NM_000209.4(PDX1):c.719C>G (p.Pro240Arg) |
single nucleotide variant |
Maturity-onset diabetes of the young type 4 [RCV002481677]|Monogenic diabetes [RCV001174446]|PDX1-related condition [RCV003409736]|not provided [RCV003727759]|not specified [RCV000516994] |
Chr13:27924568 [GRCh38] Chr13:28498705 [GRCh37] Chr13:13q12.2 |
uncertain significance |
NM_000209.4(PDX1):c.188del (p.Pro63fs) |
deletion |
Maturity onset diabetes mellitus in young [RCV002408471]|Maturity-onset diabetes of the young type 4 [RCV000503973]|Maturity-onset diabetes of the young type 4 [RCV001249085]|Maturity-onset diabetes of the young type 4 [RCV002476994]|Pancreatic agenesis 1 [RCV001847609]|Permanent neonatal diabetes mellitus [RCV000020214]|not provided [RCV000516632] |
Chr13:27920321 [GRCh38] Chr13:28494458 [GRCh37] Chr13:13q12.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
NM_000209.4(PDX1):c.-18C>T |
single nucleotide variant |
Maturity-onset diabetes of the young type 4 [RCV000030073]|not specified [RCV000425057] |
Chr13:27920121 [GRCh38] Chr13:28494258 [GRCh37] Chr13:13q12.2 |
benign|likely benign|uncertain significance |
NM_000209.4(PDX1):c.-50CTCCCGG[5] |
microsatellite |
Maturity-onset diabetes of the young type 4 [RCV000030074] |
Chr13:27920088..27920089 [GRCh38] Chr13:28494225..28494226 [GRCh37] Chr13:13q12.2 |
uncertain significance |
NM_000209.4(PDX1):c.162G>A (p.Leu54=) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002399341]|Maturity-onset diabetes of the young type 4 [RCV000030075]|Pancreatic hypoplasia [RCV002465493]|not provided [RCV000882803]|not specified [RCV000396870] |
Chr13:27920300 [GRCh38] Chr13:28494437 [GRCh37] Chr13:13q12.2 |
benign|likely benign |
NM_000209.4(PDX1):c.216C>T (p.Pro72=) |
single nucleotide variant |
Maturity-onset diabetes of the young type 4 [RCV002496460]|Neonatal diabetes mellitus [RCV000030076]|not provided [RCV002513255] |
Chr13:27920354 [GRCh38] Chr13:28494491 [GRCh37] Chr13:13q12.2 |
likely benign |
NM_000209.4(PDX1):c.318G>T (p.Pro106=) |
single nucleotide variant |
Maturity-onset diabetes of the young type 4 [RCV000030078] |
Chr13:27920456 [GRCh38] Chr13:28494593 [GRCh37] Chr13:13q12.2 |
likely benign |
NM_000209.4(PDX1):c.442C>G (p.Arg148Gly) |
single nucleotide variant |
Maturity-onset diabetes of the young type 4 [RCV000030079] |
Chr13:27924291 [GRCh38] Chr13:28498428 [GRCh37] Chr13:13q12.2 |
likely pathogenic |
NM_000209.4(PDX1):c.543C>T (p.Val181=) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002345257]|Maturity-onset diabetes of the young type 4 [RCV000030080]|not provided [RCV000332874]|not specified [RCV001289059] |
Chr13:27924392 [GRCh38] Chr13:28498529 [GRCh37] Chr13:13q12.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000209.4(PDX1):c.571A>C (p.Lys191Gln) |
single nucleotide variant |
Maturity-onset diabetes of the young type 4 [RCV000030081] |
Chr13:27924420 [GRCh38] Chr13:28498557 [GRCh37] Chr13:13q12.2 |
likely pathogenic |
NM_000209.3(PDX1):c.724_726dupCCG (p.Pro244_Gly245insPro) |
duplication |
Maturity-onset diabetes of the young, type 4 [RCV000030082] |
Chr13:27924573..27924575 [GRCh38] Chr13:28498710..28498712 [GRCh37] Chr13:13q12.2 |
benign |
NM_000209.4(PDX1):c.725C>T (p.Pro242Leu) |
single nucleotide variant |
Maturity-onset diabetes of the young type 4 [RCV001249016]|PDX1-related condition [RCV003934857]|Pancreatic hypoplasia [RCV002464002]|not provided [RCV000840733]|not specified [RCV000455258] |
Chr13:27924574 [GRCh38] Chr13:28498711 [GRCh37] Chr13:13q12.2 |
likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000209.4(PDX1):c.714GCC[6] (p.Pro244_Gly245insPro) |
microsatellite |
Diabetes mellitus type 2, susceptibility to [RCV002279932]|Maturity onset diabetes mellitus in young [RCV002381270]|Maturity-onset diabetes of the young type 4 [RCV000030082]|Monogenic diabetes [RCV000445549]|Neonatal diabetes mellitus [RCV000030084]|not provided [RCV000959390]|not specified [RCV000261035] |
Chr13:27924562..27924563 [GRCh38] Chr13:28498712..28498714 [GRCh37] Chr13:13q12.2 |
risk factor|benign|likely benign|uncertain significance |
NM_000209.4(PDX1):c.773A>G (p.Glu258Gly) |
single nucleotide variant |
Maturity-onset diabetes of the young type 4 [RCV000030085] |
Chr13:27924622 [GRCh38] Chr13:28498759 [GRCh37] Chr13:13q12.2 |
likely pathogenic |
NM_000209.4(PDX1):c.97C>A (p.Pro33Thr) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002381271]|Maturity-onset diabetes of the young type 4 [RCV000988971]|Monogenic diabetes [RCV001174416]|Type 2 diabetes mellitus [RCV001329696]|not provided [RCV000414508]|not specified [RCV000030086] |
Chr13:27920235 [GRCh38] Chr13:28494372 [GRCh37] Chr13:13q12.2 |
likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000209.4(PDX1):c.533A>G (p.Glu178Gly) |
single nucleotide variant |
Maturity-onset diabetes of the young type 4 [RCV000502995]|Pancreatic agenesis 1 [RCV000023034]|Permanent neonatal diabetes mellitus [RCV000239365] |
Chr13:27924382 [GRCh38] Chr13:28498519 [GRCh37] Chr13:13q12.2 |
pathogenic|not provided |
PDX1, 1-BP DEL, 188C |
deletion |
Maturity-onset diabetes of the young type 4 [RCV000009407]|Pancreatic agenesis 1 [RCV000009406] |
Chr13:13q12.1 |
pathogenic |
NM_000209.4(PDX1):c.590G>A (p.Arg197His) |
single nucleotide variant |
Diabetes mellitus type 2, susceptibility to [RCV001799500] |
Chr13:27924439 [GRCh38] Chr13:28498576 [GRCh37] Chr13:13q12.2 |
risk factor |
NM_000209.4(PDX1):c.226G>A (p.Asp76Asn) |
single nucleotide variant |
Diabetes mellitus type 2, susceptibility to [RCV001799501]|Maturity onset diabetes mellitus in young [RCV000626294]|Maturity-onset diabetes of the young type 4 [RCV000030077]|Monogenic diabetes [RCV000445407]|Type 2 diabetes mellitus [RCV000009409]|not provided [RCV000948405]|not specified [RCV000246150] |
Chr13:27920364 [GRCh38] Chr13:28494501 [GRCh37] Chr13:13q12.2 |
likely pathogenic|risk factor|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
NM_000209.4(PDX1):c.176A>T (p.Gln59Leu) |
single nucleotide variant |
Diabetes mellitus type 2, susceptibility to [RCV001799502] |
Chr13:27920314 [GRCh38] Chr13:28494451 [GRCh37] Chr13:13q12.2 |
risk factor |
NM_000209.4:c.726_728dup |
insertion |
Diabetes mellitus type 2, susceptibility to [RCV001799503] |
Chr13:13q12.1 |
risk factor |
NM_000209.4(PDX1):c.52T>C (p.Cys18Arg) |
single nucleotide variant |
Diabetes mellitus type 2, susceptibility to [RCV001799504]|Maturity-onset diabetes of the young type 4 [RCV002482844]|Type 2 diabetes mellitus [RCV000009412]|not provided [RCV000439286] |
Chr13:27920190 [GRCh38] Chr13:28494327 [GRCh37] Chr13:13q12.2 |
likely pathogenic|risk factor|uncertain significance |
NM_000209.4(PDX1):c.670G>A (p.Glu224Lys) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002362573]|Maturity-onset diabetes of the young type 4 [RCV000009413]|Maturity-onset diabetes of the young type 4 [RCV002467490]|Monogenic diabetes [RCV000445478]|Type 2 diabetes mellitus [RCV001258264]|not provided [RCV000523853]|not specified [RCV001659687] |
Chr13:27924519 [GRCh38] Chr13:28498656 [GRCh37] Chr13:13q12.2 |
pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000209.4(PDX1):c.492G>T (p.Glu164Asp) |
single nucleotide variant |
Diabetes mellitus type 2, susceptibility to [RCV001799505]|Pancreatic agenesis 1 [RCV000020215] |
Chr13:27924341 [GRCh38] Chr13:28498478 [GRCh37] Chr13:13q12.2 |
pathogenic|risk factor |
NM_000209.4(PDX1):c.532G>A (p.Glu178Lys) |
single nucleotide variant |
Pancreatic agenesis 1 [RCV000020216] |
Chr13:27924381 [GRCh38] Chr13:28498518 [GRCh37] Chr13:13q12.2 |
pathogenic |
NM_000209.4(PDX1):c.820G>T (p.Val274Phe) |
single nucleotide variant |
Maturity-onset diabetes of the young type 4 [RCV002490898]|not provided [RCV000712003]|not specified [RCV001821454] |
Chr13:27924669 [GRCh38] Chr13:28498806 [GRCh37] Chr13:13q12.2 |
uncertain significance |
NM_000209.4(PDX1):c.28G>A (p.Ala10Thr) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002438243]|Maturity-onset diabetes of the young type 4 [RCV002225108]|Monogenic diabetes [RCV001174415]|not provided [RCV001770392]|not specified [RCV000517828] |
Chr13:27920166 [GRCh38] Chr13:28494303 [GRCh37] Chr13:13q12.2 |
uncertain significance |
GRCh38/hg38 13q12.11-12.3(chr13:18958091-31090460)x3 |
copy number gain |
See cases [RCV000053729] |
Chr13:18958091..31090460 [GRCh38] Chr13:19532231..31664597 [GRCh37] Chr13:18430231..30562597 [NCBI36] Chr13:13q12.11-12.3 |
pathogenic |
GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3 |
copy number gain |
See cases [RCV000053731] |
Chr13:19837395..114327173 [GRCh38] Chr13:20411535..115085141 [GRCh37] Chr13:19309535..114110750 [NCBI36] Chr13:13q12.11-34 |
pathogenic |
GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3 |
copy number gain |
See cases [RCV000053719] |
Chr13:18565048..114327173 [GRCh38] Chr13:19139188..115085141 [GRCh37] Chr13:18037188..114110750 [NCBI36] Chr13:13q11-34 |
pathogenic |
GRCh38/hg38 13q11-13.3(chr13:18676442-37656039)x3 |
copy number gain |
See cases [RCV000053721] |
Chr13:18676442..37656039 [GRCh38] Chr13:19250582..38230176 [GRCh37] Chr13:18148582..37128176 [NCBI36] Chr13:13q11-13.3 |
pathogenic |
GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3 |
copy number gain |
See cases [RCV000053723] |
Chr13:18850545..114327173 [GRCh38] Chr13:19296527..115085141 [GRCh37] Chr13:18194527..114110750 [NCBI36] Chr13:13q11-34 |
pathogenic |
GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3 |
copy number gain |
See cases [RCV000053726] |
Chr13:18946182..114304628 [GRCh38] Chr13:19520322..115070103 [GRCh37] Chr13:18418322..114088205 [NCBI36] Chr13:13q12.11-34 |
pathogenic |
NM_000209.4(PDX1):c.728C>G (p.Pro243Arg) |
single nucleotide variant |
Monogenic diabetes [RCV000664142] |
Chr13:27924577 [GRCh38] Chr13:28498714 [GRCh37] Chr13:13q12.2 |
uncertain significance |
NM_000209.4(PDX1):c.716C>A (p.Pro239Gln) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002371951]|Maturity-onset diabetes of the young type 4 [RCV000988972]|Monogenic diabetes [RCV000445403]|Pancreatic hypoplasia [RCV002250564]|not provided [RCV000117899]|not specified [RCV000515153] |
Chr13:27924565 [GRCh38] Chr13:28498702 [GRCh37] Chr13:13q12.2 |
benign|likely benign|uncertain significance |
GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3 |
copy number gain |
See cases [RCV000134104] |
Chr13:19833130..114298614 [GRCh38] Chr13:20407270..115064089 [GRCh37] Chr13:19305270..114082191 [NCBI36] Chr13:13q12.11-34 |
pathogenic |
GRCh38/hg38 13q12.13-12.3(chr13:26965244-30097858)x3 |
copy number gain |
See cases [RCV000135283] |
Chr13:26965244..30097858 [GRCh38] Chr13:27539381..30671995 [GRCh37] Chr13:26437381..29569995 [NCBI36] Chr13:13q12.13-12.3 |
likely pathogenic |
GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1 |
copy number loss |
See cases [RCV000135610] |
Chr13:18445862..114327173 [GRCh38] Chr13:19020001..115085141 [GRCh37] Chr13:10098739..114110750 [NCBI36] Chr13:13q11-34 |
pathogenic |
GRCh38/hg38 13q12.11-14.11(chr13:19671934-40914767)x3 |
copy number gain |
See cases [RCV000137892] |
Chr13:19671934..40914767 [GRCh38] Chr13:20246074..41488903 [GRCh37] Chr13:19144074..40386903 [NCBI36] Chr13:13q12.11-14.11 |
pathogenic |
GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3 |
copy number gain |
See cases [RCV000139078] |
Chr13:19833130..114327106 [GRCh38] Chr13:20407270..115085141 [GRCh37] Chr13:19305270..114110683 [NCBI36] Chr13:13q12.11-34 |
pathogenic |
GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3 |
copy number gain |
See cases [RCV000140004] |
Chr13:18456040..114340285 [GRCh38] Chr13:19030180..115105760 [GRCh37] Chr13:17928180..114123862 [NCBI36] Chr13:13q11-34 |
pathogenic |
GRCh38/hg38 13q11-13.2(chr13:18862146-33577351)x3 |
copy number gain |
See cases [RCV000141867] |
Chr13:18862146..33577351 [GRCh38] Chr13:19436286..34151488 [GRCh37] Chr13:18334286..33049488 [NCBI36] Chr13:13q11-13.2 |
pathogenic |
GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3 |
copy number gain |
See cases [RCV000142924] |
Chr13:19671934..114340331 [GRCh38] Chr13:20246074..115085141 [GRCh37] Chr13:19144074..114123908 [NCBI36] Chr13:13q12.11-34 |
pathogenic |
GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3 |
copy number gain |
See cases [RCV000143462] |
Chr13:18862146..114342258 [GRCh38] Chr13:19436286..115107733 [GRCh37] Chr13:18334286..114125835 [NCBI36] Chr13:13q11-34 |
pathogenic |
GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3 |
copy number gain |
See cases [RCV000148126] |
Chr13:19837395..114327173 [GRCh38] Chr13:20411535..115085141 [GRCh37] Chr13:19309535..114110750 [NCBI36] Chr13:13q12.11-34 |
pathogenic |
NM_000209.4(PDX1):c.285G>A (p.Pro95=) |
single nucleotide variant |
not specified [RCV000195068] |
Chr13:27920423 [GRCh38] Chr13:28494560 [GRCh37] Chr13:13q12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
GRCh37/hg19 13q12.11-34(chr13:19571503-115092569)x3 |
copy number gain |
See cases [RCV000240150] |
Chr13:19571503..115092569 [GRCh37] Chr13:13q12.11-34 |
pathogenic |
NM_000209.4(PDX1):c.336C>G (p.Pro112=) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002450805]|PDX1-related condition [RCV003982983]|not provided [RCV000924378]|not specified [RCV000288861] |
Chr13:27920474 [GRCh38] Chr13:28494611 [GRCh37] Chr13:13q12.2 |
benign|likely benign|conflicting interpretations of pathogenicity |
GRCh37/hg19 13q11-34(chr13:19053605-115108528)x3 |
copy number gain |
See cases [RCV001353184] |
Chr13:19053605..115108528 [GRCh37] Chr13:13q11-34 |
pathogenic |
NM_000209.4(PDX1):c.312C>T (p.Ala104=) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002323879]|Maturity-onset diabetes of the young type 4 [RCV002506256]|not provided [RCV001560945]|not specified [RCV000518561] |
Chr13:27920450 [GRCh38] Chr13:28494587 [GRCh37] Chr13:13q12.2 |
likely benign |
GRCh37/hg19 13q12.11-34(chr13:19571503-115092510) |
copy number gain |
See cases [RCV000449142] |
Chr13:19571503..115092510 [GRCh37] Chr13:13q12.11-34 |
pathogenic |
GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3 |
copy number gain |
See cases [RCV000445886] |
Chr13:19436286..115107733 [GRCh37] Chr13:13q11-34 |
pathogenic |
NM_000209.4(PDX1):c.6C>T (p.Asn2=) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002365519]|not provided [RCV000712002] |
Chr13:27920144 [GRCh38] Chr13:28494281 [GRCh37] Chr13:13q12.2 |
benign|likely benign |
NM_000209.4(PDX1):c.732C>G (p.Pro244=) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002379376]|not provided [RCV000761855] |
Chr13:27924581 [GRCh38] Chr13:28498718 [GRCh37] Chr13:13q12.2 |
likely benign |
NM_000209.4(PDX1):c.-50CTCCCGG[3] |
microsatellite |
not specified [RCV000485839] |
Chr13:27920089..27920095 [GRCh38] Chr13:28494226..28494232 [GRCh37] Chr13:13q12.2 |
likely benign |
NM_000209.4(PDX1):c.502A>C (p.Asn168His) |
single nucleotide variant |
Maturity-onset diabetes of the young type 4 [RCV000501202] |
Chr13:27924351 [GRCh38] Chr13:28498488 [GRCh37] Chr13:13q12.2 |
likely pathogenic |
GRCh37/hg19 13q11-34(chr13:19436287-115107733) |
copy number gain |
See cases [RCV000510405] |
Chr13:19436287..115107733 [GRCh37] Chr13:13q11-34 |
pathogenic |
GRCh37/hg19 13q11-34(chr13:19436287-115107733)x3 |
copy number gain |
See cases [RCV000511880] |
Chr13:19436287..115107733 [GRCh37] Chr13:13q11-34 |
pathogenic |
NM_000209.4(PDX1):c.165C>A (p.Gly55=) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002404702]|not provided [RCV000711998]|not specified [RCV000615233] |
Chr13:27920303 [GRCh38] Chr13:28494440 [GRCh37] Chr13:13q12.2 |
benign|likely benign |
GRCh37/hg19 13q12.12-13.2(chr13:24080918-34361992)x1 |
copy number loss |
Poly (ADP-Ribose) polymerase inhibitor response [RCV000626443] |
Chr13:24080918..34361992 [GRCh37] Chr13:13q12.12-13.2 |
drug response |
GRCh37/hg19 13q12.2-12.3(chr13:28152002-29117192)x3 |
copy number gain |
See cases [RCV000512521] |
Chr13:28152002..29117192 [GRCh37] Chr13:13q12.2-12.3 |
uncertain significance |
GRCh37/hg19 13q11-22.1(chr13:19436286-74045459)x3 |
copy number gain |
not provided [RCV000683572] |
Chr13:19436286..74045459 [GRCh37] Chr13:13q11-22.1 |
pathogenic |
NM_000209.4(PDX1):c.*8G>A |
single nucleotide variant |
not provided [RCV000711997] |
Chr13:27924709 [GRCh38] Chr13:28498846 [GRCh37] Chr13:13q12.2 |
uncertain significance |
NM_000209.4(PDX1):c.8G>C (p.Gly3Ala) |
single nucleotide variant |
Maturity-onset diabetes of the young type 4 [RCV002493262]|Pancreatic hypoplasia [RCV002463733]|not provided [RCV000712004]|not specified [RCV003151139] |
Chr13:27920146 [GRCh38] Chr13:28494283 [GRCh37] Chr13:13q12.2 |
uncertain significance |
NM_000209.4(PDX1):c.217dup (p.Leu73fs) |
duplication |
PDX1-Related Disorders [RCV002271575]|not provided [RCV000711999] |
Chr13:27920348..27920349 [GRCh38] Chr13:28494485..28494486 [GRCh37] Chr13:13q12.2 |
pathogenic|likely pathogenic |
NM_000209.4(PDX1):c.259C>G (p.Pro87Ala) |
single nucleotide variant |
not provided [RCV000712000] |
Chr13:27920397 [GRCh38] Chr13:28494534 [GRCh37] Chr13:13q12.2 |
uncertain significance |
NM_000209.4(PDX1):c.418G>A (p.Ala140Thr) |
single nucleotide variant |
Pancreatic hypoplasia [RCV002464032]|not provided [RCV000712001] |
Chr13:27924267 [GRCh38] Chr13:28498404 [GRCh37] Chr13:13q12.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
GRCh37/hg19 13q11-34(chr13:19058717-115103529)x3 |
copy number gain |
not provided [RCV000738115] |
Chr13:19058717..115103529 [GRCh37] Chr13:13q11-34 |
pathogenic |
GRCh37/hg19 13q11-34(chr13:19031237-115107157)x3 |
copy number gain |
not provided [RCV000750643] |
Chr13:19031237..115107157 [GRCh37] Chr13:13q11-34 |
pathogenic |
NM_000209.4(PDX1):c.210G>T (p.Val70=) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002421237]|not specified [RCV001663740] |
Chr13:27920348 [GRCh38] Chr13:28494485 [GRCh37] Chr13:13q12.2 |
likely benign |
NM_000209.4(PDX1):c.97C>G (p.Pro33Ala) |
single nucleotide variant |
Maturity-onset diabetes of the young type 4 [RCV002468284]|not provided [RCV002032659]|not specified [RCV001663754] |
Chr13:27920235 [GRCh38] Chr13:28494372 [GRCh37] Chr13:13q12.2 |
benign|likely benign|uncertain significance |
NM_000209.4(PDX1):c.321C>A (p.Gly107=) |
single nucleotide variant |
not provided [RCV000898900] |
Chr13:27920459 [GRCh38] Chr13:28494596 [GRCh37] Chr13:13q12.2 |
likely benign |
NM_000209.4(PDX1):c.848G>A (p.Arg283Gln) |
single nucleotide variant |
not provided [RCV000827595]|not specified [RCV001664447] |
Chr13:27924697 [GRCh38] Chr13:28498834 [GRCh37] Chr13:13q12.2 |
likely benign|conflicting interpretations of pathogenicity |
NM_000209.4(PDX1):c.407-70G>C |
single nucleotide variant |
not provided [RCV000832832] |
Chr13:27924186 [GRCh38] Chr13:28498323 [GRCh37] Chr13:13q12.2 |
benign |
NM_000209.4(PDX1):c.407-68G>T |
single nucleotide variant |
not provided [RCV000832833] |
Chr13:27924188 [GRCh38] Chr13:28498325 [GRCh37] Chr13:13q12.2 |
benign |
NM_000209.4(PDX1):c.407-291G>A |
single nucleotide variant |
not provided [RCV000828886] |
Chr13:27923965 [GRCh38] Chr13:28498102 [GRCh37] Chr13:13q12.2 |
benign |
NM_000209.3(PDX1):c.-279G>A |
single nucleotide variant |
not provided [RCV000828829] |
Chr13:27919860 [GRCh38] Chr13:28493997 [GRCh37] Chr13:13q12.2 |
benign |
NM_000209.4(PDX1):c.406+268C>G |
single nucleotide variant |
not provided [RCV000844016] |
Chr13:27920812 [GRCh38] Chr13:28494949 [GRCh37] Chr13:13q12.2 |
benign |
NM_000209.4(PDX1):c.683_699del (p.Ala228fs) |
deletion |
not provided [RCV000992181] |
Chr13:27924531..27924547 [GRCh38] Chr13:28498668..28498684 [GRCh37] Chr13:13q12.2 |
likely pathogenic |
NM_000209.4(PDX1):c.110A>T (p.Tyr37Phe) |
single nucleotide variant |
not provided [RCV000992180]|not specified [RCV002307649] |
Chr13:27920248 [GRCh38] Chr13:28494385 [GRCh37] Chr13:13q12.2 |
uncertain significance |
GRCh37/hg19 13q12.2(chr13:28083408-28591050)x3 |
copy number gain |
not provided [RCV001006554] |
Chr13:28083408..28591050 [GRCh37] Chr13:13q12.2 |
uncertain significance |
GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3 |
copy number gain |
not provided [RCV000849129] |
Chr13:19436286..115107733 [GRCh37] Chr13:13q11-34 |
pathogenic |
NM_000209.4(PDX1):c.429G>C (p.Pro143=) |
single nucleotide variant |
PDX1-related condition [RCV003895483]|not provided [RCV000899157] |
Chr13:27924278 [GRCh38] Chr13:28498415 [GRCh37] Chr13:13q12.2 |
likely benign |
NM_000209.4(PDX1):c.693C>T (p.Ser231=) |
single nucleotide variant |
PDX1-related condition [RCV003930741]|not provided [RCV000889088]|not specified [RCV001824903] |
Chr13:27924542 [GRCh38] Chr13:28498679 [GRCh37] Chr13:13q12.2 |
benign|likely benign |
NM_000209.4(PDX1):c.99T>C (p.Pro33=) |
single nucleotide variant |
not provided [RCV000932738] |
Chr13:27920237 [GRCh38] Chr13:28494374 [GRCh37] Chr13:13q12.2 |
likely benign |
NM_000209.4(PDX1):c.208G>A (p.Val70Met) |
single nucleotide variant |
Maturity-onset diabetes of the young type 4 [RCV003227922]|Monogenic diabetes [RCV001174444] |
Chr13:27920346 [GRCh38] Chr13:28494483 [GRCh37] Chr13:13q12.2 |
uncertain significance |
NM_000209.4(PDX1):c.455C>T (p.Ala152Val) |
single nucleotide variant |
Monogenic diabetes [RCV001174445]|not provided [RCV001873640] |
Chr13:27924304 [GRCh38] Chr13:28498441 [GRCh37] Chr13:13q12.2 |
uncertain significance |
NC_000013.11:g.27919720T>G |
single nucleotide variant |
not provided [RCV001620865] |
Chr13:27919720 [GRCh38] Chr13:28493857 [GRCh37] Chr13:13q12.2 |
benign |
NM_000209.4(PDX1):c.800C>T (p.Ala267Val) |
single nucleotide variant |
Pancreatic hypoplasia [RCV002464056] |
Chr13:27924649 [GRCh38] Chr13:28498786 [GRCh37] Chr13:13q12.2 |
uncertain significance |
NM_000209.4(PDX1):c.567C>A (p.His189Gln) |
single nucleotide variant |
not provided [RCV000995051] |
Chr13:27924416 [GRCh38] Chr13:28498553 [GRCh37] Chr13:13q12.2 |
uncertain significance |
NM_000209.4(PDX1):c.274C>T (p.Leu92Phe) |
single nucleotide variant |
Pancreatic hypoplasia [RCV002464049] |
Chr13:27920412 [GRCh38] Chr13:28494549 [GRCh37] Chr13:13q12.2 |
uncertain risk allele |
NM_000209.4(PDX1):c.463C>A (p.Arg155Ser) |
single nucleotide variant |
not provided [RCV001565102] |
Chr13:27924312 [GRCh38] Chr13:28498449 [GRCh37] Chr13:13q12.2 |
uncertain significance |
NM_000209.4(PDX1):c.127_128insGCCG (p.Pro43fs) |
insertion |
Monogenic diabetes [RCV001174447] |
Chr13:27920265..27920266 [GRCh38] Chr13:28494402..28494403 [GRCh37] Chr13:13q12.2 |
uncertain significance |
GRCh37/hg19 13q12.12-12.3(chr13:23775339-30534624)x3 |
copy number gain |
not provided [RCV001258538] |
Chr13:23775339..30534624 [GRCh37] Chr13:13q12.12-12.3 |
likely pathogenic |
GRCh37/hg19 13p13-q34(chr13:1-115169878) |
copy number gain |
Complete trisomy 13 syndrome [RCV002280659] |
Chr13:1..115169878 [GRCh37] Chr13:13p13-q34 |
pathogenic |
NM_000209.4(PDX1):c.694G>A (p.Gly232Ser) |
single nucleotide variant |
not provided [RCV001289060] |
Chr13:27924543 [GRCh38] Chr13:28498680 [GRCh37] Chr13:13q12.2 |
uncertain significance |
NM_000209.4(PDX1):c.663G>A (p.Ala221=) |
single nucleotide variant |
not specified [RCV001663765] |
Chr13:27924512 [GRCh38] Chr13:28498649 [GRCh37] Chr13:13q12.2 |
benign |
NM_000209.4(PDX1):c.837G>T (p.Pro279=) |
single nucleotide variant |
not provided [RCV001289061] |
Chr13:27924686 [GRCh38] Chr13:28498823 [GRCh37] Chr13:13q12.2 |
likely benign |
NM_000209.4(PDX1):c.-106del |
deletion |
not provided [RCV001536434] |
Chr13:27920030 [GRCh38] Chr13:28494167 [GRCh37] Chr13:13q12.2 |
benign |
NM_000209.4(PDX1):c.211C>A (p.Pro71Thr) |
single nucleotide variant |
Maturity-onset diabetes of the young type 4 [RCV002499697]|PDX1-related condition [RCV003393992]|not provided [RCV001347094] |
Chr13:27920349 [GRCh38] Chr13:28494486 [GRCh37] Chr13:13q12.2 |
uncertain significance |
NM_000209.4(PDX1):c.474G>T (p.Leu158=) |
single nucleotide variant |
not provided [RCV001289058] |
Chr13:27924323 [GRCh38] Chr13:28498460 [GRCh37] Chr13:13q12.2 |
uncertain significance |
NM_000209.4(PDX1):c.-86G>T |
single nucleotide variant |
not provided [RCV001588388] |
Chr13:27920053 [GRCh38] Chr13:28494190 [GRCh37] Chr13:13q12.2 |
likely benign |
NM_000209.4(PDX1):c.407-128C>G |
single nucleotide variant |
not provided [RCV001687895] |
Chr13:27924128 [GRCh38] Chr13:28498265 [GRCh37] Chr13:13q12.2 |
benign |
NM_000209.4(PDX1):c.485A>C (p.Glu162Ala) |
single nucleotide variant |
not provided [RCV001758142] |
Chr13:27924334 [GRCh38] Chr13:28498471 [GRCh37] Chr13:13q12.2 |
uncertain significance |
NM_000209.4(PDX1):c.681C>A (p.Cys227Ter) |
single nucleotide variant |
PDX1-Related Disorder [RCV001825020]|not provided [RCV001751876] |
Chr13:27924530 [GRCh38] Chr13:28498667 [GRCh37] Chr13:13q12.2 |
uncertain significance|not provided |
GRCh37/hg19 13p13-q34(chr13:1-115169878)x3 |
copy number gain |
See cases [RCV001780076] |
Chr13:1..115169878 [GRCh37] Chr13:13p13-q34 |
pathogenic |
NM_000209.4(PDX1):c.349C>A (p.Leu117Met) |
single nucleotide variant |
not provided [RCV003728038]|not specified [RCV001817678] |
Chr13:27920487 [GRCh38] Chr13:28494624 [GRCh37] Chr13:13q12.2 |
uncertain significance |
NM_000209.4(PDX1):c.101C>T (p.Ala34Val) |
single nucleotide variant |
not provided [RCV003728021]|not specified [RCV001817577] |
Chr13:27920239 [GRCh38] Chr13:28494376 [GRCh37] Chr13:13q12.2 |
uncertain significance |
NM_000209.4(PDX1):c.620A>G (p.Lys207Arg) |
single nucleotide variant |
not specified [RCV001819163] |
Chr13:27924469 [GRCh38] Chr13:28498606 [GRCh37] Chr13:13q12.2 |
uncertain significance |
NM_000209.4(PDX1):c.489G>A (p.Lys163=) |
single nucleotide variant |
not specified [RCV001819320] |
Chr13:27924338 [GRCh38] Chr13:28498475 [GRCh37] Chr13:13q12.2 |
uncertain significance |
NM_000209.4(PDX1):c.191A>G (p.Asp64Gly) |
single nucleotide variant |
not provided [RCV001896766] |
Chr13:27920329 [GRCh38] Chr13:28494466 [GRCh37] Chr13:13q12.2 |
uncertain significance |
GRCh37/hg19 13q11-34(chr13:19436286-114981726) |
copy number gain |
not specified [RCV002053035] |
Chr13:19436286..114981726 [GRCh37] Chr13:13q11-34 |
pathogenic |
NM_000209.4(PDX1):c.296C>A (p.Pro99His) |
single nucleotide variant |
Maturity-onset diabetes of the young type 4 [RCV002490245]|not provided [RCV001909803] |
Chr13:27920434 [GRCh38] Chr13:28494571 [GRCh37] Chr13:13q12.2 |
uncertain significance |
NM_000209.4(PDX1):c.282C>G (p.His94Gln) |
single nucleotide variant |
Maturity-onset diabetes of the young type 4 [RCV001823572] |
Chr13:27920420 [GRCh38] Chr13:28494557 [GRCh37] Chr13:13q12.2 |
uncertain significance |
NM_000209.4(PDX1):c.107T>G (p.Leu36Arg) |
single nucleotide variant |
Maturity-onset diabetes of the young type 4 [RCV002468380]|not provided [RCV002020957] |
Chr13:27920245 [GRCh38] Chr13:28494382 [GRCh37] Chr13:13q12.2 |
uncertain significance |
GRCh37/hg19 13q11-34(chr13:19436286-115107733) |
copy number gain |
not specified [RCV002053036] |
Chr13:19436286..115107733 [GRCh37] Chr13:13q11-34 |
pathogenic |
GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3 |
copy number gain |
not provided [RCV001834436] |
Chr13:19436286..115107733 [GRCh37] Chr13:13q11-34 |
pathogenic |
NM_000209.4(PDX1):c.646G>C (p.Gly216Arg) |
single nucleotide variant |
not provided [RCV002038623] |
Chr13:27924495 [GRCh38] Chr13:28498632 [GRCh37] Chr13:13q12.2 |
uncertain significance |
NM_000209.4(PDX1):c.239C>T (p.Ala80Val) |
single nucleotide variant |
not provided [RCV002035645] |
Chr13:27920377 [GRCh38] Chr13:28494514 [GRCh37] Chr13:13q12.2 |
uncertain significance |
NM_000209.4(PDX1):c.651del (p.Gly218fs) |
deletion |
Maturity-onset diabetes of the young type 4 [RCV003446962]|not provided [RCV001936814] |
Chr13:27924500 [GRCh38] Chr13:28498637 [GRCh37] Chr13:13q12.2 |
likely pathogenic|uncertain significance |
NM_000209.4(PDX1):c.47A>T (p.Asp16Val) |
single nucleotide variant |
not provided [RCV001998863] |
Chr13:27920185 [GRCh38] Chr13:28494322 [GRCh37] Chr13:13q12.2 |
uncertain significance |
NM_000209.4(PDX1):c.98C>A (p.Pro33His) |
single nucleotide variant |
Maturity-onset diabetes of the young type 4 [RCV002503590]|not provided [RCV001932971] |
Chr13:27920236 [GRCh38] Chr13:28494373 [GRCh37] Chr13:13q12.2 |
uncertain significance |
NM_000209.4(PDX1):c.731C>G (p.Pro244Arg) |
single nucleotide variant |
not provided [RCV002035192] |
Chr13:27924580 [GRCh38] Chr13:28498717 [GRCh37] Chr13:13q12.2 |
uncertain significance |
NM_000209.4(PDX1):c.841G>C (p.Glu281Gln) |
single nucleotide variant |
Maturity-onset diabetes of the young type 4 [RCV002507028]|not provided [RCV001939962] |
Chr13:27924690 [GRCh38] Chr13:28498827 [GRCh37] Chr13:13q12.2 |
uncertain significance |
NM_000209.4(PDX1):c.779G>A (p.Arg260His) |
single nucleotide variant |
not provided [RCV001918255] |
Chr13:27924628 [GRCh38] Chr13:28498765 [GRCh37] Chr13:13q12.2 |
uncertain significance |
NM_000209.4(PDX1):c.769C>T (p.Arg257Ter) |
single nucleotide variant |
Maturity-onset diabetes of the young type 4 [RCV002211058] |
Chr13:27924618 [GRCh38] Chr13:28498755 [GRCh37] Chr13:13q12.2 |
uncertain significance |
NM_000209.4(PDX1):c.498A>G (p.Leu166=) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002337253]|Maturity-onset diabetes of the young type 4 [RCV002494156]|PDX1-related condition [RCV003923555]|not provided [RCV002087882] |
Chr13:27924347 [GRCh38] Chr13:28498484 [GRCh37] Chr13:13q12.2 |
likely benign |
NM_000209.4(PDX1):c.164G>A (p.Gly55Asp) |
single nucleotide variant |
Maturity-onset diabetes of the young type 4 [RCV003329123]|not provided [RCV002226082] |
Chr13:27920302 [GRCh38] Chr13:28494439 [GRCh37] Chr13:13q12.2 |
likely benign|conflicting interpretations of pathogenicity |
NM_000209.4(PDX1):c.134C>G (p.Pro45Arg) |
single nucleotide variant |
not provided [RCV002278889] |
Chr13:27920272 [GRCh38] Chr13:28494409 [GRCh37] Chr13:13q12.2 |
uncertain significance |
NM_000209.4(PDX1):c.488A>G (p.Lys163Arg) |
single nucleotide variant |
PDX1-Related Disorders [RCV003236383] |
Chr13:27924337 [GRCh38] Chr13:28498474 [GRCh37] Chr13:13q12.2 |
likely pathogenic |
NM_000209.4(PDX1):c.664G>A (p.Glu222Lys) |
single nucleotide variant |
not provided [RCV002288208] |
Chr13:27924513 [GRCh38] Chr13:28498650 [GRCh37] Chr13:13q12.2 |
uncertain significance |
GRCh37/hg19 13q11-34(chr13:19253848-115108937)x3 |
copy number gain |
not provided [RCV002291540] |
Chr13:19253848..115108937 [GRCh37] Chr13:13q11-34 |
pathogenic |
NM_000209.4(PDX1):c.677A>C (p.Asp226Ala) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002369344] |
Chr13:27924526 [GRCh38] Chr13:28498663 [GRCh37] Chr13:13q12.2 |
uncertain significance |
NM_000209.4(PDX1):c.258C>T (p.Leu86=) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002437092] |
Chr13:27920396 [GRCh38] Chr13:28494533 [GRCh37] Chr13:13q12.2 |
likely benign |
NM_000209.4(PDX1):c.816C>T (p.Ser272=) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002421474] |
Chr13:27924665 [GRCh38] Chr13:28498802 [GRCh37] Chr13:13q12.2 |
likely benign |
NM_000209.4(PDX1):c.671_672dup (p.Gln225fs) |
duplication |
Maturity onset diabetes mellitus in young [RCV002367211] |
Chr13:27924518..27924519 [GRCh38] Chr13:28498655..28498656 [GRCh37] Chr13:13q12.2 |
likely pathogenic |
NM_000209.4(PDX1):c.708G>C (p.Leu236=) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002367276] |
Chr13:27924557 [GRCh38] Chr13:28498694 [GRCh37] Chr13:13q12.2 |
likely benign |
NM_000209.4(PDX1):c.288C>G (p.Pro96=) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002437893] |
Chr13:27920426 [GRCh38] Chr13:28494563 [GRCh37] Chr13:13q12.2 |
likely benign |
NM_000209.4(PDX1):c.284C>A (p.Pro95Gln) |
single nucleotide variant |
not provided [RCV003149404] |
Chr13:27920422 [GRCh38] Chr13:28494559 [GRCh37] Chr13:13q12.2 |
uncertain significance |
NM_000209.4(PDX1):c.124C>T (p.Pro42Ser) |
single nucleotide variant |
Pancreatic hypoplasia [RCV002464048] |
Chr13:27920262 [GRCh38] Chr13:28494399 [GRCh37] Chr13:13q12.2 |
uncertain risk allele |
NM_000209.4(PDX1):c.395G>A (p.Gly132Asp) |
single nucleotide variant |
Pancreatic hypoplasia [RCV002464050] |
Chr13:27920533 [GRCh38] Chr13:28494670 [GRCh37] Chr13:13q12.2 |
uncertain risk allele |
NM_000209.4(PDX1):c.279C>T (p.Pro93=) |
single nucleotide variant |
not provided [RCV002475249] |
Chr13:27920417 [GRCh38] Chr13:28494554 [GRCh37] Chr13:13q12.2 |
uncertain significance |
NM_000209.4(PDX1):c.102G>A (p.Ala34=) |
single nucleotide variant |
not provided [RCV002475250] |
Chr13:27920240 [GRCh38] Chr13:28494377 [GRCh37] Chr13:13q12.2 |
uncertain significance |
NM_000209.4(PDX1):c.77C>T (p.Pro26Leu) |
single nucleotide variant |
Pancreatic hypoplasia [RCV002463991] |
Chr13:27920215 [GRCh38] Chr13:28494352 [GRCh37] Chr13:13q12.2 |
uncertain significance |
NM_000209.4(PDX1):c.82T>G (p.Phe28Val) |
single nucleotide variant |
Pancreatic hypoplasia [RCV002463992] |
Chr13:27920220 [GRCh38] Chr13:28494357 [GRCh37] Chr13:13q12.2 |
uncertain risk allele |
NM_000209.4(PDX1):c.825G>C (p.Ala275=) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002430185]|not provided [RCV003738227] |
Chr13:27924674 [GRCh38] Chr13:28498811 [GRCh37] Chr13:13q12.2 |
likely benign |
NM_000209.4(PDX1):c.217del (p.Leu73fs) |
deletion |
Maturity onset diabetes mellitus in young [RCV002432874]|not provided [RCV003098692] |
Chr13:27920349 [GRCh38] Chr13:28494486 [GRCh37] Chr13:13q12.2 |
likely pathogenic|uncertain significance |
NM_000209.4(PDX1):c.694_697delinsAGCT (p.Gly232_Glu233delinsSerTer) |
indel |
not provided [RCV003233142] |
Chr13:27924543..27924546 [GRCh38] Chr13:28498680..28498683 [GRCh37] Chr13:13q12.2 |
uncertain significance |
NM_000209.4(PDX1):c.593G>T (p.Arg198Leu) |
single nucleotide variant |
Maturity-onset diabetes of the young type 4 [RCV002308488]|not provided [RCV003099104] |
Chr13:27924442 [GRCh38] Chr13:28498579 [GRCh37] Chr13:13q12.2 |
uncertain significance |
NM_000209.4(PDX1):c.231C>T (p.Pro77=) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002457556] |
Chr13:27920369 [GRCh38] Chr13:28494506 [GRCh37] Chr13:13q12.2 |
likely benign |
NM_000209.4(PDX1):c.234G>T (p.Ala78=) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002448389] |
Chr13:27920372 [GRCh38] Chr13:28494509 [GRCh37] Chr13:13q12.2 |
likely benign |
NM_000209.4(PDX1):c.569T>C (p.Ile190Thr) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002347538] |
Chr13:27924418 [GRCh38] Chr13:28498555 [GRCh37] Chr13:13q12.2 |
uncertain significance |
NM_000209.4(PDX1):c.693C>G (p.Ser231=) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV003340536]|PDX1-related condition [RCV003961127]|not provided [RCV002756253] |
Chr13:27924542 [GRCh38] Chr13:28498679 [GRCh37] Chr13:13q12.2 |
likely benign |
NM_000209.4(PDX1):c.528G>T (p.Arg176=) |
single nucleotide variant |
not provided [RCV002754961] |
Chr13:27924377 [GRCh38] Chr13:28498514 [GRCh37] Chr13:13q12.2 |
likely benign |
NM_000209.4(PDX1):c.57G>C (p.Ala19=) |
single nucleotide variant |
not provided [RCV002705666] |
Chr13:27920195 [GRCh38] Chr13:28494332 [GRCh37] Chr13:13q12.2 |
likely benign |
NM_000209.4(PDX1):c.759C>T (p.Pro253=) |
single nucleotide variant |
not provided [RCV002596777] |
Chr13:27924608 [GRCh38] Chr13:28498745 [GRCh37] Chr13:13q12.2 |
likely benign |
NM_000209.4(PDX1):c.97C>T (p.Pro33Ser) |
single nucleotide variant |
not provided [RCV002573844]|not specified [RCV003331374] |
Chr13:27920235 [GRCh38] Chr13:28494372 [GRCh37] Chr13:13q12.2 |
uncertain significance |
NM_000209.4(PDX1):c.184C>T (p.Pro62Ser) |
single nucleotide variant |
not provided [RCV003007714] |
Chr13:27920322 [GRCh38] Chr13:28494459 [GRCh37] Chr13:13q12.2 |
uncertain significance |
NM_000209.4(PDX1):c.117C>T (p.Gly39=) |
single nucleotide variant |
not provided [RCV002667206] |
Chr13:27920255 [GRCh38] Chr13:28494392 [GRCh37] Chr13:13q12.2 |
likely benign |
NM_000209.4(PDX1):c.757C>T (p.Pro253Ser) |
single nucleotide variant |
not provided [RCV003049433] |
Chr13:27924606 [GRCh38] Chr13:28498743 [GRCh37] Chr13:13q12.2 |
uncertain significance |
NM_000209.4(PDX1):c.92G>A (p.Ser31Asn) |
single nucleotide variant |
not provided [RCV003090408] |
Chr13:27920230 [GRCh38] Chr13:28494367 [GRCh37] Chr13:13q12.2 |
uncertain significance |
NM_000209.4(PDX1):c.428C>G (p.Pro143Arg) |
single nucleotide variant |
PDX1-related condition [RCV003420332]|not provided [RCV003088086] |
Chr13:27924277 [GRCh38] Chr13:28498414 [GRCh37] Chr13:13q12.2 |
uncertain significance |
NM_000209.4(PDX1):c.229C>T (p.Pro77Ser) |
single nucleotide variant |
not provided [RCV002635159] |
Chr13:27920367 [GRCh38] Chr13:28494504 [GRCh37] Chr13:13q12.2 |
likely benign |
NM_000209.4(PDX1):c.723G>A (p.Pro241=) |
single nucleotide variant |
not provided [RCV002606974] |
Chr13:27924572 [GRCh38] Chr13:28498709 [GRCh37] Chr13:13q12.2 |
likely benign |
NM_000209.4(PDX1):c.128CGC[6] (p.Pro47_His48insPro) |
microsatellite |
Maturity onset diabetes mellitus in young [RCV003294641]|not provided [RCV003142662] |
Chr13:27920264..27920265 [GRCh38] Chr13:28494401..28494402 [GRCh37] Chr13:13q12.2 |
likely benign|uncertain significance |
NM_000209.4(PDX1):c.190G>T (p.Asp64Tyr) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV003187855] |
Chr13:27920328 [GRCh38] Chr13:28494465 [GRCh37] Chr13:13q12.2 |
uncertain significance |
NM_000209.4(PDX1):c.363G>T (p.Trp121Cys) |
single nucleotide variant |
Maturity-onset diabetes of the young type 4 [RCV003329144] |
Chr13:27920501 [GRCh38] Chr13:28494638 [GRCh37] Chr13:13q12.2 |
uncertain significance |
NM_000209.4(PDX1):c.641C>T (p.Ala214Val) |
single nucleotide variant |
PDX1-related condition [RCV003397276] |
Chr13:27924490 [GRCh38] Chr13:28498627 [GRCh37] Chr13:13q12.2 |
uncertain significance |
NM_000209.4(PDX1):c.707del (p.Leu236fs) |
deletion |
not provided [RCV003325830] |
Chr13:27924556 [GRCh38] Chr13:28498693 [GRCh37] Chr13:13q12.2 |
uncertain significance |
NM_000209.4(PDX1):c.653del (p.Gly218fs) |
deletion |
PDX1-related condition [RCV003419102] |
Chr13:27924501 [GRCh38] Chr13:28498638 [GRCh37] Chr13:13q12.2 |
likely pathogenic |
NM_000209.4(PDX1):c.735dup (p.Gly246fs) |
duplication |
Maturity-onset diabetes of the young type 4 [RCV003444069] |
Chr13:27924583..27924584 [GRCh38] Chr13:28498720..28498721 [GRCh37] Chr13:13q12.2 |
likely pathogenic |
NM_000209.4(PDX1):c.634G>A (p.Gly212Arg) |
single nucleotide variant |
PDX1-related condition [RCV003410398] |
Chr13:27924483 [GRCh38] Chr13:28498620 [GRCh37] Chr13:13q12.2 |
uncertain significance |
NM_000209.4(PDX1):c.527G>A (p.Arg176Gln) |
single nucleotide variant |
PDX1-related condition [RCV003410816] |
Chr13:27924376 [GRCh38] Chr13:28498513 [GRCh37] Chr13:13q12.2 |
uncertain significance |
NM_000209.4(PDX1):c.448C>T (p.Arg150Cys) |
single nucleotide variant |
PDX1-related condition [RCV003402586] |
Chr13:27924297 [GRCh38] Chr13:28498434 [GRCh37] Chr13:13q12.2 |
uncertain significance |
NM_000209.4(PDX1):c.206A>G (p.Glu69Gly) |
single nucleotide variant |
PDX1-related condition [RCV003402556] |
Chr13:27920344 [GRCh38] Chr13:28494481 [GRCh37] Chr13:13q12.2 |
uncertain significance |
NM_000209.4(PDX1):c.655G>A (p.Gly219Arg) |
single nucleotide variant |
not provided [RCV003545857] |
Chr13:27924504 [GRCh38] Chr13:28498641 [GRCh37] Chr13:13q12.2 |
uncertain significance |
NM_000209.4(PDX1):c.140C>T (p.Pro47Leu) |
single nucleotide variant |
not provided [RCV003663123] |
Chr13:27920278 [GRCh38] Chr13:28494415 [GRCh37] Chr13:13q12.2 |
uncertain significance |
NM_000209.4(PDX1):c.715_716insGGC (p.Leu238_Pro239insArg) |
insertion |
not provided [RCV003693842] |
Chr13:27924562..27924563 [GRCh38] Chr13:28498699..28498700 [GRCh37] Chr13:13q12.2 |
uncertain significance |
NM_000209.4(PDX1):c.587A>C (p.Asn196Thr) |
single nucleotide variant |
not provided [RCV003687612] |
Chr13:27924436 [GRCh38] Chr13:28498573 [GRCh37] Chr13:13q12.2 |
uncertain significance |
NM_000209.4(PDX1):c.175C>A (p.Gln59Lys) |
single nucleotide variant |
not provided [RCV003714520] |
Chr13:27920313 [GRCh38] Chr13:28494450 [GRCh37] Chr13:13q12.2 |
uncertain significance |
NM_000209.4(PDX1):c.592C>A (p.Arg198Ser) |
single nucleotide variant |
not provided [RCV003687610] |
Chr13:27924441 [GRCh38] Chr13:28498578 [GRCh37] Chr13:13q12.2 |
uncertain significance |
NM_000209.4(PDX1):c.522G>A (p.Pro174=) |
single nucleotide variant |
not provided [RCV003696776] |
Chr13:27924371 [GRCh38] Chr13:28498508 [GRCh37] Chr13:13q12.2 |
likely benign |
NM_000209.4(PDX1):c.62A>T (p.Gln21Leu) |
single nucleotide variant |
not provided [RCV003670912] |
Chr13:27920200 [GRCh38] Chr13:28494337 [GRCh37] Chr13:13q12.2 |
uncertain significance |
NM_000209.4(PDX1):c.534G>T (p.Glu178Asp) |
single nucleotide variant |
not provided [RCV003666735] |
Chr13:27924383 [GRCh38] Chr13:28498520 [GRCh37] Chr13:13q12.2 |
uncertain significance |
NM_000209.4(PDX1):c.217C>G (p.Leu73Val) |
single nucleotide variant |
not provided [RCV003834266] |
Chr13:27920355 [GRCh38] Chr13:28494492 [GRCh37] Chr13:13q12.2 |
uncertain significance |
NM_000209.4(PDX1):c.318G>A (p.Pro106=) |
single nucleotide variant |
not provided [RCV003705248] |
Chr13:27920456 [GRCh38] Chr13:28494593 [GRCh37] Chr13:13q12.2 |
likely benign |
NM_000209.4(PDX1):c.112A>T (p.Met38Leu) |
single nucleotide variant |
not provided [RCV003734352] |
Chr13:27920250 [GRCh38] Chr13:28494387 [GRCh37] Chr13:13q12.2 |
uncertain significance |
NM_000209.4(PDX1):c.738T>C (p.Gly246=) |
single nucleotide variant |
not provided [RCV003861556] |
Chr13:27924587 [GRCh38] Chr13:28498724 [GRCh37] Chr13:13q12.2 |
likely benign |
GRCh37/hg19 13q12.12-12.2(chr13:23329180-28663294)x3 |
copy number gain |
not specified [RCV003987034] |
Chr13:23329180..28663294 [GRCh37] Chr13:13q12.12-12.2 |
uncertain significance |
NM_000209.4(PDX1):c.558C>G (p.Thr186=) |
single nucleotide variant |
not provided [RCV003842627] |
Chr13:27924407 [GRCh38] Chr13:28498544 [GRCh37] Chr13:13q12.2 |
likely benign |
NM_000209.4(PDX1):c.407-19C>A |
single nucleotide variant |
not provided [RCV003847212] |
Chr13:27924237 [GRCh38] Chr13:28498374 [GRCh37] Chr13:13q12.2 |
likely benign |
NM_000209.4(PDX1):c.378A>C (p.Lys126Asn) |
single nucleotide variant |
not provided [RCV003679395] |
Chr13:27920516 [GRCh38] Chr13:28494653 [GRCh37] Chr13:13q12.2 |
uncertain significance |
NM_000209.4(PDX1):c.165C>T (p.Gly55=) |
single nucleotide variant |
PDX1-related condition [RCV003981799] |
Chr13:27920303 [GRCh38] Chr13:28494440 [GRCh37] Chr13:13q12.2 |
likely benign |
NM_000209.4(PDX1):c.-35_-22del |
deletion |
PDX1-related condition [RCV003901491] |
Chr13:27920104..27920117 [GRCh38] Chr13:28494241..28494254 [GRCh37] Chr13:13q12.2 |
uncertain significance |
NM_000209.4(PDX1):c.-25C>T |
single nucleotide variant |
PDX1-related condition [RCV003962211] |
Chr13:27920114 [GRCh38] Chr13:28494251 [GRCh37] Chr13:13q12.2 |
likely benign |
NM_000209.4(PDX1):c.636G>C (p.Gly212=) |
single nucleotide variant |
PDX1-related condition [RCV003969512] |
Chr13:27924485 [GRCh38] Chr13:28498622 [GRCh37] Chr13:13q12.2 |
likely benign |
NM_000209.4(PDX1):c.495C>T (p.Phe165=) |
single nucleotide variant |
PDX1-related condition [RCV003904708] |
Chr13:27924344 [GRCh38] Chr13:28498481 [GRCh37] Chr13:13q12.2 |
likely benign |
NM_000209.4(PDX1):c.300C>T (p.Phe100=) |
single nucleotide variant |
PDX1-related condition [RCV003894672] |
Chr13:27920438 [GRCh38] Chr13:28494575 [GRCh37] Chr13:13q12.2 |
likely benign |
NM_000209.4(PDX1):c.786G>T (p.Pro262=) |
single nucleotide variant |
PDX1-related condition [RCV003934503] |
Chr13:27924635 [GRCh38] Chr13:28498772 [GRCh37] Chr13:13q12.2 |
likely benign |