NM_175914.5(HNF4A):c.724del (p.Val242fs) |
deletion |
Maturity onset diabetes mellitus in young [RCV002376954]|not provided [RCV000517835] |
Chr20:44419772 [GRCh38] Chr20:43048412 [GRCh37] Chr20:20q13.12 |
pathogenic |
NM_175914.5(HNF4A):c.968del (p.Gln323fs) |
deletion |
not provided [RCV000518071] |
Chr20:44424159 [GRCh38] Chr20:43052799 [GRCh37] Chr20:20q13.12 |
pathogenic |
NM_175914.5(HNF4A):c.670+7C>T |
single nucleotide variant |
not specified [RCV000518627] |
Chr20:44418519 [GRCh38] Chr20:43047159 [GRCh37] Chr20:20q13.12 |
likely benign |
NM_175914.5(HNF4A):c.868C>T (p.Arg290Cys) |
single nucleotide variant |
not provided [RCV000516515] |
Chr20:44424059 [GRCh38] Chr20:43052699 [GRCh37] Chr20:20q13.12 |
likely pathogenic|conflicting interpretations of pathogenicity |
NM_175914.5(HNF4A):c.745G>T (p.Glu249Ter) |
single nucleotide variant |
not provided [RCV000518730] |
Chr20:44419795 [GRCh38] Chr20:43048435 [GRCh37] Chr20:20q13.12 |
pathogenic |
NM_175914.5(HNF4A):c.403C>T (p.Gln135Ter) |
single nucleotide variant |
not provided [RCV000520909] |
Chr20:44413777 [GRCh38] Chr20:43042417 [GRCh37] Chr20:20q13.12 |
pathogenic |
NM_175914.5(HNF4A):c.590T>C (p.Leu197Pro) |
single nucleotide variant |
not specified [RCV000517726] |
Chr20:44418432 [GRCh38] Chr20:43047072 [GRCh37] Chr20:20q13.12 |
uncertain significance |
NM_175914.5(HNF4A):c.464G>A (p.Arg155Gln) |
single nucleotide variant |
Maturity-onset diabetes of the young type 1 [RCV002497011]|not provided [RCV000522216] |
Chr20:44414544 [GRCh38] Chr20:43043184 [GRCh37] Chr20:20q13.12 |
uncertain significance |
NM_175914.5(HNF4A):c.692G>A (p.Arg231Gln) |
single nucleotide variant |
not provided [RCV000516891] |
Chr20:44419742 [GRCh38] Chr20:43048382 [GRCh37] Chr20:20q13.12 |
likely pathogenic |
NM_175914.5(HNF4A):c.232C>T (p.Arg78Trp) |
single nucleotide variant |
Maturity-onset diabetes of the young type 1 [RCV002481674]|not provided [RCV001755765]|not specified [RCV000517196] |
Chr20:44407388 [GRCh38] Chr20:43036028 [GRCh37] Chr20:20q13.12 |
uncertain significance |
NM_175914.5(HNF4A):c.1032T>A (p.Ile344=) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002395235]|Maturity-onset diabetes of the young type 1 [RCV002490883]|not provided [RCV001565494]|not specified [RCV000516333] |
Chr20:44424223 [GRCh38] Chr20:43052863 [GRCh37] Chr20:20q13.12 |
benign|likely benign |
NM_175914.5(HNF4A):c.427-4G>A |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002226713]|Type 2 diabetes mellitus [RCV001258240]|not provided [RCV000901336]|not specified [RCV000518191] |
Chr20:44414503 [GRCh38] Chr20:43043143 [GRCh37] Chr20:20q13.12 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_175914.5(HNF4A):c.763C>T (p.Gln255Ter) |
single nucleotide variant |
Maturity-onset diabetes of the young type 1 [RCV000009790]|not provided [RCV001659688] |
Chr20:44419813 [GRCh38] Chr20:43048453 [GRCh37] Chr20:20q13.12 |
pathogenic |
NM_175914.5(HNF4A):c.421C>T (p.Arg141Ter) |
single nucleotide variant |
Maturity-onset diabetes of the young type 1 [RCV000009791]|not provided [RCV000516683] |
Chr20:44413795 [GRCh38] Chr20:43042435 [GRCh37] Chr20:20q13.12 |
pathogenic |
NM_175914.5(HNF4A):c.340C>T (p.Arg114Trp) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002453254]|Maturity-onset diabetes of the young type 1 [RCV000009792]|Maturity-onset diabetes of the young type 1 [RCV001536085]|not provided [RCV000711955]|not specified [RCV001375546] |
Chr20:44413714 [GRCh38] Chr20:43042354 [GRCh37] Chr20:20q13.12 |
pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_175914.5(HNF4A):c.1138G>A (p.Val380Ile) |
single nucleotide variant |
Maturity-onset diabetes of the young type 1 [RCV002482848]|Type 2 diabetes mellitus [RCV000009793]|not provided [RCV000481825] |
Chr20:44428409 [GRCh38] Chr20:43057049 [GRCh37] Chr20:20q13.12 |
pathogenic|uncertain significance |
NM_175914.5(HNF4A):c.1052T>G (p.Met351Arg) |
single nucleotide variant |
Maturity-onset diabetes of the young type 1 [RCV000009796] |
Chr20:44424243 [GRCh38] Chr20:43052883 [GRCh37] Chr20:20q13.12 |
pathogenic |
NM_175914.5(HNF4A):c.1097C>G (p.Pro366Arg) |
single nucleotide variant |
Maturity-onset diabetes of the young type 1 [RCV000030012]|not specified [RCV002247399] |
Chr20:44428368 [GRCh38] Chr20:43057008 [GRCh37] Chr20:20q13.12 |
likely pathogenic|uncertain significance |
NM_175914.5(HNF4A):c.1137C>T (p.Asn379=) |
single nucleotide variant |
Familial hyperinsulinism [RCV001139382]|Maturity onset diabetes mellitus in young [RCV002321491]|Maturity-onset diabetes of the young type 1 [RCV000030013]|Maturity-onset diabetes of the young type 1 [RCV002496457]|not provided [RCV000954523]|not specified [RCV000243741] |
Chr20:44428408 [GRCh38] Chr20:43057048 [GRCh37] Chr20:20q13.12 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_175914.5(HNF4A):c.1187G>C (p.Cys396Ser) |
single nucleotide variant |
Maturity-onset diabetes of the young type 1 [RCV000030014] |
Chr20:44428458 [GRCh38] Chr20:43057098 [GRCh37] Chr20:20q13.12 |
likely pathogenic |
NM_175914.5(HNF4A):c.1321A>G (p.Ile441Val) |
single nucleotide variant |
Autosomal dominant polycystic liver disease [RCV001844803]|Familial hyperinsulinism [RCV001142000]|Maturity-onset diabetes of the young type 1 [RCV000030015]|Maturity-onset diabetes of the young type 1 [RCV000764241]|not provided [RCV000725499]|not specified [RCV001358754] |
Chr20:44429627 [GRCh38] Chr20:43058267 [GRCh37] Chr20:20q13.12 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_175914.5(HNF4A):c.*4G>A |
single nucleotide variant |
Maturity-onset diabetes of the young type 1 [RCV000030016]|not provided [RCV002472940] |
Chr20:44429669 [GRCh38] Chr20:43058309 [GRCh37] Chr20:20q13.12 |
uncertain significance |
NM_175914.5(HNF4A):c.84G>A (p.Ala28=) |
single nucleotide variant |
Familial hyperinsulinism [RCV000326102]|Maturity onset diabetes mellitus in young [RCV002444446]|Maturity-onset diabetes of the young type 1 [RCV000030017]|not provided [RCV000934114]|not specified [RCV000246272] |
Chr20:44406092 [GRCh38] Chr20:43034732 [GRCh37] Chr20:20q13.12 |
benign|likely benign|uncertain significance |
NM_175914.5(HNF4A):c.281_282delinsC (p.Arg94fs) |
indel |
Maturity-onset diabetes of the young type 1 [RCV000030018]|not provided [RCV000992162] |
Chr20:44407437..44407438 [GRCh38] Chr20:43036077..43036078 [GRCh37] Chr20:20q13.12 |
pathogenic|likely pathogenic |
NM_175914.5(HNF4A):c.361A>G (p.Ser121Gly) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV001248909]|Maturity-onset diabetes of the young type 1 [RCV002496458]|not provided [RCV000484752]|not specified [RCV000030019] |
Chr20:44413735 [GRCh38] Chr20:43042375 [GRCh37] Chr20:20q13.12 |
likely pathogenic|uncertain significance |
NM_175914.5(HNF4A):c.381G>A (p.Leu127=) |
single nucleotide variant |
Familial hyperinsulinism [RCV001139277]|Maturity-onset diabetes of the young type 1 [RCV000030020]|not provided [RCV000886268]|not specified [RCV001818188] |
Chr20:44413755 [GRCh38] Chr20:43042395 [GRCh37] Chr20:20q13.12 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_175914.5(HNF4A):c.393T>C (p.Asn131=) |
single nucleotide variant |
Familial hyperinsulinism [RCV000401137]|Maturity onset diabetes mellitus in young [RCV002371790]|Maturity-onset diabetes of the young type 1 [RCV000030021]|Type 2 diabetes mellitus [RCV002226657]|not provided [RCV000880936]|not specified [RCV000248180] |
Chr20:44413767 [GRCh38] Chr20:43042407 [GRCh37] Chr20:20q13.12 |
benign|likely benign|uncertain significance |
NM_175914.5(HNF4A):c.426+6G>A |
single nucleotide variant |
Familial hyperinsulinism [RCV001141895]|Maturity-onset diabetes of the young type 1 [RCV000030022]|not provided [RCV000711958]|not specified [RCV000428253] |
Chr20:44413806 [GRCh38] Chr20:43042446 [GRCh37] Chr20:20q13.12 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_175914.5(HNF4A):c.439G>A (p.Val147Ile) |
single nucleotide variant |
Familial hyperinsulinism [RCV000340715]|Maturity onset diabetes mellitus in young [RCV002326694]|Maturity-onset diabetes of the young type 1 [RCV000030023]|Type 2 diabetes mellitus [RCV000490471]|not provided [RCV000117239]|not specified [RCV000516787] |
Chr20:44414519 [GRCh38] Chr20:43043159 [GRCh37] Chr20:20q13.12 |
likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
NM_175914.5(HNF4A):c.553G>C (p.Ala185Pro) |
single nucleotide variant |
Maturity-onset diabetes of the young type 1 [RCV000030024] |
Chr20:44414633 [GRCh38] Chr20:43043273 [GRCh37] Chr20:20q13.12 |
likely pathogenic |
NM_175914.5(HNF4A):c.575_582+10del |
deletion |
Maturity-onset diabetes of the young type 1 [RCV000030025] |
Chr20:44414652..44414669 [GRCh38] Chr20:43043292..43043309 [GRCh37] Chr20:20q13.12 |
likely pathogenic |
NM_175914.5(HNF4A):c.660_662delinsTCAA (p.Leu221fs) |
indel |
Maturity-onset diabetes of the young type 1 [RCV000030026] |
Chr20:44418502..44418504 [GRCh38] Chr20:43047142..43047144 [GRCh37] Chr20:20q13.12 |
likely pathogenic |
NM_175914.5(HNF4A):c.669A>G (p.Leu223=) |
single nucleotide variant |
Familial hyperinsulinism [RCV001137144]|Maturity onset diabetes mellitus in young [RCV002362599]|Maturity-onset diabetes of the young type 1 [RCV000030027]|Maturity-onset diabetes of the young type 1 [RCV002490415]|not provided [RCV000961698]|not specified [RCV000192677] |
Chr20:44418511 [GRCh38] Chr20:43047151 [GRCh37] Chr20:20q13.12 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
NM_175914.5(HNF4A):c.696C>T (p.His232=) |
single nucleotide variant |
Familial hyperinsulinism [RCV001137145]|Maturity onset diabetes mellitus in young [RCV002362600]|Maturity-onset diabetes of the young type 1 [RCV000030028]|not provided [RCV000883569]|not specified [RCV001818189] |
Chr20:44419746 [GRCh38] Chr20:43048386 [GRCh37] Chr20:20q13.12 |
benign|likely benign |
NM_175914.5(HNF4A):c.744C>T (p.Asp248=) |
single nucleotide variant |
Familial hyperinsulinism [RCV001137148]|Maturity onset diabetes mellitus in young [RCV002381269]|Maturity-onset diabetes of the young type 1 [RCV000030029]|Maturity-onset diabetes of the young type 1 [RCV002477024]|not provided [RCV000965473]|not specified [RCV000254264] |
Chr20:44419794 [GRCh38] Chr20:43048434 [GRCh37] Chr20:20q13.12 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_175914.5(HNF4A):c.768G>C (p.Glu256Asp) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV001248910]|Maturity-onset diabetes of the young type 1 [RCV000030030]|not provided [RCV001659732]|not specified [RCV001420861] |
Chr20:44419818 [GRCh38] Chr20:43048458 [GRCh37] Chr20:20q13.12 |
likely pathogenic|uncertain significance |
NM_175914.5(HNF4A):c.826+30dup |
duplication |
Maturity-onset diabetes of the young type 1 [RCV000030031] |
Chr20:44419905..44419906 [GRCh38] Chr20:43048545..43048546 [GRCh37] Chr20:20q13.12 |
uncertain significance |
NM_175914.5(HNF4A):c.840G>A (p.Leu280=) |
single nucleotide variant |
Maturity-onset diabetes of the young type 1 [RCV000030032] |
Chr20:44424031 [GRCh38] Chr20:43052671 [GRCh37] Chr20:20q13.12 |
likely benign |
NM_175914.5(HNF4A):c.924G>T (p.Ser308=) |
single nucleotide variant |
Maturity-onset diabetes of the young type 1 [RCV000030033]|not provided [RCV002054494] |
Chr20:44424115 [GRCh38] Chr20:43052755 [GRCh37] Chr20:20q13.12 |
benign|likely benign |
NM_175914.5(HNF4A):c.925C>T (p.Arg309Cys) |
single nucleotide variant |
Hyperinsulinemia [RCV000193933]|Maturity onset diabetes mellitus in young [RCV001249093]|Maturity-onset diabetes of the young type 1 [RCV000030034]|not provided [RCV000517103] |
Chr20:44424116 [GRCh38] Chr20:43052756 [GRCh37] Chr20:20q13.12 |
pathogenic|likely pathogenic|uncertain significance |
NM_175914.5(HNF4A):c.931C>T (p.Arg311Cys) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002509171]|not provided [RCV000766932]|not specified [RCV000497992] |
Chr20:44424122 [GRCh38] Chr20:43052762 [GRCh37] Chr20:20q13.12 |
pathogenic|likely pathogenic|uncertain significance |
HNF4A, 1-BP DEL, PHE75T |
deletion |
Maturity-onset diabetes of the young type 1 [RCV000009794] |
Chr20:20q12-q13.1 |
pathogenic |
NM_175914.5(HNF4A):c.583-2del |
deletion |
Maturity-onset diabetes of the young type 1 [RCV000009795] |
Chr20:44418423 [GRCh38] Chr20:43047063 [GRCh37] Chr20:20q13.12 |
pathogenic |
HNF4A deletion |
deletion |
Maturity-onset diabetes of the young type 1 [RCV000030036] |
Chr20:20q13.12 |
likely pathogenic |
NM_000457.4(HNF4A):c.1149C>T (p.Pro383=) |
single nucleotide variant |
Malignant melanoma [RCV000072644] |
Chr20:44428354 [GRCh38] Chr20:43056994 [GRCh37] Chr20:42490408 [NCBI36] Chr20:20q13.12 |
not provided |
NM_175914.5(HNF4A):c.778G>T (p.Asp260Tyr) |
single nucleotide variant |
Monogenic diabetes [RCV000664160] |
Chr20:44419828 [GRCh38] Chr20:43048468 [GRCh37] Chr20:20q13.12 |
uncertain significance |
NM_175914.5(HNF4A):c.454G>A (p.Gly152Ser) |
single nucleotide variant |
Monogenic diabetes [RCV000664159] |
Chr20:44414534 [GRCh38] Chr20:43043174 [GRCh37] Chr20:20q13.12 |
uncertain significance |
NM_175914.5(HNF4A):c.1267C>T (p.Pro423Ser) |
single nucleotide variant |
Maturity-onset diabetes of the young type 1 [RCV002483195]|not provided [RCV000117235] |
Chr20:44429573 [GRCh38] Chr20:43058213 [GRCh37] Chr20:20q13.12 |
uncertain significance |
NM_175914.5(HNF4A):c.135C>T (p.Ala45=) |
single nucleotide variant |
Familial hyperinsulinism [RCV000329726]|Maturity onset diabetes mellitus in young [RCV002381428]|Maturity-onset diabetes of the young type 1 [RCV000272263]|not provided [RCV000710148]|not specified [RCV000117236] |
Chr20:44406143 [GRCh38] Chr20:43034783 [GRCh37] Chr20:20q13.12 |
benign|likely benign |
NM_175914.5(HNF4A):c.50-5C>T |
single nucleotide variant |
Glycosuria [RCV002226672]|Hyperinsulinism, Dominant [RCV000268875]|Maturity onset diabetes mellitus in young [RCV000361090]|not provided [RCV000710147]|not specified [RCV000117237] |
Chr20:44406053 [GRCh38] Chr20:43034693 [GRCh37] Chr20:20q13.12 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_175914.5(HNF4A):c.350C>T (p.Thr117Ile) |
single nucleotide variant |
Familial hyperinsulinism [RCV000280314]|Maturity onset diabetes mellitus in young [RCV002453432]|Maturity-onset diabetes of the young type 1 [RCV000337755]|Monogenic diabetes [RCV000445529]|Type 2 diabetes mellitus [RCV002226673]|not provided [RCV001521057]|not specified [RCV000117238] |
Chr20:44413724 [GRCh38] Chr20:43042364 [GRCh37] Chr20:20q13.12 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_175914.5(HNF4A):c.187C>T (p.Arg63Trp) |
single nucleotide variant |
Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young [RCV000144170]|Hyperinsulinemia [RCV000193614]|Maturity onset diabetes mellitus in young [RCV002408643]|Maturity-onset diabetes of the young type 1 [RCV000763446]|Maturity-onset diabetes of the young type 1 [RCV000850560]|not provided [RCV000255966] |
Chr20:44406195 [GRCh38] Chr20:43034835 [GRCh37] Chr20:20q13.12 |
pathogenic |
NM_175914.5(HNF4A):c.1194G>T (p.Trp398Cys) |
single nucleotide variant |
not provided [RCV002224805] |
Chr20:44428465 [GRCh38] Chr20:43057105 [GRCh37] Chr20:20q13.12 |
uncertain significance |
GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3 |
copy number gain |
See cases [RCV000135859] |
Chr20:99557..64277321 [GRCh38] Chr20:80198..62908674 [GRCh37] Chr20:28198..62379118 [NCBI36] Chr20:20p13-q13.33 |
pathogenic |
GRCh38/hg38 20q11.22-13.12(chr20:35237946-47631818)x1 |
copy number loss |
See cases [RCV000140816] |
Chr20:35237946..47631818 [GRCh38] Chr20:33825749..46260562 [GRCh37] Chr20:33289165..45693969 [NCBI36] Chr20:20q11.22-13.12 |
pathogenic |
NM_175914.5(HNF4A):c.514C>T (p.Gln172Ter) |
single nucleotide variant |
not provided [RCV000579276] |
Chr20:44414594 [GRCh38] Chr20:43043234 [GRCh37] Chr20:20q13.12 |
pathogenic |
NM_175914.5(HNF4A):c.1243C>T (p.Pro415Ser) |
single nucleotide variant |
Familial hyperinsulinism [RCV000332137]|Maturity onset diabetes mellitus in young [RCV002227088]|Maturity-onset diabetes of the young type 1 [RCV000370494]|not provided [RCV000925459]|not specified [RCV000192779] |
Chr20:44429549 [GRCh38] Chr20:43058189 [GRCh37] Chr20:20q13.12 |
benign|likely benign|uncertain significance |
NM_175914.5(HNF4A):c.427-5C>T |
single nucleotide variant |
Familial hyperinsulinism [RCV001141896]|Maturity-onset diabetes of the young type 1 [RCV001141897]|not provided [RCV002056990]|not specified [RCV000194836] |
Chr20:44414502 [GRCh38] Chr20:43043142 [GRCh37] Chr20:20q13.12 |
likely benign|uncertain significance |
NM_175914.5(HNF4A):c.582+1G>A |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002352258]|Maturity-onset diabetes of the young type 1 [RCV000754818] |
Chr20:44414663 [GRCh38] Chr20:43043303 [GRCh37] Chr20:20q13.12 |
pathogenic|likely pathogenic |
NM_175914.5(HNF4A):c.763C>G (p.Gln255Glu) |
single nucleotide variant |
Maturity-onset diabetes of the young type 1 [RCV000504596] |
Chr20:44419813 [GRCh38] Chr20:43048453 [GRCh37] Chr20:20q13.12 |
uncertain significance |
NM_175914.5(HNF4A):c.670+18C>A |
single nucleotide variant |
not specified [RCV000249285] |
Chr20:44418530 [GRCh38] Chr20:43047170 [GRCh37] Chr20:20q13.12 |
likely benign |
NM_175914.5(HNF4A):c.319+19C>T |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002321937]|not provided [RCV002058454]|not specified [RCV000252049] |
Chr20:44407494 [GRCh38] Chr20:43036134 [GRCh37] Chr20:20q13.12 |
benign |
NM_175914.5(HNF4A):c.427-20C>T |
single nucleotide variant |
Maturity-onset diabetes of the young type 1 [RCV002506254]|not provided [RCV001796090]|not specified [RCV000517635] |
Chr20:44414487 [GRCh38] Chr20:43043127 [GRCh37] Chr20:20q13.12 |
benign|likely benign |
NM_175914.5(HNF4A):c.*2703dup |
duplication |
Hyperinsulinism, Dominant [RCV000280835]|Maturity onset diabetes mellitus in young [RCV000265449] |
Chr20:44432344..44432345 [GRCh38] Chr20:43060984..43060985 [GRCh37] Chr20:20q13.12 |
uncertain significance |
NM_175914.5(HNF4A):c.*1832G>A |
single nucleotide variant |
Familial hyperinsulinism [RCV000287827]|Maturity onset diabetes mellitus in young [RCV002465625]|Maturity-onset diabetes of the young type 1 [RCV000382149]|not provided [RCV001778929] |
Chr20:44431497 [GRCh38] Chr20:43060137 [GRCh37] Chr20:20q13.12 |
benign|likely benign |
NM_175914.5(HNF4A):c.*906A>C |
single nucleotide variant |
Familial hyperinsulinism [RCV000270968]|Maturity onset diabetes mellitus in young [RCV002465624]|Maturity-onset diabetes of the young type 1 [RCV000365535]|not provided [RCV001672592] |
Chr20:44430571 [GRCh38] Chr20:43059211 [GRCh37] Chr20:20q13.12 |
benign|likely benign |
NM_175914.5(HNF4A):c.*167T>A |
single nucleotide variant |
Familial hyperinsulinism [RCV000399364]|Maturity-onset diabetes of the young type 1 [RCV000288947]|not provided [RCV001590988]|not specified [RCV000732365] |
Chr20:44429832 [GRCh38] Chr20:43058472 [GRCh37] Chr20:20q13.12 |
benign|likely benign |
NM_175914.5(HNF4A):c.*392T>G |
single nucleotide variant |
Familial hyperinsulinism [RCV000327583]|Maturity-onset diabetes of the young type 1 [RCV000272478]|not provided [RCV001613108] |
Chr20:44430057 [GRCh38] Chr20:43058697 [GRCh37] Chr20:20q13.12 |
benign|likely benign |
NM_175914.5(HNF4A):c.*1089del |
deletion |
Hyperinsulinism, Dominant [RCV000293595]|Maturity onset diabetes mellitus in young [RCV000387905] |
Chr20:44430752 [GRCh38] Chr20:43059392 [GRCh37] Chr20:20q13.12 |
uncertain significance |
NM_175914.5(HNF4A):c.*277T>C |
single nucleotide variant |
Familial hyperinsulinism [RCV000353558]|Maturity-onset diabetes of the young type 1 [RCV000276134] |
Chr20:44429942 [GRCh38] Chr20:43058582 [GRCh37] Chr20:20q13.12 |
benign|likely benign |
NM_175914.5(HNF4A):c.*1C>A |
single nucleotide variant |
Familial hyperinsulinism [RCV000317030]|Maturity-onset diabetes of the young type 1 [RCV000259465]|not provided [RCV002225592] |
Chr20:44429666 [GRCh38] Chr20:43058306 [GRCh37] Chr20:20q13.12 |
likely benign|uncertain significance |
NM_175914.5(HNF4A):c.*572C>A |
single nucleotide variant |
Familial hyperinsulinism [RCV000389996]|Maturity-onset diabetes of the young type 1 [RCV000280538] |
Chr20:44430237 [GRCh38] Chr20:43058877 [GRCh37] Chr20:20q13.12 |
uncertain significance |
NM_175914.5(HNF4A):c.*2182G>A |
single nucleotide variant |
Familial hyperinsulinism [RCV000299404]|Maturity-onset diabetes of the young type 1 [RCV000400903] |
Chr20:44431847 [GRCh38] Chr20:43060487 [GRCh37] Chr20:20q13.12 |
benign|likely benign|uncertain significance |
NM_175914.5(HNF4A):c.*145T>A |
single nucleotide variant |
Familial hyperinsulinism [RCV000377327]|Maturity-onset diabetes of the young type 1 [RCV000320344]|Maturity-onset diabetes of the young type 1 [RCV002502303] |
Chr20:44429810 [GRCh38] Chr20:43058450 [GRCh37] Chr20:20q13.12 |
uncertain significance |
NM_175914.5(HNF4A):c.*2153T>C |
single nucleotide variant |
Familial hyperinsulinism [RCV000342595]|Maturity-onset diabetes of the young type 1 [RCV000399483] |
Chr20:44431818 [GRCh38] Chr20:43060458 [GRCh37] Chr20:20q13.12 |
uncertain significance |
NM_175914.5(HNF4A):c.1176C>T (p.Asn392=) |
single nucleotide variant |
Familial hyperinsulinism [RCV000270831]|Maturity onset diabetes mellitus in young [RCV002328864]|Maturity-onset diabetes of the young type 1 [RCV000309520]|not provided [RCV000884368] |
Chr20:44428447 [GRCh38] Chr20:43057087 [GRCh37] Chr20:20q13.12 |
benign|likely benign|uncertain significance |
NM_175914.5(HNF4A):c.*906A>T |
single nucleotide variant |
Familial hyperinsulinism [RCV000361574]|Maturity-onset diabetes of the young type 1 [RCV000306835]|not provided [RCV001683349] |
Chr20:44430571 [GRCh38] Chr20:43059211 [GRCh37] Chr20:20q13.12 |
benign|likely benign |
NM_175914.5(HNF4A):c.*1095G>A |
single nucleotide variant |
Familial hyperinsulinism [RCV000344922]|Maturity-onset diabetes of the young type 1 [RCV000308743] |
Chr20:44430760 [GRCh38] Chr20:43059400 [GRCh37] Chr20:20q13.12 |
benign|likely benign|uncertain significance |
NM_175914.5(HNF4A):c.*2193T>C |
single nucleotide variant |
Familial hyperinsulinism [RCV000354252]|Maturity-onset diabetes of the young type 1 [RCV000406957] |
Chr20:44431858 [GRCh38] Chr20:43060498 [GRCh37] Chr20:20q13.12 |
uncertain significance |
NM_175914.5(HNF4A):c.*2533G>A |
single nucleotide variant |
Familial hyperinsulinism [RCV000272066]|Maturity-onset diabetes of the young type 1 [RCV000366676] |
Chr20:44432198 [GRCh38] Chr20:43060838 [GRCh37] Chr20:20q13.12 |
benign|likely benign |
NM_175914.5(HNF4A):c.1216+6C>A |
single nucleotide variant |
Familial hyperinsulinism [RCV000274251]|Maturity-onset diabetes of the young type 1 [RCV000366473] |
Chr20:44428493 [GRCh38] Chr20:43057133 [GRCh37] Chr20:20q13.12 |
uncertain significance |
NM_175914.5(HNF4A):c.*242T>C |
single nucleotide variant |
Familial hyperinsulinism [RCV000368450]|Maturity onset diabetes mellitus in young [RCV002465620]|Maturity-onset diabetes of the young type 1 [RCV000311464]|not provided [RCV001653634] |
Chr20:44429907 [GRCh38] Chr20:43058547 [GRCh37] Chr20:20q13.12 |
benign|likely benign |
NM_175914.5(HNF4A):c.*1783G>T |
single nucleotide variant |
Familial hyperinsulinism [RCV000389356]|Maturity-onset diabetes of the young type 1 [RCV000276200] |
Chr20:44431448 [GRCh38] Chr20:43060088 [GRCh37] Chr20:20q13.12 |
benign|uncertain significance |
NM_175914.5(HNF4A):c.*2374G>C |
single nucleotide variant |
Familial hyperinsulinism [RCV000275486]|Maturity-onset diabetes of the young type 1 [RCV000330547] |
Chr20:44432039 [GRCh38] Chr20:43060679 [GRCh37] Chr20:20q13.12 |
uncertain significance |
NM_175914.5(HNF4A):c.*3153C>A |
single nucleotide variant |
Familial hyperinsulinism [RCV000276652]|Maturity-onset diabetes of the young type 1 [RCV000315396] |
Chr20:44432818 [GRCh38] Chr20:43061458 [GRCh37] Chr20:20q13.12 |
uncertain significance |
NM_175914.5(HNF4A):c.*271C>T |
single nucleotide variant |
Familial hyperinsulinism [RCV000406835]|Maturity-onset diabetes of the young type 1 [RCV000315063] |
Chr20:44429936 [GRCh38] Chr20:43058576 [GRCh37] Chr20:20q13.12 |
uncertain significance |
NM_175914.5(HNF4A):c.*2366G>C |
single nucleotide variant |
Familial hyperinsulinism [RCV000370105]|Maturity-onset diabetes of the young type 1 [RCV000315360] |
Chr20:44432031 [GRCh38] Chr20:43060671 [GRCh37] Chr20:20q13.12 |
benign|likely benign |
NM_175914.5(HNF4A):c.*1078G>A |
single nucleotide variant |
Familial hyperinsulinism [RCV000278245]|Maturity-onset diabetes of the young type 1 [RCV000351884] |
Chr20:44430743 [GRCh38] Chr20:43059383 [GRCh37] Chr20:20q13.12 |
likely benign|uncertain significance |
NM_175914.5(HNF4A):c.*2678dup |
duplication |
Hyperinsulinism, Dominant [RCV000363471]|Maturity onset diabetes mellitus in young [RCV000308831] |
Chr20:44432342..44432343 [GRCh38] Chr20:43060982..43060983 [GRCh37] Chr20:20q13.12 |
uncertain significance |
NM_175914.5(HNF4A):c.*1616G>A |
single nucleotide variant |
Familial hyperinsulinism [RCV000317323]|Maturity-onset diabetes of the young type 1 [RCV000262091] |
Chr20:44431281 [GRCh38] Chr20:43059921 [GRCh37] Chr20:20q13.12 |
uncertain significance |
NM_175914.5(HNF4A):c.*76G>A |
single nucleotide variant |
Familial hyperinsulinism [RCV000281626]|Maturity-onset diabetes of the young type 1 [RCV000373794] |
Chr20:44429741 [GRCh38] Chr20:43058381 [GRCh37] Chr20:20q13.12 |
benign|uncertain significance |
NM_175914.5(HNF4A):c.*521G>A |
single nucleotide variant |
Familial hyperinsulinism [RCV000339008]|Maturity onset diabetes mellitus in young [RCV002465622]|Maturity-onset diabetes of the young type 1 [RCV000283929]|not provided [RCV001778928] |
Chr20:44430186 [GRCh38] Chr20:43058826 [GRCh37] Chr20:20q13.12 |
benign|likely benign|uncertain significance |
NM_175914.5(HNF4A):c.*446G>A |
single nucleotide variant |
Familial hyperinsulinism [RCV000378593]|Maturity-onset diabetes of the young type 1 [RCV000324060] |
Chr20:44430111 [GRCh38] Chr20:43058751 [GRCh37] Chr20:20q13.12 |
benign|uncertain significance |
NM_175914.5(HNF4A):c.*3024C>T |
single nucleotide variant |
Familial hyperinsulinism [RCV000274252]|Maturity-onset diabetes of the young type 1 [RCV000331657] |
Chr20:44432689 [GRCh38] Chr20:43061329 [GRCh37] Chr20:20q13.12 |
uncertain significance |
NM_175914.5(HNF4A):c.*155G>A |
single nucleotide variant |
Familial hyperinsulinism [RCV000285521]|Maturity onset diabetes mellitus in young [RCV002465619]|Maturity-onset diabetes of the young type 1 [RCV000342798]|not provided [RCV001707665] |
Chr20:44429820 [GRCh38] Chr20:43058460 [GRCh37] Chr20:20q13.12 |
benign|likely benign |
NM_175914.5(HNF4A):c.*393G>A |
single nucleotide variant |
Familial hyperinsulinism [RCV000287603]|Maturity-onset diabetes of the young type 1 [RCV000382056] |
Chr20:44430058 [GRCh38] Chr20:43058698 [GRCh37] Chr20:20q13.12 |
benign|likely benign |
NM_175914.5(HNF4A):c.*305A>G |
single nucleotide variant |
Familial hyperinsulinism [RCV000331180]|Maturity onset diabetes mellitus in young [RCV002465621]|Maturity-onset diabetes of the young type 1 [RCV000367128]|not provided [RCV001539542] |
Chr20:44429970 [GRCh38] Chr20:43058610 [GRCh37] Chr20:20q13.12 |
benign|likely benign |
NM_175914.5(HNF4A):c.*3068C>T |
single nucleotide variant |
Familial hyperinsulinism [RCV000383959]|Maturity-onset diabetes of the young type 1 [RCV000291967] |
Chr20:44432733 [GRCh38] Chr20:43061373 [GRCh37] Chr20:20q13.12 |
uncertain significance |
NM_175914.5(HNF4A):c.*1828G>A |
single nucleotide variant |
Familial hyperinsulinism [RCV000291358]|Maturity-onset diabetes of the young type 1 [RCV000346311] |
Chr20:44431493 [GRCh38] Chr20:43060133 [GRCh37] Chr20:20q13.12 |
uncertain significance |
NM_175914.5(HNF4A):c.*700T>C |
single nucleotide variant |
Familial hyperinsulinism [RCV000398865]|Maturity onset diabetes mellitus in young [RCV002465623]|Maturity-onset diabetes of the young type 1 [RCV000335279]|not provided [RCV001636945] |
Chr20:44430365 [GRCh38] Chr20:43059005 [GRCh37] Chr20:20q13.12 |
benign|likely benign |
NM_175914.5(HNF4A):c.*3013A>G |
single nucleotide variant |
Familial hyperinsulinism [RCV000356633]|Maturity-onset diabetes of the young type 1 [RCV000259466] |
Chr20:44432678 [GRCh38] Chr20:43061318 [GRCh37] Chr20:20q13.12 |
uncertain significance |
NM_175914.5(HNF4A):c.224+17dup |
duplication |
Hyperinsulinism, Dominant [RCV000387464]|Maturity onset diabetes mellitus in young [RCV000295478]|not provided [RCV000838670]|not specified [RCV001264430] |
Chr20:44406246..44406247 [GRCh38] Chr20:43034886..43034887 [GRCh37] Chr20:20q13.12 |
benign|likely benign|uncertain significance |
NM_175914.5(HNF4A):c.*3143G>T |
single nucleotide variant |
Familial hyperinsulinism [RCV000354927]|Maturity-onset diabetes of the young type 1 [RCV000297757] |
Chr20:44432808 [GRCh38] Chr20:43061448 [GRCh37] Chr20:20q13.12 |
benign|likely benign |
NM_175914.5(HNF4A):c.*3086C>T |
single nucleotide variant |
Familial hyperinsulinism [RCV000382918]|Maturity-onset diabetes of the young type 1 [RCV000344628]|not provided [RCV002263616] |
Chr20:44432751 [GRCh38] Chr20:43061391 [GRCh37] Chr20:20q13.12 |
benign|uncertain significance |
NM_175914.5(HNF4A):c.*965G>T |
single nucleotide variant |
Familial hyperinsulinism [RCV000267363]|Maturity-onset diabetes of the young type 1 [RCV000322431] |
Chr20:44430630 [GRCh38] Chr20:43059270 [GRCh37] Chr20:20q13.12 |
uncertain significance |
NM_175914.5(HNF4A):c.*977C>G |
single nucleotide variant |
Familial hyperinsulinism [RCV000377018]|Maturity-onset diabetes of the young type 1 [RCV000263752] |
Chr20:44430642 [GRCh38] Chr20:43059282 [GRCh37] Chr20:20q13.12 |
likely benign|uncertain significance |
NM_175914.5(HNF4A):c.50-4753G>A |
single nucleotide variant |
Familial hyperinsulinism [RCV000357807]|Maturity-onset diabetes of the young type 1 [RCV000300699]|not provided [RCV002520013] |
Chr20:44401305 [GRCh38] Chr20:43029945 [GRCh37] Chr20:20q13.12 |
likely benign|uncertain significance |
NM_175914.5(HNF4A):c.*2779A>C |
single nucleotide variant |
Familial hyperinsulinism [RCV000345156]|Maturity-onset diabetes of the young type 1 [RCV000399673] |
Chr20:44432444 [GRCh38] Chr20:43061084 [GRCh37] Chr20:20q13.12 |
uncertain significance |
NM_175914.5(HNF4A):c.*3018G>A |
single nucleotide variant |
Familial hyperinsulinism [RCV000316939]|Maturity-onset diabetes of the young type 1 [RCV000387791] |
Chr20:44432683 [GRCh38] Chr20:43061323 [GRCh37] Chr20:20q13.12 |
benign|uncertain significance |
NM_175914.5(HNF4A):c.50-4700G>A |
single nucleotide variant |
Familial hyperinsulinism [RCV000304160]|Maturity-onset diabetes of the young type 1 [RCV000265360] |
Chr20:44401358 [GRCh38] Chr20:43029998 [GRCh37] Chr20:20q13.12 |
likely benign|uncertain significance |
NM_175914.5(HNF4A):c.*1132C>T |
single nucleotide variant |
Familial hyperinsulinism [RCV000265512]|Maturity-onset diabetes of the young type 1 [RCV000360104]|not provided [RCV001660708] |
Chr20:44430797 [GRCh38] Chr20:43059437 [GRCh37] Chr20:20q13.12 |
benign|likely benign |
NM_175914.5(HNF4A):c.*2992C>T |
single nucleotide variant |
Familial hyperinsulinism [RCV000265154]|Maturity-onset diabetes of the young type 1 [RCV000299208] |
Chr20:44432657 [GRCh38] Chr20:43061297 [GRCh37] Chr20:20q13.12 |
uncertain significance |
NM_175914.5(HNF4A):c.*1291TCCTCCCT[1] |
microsatellite |
Hyperinsulinism, Dominant [RCV000302022]|Maturity onset diabetes mellitus in young [RCV000356823]|not provided [RCV001613109] |
Chr20:44430956..44430963 [GRCh38] Chr20:43059596..43059603 [GRCh37] Chr20:20q13.12 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_175914.5(HNF4A):c.*1087G>C |
single nucleotide variant |
Familial hyperinsulinism [RCV000348252]|Maturity-onset diabetes of the young type 1 [RCV000401692] |
Chr20:44430752 [GRCh38] Chr20:43059392 [GRCh37] Chr20:20q13.12 |
uncertain significance |
NM_175914.5(HNF4A):c.*2676dup |
duplication |
Hyperinsulinism, Dominant [RCV000335237]|Maturity onset diabetes mellitus in young [RCV000280210] |
Chr20:44432340..44432341 [GRCh38] Chr20:43060980..43060981 [GRCh37] Chr20:20q13.12 |
uncertain significance |
NM_175914.5(HNF4A):c.*1106G>A |
single nucleotide variant |
Familial hyperinsulinism [RCV000392322]|Maturity-onset diabetes of the young type 1 [RCV000305498] |
Chr20:44430771 [GRCh38] Chr20:43059411 [GRCh37] Chr20:20q13.12 |
uncertain significance |
NM_175914.5(HNF4A):c.726G>A (p.Val242=) |
single nucleotide variant |
Hyperinsulinism, Dominant [RCV000305735]|Maturity onset diabetes mellitus in young [RCV000362810]|not provided [RCV000924601]|not specified [RCV001821020] |
Chr20:44419776 [GRCh38] Chr20:43048416 [GRCh37] Chr20:20q13.12 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_175914.5(HNF4A):c.321C>T (p.Ala107=) |
single nucleotide variant |
Familial hyperinsulinism [RCV000372305]|Maturity-onset diabetes of the young type 1 [RCV000352627]|Monogenic diabetes [RCV003126676] |
Chr20:44413695 [GRCh38] Chr20:43042335 [GRCh37] Chr20:20q13.12 |
likely benign|uncertain significance |
NM_175914.5(HNF4A):c.*2679del |
deletion |
Hyperinsulinism, Dominant [RCV000268803]|Maturity onset diabetes mellitus in young [RCV000323970] |
Chr20:44432344 [GRCh38] Chr20:43060984 [GRCh37] Chr20:20q13.12 |
uncertain significance |
GRCh37/hg19 20q13.12(chr20:42818852-43180449)x3 |
copy number gain |
not provided [RCV000584982] |
Chr20:42818852..43180449 [GRCh37] Chr20:20q13.12 |
uncertain significance |
NM_175914.5(HNF4A):c.582+42C>T |
single nucleotide variant |
not provided [RCV001574302] |
Chr20:44414704 [GRCh38] Chr20:43043344 [GRCh37] Chr20:20q13.12 |
likely benign |
NM_175914.5(HNF4A):c.787G>C (p.Glu263Gln) |
single nucleotide variant |
Maturity-onset diabetes of the young type 1 [RCV002285538] |
Chr20:44419837 [GRCh38] Chr20:43048477 [GRCh37] Chr20:20q13.12 |
likely pathogenic |
NM_175914.5(HNF4A):c.426+175G>A |
single nucleotide variant |
not provided [RCV001546246] |
Chr20:44413975 [GRCh38] Chr20:43042615 [GRCh37] Chr20:20q13.12 |
likely benign |
NM_175914.5(HNF4A):c.335G>A (p.Arg112Gln) |
single nucleotide variant |
Maturity-onset diabetes of the young type 1 [RCV002285340]|not provided [RCV000489797] |
Chr20:44413709 [GRCh38] Chr20:43042349 [GRCh37] Chr20:20q13.12 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
NM_175914.5(HNF4A):c.498T>A (p.Cys166Ter) |
single nucleotide variant |
Inborn genetic diseases [RCV000623599]|Maturity onset diabetes mellitus in young [RCV002334036] |
Chr20:44414578 [GRCh38] Chr20:43043218 [GRCh37] Chr20:20q13.12 |
pathogenic |
NM_175914.5(HNF4A):c.*765G>A |
single nucleotide variant |
Familial hyperinsulinism [RCV000314111]|Maturity-onset diabetes of the young type 1 [RCV000368847] |
Chr20:44430430 [GRCh38] Chr20:43059070 [GRCh37] Chr20:20q13.12 |
uncertain significance |
NM_175914.5(HNF4A):c.*2167T>G |
single nucleotide variant |
Familial hyperinsulinism [RCV000302930]|Maturity-onset diabetes of the young type 1 [RCV000339208] |
Chr20:44431832 [GRCh38] Chr20:43060472 [GRCh37] Chr20:20q13.12 |
uncertain significance |
NM_175914.5(HNF4A):c.*3120T>C |
single nucleotide variant |
Familial hyperinsulinism [RCV000303861]|Maturity-onset diabetes of the young type 1 [RCV000399440] |
Chr20:44432785 [GRCh38] Chr20:43061425 [GRCh37] Chr20:20q13.12 |
uncertain significance |
NM_175914.5(HNF4A):c.*1821C>T |
single nucleotide variant |
Familial hyperinsulinism [RCV000331239]|Maturity-onset diabetes of the young type 1 [RCV000385730] |
Chr20:44431486 [GRCh38] Chr20:43060126 [GRCh37] Chr20:20q13.12 |
uncertain significance |
NM_175914.5(HNF4A):c.*226C>A |
single nucleotide variant |
Familial hyperinsulinism [RCV000401329]|Maturity-onset diabetes of the young type 1 [RCV000346408] |
Chr20:44429891 [GRCh38] Chr20:43058531 [GRCh37] Chr20:20q13.12 |
uncertain significance |
NM_175914.5(HNF4A):c.*2796AC[1] |
microsatellite |
Hyperinsulinism, Dominant [RCV000305230]|Maturity onset diabetes mellitus in young [RCV000357699] |
Chr20:44432461..44432462 [GRCh38] Chr20:43061101..43061102 [GRCh37] Chr20:20q13.12 |
uncertain significance |
NM_175914.5(HNF4A):c.*2707dup |
duplication |
Hyperinsulinism, Dominant [RCV000293779]|Maturity onset diabetes mellitus in young [RCV000346377] |
Chr20:44432371..44432372 [GRCh38] Chr20:43061011..43061012 [GRCh37] Chr20:20q13.12 |
uncertain significance |
NM_175914.5(HNF4A):c.*2639T>G |
single nucleotide variant |
Familial hyperinsulinism [RCV000283806]|Maturity-onset diabetes of the young type 1 [RCV000378297] |
Chr20:44432304 [GRCh38] Chr20:43060944 [GRCh37] Chr20:20q13.12 |
uncertain significance |
NM_175914.5(HNF4A):c.*2698_*2704del |
deletion |
Hyperinsulinism, Dominant [RCV000371923]|Maturity onset diabetes mellitus in young [RCV000295090] |
Chr20:44432363..44432369 [GRCh38] Chr20:43061003..43061009 [GRCh37] Chr20:20q13.12 |
uncertain significance |
NM_175914.5(HNF4A):c.*2777del |
deletion |
Hyperinsulinism, Dominant [RCV000402368]|Maturity onset diabetes mellitus in young [RCV000306528] |
Chr20:44432440 [GRCh38] Chr20:43061080 [GRCh37] Chr20:20q13.12 |
uncertain significance |
NM_175914.5(HNF4A):c.*987G>T |
single nucleotide variant |
Familial hyperinsulinism [RCV000318807]|Maturity-onset diabetes of the young type 1 [RCV000373512] |
Chr20:44430652 [GRCh38] Chr20:43059292 [GRCh37] Chr20:20q13.12 |
uncertain significance |
NM_175914.5(HNF4A):c.*2677dup |
duplication |
Hyperinsulinism, Dominant [RCV000366968]|Maturity onset diabetes mellitus in young [RCV000408300] |
Chr20:44432341..44432342 [GRCh38] Chr20:43060981..43060982 [GRCh37] Chr20:20q13.12 |
uncertain significance |
NM_175914.5(HNF4A):c.*2703del |
deletion |
Hyperinsulinism, Dominant [RCV000320646]|Maturity onset diabetes mellitus in young [RCV000375235] |
Chr20:44432345 [GRCh38] Chr20:43060985 [GRCh37] Chr20:20q13.12 |
uncertain significance |
NM_175914.5(HNF4A):c.50-4791_50-4788del |
microsatellite |
Hyperinsulinism, Dominant [RCV000391828]|Maturity onset diabetes mellitus in young [RCV000336170] |
Chr20:44401263..44401266 [GRCh38] Chr20:43029903..43029906 [GRCh37] Chr20:20q13.12 |
uncertain significance |
NM_175914.5(HNF4A):c.*3104A>C |
single nucleotide variant |
Familial hyperinsulinism [RCV000342997]|Maturity-onset diabetes of the young type 1 [RCV000285714] |
Chr20:44432769 [GRCh38] Chr20:43061409 [GRCh37] Chr20:20q13.12 |
uncertain significance |
NM_175914.5(HNF4A):c.*3142del |
deletion |
Hyperinsulinism, Dominant [RCV000337648]|Maturity onset diabetes mellitus in young [RCV000401413] |
Chr20:44432804 [GRCh38] Chr20:43061444 [GRCh37] Chr20:20q13.12 |
likely benign |
NM_175914.5(HNF4A):c.*2707del |
deletion |
Hyperinsulinism, Dominant [RCV000393199]|Maturity onset diabetes mellitus in young [RCV000352294] |
Chr20:44432372 [GRCh38] Chr20:43061012 [GRCh37] Chr20:20q13.12 |
uncertain significance |
NM_175914.5(HNF4A):c.*2674_*2675del |
deletion |
Hyperinsulinism, Dominant [RCV000395129]|Maturity onset diabetes mellitus in young [RCV000338731] |
Chr20:44432338..44432339 [GRCh38] Chr20:43060978..43060979 [GRCh37] Chr20:20q13.12 |
uncertain significance |
NM_175914.5(HNF4A):c.624C>T (p.Leu208=) |
single nucleotide variant |
Familial hyperinsulinism [RCV001143700]|Maturity onset diabetes mellitus in young [RCV002368064]|Maturity-onset diabetes of the young type 1 [RCV001137143]|not provided [RCV000894472]|not specified [RCV000603592] |
Chr20:44418466 [GRCh38] Chr20:43047106 [GRCh37] Chr20:20q13.12 |
benign|likely benign|uncertain significance |
NM_175914.5(HNF4A):c.*2600T>C |
single nucleotide variant |
Hyperinsulinism, Dominant [RCV000287423]|Maturity onset diabetes mellitus in young [RCV000323682] |
Chr20:44432265 [GRCh38] Chr20:43060905 [GRCh37] Chr20:20q13.12 |
uncertain significance |
NM_175914.5(HNF4A):c.*782G>A |
single nucleotide variant |
Familial hyperinsulinism [RCV000310769]|Maturity-onset diabetes of the young type 1 [RCV000391969] |
Chr20:44430447 [GRCh38] Chr20:43059087 [GRCh37] Chr20:20q13.12 |
uncertain significance |
NM_175914.5(HNF4A):c.*2677_*2683del |
deletion |
Hyperinsulinism, Dominant [RCV000312287]|Maturity onset diabetes mellitus in young [RCV000398614] |
Chr20:44432341..44432347 [GRCh38] Chr20:43060981..43060987 [GRCh37] Chr20:20q13.12 |
uncertain significance |
NM_175914.5(HNF4A):c.*2558T>C |
single nucleotide variant |
Familial hyperinsulinism [RCV000381804]|Maturity-onset diabetes of the young type 1 [RCV000327149] |
Chr20:44432223 [GRCh38] Chr20:43060863 [GRCh37] Chr20:20q13.12 |
uncertain significance |
NM_175914.5(HNF4A):c.826+79C>T |
single nucleotide variant |
not specified [RCV000517003] |
Chr20:44419955 [GRCh38] Chr20:43048595 [GRCh37] Chr20:20q13.12 |
uncertain significance |
NM_175914.5(HNF4A):c.481A>G (p.Ser161Gly) |
single nucleotide variant |
Familial hyperinsulinism [RCV001141898]|Maturity-onset diabetes of the young type 1 [RCV001143693]|not provided [RCV000585597] |
Chr20:44414561 [GRCh38] Chr20:43043201 [GRCh37] Chr20:20q13.12 |
uncertain significance |
NM_175914.5(HNF4A):c.188G>A (p.Arg63Gln) |
single nucleotide variant |
not provided [RCV000414001] |
Chr20:44406196 [GRCh38] Chr20:43034836 [GRCh37] Chr20:20q13.12 |
likely pathogenic |
NM_175914.5(HNF4A):c.640T>A (p.Ser214Thr) |
single nucleotide variant |
Maturity-onset diabetes of the young type 1 [RCV000449632] |
Chr20:44418482 [GRCh38] Chr20:43047122 [GRCh37] Chr20:20q13.12 |
likely pathogenic |
GRCh37/hg19 20q13.12(chr20:43016840-43153243)x1 |
copy number loss |
See cases [RCV000446346] |
Chr20:43016840..43153243 [GRCh37] Chr20:20q13.12 |
uncertain significance |
NM_175914.5(HNF4A):c.844G>A (p.Asp282Asn) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002446763]|Maturity-onset diabetes of the young type 1 [RCV002481356]|Monogenic diabetes [RCV000445391]|not specified [RCV000517930] |
Chr20:44424035 [GRCh38] Chr20:43052675 [GRCh37] Chr20:20q13.12 |
uncertain significance |
NM_175914.5(HNF4A):c.224+2T>C |
single nucleotide variant |
not provided [RCV000434164] |
Chr20:44406234 [GRCh38] Chr20:43034874 [GRCh37] Chr20:20q13.12 |
pathogenic|likely pathogenic |
NM_175914.5(HNF4A):c.582+20G>C |
single nucleotide variant |
not provided [RCV002223206]|not specified [RCV000423354] |
Chr20:44414682 [GRCh38] Chr20:43043322 [GRCh37] Chr20:20q13.12 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_175914.5(HNF4A):c.926G>A (p.Arg309His) |
single nucleotide variant |
Maturity-onset diabetes of the young type 1 [RCV002285339]|not provided [RCV000483537] |
Chr20:44424117 [GRCh38] Chr20:43052757 [GRCh37] Chr20:20q13.12 |
likely pathogenic|uncertain significance |
NM_175914.5(HNF4A):c.470AGA[1] (p.Lys158del) |
microsatellite |
Maturity onset diabetes mellitus in young [RCV002222538]|Maturity-onset diabetes of the young type 1 [RCV000501220] |
Chr20:44414548..44414550 [GRCh38] Chr20:43043188..43043190 [GRCh37] Chr20:20q13.12 |
likely pathogenic |
NR_184036.1(R3HDML-AS1):n.3A>G |
single nucleotide variant |
not specified [RCV000503346] |
Chr20:44355240 [GRCh38] Chr20:42983880 [GRCh37] Chr20:20q13.12 |
uncertain significance |
NM_175914.5(HNF4A):c.906C>T (p.Asn302=) |
single nucleotide variant |
not specified [RCV000501332] |
Chr20:44424097 [GRCh38] Chr20:43052737 [GRCh37] Chr20:20q13.12 |
likely benign |
NM_175914.5(HNF4A):c.1177G>A (p.Gly393Arg) |
single nucleotide variant |
Maturity-onset diabetes of the young type 1 [RCV002506226]|not specified [RCV000501691] |
Chr20:44428448 [GRCh38] Chr20:43057088 [GRCh37] Chr20:20q13.12 |
uncertain significance |
NM_175914.5(HNF4A):c.200G>A (p.Arg67Gln) |
single nucleotide variant |
Hyperinsulinism due to HNF4A deficiency [RCV000504202]|Maturity onset diabetes mellitus in young [RCV002282183]|Maturity-onset diabetes of the young type 1 [RCV002285346]|not provided [RCV000992160] |
Chr20:44406208 [GRCh38] Chr20:43034848 [GRCh37] Chr20:20q13.12 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_175914.5(HNF4A):c.944TGC[6] (p.Leu319dup) |
microsatellite |
Hyperinsulinism due to HNF4A deficiency [RCV000499584]|Maturity-onset diabetes of the young type 1 [RCV002490833]|not provided [RCV001268775] |
Chr20:44424132..44424133 [GRCh38] Chr20:43052772..43052773 [GRCh37] Chr20:20q13.12 |
likely pathogenic |
NM_175914.4(HNF4A):c.-276G>T |
single nucleotide variant |
not specified [RCV000504496] |
Chr20:44355529 [GRCh38] Chr20:42984169 [GRCh37] Chr20:20q13.12 |
benign |
NM_175914.5(HNF4A):c.-83C>T |
single nucleotide variant |
not specified [RCV000500159] |
Chr20:44355722 [GRCh38] Chr20:42984362 [GRCh37] Chr20:20q13.12 |
uncertain significance |
NM_175914.4(HNF4A):c.-401G>A |
single nucleotide variant |
not provided [RCV001591139]|not specified [RCV000500270] |
Chr20:44355404 [GRCh38] Chr20:42984044 [GRCh37] Chr20:20q13.12 |
likely benign|uncertain significance |
NM_175914.4(HNF4A):c.-278G>A |
single nucleotide variant |
not provided [RCV001591140]|not specified [RCV000502426] |
Chr20:44355527 [GRCh38] Chr20:42984167 [GRCh37] Chr20:20q13.12 |
benign|likely benign|uncertain significance |
NM_175914.5(HNF4A):c.740T>C (p.Leu247Pro) |
single nucleotide variant |
Maturity-onset diabetes of the young type 1 [RCV000502655]|not provided [RCV001755742] |
Chr20:44419790 [GRCh38] Chr20:43048430 [GRCh37] Chr20:20q13.12 |
likely pathogenic|uncertain significance |
NM_175914.5(HNF4A):c.224G>A (p.Arg75Lys) |
single nucleotide variant |
Maturity-onset diabetes of the young type 1 [RCV000495952] |
Chr20:44406232 [GRCh38] Chr20:43034872 [GRCh37] Chr20:20q13.12 |
uncertain significance |
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3 |
copy number gain |
See cases [RCV000510832] |
Chr20:61569..62915555 [GRCh37] Chr20:20p13-q13.33 |
pathogenic |
NM_175914.5(HNF4A):c.1064-19C>A |
single nucleotide variant |
not provided [RCV001718905] |
Chr20:44428316 [GRCh38] Chr20:43056956 [GRCh37] Chr20:20q13.12 |
likely benign |
NM_175914.5(HNF4A):c.221G>A (p.Cys74Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV000622730] |
Chr20:44406229 [GRCh38] Chr20:43034869 [GRCh37] Chr20:20q13.12 |
uncertain significance |
NM_175914.5(HNF4A):c.138G>A (p.Thr46=) |
single nucleotide variant |
Familial hyperinsulinism [RCV001137029]|Maturity onset diabetes mellitus in young [RCV002395578]|Maturity-onset diabetes of the young type 1 [RCV001139276]|not provided [RCV002063877]|not specified [RCV000614639] |
Chr20:44406146 [GRCh38] Chr20:43034786 [GRCh37] Chr20:20q13.12 |
benign|likely benign |
NM_175914.5(HNF4A):c.1064-19C>T |
single nucleotide variant |
not provided [RCV002531657]|not specified [RCV000614712] |
Chr20:44428316 [GRCh38] Chr20:43056956 [GRCh37] Chr20:20q13.12 |
likely benign |
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555) |
copy number gain |
See cases [RCV000512450] |
Chr20:61569..62915555 [GRCh37] Chr20:20p13-q13.33 |
pathogenic |
NM_175914.5(HNF4A):c.100del (p.Val34fs) |
deletion |
not provided [RCV000627652] |
Chr20:44406108 [GRCh38] Chr20:43034748 [GRCh37] Chr20:20q13.12 |
pathogenic |
NM_175914.5(HNF4A):c.195C>A (p.Ser65Arg) |
single nucleotide variant |
not provided [RCV000658380] |
Chr20:44406203 [GRCh38] Chr20:43034843 [GRCh37] Chr20:20q13.12 |
uncertain significance |
NM_175914.5(HNF4A):c.427-1G>A |
single nucleotide variant |
Maturity-onset diabetes of the young type 1 [RCV000714521]|Maturity-onset diabetes of the young type 1 [RCV002499300] |
Chr20:44414506 [GRCh38] Chr20:43043146 [GRCh37] Chr20:20q13.12 |
pathogenic|likely pathogenic |
NM_175914.5(HNF4A):c.658G>A (p.Val220Met) |
single nucleotide variant |
not provided [RCV000681822] |
Chr20:44418500 [GRCh38] Chr20:43047140 [GRCh37] Chr20:20q13.12 |
likely pathogenic |
NM_175914.5(HNF4A):c.123C>T (p.Cys41=) |
single nucleotide variant |
Monogenic diabetes [RCV003126917]|not provided [RCV000711954] |
Chr20:44406131 [GRCh38] Chr20:43034771 [GRCh37] Chr20:20q13.12 |
benign|likely benign |
NM_175914.5(HNF4A):c.369G>A (p.Glu123=) |
single nucleotide variant |
not provided [RCV000711956] |
Chr20:44413743 [GRCh38] Chr20:43042383 [GRCh37] Chr20:20q13.12 |
benign |
NM_175914.5(HNF4A):c.670+5G>C |
single nucleotide variant |
not provided [RCV000711963] |
Chr20:44418517 [GRCh38] Chr20:43047157 [GRCh37] Chr20:20q13.12 |
uncertain significance |
NM_175914.5(HNF4A):c.789G>C (p.Glu263Asp) |
single nucleotide variant |
not provided [RCV000711964] |
Chr20:44419839 [GRCh38] Chr20:43048479 [GRCh37] Chr20:20q13.12 |
uncertain significance |
NM_175914.5(HNF4A):c.925C>A (p.Arg309Ser) |
single nucleotide variant |
not provided [RCV000711965] |
Chr20:44424116 [GRCh38] Chr20:43052756 [GRCh37] Chr20:20q13.12 |
uncertain significance |
NM_175914.5(HNF4A):c.932G>A (p.Arg311His) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002369982]|Maturity-onset diabetes of the young type 1 [RCV000754815]|not provided [RCV000711966] |
Chr20:44424123 [GRCh38] Chr20:43052763 [GRCh37] Chr20:20q13.12 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_175914.5(HNF4A):c.953T>A (p.Leu318Gln) |
single nucleotide variant |
not provided [RCV000711950] |
Chr20:44424144 [GRCh38] Chr20:43052784 [GRCh37] Chr20:20q13.12 |
uncertain significance |
NM_175914.5(HNF4A):c.1017C>T (p.Phe339=) |
single nucleotide variant |
Monogenic diabetes [RCV003126916]|not provided [RCV000711951] |
Chr20:44424208 [GRCh38] Chr20:43052848 [GRCh37] Chr20:20q13.12 |
benign|likely benign |
NM_175914.5(HNF4A):c.1063G>A (p.Gly355Arg) |
single nucleotide variant |
not provided [RCV000711952] |
Chr20:44424254 [GRCh38] Chr20:43052894 [GRCh37] Chr20:20q13.12 |
uncertain significance |
NM_175914.5(HNF4A):c.53C>T (p.Thr18Met) |
single nucleotide variant |
Maturity-onset diabetes of the young type 1 [RCV000764240]|not provided [RCV000711953] |
Chr20:44406061 [GRCh38] Chr20:43034701 [GRCh37] Chr20:20q13.12 |
uncertain significance |
NM_175914.5(HNF4A):c.408G>A (p.Ala136=) |
single nucleotide variant |
Monogenic diabetes [RCV003126918]|not provided [RCV000711957] |
Chr20:44413782 [GRCh38] Chr20:43042422 [GRCh37] Chr20:20q13.12 |
benign|likely benign |
NM_175914.5(HNF4A):c.427A>G (p.Ile143Val) |
single nucleotide variant |
Maturity-onset diabetes of the young type 1 [RCV002477645]|not provided [RCV000711959] |
Chr20:44414507 [GRCh38] Chr20:43043147 [GRCh37] Chr20:20q13.12 |
uncertain significance |
NM_175914.5(HNF4A):c.576C>T (p.Asp192=) |
single nucleotide variant |
Maturity-onset diabetes of the young type 1 [RCV002477646]|not provided [RCV000711960] |
Chr20:44414656 [GRCh38] Chr20:43043296 [GRCh37] Chr20:20q13.12 |
benign|likely benign |
NM_175914.5(HNF4A):c.583-27G>A |
single nucleotide variant |
not provided [RCV000711961] |
Chr20:44418398 [GRCh38] Chr20:43047038 [GRCh37] Chr20:20q13.12 |
benign|likely benign |
NM_175914.5(HNF4A):c.593T>G (p.Leu198Arg) |
single nucleotide variant |
not provided [RCV000711962] |
Chr20:44418435 [GRCh38] Chr20:43047075 [GRCh37] Chr20:20q13.12 |
uncertain significance |
NM_175914.5(HNF4A):c.863G>A (p.Arg288Gln) |
single nucleotide variant |
Familial hyperinsulinism [RCV001139379]|Maturity-onset diabetes of the young type 1 [RCV000779347]|not specified [RCV001526903] |
Chr20:44424054 [GRCh38] Chr20:43052694 [GRCh37] Chr20:20q13.12 |
uncertain significance |
NM_175914.5(HNF4A):c.1del (p.Met1fs) |
deletion |
Maturity-onset diabetes of the young type 1 [RCV001730177] |
Chr20:44355805 [GRCh38] Chr20:42984445 [GRCh37] Chr20:20q13.12 |
likely pathogenic |
NM_175914.5(HNF4A):c.48C>G (p.Tyr16Ter) |
single nucleotide variant |
Maturity-onset diabetes of the young type 1 [RCV001730179] |
Chr20:44355852 [GRCh38] Chr20:42984492 [GRCh37] Chr20:20q13.12 |
pathogenic |
NM_175914.5(HNF4A):c.-181G>C |
single nucleotide variant |
Maturity-onset diabetes of the young type 1 [RCV001730180] |
Chr20:44355624 [GRCh38] Chr20:42984264 [GRCh37] Chr20:20q13.12 |
pathogenic |
GRCh37/hg19 20p13-q13.33(chr20:63244-62948788)x3 |
copy number gain |
not provided [RCV000741058] |
Chr20:63244..62948788 [GRCh37] Chr20:20p13-q13.33 |
pathogenic |
GRCh37/hg19 20p13-q13.33(chr20:63244-62961294)x3 |
copy number gain |
not provided [RCV000741059] |
Chr20:63244..62961294 [GRCh37] Chr20:20p13-q13.33 |
pathogenic |
GRCh37/hg19 20p13-q13.33(chr20:63244-62912463)x3 |
copy number gain |
not provided [RCV000741057] |
Chr20:63244..62912463 [GRCh37] Chr20:20p13-q13.33 |
pathogenic |
NM_175914.5(HNF4A):c.319+283TG[16] |
microsatellite |
not provided [RCV001548151] |
Chr20:44407758..44407759 [GRCh38] Chr20:43036398..43036399 [GRCh37] Chr20:20q13.12 |
likely benign |
NM_175914.5(HNF4A):c.265C>T (p.Gln89Ter) |
single nucleotide variant |
Maturity-onset diabetes of the young type 1 [RCV000754819] |
Chr20:44407421 [GRCh38] Chr20:43036061 [GRCh37] Chr20:20q13.12 |
pathogenic |
NM_175914.5(HNF4A):c.50-5034T>C |
single nucleotide variant |
not provided [RCV001669297] |
Chr20:44401024 [GRCh38] Chr20:43029664 [GRCh37] Chr20:20q13.12 |
benign |
NM_175914.5(HNF4A):c.691C>T (p.Arg231Trp) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002368564]|Maturity-onset diabetes of the young type 1 [RCV002285490]|Maturity-onset diabetes of the young type 1 [RCV002488364]|not provided [RCV001545867] |
Chr20:44419741 [GRCh38] Chr20:43048381 [GRCh37] Chr20:20q13.12 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_175914.5(HNF4A):c.319G>A (p.Ala107Thr) |
single nucleotide variant |
not provided [RCV001565404] |
Chr20:44407475 [GRCh38] Chr20:43036115 [GRCh37] Chr20:20q13.12 |
uncertain significance |
NM_175914.5(HNF4A):c.320-243C>T |
single nucleotide variant |
not provided [RCV001565663] |
Chr20:44413451 [GRCh38] Chr20:43042091 [GRCh37] Chr20:20q13.12 |
likely benign |
NM_175914.5(HNF4A):c.201del (p.Lys68fs) |
deletion |
Maturity-onset diabetes of the young type 1 [RCV000754810] |
Chr20:44406208 [GRCh38] Chr20:43034848 [GRCh37] Chr20:20q13.12 |
likely pathogenic |
NM_175914.5(HNF4A):c.224+1G>A |
single nucleotide variant |
not provided [RCV000992161] |
Chr20:44406233 [GRCh38] Chr20:43034873 [GRCh37] Chr20:20q13.12 |
pathogenic |
NM_175914.5(HNF4A):c.319+2T>C |
single nucleotide variant |
not provided [RCV000992163] |
Chr20:44407477 [GRCh38] Chr20:43036117 [GRCh37] Chr20:20q13.12 |
pathogenic |
NM_175914.5(HNF4A):c.869G>A (p.Arg290His) |
single nucleotide variant |
Maturity-onset diabetes of the young type 1 [RCV001248988]|not provided [RCV000992167] |
Chr20:44424060 [GRCh38] Chr20:43052700 [GRCh37] Chr20:20q13.12 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_175914.5(HNF4A):c.282G>A (p.Arg94=) |
single nucleotide variant |
not provided [RCV000904942] |
Chr20:44407438 [GRCh38] Chr20:43036078 [GRCh37] Chr20:20q13.12 |
likely benign |
NM_175914.5(HNF4A):c.489A>G (p.Ala163=) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002336918]|not provided [RCV000924707] |
Chr20:44414569 [GRCh38] Chr20:43043209 [GRCh37] Chr20:20q13.12 |
likely benign |
NM_175914.5(HNF4A):c.582+4A>G |
single nucleotide variant |
Familial hyperinsulinism [RCV001143696]|Maturity onset diabetes mellitus in young [RCV002227227]|Maturity-onset diabetes of the young type 1 [RCV001143697]|not provided [RCV000926146]|not specified [RCV001664552] |
Chr20:44414666 [GRCh38] Chr20:43043306 [GRCh37] Chr20:20q13.12 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_175914.5(HNF4A):c.225-8C>T |
single nucleotide variant |
not provided [RCV000903094] |
Chr20:44407373 [GRCh38] Chr20:43036013 [GRCh37] Chr20:20q13.12 |
likely benign |
NM_175914.5(HNF4A):c.791A>G (p.Tyr264Cys) |
single nucleotide variant |
Maturity-onset diabetes of the young type 1 [RCV001249066]|Maturity-onset diabetes of the young type 1 [RCV002487615]|not provided [RCV000782229] |
Chr20:44419841 [GRCh38] Chr20:43048481 [GRCh37] Chr20:20q13.12 |
uncertain significance |
NM_175914.5(HNF4A):c.726G>C (p.Val242=) |
single nucleotide variant |
not provided [RCV000937768] |
Chr20:44419776 [GRCh38] Chr20:43048416 [GRCh37] Chr20:20q13.12 |
likely benign |
NM_175914.5(HNF4A):c.1217-145T>C |
single nucleotide variant |
not provided [RCV000836353] |
Chr20:44429378 [GRCh38] Chr20:43058018 [GRCh37] Chr20:20q13.12 |
benign |
NM_175914.5(HNF4A):c.1217-151A>C |
single nucleotide variant |
not provided [RCV000836354] |
Chr20:44429372 [GRCh38] Chr20:43058012 [GRCh37] Chr20:20q13.12 |
benign |
NM_175914.5(HNF4A):c.733C>T (p.Arg245Cys) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002382225]|not provided [RCV000992166]|not specified [RCV001420860] |
Chr20:44419783 [GRCh38] Chr20:43048423 [GRCh37] Chr20:20q13.12 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_175914.5(HNF4A):c.224+266C>T |
single nucleotide variant |
not provided [RCV000826377] |
Chr20:44406498 [GRCh38] Chr20:43035138 [GRCh37] Chr20:20q13.12 |
benign |
NM_175914.5(HNF4A):c.50-4538G>A |
single nucleotide variant |
not provided [RCV000833677] |
Chr20:44401520 [GRCh38] Chr20:43030160 [GRCh37] Chr20:20q13.12 |
benign |
NM_175914.5(HNF4A):c.427-96C>G |
single nucleotide variant |
not provided [RCV000833679] |
Chr20:44414411 [GRCh38] Chr20:43043051 [GRCh37] Chr20:20q13.12 |
benign |
NM_175914.5(HNF4A):c.427-52G>A |
single nucleotide variant |
not provided [RCV000833680] |
Chr20:44414455 [GRCh38] Chr20:43043095 [GRCh37] Chr20:20q13.12 |
benign |
NM_175914.5(HNF4A):c.670+141A>G |
single nucleotide variant |
not provided [RCV000836348] |
Chr20:44418653 [GRCh38] Chr20:43047293 [GRCh37] Chr20:20q13.12 |
benign |
NM_175914.5(HNF4A):c.670+196G>A |
single nucleotide variant |
not provided [RCV000836349] |
Chr20:44418708 [GRCh38] Chr20:43047348 [GRCh37] Chr20:20q13.12 |
benign |
NM_175914.5(HNF4A):c.826+169A>G |
single nucleotide variant |
not provided [RCV000836350] |
Chr20:44420045 [GRCh38] Chr20:43048685 [GRCh37] Chr20:20q13.12 |
benign |
NM_175914.5(HNF4A):c.827-88T>C |
single nucleotide variant |
not provided [RCV000836351] |
Chr20:44423930 [GRCh38] Chr20:43052570 [GRCh37] Chr20:20q13.12 |
benign |
NM_175914.5(HNF4A):c.1217-67C>G |
single nucleotide variant |
not provided [RCV000836355] |
Chr20:44429456 [GRCh38] Chr20:43058096 [GRCh37] Chr20:20q13.12 |
benign |
NM_175914.5(HNF4A):c.50-4263G>A |
single nucleotide variant |
not provided [RCV000826376] |
Chr20:44401795 [GRCh38] Chr20:43030435 [GRCh37] Chr20:20q13.12 |
benign |
NM_175914.5(HNF4A):c.224+288G>C |
single nucleotide variant |
not provided [RCV000826378] |
Chr20:44406520 [GRCh38] Chr20:43035160 [GRCh37] Chr20:20q13.12 |
benign |
NM_175914.5(HNF4A):c.50-4630T>C |
single nucleotide variant |
Familial hyperinsulinism [RCV001137027]|Maturity-onset diabetes of the young type 1 [RCV001137028] |
Chr20:44401428 [GRCh38] Chr20:43030068 [GRCh37] Chr20:20q13.12 |
uncertain significance |
NM_175914.5(HNF4A):c.*2761G>C |
single nucleotide variant |
Familial hyperinsulinism [RCV001137696]|Maturity-onset diabetes of the young type 1 [RCV001137695] |
Chr20:44432426 [GRCh38] Chr20:43061066 [GRCh37] Chr20:20q13.12 |
uncertain significance |
NM_175914.5(HNF4A):c.999C>T (p.Ile333=) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002382087]|Maturity-onset diabetes of the young type 1 [RCV002505362]|not provided [RCV000920765] |
Chr20:44424190 [GRCh38] Chr20:43052830 [GRCh37] Chr20:20q13.12 |
benign|likely benign |
NM_175914.5(HNF4A):c.320-204C>G |
single nucleotide variant |
not provided [RCV000836376] |
Chr20:44413490 [GRCh38] Chr20:430421 |