001287174.2(ABCC8):c.3992-3C>G |
single nucleotide variant |
Persistent hyperinsulinemic hypoglycemia of infancy [RCV000668524] |
Chr11:17397049 [GRCh38]
Chr11:17418596 [GRCh37]
Chr11:11p15.1 |
uncertain significance |
| NM_000352.4(ABCC8):c.4117_4119del (p.Lys1373del) |
deletion |
Persistent hyperinsulinemic hypoglycemia of infancy [RCV000668891] |
Chr11:17396916..17396918 [GRCh38]
Chr11:17418462..17418465 [GRCh37]
Chr11:11p15.1 |
uncertain significance |
| NM_001287174.2(ABCC8):c.1576C>T (p.Arg526Cys) |
single nucleotide variant |
Persistent hyperinsulinemic hypoglycemia of infancy [RCV000669267] |
Chr11:17442774 [GRCh38]
Chr11:17464321 [GRCh37]
Chr11:11p15.1 |
likely pathogenic |
| NM_001287174.2(ABCC8):c.3762_3770dup (p.Ile1255_Ala1257dup) |
duplication |
Persistent hyperinsulinemic hypoglycemia of infancy [RCV000669347] |
Chr11:17397784..17397792 [GRCh38]
Chr11:17419330 [GRCh37]
Chr11:11p15.1 |
uncertain significance |
| NM_001287174.2(ABCC8):c.2180T>G (p.Leu727Arg) |
single nucleotide variant |
Persistent hyperinsulinemic hypoglycemia of infancy [RCV000669371] |
Chr11:17427091 [GRCh38]
Chr11:17448638 [GRCh37]
Chr11:11p15.1 |
uncertain significance |
| NM_001287174.2(ABCC8):c.823-1G>A |
single nucleotide variant |
Persistent hyperinsulinemic hypoglycemia of infancy [RCV000669420] |
Chr11:17460677 [GRCh38]
Chr11:17482224 [GRCh37]
Chr11:11p15.1 |
likely pathogenic |
| NM_001287174.2(ABCC8):c.1817+2_1817+6del |
microsatellite |
Persistent hyperinsulinemic hypoglycemia of infancy [RCV000670304] |
Chr11:17430808..17430812 [GRCh38]
Chr11:17452354..17452359 [GRCh37]
Chr11:11p15.1 |
likely pathogenic |
| NM_001287174.2(ABCC8):c.2222+1G>A |
single nucleotide variant |
Persistent hyperinsulinemic hypoglycemia of infancy [RCV000670459] |
Chr11:17427048 [GRCh38]
Chr11:17448595 [GRCh37]
Chr11:11p15.1 |
likely pathogenic |
| NM_001287174.2(ABCC8):c.1484G>A (p.Arg495Gln) |
single nucleotide variant |
Persistent hyperinsulinemic hypoglycemia of infancy [RCV000670691] |
Chr11:17442866 [GRCh38]
Chr11:17464413 [GRCh37]
Chr11:11p15.1 |
uncertain significance |
| NM_001287174.2(ABCC8):c.2041-25G>A |
single nucleotide variant |
Persistent hyperinsulinemic hypoglycemia of infancy [RCV000672137] |
Chr11:17427967 [GRCh38]
Chr11:17449514 [GRCh37]
Chr11:11p15.1 |
uncertain significance |
| NM_001287174.2(ABCC8):c.4029_4030insC (p.Lys1344fs) |
insertion |
Persistent hyperinsulinemic hypoglycemia of infancy [RCV000673172] |
Chr11:17397008..17397009 [GRCh38]
Chr11:17418555 [GRCh37]
Chr11:11p15.1 |
likely pathogenic |
| NM_001287174.2(ABCC8):c.4099G>A (p.Ala1367Thr) |
single nucleotide variant |
Persistent hyperinsulinemic hypoglycemia of infancy [RCV000673493] |
Chr11:17396939 [GRCh38]
Chr11:17418486 [GRCh37]
Chr11:11p15.1 |
uncertain significance |
| NM_001287174.2(ABCC8):c.126_146dup (p.Thr43_Ile49dup) |
duplication |
Persistent hyperinsulinemic hypoglycemia of infancy [RCV000673824] |
Chr11:17476631..17476651 [GRCh38]
Chr11:17498177 [GRCh37]
Chr11:11p15.1 |
uncertain significance |
| NM_001287174.2(ABCC8):c.1501G>A (p.Glu501Lys) |
single nucleotide variant |
Persistent hyperinsulinemic hypoglycemia of infancy [RCV000674549] |
Chr11:17442849 [GRCh38]
Chr11:17464396 [GRCh37]
Chr11:11p15.1 |
likely pathogenic |
| NM_001287174.2(ABCC8):c.4278_4294del (p.Asp1428fs) |
deletion |
Persistent hyperinsulinemic hypoglycemia of infancy [RCV000664896] |
Chr11:17395626..17395642 [GRCh38]
Chr11:17417172..17417189 [GRCh37]
Chr11:11p15.1 |
likely pathogenic |
|
Gene-Chemical Interaction Annotations