CBR4 (carbonyl reductase 4) - Rat Genome Database

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Gene: CBR4 (carbonyl reductase 4) Homo sapiens
Analyze
Symbol: CBR4
Name: carbonyl reductase 4
RGD ID: 1602997
HGNC Page HGNC:25891
Description: Enables several functions, including 3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity; NADPH binding activity; and NADPH dehydrogenase (quinone) activity. Involved in several processes, including daunorubicin metabolic process; doxorubicin metabolic process; and protein tetramerization. Located in mitochondrial matrix. Part of oxidoreductase complex.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: 3-ketoacyl-[acyl-carrier-protein] reductase beta subunit; 3-oxoacyl-[acyl-carrier-protein] reductase; carbonic reductase 4; carbonyl reductase family member 4; FLJ14431; KAR beta subunit; quinone reductase CBR4; SDR45C1; short chain dehydrogenase/reductase family 45C member 1; short chain dehydrogenase/reductase family 45C, member 1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh384168,894,486 - 169,010,255 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl4168,863,770 - 169,010,275 (-)EnsemblGRCh38hg38GRCh38
GRCh374169,908,741 - 169,931,406 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 364170,145,316 - 170,167,997 (-)NCBINCBI36Build 36hg18NCBI36
Celera4167,240,084 - 167,262,804 (-)NCBICelera
Cytogenetic Map4q32.3NCBI
HuRef4165,662,191 - 165,684,917 (-)NCBIHuRef
CHM1_14169,885,180 - 169,907,907 (-)NCBICHM1_1
T2T-CHM13v2.04172,254,054 - 172,369,681 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
mitochondrial matrix  (IDA,IEA,TAS)
mitochondrion  (HTP,IEA)
oxidoreductase complex  (IDA,IMP)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:12477932   PMID:14702039   PMID:16344560   PMID:17207965   PMID:19000905   PMID:19027726   PMID:19322201   PMID:19571038   PMID:20837989   PMID:20877624   PMID:21873635   PMID:25203508  
PMID:26058080   PMID:26186194   PMID:26549023   PMID:28380382   PMID:28514442   PMID:29117863   PMID:31343991   PMID:32296183   PMID:32513696   PMID:33961781   PMID:34800366   PMID:35156780  
PMID:35271311   PMID:35944360   PMID:37314216  


Genomics

Comparative Map Data
CBR4
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh384168,894,486 - 169,010,255 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl4168,863,770 - 169,010,275 (-)EnsemblGRCh38hg38GRCh38
GRCh374169,908,741 - 169,931,406 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 364170,145,316 - 170,167,997 (-)NCBINCBI36Build 36hg18NCBI36
Celera4167,240,084 - 167,262,804 (-)NCBICelera
Cytogenetic Map4q32.3NCBI
HuRef4165,662,191 - 165,684,917 (-)NCBIHuRef
CHM1_14169,885,180 - 169,907,907 (-)NCBICHM1_1
T2T-CHM13v2.04172,254,054 - 172,369,681 (-)NCBIT2T-CHM13v2.0
Cbr4
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39861,940,768 - 61,956,534 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl861,940,768 - 61,959,728 (+)EnsemblGRCm39 Ensembl
GRCm38861,487,734 - 61,503,500 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl861,487,734 - 61,506,694 (+)EnsemblGRCm38mm10GRCm38
MGSCv37863,966,531 - 63,982,297 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36864,379,926 - 64,395,624 (+)NCBIMGSCv36mm8
MGSCv36860,656,117 - 60,671,212 (+)NCBIMGSCv36mm8
Celera864,050,917 - 64,066,676 (+)NCBICelera
Cytogenetic Map8B3.1NCBI
cM Map831.18NCBI
Cbr4
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81633,625,734 - 33,695,067 (-)NCBIGRCr8
mRatBN7.21628,629,928 - 28,684,230 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1628,617,224 - 28,645,712 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1632,224,831 - 32,240,582 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01635,658,872 - 35,674,623 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01631,860,531 - 31,876,269 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01631,944,328 - 31,972,553 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1631,956,753 - 31,972,507 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01631,794,520 - 31,810,263 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41631,943,125 - 31,957,556 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11631,943,200 - 31,957,630 (-)NCBI
Celera1628,625,441 - 28,641,135 (-)NCBICelera
Cytogenetic Map16p12NCBI
Cbr4
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540337,206,634 - 37,226,407 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495540337,201,474 - 37,226,414 (+)NCBIChiLan1.0ChiLan1.0
CBR4
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v23166,663,224 - 166,794,172 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan14167,015,483 - 167,149,427 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v04161,103,477 - 161,235,840 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.14173,182,755 - 173,309,905 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl4173,282,162 - 173,309,905 (-)Ensemblpanpan1.1panPan2
CBR4
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12519,475,562 - 19,618,144 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2519,597,518 - 19,618,180 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2519,566,496 - 19,649,192 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02519,673,638 - 19,756,294 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2519,734,924 - 19,756,246 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12519,541,290 - 19,623,984 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02519,541,898 - 19,624,490 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02519,604,132 - 19,686,873 (-)NCBIUU_Cfam_GSD_1.0
Cbr4
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494320,768,596 - 20,791,385 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365161,181,524 - 1,205,760 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365161,184,859 - 1,205,668 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CBR4
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1420,621,981 - 20,682,240 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11420,621,960 - 20,642,351 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21421,908,782 - 21,929,179 (+)NCBISscrofa10.2Sscrofa10.2susScr3
CBR4
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.17115,223,813 - 115,246,925 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl7115,223,386 - 115,246,818 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603795,082,408 - 95,160,389 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Cbr4
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624769581,800 - 604,075 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624769564,148 - 603,402 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in CBR4
660 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_032783.5(CBR4):c.163T>G (p.Cys55Gly) single nucleotide variant not specified [RCV004106857] Chr4:169007736 [GRCh38]
Chr4:169928887 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.3087T>A (p.Phe1029Leu) single nucleotide variant Pancreatic adenocarcinoma [RCV000545496]|not specified [RCV004024366] Chr4:168924283 [GRCh38]
Chr4:169845434 [GRCh37]
Chr4:4q32.3
likely benign|uncertain significance
NM_001166108.2(PALLD):c.3351C>T (p.Asp1117=) single nucleotide variant Pancreatic adenocarcinoma [RCV000545839]|not specified [RCV004024368] Chr4:168925071 [GRCh38]
Chr4:169846222 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.2695T>A (p.Ser899Thr) single nucleotide variant Pancreatic adenocarcinoma [RCV000544307]|not provided [RCV004691911]|not specified [RCV004024365] Chr4:168913999 [GRCh38]
Chr4:169835150 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2980C>T (p.Arg994Cys) single nucleotide variant Pancreatic adenocarcinoma [RCV000552177] Chr4:168921663 [GRCh38]
Chr4:169842814 [GRCh37]
Chr4:4q32.3
uncertain significance
GRCh38/hg38 4q32.2-35.2(chr4:162013220-189975519)x3 copy number gain See cases [RCV000050649] Chr4:162013220..189975519 [GRCh38]
Chr4:162934372..190828225 [GRCh37]
Chr4:163153822..191133668 [NCBI36]
Chr4:4q32.2-35.2
pathogenic
GRCh38/hg38 4q26-35.2(chr4:118065569-190042639)x3 copy number gain See cases [RCV000051785] Chr4:118065569..190042639 [GRCh38]
Chr4:118986724..190828225 [GRCh37]
Chr4:119206172..191200788 [NCBI36]
Chr4:4q26-35.2
pathogenic
GRCh38/hg38 4q27-35.2(chr4:121518223-190062270)x3 copy number gain See cases [RCV000051786] Chr4:121518223..190062270 [GRCh38]
Chr4:122439378..190828225 [GRCh37]
Chr4:122658828..191220419 [NCBI36]
Chr4:4q27-35.2
pathogenic
GRCh38/hg38 4q31.22-34.1(chr4:147317283-173675559)x3 copy number gain See cases [RCV000051788] Chr4:147317283..173675559 [GRCh38]
Chr4:148238435..174596710 [GRCh37]
Chr4:148457885..174833285 [NCBI36]
Chr4:4q31.22-34.1
pathogenic
GRCh38/hg38 4q31.23-35.2(chr4:148356485-189548183)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051789]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051789]|See cases [RCV000051789] Chr4:148356485..189548183 [GRCh38]
Chr4:149277637..190469337 [GRCh37]
Chr4:149497087..190706331 [NCBI36]
Chr4:4q31.23-35.2
pathogenic
GRCh38/hg38 4q32.3-35.2(chr4:167218288-189975519)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051792]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051792]|See cases [RCV000051792] Chr4:167218288..189975519 [GRCh38]
Chr4:168139439..190828225 [GRCh37]
Chr4:168376014..191133668 [NCBI36]
Chr4:4q32.3-35.2
pathogenic
GRCh38/hg38 4q32.1-35.2(chr4:158568335-189975660)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053325]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053325]|See cases [RCV000053325] Chr4:158568335..189975660 [GRCh38]
Chr4:159489487..190828225 [GRCh37]
Chr4:159708937..191133809 [NCBI36]
Chr4:4q32.1-35.2
pathogenic
GRCh38/hg38 4q32.2-34.1(chr4:162723818-172501433)x1 copy number loss See cases [RCV000053326] Chr4:162723818..172501433 [GRCh38]
Chr4:163644970..173422584 [GRCh37]
Chr4:163864420..173659159 [NCBI36]
Chr4:4q32.2-34.1
pathogenic
GRCh38/hg38 4q32.3-35.2(chr4:163651681-189975519)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053327]|See cases [RCV000053327] Chr4:163651681..189975519 [GRCh38]
Chr4:164572833..190828225 [GRCh37]
Chr4:164792283..191133668 [NCBI36]
Chr4:4q32.3-35.2
pathogenic
GRCh38/hg38 4q32.3-35.2(chr4:164039530-189982708)x1 copy number loss See cases [RCV000053347] Chr4:164039530..189982708 [GRCh38]
Chr4:164960682..190828225 [GRCh37]
Chr4:165180132..191140857 [NCBI36]
Chr4:4q32.3-35.2
pathogenic
GRCh38/hg38 4q32.3-34.1(chr4:167851017-172200428)x1 copy number loss See cases [RCV000053348] Chr4:167851017..172200428 [GRCh38]
Chr4:168772168..173121579 [GRCh37]
Chr4:169008743..173358154 [NCBI36]
Chr4:4q32.3-34.1
pathogenic
NM_001166108.2(PALLD):c.2293A>T (p.Ile765Leu) single nucleotide variant not provided [RCV000116046] Chr4:168898535 [GRCh38]
Chr4:169819686 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2356G>A (p.Val786Met) single nucleotide variant Pancreatic adenocarcinoma [RCV000205580]|not provided [RCV000116047] Chr4:168898598 [GRCh38]
Chr4:169819749 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2527A>G (p.Ile843Val) single nucleotide variant Pancreatic adenocarcinoma [RCV001854560]|not provided [RCV000116048]|not specified [RCV004658968] Chr4:168903811 [GRCh38]
Chr4:169824962 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2581G>C (p.Asp861His) single nucleotide variant not provided [RCV000116049] Chr4:168903865 [GRCh38]
Chr4:169825016 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2651T>C (p.Met884Thr) single nucleotide variant Pancreatic adenocarcinoma [RCV000531519]|not provided [RCV000116050]|not specified [RCV004019617] Chr4:168913955 [GRCh38]
Chr4:169835106 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2905C>T (p.Arg969Cys) single nucleotide variant Pancreatic adenocarcinoma [RCV001339599] Chr4:168921588 [GRCh38]
Chr4:169842739 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.3264T>G (p.Ile1088Met) single nucleotide variant not provided [RCV000116052]|not specified [RCV004019618] Chr4:168924984 [GRCh38]
Chr4:169846135 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.3301G>C (p.Val1101Leu) single nucleotide variant Pancreatic adenocarcinoma [RCV001053240]|not provided [RCV000116053] Chr4:168925021 [GRCh38]
Chr4:169846172 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2748C>T (p.Asp916=) single nucleotide variant Pancreatic adenocarcinoma [RCV000123162]|not provided [RCV004716989]|not specified [RCV004019705] Chr4:168915925 [GRCh38]
Chr4:169837076 [GRCh37]
Chr4:4q32.3
benign|likely benign
NM_001166108.2(PALLD):c.3269G>A (p.Gly1090Glu) single nucleotide variant Pancreatic adenocarcinoma [RCV000206324]|not specified [RCV004019706] Chr4:168924989 [GRCh38]
Chr4:169846140 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.3297T>C (p.Tyr1099=) single nucleotide variant PALLD-related disorder [RCV003952631]|Pancreatic adenocarcinoma [RCV000123166]|Pancreatic cancer, susceptibility to, 1 [RCV000319186]|not provided [RCV002055381]|not specified [RCV000194244] Chr4:168925017 [GRCh38]
Chr4:169846168 [GRCh37]
Chr4:4q32.3
benign|likely benign
NM_001166108.2(PALLD):c.2199+8G>A single nucleotide variant Pancreatic adenocarcinoma [RCV001083018]|Pancreatic cancer, susceptibility to, 1 [RCV000310521]|not provided [RCV003389731] Chr4:168894685 [GRCh38]
Chr4:169815836 [GRCh37]
Chr4:4q32.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001166108.2(PALLD):c.2326G>C (p.Glu776Gln) single nucleotide variant Pancreatic adenocarcinoma [RCV000123178]|not specified [RCV004019709] Chr4:168898568 [GRCh38]
Chr4:169819719 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2362G>T (p.Val788Leu) single nucleotide variant Pancreatic adenocarcinoma [RCV000123179] Chr4:168898604 [GRCh38]
Chr4:169819755 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2393T>C (p.Met798Thr) single nucleotide variant Pancreatic adenocarcinoma [RCV001083259]|Pancreatic cancer, susceptibility to, 1 [RCV000365201]|not provided [RCV003389732]|not specified [RCV004019710] Chr4:168898635 [GRCh38]
Chr4:169819786 [GRCh37]
Chr4:4q32.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001166108.2(PALLD):c.2414T>G (p.Ile805Ser) single nucleotide variant Pancreatic adenocarcinoma [RCV000123181]|not specified [RCV004019711] Chr4:168898656 [GRCh38]
Chr4:169819807 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2442A>G (p.Thr814=) single nucleotide variant Pancreatic adenocarcinoma [RCV001084926]|Pancreatic cancer, susceptibility to, 1 [RCV000398866]|not provided [RCV000119202]|not specified [RCV000160877] Chr4:168898684 [GRCh38]
Chr4:169819835 [GRCh37]
Chr4:4q32.3
benign|likely benign
GRCh38/hg38 4q31.21-35.2(chr4:145042668-189975519)x3 copy number gain See cases [RCV000135845] Chr4:145042668..189975519 [GRCh38]
Chr4:145963820..190828225 [GRCh37]
Chr4:146183270..191133668 [NCBI36]
Chr4:4q31.21-35.2
pathogenic
GRCh38/hg38 4q31.1-35.2(chr4:138510532-189963195)x3 copy number gain See cases [RCV000136810] Chr4:138510532..189963195 [GRCh38]
Chr4:139431686..190828225 [GRCh37]
Chr4:139651136..191121344 [NCBI36]
Chr4:4q31.1-35.2
pathogenic
GRCh38/hg38 4q28.3-35.2(chr4:131985253-190095391)x3 copy number gain See cases [RCV000137721] Chr4:131985253..190095391 [GRCh38]
Chr4:132906408..190828225 [GRCh37]
Chr4:133125858..191250527 [NCBI36]
Chr4:4q28.3-35.2
pathogenic|likely benign
GRCh38/hg38 4q32.3-35.2(chr4:166317587-190095391)x1 copy number loss See cases [RCV000137532] Chr4:166317587..190095391 [GRCh38]
Chr4:167238739..190828225 [GRCh37]
Chr4:167458189..191250527 [NCBI36]
Chr4:4q32.3-35.2
pathogenic
GRCh38/hg38 4q28.1-35.1(chr4:125432943-185761887)x3 copy number gain See cases [RCV000138578] Chr4:125432943..185761887 [GRCh38]
Chr4:126354098..186683041 [GRCh37]
Chr4:126573548..186920035 [NCBI36]
Chr4:4q28.1-35.1
pathogenic|likely benign
GRCh38/hg38 4q32.3-35.2(chr4:165281036-190018185)x1 copy number loss See cases [RCV000140414] Chr4:165281036..190018185 [GRCh38]
Chr4:166202188..190939340 [GRCh37]
Chr4:166421638..191176334 [NCBI36]
Chr4:4q32.3-35.2
pathogenic
GRCh38/hg38 4q32.1-35.2(chr4:160757699-190091407)x3 copy number gain See cases [RCV000140982] Chr4:160757699..190091407 [GRCh38]
Chr4:161678851..191012562 [GRCh37]
Chr4:161898301..191246543 [NCBI36]
Chr4:4q32.1-35.2
pathogenic
GRCh38/hg38 4q32.3-35.2(chr4:167373716-190036318)x1 copy number loss See cases [RCV000141964] Chr4:167373716..190036318 [GRCh38]
Chr4:168294867..190957473 [GRCh37]
Chr4:168531442..191194467 [NCBI36]
Chr4:4q32.3-35.2
pathogenic
GRCh38/hg38 4q32.1-33(chr4:155162982-170959553)x1 copy number loss See cases [RCV000141861] Chr4:155162982..170959553 [GRCh38]
Chr4:156084134..171880704 [GRCh37]
Chr4:156303584..172117279 [NCBI36]
Chr4:4q32.1-33
pathogenic
GRCh38/hg38 4q32.3-34.3(chr4:166630207-179820960) copy number loss See cases [RCV000141653] Chr4:166630207..179820960 [GRCh38]
Chr4:167551358..180742113 [GRCh37]
Chr4:167770808..180979107 [NCBI36]
Chr4:4q32.3-34.3
pathogenic
GRCh38/hg38 4q32.3-35.2(chr4:168970400-186936738)x1 copy number loss See cases [RCV000142368] Chr4:168970400..186936738 [GRCh38]
Chr4:169891551..187857892 [GRCh37]
Chr4:170128126..188094886 [NCBI36]
Chr4:4q32.3-35.2
pathogenic
GRCh38/hg38 4q32.3-35.2(chr4:168119317-190095391)x3 copy number gain See cases [RCV000143331] Chr4:168119317..190095391 [GRCh38]
Chr4:169040468..190828225 [GRCh37]
Chr4:169277043..191250527 [NCBI36]
Chr4:4q32.3-35.2
pathogenic
GRCh38/hg38 4q32.3-33(chr4:167469096-170889588)x3 copy number gain See cases [RCV000143231] Chr4:167469096..170889588 [GRCh38]
Chr4:168390247..171810739 [GRCh37]
Chr4:168626822..172047314 [NCBI36]
Chr4:4q32.3-33
uncertain significance
GRCh38/hg38 4q32.3-33(chr4:168140014-170186711)x3 copy number gain See cases [RCV000143625] Chr4:168140014..170186711 [GRCh38]
Chr4:169061165..171107862 [GRCh37]
Chr4:169297740..171344437 [NCBI36]
Chr4:4q32.3-33
likely pathogenic
GRCh38/hg38 4q28.3-35.2(chr4:134935616-190036318)x3 copy number gain See cases [RCV000143559] Chr4:134935616..190036318 [GRCh38]
Chr4:135856771..190957473 [GRCh37]
Chr4:136076221..191194467 [NCBI36]
Chr4:4q28.3-35.2
pathogenic
NM_001166108.2(PALLD):c.3256C>T (p.Leu1086=) single nucleotide variant PALLD-related disorder [RCV003965182]|Pancreatic adenocarcinoma [RCV000204944]|Pancreatic cancer, susceptibility to, 1 [RCV000261555]|not specified [RCV000160878] Chr4:168924976 [GRCh38]
Chr4:169846127 [GRCh37]
Chr4:4q32.3
benign|likely benign
NM_001166108.2(PALLD):c.3359-24CT[5] microsatellite Hereditary cancer-predisposing syndrome [RCV000160879] Chr4:168925209..168925210 [GRCh38]
Chr4:169846360..169846361 [GRCh37]
Chr4:4q32.3
benign
NM_001166108.2(PALLD):c.*153A>G single nucleotide variant Pancreatic adenocarcinoma [RCV000168268] Chr4:168926333 [GRCh38]
Chr4:169847484 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2353G>T (p.Asp785Tyr) single nucleotide variant Pancreatic adenocarcinoma [RCV000168277]|not specified [RCV004020004] Chr4:168898595 [GRCh38]
Chr4:169819746 [GRCh37]
Chr4:4q32.3
uncertain significance
GRCh37/hg19 4q28.3-35.1(chr4:136912336-184253252)x3 copy number gain See cases [RCV000240245] Chr4:136912336..184253252 [GRCh37]
Chr4:4q28.3-35.1
pathogenic
NM_001166108.2(PALLD):c.2675G>A (p.Gly892Asp) single nucleotide variant Pancreatic adenocarcinoma [RCV000196073] Chr4:168913979 [GRCh38]
Chr4:169835130 [GRCh37]
Chr4:4q32.3
likely pathogenic|uncertain significance
NM_001166108.2(PALLD):c.2621A>G (p.Gln874Arg) single nucleotide variant Pancreatic adenocarcinoma [RCV000196940]|not specified [RCV004020466] Chr4:168903905 [GRCh38]
Chr4:169825056 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2197C>G (p.Gln733Glu) single nucleotide variant Pancreatic adenocarcinoma [RCV000198039]|not specified [RCV004020469] Chr4:168894675 [GRCh38]
Chr4:169815826 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2645G>A (p.Arg882Gln) single nucleotide variant Pancreatic adenocarcinoma [RCV000198832]|not specified [RCV004020467] Chr4:168913949 [GRCh38]
Chr4:169835100 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.*108C>T single nucleotide variant Pancreatic adenocarcinoma [RCV000199118] Chr4:168926288 [GRCh38]
Chr4:169847439 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2513G>A (p.Ser838Asn) single nucleotide variant Pancreatic adenocarcinoma [RCV000199356]|not specified [RCV004658988] Chr4:168903797 [GRCh38]
Chr4:169824948 [GRCh37]
Chr4:4q32.3
likely benign|uncertain significance
NM_001166108.2(PALLD):c.2784T>C (p.Pro928=) single nucleotide variant PALLD-related disorder [RCV003955200]|Pancreatic adenocarcinoma [RCV000199612]|Pancreatic cancer, susceptibility to, 1 [RCV000369325]|not specified [RCV004020441] Chr4:168915961 [GRCh38]
Chr4:169837112 [GRCh37]
Chr4:4q32.3
likely pathogenic|benign|likely benign
NM_001166108.2(PALLD):c.2312G>A (p.Arg771Lys) single nucleotide variant Pancreatic adenocarcinoma [RCV000199919] Chr4:168898554 [GRCh38]
Chr4:169819705 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2541C>T (p.Leu847=) single nucleotide variant Pancreatic adenocarcinoma [RCV001424160]|not specified [RCV004020450] Chr4:168903825 [GRCh38]
Chr4:169824976 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.2532A>G (p.Gln844=) single nucleotide variant Pancreatic adenocarcinoma [RCV000200565]|not specified [RCV004020465] Chr4:168903816 [GRCh38]
Chr4:169824967 [GRCh37]
Chr4:4q32.3
likely benign|uncertain significance
NM_001166108.2(PALLD):c.33-4G>A single nucleotide variant PALLD-related disorder [RCV003947654]|Pancreatic adenocarcinoma [RCV000197648]|Pancreatic cancer, susceptibility to, 1 [RCV000286156] Chr4:168926209 [GRCh38]
Chr4:169847360 [GRCh37]
Chr4:4q32.3
benign|likely benign
NM_001166108.2(PALLD):c.2626C>T (p.Arg876Cys) single nucleotide variant Pancreatic adenocarcinoma [RCV000204482]|not specified [RCV004020505] Chr4:168913930 [GRCh38]
Chr4:169835081 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2347T>G (p.Tyr783Asp) single nucleotide variant Pancreatic adenocarcinoma [RCV000204680]|not specified [RCV004020518] Chr4:168898589 [GRCh38]
Chr4:169819740 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2333G>T (p.Gly778Val) single nucleotide variant Pancreatic adenocarcinoma [RCV000204710]|not specified [RCV004020510] Chr4:168898575 [GRCh38]
Chr4:169819726 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166110.1(PALLD):c.738+4delC deletion Pancreatic adenocarcinoma [RCV000204907] Chr4:168894681 [GRCh38]
Chr4:169815832 [GRCh37]
Chr4:4q32.3
benign
NM_001166108.2(PALLD):c.2576C>T (p.Thr859Ile) single nucleotide variant Pancreatic adenocarcinoma [RCV000205097] Chr4:168903860 [GRCh38]
Chr4:169825011 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2520C>A (p.His840Gln) single nucleotide variant Pancreatic adenocarcinoma [RCV000205622]|not specified [RCV004020515] Chr4:168903804 [GRCh38]
Chr4:169824955 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.3177T>A (p.Phe1059Leu) single nucleotide variant Pancreatic adenocarcinoma [RCV000205898]|not specified [RCV004020546] Chr4:168924373 [GRCh38]
Chr4:169845524 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2163T>G (p.Phe721Leu) single nucleotide variant Pancreatic adenocarcinoma [RCV000206121]|not specified [RCV004020516] Chr4:168894641 [GRCh38]
Chr4:169815792 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.3254G>A (p.Cys1085Tyr) single nucleotide variant Pancreatic adenocarcinoma [RCV000206157]|not specified [RCV004020530] Chr4:168924974 [GRCh38]
Chr4:169846125 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.3358+9C>G single nucleotide variant Pancreatic adenocarcinoma [RCV001500484] Chr4:168925087 [GRCh38]
Chr4:169846238 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.2723G>A (p.Arg908His) single nucleotide variant Pancreatic adenocarcinoma [RCV000230245]|not specified [RCV004020778] Chr4:168915900 [GRCh38]
Chr4:169837051 [GRCh37]
Chr4:4q32.3
likely benign|uncertain significance
NM_001166108.2(PALLD):c.2101-9G>A single nucleotide variant PALLD-related disorder [RCV003905178]|Pancreatic adenocarcinoma [RCV000123176] Chr4:168894570 [GRCh38]
Chr4:169815721 [GRCh37]
Chr4:4q32.3
likely benign|uncertain significance
NM_001166108.2(PALLD):c.2199+5del deletion Pancreatic adenocarcinoma [RCV000227731] Chr4:168894681 [GRCh38]
Chr4:169815832 [GRCh37]
Chr4:4q32.3
benign
NM_001166108.2(PALLD):c.2130T>C (p.Arg710=) single nucleotide variant Pancreatic adenocarcinoma [RCV000205872]|not specified [RCV004020536] Chr4:168894608 [GRCh38]
Chr4:169815759 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.3218G>A (p.Arg1073Gln) single nucleotide variant Pancreatic adenocarcinoma [RCV000231402]|not specified [RCV004020779] Chr4:168924414 [GRCh38]
Chr4:169845565 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2687G>A (p.Arg896Gln) single nucleotide variant Pancreatic adenocarcinoma [RCV000226280]|not specified [RCV004020777] Chr4:168913991 [GRCh38]
Chr4:169835142 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2144C>T (p.Ala715Val) single nucleotide variant Pancreatic adenocarcinoma [RCV000232764] Chr4:168894622 [GRCh38]
Chr4:169815773 [GRCh37]
Chr4:4q32.3
uncertain significance
GRCh37/hg19 4q32.2-34.2(chr4:162344510-177103037)x1 copy number loss See cases [RCV000239855] Chr4:162344510..177103037 [GRCh37]
Chr4:4q32.2-34.2
pathogenic
GRCh37/hg19 4q26-35.2(chr4:119437495-190904301)x3 copy number gain See cases [RCV000240392] Chr4:119437495..190904301 [GRCh37]
Chr4:4q26-35.2
pathogenic
NM_001166108.2(PALLD):c.*1792T>A single nucleotide variant Pancreatic cancer, susceptibility to, 1 [RCV000267723] Chr4:168927972 [GRCh38]
Chr4:169849123 [GRCh37]
Chr4:4q32.3
likely benign|uncertain significance
NM_001166108.2(PALLD):c.*1906G>A single nucleotide variant Pancreatic cancer, susceptibility to, 1 [RCV000271034]|not provided [RCV001675853] Chr4:168928086 [GRCh38]
Chr4:169849237 [GRCh37]
Chr4:4q32.3
benign
NM_001166108.2(PALLD):c.2891A>C (p.Asp964Ala) single nucleotide variant Pancreatic adenocarcinoma [RCV001226048]|Pancreatic cancer, susceptibility to, 1 [RCV000277008] Chr4:168921574 [GRCh38]
Chr4:169842725 [GRCh37]
Chr4:4q32.3
likely benign|uncertain significance
NM_001166108.2(PALLD):c.*2155_*2156del deletion Carcinoma of pancreas [RCV000278358]|not provided [RCV004695784] Chr4:168928327..168928328 [GRCh38]
Chr4:169849478..169849479 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.*333ATA[3] microsatellite Carcinoma of pancreas [RCV000289470] Chr4:168926511..168926512 [GRCh38]
Chr4:169847662..169847663 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.*1164T>G single nucleotide variant Pancreatic cancer, susceptibility to, 1 [RCV000299921] Chr4:168927344 [GRCh38]
Chr4:169848495 [GRCh37]
Chr4:4q32.3
benign|likely benign
NM_001166108.2(PALLD):c.*1786_*1787insATT insertion Carcinoma of pancreas [RCV000303576] Chr4:168927966..168927967 [GRCh38]
Chr4:169849117..169849118 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2679A>G (p.Arg893=) single nucleotide variant Pancreatic adenocarcinoma [RCV000860256]|Pancreatic cancer, susceptibility to, 1 [RCV000312336]|not provided [RCV001691995]|not specified [RCV004021955] Chr4:168913983 [GRCh38]
Chr4:169835134 [GRCh37]
Chr4:4q32.3
benign
NM_001166108.2(PALLD):c.3145C>T (p.Arg1049Cys) single nucleotide variant Carcinoma of pancreas [RCV000315803]|Pancreatic adenocarcinoma [RCV000700928]|not specified [RCV004021956] Chr4:168924341 [GRCh38]
Chr4:169845492 [GRCh37]
Chr4:4q32.3
likely benign|uncertain significance
NM_001166108.2(PALLD):c.*325del deletion Carcinoma of pancreas [RCV000324866]|not provided [RCV001653674] Chr4:168926496 [GRCh38]
Chr4:169847647 [GRCh37]
Chr4:4q32.3
benign
NM_001166108.2(PALLD):c.*1808C>T single nucleotide variant Pancreatic cancer, susceptibility to, 1 [RCV000325058] Chr4:168927988 [GRCh38]
Chr4:169849139 [GRCh37]
Chr4:4q32.3
likely benign|uncertain significance
NM_001166108.2(PALLD):c.*1131T>G single nucleotide variant Pancreatic cancer, susceptibility to, 1 [RCV000334998] Chr4:168927311 [GRCh38]
Chr4:169848462 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.*2184G>A single nucleotide variant Pancreatic cancer, susceptibility to, 1 [RCV000339397] Chr4:168928364 [GRCh38]
Chr4:169849515 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.*492A>G single nucleotide variant Pancreatic cancer, susceptibility to, 1 [RCV000347025] Chr4:168926672 [GRCh38]
Chr4:169847823 [GRCh37]
Chr4:4q32.3
benign|likely benign
NM_001166108.2(PALLD):c.*946C>A single nucleotide variant Pancreatic cancer, susceptibility to, 1 [RCV000350510]|not provided [RCV004716175] Chr4:168927126 [GRCh38]
Chr4:169848277 [GRCh37]
Chr4:4q32.3
benign|likely benign
NM_001166108.2(PALLD):c.3150A>G (p.Val1050=) single nucleotide variant Pancreatic adenocarcinoma [RCV002057922]|Pancreatic cancer, susceptibility to, 1 [RCV000354139]|not specified [RCV004021957] Chr4:168924346 [GRCh38]
Chr4:169845497 [GRCh37]
Chr4:4q32.3
benign|likely benign|uncertain significance
NM_001166108.2(PALLD):c.*1594T>C single nucleotide variant Pancreatic cancer, susceptibility to, 1 [RCV000357157] Chr4:168927774 [GRCh38]
Chr4:169848925 [GRCh37]
Chr4:4q32.3
benign|likely benign
NM_001166108.2(PALLD):c.*1757T>G single nucleotide variant Pancreatic cancer, susceptibility to, 1 [RCV000264861] Chr4:168927937 [GRCh38]
Chr4:169849088 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.3359-4G>A single nucleotide variant Pancreatic cancer, susceptibility to, 1 [RCV000376121]|not provided [RCV001675852]|not specified [RCV004021958] Chr4:168925229 [GRCh38]
Chr4:169846380 [GRCh37]
Chr4:4q32.3
benign|likely benign
NM_001166108.2(PALLD):c.*317A>T single nucleotide variant Pancreatic cancer, susceptibility to, 1 [RCV000381767] Chr4:168926497 [GRCh38]
Chr4:169847648 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.*1829T>C single nucleotide variant Pancreatic cancer, susceptibility to, 1 [RCV000382024] Chr4:168928009 [GRCh38]
Chr4:169849160 [GRCh37]
Chr4:4q32.3
benign|likely benign
NM_001166108.2(PALLD):c.*2058C>G single nucleotide variant Pancreatic cancer, susceptibility to, 1 [RCV000385400]|not provided [RCV001618621] Chr4:168928238 [GRCh38]
Chr4:169849389 [GRCh37]
Chr4:4q32.3
benign
NM_001166108.2(PALLD):c.*2156del deletion Carcinoma of pancreas [RCV000389268] Chr4:168928327 [GRCh38]
Chr4:169849478 [GRCh37]
Chr4:4q32.3
benign
NM_001166108.2(PALLD):c.*992A>G single nucleotide variant Pancreatic cancer, susceptibility to, 1 [RCV000396199] Chr4:168927172 [GRCh38]
Chr4:169848323 [GRCh37]
Chr4:4q32.3
benign|likely benign
NM_001166108.2(PALLD):c.*2214C>T single nucleotide variant Pancreatic cancer, susceptibility to, 1 [RCV000396315] Chr4:168928394 [GRCh38]
Chr4:169849545 [GRCh37]
Chr4:4q32.3
benign|likely benign
NM_001166108.2(PALLD):c.*1132T>C single nucleotide variant Pancreatic cancer, susceptibility to, 1 [RCV000401967] Chr4:168927312 [GRCh38]
Chr4:169848463 [GRCh37]
Chr4:4q32.3
benign|likely benign
NM_001166108.2(PALLD):c.2532A>C (p.Gln844His) single nucleotide variant not specified [RCV004320470] Chr4:168903816 [GRCh38]
Chr4:169824967 [GRCh37]
Chr4:4q32.3
uncertain significance
GRCh37/hg19 4q32.3-34.1(chr4:169709270-171996798)x1 copy number loss See cases [RCV003222553] Chr4:169709270..171996798 [GRCh37]
Chr4:4q32.3-34.1
uncertain significance
GRCh37/hg19 4q32.3-35.2(chr4:167779888-190957473)x1 copy number loss See cases [RCV002292706] Chr4:167779888..190957473 [GRCh37]
Chr4:4q32.3-35.2
pathogenic
NM_001166108.2(PALLD):c.*1011_*1014dup duplication Carcinoma of pancreas [RCV000315023] Chr4:168927189..168927190 [GRCh38]
Chr4:169848340..169848341 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.*908A>G single nucleotide variant Pancreatic cancer, susceptibility to, 1 [RCV000293190] Chr4:168927088 [GRCh38]
Chr4:169848239 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.*2070G>C single nucleotide variant Pancreatic cancer, susceptibility to, 1 [RCV000293432] Chr4:168928250 [GRCh38]
Chr4:169849401 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.*829dup duplication Carcinoma of pancreas [RCV000385204] Chr4:168927001..168927002 [GRCh38]
Chr4:169848152..169848153 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.*2162ATCA[2] microsatellite Carcinoma of pancreas [RCV000335736]|not provided [RCV001672639] Chr4:168928342..168928345 [GRCh38]
Chr4:169849493..169849496 [GRCh37]
Chr4:4q32.3
benign
NM_001166108.2(PALLD):c.*2156dup duplication Carcinoma of pancreas [RCV000350998]|not provided [RCV004695783] Chr4:168928326..168928327 [GRCh38]
Chr4:169849477..169849478 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.*2166A>G single nucleotide variant Pancreatic cancer, susceptibility to, 1 [RCV000396316] Chr4:168928346 [GRCh38]
Chr4:169849497 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.*2168C>A single nucleotide variant Pancreatic cancer, susceptibility to, 1 [RCV000300945] Chr4:168928348 [GRCh38]
Chr4:169849499 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.*1787T>C single nucleotide variant Pancreatic cancer, susceptibility to, 1 [RCV000360071] Chr4:168927967 [GRCh38]
Chr4:169849118 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.*2022A>G single nucleotide variant Pancreatic cancer, susceptibility to, 1 [RCV000328416] Chr4:168928202 [GRCh38]
Chr4:169849353 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.3277A>G (p.Lys1093Glu) single nucleotide variant Pancreatic adenocarcinoma [RCV000537608]|not specified [RCV004024367] Chr4:168924997 [GRCh38]
Chr4:169846148 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.*187A>G single nucleotide variant Pancreatic adenocarcinoma [RCV000558235] Chr4:168926367 [GRCh38]
Chr4:169847518 [GRCh37]
Chr4:4q32.3
likely benign
GRCh37/hg19 4q32.3-35.2(chr4:167413365-190957473)x1 copy number loss See cases [RCV000446115] Chr4:167413365..190957473 [GRCh37]
Chr4:4q32.3-35.2
pathogenic
GRCh37/hg19 4q32.3-35.2(chr4:166735148-190957473)x3 copy number gain See cases [RCV000446531] Chr4:166735148..190957473 [GRCh37]
Chr4:4q32.3-35.2
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3 copy number gain See cases [RCV000446653] Chr4:12440..190904441 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
NM_001166108.2(PALLD):c.2414T>C (p.Ile805Thr) single nucleotide variant Pancreatic adenocarcinoma [RCV000463271] Chr4:168898656 [GRCh38]
Chr4:169819807 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2754T>A (p.Asn918Lys) single nucleotide variant Pancreatic adenocarcinoma [RCV000465884] Chr4:168915931 [GRCh38]
Chr4:169837082 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2598T>C (p.Tyr866=) single nucleotide variant Pancreatic adenocarcinoma [RCV000469577]|not specified [RCV004023022] Chr4:168903882 [GRCh38]
Chr4:169825033 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.2815G>C (p.Val939Leu) single nucleotide variant Pancreatic adenocarcinoma [RCV000474954]|not specified [RCV004022806] Chr4:168915992 [GRCh38]
Chr4:169837143 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.*77C>T single nucleotide variant Pancreatic adenocarcinoma [RCV000456395] Chr4:168926257 [GRCh38]
Chr4:169847408 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2976G>A (p.Thr992=) single nucleotide variant PALLD-related disorder [RCV003972797]|Pancreatic adenocarcinoma [RCV000468633]|not specified [RCV004023020] Chr4:168921659 [GRCh38]
Chr4:169842810 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.3321A>G (p.Ala1107=) single nucleotide variant Pancreatic adenocarcinoma [RCV002063684]|not specified [RCV004023023] Chr4:168925041 [GRCh38]
Chr4:169846192 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.*163C>T single nucleotide variant Pancreatic adenocarcinoma [RCV001445639] Chr4:168926343 [GRCh38]
Chr4:169847494 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.2199+4C>T single nucleotide variant Pancreatic adenocarcinoma [RCV000470091] Chr4:168894681 [GRCh38]
Chr4:169815832 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2112C>T (p.Tyr704=) single nucleotide variant Pancreatic adenocarcinoma [RCV001472301]|Pancreatic cancer, susceptibility to, 1 [RCV003316620]|not specified [RCV004023021] Chr4:168894590 [GRCh38]
Chr4:169815741 [GRCh37]
Chr4:4q32.3
likely benign
GRCh37/hg19 4q32.3-35.2(chr4:166436844-190957473)x3 copy number gain See cases [RCV000510222] Chr4:166436844..190957473 [GRCh37]
Chr4:4q32.3-35.2
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473) copy number gain See cases [RCV000510453] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4q31.3-35.2(chr4:153890440-190957473)x3 copy number gain See cases [RCV000510713] Chr4:153890440..190957473 [GRCh37]
Chr4:4q31.3-35.2
pathogenic
GRCh37/hg19 4q25-35.2(chr4:109199664-189752726)x3 copy number gain See cases [RCV000511945] Chr4:109199664..189752726 [GRCh37]
Chr4:4q25-35.2
pathogenic
GRCh37/hg19 4q22.1-35.2(chr4:93071152-190957473)x3 copy number gain See cases [RCV000510970] Chr4:93071152..190957473 [GRCh37]
Chr4:4q22.1-35.2
pathogenic
NM_001166108.2(PALLD):c.2524A>G (p.Thr842Ala) single nucleotide variant Pancreatic adenocarcinoma [RCV000538211]|not specified [RCV004024364] Chr4:168903808 [GRCh38]
Chr4:169824959 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2600C>A (p.Thr867Lys) single nucleotide variant not specified [RCV004331280] Chr4:168903884 [GRCh38]
Chr4:169825035 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2445T>C (p.Cys815=) single nucleotide variant not specified [RCV004331287] Chr4:168898687 [GRCh38]
Chr4:169819838 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.3364C>G (p.Arg1122Gly) single nucleotide variant not specified [RCV004331298] Chr4:168925238 [GRCh38]
Chr4:169846389 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.3056C>T (p.Ala1019Val) single nucleotide variant not specified [RCV004331312] Chr4:168921739 [GRCh38]
Chr4:169842890 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2507C>T (p.Pro836Leu) single nucleotide variant not specified [RCV004331324] Chr4:168903791 [GRCh38]
Chr4:169824942 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.3095A>G (p.Lys1032Arg) single nucleotide variant not specified [RCV004331333] Chr4:168924291 [GRCh38]
Chr4:169845442 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2364G>A (p.Val788=) single nucleotide variant not specified [RCV004328021] Chr4:168898606 [GRCh38]
Chr4:169819757 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.2496G>C (p.Lys832Asn) single nucleotide variant not specified [RCV004331278] Chr4:168903780 [GRCh38]
Chr4:169824931 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2437T>C (p.Phe813Leu) single nucleotide variant not specified [RCV004331281] Chr4:168898679 [GRCh38]
Chr4:169819830 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.3043G>A (p.Glu1015Lys) single nucleotide variant not specified [RCV004331313] Chr4:168921726 [GRCh38]
Chr4:169842877 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2921A>C (p.His974Pro) single nucleotide variant not specified [RCV004331328] Chr4:168921604 [GRCh38]
Chr4:169842755 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.3183G>A (p.Lys1061=) single nucleotide variant not specified [RCV004331331] Chr4:168924379 [GRCh38]
Chr4:169845530 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.2267G>C (p.Ser756Thr) single nucleotide variant Pancreatic adenocarcinoma [RCV000653471] Chr4:168898509 [GRCh38]
Chr4:169819660 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2810T>G (p.Leu937Arg) single nucleotide variant Pancreatic adenocarcinoma [RCV000653476]|not specified [RCV004025908] Chr4:168915987 [GRCh38]
Chr4:169837138 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2635T>G (p.Cys879Gly) single nucleotide variant Pancreatic adenocarcinoma [RCV000555487] Chr4:168913939 [GRCh38]
Chr4:169835090 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2258A>G (p.Lys753Arg) single nucleotide variant Pancreatic adenocarcinoma [RCV000653477]|not specified [RCV004025909] Chr4:168898500 [GRCh38]
Chr4:169819651 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2303G>A (p.Arg768Lys) single nucleotide variant Pancreatic adenocarcinoma [RCV000653478] Chr4:168898545 [GRCh38]
Chr4:169819696 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2176C>A (p.Pro726Thr) single nucleotide variant Pancreatic adenocarcinoma [RCV000653480]|not specified [RCV004025910] Chr4:168894654 [GRCh38]
Chr4:169815805 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.3146G>A (p.Arg1049His) single nucleotide variant Pancreatic adenocarcinoma [RCV000653474] Chr4:168924342 [GRCh38]
Chr4:169845493 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.*136G>A single nucleotide variant Pancreatic adenocarcinoma [RCV000653485] Chr4:168926316 [GRCh38]
Chr4:169847467 [GRCh37]
Chr4:4q32.3
likely benign
NM_032783.5(CBR4):c.56C>T (p.Ala19Val) single nucleotide variant not specified [RCV004305700] Chr4:169010034 [GRCh38]
Chr4:169931185 [GRCh37]
Chr4:4q32.3
uncertain significance
GRCh37/hg19 4q32.1-35.2(chr4:156465633-190957473)x3 copy number gain See cases [RCV000512542] Chr4:156465633..190957473 [GRCh37]
Chr4:4q32.1-35.2
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3 copy number gain See cases [RCV000512241] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4q32.2-34.3(chr4:162205710-182329883)x1 copy number loss See cases [RCV000512340] Chr4:162205710..182329883 [GRCh37]
Chr4:4q32.2-34.3
pathogenic
GRCh37/hg19 4q32.1-35.2(chr4:159492464-190957473)x3 copy number gain not provided [RCV000682478] Chr4:159492464..190957473 [GRCh37]
Chr4:4q32.1-35.2
pathogenic
GRCh37/hg19 4q32.1-35.1(chr4:157552397-183831253)x3 copy number gain not provided [RCV000682475] Chr4:157552397..183831253 [GRCh37]
Chr4:4q32.1-35.1
pathogenic
Single allele deletion not provided [RCV000677975] Chr4:164428194..173480785 [GRCh37]
Chr4:4q32.2-34.1
likely pathogenic
NM_001166108.2(PALLD):c.2749G>A (p.Glu917Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002424594]|Inborn genetic diseases [RCV002547116]|PALLD-related disorder [RCV003420218]|Pancreatic adenocarcinoma [RCV000687569] Chr4:168915926 [GRCh38]
Chr4:169837077 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.*155C>G single nucleotide variant Pancreatic adenocarcinoma [RCV000686406] Chr4:168926335 [GRCh38]
Chr4:169847486 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2983G>C (p.Asp995His) single nucleotide variant Pancreatic adenocarcinoma [RCV000707309]|not specified [RCV004026750] Chr4:168921666 [GRCh38]
Chr4:169842817 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.*127C>G single nucleotide variant Pancreatic adenocarcinoma [RCV000695641] Chr4:168926307 [GRCh38]
Chr4:169847458 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2902G>A (p.Val968Ile) single nucleotide variant Pancreatic adenocarcinoma [RCV000695714]|not specified [RCV004025251] Chr4:168921585 [GRCh38]
Chr4:169842736 [GRCh37]
Chr4:4q32.3
likely benign|uncertain significance
NM_001166108.2(PALLD):c.2693C>T (p.Pro898Leu) single nucleotide variant Pancreatic adenocarcinoma [RCV000705045] Chr4:168913997 [GRCh38]
Chr4:169835148 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2678G>A (p.Arg893Gln) single nucleotide variant Pancreatic adenocarcinoma [RCV000694415]|not specified [RCV004025194] Chr4:168913982 [GRCh38]
Chr4:169835133 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.3050T>C (p.Val1017Ala) single nucleotide variant Pancreatic adenocarcinoma [RCV000703507] Chr4:168921733 [GRCh38]
Chr4:169842884 [GRCh37]
Chr4:4q32.3
uncertain significance
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190915650)x3 copy number gain not provided [RCV000743155] Chr4:49450..190915650 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4q32.3-34.1(chr4:166431563-174837887)x1 copy number loss not provided [RCV000744125] Chr4:166431563..174837887 [GRCh37]
Chr4:4q32.3-34.1
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190963766)x3 copy number gain not provided [RCV000743156] Chr4:49450..190963766 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:11525-191028879)x3 copy number gain not provided [RCV000743147] Chr4:11525..191028879 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
NM_001166108.2(PALLD):c.2101-6_2101-4del microsatellite Pancreatic adenocarcinoma [RCV002539100] Chr4:168894570..168894572 [GRCh38]
Chr4:169815721..169815723 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.2132G>A (p.Arg711Gln) single nucleotide variant not specified [RCV004060451] Chr4:168894610 [GRCh38]
Chr4:169815761 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2622+9G>A single nucleotide variant Pancreatic adenocarcinoma [RCV001398853] Chr4:168903915 [GRCh38]
Chr4:169825066 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.2101-10C>T single nucleotide variant Pancreatic adenocarcinoma [RCV001478088] Chr4:168894569 [GRCh38]
Chr4:169815720 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.3112G>C (p.Val1038Leu) single nucleotide variant Pancreatic adenocarcinoma [RCV001041330] Chr4:168924308 [GRCh38]
Chr4:169845459 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.3349G>A (p.Asp1117Asn) single nucleotide variant Pancreatic adenocarcinoma [RCV001058746] Chr4:168925069 [GRCh38]
Chr4:169846220 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.3199C>G (p.Leu1067Val) single nucleotide variant Pancreatic adenocarcinoma [RCV001068641]|not specified [RCV004030683] Chr4:168924395 [GRCh38]
Chr4:169845546 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2182G>C (p.Glu728Gln) single nucleotide variant Pancreatic adenocarcinoma [RCV001042889]|not specified [RCV004031302] Chr4:168894660 [GRCh38]
Chr4:169815811 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2801C>T (p.Pro934Leu) single nucleotide variant PALLD-related disorder [RCV003405249]|Pancreatic adenocarcinoma [RCV001048556]|not specified [RCV004031514] Chr4:168915978 [GRCh38]
Chr4:169837129 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2530C>A (p.Gln844Lys) single nucleotide variant Pancreatic adenocarcinoma [RCV001052752] Chr4:168903814 [GRCh38]
Chr4:169824965 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2892T>C (p.Asp964=) single nucleotide variant Pancreatic adenocarcinoma [RCV000864749]|not specified [RCV004027630] Chr4:168921575 [GRCh38]
Chr4:169842726 [GRCh37]
Chr4:4q32.3
benign|likely benign
NM_001166108.2(PALLD):c.2175G>A (p.Glu725=) single nucleotide variant Pancreatic adenocarcinoma [RCV001395305]|not specified [RCV004027870] Chr4:168894653 [GRCh38]
Chr4:169815804 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.2906G>A (p.Arg969His) single nucleotide variant Pancreatic adenocarcinoma [RCV000822627]|not specified [RCV004029110] Chr4:168921589 [GRCh38]
Chr4:169842740 [GRCh37]
Chr4:4q32.3
uncertain significance
GRCh37/hg19 4q32.3-35.2(chr4:166623890-190957473)x1 copy number loss not provided [RCV000845722] Chr4:166623890..190957473 [GRCh37]
Chr4:4q32.3-35.2
pathogenic
NM_001166108.2(PALLD):c.2944G>A (p.Gly982Arg) single nucleotide variant Pancreatic adenocarcinoma [RCV000803091]|not specified [RCV004028134] Chr4:168921627 [GRCh38]
Chr4:169842778 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2627G>A (p.Arg876His) single nucleotide variant Pancreatic adenocarcinoma [RCV000805652]|not specified [RCV004028222] Chr4:168913931 [GRCh38]
Chr4:169835082 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2285T>C (p.Ile762Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003169007]|Inborn genetic diseases [RCV002537471]|Pancreatic adenocarcinoma [RCV000820456] Chr4:168898527 [GRCh38]
Chr4:169819678 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.3352G>A (p.Val1118Ile) single nucleotide variant Pancreatic adenocarcinoma [RCV001858877] Chr4:168925072 [GRCh38]
Chr4:169846223 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.3301G>A (p.Val1101Met) single nucleotide variant Pancreatic adenocarcinoma [RCV000816803]|not specified [RCV004028897] Chr4:168925021 [GRCh38]
Chr4:169846172 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.*400T>C single nucleotide variant Pancreatic cancer, susceptibility to, 1 [RCV001150071] Chr4:168926580 [GRCh38]
Chr4:169847731 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.*2171T>C single nucleotide variant Pancreatic cancer, susceptibility to, 1 [RCV001150188] Chr4:168928351 [GRCh38]
Chr4:169849502 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.*1655A>T single nucleotide variant Pancreatic cancer, susceptibility to, 1 [RCV001145839] Chr4:168927835 [GRCh38]
Chr4:169848986 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.3090T>G (p.Ile1030Met) single nucleotide variant Pancreatic adenocarcinoma [RCV000794779]|not specified [RCV004027503] Chr4:168924286 [GRCh38]
Chr4:169845437 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.3229C>T (p.His1077Tyr) single nucleotide variant Pancreatic adenocarcinoma [RCV000815300]|not specified [RCV004028847] Chr4:168924949 [GRCh38]
Chr4:169846100 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2251G>A (p.Glu751Lys) single nucleotide variant Pancreatic adenocarcinoma [RCV000810794]|not specified [RCV004028708] Chr4:168898493 [GRCh38]
Chr4:169819644 [GRCh37]
Chr4:4q32.3
uncertain significance
GRCh37/hg19 4q32.3-34.2(chr4:165069355-177189728)x3 copy number gain not provided [RCV000846267] Chr4:165069355..177189728 [GRCh37]
Chr4:4q32.3-34.2
pathogenic
NM_001166108.2(PALLD):c.*2027T>C single nucleotide variant Pancreatic cancer, susceptibility to, 1 [RCV001148606] Chr4:168928207 [GRCh38]
Chr4:169849358 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.*2141A>G single nucleotide variant Pancreatic cancer, susceptibility to, 1 [RCV001148607] Chr4:168928321 [GRCh38]
Chr4:169849472 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.*386T>C single nucleotide variant Pancreatic cancer, susceptibility to, 1 [RCV001150070] Chr4:168926566 [GRCh38]
Chr4:169847717 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.*1713T>C single nucleotide variant Pancreatic cancer, susceptibility to, 1 [RCV001145840] Chr4:168927893 [GRCh38]
Chr4:169849044 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2975C>T (p.Thr992Met) single nucleotide variant Pancreatic adenocarcinoma [RCV003102884]|not specified [RCV004063170] Chr4:168921658 [GRCh38]
Chr4:169842809 [GRCh37]
Chr4:4q32.3
likely benign|uncertain significance
GRCh37/hg19 4q31.3-35.2(chr4:151174061-190957473)x3 copy number gain not provided [RCV000849098] Chr4:151174061..190957473 [GRCh37]
Chr4:4q31.3-35.2
pathogenic
GRCh37/hg19 4q32.3-35.2(chr4:169607746-190957473)x3 copy number gain not provided [RCV000847360] Chr4:169607746..190957473 [GRCh37]
Chr4:4q32.3-35.2
pathogenic
NM_001166108.2(PALLD):c.3005T>C (p.Ile1002Thr) single nucleotide variant Pancreatic adenocarcinoma [RCV001220966] Chr4:168921688 [GRCh38]
Chr4:169842839 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.3185A>C (p.Lys1062Thr) single nucleotide variant Pancreatic adenocarcinoma [RCV001221563] Chr4:168924381 [GRCh38]
Chr4:169845532 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.3144_3145delinsCT (p.Arg1049Cys) indel Pancreatic adenocarcinoma [RCV001241025] Chr4:168924340..168924341 [GRCh38]
Chr4:169845491..169845492 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2674G>A (p.Gly892Ser) single nucleotide variant Pancreatic adenocarcinoma [RCV001226144]|not specified [RCV004032563] Chr4:168913978 [GRCh38]
Chr4:169835129 [GRCh37]
Chr4:4q32.3
uncertain significance
GRCh37/hg19 4q28.1-35.1(chr4:124873497-185278662)x3 copy number gain not provided [RCV000849686] Chr4:124873497..185278662 [GRCh37]
Chr4:4q28.1-35.1
pathogenic
NM_001166108.2(PALLD):c.*439T>C single nucleotide variant Pancreatic cancer, susceptibility to, 1 [RCV001150072] Chr4:168926619 [GRCh38]
Chr4:169847770 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.*994A>G single nucleotide variant Pancreatic cancer, susceptibility to, 1 [RCV001143947] Chr4:168927174 [GRCh38]
Chr4:169848325 [GRCh37]
Chr4:4q32.3
benign
NM_001166108.2(PALLD):c.2686C>T (p.Arg896Trp) single nucleotide variant Pancreatic adenocarcinoma [RCV002557181]|Pancreatic cancer, susceptibility to, 1 [RCV001148500]|not specified [RCV004032764] Chr4:168913990 [GRCh38]
Chr4:169835141 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.3058+150A>T single nucleotide variant not provided [RCV001666284] Chr4:168921891 [GRCh38]
Chr4:169843042 [GRCh37]
Chr4:4q32.3
benign
NM_001166108.2(PALLD):c.2851-108dup duplication not provided [RCV001718058] Chr4:168921406..168921407 [GRCh38]
Chr4:169842557..169842558 [GRCh37]
Chr4:4q32.3
benign
NM_001166108.2(PALLD):c.2251-55G>A single nucleotide variant not provided [RCV001609746] Chr4:168898438 [GRCh38]
Chr4:169819589 [GRCh37]
Chr4:4q32.3
benign
NM_001166108.2(PALLD):c.3224+149C>T single nucleotide variant not provided [RCV001617162] Chr4:168924569 [GRCh38]
Chr4:169845720 [GRCh37]
Chr4:4q32.3
benign
NM_001166108.2(PALLD):c.3358+7_3358+8dup duplication Pancreatic adenocarcinoma [RCV001414878] Chr4:168925084..168925085 [GRCh38]
Chr4:169846235..169846236 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.2304G>A (p.Arg768=) single nucleotide variant Pancreatic adenocarcinoma [RCV000887824]|not specified [RCV004028366] Chr4:168898546 [GRCh38]
Chr4:169819697 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.3226A>G (p.Met1076Val) single nucleotide variant Pancreatic adenocarcinoma [RCV001207249] Chr4:168924946 [GRCh38]
Chr4:169846097 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2704C>A (p.Pro902Thr) single nucleotide variant Pancreatic adenocarcinoma [RCV001034889] Chr4:168914008 [GRCh38]
Chr4:169835159 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.3282A>T (p.Glu1094Asp) single nucleotide variant Pancreatic adenocarcinoma [RCV001036773] Chr4:168925002 [GRCh38]
Chr4:169846153 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2199+277A>T single nucleotide variant not provided [RCV001635966] Chr4:168894954 [GRCh38]
Chr4:169816105 [GRCh37]
Chr4:4q32.3
benign
NM_001166108.2(PALLD):c.3058+28C>G single nucleotide variant not provided [RCV001669548] Chr4:168921769 [GRCh38]
Chr4:169842920 [GRCh37]
Chr4:4q32.3
benign
NM_001166108.2(PALLD):c.2623-30C>G single nucleotide variant not provided [RCV001686640] Chr4:168913897 [GRCh38]
Chr4:169835048 [GRCh37]
Chr4:4q32.3
benign
NM_001166108.2(PALLD):c.*33-237del deletion not provided [RCV001720411] Chr4:168925965 [GRCh38]
Chr4:169847116 [GRCh37]
Chr4:4q32.3
benign
NM_001166108.2(PALLD):c.*203T>A single nucleotide variant Pancreatic adenocarcinoma [RCV001066220] Chr4:168926383 [GRCh38]
Chr4:169847534 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.3058+84T>C single nucleotide variant not provided [RCV001691059] Chr4:168921825 [GRCh38]
Chr4:169842976 [GRCh37]
Chr4:4q32.3
benign
NM_001166108.2(PALLD):c.2717+152T>G single nucleotide variant not provided [RCV001680884] Chr4:168914173 [GRCh38]
Chr4:169835324 [GRCh37]
Chr4:4q32.3
benign
NM_001166108.2(PALLD):c.3358+26T>C single nucleotide variant not provided [RCV001681034] Chr4:168925104 [GRCh38]
Chr4:169846255 [GRCh37]
Chr4:4q32.3
benign
NM_001166108.2(PALLD):c.2851-108del deletion not provided [RCV001696298] Chr4:168921407 [GRCh38]
Chr4:169842558 [GRCh37]
Chr4:4q32.3
benign
NM_001166108.2(PALLD):c.2867C>T (p.Thr956Ile) single nucleotide variant Pancreatic adenocarcinoma [RCV001209825]|Pancreatic cancer, susceptibility to, 1 [RCV001148501] Chr4:168921550 [GRCh38]
Chr4:169842701 [GRCh37]
Chr4:4q32.3
likely benign|uncertain significance
NM_001166108.2(PALLD):c.2884C>G (p.Gln962Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002436832]|Inborn genetic diseases [RCV002561921]|Pancreatic adenocarcinoma [RCV001217304] Chr4:168921567 [GRCh38]
Chr4:169842718 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.*110G>C single nucleotide variant Pancreatic adenocarcinoma [RCV001207631] Chr4:168926290 [GRCh38]
Chr4:169847441 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.*461G>A single nucleotide variant Pancreatic cancer, susceptibility to, 1 [RCV001150073] Chr4:168926641 [GRCh38]
Chr4:169847792 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2761A>G (p.Ile921Val) single nucleotide variant Pancreatic adenocarcinoma [RCV001907591]|not specified [RCV004039772] Chr4:168915938 [GRCh38]
Chr4:169837089 [GRCh37]
Chr4:4q32.3
uncertain significance
GRCh37/hg19 4q32.3-35.2(chr4:165010461-190957473)x1 copy number loss not provided [RCV001005612] Chr4:165010461..190957473 [GRCh37]
Chr4:4q32.3-35.2
pathogenic
NM_001166108.2(PALLD):c.*194G>C single nucleotide variant Pancreatic adenocarcinoma [RCV001064251] Chr4:168926374 [GRCh38]
Chr4:169847525 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.3076C>A (p.Pro1026Thr) single nucleotide variant Pancreatic adenocarcinoma [RCV001230673]|not specified [RCV004033096] Chr4:168924272 [GRCh38]
Chr4:169845423 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2899C>T (p.Pro967Ser) single nucleotide variant Pancreatic adenocarcinoma [RCV001041385]|not specified [RCV004031247] Chr4:168921582 [GRCh38]
Chr4:169842733 [GRCh37]
Chr4:4q32.3
uncertain significance
GRCh37/hg19 4q32.3(chr4:169723708-169979856)x3 copy number gain not provided [RCV001259882] Chr4:169723708..169979856 [GRCh37]
Chr4:4q32.3
uncertain significance
GRCh37/hg19 4q32.3-35.1(chr4:169108358-184425536)x1 copy number loss See cases [RCV001263167] Chr4:169108358..184425536 [GRCh37]
Chr4:4q32.3-35.1
pathogenic
NM_001166108.2(PALLD):c.2542G>A (p.Asp848Asn) single nucleotide variant Pancreatic adenocarcinoma [RCV001296212]|not specified [RCV004036025] Chr4:168903826 [GRCh38]
Chr4:169824977 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2340A>C (p.Glu780Asp) single nucleotide variant Pancreatic adenocarcinoma [RCV001341456]|not specified [RCV004035965] Chr4:168898582 [GRCh38]
Chr4:169819733 [GRCh37]
Chr4:4q32.3
likely benign|uncertain significance
NM_001166108.2(PALLD):c.3046C>T (p.Leu1016Phe) single nucleotide variant Pancreatic adenocarcinoma [RCV001314396] Chr4:168921729 [GRCh38]
Chr4:169842880 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2264C>A (p.Ser755Tyr) single nucleotide variant Pancreatic adenocarcinoma [RCV001327339] Chr4:168898506 [GRCh38]
Chr4:169819657 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2999C>T (p.Thr1000Ile) single nucleotide variant Pancreatic adenocarcinoma [RCV001351329] Chr4:168921682 [GRCh38]
Chr4:169842833 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.*135C>T single nucleotide variant Pancreatic adenocarcinoma [RCV001343122] Chr4:168926315 [GRCh38]
Chr4:169847466 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.3059-6del deletion PALLD-related disorder [RCV003946004]|Pancreatic adenocarcinoma [RCV001342644] Chr4:168924246 [GRCh38]
Chr4:169845397 [GRCh37]
Chr4:4q32.3
likely benign|uncertain significance
NM_001166108.2(PALLD):c.*40G>C single nucleotide variant Pancreatic adenocarcinoma [RCV001372320] Chr4:168926220 [GRCh38]
Chr4:169847371 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2764C>G (p.Gln922Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003169803]|Inborn genetic diseases [RCV002550019]|Pancreatic adenocarcinoma [RCV001361603] Chr4:168915941 [GRCh38]
Chr4:169837092 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2477A>C (p.Tyr826Ser) single nucleotide variant Pancreatic adenocarcinoma [RCV001350870] Chr4:168903761 [GRCh38]
Chr4:169824912 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2804G>T (p.Gly935Val) single nucleotide variant Pancreatic adenocarcinoma [RCV001369123] Chr4:168915981 [GRCh38]
Chr4:169837132 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2914A>G (p.Ser972Gly) single nucleotide variant Pancreatic adenocarcinoma [RCV001304398]|not specified [RCV004036309] Chr4:168921597 [GRCh38]
Chr4:169842748 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2873A>C (p.Asp958Ala) single nucleotide variant Pancreatic adenocarcinoma [RCV001370110] Chr4:168921556 [GRCh38]
Chr4:169842707 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.3133C>T (p.Arg1045Trp) single nucleotide variant Pancreatic adenocarcinoma [RCV001373548]|not specified [RCV004037575] Chr4:168924329 [GRCh38]
Chr4:169845480 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2294T>C (p.Ile765Thr) single nucleotide variant Pancreatic adenocarcinoma [RCV001313062] Chr4:168898536 [GRCh38]
Chr4:169819687 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2549C>A (p.Thr850Asn) single nucleotide variant Pancreatic adenocarcinoma [RCV001296723]|not specified [RCV004036044] Chr4:168903833 [GRCh38]
Chr4:169824984 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2688G>T (p.Arg896=) single nucleotide variant Pancreatic adenocarcinoma [RCV001422508]|not specified [RCV004038202] Chr4:168913992 [GRCh38]
Chr4:169835143 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.3254G>C (p.Cys1085Ser) single nucleotide variant Pancreatic adenocarcinoma [RCV001317781]|not specified [RCV004034433] Chr4:168924974 [GRCh38]
Chr4:169846125 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2812A>T (p.Thr938Ser) single nucleotide variant Pancreatic adenocarcinoma [RCV001344226] Chr4:168915989 [GRCh38]
Chr4:169837140 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.*185G>T single nucleotide variant Pancreatic adenocarcinoma [RCV001345231] Chr4:168926365 [GRCh38]
Chr4:169847516 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.*161C>T single nucleotide variant Pancreatic adenocarcinoma [RCV001347595] Chr4:168926341 [GRCh38]
Chr4:169847492 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2864C>T (p.Pro955Leu) single nucleotide variant Pancreatic adenocarcinoma [RCV001372752]|not specified [RCV004037541] Chr4:168921547 [GRCh38]
Chr4:169842698 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2158G>A (p.Val720Ile) single nucleotide variant Pancreatic adenocarcinoma [RCV001313284]|not specified [RCV004034281] Chr4:168894636 [GRCh38]
Chr4:169815787 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2935C>T (p.Arg979Cys) single nucleotide variant Pancreatic adenocarcinoma [RCV001321186]|not specified [RCV004035026] Chr4:168921618 [GRCh38]
Chr4:169842769 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2790C>A (p.Phe930Leu) single nucleotide variant Pancreatic adenocarcinoma [RCV001323682]|not specified [RCV004035106] Chr4:168915967 [GRCh38]
Chr4:169837118 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2399T>C (p.Leu800Pro) single nucleotide variant Pancreatic adenocarcinoma [RCV001307259] Chr4:168898641 [GRCh38]
Chr4:169819792 [GRCh37]
Chr4:4q32.3
uncertain significance
GRCh37/hg19 4q32.1-34.1(chr4:157771352-172496278) copy number loss Autism with high cognitive abilities [RCV001352663] Chr4:157771352..172496278 [GRCh37]
Chr4:4q32.1-34.1
pathogenic
NM_001166108.2(PALLD):c.2584G>C (p.Asp862His) single nucleotide variant Pancreatic adenocarcinoma [RCV001366138] Chr4:168903868 [GRCh38]
Chr4:169825019 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.*33C>A single nucleotide variant Pancreatic adenocarcinoma [RCV001359033] Chr4:168926213 [GRCh38]
Chr4:169847364 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2625C>T (p.Gly875=) single nucleotide variant Pancreatic adenocarcinoma [RCV001412747]|not specified [RCV004038096] Chr4:168913929 [GRCh38]
Chr4:169835080 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.2275C>G (p.Gln759Glu) single nucleotide variant Pancreatic adenocarcinoma [RCV001365430] Chr4:168898517 [GRCh38]
Chr4:169819668 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.3335G>C (p.Cys1112Ser) single nucleotide variant Pancreatic adenocarcinoma [RCV001370569]|not specified [RCV004037475] Chr4:168925055 [GRCh38]
Chr4:169846206 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.3069A>G (p.Ala1023=) single nucleotide variant Pancreatic adenocarcinoma [RCV001461568] Chr4:168924265 [GRCh38]
Chr4:169845416 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.2169T>A (p.Ile723=) single nucleotide variant Pancreatic adenocarcinoma [RCV001457478] Chr4:168894647 [GRCh38]
Chr4:169815798 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.*109G>A single nucleotide variant Pancreatic adenocarcinoma [RCV001492232] Chr4:168926289 [GRCh38]
Chr4:169847440 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.3066A>G (p.Glu1022=) single nucleotide variant Pancreatic adenocarcinoma [RCV001438514]|not specified [RCV004038367] Chr4:168924262 [GRCh38]
Chr4:169845413 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.2988C>T (p.Ala996=) single nucleotide variant Pancreatic adenocarcinoma [RCV001435470]|not specified [RCV004038337] Chr4:168921671 [GRCh38]
Chr4:169842822 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.2550C>G (p.Thr850=) single nucleotide variant Pancreatic adenocarcinoma [RCV001473402] Chr4:168903834 [GRCh38]
Chr4:169824985 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.2586T>C (p.Asp862=) single nucleotide variant Pancreatic adenocarcinoma [RCV001491725]|not specified [RCV004037317] Chr4:168903870 [GRCh38]
Chr4:169825021 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.2901C>T (p.Pro967=) single nucleotide variant Pancreatic adenocarcinoma [RCV001463895]|not specified [RCV004038626] Chr4:168921584 [GRCh38]
Chr4:169842735 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.3258G>A (p.Leu1086=) single nucleotide variant Pancreatic adenocarcinoma [RCV001403180]|not specified [RCV004037985] Chr4:168924978 [GRCh38]
Chr4:169846129 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.2851-10T>C single nucleotide variant Pancreatic adenocarcinoma [RCV001446912] Chr4:168921524 [GRCh38]
Chr4:169842675 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.3177T>C (p.Phe1059=) single nucleotide variant Pancreatic adenocarcinoma [RCV001426899]|not provided [RCV003438790]|not specified [RCV004038242] Chr4:168924373 [GRCh38]
Chr4:169845524 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.2133A>G (p.Arg711=) single nucleotide variant Pancreatic adenocarcinoma [RCV001434992] Chr4:168894611 [GRCh38]
Chr4:169815762 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.2851-6A>G single nucleotide variant Pancreatic adenocarcinoma [RCV001454755] Chr4:168921528 [GRCh38]
Chr4:169842679 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.2961C>T (p.Ile987=) single nucleotide variant Pancreatic adenocarcinoma [RCV001457711] Chr4:168921644 [GRCh38]
Chr4:169842795 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.2718-85T>C single nucleotide variant not provided [RCV001667460] Chr4:168915810 [GRCh38]
Chr4:169836961 [GRCh37]
Chr4:4q32.3
benign
NM_001166108.2(PALLD):c.2862A>G (p.Leu954=) single nucleotide variant Pancreatic adenocarcinoma [RCV001472820]|not specified [RCV004037133] Chr4:168921545 [GRCh38]
Chr4:169842696 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.3016C>A (p.Arg1006=) single nucleotide variant Pancreatic adenocarcinoma [RCV001439859]|not specified [RCV004038376] Chr4:168921699 [GRCh38]
Chr4:169842850 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.2319T>C (p.Pro773=) single nucleotide variant Pancreatic adenocarcinoma [RCV001495981]|not specified [RCV004037357] Chr4:168898561 [GRCh38]
Chr4:169819712 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.3243C>T (p.His1081=) single nucleotide variant PALLD-related disorder [RCV003938814]|Pancreatic adenocarcinoma [RCV001453291]|not specified [RCV004038520] Chr4:168924963 [GRCh38]
Chr4:169846114 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.2268C>T (p.Ser756=) single nucleotide variant Pancreatic adenocarcinoma [RCV001423285]|not specified [RCV004038210] Chr4:168898510 [GRCh38]
Chr4:169819661 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.2922C>T (p.His974=) single nucleotide variant Pancreatic adenocarcinoma [RCV001430207]|not specified [RCV004038282] Chr4:168921605 [GRCh38]
Chr4:169842756 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.2916T>C (p.Ser972=) single nucleotide variant Pancreatic adenocarcinoma [RCV001461667] Chr4:168921599 [GRCh38]
Chr4:169842750 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.2482T>C (p.Phe828Leu) single nucleotide variant Pancreatic adenocarcinoma [RCV002044770] Chr4:168903766 [GRCh38]
Chr4:169824917 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2156C>T (p.Thr719Ile) single nucleotide variant Pancreatic adenocarcinoma [RCV001988442]|not specified [RCV004045249] Chr4:168894634 [GRCh38]
Chr4:169815785 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.3139G>A (p.Glu1047Lys) single nucleotide variant Pancreatic adenocarcinoma [RCV002025261] Chr4:168924335 [GRCh38]
Chr4:169845486 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2810T>A (p.Leu937Gln) single nucleotide variant Pancreatic adenocarcinoma [RCV001874855]|not specified [RCV004040567] Chr4:168915987 [GRCh38]
Chr4:169837138 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.*41C>T single nucleotide variant Pancreatic adenocarcinoma [RCV001895149] Chr4:168926221 [GRCh38]
Chr4:169847372 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.3244G>A (p.Gly1082Ser) single nucleotide variant Pancreatic adenocarcinoma [RCV001913887] Chr4:168924964 [GRCh38]
Chr4:169846115 [GRCh37]
Chr4:4q32.3
uncertain significance
GRCh37/hg19 4q32.1-35.2(chr4:159755174-190225765) copy number gain not specified [RCV002053465] Chr4:159755174..190225765 [GRCh37]
Chr4:4q32.1-35.2
pathogenic
NM_001166108.2(PALLD):c.*71A>G single nucleotide variant Pancreatic adenocarcinoma [RCV001946551] Chr4:168926251 [GRCh38]
Chr4:169847402 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.*33C>T single nucleotide variant Pancreatic adenocarcinoma [RCV001911931] Chr4:168926213 [GRCh38]
Chr4:169847364 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2723G>C (p.Arg908Pro) single nucleotide variant Pancreatic adenocarcinoma [RCV002043997] Chr4:168915900 [GRCh38]
Chr4:169837051 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2923A>G (p.Lys975Glu) single nucleotide variant Pancreatic adenocarcinoma [RCV001912049]|not specified [RCV004041077] Chr4:168921606 [GRCh38]
Chr4:169842757 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2535A>T (p.Arg845Ser) single nucleotide variant Pancreatic adenocarcinoma [RCV001964654]|not specified [RCV004041805] Chr4:168903819 [GRCh38]
Chr4:169824970 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.3089T>C (p.Ile1030Thr) single nucleotide variant Pancreatic adenocarcinoma [RCV001986355] Chr4:168924285 [GRCh38]
Chr4:169845436 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.3224+14A>G single nucleotide variant Pancreatic adenocarcinoma [RCV001871401] Chr4:168924434 [GRCh38]
Chr4:169845585 [GRCh37]
Chr4:4q32.3
likely benign|uncertain significance
NM_001166108.2(PALLD):c.2987C>T (p.Ala996Val) single nucleotide variant Pancreatic adenocarcinoma [RCV001926636]|not specified [RCV004044272] Chr4:168921670 [GRCh38]
Chr4:169842821 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2101-3T>C single nucleotide variant Pancreatic adenocarcinoma [RCV001969617] Chr4:168894576 [GRCh38]
Chr4:169815727 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2771G>A (p.Arg924Gln) single nucleotide variant Pancreatic adenocarcinoma [RCV001947272]|not specified [RCV004040393] Chr4:168915948 [GRCh38]
Chr4:169837099 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2722C>T (p.Arg908Cys) single nucleotide variant Pancreatic adenocarcinoma [RCV001919181]|not specified [RCV004043378] Chr4:168915899 [GRCh38]
Chr4:169837050 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2890G>C (p.Asp964His) single nucleotide variant Pancreatic adenocarcinoma [RCV001886698] Chr4:168921573 [GRCh38]
Chr4:169842724 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2719C>G (p.Pro907Ala) single nucleotide variant Pancreatic adenocarcinoma [RCV001880716] Chr4:168915896 [GRCh38]
Chr4:169837047 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2275C>A (p.Gln759Lys) single nucleotide variant Pancreatic adenocarcinoma [RCV001944305] Chr4:168898517 [GRCh38]
Chr4:169819668 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2858G>A (p.Gly953Glu) single nucleotide variant Pancreatic adenocarcinoma [RCV002038729]|not specified [RCV004044805] Chr4:168921541 [GRCh38]
Chr4:169842692 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.3158T>C (p.Val1053Ala) single nucleotide variant Pancreatic adenocarcinoma [RCV002037991]|not specified [RCV004043240] Chr4:168924354 [GRCh38]
Chr4:169845505 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2740A>G (p.Ser914Gly) single nucleotide variant Pancreatic adenocarcinoma [RCV001904275]|not specified [RCV004039672] Chr4:168915917 [GRCh38]
Chr4:169837068 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2797G>A (p.Ala933Thr) single nucleotide variant Pancreatic adenocarcinoma [RCV002014127]|not specified [RCV004046682] Chr4:168915974 [GRCh38]
Chr4:169837125 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2901C>G (p.Pro967=) single nucleotide variant Pancreatic adenocarcinoma [RCV001979299] Chr4:168921584 [GRCh38]
Chr4:169842735 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.*69A>T single nucleotide variant Pancreatic adenocarcinoma [RCV002051031] Chr4:168926249 [GRCh38]
Chr4:169847400 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2704C>T (p.Pro902Ser) single nucleotide variant Pancreatic adenocarcinoma [RCV001879539] Chr4:168914008 [GRCh38]
Chr4:169835159 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2338G>C (p.Glu780Gln) single nucleotide variant Pancreatic adenocarcinoma [RCV001977712] Chr4:168898580 [GRCh38]
Chr4:169819731 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.3107C>T (p.Thr1036Ile) single nucleotide variant Pancreatic adenocarcinoma [RCV001882082] Chr4:168924303 [GRCh38]
Chr4:169845454 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.3358+17C>T single nucleotide variant Pancreatic adenocarcinoma [RCV001934884] Chr4:168925095 [GRCh38]
Chr4:169846246 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.3357C>T (p.Tyr1119=) single nucleotide variant Pancreatic adenocarcinoma [RCV001937890]|not specified [RCV004042757] Chr4:168925077 [GRCh38]
Chr4:169846228 [GRCh37]
Chr4:4q32.3
likely benign|uncertain significance
NM_001166108.2(PALLD):c.2507C>G (p.Pro836Arg) single nucleotide variant Pancreatic adenocarcinoma [RCV001957772] Chr4:168903791 [GRCh38]
Chr4:169824942 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2803G>A (p.Gly935Arg) single nucleotide variant Pancreatic adenocarcinoma [RCV001902456] Chr4:168915980 [GRCh38]
Chr4:169837131 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2701C>T (p.His901Tyr) single nucleotide variant Pancreatic adenocarcinoma [RCV001976303] Chr4:168914005 [GRCh38]
Chr4:169835156 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2894G>A (p.Gly965Glu) single nucleotide variant Pancreatic adenocarcinoma [RCV001916234]|not specified [RCV004042864] Chr4:168921577 [GRCh38]
Chr4:169842728 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2438T>G (p.Phe813Cys) single nucleotide variant Pancreatic adenocarcinoma [RCV001960064]|not specified [RCV004042086] Chr4:168898680 [GRCh38]
Chr4:169819831 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.3134G>A (p.Arg1045Gln) single nucleotide variant Pancreatic adenocarcinoma [RCV002019553]|not specified [RCV004045904] Chr4:168924330 [GRCh38]
Chr4:169845481 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.3238A>C (p.Asn1080His) single nucleotide variant Pancreatic adenocarcinoma [RCV002014042]|not specified [RCV004046678] Chr4:168924958 [GRCh38]
Chr4:169846109 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2981G>A (p.Arg994His) single nucleotide variant Pancreatic adenocarcinoma [RCV002050788]|not specified [RCV004038795] Chr4:168921664 [GRCh38]
Chr4:169842815 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2125G>A (p.Ala709Thr) single nucleotide variant Pancreatic adenocarcinoma [RCV001957114] Chr4:168894603 [GRCh38]
Chr4:169815754 [GRCh37]
Chr4:4q32.3
uncertain significance
NC_000004.11:g.(?_169799043)_(170523781_?)dup duplication Short-rib thoracic dysplasia 6 with or without polydactyly [RCV002030112] Chr4:169799043..170523781 [GRCh37]
Chr4:4q32.3-33
uncertain significance
NM_001166108.2(PALLD):c.2148C>T (p.Asp716=) single nucleotide variant Pancreatic adenocarcinoma [RCV002090473]|not specified [RCV004045736] Chr4:168894626 [GRCh38]
Chr4:169815777 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.2850+15T>C single nucleotide variant Pancreatic adenocarcinoma [RCV002087455] Chr4:168916042 [GRCh38]
Chr4:169837193 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.*43T>C single nucleotide variant Pancreatic adenocarcinoma [RCV002168753] Chr4:168926223 [GRCh38]
Chr4:169847374 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.*124C>T single nucleotide variant Pancreatic adenocarcinoma [RCV002205245] Chr4:168926304 [GRCh38]
Chr4:169847455 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.*172G>A single nucleotide variant Pancreatic adenocarcinoma [RCV002091462] Chr4:168926352 [GRCh38]
Chr4:169847503 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.2473-4A>G single nucleotide variant Pancreatic adenocarcinoma [RCV002184983] Chr4:168903753 [GRCh38]
Chr4:169824904 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.2466G>A (p.Lys822=) single nucleotide variant Pancreatic adenocarcinoma [RCV002191797]|not specified [RCV004047132] Chr4:168898708 [GRCh38]
Chr4:169819859 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.3288T>C (p.Ala1096=) single nucleotide variant Pancreatic adenocarcinoma [RCV002129472]|not specified [RCV004046303] Chr4:168925008 [GRCh38]
Chr4:169846159 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.2517T>C (p.Asp839=) single nucleotide variant Pancreatic adenocarcinoma [RCV002169620]|not specified [RCV004044989] Chr4:168903801 [GRCh38]
Chr4:169824952 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.2745A>G (p.Gly915=) single nucleotide variant Pancreatic adenocarcinoma [RCV002114502]|not specified [RCV004046523] Chr4:168915922 [GRCh38]
Chr4:169837073 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.*67A>G single nucleotide variant Pancreatic adenocarcinoma [RCV002104812] Chr4:168926247 [GRCh38]
Chr4:169847398 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.2472+13A>G single nucleotide variant Pancreatic adenocarcinoma [RCV002160830] Chr4:168898727 [GRCh38]
Chr4:169819878 [GRCh37]
Chr4:4q32.3
benign
NM_001166108.2(PALLD):c.2101-11_2101-10del deletion Pancreatic adenocarcinoma [RCV002178638] Chr4:168894568..168894569 [GRCh38]
Chr4:169815719..169815720 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.2874T>C (p.Asp958=) single nucleotide variant Pancreatic adenocarcinoma [RCV002177890]|not specified [RCV004045072] Chr4:168921557 [GRCh38]
Chr4:169842708 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.2382A>G (p.Pro794=) single nucleotide variant Pancreatic adenocarcinoma [RCV002139371]|not specified [RCV004046351] Chr4:168898624 [GRCh38]
Chr4:169819775 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.*100A>G single nucleotide variant Pancreatic adenocarcinoma [RCV002121439] Chr4:168926280 [GRCh38]
Chr4:169847431 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.2623-8T>C single nucleotide variant Pancreatic adenocarcinoma [RCV002182899] Chr4:168913919 [GRCh38]
Chr4:169835070 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.2622+8A>G single nucleotide variant Pancreatic adenocarcinoma [RCV002183271] Chr4:168903914 [GRCh38]
Chr4:169825065 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.2850+8T>G single nucleotide variant Pancreatic adenocarcinoma [RCV002139769] Chr4:168916035 [GRCh38]
Chr4:169837186 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.2904A>G (p.Val968=) single nucleotide variant Pancreatic adenocarcinoma [RCV002138188]|not specified [RCV004046596] Chr4:168921587 [GRCh38]
Chr4:169842738 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.*33-14C>G single nucleotide variant Pancreatic adenocarcinoma [RCV002219697] Chr4:168926199 [GRCh38]
Chr4:169847350 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.*196G>A single nucleotide variant Pancreatic adenocarcinoma [RCV002178793] Chr4:168926376 [GRCh38]
Chr4:169847527 [GRCh37]
Chr4:4q32.3
likely benign
NC_000004.11:g.(?_169433478)_(170523781_?)del deletion Short-rib thoracic dysplasia 6 with or without polydactyly [RCV003116571] Chr4:169433478..170523781 [GRCh37]
Chr4:4q32.3-33
pathogenic
NM_001166108.2(PALLD):c.2361T>C (p.Pro787=) single nucleotide variant not specified [RCV004328016] Chr4:168898603 [GRCh38]
Chr4:169819754 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.3318A>C (p.Glu1106Asp) single nucleotide variant not specified [RCV004328018] Chr4:168925038 [GRCh38]
Chr4:169846189 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2301C>T (p.Tyr767=) single nucleotide variant not specified [RCV004328019] Chr4:168898543 [GRCh38]
Chr4:169819694 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.2875C>A (p.Leu959Ile) single nucleotide variant not specified [RCV004062331] Chr4:168921558 [GRCh38]
Chr4:169842709 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2887C>G (p.Leu963Val) single nucleotide variant not specified [RCV004062368] Chr4:168921570 [GRCh38]
Chr4:169842721 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2891A>T (p.Asp964Val) single nucleotide variant not specified [RCV004062386] Chr4:168921574 [GRCh38]
Chr4:169842725 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2898G>C (p.Lys966Asn) single nucleotide variant not specified [RCV004062405] Chr4:168921581 [GRCh38]
Chr4:169842732 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2559C>G (p.Leu853=) single nucleotide variant not specified [RCV004062044] Chr4:168903843 [GRCh38]
Chr4:169824994 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.2873A>G (p.Asp958Gly) single nucleotide variant not specified [RCV004062322] Chr4:168921556 [GRCh38]
Chr4:169842707 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.3048T>C (p.Leu1016=) single nucleotide variant not specified [RCV004065468] Chr4:168921731 [GRCh38]
Chr4:169842882 [GRCh37]
Chr4:4q32.3
likely benign
GRCh37/hg19 4q32.1-35.2(chr4:159174483-190957473)x1 copy number loss See cases [RCV002292401] Chr4:159174483..190957473 [GRCh37]
Chr4:4q32.1-35.2
pathogenic
NM_001166108.2(PALLD):c.2714G>C (p.Arg905Thr) single nucleotide variant not specified [RCV004063572] Chr4:168914018 [GRCh38]
Chr4:169835169 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.3065A>C (p.Glu1022Ala) single nucleotide variant not specified [RCV004065515] Chr4:168924261 [GRCh38]
Chr4:169845412 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2891A>G (p.Asp964Gly) single nucleotide variant not specified [RCV004062385] Chr4:168921574 [GRCh38]
Chr4:169842725 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.3070C>T (p.His1024Tyr) single nucleotide variant not specified [RCV004065526] Chr4:168924266 [GRCh38]
Chr4:169845417 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2790C>T (p.Phe930=) single nucleotide variant not specified [RCV004064059] Chr4:168915967 [GRCh38]
Chr4:169837118 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.2945G>A (p.Gly982Glu) single nucleotide variant not specified [RCV004063075] Chr4:168921628 [GRCh38]
Chr4:169842779 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2287A>G (p.Ser763Gly) single nucleotide variant not specified [RCV004061861] Chr4:168898529 [GRCh38]
Chr4:169819680 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2289T>C (p.Ser763=) single nucleotide variant not specified [RCV004061869] Chr4:168898531 [GRCh38]
Chr4:169819682 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.2952C>T (p.His984=) single nucleotide variant not specified [RCV004063105] Chr4:168921635 [GRCh38]
Chr4:169842786 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.3077C>G (p.Pro1026Arg) single nucleotide variant not specified [RCV004599410] Chr4:168924273 [GRCh38]
Chr4:169845424 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2295A>G (p.Ile765Met) single nucleotide variant not specified [RCV004061891] Chr4:168898537 [GRCh38]
Chr4:169819688 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2928G>A (p.Met976Ile) single nucleotide variant not specified [RCV004063010] Chr4:168921611 [GRCh38]
Chr4:169842762 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2661T>C (p.Ala887=) single nucleotide variant not specified [RCV004062929] Chr4:168913965 [GRCh38]
Chr4:169835116 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.2669A>G (p.Gln890Arg) single nucleotide variant Pancreatic adenocarcinoma [RCV003585274]|not specified [RCV004062950] Chr4:168913973 [GRCh38]
Chr4:169835124 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2659G>A (p.Ala887Thr) single nucleotide variant not specified [RCV004062915] Chr4:168913963 [GRCh38]
Chr4:169835114 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2640T>C (p.Thr880=) single nucleotide variant not specified [RCV004062839] Chr4:168913944 [GRCh38]
Chr4:169835095 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.2685C>G (p.Pro895=) single nucleotide variant not specified [RCV004063008] Chr4:168913989 [GRCh38]
Chr4:169835140 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.3067G>A (p.Ala1023Thr) single nucleotide variant not specified [RCV004065520] Chr4:168924263 [GRCh38]
Chr4:169845414 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2735G>C (p.Arg912Thr) single nucleotide variant not specified [RCV004063634] Chr4:168915912 [GRCh38]
Chr4:169837063 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2946G>A (p.Gly982=) single nucleotide variant not specified [RCV004063077] Chr4:168921629 [GRCh38]
Chr4:169842780 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.3349G>T (p.Asp1117Tyr) single nucleotide variant not specified [RCV004049484] Chr4:168925069 [GRCh38]
Chr4:169846220 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2758C>T (p.Pro920Ser) single nucleotide variant not specified [RCV004063705] Chr4:168915935 [GRCh38]
Chr4:169837086 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.3365G>A (p.Arg1122Gln) single nucleotide variant PALLD-related disorder [RCV003960997]|not specified [RCV004049532] Chr4:168925239 [GRCh38]
Chr4:169846390 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.2687G>C (p.Arg896Pro) single nucleotide variant not specified [RCV004063487] Chr4:168913991 [GRCh38]
Chr4:169835142 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2687G>T (p.Arg896Leu) single nucleotide variant not specified [RCV004063488] Chr4:168913991 [GRCh38]
Chr4:169835142 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2781A>G (p.Arg927=) single nucleotide variant not specified [RCV004064030] Chr4:168915958 [GRCh38]
Chr4:169837109 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.2936G>A (p.Arg979His) single nucleotide variant not specified [RCV004063044] Chr4:168921619 [GRCh38]
Chr4:169842770 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2943C>T (p.Asn981=) single nucleotide variant Pancreatic adenocarcinoma [RCV003102843]|not specified [RCV004063071] Chr4:168921626 [GRCh38]
Chr4:169842777 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.2787C>G (p.His929Gln) single nucleotide variant not specified [RCV004599401] Chr4:168915964 [GRCh38]
Chr4:169837115 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2951A>G (p.His984Arg) single nucleotide variant Pancreatic adenocarcinoma [RCV003102856]|not specified [RCV004063102] Chr4:168921634 [GRCh38]
Chr4:169842785 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.3344G>A (p.Arg1115Lys) single nucleotide variant Pancreatic adenocarcinoma [RCV003099369]|not specified [RCV004049476] Chr4:168925064 [GRCh38]
Chr4:169846215 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.3057T>C (p.Ala1019=) single nucleotide variant not specified [RCV004065494] Chr4:168921740 [GRCh38]
Chr4:169842891 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.2179G>A (p.Glu727Lys) single nucleotide variant not specified [RCV004331305] Chr4:168894657 [GRCh38]
Chr4:169815808 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.3345G>A (p.Arg1115=) single nucleotide variant not specified [RCV004331334] Chr4:168925065 [GRCh38]
Chr4:169846216 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.2113G>A (p.Glu705Lys) single nucleotide variant not specified [RCV004060376] Chr4:168894591 [GRCh38]
Chr4:169815742 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2116G>A (p.Glu706Lys) single nucleotide variant not specified [RCV004060383] Chr4:168894594 [GRCh38]
Chr4:169815745 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2171A>T (p.Gln724Leu) single nucleotide variant not specified [RCV004061111] Chr4:168894649 [GRCh38]
Chr4:169815800 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2538T>C (p.Asp846=) single nucleotide variant not specified [RCV004328012] Chr4:168903822 [GRCh38]
Chr4:169824973 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.2323G>A (p.Asp775Asn) single nucleotide variant not specified [RCV004062509] Chr4:168898565 [GRCh38]
Chr4:169819716 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2128C>T (p.Arg710Cys) single nucleotide variant Pancreatic adenocarcinoma [RCV003585269]|not specified [RCV004060431] Chr4:168894606 [GRCh38]
Chr4:169815757 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2129G>A (p.Arg710His) single nucleotide variant Pancreatic adenocarcinoma [RCV003775106]|not specified [RCV004599380] Chr4:168894607 [GRCh38]
Chr4:169815758 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2644C>A (p.Arg882=) single nucleotide variant not specified [RCV004062856] Chr4:168913948 [GRCh38]
Chr4:169835099 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.2130T>A (p.Arg710=) single nucleotide variant not specified [RCV004060445] Chr4:168894608 [GRCh38]
Chr4:169815759 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.2136G>A (p.Leu712=) single nucleotide variant not specified [RCV004060466] Chr4:168894614 [GRCh38]
Chr4:169815765 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.3195A>G (p.Glu1065=) single nucleotide variant not specified [RCV004048457] Chr4:168924391 [GRCh38]
Chr4:169845542 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.2473A>G (p.Ile825Val) single nucleotide variant not specified [RCV004063741] Chr4:168903757 [GRCh38]
Chr4:169824908 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2593A>T (p.Asn865Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002455797]|Inborn genetic diseases [RCV003101948] Chr4:168903877 [GRCh38]
Chr4:169825028 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2580A>G (p.Leu860=) single nucleotide variant not specified [RCV004062104] Chr4:168903864 [GRCh38]
Chr4:169825015 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.3338C>T (p.Thr1113Ile) single nucleotide variant Pancreatic adenocarcinoma [RCV003585250]|not specified [RCV004049455] Chr4:168925058 [GRCh38]
Chr4:169846209 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2541C>G (p.Leu847=) single nucleotide variant Pancreatic adenocarcinoma [RCV003585273]|not specified [RCV004063995] Chr4:168903825 [GRCh38]
Chr4:169824976 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.2270G>C (p.Cys757Ser) single nucleotide variant not specified [RCV004061793] Chr4:168898512 [GRCh38]
Chr4:169819663 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.3222G>C (p.Val1074=) single nucleotide variant Pancreatic adenocarcinoma [RCV003102320]|not specified [RCV004048829] Chr4:168924418 [GRCh38]
Chr4:169845569 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.3223A>C (p.Ser1075Arg) single nucleotide variant not specified [RCV004048830] Chr4:168924419 [GRCh38]
Chr4:169845570 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.3151T>C (p.Leu1051=) single nucleotide variant not specified [RCV004048339] Chr4:168924347 [GRCh38]
Chr4:169845498 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.2405A>C (p.His802Pro) single nucleotide variant not specified [RCV004063258] Chr4:168898647 [GRCh38]
Chr4:169819798 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2188A>C (p.Thr730Pro) single nucleotide variant not specified [RCV004061166] Chr4:168894666 [GRCh38]
Chr4:169815817 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.3015C>G (p.Asn1005Lys) single nucleotide variant not specified [RCV004065371] Chr4:168921698 [GRCh38]
Chr4:169842849 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.3320C>T (p.Ala1107Val) single nucleotide variant not specified [RCV004049400] Chr4:168925040 [GRCh38]
Chr4:169846191 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2153C>T (p.Ala718Val) single nucleotide variant Pancreatic adenocarcinoma [RCV003585270]|not specified [RCV004061042] Chr4:168894631 [GRCh38]
Chr4:169815782 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.3017G>C (p.Arg1006Pro) single nucleotide variant not specified [RCV004065382] Chr4:168921700 [GRCh38]
Chr4:169842851 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2349T>C (p.Tyr783=) single nucleotide variant not specified [RCV004062596] Chr4:168898591 [GRCh38]
Chr4:169819742 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.2831T>A (p.Leu944His) single nucleotide variant not specified [RCV004064202] Chr4:168916008 [GRCh38]
Chr4:169837159 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2746G>A (p.Asp916Asn) single nucleotide variant not specified [RCV004063671] Chr4:168915923 [GRCh38]
Chr4:169837074 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2502C>G (p.Ile834Met) single nucleotide variant not specified [RCV004063868] Chr4:168903786 [GRCh38]
Chr4:169824937 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2354A>C (p.Asp785Ala) single nucleotide variant not specified [RCV004062625] Chr4:168898596 [GRCh38]
Chr4:169819747 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.3130G>A (p.Val1044Met) single nucleotide variant not specified [RCV004048259] Chr4:168924326 [GRCh38]
Chr4:169845477 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.3099C>A (p.Leu1033=) single nucleotide variant not specified [RCV004066375] Chr4:168924295 [GRCh38]
Chr4:169845446 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.2758C>A (p.Pro920Thr) single nucleotide variant not specified [RCV004063703] Chr4:168915935 [GRCh38]
Chr4:169837086 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2538T>A (p.Asp846Glu) single nucleotide variant not specified [RCV004063988] Chr4:168903822 [GRCh38]
Chr4:169824973 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2556C>G (p.Ser852=) single nucleotide variant not specified [RCV004062035] Chr4:168903840 [GRCh38]
Chr4:169824991 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.2181A>G (p.Glu727=) single nucleotide variant not specified [RCV004061146] Chr4:168894659 [GRCh38]
Chr4:169815810 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.2370T>C (p.Asn790=) single nucleotide variant Pancreatic adenocarcinoma [RCV003585272]|not specified [RCV004062675] Chr4:168898612 [GRCh38]
Chr4:169819763 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.2563A>T (p.Thr855Ser) single nucleotide variant not specified [RCV004062061] Chr4:168903847 [GRCh38]
Chr4:169824998 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.3108A>G (p.Thr1036=) single nucleotide variant not specified [RCV004066399] Chr4:168924304 [GRCh38]
Chr4:169845455 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.2171A>G (p.Gln724Arg) single nucleotide variant not specified [RCV004061110] Chr4:168894649 [GRCh38]
Chr4:169815800 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2552G>T (p.Cys851Phe) single nucleotide variant Pancreatic adenocarcinoma [RCV003101897]|not specified [RCV004062027] Chr4:168903836 [GRCh38]
Chr4:169824987 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2372G>T (p.Gly791Val) single nucleotide variant not specified [RCV004062680] Chr4:168898614 [GRCh38]
Chr4:169819765 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.3189A>G (p.Glu1063=) single nucleotide variant not specified [RCV004048437] Chr4:168924385 [GRCh38]
Chr4:169845536 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.3229C>A (p.His1077Asn) single nucleotide variant not specified [RCV004048842] Chr4:168924949 [GRCh38]
Chr4:169846100 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2336A>G (p.Asp779Gly) single nucleotide variant not specified [RCV004062549] Chr4:168898578 [GRCh38]
Chr4:169819729 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2176C>G (p.Pro726Ala) single nucleotide variant Pancreatic adenocarcinoma [RCV003746644]|not specified [RCV004061127] Chr4:168894654 [GRCh38]
Chr4:169815805 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2575A>G (p.Thr859Ala) single nucleotide variant not specified [RCV004062092] Chr4:168903859 [GRCh38]
Chr4:169825010 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2395A>G (p.Lys799Glu) single nucleotide variant not specified [RCV004063229] Chr4:168898637 [GRCh38]
Chr4:169819788 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2681G>C (p.Ser894Thr) single nucleotide variant not specified [RCV004062995] Chr4:168913985 [GRCh38]
Chr4:169835136 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2383T>C (p.Phe795Leu) single nucleotide variant not specified [RCV004062716] Chr4:168898625 [GRCh38]
Chr4:169819776 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2266A>G (p.Ser756Gly) single nucleotide variant Pancreatic adenocarcinoma [RCV003098721]|not specified [RCV004061779] Chr4:168898508 [GRCh38]
Chr4:169819659 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2619T>C (p.Pro873=) single nucleotide variant not specified [RCV004062765] Chr4:168903903 [GRCh38]
Chr4:169825054 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.3167C>T (p.Pro1056Leu) single nucleotide variant Pancreatic adenocarcinoma [RCV003099211]|not specified [RCV004048381] Chr4:168924363 [GRCh38]
Chr4:169845514 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2271T>C (p.Cys757=) single nucleotide variant not specified [RCV004061804] Chr4:168898513 [GRCh38]
Chr4:169819664 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.2814T>C (p.Thr938=) single nucleotide variant not specified [RCV004064156] Chr4:168915991 [GRCh38]
Chr4:169837142 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.2427G>A (p.Met809Ile) single nucleotide variant not specified [RCV004063339] Chr4:168898669 [GRCh38]
Chr4:169819820 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2429C>A (p.Pro810Gln) single nucleotide variant Pancreatic adenocarcinoma [RCV003746645]|not specified [RCV004063346] Chr4:168898671 [GRCh38]
Chr4:169819822 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2832C>T (p.Leu944=) single nucleotide variant not specified [RCV004064205] Chr4:168916009 [GRCh38]
Chr4:169837160 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.3268G>C (p.Gly1090Arg) single nucleotide variant not specified [RCV004048991] Chr4:168924988 [GRCh38]
Chr4:169846139 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2359C>T (p.Pro787Ser) single nucleotide variant not specified [RCV004062637] Chr4:168898601 [GRCh38]
Chr4:169819752 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.2955T>G (p.Ser985=) single nucleotide variant not specified [RCV004063113] Chr4:168921638 [GRCh38]
Chr4:169842789 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.2959A>T (p.Ile987Phe) single nucleotide variant not specified [RCV004063125] Chr4:168921642 [GRCh38]
Chr4:169842793 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.3212C>A (p.Thr1071Asn) single nucleotide variant not specified [RCV004048507] Chr4:168924408 [GRCh38]
Chr4:169845559 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2490T>C (p.Asp830=) single nucleotide variant not specified [RCV004063811] Chr4:168903774 [GRCh38]
Chr4:169824925 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.3000A>G (p.Thr1000=) single nucleotide variant not specified [RCV004065313] Chr4:168921683 [GRCh38]
Chr4:169842834 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.2635T>A (p.Cys879Ser) single nucleotide variant not specified [RCV004062822] Chr4:168913939 [GRCh38]
Chr4:169835090 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.3215A>C (p.Asp1072Ala) single nucleotide variant not specified [RCV004048805] Chr4:168924411 [GRCh38]
Chr4:169845562 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2302A>C (p.Arg768=) single nucleotide variant not specified [RCV004061912] Chr4:168898544 [GRCh38]
Chr4:169819695 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.2707C>T (p.His903Tyr) single nucleotide variant not specified [RCV004063551] Chr4:168914011 [GRCh38]
Chr4:169835162 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2493G>A (p.Gly831=) single nucleotide variant not specified [RCV004063830] Chr4:168903777 [GRCh38]
Chr4:169824928 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.3148G>A (p.Val1050Ile) single nucleotide variant not specified [RCV004048307] Chr4:168924344 [GRCh38]
Chr4:169845495 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.3150A>T (p.Val1050=) single nucleotide variant not specified [RCV004048311] Chr4:168924346 [GRCh38]
Chr4:169845497 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.2988C>G (p.Ala996=) single nucleotide variant not specified [RCV004063196] Chr4:168921671 [GRCh38]
Chr4:169842822 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.2867C>A (p.Thr956Asn) single nucleotide variant not specified [RCV004062304] Chr4:168921550 [GRCh38]
Chr4:169842701 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2346G>A (p.Gln782=) single nucleotide variant not specified [RCV004062589] Chr4:168898588 [GRCh38]
Chr4:169819739 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.3003T>C (p.Cys1001=) single nucleotide variant Pancreatic adenocarcinoma [RCV003585277]|not specified [RCV004065334] Chr4:168921686 [GRCh38]
Chr4:169842837 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.2311A>C (p.Arg771=) single nucleotide variant not specified [RCV004061950] Chr4:168898553 [GRCh38]
Chr4:169819704 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.3310A>G (p.Lys1104Glu) single nucleotide variant not specified [RCV004049374] Chr4:168925030 [GRCh38]
Chr4:169846181 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.3203C>A (p.Thr1068Asn) single nucleotide variant not specified [RCV004048478] Chr4:168924399 [GRCh38]
Chr4:169845550 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.3239A>G (p.Asn1080Ser) single nucleotide variant not specified [RCV004048874] Chr4:168924959 [GRCh38]
Chr4:169846110 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.3267G>C (p.Gln1089His) single nucleotide variant not specified [RCV004048986] Chr4:168924987 [GRCh38]
Chr4:169846138 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.3163C>T (p.Pro1055Ser) single nucleotide variant not specified [RCV004048370] Chr4:168924359 [GRCh38]
Chr4:169845510 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2404C>T (p.His802Tyr) single nucleotide variant not specified [RCV004063257] Chr4:168898646 [GRCh38]
Chr4:169819797 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.3015C>T (p.Asn1005=) single nucleotide variant not specified [RCV004065372] Chr4:168921698 [GRCh38]
Chr4:169842849 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.3314A>G (p.Asn1105Ser) single nucleotide variant not specified [RCV004049391] Chr4:168925034 [GRCh38]
Chr4:169846185 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2151T>G (p.Ser717Arg) single nucleotide variant not specified [RCV004061036] Chr4:168894629 [GRCh38]
Chr4:169815780 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2451G>C (p.Val817=) single nucleotide variant not specified [RCV004063414] Chr4:168898693 [GRCh38]
Chr4:169819844 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.2612C>A (p.Ala871Glu) single nucleotide variant not specified [RCV004062228] Chr4:168903896 [GRCh38]
Chr4:169825047 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2424A>G (p.Gly808=) single nucleotide variant not specified [RCV004063326] Chr4:168898666 [GRCh38]
Chr4:169819817 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.2696C>T (p.Ser899Leu) single nucleotide variant Pancreatic adenocarcinoma [RCV003102062]|not specified [RCV004063518] Chr4:168914000 [GRCh38]
Chr4:169835151 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.3248A>G (p.Tyr1083Cys) single nucleotide variant not specified [RCV004048908] Chr4:168924968 [GRCh38]
Chr4:169846119 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.3367C>T (p.His1123Tyr) single nucleotide variant not specified [RCV004049537] Chr4:168925241 [GRCh38]
Chr4:169846392 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2412G>C (p.Lys804Asn) single nucleotide variant not specified [RCV004063297] Chr4:168898654 [GRCh38]
Chr4:169819805 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2591G>A (p.Gly864Glu) single nucleotide variant not specified [RCV004062154] Chr4:168903875 [GRCh38]
Chr4:169825026 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2792T>C (p.Leu931Ser) single nucleotide variant not specified [RCV004064083] Chr4:168915969 [GRCh38]
Chr4:169837120 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.3333C>T (p.Ser1111=) single nucleotide variant Pancreatic adenocarcinoma [RCV003585249]|not specified [RCV004049448] Chr4:168925053 [GRCh38]
Chr4:169846204 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.2446A>G (p.Arg816Gly) single nucleotide variant not specified [RCV004063388] Chr4:168898688 [GRCh38]
Chr4:169819839 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2814T>A (p.Thr938=) single nucleotide variant Pancreatic adenocarcinoma [RCV003102192]|not specified [RCV004064155] Chr4:168915991 [GRCh38]
Chr4:169837142 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.2829A>G (p.Lys943=) single nucleotide variant not specified [RCV004064192] Chr4:168916006 [GRCh38]
Chr4:169837157 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.3104A>C (p.Asn1035Thr) single nucleotide variant not specified [RCV004066394] Chr4:168924300 [GRCh38]
Chr4:169845451 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2807A>C (p.Asp936Ala) single nucleotide variant not specified [RCV004064123] Chr4:168915984 [GRCh38]
Chr4:169837135 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2453C>T (p.Ala818Val) single nucleotide variant Pancreatic adenocarcinoma [RCV003775229]|not specified [RCV004063418] Chr4:168898695 [GRCh38]
Chr4:169819846 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2454T>C (p.Ala818=) single nucleotide variant not specified [RCV004063424] Chr4:168898696 [GRCh38]
Chr4:169819847 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.2960T>A (p.Ile987Asn) single nucleotide variant not specified [RCV004063129] Chr4:168921643 [GRCh38]
Chr4:169842794 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2574C>T (p.Ser858=) single nucleotide variant not specified [RCV004062091] Chr4:168903858 [GRCh38]
Chr4:169825009 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.2535A>G (p.Arg845=) single nucleotide variant not specified [RCV004063974] Chr4:168903819 [GRCh38]
Chr4:169824970 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.2539C>G (p.Leu847Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002430880]|Inborn genetic diseases [RCV003101876]|Pancreatic adenocarcinoma [RCV003775268] Chr4:168903823 [GRCh38]
Chr4:169824974 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2992A>G (p.Ile998Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002440170]|Inborn genetic diseases [RCV003289511] Chr4:168921675 [GRCh38]
Chr4:169842826 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2999C>G (p.Thr1000Arg) single nucleotide variant not specified [RCV004065311] Chr4:168921682 [GRCh38]
Chr4:169842833 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2989G>A (p.Gly997Ser) single nucleotide variant not specified [RCV004599404] Chr4:168921672 [GRCh38]
Chr4:169842823 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2771G>C (p.Arg924Pro) single nucleotide variant not specified [RCV004064010] Chr4:168915948 [GRCh38]
Chr4:169837099 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2283C>T (p.Leu761=) single nucleotide variant not specified [RCV004061839] Chr4:168898525 [GRCh38]
Chr4:169819676 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.3135G>A (p.Arg1045=) single nucleotide variant not specified [RCV004048273] Chr4:168924331 [GRCh38]
Chr4:169845482 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.3114T>C (p.Val1038=) single nucleotide variant not specified [RCV004066419] Chr4:168924310 [GRCh38]
Chr4:169845461 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.2436T>C (p.Thr812=) single nucleotide variant not specified [RCV004063368] Chr4:168898678 [GRCh38]
Chr4:169819829 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.2354A>T (p.Asp785Val) single nucleotide variant not specified [RCV004062626] Chr4:168898596 [GRCh38]
Chr4:169819747 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.3216C>T (p.Asp1072=) single nucleotide variant not specified [RCV004048809] Chr4:168924412 [GRCh38]
Chr4:169845563 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.3217C>A (p.Arg1073=) single nucleotide variant not specified [RCV004048814] Chr4:168924413 [GRCh38]
Chr4:169845564 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.2366A>G (p.Glu789Gly) single nucleotide variant not specified [RCV004062664] Chr4:168898608 [GRCh38]
Chr4:169819759 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2418T>G (p.Phe806Leu) single nucleotide variant not specified [RCV004063308] Chr4:168898660 [GRCh38]
Chr4:169819811 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.3273C>T (p.Ala1091=) single nucleotide variant not specified [RCV004049018] Chr4:168924993 [GRCh38]
Chr4:169846144 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.2409C>T (p.Tyr803=) single nucleotide variant not specified [RCV004063277] Chr4:168898651 [GRCh38]
Chr4:169819802 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.3241C>T (p.His1081Tyr) single nucleotide variant not specified [RCV004048889] Chr4:168924961 [GRCh38]
Chr4:169846112 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2778C>T (p.Phe926=) single nucleotide variant not specified [RCV004064024] Chr4:168915955 [GRCh38]
Chr4:169837106 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.3286G>T (p.Ala1096Ser) single nucleotide variant not specified [RCV004049048] Chr4:168925006 [GRCh38]
Chr4:169846157 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.3361T>C (p.Ser1121Pro) single nucleotide variant not specified [RCV004049523] Chr4:168925235 [GRCh38]
Chr4:169846386 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.3283G>C (p.Asp1095His) single nucleotide variant Pancreatic adenocarcinoma [RCV003099319]|not specified [RCV004049043] Chr4:168925003 [GRCh38]
Chr4:169846154 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.3237C>T (p.Asp1079=) single nucleotide variant not specified [RCV004048867] Chr4:168924957 [GRCh38]
Chr4:169846108 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.2457A>G (p.Gly819=) single nucleotide variant not specified [RCV004063428] Chr4:168898699 [GRCh38]
Chr4:169819850 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.2728A>G (p.Arg910Gly) single nucleotide variant not specified [RCV004063609] Chr4:168915905 [GRCh38]
Chr4:169837056 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.3307G>T (p.Ala1103Ser) single nucleotide variant not specified [RCV004049368] Chr4:168925027 [GRCh38]
Chr4:169846178 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.3315T>C (p.Asn1105=) single nucleotide variant not specified [RCV004049397] Chr4:168925035 [GRCh38]
Chr4:169846186 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.2184G>C (p.Glu728Asp) single nucleotide variant not specified [RCV004061155] Chr4:168894662 [GRCh38]
Chr4:169815813 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.3018A>G (p.Arg1006=) single nucleotide variant not specified [RCV004065384] Chr4:168921701 [GRCh38]
Chr4:169842852 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.3303G>A (p.Val1101=) single nucleotide variant Pancreatic adenocarcinoma [RCV003099333]|not specified [RCV004049356] Chr4:168925023 [GRCh38]
Chr4:169846174 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.3009T>G (p.Ala1003=) single nucleotide variant not specified [RCV004065352] Chr4:168921692 [GRCh38]
Chr4:169842843 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.2477A>G (p.Tyr826Cys) single nucleotide variant not specified [RCV004063757] Chr4:168903761 [GRCh38]
Chr4:169824912 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.3132G>A (p.Val1044=) single nucleotide variant not specified [RCV004048269] Chr4:168924328 [GRCh38]
Chr4:169845479 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.2324A>C (p.Asp775Ala) single nucleotide variant Pancreatic adenocarcinoma [RCV003585271]|not specified [RCV004062513] Chr4:168898566 [GRCh38]
Chr4:169819717 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.3030C>T (p.Asn1010=) single nucleotide variant not specified [RCV004065412] Chr4:168921713 [GRCh38]
Chr4:169842864 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.3332C>A (p.Ser1111Tyr) single nucleotide variant not specified [RCV004049443] Chr4:168925052 [GRCh38]
Chr4:169846203 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2510A>G (p.Lys837Arg) single nucleotide variant not specified [RCV004063889] Chr4:168903794 [GRCh38]
Chr4:169824945 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2511G>A (p.Lys837=) single nucleotide variant not specified [RCV004063897] Chr4:168903795 [GRCh38]
Chr4:169824946 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.3033A>G (p.Ser1011=) single nucleotide variant not specified [RCV004065427] Chr4:168921716 [GRCh38]
Chr4:169842867 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.2255A>T (p.Tyr752Phe) single nucleotide variant Pancreatic adenocarcinoma [RCV003101126]|not specified [RCV004061744] Chr4:168898497 [GRCh38]
Chr4:169819648 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2152G>A (p.Ala718Thr) single nucleotide variant not specified [RCV004061040] Chr4:168894630 [GRCh38]
Chr4:169815781 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2334T>C (p.Gly778=) single nucleotide variant not specified [RCV004062545] Chr4:168898576 [GRCh38]
Chr4:169819727 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.3266A>C (p.Gln1089Pro) single nucleotide variant not specified [RCV004048983] Chr4:168924986 [GRCh38]
Chr4:169846137 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2569G>A (p.Ala857Thr) single nucleotide variant not specified [RCV004062075] Chr4:168903853 [GRCh38]
Chr4:169825004 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2523C>T (p.Tyr841=) single nucleotide variant not specified [RCV004063933] Chr4:168903807 [GRCh38]
Chr4:169824958 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.3186A>G (p.Lys1062=) single nucleotide variant Pancreatic adenocarcinoma [RCV003099225]|not specified [RCV004048424] Chr4:168924382 [GRCh38]
Chr4:169845533 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.3190A>G (p.Asn1064Asp) single nucleotide variant not specified [RCV004048444] Chr4:168924386 [GRCh38]
Chr4:169845537 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2355T>C (p.Asp785=) single nucleotide variant not specified [RCV004062629] Chr4:168898597 [GRCh38]
Chr4:169819748 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.2802T>C (p.Pro934=) single nucleotide variant not specified [RCV004064110] Chr4:168915979 [GRCh38]
Chr4:169837130 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.2798C>A (p.Ala933Asp) single nucleotide variant not specified [RCV004064093] Chr4:168915975 [GRCh38]
Chr4:169837126 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2480G>C (p.Trp827Ser) single nucleotide variant not specified [RCV004063768] Chr4:168903764 [GRCh38]
Chr4:169824915 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2488G>T (p.Asp830Tyr) single nucleotide variant not specified [RCV004063800] Chr4:168903772 [GRCh38]
Chr4:169824923 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2793G>A (p.Leu931=) single nucleotide variant not specified [RCV004064085] Chr4:168915970 [GRCh38]
Chr4:169837121 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.2657A>G (p.Gln886Arg) single nucleotide variant not specified [RCV004062908] Chr4:168913961 [GRCh38]
Chr4:169835112 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2808T>C (p.Asp936=) single nucleotide variant not specified [RCV004064130] Chr4:168915985 [GRCh38]
Chr4:169837136 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.2671A>C (p.Arg891=) single nucleotide variant not specified [RCV004062967] Chr4:168913975 [GRCh38]
Chr4:169835126 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.3209G>C (p.Ser1070Thr) single nucleotide variant not specified [RCV004048495] Chr4:168924405 [GRCh38]
Chr4:169845556 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2957T>C (p.Leu986Pro) single nucleotide variant not specified [RCV004063121] Chr4:168921640 [GRCh38]
Chr4:169842791 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2320G>A (p.Val774Met) single nucleotide variant not specified [RCV004062497] Chr4:168898562 [GRCh38]
Chr4:169819713 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2500A>C (p.Ile834Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002430683]|Inborn genetic diseases [RCV003101831] Chr4:168903784 [GRCh38]
Chr4:169824935 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2502C>A (p.Ile834=) single nucleotide variant not specified [RCV004063866] Chr4:168903786 [GRCh38]
Chr4:169824937 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.2718-3A>C single nucleotide variant Pancreatic adenocarcinoma [RCV002968109] Chr4:168915892 [GRCh38]
Chr4:169837043 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2199+16G>A single nucleotide variant Pancreatic adenocarcinoma [RCV002681664] Chr4:168894693 [GRCh38]
Chr4:169815844 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.2101-20T>G single nucleotide variant Pancreatic adenocarcinoma [RCV003014084] Chr4:168894559 [GRCh38]
Chr4:169815710 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.2225T>C (p.Val742Ala) single nucleotide variant PALLD-related disorder [RCV003963775]|not specified [RCV004214404] Chr4:168896574 [GRCh38]
Chr4:169817725 [GRCh37]
Chr4:4q32.3
likely benign|uncertain significance
NM_032783.5(CBR4):c.385T>A (p.Ser129Thr) single nucleotide variant not specified [RCV004101141] Chr4:169006770 [GRCh38]
Chr4:169927921 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.3059-20T>C single nucleotide variant Pancreatic adenocarcinoma [RCV002881668] Chr4:168924235 [GRCh38]
Chr4:169845386 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.2808T>A (p.Asp936Glu) single nucleotide variant Pancreatic adenocarcinoma [RCV002903756] Chr4:168915985 [GRCh38]
Chr4:169837136 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2785C>A (p.His929Asn) single nucleotide variant Pancreatic adenocarcinoma [RCV002592070] Chr4:168915962 [GRCh38]
Chr4:169837113 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.*96A>T single nucleotide variant Pancreatic adenocarcinoma [RCV002886690]|not specified [RCV004066190] Chr4:168926276 [GRCh38]
Chr4:169847427 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2274A>G (p.Glu758=) single nucleotide variant Pancreatic adenocarcinoma [RCV003036168]|not specified [RCV004070086] Chr4:168898516 [GRCh38]
Chr4:169819667 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.*33-8C>T single nucleotide variant Pancreatic adenocarcinoma [RCV002636635] Chr4:168926205 [GRCh38]
Chr4:169847356 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.*71_*73dup duplication Pancreatic adenocarcinoma [RCV002691029] Chr4:168926246..168926247 [GRCh38]
Chr4:169847397..169847398 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2199+18A>G single nucleotide variant Pancreatic adenocarcinoma [RCV003037165] Chr4:168894695 [GRCh38]
Chr4:169815846 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.*37G>T single nucleotide variant Pancreatic adenocarcinoma [RCV003079824] Chr4:168926217 [GRCh38]
Chr4:169847368 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2298G>A (p.Glu766=) single nucleotide variant Pancreatic adenocarcinoma [RCV002948417]|not specified [RCV004067321] Chr4:168898540 [GRCh38]
Chr4:169819691 [GRCh37]
Chr4:4q32.3
likely benign
NM_032783.5(CBR4):c.514A>G (p.Arg172Gly) single nucleotide variant not specified [RCV004096489] Chr4:169002092 [GRCh38]
Chr4:169923243 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.3058+15G>A single nucleotide variant Pancreatic adenocarcinoma [RCV003058718] Chr4:168921756 [GRCh38]
Chr4:169842907 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.3006A>G (p.Ile1002Met) single nucleotide variant not specified [RCV004130768] Chr4:168921689 [GRCh38]
Chr4:169842840 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2944G>C (p.Gly982Arg) single nucleotide variant Pancreatic adenocarcinoma [RCV002766686]|not specified [RCV004064645] Chr4:168921627 [GRCh38]
Chr4:169842778 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2392A>G (p.Met798Val) single nucleotide variant Pancreatic adenocarcinoma [RCV002644190] Chr4:168898634 [GRCh38]
Chr4:169819785 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.*63A>G single nucleotide variant Pancreatic adenocarcinoma [RCV002928831] Chr4:168926243 [GRCh38]
Chr4:169847394 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_032783.5(CBR4):c.178G>A (p.Glu60Lys) single nucleotide variant not specified [RCV004176040] Chr4:169007721 [GRCh38]
Chr4:169928872 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2251-12T>C single nucleotide variant Pancreatic adenocarcinoma [RCV002962165] Chr4:168898481 [GRCh38]
Chr4:169819632 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.2516A>G (p.Asp839Gly) single nucleotide variant Pancreatic adenocarcinoma [RCV002629397] Chr4:168903800 [GRCh38]
Chr4:169824951 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.3261C>T (p.Leu1087=) single nucleotide variant Pancreatic adenocarcinoma [RCV003048546] Chr4:168924981 [GRCh38]
Chr4:169846132 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.2670A>C (p.Gln890His) single nucleotide variant Pancreatic adenocarcinoma [RCV002629262] Chr4:168913974 [GRCh38]
Chr4:169835125 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_032783.5(CBR4):c.160A>T (p.Ser54Cys) single nucleotide variant not specified [RCV004089747] Chr4:169007739 [GRCh38]
Chr4:169928890 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2260G>A (p.Val754Ile) single nucleotide variant Pancreatic adenocarcinoma [RCV003852763] Chr4:168898502 [GRCh38]
Chr4:169819653 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.*93G>A single nucleotide variant Pancreatic adenocarcinoma [RCV002611874] Chr4:168926273 [GRCh38]
Chr4:169847424 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.3052G>A (p.Val1018Ile) single nucleotide variant Pancreatic adenocarcinoma [RCV002612246] Chr4:168921735 [GRCh38]
Chr4:169842886 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2531A>G (p.Gln844Arg) single nucleotide variant Pancreatic adenocarcinoma [RCV002603064] Chr4:168903815 [GRCh38]
Chr4:169824966 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.3068C>G (p.Ala1023Gly) single nucleotide variant not specified [RCV004275288] Chr4:168924264 [GRCh38]
Chr4:169845415 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2797G>C (p.Ala933Pro) single nucleotide variant not specified [RCV004281501] Chr4:168915974 [GRCh38]
Chr4:169837125 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2859G>A (p.Gly953=) single nucleotide variant not specified [RCV004243156] Chr4:168921542 [GRCh38]
Chr4:169842693 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.3272C>T (p.Ala1091Val) single nucleotide variant not specified [RCV004243166] Chr4:168924992 [GRCh38]
Chr4:169846143 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2123T>A (p.Met708Lys) single nucleotide variant not specified [RCV004243176] Chr4:168894601 [GRCh38]
Chr4:169815752 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2555C>G (p.Ser852Cys) single nucleotide variant not specified [RCV004243177] Chr4:168903839 [GRCh38]
Chr4:169824990 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2602A>G (p.Ile868Val) single nucleotide variant not specified [RCV004281504] Chr4:168903886 [GRCh38]
Chr4:169825037 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.3077C>T (p.Pro1026Leu) single nucleotide variant not specified [RCV004281506] Chr4:168924273 [GRCh38]
Chr4:169845424 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.3209G>A (p.Ser1070Asn) single nucleotide variant not specified [RCV004281508] Chr4:168924405 [GRCh38]
Chr4:169845556 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.3248A>T (p.Tyr1083Phe) single nucleotide variant not specified [RCV004281511] Chr4:168924968 [GRCh38]
Chr4:169846119 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_032783.5(CBR4):c.335T>C (p.Met112Thr) single nucleotide variant not specified [RCV004274883] Chr4:169006820 [GRCh38]
Chr4:169927971 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2809C>G (p.Leu937Val) single nucleotide variant not specified [RCV004247306] Chr4:168915986 [GRCh38]
Chr4:169837137 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.3078C>T (p.Pro1026=) single nucleotide variant not specified [RCV004331301] Chr4:168924274 [GRCh38]
Chr4:169845425 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.3159G>A (p.Val1053=) single nucleotide variant not specified [RCV004331317] Chr4:168924355 [GRCh38]
Chr4:169845506 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.2762T>C (p.Ile921Thr) single nucleotide variant not specified [RCV004331319] Chr4:168915939 [GRCh38]
Chr4:169837090 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2740A>C (p.Ser914Arg) single nucleotide variant not specified [RCV004243154] Chr4:168915917 [GRCh38]
Chr4:169837068 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_032783.5(CBR4):c.175A>G (p.Lys59Glu) single nucleotide variant not specified [RCV004255068] Chr4:169007724 [GRCh38]
Chr4:169928875 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2478T>C (p.Tyr826=) single nucleotide variant not specified [RCV004243122] Chr4:168903762 [GRCh38]
Chr4:169824913 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.3202A>G (p.Thr1068Ala) single nucleotide variant not specified [RCV004243124] Chr4:168924398 [GRCh38]
Chr4:169845549 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2830C>T (p.Leu944Phe) single nucleotide variant not specified [RCV004243126] Chr4:168916007 [GRCh38]
Chr4:169837158 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2358G>A (p.Val786=) single nucleotide variant not specified [RCV004243127] Chr4:168898600 [GRCh38]
Chr4:169819751 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.3032C>T (p.Ser1011Leu) single nucleotide variant not specified [RCV004243138] Chr4:168921715 [GRCh38]
Chr4:169842866 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2844C>T (p.Asp948=) single nucleotide variant not specified [RCV004243139] Chr4:168916021 [GRCh38]
Chr4:169837172 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.2973C>A (p.Val991=) single nucleotide variant not specified [RCV004243158] Chr4:168921656 [GRCh38]
Chr4:169842807 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.2903T>G (p.Val968Gly) single nucleotide variant not specified [RCV004243162] Chr4:168921586 [GRCh38]
Chr4:169842737 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2328A>G (p.Glu776=) single nucleotide variant not specified [RCV004243174] Chr4:168898570 [GRCh38]
Chr4:169819721 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.2274A>C (p.Glu758Asp) single nucleotide variant not specified [RCV004243178] Chr4:168898516 [GRCh38]
Chr4:169819667 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2718G>A (p.Arg906=) single nucleotide variant not specified [RCV004243189] Chr4:168915895 [GRCh38]
Chr4:169837046 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.3201C>T (p.Leu1067=) single nucleotide variant not specified [RCV004247329] Chr4:168924397 [GRCh38]
Chr4:169845548 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.2547G>T (p.Gly849=) single nucleotide variant not specified [RCV004243143] Chr4:168903831 [GRCh38]
Chr4:169824982 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.3149T>C (p.Val1050Ala) single nucleotide variant not specified [RCV004243150] Chr4:168924345 [GRCh38]
Chr4:169845496 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2183A>T (p.Glu728Val) single nucleotide variant not specified [RCV004243151] Chr4:168894661 [GRCh38]
Chr4:169815812 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.3079C>G (p.Pro1027Ala) single nucleotide variant not specified [RCV004243165] Chr4:168924275 [GRCh38]
Chr4:169845426 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2468C>T (p.Pro823Leu) single nucleotide variant not specified [RCV004243172] Chr4:168898710 [GRCh38]
Chr4:169819861 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2324A>G (p.Asp775Gly) single nucleotide variant not specified [RCV004243184] Chr4:168898566 [GRCh38]
Chr4:169819717 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2442A>C (p.Thr814=) single nucleotide variant Pancreatic adenocarcinoma [RCV003778970]|not specified [RCV004243186] Chr4:168898684 [GRCh38]
Chr4:169819835 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.3214G>A (p.Asp1072Asn) single nucleotide variant PALLD-related disorder [RCV003396952]|not specified [RCV004281485] Chr4:168924410 [GRCh38]
Chr4:169845561 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.3309C>A (p.Ala1103=) single nucleotide variant not specified [RCV004281486] Chr4:168925029 [GRCh38]
Chr4:169846180 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.3059C>G (p.Ala1020Gly) single nucleotide variant not specified [RCV004281493] Chr4:168924255 [GRCh38]
Chr4:169845406 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2495A>G (p.Lys832Arg) single nucleotide variant not specified [RCV004326145] Chr4:168903779 [GRCh38]
Chr4:169824930 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2610T>C (p.Ala870=) single nucleotide variant not specified [RCV004326148] Chr4:168903894 [GRCh38]
Chr4:169825045 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.2623G>A (p.Gly875Ser) single nucleotide variant not specified [RCV004326149] Chr4:168913927 [GRCh38]
Chr4:169835078 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2643A>G (p.Gly881=) single nucleotide variant not specified [RCV004366319] Chr4:168913947 [GRCh38]
Chr4:169835098 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.2823A>C (p.Glu941Asp) single nucleotide variant not specified [RCV004366328] Chr4:168916000 [GRCh38]
Chr4:169837151 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.3188A>G (p.Glu1063Gly) single nucleotide variant not specified [RCV004366292] Chr4:168924384 [GRCh38]
Chr4:169845535 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2405A>G (p.His802Arg) single nucleotide variant not specified [RCV004366304] Chr4:168898647 [GRCh38]
Chr4:169819798 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.3128C>A (p.Pro1043Gln) single nucleotide variant not specified [RCV004366307] Chr4:168924324 [GRCh38]
Chr4:169845475 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2856T>C (p.Ser952=) single nucleotide variant not specified [RCV004366296] Chr4:168921539 [GRCh38]
Chr4:169842690 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.2355T>A (p.Asp785Glu) single nucleotide variant not specified [RCV004366317] Chr4:168898597 [GRCh38]
Chr4:169819748 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.3336T>C (p.Cys1112=) single nucleotide variant not specified [RCV004366299] Chr4:168925056 [GRCh38]
Chr4:169846207 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.2266A>T (p.Ser756Cys) single nucleotide variant not specified [RCV004366300] Chr4:168898508 [GRCh38]
Chr4:169819659 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2133A>C (p.Arg711=) single nucleotide variant not specified [RCV004366301] Chr4:168894611 [GRCh38]
Chr4:169815762 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.2157T>C (p.Thr719=) single nucleotide variant not specified [RCV004366295] Chr4:168894635 [GRCh38]
Chr4:169815786 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.2606T>C (p.Met869Thr) single nucleotide variant not specified [RCV004366323] Chr4:168903890 [GRCh38]
Chr4:169825041 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.3171G>C (p.Gln1057His) single nucleotide variant not specified [RCV004366326] Chr4:168924367 [GRCh38]
Chr4:169845518 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2384T>G (p.Phe795Cys) single nucleotide variant not specified [RCV004337514] Chr4:168898626 [GRCh38]
Chr4:169819777 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2261T>A (p.Val754Asp) single nucleotide variant not specified [RCV004362246] Chr4:168898503 [GRCh38]
Chr4:169819654 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_032783.5(CBR4):c.478C>T (p.Arg160Cys) single nucleotide variant not specified [RCV004336631] Chr4:169002128 [GRCh38]
Chr4:169923279 [GRCh37]
Chr4:4q32.3
uncertain significance
GRCh37/hg19 4q32.3-35.2(chr4:167409608-190957473)x3 copy number gain not provided [RCV003484595] Chr4:167409608..190957473 [GRCh37]
Chr4:4q32.3-35.2
pathogenic
NM_001166108.2(PALLD):c.3221T>G (p.Val1074Gly) single nucleotide variant PALLD-related disorder [RCV003417110] Chr4:168924417 [GRCh38]
Chr4:169845568 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.*57del deletion Pancreatic adenocarcinoma [RCV003584267] Chr4:168926237 [GRCh38]
Chr4:169847388 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2998A>G (p.Thr1000Ala) single nucleotide variant Pancreatic adenocarcinoma [RCV003835012] Chr4:168921681 [GRCh38]
Chr4:169842832 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2800C>T (p.Pro934Ser) single nucleotide variant Pancreatic adenocarcinoma [RCV003585436] Chr4:168915977 [GRCh38]
Chr4:169837128 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2120G>C (p.Arg707Thr) single nucleotide variant Pancreatic adenocarcinoma [RCV003585587] Chr4:168894598 [GRCh38]
Chr4:169815749 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.*112C>T single nucleotide variant Pancreatic adenocarcinoma [RCV003584177] Chr4:168926292 [GRCh38]
Chr4:169847443 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.2473-10C>G single nucleotide variant Pancreatic adenocarcinoma [RCV003584151] Chr4:168903747 [GRCh38]
Chr4:169824898 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.3045G>A (p.Glu1015=) single nucleotide variant Pancreatic adenocarcinoma [RCV003585561] Chr4:168921728 [GRCh38]
Chr4:169842879 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.2254T>C (p.Tyr752His) single nucleotide variant Pancreatic adenocarcinoma [RCV003814827] Chr4:168898496 [GRCh38]
Chr4:169819647 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2747A>G (p.Asp916Gly) single nucleotide variant Pancreatic adenocarcinoma [RCV003837211] Chr4:168915924 [GRCh38]
Chr4:169837075 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.3225-16_3225-15del deletion Pancreatic adenocarcinoma [RCV003854951] Chr4:168924928..168924929 [GRCh38]
Chr4:169846079..169846080 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.2622+3A>G single nucleotide variant Pancreatic adenocarcinoma [RCV003746727] Chr4:168903909 [GRCh38]
Chr4:169825060 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.3224+18G>A single nucleotide variant Pancreatic adenocarcinoma [RCV003746849] Chr4:168924438 [GRCh38]
Chr4:169845589 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.*136G>T single nucleotide variant Pancreatic adenocarcinoma [RCV003746078] Chr4:168926316 [GRCh38]
Chr4:169847467 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.2491G>A (p.Gly831Arg) single nucleotide variant Pancreatic adenocarcinoma [RCV003746081] Chr4:168903775 [GRCh38]
Chr4:169824926 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.*182T>A single nucleotide variant Pancreatic adenocarcinoma [RCV003857009] Chr4:168926362 [GRCh38]
Chr4:169847513 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2472+8G>A single nucleotide variant Pancreatic adenocarcinoma [RCV003746394] Chr4:168898722 [GRCh38]
Chr4:169819873 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.2853C>T (p.Val951=) single nucleotide variant Pancreatic adenocarcinoma [RCV003746404]|not specified [RCV004654309] Chr4:168921536 [GRCh38]
Chr4:169842687 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.2708A>G (p.His903Arg) single nucleotide variant Pancreatic adenocarcinoma [RCV003746926] Chr4:168914012 [GRCh38]
Chr4:169835163 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2428C>T (p.Pro810Ser) single nucleotide variant Pancreatic adenocarcinoma [RCV003746938] Chr4:168898670 [GRCh38]
Chr4:169819821 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2949G>A (p.Val983=) single nucleotide variant Pancreatic adenocarcinoma [RCV003747673] Chr4:168921632 [GRCh38]
Chr4:169842783 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.3059-6T>C single nucleotide variant Pancreatic adenocarcinoma [RCV003746453] Chr4:168924249 [GRCh38]
Chr4:169845400 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.2815G>A (p.Val939Ile) single nucleotide variant Pancreatic adenocarcinoma [RCV003746901] Chr4:168915992 [GRCh38]
Chr4:169837143 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2988C>A (p.Ala996=) single nucleotide variant Pancreatic adenocarcinoma [RCV003746991] Chr4:168921671 [GRCh38]
Chr4:169842822 [GRCh37]
Chr4:4q32.3
likely benign
GRCh37/hg19 4q24-35.2(chr4:101203509-190957473)x3 copy number gain not specified [RCV003986496] Chr4:101203509..190957473 [GRCh37]
Chr4:4q24-35.2
pathogenic
NM_001166108.2(PALLD):c.2147A>T (p.Asp716Val) single nucleotide variant Pancreatic adenocarcinoma [RCV003746735] Chr4:168894625 [GRCh38]
Chr4:169815776 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2850+4A>C single nucleotide variant Pancreatic adenocarcinoma [RCV003746783] Chr4:168916031 [GRCh38]
Chr4:169837182 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.*136G>C single nucleotide variant Pancreatic adenocarcinoma [RCV003863452] Chr4:168926316 [GRCh38]
Chr4:169847467 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.2101-11dup duplication Pancreatic adenocarcinoma [RCV003747578] Chr4:168894567..168894568 [GRCh38]
Chr4:169815718..169815719 [GRCh37]
Chr4:4q32.3
likely benign
GRCh37/hg19 4q32.1-35.2(chr4:161589441-190957473)x1 copy number loss not specified [RCV003986532] Chr4:161589441..190957473 [GRCh37]
Chr4:4q32.1-35.2
pathogenic
GRCh37/hg19 4q27-35.2(chr4:123399154-190957473)x3 copy number gain not specified [RCV003986533] Chr4:123399154..190957473 [GRCh37]
Chr4:4q27-35.2
pathogenic
NM_032783.5(CBR4):c.401-11_401-8del deletion not provided [RCV003552020] Chr4:169002213..169002216 [GRCh38]
Chr4:169923364..169923367 [GRCh37]
Chr4:4q32.3
benign
NM_001166108.2(PALLD):c.2473-18C>T single nucleotide variant Pancreatic adenocarcinoma [RCV003747652] Chr4:168903739 [GRCh38]
Chr4:169824890 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.*73A>T single nucleotide variant Pancreatic adenocarcinoma [RCV003747180] Chr4:168926253 [GRCh38]
Chr4:169847404 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.3225-18C>G single nucleotide variant Pancreatic adenocarcinoma [RCV003747203] Chr4:168924927 [GRCh38]
Chr4:169846078 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.2818C>A (p.Gln940Lys) single nucleotide variant Pancreatic adenocarcinoma [RCV003870403] Chr4:168915995 [GRCh38]
Chr4:169837146 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.3059-13C>T single nucleotide variant Pancreatic adenocarcinoma [RCV003747676] Chr4:168924242 [GRCh38]
Chr4:169845393 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.3017G>A (p.Arg1006Gln) single nucleotide variant Pancreatic adenocarcinoma [RCV003747670] Chr4:168921700 [GRCh38]
Chr4:169842851 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2159T>C (p.Val720Ala) single nucleotide variant not specified [RCV004521943] Chr4:168894637 [GRCh38]
Chr4:169815788 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2261T>C (p.Val754Ala) single nucleotide variant not specified [RCV004521944] Chr4:168898503 [GRCh38]
Chr4:169819654 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2242G>C (p.Gly748Arg) single nucleotide variant PALLD-related disorder [RCV003977159] Chr4:168896591 [GRCh38]
Chr4:169817742 [GRCh37]
Chr4:4q32.3
uncertain significance
GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3 copy number gain not provided [RCV003885507] Chr4:45455621..191003541 [GRCh37]
Chr4:4p12-q35.2
pathogenic
NM_001166108.2(PALLD):c.2315C>G (p.Ser772Cys) single nucleotide variant not specified [RCV004521945] Chr4:168898557 [GRCh38]
Chr4:169819708 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2369A>G (p.Asn790Ser) single nucleotide variant not specified [RCV004521946] Chr4:168898611 [GRCh38]
Chr4:169819762 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2595T>G (p.Asn865Lys) single nucleotide variant not specified [RCV004521950] Chr4:168903879 [GRCh38]
Chr4:169825030 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2621A>C (p.Gln874Pro) single nucleotide variant not specified [RCV004521951] Chr4:168903905 [GRCh38]
Chr4:169825056 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2672G>C (p.Arg891Thr) single nucleotide variant not specified [RCV004521953] Chr4:168913976 [GRCh38]
Chr4:169835127 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.3326T>C (p.Ile1109Thr) single nucleotide variant not specified [RCV004521976] Chr4:168925046 [GRCh38]
Chr4:169846197 [GRCh37]
Chr4:4q32.3
uncertain significance
GRCh37/hg19 4q32.3-35.2(chr4:169060637-191154276)x1 copy number loss not provided [RCV003885510] Chr4:169060637..191154276 [GRCh37]
Chr4:4q32.3-35.2
pathogenic
NM_001166108.2(PALLD):c.2929C>T (p.Leu977=) single nucleotide variant not specified [RCV004521964] Chr4:168921612 [GRCh38]
Chr4:169842763 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.2391G>A (p.Glu797=) single nucleotide variant not specified [RCV004521947] Chr4:168898633 [GRCh38]
Chr4:169819784 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.3020C>G (p.Ala1007Gly) single nucleotide variant not specified [RCV004521967] Chr4:168921703 [GRCh38]
Chr4:169842854 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2508A>G (p.Pro836=) single nucleotide variant not specified [RCV004521948] Chr4:168903792 [GRCh38]
Chr4:169824943 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.3309C>T (p.Ala1103=) single nucleotide variant not specified [RCV004521975] Chr4:168925029 [GRCh38]
Chr4:169846180 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.2526C>T (p.Thr842=) single nucleotide variant not specified [RCV004521949] Chr4:168903810 [GRCh38]
Chr4:169824961 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.3287C>G (p.Ala1096Gly) single nucleotide variant not specified [RCV004521973] Chr4:168925007 [GRCh38]
Chr4:169846158 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.3254G>T (p.Cys1085Phe) single nucleotide variant not specified [RCV004521971] Chr4:168924974 [GRCh38]
Chr4:169846125 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2950C>T (p.His984Tyr) single nucleotide variant not specified [RCV004521966] Chr4:168921633 [GRCh38]
Chr4:169842784 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2902G>T (p.Val968Leu) single nucleotide variant not specified [RCV004521962] Chr4:168921585 [GRCh38]
Chr4:169842736 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.3253T>C (p.Cys1085Arg) single nucleotide variant not specified [RCV004521970] Chr4:168924973 [GRCh38]
Chr4:169846124 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2683C>A (p.Pro895Thr) single nucleotide variant not specified [RCV004521955] Chr4:168913987 [GRCh38]
Chr4:169835138 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2675G>T (p.Gly892Val) single nucleotide variant not specified [RCV004521954] Chr4:168913979 [GRCh38]
Chr4:169835130 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2915G>A (p.Ser972Asn) single nucleotide variant not specified [RCV004521963] Chr4:168921598 [GRCh38]
Chr4:169842749 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.3165A>T (p.Pro1055=) single nucleotide variant not specified [RCV004521968] Chr4:168924361 [GRCh38]
Chr4:169845512 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.2896A>C (p.Lys966Gln) single nucleotide variant not specified [RCV004521961] Chr4:168921579 [GRCh38]
Chr4:169842730 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2888T>C (p.Leu963Pro) single nucleotide variant not specified [RCV004521960] Chr4:168921571 [GRCh38]
Chr4:169842722 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2887C>T (p.Leu963=) single nucleotide variant not specified [RCV004521959] Chr4:168921570 [GRCh38]
Chr4:169842721 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.2813C>T (p.Thr938Ile) single nucleotide variant not specified [RCV004521957] Chr4:168915990 [GRCh38]
Chr4:169837141 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2709T>C (p.His903=) single nucleotide variant not specified [RCV004521956] Chr4:168914013 [GRCh38]
Chr4:169835164 [GRCh37]
Chr4:4q32.3
likely benign
NM_032783.5(CBR4):c.359G>A (p.Arg120Lys) single nucleotide variant not specified [RCV004432418] Chr4:169006796 [GRCh38]
Chr4:169927947 [GRCh37]
Chr4:4q32.3
likely benign
NM_032783.5(CBR4):c.550G>C (p.Asp184His) single nucleotide variant not specified [RCV004432420] Chr4:168990314 [GRCh38]
Chr4:169911465 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2627G>T (p.Arg876Leu) single nucleotide variant not specified [RCV004500031] Chr4:168913931 [GRCh38]
Chr4:169835082 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_032783.5(CBR4):c.136C>G (p.Leu46Val) single nucleotide variant not specified [RCV004432416] Chr4:169009954 [GRCh38]
Chr4:169931105 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_032783.5(CBR4):c.355A>G (p.Met119Val) single nucleotide variant not specified [RCV004432417] Chr4:169006800 [GRCh38]
Chr4:169927951 [GRCh37]
Chr4:4q32.3
likely benign
NM_032783.5(CBR4):c.530C>T (p.Ala177Val) single nucleotide variant not specified [RCV004432419] Chr4:169002076 [GRCh38]
Chr4:169923227 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2548A>G (p.Thr850Ala) single nucleotide variant not specified [RCV004500030] Chr4:168903832 [GRCh38]
Chr4:169824983 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.*93G>C single nucleotide variant not specified [RCV004500037] Chr4:168926273 [GRCh38]
Chr4:169847424 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_032783.5(CBR4):c.360G>T (p.Arg120Ser) single nucleotide variant not specified [RCV004602685] Chr4:169006795 [GRCh38]
Chr4:169927946 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2617C>A (p.Pro873Thr) single nucleotide variant not specified [RCV004664057] Chr4:168903901 [GRCh38]
Chr4:169825052 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2623G>T (p.Gly875Cys) single nucleotide variant not specified [RCV004664069] Chr4:168913927 [GRCh38]
Chr4:169835078 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2497C>A (p.Gln833Lys) single nucleotide variant not specified [RCV004664094] Chr4:168903781 [GRCh38]
Chr4:169824932 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_032783.5(CBR4):c.197C>T (p.Thr66Ile) single nucleotide variant not specified [RCV004602686] Chr4:169007702 [GRCh38]
Chr4:169928853 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2597A>G (p.Tyr866Cys) single nucleotide variant not specified [RCV004664086] Chr4:168903881 [GRCh38]
Chr4:169825032 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2783C>T (p.Pro928Leu) single nucleotide variant not specified [RCV004664062] Chr4:168915960 [GRCh38]
Chr4:169837111 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2191G>A (p.Ala731Thr) single nucleotide variant not specified [RCV004664066] Chr4:168894669 [GRCh38]
Chr4:169815820 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2157T>G (p.Thr719=) single nucleotide variant not specified [RCV004664085] Chr4:168894635 [GRCh38]
Chr4:169815786 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.2117A>G (p.Glu706Gly) single nucleotide variant not specified [RCV004664087] Chr4:168894595 [GRCh38]
Chr4:169815746 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.3105C>T (p.Asn1035=) single nucleotide variant not specified [RCV004664097] Chr4:168924301 [GRCh38]
Chr4:169845452 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.2560C>T (p.His854Tyr) single nucleotide variant not specified [RCV004664101] Chr4:168903844 [GRCh38]
Chr4:169824995 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.3248A>C (p.Tyr1083Ser) single nucleotide variant not specified [RCV004664050] Chr4:168924968 [GRCh38]
Chr4:169846119 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.3175T>C (p.Phe1059Leu) single nucleotide variant not specified [RCV004664070] Chr4:168924371 [GRCh38]
Chr4:169845522 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2335G>A (p.Asp779Asn) single nucleotide variant not specified [RCV004664099] Chr4:168898577 [GRCh38]
Chr4:169819728 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2686C>G (p.Arg896Gly) single nucleotide variant not specified [RCV004650762] Chr4:168913990 [GRCh38]
Chr4:169835141 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2662G>A (p.Val888Ile) single nucleotide variant not specified [RCV004650768] Chr4:168913966 [GRCh38]
Chr4:169835117 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.3229C>G (p.His1077Asp) single nucleotide variant not specified [RCV004650770] Chr4:168924949 [GRCh38]
Chr4:169846100 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2183A>G (p.Glu728Gly) single nucleotide variant not specified [RCV004650773] Chr4:168894661 [GRCh38]
Chr4:169815812 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2557C>T (p.Leu853Phe) single nucleotide variant not specified [RCV004650778] Chr4:168903841 [GRCh38]
Chr4:169824992 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.3219A>T (p.Arg1073=) single nucleotide variant not specified [RCV004650780] Chr4:168924415 [GRCh38]
Chr4:169845566 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.3362C>A (p.Ser1121Tyr) single nucleotide variant not specified [RCV004650794] Chr4:168925236 [GRCh38]
Chr4:169846387 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.3074A>T (p.Lys1025Ile) single nucleotide variant not specified [RCV004650797] Chr4:168924270 [GRCh38]
Chr4:169845421 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2798C>G (p.Ala933Gly) single nucleotide variant not specified [RCV004650800] Chr4:168915975 [GRCh38]
Chr4:169837126 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2572T>A (p.Ser858Thr) single nucleotide variant not specified [RCV004650801] Chr4:168903856 [GRCh38]
Chr4:169825007 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2777T>A (p.Phe926Tyr) single nucleotide variant not specified [RCV004650805] Chr4:168915954 [GRCh38]
Chr4:169837105 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.3300T>G (p.Thr1100=) single nucleotide variant not specified [RCV004664058] Chr4:168925020 [GRCh38]
Chr4:169846171 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.2719C>T (p.Pro907Ser) single nucleotide variant not specified [RCV004664064] Chr4:168915896 [GRCh38]
Chr4:169837047 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.3196T>A (p.Ser1066Thr) single nucleotide variant not specified [RCV004664077] Chr4:168924392 [GRCh38]
Chr4:169845543 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2705C>A (p.Pro902His) single nucleotide variant not specified [RCV004664079] Chr4:168914009 [GRCh38]
Chr4:169835160 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.3285T>C (p.Asp1095=) single nucleotide variant not specified [RCV004664051] Chr4:168925005 [GRCh38]
Chr4:169846156 [GRCh37]
Chr4:4q32.3
likely benign
NM_001166108.2(PALLD):c.2132G>T (p.Arg711Leu) single nucleotide variant not specified [RCV004650771] Chr4:168894610 [GRCh38]
Chr4:169815761 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2345A>G (p.Gln782Arg) single nucleotide variant not specified [RCV004650785] Chr4:168898587 [GRCh38]
Chr4:169819738 [GRCh37]
Chr4:4q32.3
uncertain significance
NM_001166108.2(PALLD):c.2291A>C (p.Glu764Ala) single nucleotide variant not specified [RCV004664091] Chr4:168898533 [GRCh38]
Chr4:169819684 [GRCh37]
Chr4:4q32.3
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1730
Count of miRNA genes:922
Interacting mature miRNAs:1070
Transcripts:ENST00000306193, ENST00000504480, ENST00000504561, ENST00000506808, ENST00000507752, ENST00000509108, ENST00000510042
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407207053GWAS856029_HVertigo QTL GWAS856029 (human)0.000006Vertigo4168966288168966289Human
407266220GWAS915196_Hbody height QTL GWAS915196 (human)1e-34body height (VT:0001253)body height (CMO:0000106)4168908194168908195Human

Markers in Region
RH104278  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374169,910,442 - 169,910,561UniSTSGRCh37
Build 364170,147,017 - 170,147,136RGDNCBI36
Celera4167,241,785 - 167,241,904RGD
Cytogenetic Map4q32.3UniSTS
HuRef4165,663,892 - 165,664,011UniSTS
GeneMap99-GB4 RH Map4668.08UniSTS
RH119778  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374169,916,924 - 169,917,243UniSTSGRCh37
Build 364170,153,499 - 170,153,818RGDNCBI36
Celera4167,248,265 - 167,248,584RGD
Cytogenetic Map4q32.3UniSTS
HuRef4165,670,379 - 165,670,698UniSTS
TNG Radiation Hybrid Map475767.0UniSTS
SHGC4-1617  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374169,914,702 - 169,914,853UniSTSGRCh37
Build 364170,151,277 - 170,151,428RGDNCBI36
Celera4167,246,045 - 167,246,196RGD
Cytogenetic Map4q32.3UniSTS
HuRef4165,668,159 - 165,668,310UniSTS
TNG Radiation Hybrid Map475763.0UniSTS
D4S998  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374169,930,940 - 169,931,109UniSTSGRCh37
Build 364170,167,515 - 170,167,684RGDNCBI36
Celera4167,262,276 - 167,262,445RGD
Cytogenetic Map4q32.3UniSTS
HuRef4165,684,390 - 165,684,559UniSTS
TNG Radiation Hybrid Map475771.0UniSTS
Stanford-G3 RH Map49086.0UniSTS
NCBI RH Map41688.6UniSTS
CBR4  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374169,931,153 - 169,931,270UniSTSGRCh37
Celera4167,262,489 - 167,262,606UniSTS
HuRef4165,684,603 - 165,684,720UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4974 1726 2351 6 624 1951 465 2270 7306 6472 53 3734 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_032783 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005263315 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005263316 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006714391 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006714392 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011532385 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011532386 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017008782 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017008783 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047416331 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054351121 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054351122 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054351123 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054351124 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054351125 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054351126 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054351127 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001741341 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007057980 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008487052 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008487053 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC021151 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC080188 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC115538 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK027337 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK291756 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL049442 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL833393 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AV704400 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC021973 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC033650 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG119539 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ230058 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471056 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068274 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA217727 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HB874579 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HC931988 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  W70279 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000306193   ⟹   ENSP00000303525
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4168,987,590 - 169,010,255 (-)Ensembl
Ensembl Acc Id: ENST00000504480   ⟹   ENSP00000427615
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4169,001,169 - 169,010,254 (-)Ensembl
Ensembl Acc Id: ENST00000504561   ⟹   ENSP00000423128
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4169,001,575 - 169,010,080 (-)Ensembl
Ensembl Acc Id: ENST00000506808   ⟹   ENSP00000421254
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4169,006,802 - 169,010,250 (-)Ensembl
Ensembl Acc Id: ENST00000507752   ⟹   ENSP00000425671
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4169,007,641 - 169,010,275 (-)Ensembl
Ensembl Acc Id: ENST00000509108
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4168,863,793 - 169,006,788 (-)Ensembl
Ensembl Acc Id: ENST00000510042   ⟹   ENSP00000424717
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4168,863,770 - 169,010,258 (-)Ensembl
RefSeq Acc Id: NM_032783   ⟹   NP_116172
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384168,987,590 - 169,010,255 (-)NCBI
GRCh374169,815,774 - 169,931,468 (-)NCBI
Build 364170,145,316 - 170,167,997 (-)NCBI Archive
Celera4167,240,084 - 167,262,804 (-)RGD
HuRef4165,662,191 - 165,684,917 (-)RGD
CHM1_14169,885,180 - 169,907,907 (-)NCBI
T2T-CHM13v2.04172,347,016 - 172,369,681 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005263315   ⟹   XP_005263372
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384168,894,620 - 169,010,255 (-)NCBI
GRCh374169,815,774 - 169,931,468 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006714391   ⟹   XP_006714454
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384168,987,590 - 169,010,255 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011532385   ⟹   XP_011530687
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384168,987,590 - 169,010,255 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011532386   ⟹   XP_011530688
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384168,987,590 - 169,010,255 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017008782   ⟹   XP_016864271
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384168,894,486 - 169,010,255 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017008783   ⟹   XP_016864272
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384168,928,388 - 169,010,255 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047416331   ⟹   XP_047272287
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384168,928,388 - 169,010,255 (-)NCBI
RefSeq Acc Id: XM_054351121   ⟹   XP_054207096
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.04172,347,016 - 172,369,681 (-)NCBI
RefSeq Acc Id: XM_054351122   ⟹   XP_054207097
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.04172,254,054 - 172,369,681 (-)NCBI
RefSeq Acc Id: XM_054351123   ⟹   XP_054207098
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.04172,254,054 - 172,369,681 (-)NCBI
RefSeq Acc Id: XM_054351124   ⟹   XP_054207099
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.04172,287,238 - 172,369,681 (-)NCBI
RefSeq Acc Id: XM_054351125   ⟹   XP_054207100
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.04172,347,016 - 172,369,681 (-)NCBI
RefSeq Acc Id: XM_054351126   ⟹   XP_054207101
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.04172,287,238 - 172,369,681 (-)NCBI
RefSeq Acc Id: XM_054351127   ⟹   XP_054207102
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.04172,347,016 - 172,369,681 (-)NCBI
RefSeq Acc Id: XR_001741341
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384168,894,620 - 169,010,255 (-)NCBI
Sequence:
RefSeq Acc Id: XR_007057980
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384168,894,620 - 169,010,255 (-)NCBI
RefSeq Acc Id: XR_008487052
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.04172,254,054 - 172,369,681 (-)NCBI
RefSeq Acc Id: XR_008487053
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.04172,254,054 - 172,369,681 (-)NCBI
Protein Sequences
Protein RefSeqs NP_116172 (Get FASTA)   NCBI Sequence Viewer  
  XP_005263372 (Get FASTA)   NCBI Sequence Viewer  
  XP_006714454 (Get FASTA)   NCBI Sequence Viewer  
  XP_011530687 (Get FASTA)   NCBI Sequence Viewer  
  XP_011530688 (Get FASTA)   NCBI Sequence Viewer  
  XP_016864271 (Get FASTA)   NCBI Sequence Viewer  
  XP_016864272 (Get FASTA)   NCBI Sequence Viewer  
  XP_047272287 (Get FASTA)   NCBI Sequence Viewer  
  XP_054207096 (Get FASTA)   NCBI Sequence Viewer  
  XP_054207097 (Get FASTA)   NCBI Sequence Viewer  
  XP_054207098 (Get FASTA)   NCBI Sequence Viewer  
  XP_054207099 (Get FASTA)   NCBI Sequence Viewer  
  XP_054207100 (Get FASTA)   NCBI Sequence Viewer  
  XP_054207101 (Get FASTA)   NCBI Sequence Viewer  
  XP_054207102 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH21973 (Get FASTA)   NCBI Sequence Viewer  
  AAH33650 (Get FASTA)   NCBI Sequence Viewer  
  BAB55045 (Get FASTA)   NCBI Sequence Viewer  
  BAF84445 (Get FASTA)   NCBI Sequence Viewer  
  CAH10582 (Get FASTA)   NCBI Sequence Viewer  
  CBF61666 (Get FASTA)   NCBI Sequence Viewer  
  CBU86558 (Get FASTA)   NCBI Sequence Viewer  
  EAX04797 (Get FASTA)   NCBI Sequence Viewer  
  EAX04798 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000303525
  ENSP00000303525.3
  ENSP00000421254.1
  ENSP00000423128
  ENSP00000423128.1
  ENSP00000424717.1
  ENSP00000425671.1
  ENSP00000427615
  ENSP00000427615.1
GenBank Protein Q8N4T8 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_116172   ⟸   NM_032783
- UniProtKB: Q8WTW8 (UniProtKB/Swiss-Prot),   Q96K93 (UniProtKB/Swiss-Prot),   Q8N4T8 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005263372   ⟸   XM_005263315
- Peptide Label: isoform X3
- UniProtKB: H0Y962 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006714454   ⟸   XM_006714391
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011530687   ⟸   XM_011532385
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_011530688   ⟸   XM_011532386
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: XP_016864271   ⟸   XM_017008782
- Peptide Label: isoform X2
- UniProtKB: H0Y962 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016864272   ⟸   XM_017008783
- Peptide Label: isoform X4
- UniProtKB: H0Y962 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000303525   ⟸   ENST00000306193
Ensembl Acc Id: ENSP00000427615   ⟸   ENST00000504480
Ensembl Acc Id: ENSP00000423128   ⟸   ENST00000504561
Ensembl Acc Id: ENSP00000421254   ⟸   ENST00000506808
Ensembl Acc Id: ENSP00000425671   ⟸   ENST00000507752
Ensembl Acc Id: ENSP00000424717   ⟸   ENST00000510042
RefSeq Acc Id: XP_047272287   ⟸   XM_047416331
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054207098   ⟸   XM_054351123
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054207097   ⟸   XM_054351122
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054207101   ⟸   XM_054351126
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054207099   ⟸   XM_054351124
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054207102   ⟸   XM_054351127
- Peptide Label: isoform X7
RefSeq Acc Id: XP_054207100   ⟸   XM_054351125
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054207096   ⟸   XM_054351121
- Peptide Label: isoform X1

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8N4T8-F1-model_v2 AlphaFold Q8N4T8 1-237 view protein structure

Promoters
RGD ID:6868862
Promoter ID:EPDNEW_H7596
Type:initiation region
Name:CBR4_1
Description:carbonyl reductase 4
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh384169,010,174 - 169,010,234EPDNEW
RGD ID:6814720
Promoter ID:HG_XEF:6184
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:NM_205656
Position:
Human AssemblyChrPosition (strand)Source
Build 364170,166,191 - 170,166,691 (-)MPROMDB
RGD ID:6802100
Promoter ID:HG_KWN:49450
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_032783,   UC003IRZ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 364170,167,566 - 170,168,217 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:25891 AgrOrtholog
COSMIC CBR4 COSMIC
Ensembl Genes ENSG00000145439 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000306193 ENTREZGENE
  ENST00000306193.8 UniProtKB/Swiss-Prot
  ENST00000504480 ENTREZGENE
  ENST00000504480.5 UniProtKB/Swiss-Prot
  ENST00000504561 ENTREZGENE
  ENST00000504561.1 UniProtKB/TrEMBL
  ENST00000506808.1 UniProtKB/TrEMBL
  ENST00000507752.1 UniProtKB/TrEMBL
  ENST00000510042.5 UniProtKB/TrEMBL
Gene3D-CATH NAD(P)-binding Rossmann-like Domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000145439 GTEx
HGNC ID HGNC:25891 ENTREZGENE
Human Proteome Map CBR4 Human Proteome Map
InterPro NAD(P)-bd_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Sc_DH/Rdtase_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SDR_fam UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:84869 UniProtKB/Swiss-Prot
NCBI Gene 84869 ENTREZGENE
OMIM 619394 OMIM
PANTHER 3-OXOACYL-[ACYL-CARRIER-PROTEIN] REDUCTASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SHORT-CHAIN DEHYDROGENASES/REDUCTASES FAMILY MEMBER UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam adh_short UniProtKB/TrEMBL
  adh_short_C2 UniProtKB/Swiss-Prot
PharmGKB PA144596471 PharmGKB
PRINTS GDHRDH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SDRFAMILY UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE ADH_SHORT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART PKS_KR UniProtKB/Swiss-Prot
Superfamily-SCOP SSF51735 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt CBR4_HUMAN UniProtKB/Swiss-Prot
  D6RAV8_HUMAN UniProtKB/TrEMBL
  D6RGF2_HUMAN UniProtKB/TrEMBL
  D6RJF4_HUMAN UniProtKB/TrEMBL
  H0Y962 ENTREZGENE, UniProtKB/TrEMBL
  Q8N4T8 ENTREZGENE
  Q8WTW8 ENTREZGENE
  Q96K93 ENTREZGENE
UniProt Secondary Q8WTW8 UniProtKB/Swiss-Prot
  Q96K93 UniProtKB/Swiss-Prot