PALB2 (partner and localizer of BRCA2) - Rat Genome Database

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Advanced Search (OLGA)
Gene: PALB2 (partner and localizer of BRCA2) Homo sapiens
Analyze
Symbol: PALB2
Name: partner and localizer of BRCA2
RGD ID: 1605949
HGNC Page HGNC:26144
Description: Enables DNA binding activity. Involved in double-strand break repair via homologous recombination. Located in nuclear speck. Part of DNA repair complex. Implicated in Fanconi anemia complementation group N; female breast cancer; hereditary breast ovarian cancer syndrome; and pancreatic cancer.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: BROVCA5; DKFZp667I166; DKFZp686E1054; FANCN; FLJ21816; mutant partner and localizer of BRCA2; PNCA3; truncated partner and localizer of BRCA2
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
GRCh381623,603,165 - 23,641,310 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1623,603,160 - 23,641,321 (-)Ensemblhg38GRCh38
GRCh371623,614,486 - 23,652,631 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361623,521,984 - 23,560,179 (-)NCBIBuild 36Build 36hg18NCBI36
Celera1622,392,663 - 22,430,856 (-)NCBICelera
Cytogenetic Map16p12.2NCBI
HuRef1621,704,596 - 21,742,312 (-)NCBIHuRef
CHM1_11624,626,195 - 24,664,406 (-)NCBICHM1_1
T2T-CHM13v2.01623,878,974 - 23,917,118 (-)NCBIT2T-CHM13v2.0
JBrowse:




Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function
DNA binding  (IBA,IDA,IEA)
protein binding  (IPI)

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abdominal pain  (IAGP)
Abnormal aortic morphology  (IAGP)
Abnormal aortic valve morphology  (IAGP)
Abnormal cardiac septum morphology  (IAGP)
Abnormal carotid artery morphology  (IAGP)
Abnormal eyelid morphology  (IAGP)
Abnormal fallopian tube morphology  (IAGP)
Abnormal femur morphology  (IAGP)
Abnormal foot morphology  (IAGP)
Abnormal localization of kidney  (IAGP)
Abnormal morphology of ulna  (IAGP)
Abnormal nervous system morphology  (IAGP)
Abnormal pinna morphology  (IAGP)
Abnormal preputium morphology  (IAGP)
Abnormal renal morphology  (IAGP)
Abnormal testis morphology  (IAGP)
Abnormal thumb morphology  (IAGP)
Abnormality of blood and blood-forming tissues  (IAGP)
Abnormality of chromosome stability  (IAGP)
Abnormality of skin pigmentation  (IAGP)
Abnormality of the eye  (IAGP)
Abnormality of the hypothalamus-pituitary axis  (IAGP)
Abnormality of the liver  (IAGP)
Abnormality of the upper limb  (IAGP)
Abnormality of the urinary system  (IAGP)
Abnormality of the uterus  (IAGP)
Abnormality of vision  (IAGP)
Absent testis  (IAGP)
Absent thumb  (IAGP)
Acute myeloid leukemia  (IAGP)
Adult onset  (IAGP)
Aganglionic megacolon  (IAGP)
Almond-shaped palpebral fissure  (IAGP)
Anal atresia  (IAGP)
Anemia  (IAGP)
Anorexia  (IAGP)
Aplasia/Hypoplasia of fingers  (IAGP)
Aplasia/Hypoplasia of the iris  (IAGP)
Aplasia/Hypoplasia of the radius  (IAGP)
Aplasia/Hypoplasia of the uvula  (IAGP)
Aplastic anemia  (IAGP)
Arteriovenous malformation  (IAGP)
Astigmatism  (IAGP)
Atrial septal defect  (IAGP)
Autosomal dominant inheritance  (IAGP)
Autosomal recessive inheritance  (IAGP)
Azoospermia  (IAGP)
Back pain  (IAGP)
Basal cell carcinoma  (IAGP)
Bicornuate uterus  (IAGP)
Breast carcinoma  (IAGP)
Cafe-au-lait spot  (IAGP)
Cataract  (IAGP)
Choanal atresia  (IAGP)
Cholangiocarcinoma  (IAGP)
Chordoma  (IAGP)
Chromosomal breakage induced by crosslinking agents  (IAGP)
Chronic fatigue  (IAGP)
Cleft palate  (IAGP)
Clinodactyly of the 5th finger  (IAGP)
Clubbing of toes  (IAGP)
Colon cancer  (IAGP)
Congenital onset  (IAGP)
Cranial nerve paralysis  (IAGP)
Cryptorchidism  (IAGP)
Decreased fertility in males  (IAGP)
Decreased total leukocyte count  (IAGP)
Diabetes mellitus  (IAGP)
Dolichocephaly  (IAGP)
Duodenal stenosis  (IAGP)
Ectopic kidney  (IAGP)
Elevated circulating hepatic transaminase concentration  (IAGP)
Endometrial carcinoma  (IAGP)
Epicanthus  (IAGP)
Exocrine pancreatic insufficiency  (IAGP)
Extrahepatic cholestasis  (IAGP)
Facial asymmetry  (IAGP)
Family history of cancer  (IAGP)
Finger syndactyly  (IAGP)
Frontal bossing  (IAGP)
Functional intestinal obstruction  (IAGP)
Generalized hypopigmentation  (IAGP)
Global developmental delay  (IAGP)
Growth delay  (IAGP)
Hearing abnormality  (IAGP)
Hearing impairment  (IAGP)
Hepatosplenomegaly  (IAGP)
High palate  (IAGP)
Hip dislocation  (IAGP)
Horseshoe kidney  (IAGP)
Hydrocephalus  (IAGP)
Hydroureter  (IAGP)
Hyperpigmentation of the skin  (IAGP)
Hyperreflexia  (IAGP)
Hypertelorism  (IAGP)
Hypertrophic cardiomyopathy  (IAGP)
Hypogonadism  (IAGP)
Hypopigmented skin patches  (IAGP)
Hypoplasia of the radius  (IAGP)
Hypoplasia of the ulna  (IAGP)
Hypospadias  (IAGP)
Intellectual disability  (IAGP)
Intermittent diarrhea  (IAGP)
Intestinal pseudo-obstruction  (IAGP)
Intrauterine growth retardation  (IAGP)
Irregular hyperpigmentation  (IAGP)
Jaundice  (IAGP)
Lymphadenopathy  (IAGP)
Meckel diverticulum  (IAGP)
Medulloblastoma  (IAGP)
Melanoma  (IAGP)
Microcephaly  (IAGP)
Micrognathia  (IAGP)
Microphthalmia  (IAGP)
Multiple cafe-au-lait spots  (IAGP)
Myelodysplasia  (IAGP)
Nausea and vomiting  (IAGP)
Neoplasm  (IAGP)
Neoplasm of the breast  (IAGP)
Neoplasm of the liver  (IAGP)
Neoplasm of the lung  (IAGP)
Neoplasm of the pancreas  (IAGP)
Nephroblastoma  (IAGP)
Neuroblastoma  (IAGP)
Nystagmus  (IAGP)
Oligohydramnios  (IAGP)
Ovarian carcinoma  (IAGP)
Ovarian neoplasm  (IAGP)
Pancreatic adenocarcinoma  (IAGP)
Papillary thyroid carcinoma  (IAGP)
Patent ductus arteriosus  (IAGP)
Pelvic kidney  (IAGP)
Peritoneal abscess  (IAGP)
Pes planus  (IAGP)
Pilocytic astrocytoma  (IAGP)
Poor appetite  (IAGP)
Postnatal growth retardation  (IAGP)
Primary peritoneal carcinoma  (IAGP)
Proptosis  (IAGP)
Prostate cancer  (IAGP)
Ptosis  (IAGP)
Pyridoxine-responsive sideroblastic anemia  (IAGP)
Recurrent urinary tract infections  (IAGP)
Reduced bone mineral density  (IAGP)
Renal hypoplasia/aplasia  (IAGP)
Renal insufficiency  (IAGP)
Retinoblastoma  (IAGP)
Scoliosis  (IAGP)
Short neck  (IAGP)
Short palpebral fissure  (IAGP)
Short stature  (IAGP)
Short thumb  (IAGP)
Sloping forehead  (IAGP)
Small for gestational age  (IAGP)
Spina bifida  (IAGP)
Stomach cancer  (IAGP)
Strabismus  (IAGP)
Tetralogy of Fallot  (IAGP)
Thrombocytopenia  (IAGP)
Toe syndactyly  (IAGP)
Tracheoesophageal fistula  (IAGP)
Triphalangeal thumb  (IAGP)
Umbilical hernia  (IAGP)
Unilateral renal agenesis  (IAGP)
Upslanted palpebral fissure  (IAGP)
Uterine neoplasm  (IAGP)
Ventricular septal defect  (IAGP)
Ventriculomegaly  (IAGP)
Visual impairment  (IAGP)
Weight loss  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Familial breast cancer and DNA repair genes: Insights into known and novel susceptibility genes from the GENESIS study, and implications for multigene panel testing. Girard E, etal., Int J Cancer. 2019 Apr 15;144(8):1962-1974. doi: 10.1002/ijc.31921. Epub 2018 Nov 13.
2. Isoform-specific upregulation of palladin in human and murine pancreas tumors. Goicoechea SM, etal., PLoS One. 2010 Apr 26;5(4):e10347.
3. The Nrf2 regulatory network provides an interface between redox and intermediary metabolism. Hayes JD and Dinkova-Kostova AT, Trends Biochem Sci. 2014 Apr;39(4):199-218. doi: 10.1016/j.tibs.2014.02.002. Epub 2014 Mar 16.
4. Exomic sequencing identifies PALB2 as a pancreatic cancer susceptibility gene. Jones S, etal., Science. 2009 Apr 10;324(5924):217. Epub 2009 Mar 5.
5. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
6. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
7. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
8. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:12477932   PMID:14702039   PMID:15174051   PMID:15302935   PMID:15489334   PMID:16344560   PMID:16793542   PMID:17200668   PMID:17200671   PMID:17200672   PMID:17287723   PMID:17420451  
PMID:17554300   PMID:18053174   PMID:18281473   PMID:18288683   PMID:18302019   PMID:18446436   PMID:18501021   PMID:18557994   PMID:18628482   PMID:18637200   PMID:18794107   PMID:19011769  
PMID:19268590   PMID:19308021   PMID:19328558   PMID:19333784   PMID:19369211   PMID:19383810   PMID:19423707   PMID:19504183   PMID:19536649   PMID:19553677   PMID:19584259   PMID:19609323  
PMID:19690177   PMID:19714462   PMID:19748364   PMID:19763819   PMID:19763884   PMID:19863560   PMID:19913121   PMID:19921424   PMID:20003494   PMID:20091115   PMID:20122277   PMID:20180015  
PMID:20213081   PMID:20301575   PMID:20301753   PMID:20332121   PMID:20412113   PMID:20518497   PMID:20582465   PMID:20589654   PMID:20628086   PMID:20722467   PMID:20852946   PMID:20871615  
PMID:20871616   PMID:20872766   PMID:20927582   PMID:21113654   PMID:21153565   PMID:21165770   PMID:21182766   PMID:21184274   PMID:21254220   PMID:21285249   PMID:21356067   PMID:21365267  
PMID:21409391   PMID:21415078   PMID:21466675   PMID:21614589   PMID:21618343   PMID:21637299   PMID:21873635   PMID:21932393   PMID:21989927   PMID:22038470   PMID:22052327   PMID:22193777  
PMID:22194698   PMID:22241545   PMID:22244764   PMID:22293751   PMID:22310028   PMID:22331464   PMID:22505525   PMID:22658674   PMID:22692731   PMID:23038782   PMID:23110154   PMID:23302520  
PMID:23341105   PMID:23448497   PMID:23453885   PMID:23471749   PMID:23561644   PMID:23585894   PMID:23657012   PMID:23758548   PMID:23787919   PMID:23824750   PMID:23846919   PMID:23935836  
PMID:23977390   PMID:24061862   PMID:24085845   PMID:24136930   PMID:24141787   PMID:24153426   PMID:24285729   PMID:24415441   PMID:24460267   PMID:24485656   PMID:24556926   PMID:24591564  
PMID:24835992   PMID:24870022   PMID:24949998   PMID:24981860   PMID:24998779   PMID:25016020   PMID:25099575   PMID:25113031   PMID:25184681   PMID:25263539   PMID:25281560   PMID:25328949  
PMID:25356972   PMID:25529982   PMID:25542327   PMID:25636233   PMID:25640309   PMID:25652403   PMID:25666743   PMID:25794774   PMID:25798074   PMID:25833210   PMID:25959805   PMID:25960410  
PMID:26186194   PMID:26219241   PMID:26269593   PMID:26283626   PMID:26323318   PMID:26411315   PMID:26489409   PMID:26526077   PMID:26564480   PMID:26577449   PMID:26640152   PMID:26645143  
PMID:26833090   PMID:26981788   PMID:26990772   PMID:27106063   PMID:27113759   PMID:27277787   PMID:27328445   PMID:27453043   PMID:27464310   PMID:27469594   PMID:27490902   PMID:27573125  
PMID:27595995   PMID:27624329   PMID:27631815   PMID:27648926   PMID:27757719   PMID:27924011   PMID:28024868   PMID:28089683   PMID:28124401   PMID:28158555   PMID:28194609   PMID:28240985  
PMID:28279176   PMID:28319063   PMID:28398198   PMID:28416489   PMID:28418444   PMID:28514442   PMID:28673974   PMID:28765325   PMID:28779002   PMID:28791855   PMID:28796317   PMID:28825143  
PMID:28858227   PMID:29431189   PMID:29470806   PMID:29499138   PMID:29507755   PMID:29656893   PMID:29706558   PMID:29802286   PMID:29988077   PMID:30126895   PMID:30255452   PMID:30309218  
PMID:30337689   PMID:30362319   PMID:30410870   PMID:30458447   PMID:30521987   PMID:30552643   PMID:30560944   PMID:30613976   PMID:30614742   PMID:30638972   PMID:30686591   PMID:30804502  
PMID:31017574   PMID:31089269   PMID:31206626   PMID:31257023   PMID:31586400   PMID:31619740   PMID:31636395   PMID:31685642   PMID:31841383   PMID:32029870   PMID:32041954   PMID:32048105  
PMID:32058061   PMID:32296183   PMID:32300229   PMID:32339256   PMID:32531196   PMID:32546565   PMID:32669374   PMID:32996020   PMID:32997802   PMID:33139182   PMID:33169439   PMID:33186520  
PMID:33414401   PMID:33438746   PMID:33512806   PMID:33536335   PMID:33536619   PMID:33567341   PMID:33660365   PMID:33811135   PMID:33854214   PMID:33961781   PMID:33964450   PMID:34006922  
PMID:34036661   PMID:34079125   PMID:34113003   PMID:34189442   PMID:34245638   PMID:34408138   PMID:34591612   PMID:34687993   PMID:34709266   PMID:34846068   PMID:34946951   PMID:35277653  
PMID:35363308   PMID:35396271   PMID:35575683   PMID:35608067   PMID:35610400   PMID:35636729   PMID:35762214   PMID:36175305   PMID:36411032   PMID:36623243   PMID:36724073   PMID:36758349  
PMID:36997402   PMID:37169825   PMID:37515473   PMID:37592023   PMID:38061684   PMID:38597967   PMID:38914840   PMID:39617063   PMID:40437099  


Genomics

Comparative Map Data
PALB2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381623,603,165 - 23,641,310 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1623,603,160 - 23,641,321 (-)Ensemblhg38GRCh38
GRCh371623,614,486 - 23,652,631 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361623,521,984 - 23,560,179 (-)NCBIBuild 36Build 36hg18NCBI36
Celera1622,392,663 - 22,430,856 (-)NCBICelera
Cytogenetic Map16p12.2NCBI
HuRef1621,704,596 - 21,742,312 (-)NCBIHuRef
CHM1_11624,626,195 - 24,664,406 (-)NCBICHM1_1
T2T-CHM13v2.01623,878,974 - 23,917,118 (-)NCBIT2T-CHM13v2.0
Palb2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm397121,706,485 - 121,732,203 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl7121,706,485 - 121,732,208 (-)EnsemblGRCm39 EnsemblGRCm39
GRCm387122,107,262 - 122,132,980 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl7122,107,262 - 122,132,985 (-)Ensemblmm10GRCm38
MGSCv377129,250,779 - 129,276,460 (-)NCBIMGSCv37MGSCv37mm9NCBIm37
MGSCv367121,898,410 - 121,924,094 (-)NCBIMGSCv36mm8
Celera7121,997,482 - 122,023,184 (-)NCBICelera
Cytogenetic Map7F2NCBI
cM Map765.42NCBI
Palb2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81186,096,312 - 186,120,284 (-)NCBIGRCr8GRCr8GRCr8
GRCr8 Ensembl1186,096,312 - 186,120,302 (-)EnsemblGRCr8
mRatBN7.21176,665,076 - 176,689,053 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1176,665,076 - 176,688,990 (-)EnsemblmRatBN7.2
UTH_Rnor_SHR_Utx1184,992,979 - 185,016,822 (-)NCBIUTH_Rnor_SHR_UtxUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01192,178,931 - 192,202,778 (-)NCBIUTH_Rnor_SHRSP_BbbUtx_1.0UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01184,862,806 - 184,886,736 (-)NCBIUTH_Rnor_WKY_Bbb_1.0UTH_Rnor_WKY_Bbb_1.0
Rnor_6.01192,064,586 - 192,088,547 (-)NCBIRnor_6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1192,064,589 - 192,088,520 (-)Ensemblrn6Rnor6.0
Rnor_5.01199,127,037 - 199,151,000 (-)NCBIRnor_5.0Rnor_5.0rn5
RGSC_v3.41180,928,710 - 180,952,518 (-)NCBIRGSC_v3.4RGSC_v3.4rn4
Celera1174,374,846 - 174,398,646 (-)NCBICelera
RGSC_v3.11181,068,861 - 181,092,509 (-)NCBI
Cytogenetic Map1q36NCBI
Palb2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554932,147,862 - 2,175,781 (-)Ensembl
ChiLan1.0NW_0049554932,149,053 - 2,175,482 (-)NCBIChiLan1.0ChiLan1.0
PALB2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21825,014,158 - 25,051,771 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11629,533,625 - 29,571,237 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01614,470,367 - 14,507,841 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11623,855,535 - 23,892,117 (-)NCBIPanPan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1623,855,535 - 23,892,117 (-)EnsemblpanPan2panpan1.1
PALB2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1622,209,711 - 22,237,798 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl622,209,384 - 22,237,745 (+)EnsemblcanFam3CanFam3.1
Dog10K_Boxer_Tasha623,776,491 - 23,804,551 (+)NCBIDog10K_Boxer_TashaDog10K_Boxer_Tasha
ROS_Cfam_1.0622,353,561 - 22,380,176 (+)NCBIROS_Cfam_1.0ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl622,353,713 - 22,380,121 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1622,156,874 - 22,184,970 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0622,059,465 - 22,087,651 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0622,454,545 - 22,482,727 (+)NCBIUU_Cfam_GSD_1.0UU_Cfam_GSD_1.0
Palb2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024409344120,149,046 - 120,175,487 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365018,247,190 - 8,273,207 (-)EnsemblSpeTri2.0 Ensembl
SpeTri2.0NW_0049365018,246,927 - 8,273,258 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PALB2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl322,586,856 - 22,612,834 (+)EnsemblsusScr11Sscrofa11.1
Sscrofa11.1322,586,881 - 22,612,837 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21017,289 - 43,988 (+)NCBISscrofa10.2Sscrofa10.2susScr3
PALB2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1521,322,952 - 21,358,363 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl521,322,975 - 21,358,198 (-)EnsemblChlSab1.1 EnsemblchlSab2Vervet-AGM
Vero_WHO_p1.0NW_0236660688,438,801 - 8,475,516 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Palb2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247828,751,866 - 8,780,884 (-)EnsemblHetGla_female_1.0 EnsemblhetGla2HetGla_female_1.0 Ensembl
HetGla 1.0NW_0046247828,752,510 - 8,780,972 (-)NCBIHetGla 1.0HetGla 1.0hetGla2

Variants

.
Variants in PALB2
5680 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_024675.4(PALB2):c.1082_1120del (p.Thr361_Glu373del) deletion Familial cancer of breast [RCV001344449]|Hereditary cancer-predisposing syndrome [RCV000568772] Chr16:23635426..23635464 [GRCh38]
Chr16:23646747..23646785 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.3013T>A (p.Phe1005Ile) single nucleotide variant Familial cancer of breast [RCV001858328]|Hereditary cancer-predisposing syndrome [RCV000568784] Chr16:23621462 [GRCh38]
Chr16:23632783 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2642G>A (p.Gly881Asp) single nucleotide variant Familial cancer of breast [RCV000526053]|Hereditary cancer-predisposing syndrome [RCV001016191]|not provided [RCV000590337] Chr16:23626342 [GRCh38]
Chr16:23637663 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2088G>A (p.Thr696=) single nucleotide variant Familial cancer of breast [RCV001088154]|Hereditary cancer-predisposing syndrome [RCV001014387] Chr16:23630066 [GRCh38]
Chr16:23641387 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.3253T>C (p.Leu1085=) single nucleotide variant Familial cancer of breast [RCV005091317]|Hereditary cancer-predisposing syndrome [RCV000561034] Chr16:23607961 [GRCh38]
Chr16:23619282 [GRCh37]
Chr16:16p12.2		 likely benign
NM_024675.4(PALB2):c.3091A>G (p.Ile1031Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000561086] Chr16:23621384 [GRCh38]
Chr16:23632705 [GRCh37]
Chr16:16p12.2		 likely benign|conflicting interpretations of pathogenicity
NM_024675.4(PALB2):c.1675C>T (p.Gln559Ter) single nucleotide variant Familial cancer of breast [RCV000989568]|Gastric cancer [RCV003159958]|Hereditary cancer-predisposing syndrome [RCV000566479]|not provided [RCV001800773] Chr16:23634871 [GRCh38]
Chr16:23646192 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.42G>A (p.Lys14=) single nucleotide variant Familial cancer of breast [RCV000526302]|Hereditary cancer-predisposing syndrome [RCV002330852] Chr16:23641116 [GRCh38]
Chr16:23652437 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.1994A>T (p.Asp665Val) single nucleotide variant Familial cancer of breast [RCV001324301]|Hereditary cancer-predisposing syndrome [RCV000563467] Chr16:23630160 [GRCh38]
Chr16:23641481 [GRCh37]
Chr16:16p12.2		 likely benign|uncertain significance
NM_024675.4(PALB2):c.1086T>C (p.Leu362=) single nucleotide variant Familial cancer of breast [RCV000537867]|Hereditary cancer-predisposing syndrome [RCV000563563] Chr16:23635460 [GRCh38]
Chr16:23646781 [GRCh37]
Chr16:16p12.2		 likely benign
NM_024675.4(PALB2):c.935G>A (p.Ser312Asn) single nucleotide variant Familial cancer of breast [RCV000553560]|Hereditary cancer-predisposing syndrome [RCV000567058]|not provided [RCV001800745] Chr16:23635611 [GRCh38]
Chr16:23646932 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.2621C>A (p.Ala874Asp) single nucleotide variant Familial cancer of breast [RCV001351087]|Hereditary cancer-predisposing syndrome [RCV000561509] Chr16:23626363 [GRCh38]
Chr16:23637684 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2866G>A (p.Glu956Lys) single nucleotide variant Familial cancer of breast [RCV000548954]|Hereditary cancer-predisposing syndrome [RCV001016830]|not provided [RCV003478138]|not specified [RCV003493628] Chr16:23623099 [GRCh38]
Chr16:23634420 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.3236C>T (p.Ala1079Val) single nucleotide variant Breast-ovarian cancer, familial, susceptibility to, 5 [RCV003315435]|Familial cancer of breast [RCV000555643]|Hereditary cancer-predisposing syndrome [RCV000574629]|not provided [RCV002254932]|not specified [RCV004767344] Chr16:23607978 [GRCh38]
Chr16:23619299 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.442_457dup (p.Arg153fs) duplication Familial cancer of breast [RCV000556316]|Hereditary cancer-predisposing syndrome [RCV000567132] Chr16:23636088..23636089 [GRCh38]
Chr16:23647409..23647410 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.481G>C (p.Asp161His) single nucleotide variant Familial cancer of breast [RCV000817677]|Hereditary cancer-predisposing syndrome [RCV000566918]|not provided [RCV003318597]|not specified [RCV002268179] Chr16:23636065 [GRCh38]
Chr16:23647386 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.2111T>G (p.Leu704Arg) single nucleotide variant Familial cancer of breast [RCV000543544]|Hereditary cancer-predisposing syndrome [RCV002420405] Chr16:23630043 [GRCh38]
Chr16:23641364 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.3299_3306dup (p.Val1103fs) duplication Familial cancer of breast [RCV000543578]|Hereditary cancer-predisposing syndrome [RCV002323942]|not provided [RCV000657412] Chr16:23607907..23607908 [GRCh38]
Chr16:23619228..23619229 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.2095T>A (p.Ser699Thr) single nucleotide variant Familial cancer of breast [RCV001222882]|Hereditary cancer-predisposing syndrome [RCV000561815] Chr16:23630059 [GRCh38]
Chr16:23641380 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1490del (p.Asn497fs) deletion Familial cancer of breast [RCV000527507]|Familial cancer of breast [RCV003483659]|Hereditary cancer-predisposing syndrome [RCV000567362]|not provided [RCV004592564] Chr16:23635056 [GRCh38]
Chr16:23646377 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic|not provided
NM_024675.4(PALB2):c.1293T>G (p.Ser431Arg) single nucleotide variant Familial cancer of breast [RCV000530618]|Hereditary cancer-predisposing syndrome [RCV000575371]|not specified [RCV001821526] Chr16:23635253 [GRCh38]
Chr16:23646574 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.3152T>A (p.Ile1051Asn) single nucleotide variant Familial cancer of breast [RCV000796970]|Hereditary cancer-predisposing syndrome [RCV000565402]|not provided [RCV005000245] Chr16:23614053 [GRCh38]
Chr16:23625374 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2290A>G (p.Lys764Glu) single nucleotide variant Familial cancer of breast [RCV000551829]|Hereditary cancer-predisposing syndrome [RCV000771302] Chr16:23629864 [GRCh38]
Chr16:23641185 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1985A>G (p.Lys662Arg) single nucleotide variant Familial cancer of breast [RCV000810498]|Hereditary cancer-predisposing syndrome [RCV000564025] Chr16:23630169 [GRCh38]
Chr16:23641490 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1704_1707del (p.Lys569fs) deletion Breast carcinoma [RCV001644632]|Familial cancer of breast [RCV000524877]|Hereditary cancer-predisposing syndrome [RCV002404412] Chr16:23630447..23630450 [GRCh38]
Chr16:23641768..23641771 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic
NM_024675.4(PALB2):c.3518C>A (p.Ala1173Asp) single nucleotide variant Familial cancer of breast [RCV003476346]|Hereditary cancer-predisposing syndrome [RCV000564099] Chr16:23603502 [GRCh38]
Chr16:23614823 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2338G>T (p.Gly780Cys) single nucleotide variant Familial cancer of breast [RCV002528995]|Hereditary cancer-predisposing syndrome [RCV000567772]|not provided [RCV004777752] Chr16:23629816 [GRCh38]
Chr16:23641137 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2892A>G (p.Gly964=) single nucleotide variant Familial cancer of breast [RCV001398924]|Hereditary cancer-predisposing syndrome [RCV000565583]|not provided [RCV000932640]|not specified [RCV000614342] Chr16:23623073 [GRCh38]
Chr16:23634394 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.801_802dup (p.Lys268fs) duplication Familial cancer of breast [RCV000544422]|Hereditary breast ovarian cancer syndrome [RCV000588990] Chr16:23635743..23635744 [GRCh38]
Chr16:23647064..23647065 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic
NM_024675.4(PALB2):c.1564C>G (p.Pro522Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000565781] Chr16:23634982 [GRCh38]
Chr16:23646303 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.3154GAT[1] (p.Asp1053del) microsatellite Hereditary cancer-predisposing syndrome [RCV000565882]|not specified [RCV001821678] Chr16:23614046..23614048 [GRCh38]
Chr16:23625367..23625369 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2072G>A (p.Ser691Asn) single nucleotide variant Familial cancer of breast [RCV000530168]|Hereditary cancer-predisposing syndrome [RCV001014295]|not provided [RCV003441924] Chr16:23630082 [GRCh38]
Chr16:23641403 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.3157_3160del (p.Asp1053fs) deletion Familial cancer of breast [RCV000539893]|Hereditary cancer-predisposing syndrome [RCV000567119] Chr16:23614045..23614048 [GRCh38]
Chr16:23625366..23625369 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.1012C>A (p.Pro338Thr) single nucleotide variant Familial cancer of breast [RCV001858211]|Hereditary cancer-predisposing syndrome [RCV000566139] Chr16:23635534 [GRCh38]
Chr16:23646855 [GRCh37]
Chr16:16p12.2		 likely benign|uncertain significance
NM_024675.4(PALB2):c.505C>T (p.Leu169Phe) single nucleotide variant Familial cancer of breast [RCV000545210]|Hereditary cancer-predisposing syndrome [RCV004943962] Chr16:23636041 [GRCh38]
Chr16:23647362 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2225C>T (p.Ser742Phe) single nucleotide variant Familial cancer of breast [RCV000545177]|Hereditary cancer-predisposing syndrome [RCV000574306] Chr16:23629929 [GRCh38]
Chr16:23641250 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2509G>C (p.Glu837Gln) single nucleotide variant Familial cancer of breast [RCV001305394]|Hereditary cancer-predisposing syndrome [RCV000566274]|not provided [RCV004592701] Chr16:23629645 [GRCh38]
Chr16:23640966 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.276T>G (p.Thr92=) single nucleotide variant Familial cancer of breast [RCV000545630]|Hereditary cancer-predisposing syndrome [RCV002438334]|not specified [RCV003323597] Chr16:23636270 [GRCh38]
Chr16:23647591 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.1795del (p.Ser599fs) deletion Familial cancer of breast [RCV005091351]|Hereditary cancer-predisposing syndrome [RCV000563104] Chr16:23630359 [GRCh38]
Chr16:23641680 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.600A>G (p.Leu200=) single nucleotide variant Familial cancer of breast [RCV001419088]|Hereditary cancer-predisposing syndrome [RCV000569277] Chr16:23635946 [GRCh38]
Chr16:23647267 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.1532G>A (p.Arg511Lys) single nucleotide variant Familial cancer of breast [RCV000532982]|Hereditary cancer-predisposing syndrome [RCV002395344] Chr16:23635014 [GRCh38]
Chr16:23646335 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1506G>C (p.Lys502Asn) single nucleotide variant Familial cancer of breast [RCV000691734]|Hereditary cancer-predisposing syndrome [RCV000563604] Chr16:23635040 [GRCh38]
Chr16:23646361 [GRCh37]
Chr16:16p12.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.630A>G (p.Pro210=) single nucleotide variant Familial cancer of breast [RCV003500552]|Hereditary cancer-predisposing syndrome [RCV000565736] Chr16:23635916 [GRCh38]
Chr16:23647237 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.3130C>T (p.Gln1044Ter) single nucleotide variant Familial cancer of breast [RCV000700246]|Hereditary breast ovarian cancer syndrome [RCV003155951]|Hereditary cancer-predisposing syndrome [RCV000565870] Chr16:23614075 [GRCh38]
Chr16:23625396 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic
NM_024675.4(PALB2):c.1939C>T (p.His647Tyr) single nucleotide variant Familial cancer of breast [RCV000692136]|Hereditary cancer-predisposing syndrome [RCV000567935]|not provided [RCV000587201] Chr16:23630215 [GRCh38]
Chr16:23641536 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1685-2A>G single nucleotide variant Breast-ovarian cancer, familial, susceptibility to, 5 [RCV005411471]|Familial cancer of breast [RCV001037839]|Hereditary cancer-predisposing syndrome [RCV000568799]|PALB2-related disorder [RCV004527630]|not provided [RCV000519126] Chr16:23630471 [GRCh38]
Chr16:23641792 [GRCh37]
Chr16:16p12.2		 likely pathogenic|uncertain significance
NM_024675.4(PALB2):c.892G>A (p.Val298Ile) single nucleotide variant Breast-ovarian cancer, familial, susceptibility to, 5 [RCV005357568]|Familial cancer of breast [RCV000551680]|Hereditary cancer-predisposing syndrome [RCV000563746]|not provided [RCV001800744] Chr16:23635654 [GRCh38]
Chr16:23646975 [GRCh37]
Chr16:16p12.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.2608G>T (p.Val870Leu) single nucleotide variant Familial cancer of breast [RCV000525255]|Hereditary cancer-predisposing syndrome [RCV000565637] Chr16:23626376 [GRCh38]
Chr16:23637697 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.3132A>T (p.Gln1044His) single nucleotide variant Familial cancer of breast [RCV000527442]|Hereditary cancer-predisposing syndrome [RCV000564415]|PALB2-related disorder [RCV004527638] Chr16:23614073 [GRCh38]
Chr16:23625394 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1192del (p.Val398fs) deletion Familial cancer of breast [RCV000818431]|Hereditary cancer-predisposing syndrome [RCV000565917]|Malignant tumor of breast [RCV001357628]|Neoplasm of uterus [RCV002245019]|not provided [RCV002275087] Chr16:23635354 [GRCh38]
Chr16:23646675 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic
NM_024675.4(PALB2):c.2221G>A (p.Gly741Ser) single nucleotide variant Familial cancer of breast [RCV000690008]|Hereditary cancer-predisposing syndrome [RCV000565945]|not provided [RCV001030287] Chr16:23629933 [GRCh38]
Chr16:23641254 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.2412T>C (p.Ser804=) single nucleotide variant Familial cancer of breast [RCV005056200]|Hereditary cancer-predisposing syndrome [RCV000565977] Chr16:23629742 [GRCh38]
Chr16:23641063 [GRCh37]
Chr16:16p12.2		 likely benign
NM_024675.4(PALB2):c.41A>G (p.Lys14Arg) single nucleotide variant Familial cancer of breast [RCV000550310] Chr16:23641117 [GRCh38]
Chr16:23652438 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.651T>C (p.Asn217=) single nucleotide variant Familial cancer of breast [RCV002060523]|Hereditary cancer-predisposing syndrome [RCV000567939] Chr16:23635895 [GRCh38]
Chr16:23647216 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.2907G>A (p.Val969=) single nucleotide variant Familial cancer of breast [RCV000542295]|Hereditary cancer-predisposing syndrome [RCV002438335] Chr16:23623058 [GRCh38]
Chr16:23634379 [GRCh37]
Chr16:16p12.2		 likely benign
NM_024675.4(PALB2):c.1243A>T (p.Ser415Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000560932] Chr16:23635303 [GRCh38]
Chr16:23646624 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2619T>A (p.Ser873Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000563907] Chr16:23626365 [GRCh38]
Chr16:23637686 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.525A>G (p.Arg175=) single nucleotide variant Familial cancer of breast [RCV000529109]|Hereditary cancer-predisposing syndrome [RCV000567061]|not provided [RCV001697021]|not specified [RCV003479153] Chr16:23636021 [GRCh38]
Chr16:23647342 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.927A>C (p.Ile309=) single nucleotide variant Familial cancer of breast [RCV000547368]|Hereditary cancer-predisposing syndrome [RCV000582870] Chr16:23635619 [GRCh38]
Chr16:23646940 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.965A>G (p.Glu322Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000568198] Chr16:23635581 [GRCh38]
Chr16:23646902 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.509G>C (p.Arg170Thr) single nucleotide variant Familial cancer of breast [RCV000818311]|Hereditary cancer-predisposing syndrome [RCV000564267]|not provided [RCV001030155] Chr16:23636037 [GRCh38]
Chr16:23647358 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.2947A>G (p.Thr983Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000566438] Chr16:23623018 [GRCh38]
Chr16:23634339 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1858G>C (p.Gly620Arg) single nucleotide variant Familial cancer of breast [RCV000531505]|Hereditary cancer-predisposing syndrome [RCV004023846]|not provided [RCV001565817] Chr16:23630296 [GRCh38]
Chr16:23641617 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.3201+4del deletion Familial cancer of breast [RCV000635647]|Hereditary cancer-predisposing syndrome [RCV000568448] Chr16:23614000 [GRCh38]
Chr16:23625321 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2461A>T (p.Asn821Tyr) single nucleotide variant Familial cancer of breast [RCV001240791]|Hereditary cancer-predisposing syndrome [RCV000561459]|not specified [RCV003151105] Chr16:23629693 [GRCh38]
Chr16:23641014 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.706T>A (p.Phe236Ile) single nucleotide variant Familial cancer of breast [RCV000554280]|Hereditary cancer-predisposing syndrome [RCV002367813] Chr16:23635840 [GRCh38]
Chr16:23647161 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1821C>T (p.Leu607=) single nucleotide variant Familial cancer of breast [RCV005091319]|Hereditary cancer-predisposing syndrome [RCV000568660]|not specified [RCV000780573] Chr16:23630333 [GRCh38]
Chr16:23641654 [GRCh37]
Chr16:16p12.2		 benign|likely benign|uncertain significance
NM_024675.4(PALB2):c.7G>A (p.Glu3Lys) single nucleotide variant Familial cancer of breast [RCV001064138]|Hereditary cancer-predisposing syndrome [RCV000561851] Chr16:23641151 [GRCh38]
Chr16:23652472 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2213G>A (p.Gly738Asp) single nucleotide variant Familial cancer of breast [RCV000697044]|Hereditary cancer-predisposing syndrome [RCV000564730] Chr16:23629941 [GRCh38]
Chr16:23641262 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1891T>C (p.Ser631Pro) single nucleotide variant Familial cancer of breast [RCV001341193]|Hereditary cancer-predisposing syndrome [RCV000564796]|not provided [RCV003159138] Chr16:23630263 [GRCh38]
Chr16:23641584 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1063T>G (p.Leu355Val) single nucleotide variant Familial cancer of breast [RCV001047469]|Hereditary cancer-predisposing syndrome [RCV000564838] Chr16:23635483 [GRCh38]
Chr16:23646804 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1886C>T (p.Ser629Phe) single nucleotide variant Familial cancer of breast [RCV000532304]|Hereditary cancer-predisposing syndrome [RCV000771674]|not specified [RCV001280599] Chr16:23630268 [GRCh38]
Chr16:23641589 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.290C>A (p.Ser97Tyr) single nucleotide variant Familial cancer of breast [RCV000554765]|Hereditary cancer-predisposing syndrome [RCV000580967] Chr16:23636256 [GRCh38]
Chr16:23647577 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.679G>A (p.Ala227Thr) single nucleotide variant Familial cancer of breast [RCV000549559]|Hereditary cancer-predisposing syndrome [RCV000565165]|not provided [RCV001538307]|not specified [RCV000588764] Chr16:23635867 [GRCh38]
Chr16:23647188 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1684+1G>A single nucleotide variant Familial cancer of breast [RCV001046985]|Hereditary cancer-predisposing syndrome [RCV000564967]|not provided [RCV003736822] Chr16:23634861 [GRCh38]
Chr16:23646182 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic|uncertain significance
NM_024675.4(PALB2):c.364G>A (p.Asp122Asn) single nucleotide variant Carcinoma of colon [RCV001030144]|Familial cancer of breast [RCV000822879]|Hereditary cancer-predisposing syndrome [RCV000568891]|not provided [RCV001692209] Chr16:23636182 [GRCh38]
Chr16:23647503 [GRCh37]
Chr16:16p12.2		 likely benign|uncertain significance
NM_024675.4(PALB2):c.3455C>T (p.Pro1152Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000562323] Chr16:23603565 [GRCh38]
Chr16:23614886 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2382G>T (p.Arg794Ser) single nucleotide variant Familial cancer of breast [RCV001049868]|Hereditary cancer-predisposing syndrome [RCV000562427] Chr16:23629772 [GRCh38]
Chr16:23641093 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1731T>C (p.Asn577=) single nucleotide variant Familial cancer of breast [RCV005426182]|Hereditary cancer-predisposing syndrome [RCV000568996] Chr16:23630423 [GRCh38]
Chr16:23641744 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.2732C>A (p.Thr911Asn) single nucleotide variant Familial cancer of breast [RCV000685459]|Hereditary cancer-predisposing syndrome [RCV000562850]|not provided [RCV003478238]|not specified [RCV001844198] Chr16:23626252 [GRCh38]
Chr16:23637573 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1071_1072del (p.Pro358fs) microsatellite Familial cancer of breast [RCV003607309]|Hereditary cancer-predisposing syndrome [RCV000565551] Chr16:23635474..23635475 [GRCh38]
Chr16:23646795..23646796 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.349C>A (p.Pro117Thr) single nucleotide variant Breast-ovarian cancer, familial, susceptibility to, 5 [RCV003444602]|Familial cancer of breast [RCV000684939]|Hereditary cancer-predisposing syndrome [RCV000567477]|not provided [RCV003237929] Chr16:23636197 [GRCh38]
Chr16:23647518 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.905del (p.Asn302fs) deletion Hereditary cancer-predisposing syndrome [RCV000565598] Chr16:23635641 [GRCh38]
Chr16:23646962 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.2452T>C (p.Phe818Leu) single nucleotide variant Familial cancer of breast [RCV000546200]|Hereditary cancer-predisposing syndrome [RCV001180795] Chr16:23629702 [GRCh38]
Chr16:23641023 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.833_834delinsAT (p.Leu278His) indel Breast-ovarian cancer, familial, susceptibility to, 5 [RCV003315409]|Familial cancer of breast [RCV000204991]|Familial cancer of breast [RCV002477318]|Hereditary cancer-predisposing syndrome [RCV000131311]|Malignant tumor of breast [RCV001005025]|PALB2-related disorder [RCV004528835]|not provided [RCV000160815]|not specified [RCV000121746] Chr16:23635712..23635713 [GRCh38]
Chr16:23647033..23647034 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance|not provided
PALB2:c.49-?_2586+?del deletion Fanconi anemia complementation group N [RCV000001303] Chr16:16p12 pathogenic
PALB2, 1-BP DEL, 3116A deletion Fanconi anemia, complementation group N [RCV000001308]|Breast cancer, susceptibility to [RCV000001309]|Pancreatic cancer 3 [RCV000030870] Chr16:16p12 pathogenic|risk factor
PALB2, 1-BP DEL, 1592T deletion Breast cancer, susceptibility to [RCV000001310] Chr16:16p12 risk factor
PALB2, 4-BP DEL, 172TTGT deletion Pancreatic cancer 3 [RCV000001311] Chr16:16p12 risk factor
PALB2, IVS5, G-T, -1 single nucleotide variant Pancreatic cancer 3 [RCV000001312] Chr16:16p12 risk factor
PALB2, 3256C-T single nucleotide variant Pancreatic cancer 3 [RCV000001314] Chr16:16p12 risk factor
NM_024675.4(PALB2):c.1915G>A (p.Glu639Lys) single nucleotide variant Familial cancer of breast [RCV005091318]|Hereditary cancer-predisposing syndrome [RCV000561094] Chr16:23630239 [GRCh38]
Chr16:23641560 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.3201G>A (p.Met1067Ile) single nucleotide variant Familial cancer of breast [RCV000635884]|Hereditary cancer-predisposing syndrome [RCV000561229] Chr16:23614004 [GRCh38]
Chr16:23625325 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.1841T>C (p.Leu614Ser) single nucleotide variant Familial cancer of breast [RCV002526811]|Hereditary cancer-predisposing syndrome [RCV000561839]|not provided [RCV005000253] Chr16:23630313 [GRCh38]
Chr16:23641634 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.999C>G (p.Thr333=) single nucleotide variant Familial cancer of breast [RCV000543845] Chr16:23635547 [GRCh38]
Chr16:23646868 [GRCh37]
Chr16:16p12.2		 likely benign
NM_024675.4(PALB2):c.2149G>A (p.Asp717Asn) single nucleotide variant Familial cancer of breast [RCV002528017]|Hereditary cancer-predisposing syndrome [RCV000562067] Chr16:23630005 [GRCh38]
Chr16:23641326 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2837del (p.Ala946fs) deletion Hereditary cancer-predisposing syndrome [RCV000562315] Chr16:23623128 [GRCh38]
Chr16:23634449 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.2026A>C (p.Ile676Leu) single nucleotide variant Familial cancer of breast [RCV000764049]|Familial cancer of breast [RCV000989562]|Hereditary cancer-predisposing syndrome [RCV000563462] Chr16:23630128 [GRCh38]
Chr16:23641449 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.3159T>C (p.Asp1053=) single nucleotide variant Familial cancer of breast [RCV005427028]|Hereditary cancer-predisposing syndrome [RCV000562763]|not specified [RCV000606493] Chr16:23614046 [GRCh38]
Chr16:23625367 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.2131G>A (p.Val711Ile) single nucleotide variant Familial cancer of breast [RCV000531730]|Hereditary cancer-predisposing syndrome [RCV000571134] Chr16:23630023 [GRCh38]
Chr16:23641344 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2962_2963del (p.Gln988fs) deletion Familial cancer of breast [RCV003451224]|Hereditary cancer-predisposing syndrome [RCV000564176] Chr16:23623002..23623003 [GRCh38]
Chr16:23634323..23634324 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic
NM_024675.4(PALB2):c.3060A>G (p.Gln1020=) single nucleotide variant Familial cancer of breast [RCV001445003]|Hereditary cancer-predisposing syndrome [RCV000562992]|not provided [RCV001030373] Chr16:23621415 [GRCh38]
Chr16:23632736 [GRCh37]
Chr16:16p12.2		 benign|likely benign|uncertain significance
NM_024675.4(PALB2):c.2319T>C (p.Thr773=) single nucleotide variant Familial cancer of breast [RCV000527401]|Hereditary cancer-predisposing syndrome [RCV000570160]|not specified [RCV001030297] Chr16:23629835 [GRCh38]
Chr16:23641156 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.808A>G (p.Ser270Gly) single nucleotide variant Familial cancer of breast [RCV000807027]|Hereditary cancer-predisposing syndrome [RCV000563900]|not provided [RCV000985895] Chr16:23635738 [GRCh38]
Chr16:23647059 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.2918C>T (p.Thr973Ile) single nucleotide variant Familial cancer of breast [RCV000814692]|Hereditary cancer-predisposing syndrome [RCV000561217]|not provided [RCV000757593] Chr16:23623047 [GRCh38]
Chr16:23634368 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2071A>G (p.Ser691Gly) single nucleotide variant Familial cancer of breast [RCV002526791]|Hereditary cancer-predisposing syndrome [RCV000561320] Chr16:23630083 [GRCh38]
Chr16:23641404 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1165C>G (p.Leu389Val) single nucleotide variant Familial cancer of breast [RCV000552765]|Hereditary cancer-predisposing syndrome [RCV000777229]|not provided [RCV003236811] Chr16:23635381 [GRCh38]
Chr16:23646702 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.1945A>T (p.Lys649Ter) single nucleotide variant Familial cancer of breast [RCV001224726]|Hereditary cancer-predisposing syndrome [RCV000563292] Chr16:23630209 [GRCh38]
Chr16:23641530 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.718C>A (p.Pro240Thr) single nucleotide variant Familial cancer of breast [RCV000530439]|Fanconi anemia complementation group N [RCV001118312]|Hereditary cancer-predisposing syndrome [RCV000568617]|not provided [RCV001030167] Chr16:23635828 [GRCh38]
Chr16:23647149 [GRCh37]
Chr16:16p12.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.1326T>C (p.Asn442=) single nucleotide variant Familial cancer of breast [RCV000543081]|not specified [RCV000599738] Chr16:23635220 [GRCh38]
Chr16:23646541 [GRCh37]
Chr16:16p12.2		 likely benign
NM_024675.4(PALB2):c.1052C>T (p.Thr351Ile) single nucleotide variant Familial cancer of breast [RCV000543661] Chr16:23635494 [GRCh38]
Chr16:23646815 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.212-9C>T single nucleotide variant Familial cancer of breast [RCV000989580]|Hereditary cancer-predisposing syndrome [RCV000777568]|not specified [RCV000602709] Chr16:23636343 [GRCh38]
Chr16:23647664 [GRCh37]
Chr16:16p12.2		 likely benign
NM_024675.4(PALB2):c.319T>A (p.Phe107Ile) single nucleotide variant Familial cancer of breast [RCV000548393]|Hereditary cancer-predisposing syndrome [RCV005384761] Chr16:23636227 [GRCh38]
Chr16:23647548 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1643C>T (p.Ser548Leu) single nucleotide variant Familial cancer of breast [RCV000547156]|Hereditary cancer-predisposing syndrome [RCV000571222]|not provided [RCV002259347] Chr16:23634903 [GRCh38]
Chr16:23646224 [GRCh37]
Chr16:16p12.2		 likely benign|uncertain significance
NM_024675.4(PALB2):c.3476G>T (p.Trp1159Leu) single nucleotide variant Familial cancer of breast [RCV000547300]|Hereditary cancer-predisposing syndrome [RCV000564987]|not provided [RCV003329296]|not specified [RCV003317262] Chr16:23603544 [GRCh38]
Chr16:23614865 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.1292G>A (p.Ser431Asn) single nucleotide variant Familial cancer of breast [RCV000635950]|Hereditary cancer-predisposing syndrome [RCV000561985]|not specified [RCV000780557] Chr16:23635254 [GRCh38]
Chr16:23646575 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.2234A>G (p.Lys745Arg) single nucleotide variant Carcinoma of colon [RCV001030288]|Familial cancer of breast [RCV000689640]|Familial cancer of breast [RCV002491122]|Hereditary cancer-predisposing syndrome [RCV000566180]|not provided [RCV001775883] Chr16:23629920 [GRCh38]
Chr16:23641241 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.1390A>G (p.Arg464Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000562082] Chr16:23635156 [GRCh38]
Chr16:23646477 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.3231C>A (p.Pro1077=) single nucleotide variant Familial cancer of breast [RCV000554232]|Hereditary cancer-predisposing syndrome [RCV000566988] Chr16:23607983 [GRCh38]
Chr16:23619304 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.1627A>G (p.Lys543Glu) single nucleotide variant Familial cancer of breast [RCV000635743]|Hereditary cancer-predisposing syndrome [RCV000565142]|not provided [RCV002274068] Chr16:23634919 [GRCh38]
Chr16:23646240 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.828C>T (p.His276=) single nucleotide variant Familial cancer of breast [RCV000557022]|Familial ovarian cancer [RCV001357885]|Fanconi anemia complementation group N [RCV001118311]|Hereditary cancer-predisposing syndrome [RCV000567452]|Malignant tumor of breast [RCV001354533]|not provided [RCV001171908] Chr16:23635718 [GRCh38]
Chr16:23647039 [GRCh37]
Chr16:16p12.2		 benign|likely benign|uncertain significance
NM_024675.4(PALB2):c.1702C>T (p.Gln568Ter) single nucleotide variant Familial cancer of breast [RCV000549307]|Hereditary cancer-predisposing syndrome [RCV002413486] Chr16:23630452 [GRCh38]
Chr16:23641773 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.2895T>C (p.Asn965=) single nucleotide variant Familial cancer of breast [RCV000549312]|Hereditary cancer-predisposing syndrome [RCV003362834] Chr16:23623070 [GRCh38]
Chr16:23634391 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.1629G>C (p.Lys543Asn) single nucleotide variant Familial cancer of breast [RCV001858167]|Hereditary cancer-predisposing syndrome [RCV000566796] Chr16:23634917 [GRCh38]
Chr16:23646238 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.90G>A (p.Lys30=) single nucleotide variant Familial cancer of breast [RCV001444109]|Hereditary cancer-predisposing syndrome [RCV000566824]|not provided [RCV003478215] Chr16:23638088 [GRCh38]
Chr16:23649409 [GRCh37]
Chr16:16p12.2		 benign|likely benign|uncertain significance
NM_024675.4(PALB2):c.1565del (p.Pro522fs) deletion Familial cancer of breast [RCV000529207]|Hereditary cancer-predisposing syndrome [RCV003380605]|Malignant tumor of breast [RCV002231716] Chr16:23634981 [GRCh38]
Chr16:23646302 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic
NM_024675.4(PALB2):c.3217G>T (p.Val1073Phe) single nucleotide variant Familial cancer of breast [RCV000529311]|Familial cancer of breast [RCV002483394]|Hereditary cancer-predisposing syndrome [RCV001019294] Chr16:23607997 [GRCh38]
Chr16:23619318 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.636A>G (p.Pro212=) single nucleotide variant Familial cancer of breast [RCV001424874]|Hereditary cancer-predisposing syndrome [RCV000562362] Chr16:23635910 [GRCh38]
Chr16:23647231 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.3094A>G (p.Met1032Val) single nucleotide variant Familial cancer of breast [RCV001858156]|Hereditary cancer-predisposing syndrome [RCV000561174] Chr16:23621381 [GRCh38]
Chr16:23632702 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1576C>G (p.His526Asp) single nucleotide variant Familial cancer of breast [RCV000546388]|Hereditary cancer-predisposing syndrome [RCV000582966] Chr16:23634970 [GRCh38]
Chr16:23646291 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.232del (p.Val78fs) deletion Hereditary cancer-predisposing syndrome [RCV000562722] Chr16:23636314 [GRCh38]
Chr16:23647635 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.2503T>A (p.Ser835Thr) single nucleotide variant Familial cancer of breast [RCV001858209]|Hereditary cancer-predisposing syndrome [RCV000562867] Chr16:23629651 [GRCh38]
Chr16:23640972 [GRCh37]
Chr16:16p12.2		 likely benign|uncertain significance
NM_024675.4(PALB2):c.1286T>C (p.Ile429Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000562896] Chr16:23635260 [GRCh38]
Chr16:23646581 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.3365A>T (p.Asp1122Val) single nucleotide variant not provided [RCV000520349] Chr16:23603655 [GRCh38]
Chr16:23614976 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.480A>G (p.Arg160=) single nucleotide variant Familial cancer of breast [RCV002060483]|Hereditary cancer-predisposing syndrome [RCV000563026] Chr16:23636066 [GRCh38]
Chr16:23647387 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.278G>A (p.Gly93Glu) single nucleotide variant Familial cancer of breast [RCV000811865]|Hereditary cancer-predisposing syndrome [RCV000567128]|not provided [RCV003148792] Chr16:23636268 [GRCh38]
Chr16:23647589 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2429C>T (p.Pro810Leu) single nucleotide variant Familial cancer of breast [RCV000529562]|Hereditary cancer-predisposing syndrome [RCV000773135] Chr16:23629725 [GRCh38]
Chr16:23641046 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2424A>G (p.Gly808=) single nucleotide variant Familial cancer of breast [RCV005422210]|Hereditary cancer-predisposing syndrome [RCV000565782] Chr16:23629730 [GRCh38]
Chr16:23641051 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.736A>T (p.Thr246Ser) single nucleotide variant Familial cancer of breast [RCV000699347]|Hereditary cancer-predisposing syndrome [RCV000567314]|not provided [RCV001775886] Chr16:23635810 [GRCh38]
Chr16:23647131 [GRCh37]
Chr16:16p12.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.1266del (p.Lys422_Val423insTer) deletion Familial cancer of breast [RCV001220630]|Hereditary cancer-predisposing syndrome [RCV000567486]|PALB2-related disorder [RCV004545787]|not provided [RCV000657828] Chr16:23635280 [GRCh38]
Chr16:23646601 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic|not provided
NM_024675.4(PALB2):c.48+1G>A single nucleotide variant Familial cancer of breast [RCV000635645]|Hereditary cancer-predisposing syndrome [RCV000561202]|not provided [RCV000708619] Chr16:23641109 [GRCh38]
Chr16:23652430 [GRCh37]
Chr16:16p12.2		 likely pathogenic
NM_024675.4(PALB2):c.2632G>T (p.Glu878Ter) single nucleotide variant Familial cancer of breast [RCV000635833]|Hereditary cancer-predisposing syndrome [RCV000561696]|not provided [RCV001030334] Chr16:23626352 [GRCh38]
Chr16:23637673 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.1783G>A (p.Asp595Asn) single nucleotide variant Familial cancer of breast [RCV000804639]|Hereditary cancer-predisposing syndrome [RCV000561858] Chr16:23630371 [GRCh38]
Chr16:23641692 [GRCh37]
Chr16:16p12.2		 likely benign|uncertain significance
NM_024675.4(PALB2):c.1398T>G (p.Ser466=) single nucleotide variant Familial cancer of breast [RCV000537302]|Fanconi anemia complementation group N [RCV005398792]|Hereditary cancer-predisposing syndrome [RCV000573842]|PALB2-related disorder [RCV004541673]|not provided [RCV000611260] Chr16:23635148 [GRCh38]
Chr16:23646469 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.2896A>T (p.Ile966Leu) single nucleotide variant Familial cancer of breast [RCV000525305] Chr16:23623069 [GRCh38]
Chr16:23634390 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.995T>C (p.Leu332Pro) single nucleotide variant Familial cancer of breast [RCV000554766]|Hereditary cancer-predisposing syndrome [RCV000561598]|not provided [RCV001800746] Chr16:23635551 [GRCh38]
Chr16:23646872 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2202T>G (p.Thr734=) single nucleotide variant Familial cancer of breast [RCV003500566]|Hereditary cancer-predisposing syndrome [RCV000567529] Chr16:23629952 [GRCh38]
Chr16:23641273 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.193C>G (p.Pro65Ala) single nucleotide variant Familial cancer of breast [RCV000704290]|Hereditary cancer-predisposing syndrome [RCV000564430] Chr16:23637868 [GRCh38]
Chr16:23649189 [GRCh37]
Chr16:16p12.2		 likely benign|uncertain significance
NM_024675.4(PALB2):c.1634A>G (p.Glu545Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000561877] Chr16:23634912 [GRCh38]
Chr16:23646233 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1066A>G (p.Lys356Glu) single nucleotide variant Familial cancer of breast [RCV000544610]|Familial pancreatic carcinoma [RCV005357564]|Hereditary cancer-predisposing syndrome [RCV000575442]|not provided [RCV001538610]|not specified [RCV001174761] Chr16:23635480 [GRCh38]
Chr16:23646801 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2156C>G (p.Pro719Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000567922] Chr16:23629998 [GRCh38]
Chr16:23641319 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.18G>A (p.Gly6=) single nucleotide variant Familial cancer of breast [RCV000544942]|Familial cancer of breast [RCV002497105]|Hereditary cancer-predisposing syndrome [RCV000575984] Chr16:23641140 [GRCh38]
Chr16:23652461 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.371C>T (p.Thr124Ile) single nucleotide variant Familial cancer of breast [RCV000693977]|Hereditary cancer-predisposing syndrome [RCV000562435]|not provided [RCV003235296]|not specified [RCV004689798] Chr16:23636175 [GRCh38]
Chr16:23647496 [GRCh37]
Chr16:16p12.2		 likely benign|uncertain significance
NM_024675.4(PALB2):c.1870C>T (p.Leu624Phe) single nucleotide variant Familial cancer of breast [RCV000804871]|Hereditary cancer-predisposing syndrome [RCV000568032] Chr16:23630284 [GRCh38]
Chr16:23641605 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2418G>T (p.Pro806=) single nucleotide variant Familial cancer of breast [RCV001030306]|Hereditary cancer-predisposing syndrome [RCV000774630]|PALB2-related disorder [RCV004537940]|not provided [RCV001800743]|not specified [RCV000612786] Chr16:23629736 [GRCh38]
Chr16:23641057 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.1111G>A (p.Glu371Lys) single nucleotide variant Familial cancer of breast [RCV000635715]|Hereditary cancer-predisposing syndrome [RCV000566028] Chr16:23635435 [GRCh38]
Chr16:23646756 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.985_986del (p.Leu329fs) microsatellite Familial cancer of breast [RCV000553727] Chr16:23635560..23635561 [GRCh38]
Chr16:23646881..23646882 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.3324C>G (p.Tyr1108Ter) single nucleotide variant Familial cancer of breast [RCV000550532]|Hereditary cancer-predisposing syndrome [RCV001019991]|not provided [RCV004592566] Chr16:23607890 [GRCh38]
Chr16:23619211 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic
NM_024675.4(PALB2):c.3394T>C (p.Leu1132=) single nucleotide variant Familial cancer of breast [RCV000528385]|Fanconi anemia complementation group N [RCV001121623]|Hereditary cancer-predisposing syndrome [RCV001020184]|not provided [RCV001796099]|not specified [RCV000602592] Chr16:23603626 [GRCh38]
Chr16:23614947 [GRCh37]
Chr16:16p12.2		 benign|likely benign|uncertain significance
NM_024675.4(PALB2):c.3351-4T>C single nucleotide variant Familial cancer of breast [RCV000550872]|Hereditary cancer-predisposing syndrome [RCV002323943] Chr16:23603673 [GRCh38]
Chr16:23614994 [GRCh37]
Chr16:16p12.2		 likely benign|uncertain significance
NM_024675.4(PALB2):c.1785T>C (p.Asp595=) single nucleotide variant Familial cancer of breast [RCV000526181]|Hereditary cancer-predisposing syndrome [RCV001013175]|PALB2-related disorder [RCV004537939]|not specified [RCV005239159] Chr16:23630369 [GRCh38]
Chr16:23641690 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.3246dup (p.Glu1083Ter) duplication Hereditary cancer-predisposing syndrome [RCV000564873] Chr16:23607967..23607968 [GRCh38]
Chr16:23619288..23619289 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.2613T>A (p.Asp871Glu) single nucleotide variant Familial cancer of breast [RCV003607308]|Hereditary cancer-predisposing syndrome [RCV000566434]|not specified [RCV005231083] Chr16:23626371 [GRCh38]
Chr16:23637692 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.3447C>G (p.Ala1149=) single nucleotide variant Familial cancer of breast [RCV001477692]|Hereditary cancer-predisposing syndrome [RCV001020323] Chr16:23603573 [GRCh38]
Chr16:23614894 [GRCh37]
Chr16:16p12.2		 likely benign
NM_024675.4(PALB2):c.2402A>G (p.Asp801Gly) single nucleotide variant Familial cancer of breast [RCV001306017]|Hereditary cancer-predisposing syndrome [RCV000563156] Chr16:23629752 [GRCh38]
Chr16:23641073 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1710G>A (p.Glu570=) single nucleotide variant Familial cancer of breast [RCV005091350]|Hereditary cancer-predisposing syndrome [RCV000566692] Chr16:23630444 [GRCh38]
Chr16:23641765 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.971A>C (p.Asn324Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000580230] Chr16:23635575 [GRCh38]
Chr16:23646896 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.305T>C (p.Val102Ala) single nucleotide variant Familial cancer of breast [RCV000551090]|Hereditary cancer-predisposing syndrome [RCV000575360]|not provided [RCV001030141] Chr16:23636241 [GRCh38]
Chr16:23647562 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2834+4T>C single nucleotide variant Familial cancer of breast [RCV000815391]|Hereditary cancer-predisposing syndrome [RCV000563717] Chr16:23624005 [GRCh38]
Chr16:23635326 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.1221_1222delinsTC (p.Glu407_Tyr408delinsAspHis) indel Hereditary cancer-predisposing syndrome [RCV000580322] Chr16:23635324..23635325 [GRCh38]
Chr16:23646645..23646646 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2125A>T (p.Asn709Tyr) single nucleotide variant Familial cancer of breast [RCV001213447]|Hereditary cancer-predisposing syndrome [RCV000580326] Chr16:23630029 [GRCh38]
Chr16:23641350 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2305_2334del (p.Leu769_Ser778del) deletion Familial cancer of breast [RCV000663202]|Hereditary cancer-predisposing syndrome [RCV000580403] Chr16:23629820..23629849 [GRCh38]
Chr16:23641141..23641170 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2431C>T (p.Pro811Ser) single nucleotide variant Familial cancer of breast [RCV000800440]|Hereditary cancer-predisposing syndrome [RCV000580524] Chr16:23629723 [GRCh38]
Chr16:23641044 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.3165C>G (p.Tyr1055Ter) single nucleotide variant Familial cancer of breast [RCV003451225]|Hereditary cancer-predisposing syndrome [RCV000565155] Chr16:23614040 [GRCh38]
Chr16:23625361 [GRCh37]
Chr16:16p12.2		 pathogenic
NC_000016.9:g.(?_23619179)_(23625418_?)dup duplication Familial cancer of breast [RCV000552382] Chr16:23607858..23614097 [GRCh38]
Chr16:23619179..23625418 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2002del (p.Met668fs) deletion Hereditary cancer-predisposing syndrome [RCV000567395] Chr16:23630152 [GRCh38]
Chr16:23641473 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.2218C>T (p.Gln740Ter) single nucleotide variant Familial cancer of breast [RCV000989559]|Hereditary breast ovarian cancer syndrome [RCV000587693]|Hereditary cancer-predisposing syndrome [RCV000567438]|not provided [RCV003318598] Chr16:23629936 [GRCh38]
Chr16:23641257 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic
NM_024675.4(PALB2):c.2706T>C (p.Asp902=) single nucleotide variant Familial cancer of breast [RCV000526823] Chr16:23626278 [GRCh38]
Chr16:23637599 [GRCh37]
Chr16:16p12.2		 likely benign
NM_024675.4(PALB2):c.635del (p.Pro212fs) deletion Familial cancer of breast [RCV000547909] Chr16:23635911 [GRCh38]
Chr16:23647232 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.2017G>A (p.Glu673Lys) single nucleotide variant Familial cancer of breast [RCV000540647]|Hereditary cancer-predisposing syndrome [RCV000569513] Chr16:23630137 [GRCh38]
Chr16:23641458 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.704C>T (p.Thr235Ile) single nucleotide variant Familial cancer of breast [RCV000542532]|Hereditary cancer-predisposing syndrome [RCV000777204] Chr16:23635842 [GRCh38]
Chr16:23647163 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.854C>G (p.Ser285Ter) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000561198] Chr16:23635692 [GRCh38]
Chr16:23647013 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.968C>T (p.Ala323Val) single nucleotide variant Familial cancer of breast [RCV000635863]|Familial cancer of breast [RCV002476232]|Hereditary cancer-predisposing syndrome [RCV000564210]|not provided [RCV001800781]|not specified [RCV004586802] Chr16:23635578 [GRCh38]
Chr16:23646899 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1873del (p.Glu625fs) deletion Familial cancer of breast [RCV001858213]|Hereditary cancer-predisposing syndrome [RCV000564651] Chr16:23630281 [GRCh38]
Chr16:23641602 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.2979G>A (p.Thr993=) single nucleotide variant Familial cancer of breast [RCV001489604]|Hereditary cancer-predisposing syndrome [RCV000564683] Chr16:23622986 [GRCh38]
Chr16:23634307 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.1653T>A (p.Tyr551Ter) single nucleotide variant Breast-ovarian cancer, familial, susceptibility to, 5 [RCV005053882]|Familial cancer of breast [RCV000476387]|Fanconi anemia complementation group N [RCV000001302]|Hereditary cancer-predisposing syndrome [RCV000217204]|not provided [RCV000235772] Chr16:23634893 [GRCh38]
Chr16:23646214 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic|risk factor
NM_024675.4(PALB2):c.3549C>G (p.Tyr1183Ter) single nucleotide variant Breast-ovarian cancer, familial, susceptibility to, 5 [RCV005053883]|Familial cancer of breast [RCV000114634]|Fanconi anemia complementation group N [RCV000001304]|Hereditary cancer-predisposing syndrome [RCV000129158]|Inherited breast cancer and ovarian cancer [RCV005430457]|PALB2-related disorder [RCV004528063]|Pancreatic cancer, susceptibility to, 3 [RCV001355428]|not provided [RCV000212830]|not specified [RCV000121742] Chr16:23603471 [GRCh38]
Chr16:23614792 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic|risk factor|conflicting interpretations of pathogenicity|not provided
NM_024675.4(PALB2):c.2962C>T (p.Gln988Ter) single nucleotide variant Breast-ovarian cancer, familial, susceptibility to, 5 [RCV005053884]|Familial cancer of breast [RCV000662710]|Fanconi anemia complementation group N [RCV000001306]|Hereditary cancer-predisposing syndrome [RCV000129469]|not provided [RCV000657596] Chr16:23623003 [GRCh38]
Chr16:23634324 [GRCh37]
Chr16:16p12.2		 pathogenic|risk factor
NM_024675.4(PALB2):c.*232G>T single nucleotide variant Familial cancer of breast [RCV001030426]|Fanconi anemia complementation group N [RCV001121620] Chr16:23603227 [GRCh38]
Chr16:23614548 [GRCh37]
Chr16:16p12.2		 likely benign|uncertain significance
NC_000016.10:g.23603112T>G single nucleotide variant Familial cancer of breast [RCV001030427] Chr16:23603112 [GRCh38]
Chr16:23614433 [GRCh37]
Chr16:16p12.2		 likely benign
NM_024675.4(PALB2):c.-104C>T single nucleotide variant Familial cancer of breast [RCV001030096] Chr16:23641261 [GRCh38]
Chr16:23652582 [GRCh37]
Chr16:16p12.2		 likely benign
NM_024675.4(PALB2):c.-145G>C single nucleotide variant Familial cancer of breast [RCV001030095] Chr16:23641302 [GRCh38]
Chr16:23652623 [GRCh37]
Chr16:16p12.2		 likely benign
NC_000016.10:g.23641315C>G single nucleotide variant Familial cancer of breast [RCV001030094]|Fanconi anemia complementation group N [RCV000282144]|Hereditary cancer-predisposing syndrome [RCV000374410]|not provided [RCV000829438] Chr16:23641315 [GRCh38]
Chr16:23652636 [GRCh37]
Chr16:16p12.2		 benign|likely benign|uncertain significance
NC_000016.10:g.23641351G>C single nucleotide variant Familial cancer of breast [RCV001030093] Chr16:23641351 [GRCh38]
Chr16:23652672 [GRCh37]
Chr16:16p12.2		 likely benign
NC_000016.10:g.23641384A>C single nucleotide variant Familial cancer of breast [RCV001030091] Chr16:23641384 [GRCh38]
Chr16:23652705 [GRCh37]
Chr16:16p12.2		 likely benign
NM_024675.3(PALB2):c.-200-?_3113+?del deletion Fanconi anemia, complementation group N [RCV000114442]   pathogenic|uncertain significance
NM_024675.4(PALB2):c.-25C>A single nucleotide variant Familial cancer of breast [RCV001030100] Chr16:23641182 [GRCh38]
Chr16:23652503 [GRCh37]
Chr16:16p12.2		 likely benign
NC_000016.10:g.23641516C>G single nucleotide variant Familial cancer of breast [RCV001030090] Chr16:23641516 [GRCh38]
Chr16:23652837 [GRCh37]
Chr16:16p12.2		 benign
NM_024675.4(PALB2):c.-46G>A single nucleotide variant Familial cancer of breast [RCV001030099] Chr16:23641203 [GRCh38]
Chr16:23652524 [GRCh37]
Chr16:16p12.2		 likely benign
NM_024675.4(PALB2):c.-47G>A single nucleotide variant Familial cancer of breast [RCV001030098]|Fanconi anemia complementation group N [RCV000322920]|Hereditary breast ovarian cancer syndrome [RCV002225293]|Hereditary cancer-predisposing syndrome [RCV000379880]|not provided [RCV001689640]|not specified [RCV000248074] Chr16:23641204 [GRCh38]
Chr16:23652525 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.-98C>A single nucleotide variant Familial cancer of breast [RCV001030097] Chr16:23641255 [GRCh38]
Chr16:23652576 [GRCh37]
Chr16:16p12.2		 likely benign
NM_024675.4(PALB2):c.1000T>G (p.Tyr334Asp) single nucleotide variant Familial cancer of breast [RCV001087026]|Fanconi anemia complementation group N [RCV000402501]|Hereditary cancer-predisposing syndrome [RCV000165476]|not provided [RCV000483117]|not specified [RCV004595925] Chr16:23635546 [GRCh38]
Chr16:23646867 [GRCh37]
Chr16:16p12.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.1001A>G (p.Tyr334Cys) single nucleotide variant Breast and/or ovarian cancer [RCV001798290]|Breast-ovarian cancer, familial, susceptibility to, 5 [RCV005359039]|Familial cancer of breast [RCV000114449]|Hereditary breast ovarian cancer syndrome [RCV003483471]|Hereditary cancer [RCV000415191]|Hereditary cancer-predisposing syndrome [RCV000116060]|PALB2-related disorder [RCV004529916]|not provided [RCV000212784]|not specified [RCV000781695] Chr16:23635545 [GRCh38]
Chr16:23646866 [GRCh37]
Chr16:16p12.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
NM_024675.4(PALB2):c.1010T>C (p.Leu337Ser) single nucleotide variant Breast and/or ovarian cancer [RCV001798291]|Familial cancer of breast [RCV000114450]|Fanconi anemia complementation group N [RCV001116860]|Hereditary cancer-predisposing syndrome [RCV000127306]|Malignant tumor of breast [RCV001354445]|not provided [RCV000755592]|not specified [RCV000121752] Chr16:23635536 [GRCh38]
Chr16:23646857 [GRCh37]
Chr16:16p12.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters|not provided
NM_024675.4(PALB2):c.1027C>T (p.Gln343Ter) single nucleotide variant Breast-ovarian cancer, familial, susceptibility to, 5 [RCV005053906]|Familial cancer of breast [RCV001040014]|Hereditary breast ovarian cancer syndrome [RCV003155912]|Hereditary cancer-predisposing syndrome [RCV000215551]|not provided [RCV001030193] Chr16:23635519 [GRCh38]
Chr16:23646840 [GRCh37]
Chr16:16p12.2		 pathogenic|risk factor
NM_024675.4(PALB2):c.1038A>G (p.Lys346=) single nucleotide variant Familial cancer of breast [RCV001030195]|Hereditary cancer-predisposing syndrome [RCV000564445] Chr16:23635508 [GRCh38]
Chr16:23646829 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NC_000016.10:g.23635495_23635496delinsAGA indel Familial cancer of breast [RCV001030197] Chr16:23635495..23635496 [GRCh38]
Chr16:23646816..23646817 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.1050_1053del (p.Thr351fs) deletion Familial cancer of breast [RCV000470398]|Familial cancer of breast [RCV002477267]|Hereditary cancer-predisposing syndrome [RCV000129806]|Malignant tumor of breast [RCV001260315]|not provided [RCV000483096] Chr16:23635493..23635496 [GRCh38]
Chr16:23646814..23646817 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.1056_1057del (p.Lys353fs) microsatellite Familial cancer of breast [RCV000114457]|Hereditary cancer-predisposing syndrome [RCV000165605]|Lynch syndrome 1 [RCV003485539]|not provided [RCV003162527] Chr16:23635489..23635490 [GRCh38]
Chr16:23646810..23646811 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.108+59C>G single nucleotide variant Familial cancer of breast [RCV001030119] Chr16:23638011 [GRCh38]
Chr16:23649332 [GRCh37]
Chr16:16p12.2		 likely benign
NM_024675.4(PALB2):c.1095G>C (p.Arg365Ser) single nucleotide variant Familial cancer of breast [RCV001030199] Chr16:23635451 [GRCh38]
Chr16:23646772 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.110G>A (p.Arg37His) single nucleotide variant Familial cancer of breast [RCV000114460]|Familial cancer of breast [RCV002483177]|Hereditary cancer-predisposing syndrome [RCV000116061]|PALB2-related disorder [RCV004739369]|not provided [RCV000212768]|not specified [RCV000780571] Chr16:23637951 [GRCh38]
Chr16:23649272 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.1145G>T (p.Ser382Ile) single nucleotide variant Familial cancer of breast [RCV000114461]|Familial cancer of breast [RCV002483178]|Hereditary cancer-predisposing syndrome [RCV000567033]|not provided [RCV000483203] Chr16:23635401 [GRCh38]
Chr16:23646722 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.1194G>A (p.Val398=) single nucleotide variant Breast and/or ovarian cancer [RCV001170350]|Breast-ovarian cancer, familial, susceptibility to, 5 [RCV005234992]|Familial cancer of breast [RCV000114462]|Fanconi anemia complementation group N [RCV000327932]|Hereditary cancer-predisposing syndrome [RCV000127307]|Malignant tumor of breast [RCV001357080]|not provided [RCV000588666]|not specified [RCV000212786] Chr16:23635352 [GRCh38]
Chr16:23646673 [GRCh37]
Chr16:16p12.2		 benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_024675.4(PALB2):c.11C>T (p.Pro4Leu) single nucleotide variant Breast and/or ovarian cancer [RCV001798292]|Familial cancer of breast [RCV000114464]|Familial cancer of breast [RCV000515208]|Hereditary cancer-predisposing syndrome [RCV000116063]|Malignant tumor of breast [RCV001358373]|PALB2-related disorder [RCV004739370]|not provided [RCV000590674]|not specified [RCV001797625] Chr16:23641147 [GRCh38]
Chr16:23652468 [GRCh37]
Chr16:16p12.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.1222T>C (p.Tyr408His) single nucleotide variant Familial cancer of breast [RCV000802122]|Hereditary cancer-predisposing syndrome [RCV003362687]|Pancreatic cancer, susceptibility to, 3 [RCV001030206]|not provided [RCV001355987] Chr16:23635324 [GRCh38]
Chr16:23646645 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1250C>A (p.Ser417Tyr) single nucleotide variant Familial cancer of breast [RCV000114466]|Fanconi anemia complementation group N [RCV005394371]|Hereditary breast ovarian cancer syndrome [RCV003483472]|Hereditary cancer-predisposing syndrome [RCV000116065]|PALB2-related disorder [RCV004739371]|not provided [RCV000590540]|not specified [RCV001255214] Chr16:23635296 [GRCh38]
Chr16:23646617 [GRCh37]
Chr16:16p12.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.1314del (p.Phe440fs) deletion Familial cancer of breast [RCV003453033]|not provided [RCV001030215] Chr16:23635232 [GRCh38]
Chr16:23646553 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.1317G>A (p.Gly439=) single nucleotide variant Familial cancer of breast [RCV001030216]|Hereditary cancer-predisposing syndrome [RCV002381413] Chr16:23635229 [GRCh38]
Chr16:23646550 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.1317del (p.Phe440fs) deletion Familial cancer of breast [RCV000114470]|Hereditary breast ovarian cancer syndrome [RCV001193417]|Hereditary cancer-predisposing syndrome [RCV000129522]|PALB2-related cancer predisposition [RCV005364989]|not provided [RCV000212789] Chr16:23635229 [GRCh38]
Chr16:23646550 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.1380A>G (p.Gln460=) single nucleotide variant Familial cancer of breast [RCV001030220]|Hereditary cancer-predisposing syndrome [RCV001011264]|not specified [RCV005406824] Chr16:23635166 [GRCh38]
Chr16:23646487 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.13C>T (p.Pro5Ser) single nucleotide variant Breast-ovarian cancer, familial, susceptibility to, 5 [RCV005359040]|Familial cancer of breast [RCV000114472]|Hereditary cancer-predisposing syndrome [RCV000116068]|PALB2-related disorder [RCV004739372]|not provided [RCV000589509]|not specified [RCV001818256] Chr16:23641145 [GRCh38]
Chr16:23652466 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.1419A>C (p.Pro473=) single nucleotide variant Breast and/or ovarian cancer [RCV003492438]|Breast-ovarian cancer, familial, susceptibility to, 5 [RCV003315610]|Familial cancer of breast [RCV000114473]|Hereditary breast ovarian cancer syndrome [RCV002225294]|Hereditary cancer-predisposing syndrome [RCV000127309]|Malignant tumor of breast [RCV001358133]|not provided [RCV000585974]|not specified [RCV000212794] Chr16:23635127 [GRCh38]
Chr16:23646448 [GRCh37]
Chr16:16p12.2		 benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_024675.4(PALB2):c.1431C>T (p.Thr477=) single nucleotide variant Familial cancer of breast [RCV000114474]|Hereditary cancer-predisposing syndrome [RCV000454223]|PALB2-related disorder [RCV004542812]|not provided [RCV000859071]|not specified [RCV000599737] Chr16:23635115 [GRCh38]
Chr16:23646436 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.1461C>T (p.Val487=) single nucleotide variant Familial cancer of breast [RCV001030230]|Hereditary cancer-predisposing syndrome [RCV003162528] Chr16:23635085 [GRCh38]
Chr16:23646406 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.1470C>T (p.Pro490=) single nucleotide variant Breast and/or ovarian cancer [RCV001798293]|Breast-ovarian cancer, familial, susceptibility to, 5 [RCV005234993]|Familial cancer of breast [RCV000114476]|Familial cancer of breast [RCV002490762]|Fanconi anemia complementation group N [RCV000276625]|Hereditary cancer-predisposing syndrome [RCV000127310]|not provided [RCV000586468]|not specified [RCV000212795] Chr16:23635076 [GRCh38]
Chr16:23646397 [GRCh37]
Chr16:16p12.2		 benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_024675.4(PALB2):c.1475G>T (p.Gly492Val) single nucleotide variant Familial cancer of breast [RCV001030233] Chr16:23635071 [GRCh38]
Chr16:23646392 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1479del (p.Thr494fs) deletion Familial cancer of breast [RCV000114478]|Hereditary breast ovarian cancer syndrome [RCV001193415]|Hereditary cancer-predisposing syndrome [RCV000129889]|not provided [RCV000483204] Chr16:23635067 [GRCh38]
Chr16:23646388 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.1544A>G (p.Lys515Arg) single nucleotide variant Breast and/or ovarian cancer [RCV003149776]|Familial cancer of breast [RCV000114479]|Familial ovarian cancer [RCV001355376]|Hereditary cancer [RCV004700413]|Hereditary cancer-predisposing syndrome [RCV000129175]|PALB2-related disorder [RCV004528789]|not provided [RCV000586359]|not specified [RCV000235723] Chr16:23635002 [GRCh38]
Chr16:23646323 [GRCh37]
Chr16:16p12.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.1572A>G (p.Ser524=) single nucleotide variant Breast and/or ovarian cancer [RCV001798294]|Breast-ovarian cancer, familial, susceptibility to, 5 [RCV005234994]|Familial cancer of breast [RCV000114480]|Fanconi anemia complementation group N [RCV000261837]|Hereditary cancer-predisposing syndrome [RCV000127311]|Malignant tumor of breast [RCV001357887]|not provided [RCV000488265]|not specified [RCV000212796] Chr16:23634974 [GRCh38]
Chr16:23646295 [GRCh37]
Chr16:16p12.2		 benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_024675.4(PALB2):c.1592del (p.Leu531fs) deletion Breast-ovarian cancer, familial, susceptibility to, 5 [RCV005053907]|Familial cancer of breast [RCV000114482]|Familial pancreatic carcinoma [RCV005364990]|Hereditary breast ovarian cancer syndrome [RCV003155913]|Hereditary cancer-predisposing syndrome [RCV000132474]|not provided [RCV000212797] Chr16:23634954 [GRCh38]
Chr16:23646275 [GRCh37]
Chr16:16p12.2		 pathogenic|risk factor
NM_024675.4(PALB2):c.1606C>T (p.Leu536=) single nucleotide variant Breast and/or ovarian cancer [RCV003492439]|Familial cancer of breast [RCV001030239]|Familial cancer of breast [RCV002498478]|Hereditary cancer-predisposing syndrome [RCV000127312]|Malignant tumor of breast [RCV001355529]|not provided [RCV000587743]|not specified [RCV000212798] Chr16:23634940 [GRCh38]
Chr16:23646261 [GRCh37]
Chr16:16p12.2		 benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_024675.4(PALB2):c.1633G>T (p.Glu545Ter) single nucleotide variant Familial cancer of breast [RCV000114484]|Gastric cancer [RCV003162529]|Hereditary cancer-predisposing syndrome [RCV000131237]|Malignant tumor of breast [RCV001357967]|PALB2-related disorder [RCV004529917]|not provided [RCV000255843] Chr16:23634913 [GRCh38]
Chr16:23646234 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.1656G>A (p.Gln552=) single nucleotide variant Familial cancer of breast [RCV001030243]|Hereditary cancer-predisposing syndrome [RCV002399478] Chr16:23634890 [GRCh38]
Chr16:23646211 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.1676A>G (p.Gln559Arg) single nucleotide variant Breast-ovarian cancer, familial, susceptibility to, 5 [RCV003315611]|Familial cancer of breast [RCV000114486]|Familial cancer of breast [RCV002498479]|Fanconi anemia complementation group N [RCV000395533]|Fanconi anemia complementation group N [RCV005394372]|Hereditary breast ovarian cancer syndrome [RCV002225295]|Hereditary cancer-predisposing syndrome [RCV000128962]|not provided [RCV000755593]|not specified [RCV000121747] Chr16:23634870 [GRCh38]
Chr16:23646191 [GRCh37]
Chr16:16p12.2		 benign|likely benign|conflicting interpretations of pathogenicity|not provided
NM_024675.4(PALB2):c.1676_1677delinsG (p.Gln559fs) indel Familial cancer of breast [RCV001310143]|Fanconi anemia complementation group N [RCV001030245]|Hereditary breast ovarian cancer syndrome [RCV005359041]|Hereditary cancer-predisposing syndrome [RCV000572212]|not provided [RCV000478479] Chr16:23634869..23634870 [GRCh38]
Chr16:23646190..23646191 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.1684+1597T>C single nucleotide variant Familial cancer of breast [RCV001030250] Chr16:23633265 [GRCh38]
Chr16:23644586 [GRCh37]
Chr16:16p12.2		 benign
NM_024675.4(PALB2):c.1684+29A>G single nucleotide variant Breast-ovarian cancer, familial, susceptibility to, 5 [RCV003315612]|Familial cancer of breast [RCV001030246]|Hereditary breast ovarian cancer syndrome [RCV002225296]|Hereditary cancer-predisposing syndrome [RCV000210759]|not provided [RCV001668224]|not specified [RCV000248381] Chr16:23634833 [GRCh38]
Chr16:23646154 [GRCh37]
Chr16:16p12.2		 benign
NM_024675.4(PALB2):c.1684+18TGA[7] microsatellite Familial cancer of breast [RCV001030247]|not specified [RCV003321504] Chr16:23634821..23634823 [GRCh38]
Chr16:23646142..23646144 [GRCh37]
Chr16:16p12.2		 likely benign
NM_024675.4(PALB2):c.1684+18TGA[9] microsatellite Breast and/or ovarian cancer [RCV003149777]|Familial cancer of breast [RCV001030248]|Hereditary breast ovarian cancer syndrome [RCV002225297]|not provided [RCV001529629]|not specified [RCV002267851] Chr16:23634820..23634821 [GRCh38]
Chr16:23646141..23646142 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.1684+42_1684+43insATG insertion Familial cancer of breast [RCV001030249] Chr16:23634819..23634820 [GRCh38]
Chr16:23646140..23646141 [GRCh37]
Chr16:16p12.2		 likely benign
NM_024675.4(PALB2):c.1685-58C>A single nucleotide variant Familial cancer of breast [RCV001030252] Chr16:23630527 [GRCh38]
Chr16:23641848 [GRCh37]
Chr16:16p12.2		 likely benign
NM_024675.4(PALB2):c.1685-70T>G single nucleotide variant Familial cancer of breast [RCV001030251] Chr16:23630539 [GRCh38]
Chr16:23641860 [GRCh37]
Chr16:16p12.2		 likely benign
NM_024675.4(PALB2):c.1699C>T (p.His567Tyr) single nucleotide variant Breast-ovarian cancer, familial, susceptibility to, 5 [RCV005359042]|Familial cancer of breast [RCV000114495]|Fanconi anemia complementation group N [RCV001292820]|Hereditary cancer-predisposing syndrome [RCV000116072]|PALB2-related disorder [RCV004529918]|not provided [RCV000588850]|not specified [RCV001171429] Chr16:23630455 [GRCh38]
Chr16:23641776 [GRCh37]
Chr16:16p12.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.172_175del (p.Gln60fs) microsatellite Breast and/or ovarian cancer [RCV001270993]|Breast-ovarian cancer, familial, susceptibility to, 5 [RCV004764849]|Colorectal cancer [RCV001543616]|Familial cancer of breast [RCV000114496]|Familial cancer of breast [RCV002490763]|Fanconi anemia complementation group N [RCV001781441]|Fanconi anemia complementation group N [RCV005394373]|Hereditary breast ovarian cancer syndrome [RCV001193414]|Hereditary cancer-predisposing syndrome [RCV000116073]|PALB2-related disorder [RCV004739373]|Pancreatic cancer, susceptibility to, 3 [RCV000114497]|not provided [RCV000212770] Chr16:23637886..23637889 [GRCh38]
Chr16:23649207..23649210 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic|risk factor|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
NM_024675.4(PALB2):c.1743A>G (p.Leu581=) single nucleotide variant Breast and/or ovarian cancer [RCV003492440]|Familial cancer of breast [RCV001030257]|Hereditary cancer-predisposing syndrome [RCV000220391]|PALB2-related disorder [RCV004529919]|not provided [RCV000829294]|not specified [RCV005229897] Chr16:23630411 [GRCh38]
Chr16:23641732 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.1810C>T (p.Leu604=) single nucleotide variant Breast and/or ovarian cancer [RCV001798295]|Familial cancer of breast [RCV001030261]|Familial ovarian cancer [RCV001355308]|Hereditary breast ovarian cancer syndrome [RCV002225298]|Hereditary cancer-predisposing syndrome [RCV000160816]|not provided [RCV000679761]|not specified [RCV000212801] Chr16:23630344 [GRCh38]
Chr16:23641665 [GRCh37]
Chr16:16p12.2		 benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_024675.4(PALB2):c.1881G>T (p.Val627=) single nucleotide variant Breast and/or ovarian cancer [RCV003149778]|Carcinoma of colon [RCV001358083]|Endometrial carcinoma [RCV001356841]|Familial cancer of breast [RCV001030265]|Familial cancer of breast [RCV002483179]|Hereditary cancer-predisposing syndrome [RCV000127291]|not provided [RCV000590744]|not specified [RCV000212802] Chr16:23630273 [GRCh38]
Chr16:23641594 [GRCh37]
Chr16:16p12.2		 benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_024675.4(PALB2):c.1935G>A (p.Glu645=) single nucleotide variant Breast-ovarian cancer, familial, susceptibility to, 5 [RCV003315613]|Familial cancer of breast [RCV000114501]|Familial cancer of breast [RCV002505026]|Hereditary cancer-predisposing syndrome [RCV000167184]|PALB2-related disorder [RCV004542813]|not provided [RCV002477268]|not specified [RCV000427468] Chr16:23630219 [GRCh38]
Chr16:23641540 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.1947dup (p.Glu650fs) duplication Breast and/or ovarian cancer [RCV003149779]|Familial cancer of breast [RCV000114502]|Hereditary cancer-predisposing syndrome [RCV000584219] Chr16:23630206..23630207 [GRCh38]
Chr16:23641527..23641528 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_024675.4(PALB2):c.196C>T (p.Gln66Ter) single nucleotide variant Breast and/or ovarian cancer [RCV001798296]|Familial cancer of breast [RCV000114503]|Fanconi anemia complementation group N [RCV005016383]|Hereditary breast ovarian cancer syndrome [RCV000588616]|Hereditary cancer-predisposing syndrome [RCV000163078]|not provided [RCV000235795] Chr16:23637865 [GRCh38]
Chr16:23649186 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_024675.4(PALB2):c.2014G>C (p.Glu672Gln) single nucleotide variant Breast-ovarian cancer, familial, susceptibility to, 5 [RCV003315614]|Familial cancer of breast [RCV000114504]|Familial cancer of breast [RCV002498480]|Fanconi anemia complementation group N [RCV000395482]|Hereditary breast ovarian cancer syndrome [RCV002225299]|Hereditary cancer-predisposing syndrome [RCV000127292]|Malignant tumor of breast [RCV001269351]|Ovarian cancer [RCV003153363]|not provided [RCV000857375]|not specified [RCV000121756] Chr16:23630140 [GRCh38]
Chr16:23641461 [GRCh37]
Chr16:16p12.2		 benign|likely benign|conflicting interpretations of pathogenicity|not provided
NM_024675.4(PALB2):c.212-180T>G single nucleotide variant Familial cancer of breast [RCV001030127] Chr16:23636514 [GRCh38]
Chr16:23647835 [GRCh37]
Chr16:16p12.2		 likely benign
NM_024675.4(PALB2):c.212-25T>A single nucleotide variant Familial cancer of breast [RCV001030131] Chr16:23636359 [GRCh38]
Chr16:23647680 [GRCh37]
Chr16:16p12.2		 likely benign
NM_024675.4(PALB2):c.212-25_212-24insTA insertion Familial cancer of breast [RCV001030132] Chr16:23636358..23636359 [GRCh38]
Chr16:23647679..23647680 [GRCh37]
Chr16:16p12.2		 likely benign
NM_024675.4(PALB2):c.212-33A>C single nucleotide variant Familial cancer of breast [RCV001030130] Chr16:23636367 [GRCh38]
Chr16:23647688 [GRCh37]
Chr16:16p12.2		 benign|likely benign|uncertain significance
NM_024675.4(PALB2):c.212-58A>C single nucleotide variant Breast-ovarian cancer, familial, susceptibility to, 5 [RCV003315615]|Familial cancer of breast [RCV001030129]|Hereditary breast ovarian cancer syndrome [RCV002225300]|Hereditary cancer-predisposing syndrome [RCV000210760]|not provided [RCV000835943]|not specified [RCV001729387] Chr16:23636392 [GRCh38]
Chr16:23647713 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.212-70T>C single nucleotide variant Familial cancer of breast [RCV001030128] Chr16:23636404 [GRCh38]
Chr16:23636404..23636405 [GRCh38]
Chr16:23647725 [GRCh37]
Chr16:23647725..23647726 [GRCh37]
Chr16:16p12.2		 likely benign
NM_024675.4(PALB2):c.2135C>T (p.Ala712Val) single nucleotide variant Breast-ovarian cancer, familial, susceptibility to, 5 [RCV003315616]|Familial cancer of breast [RCV000114512]|Familial cancer of breast [RCV002477269]|Fanconi anemia complementation group N [RCV000405151]|Hereditary cancer-predisposing syndrome [RCV000116080]|Malignant tumor of breast [RCV001358176]|not provided [RCV000759185]|not specified [RCV000417394] Chr16:23630019 [GRCh38]
Chr16:23641340 [GRCh37]
Chr16:16p12.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
NM_024675.4(PALB2):c.2145_2146del (p.Asp715fs) deletion Familial cancer of breast [RCV001030283]|Hereditary cancer-predisposing syndrome [RCV002426653]|PALB2-related disorder [RCV004529920]|not provided [RCV003441741] Chr16:23630008..23630009 [GRCh38]
Chr16:23641329..23641330 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic
NM_024675.4(PALB2):c.2200A>T (p.Thr734Ser) single nucleotide variant Endometrial carcinoma [RCV001358251]|Familial cancer of breast [RCV000114515]|Hereditary cancer-predisposing syndrome [RCV000116081]|Malignant tumor of breast [RCV001356351]|not provided [RCV000586054]|not specified [RCV000855600] Chr16:23629954 [GRCh38]
Chr16:23641275 [GRCh37]
Chr16:16p12.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.2205A>G (p.Pro735=) single nucleotide variant Familial cancer of breast [RCV001030285]|Hereditary cancer-predisposing syndrome [RCV004019604] Chr16:23629949 [GRCh38]
Chr16:23641270 [GRCh37]
Chr16:16p12.2		 likely benign
NM_024675.4(PALB2):c.2256A>G (p.Gly752=) single nucleotide variant Breast-ovarian cancer, familial, susceptibility to, 5 [RCV005359043]|Familial cancer of breast [RCV001030291]|Hereditary cancer-predisposing syndrome [RCV000130422]|not provided [RCV000759187]|not specified [RCV000212806] Chr16:23629898 [GRCh38]
Chr16:23641219 [GRCh37]
Chr16:16p12.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
NM_024675.4(PALB2):c.2275C>A (p.Gln759Lys) single nucleotide variant Familial cancer of breast [RCV001030295] Chr16:23629879 [GRCh38]
Chr16:23641200 [GRCh37]
Chr16:16p12.2		 likely benign|uncertain significance
NM_024675.4(PALB2):c.229del (p.Cys77fs) deletion Breast and/or ovarian cancer [RCV001798297]|Colorectal cancer [RCV002267609]|Familial cancer of breast [RCV000114519]|Hereditary cancer-predisposing syndrome [RCV000772121]|PALB2-related cancer predisposition [RCV005359044]|not provided [RCV000236050] Chr16:23636317 [GRCh38]
Chr16:23647638 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.2301C>A (p.Val767=) single nucleotide variant Familial cancer of breast [RCV001030296]|Hereditary cancer-predisposing syndrome [RCV002444564] Chr16:23629853 [GRCh38]
Chr16:23641174 [GRCh37]
Chr16:16p12.2		 likely benign
NM_024675.4(PALB2):c.2323C>T (p.Gln775Ter) single nucleotide variant Breast-ovarian cancer, familial, susceptibility to, 5 [RCV005053908]|Familial cancer of breast [RCV000114521]|Hereditary breast ovarian cancer syndrome [RCV003155914]|Hereditary cancer-predisposing syndrome [RCV000164897]|Malignant tumor of breast [RCV001355683]|not provided [RCV000413982] Chr16:23629831 [GRCh38]
Chr16:23641152 [GRCh37]
Chr16:16p12.2		 pathogenic|risk factor
NM_024675.4(PALB2):c.232G>A (p.Val78Ile) single nucleotide variant Breast and/or ovarian cancer [RCV003149780]|Familial cancer of breast [RCV000114522]|Hereditary cancer-predisposing syndrome [RCV000116083]|Malignant tumor of breast [RCV001356931]|PALB2-related disorder [RCV004529921]|not provided [RCV000587015]|not specified [RCV000212771] Chr16:23636314 [GRCh38]
Chr16:23647635 [GRCh37]
Chr16:16p12.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.2365C>T (p.Leu789=) single nucleotide variant Breast and/or ovarian cancer [RCV001798298]|Familial cancer of breast [RCV001030300]|Hereditary cancer-predisposing syndrome [RCV000160817]|not provided [RCV000588448]|not specified [RCV000212810] Chr16:23629789 [GRCh38]
Chr16:23641110 [GRCh37]
Chr16:16p12.2		 benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_024675.4(PALB2):c.2386G>T (p.Gly796Ter) single nucleotide variant Familial cancer of breast [RCV000114524]|Fanconi anemia complementation group N [RCV001781442]|Fanconi anemia complementation group N [RCV003330435]|Hereditary cancer-predisposing syndrome [RCV000129116]|not provided [RCV000236024] Chr16:23629768 [GRCh38]
Chr16:23641089 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|not provided
NM_024675.3(PALB2):c.2390delA (p.Gln797Hisfs) deletion Familial cancer of breast [RCV000114525] Chr16:23629764 [GRCh38]
Chr16:23641085 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.2393_2394insCT (p.Thr799fs) insertion Fanconi anemia complementation group N [RCV001030304] Chr16:23629760..23629761 [GRCh38]
Chr16:23641081..23641082 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.23C>T (p.Pro8Leu) single nucleotide variant Breast-ovarian cancer, familial, susceptibility to, 5 [RCV005359045]|Familial cancer of breast [RCV000114527]|Hereditary breast ovarian cancer syndrome [RCV002225301]|Hereditary cancer-predisposing syndrome [RCV000160872]|PALB2-related disorder [RCV004529922]|not provided [RCV000589826] Chr16:23641135 [GRCh38]
Chr16:23652456 [GRCh37]
Chr16:16p12.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.2442G>A (p.Glu814=) single nucleotide variant Breast and/or ovarian cancer [RCV003492441]|Familial cancer of breast [RCV001030308]|Hereditary cancer-predisposing syndrome [RCV000160818]|Malignant tumor of breast [RCV001354891]|not provided [RCV000590716]|not specified [RCV000212812] Chr16:23629712 [GRCh38]
Chr16:23641033 [GRCh37]
Chr16:16p12.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
NM_024675.4(PALB2):c.2469C>A (p.Leu823=) single nucleotide variant Familial cancer of breast [RCV001030309] Chr16:23629685 [GRCh38]
Chr16:23641006 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.2514+3A>G single nucleotide variant Breast and/or ovarian cancer [RCV003149781]|Familial cancer of breast [RCV000114530]|Familial pancreatic carcinoma [RCV005359046]|Fanconi anemia complementation group N [RCV005016384]|Hereditary cancer-predisposing syndrome [RCV000573333]|not provided [RCV000160843] Chr16:23629637 [GRCh38]
Chr16:23640958 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.2514+71del deletion Familial cancer of breast [RCV001030315] Chr16:23629569 [GRCh38]
Chr16:23640890 [GRCh37]
Chr16:16p12.2		 likely benign
PALB2:c.2515-1G>T single nucleotide variant Familial cancer of breast [RCV001030317]|Familial cancer of breast [RCV001171466]|Hereditary cancer-predisposing syndrome [RCV002426654]|Pancreatic cancer, susceptibility to, 3 [RCV000001312]|not provided [RCV000133479] Chr16:23629276 [GRCh38]
Chr16:23640597 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic|risk factor
NM_024675.4(PALB2):c.2515-24A>G single nucleotide variant not provided [RCV001030316] Chr16:23629299 [GRCh38]
Chr16:23640620 [GRCh37]
Chr16:16p12.2		 likely benign
NM_024675.4(PALB2):c.2521del (p.Thr841fs) deletion Familial cancer of breast [RCV003500504]|not provided [RCV001030318] Chr16:23629269 [GRCh38]
Chr16:23640590 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.2559C>T (p.Gly853=) single nucleotide variant Familial cancer of breast [RCV000114536]|Familial cancer of breast [RCV001171467]|Hereditary cancer-predisposing syndrome [RCV000116088]|not provided [RCV000212813] Chr16:23629231 [GRCh38]
Chr16:23640552 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
NM_024675.4(PALB2):c.2586+10A>G single nucleotide variant Breast and/or ovarian cancer [RCV003149782]|Endometrial carcinoma [RCV001358400]|Familial cancer of breast [RCV000114537]|Fanconi anemia complementation group N [RCV001118200]|Hereditary cancer-predisposing syndrome [RCV000580770]|not provided [RCV000588544]|not specified [RCV000127295] Chr16:23629194 [GRCh38]
Chr16:23640515 [GRCh37]
Chr16:16p12.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
NM_024675.4(PALB2):c.2586+31T>G single nucleotide variant Familial cancer of breast [RCV001030323] Chr16:23629173 [GRCh38]
Chr16:23640494 [GRCh37]
Chr16:16p12.2		 likely benign
NM_024675.4(PALB2):c.2586+58C>T single nucleotide variant Breast-ovarian cancer, familial, susceptibility to, 5 [RCV003315617]|Familial cancer of breast [RCV001030324]|Hereditary breast ovarian cancer syndrome [RCV002225302]|not provided [RCV001698580]|not specified [RCV001689641] Chr16:23629146 [GRCh38]
Chr16:23629146..23629147 [GRCh38]
Chr16:23640467 [GRCh37]
Chr16:23640467..23640468 [GRCh37]
Chr16:16p12.2		 benign
NM_024675.4(PALB2):c.2586+81C>T single nucleotide variant Breast-ovarian cancer, familial, susceptibility to, 5 [RCV003315618]|Familial cancer of breast [RCV001030325]|Hereditary breast ovarian cancer syndrome [RCV002225303]|not provided [RCV001566290] Chr16:23629123 [GRCh38]
Chr16:23640444 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.2587-37G>C single nucleotide variant Familial cancer of breast [RCV001030329] Chr16:23626434 [GRCh38]
Chr16:23637755 [GRCh37]
Chr16:16p12.2		 likely benign
NM_024675.4(PALB2):c.2587-38C>G single nucleotide variant Familial cancer of breast [RCV001030328]|not provided [RCV001682801]|not specified [RCV002267852] Chr16:23626435 [GRCh38]
Chr16:23637756 [GRCh37]
Chr16:16p12.2		 likely benign
NM_024675.4(PALB2):c.2587-59T>C single nucleotide variant Familial cancer of breast [RCV001030327] Chr16:23626456 [GRCh38]
Chr16:23637777 [GRCh37]
Chr16:16p12.2		 likely benign
NM_024675.3(PALB2):c.2587-?_3201+?del (p.Asn863_Met1067del) deletion Familial cancer of breast [RCV000114544]   pathogenic
NM_024675.4(PALB2):c.2590C>T (p.Pro864Ser) single nucleotide variant Breast and/or ovarian cancer [RCV003149783]|Breast carcinoma [RCV001572628]|Breast-ovarian cancer, familial, susceptibility to, 5 [RCV003315619]|Familial cancer of breast [RCV000114545]|Familial cancer of breast [RCV002490764]|Fanconi anemia complementation group N [RCV000322970]|Hereditary cancer-predisposing syndrome [RCV000116089]|Malignant tumor of breast [RCV001269370]|not provided [RCV000487583]|not specified [RCV000121759] Chr16:23626394 [GRCh38]
Chr16:23637715 [GRCh37]
Chr16:16p12.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters|not provided
NM_024675.4(PALB2):c.2612A>G (p.Asp871Gly) single nucleotide variant Familial cancer of breast [RCV000114547]|Familial cancer of breast [RCV002490765]|Hereditary cancer-predisposing syndrome [RCV000572146]|Malignant tumor of breast [RCV001356501]|not provided [RCV000522335] Chr16:23626372 [GRCh38]
Chr16:23637693 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2661C>A (p.Ile887=) single nucleotide variant Familial cancer of breast [RCV001030339] Chr16:23626323 [GRCh38]
Chr16:23637644 [GRCh37]
Chr16:16p12.2		 likely benign
NM_024675.4(PALB2):c.2674G>A (p.Glu892Lys) single nucleotide variant Familial cancer of breast [RCV000114549]|Familial cancer of breast [RCV003483473]|Fanconi anemia complementation group N [RCV001118198]|Fanconi anemia complementation group N [RCV005016385]|Hereditary cancer-predisposing syndrome [RCV000131257]|PALB2-related disorder [RCV004739374]|not provided [RCV000587708]|not specified [RCV000483553] Chr16:23626310 [GRCh38]
Chr16:23637631 [GRCh37]
Chr16:16p12.2		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_024675.4(PALB2):c.2686dup (p.Ser896fs) duplication Familial cancer of breast [RCV001030340]|Hereditary cancer-predisposing syndrome [RCV000563499]|not provided [RCV000486793] Chr16:23626297..23626298 [GRCh38]
Chr16:23637618..23637619 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic
NM_024675.4(PALB2):c.26T>A (p.Leu9His) single nucleotide variant Familial cancer of breast [RCV001030104] Chr16:23641132 [GRCh38]
Chr16:23652453 [GRCh37]
Chr16:16p12.2		 likely benign
NM_024675.4(PALB2):c.2718G>A (p.Trp906Ter) single nucleotide variant Familial cancer of breast [RCV000114552]|Familial cancer of breast [RCV002498481]|Fanconi anemia complementation group N [RCV005394374]|Hereditary breast ovarian cancer syndrome [RCV004782240]|Hereditary cancer-predisposing syndrome [RCV000562748]|not provided [RCV000255170] Chr16:23626266 [GRCh38]
Chr16:23637587 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic
NM_024675.4(PALB2):c.2732C>T (p.Thr911Ile) single nucleotide variant Familial cancer of breast [RCV000114553]|Hereditary cancer-predisposing syndrome [RCV000454363]|not provided [RCV000589395] Chr16:23626252 [GRCh38]
Chr16:23637573 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2748+121T>C single nucleotide variant Familial cancer of breast [RCV001030341] Chr16:23626115 [GRCh38]
Chr16:23637436 [GRCh37]
Chr16:16p12.2		 likely benign
NM_024675.4(PALB2):c.2749-18C>T single nucleotide variant Breast and/or ovarian cancer [RCV003149784]|Familial cancer of breast [RCV000114555]|Hereditary breast ovarian cancer syndrome [RCV004764763]|Hereditary cancer-predisposing syndrome [RCV000127298]|not provided [RCV000679766]|not specified [RCV000212817] Chr16:23624112 [GRCh38]
Chr16:23635433 [GRCh37]
Chr16:16p12.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.2752C>T (p.Pro918Ser) single nucleotide variant Familial cancer of breast [RCV000114556]|Hereditary cancer-predisposing syndrome [RCV000165106]|not provided [RCV000478088]|not specified [RCV001171432] Chr16:23624091 [GRCh38]
Chr16:23635412 [GRCh37]
Chr16:16p12.2		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.2761C>T (p.Gln921Ter) single nucleotide variant Familial cancer of breast [RCV001030342]|Hereditary cancer-predisposing syndrome [RCV003162530] Chr16:23624082 [GRCh38]
Chr16:23635403 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.2773G>C (p.Val925Leu) single nucleotide variant Breast and/or ovarian cancer [RCV001798299]|Familial cancer of breast [RCV000114558]|Familial cancer of breast [RCV000764047]|Hereditary cancer-predisposing syndrome [RCV000129279]|not provided [RCV000235847] Chr16:23624070 [GRCh38]
Chr16:23635391 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.2794G>A (p.Val932Met) single nucleotide variant Breast and/or ovarian cancer [RCV003149785]|Breast-ovarian cancer, familial, susceptibility to, 5 [RCV003315620]|Familial cancer of breast [RCV000114559]|Familial cancer of breast [RCV002498482]|Familial ovarian cancer [RCV001357367]|Fanconi anemia complementation group N [RCV001118197]|Hereditary cancer-predisposing syndrome [RCV000116090]|Malignant tumor of breast [RCV001356378]|not provided [RCV000514905]|not specified [RCV000121760] Chr16:23624049 [GRCh38]
Chr16:23635370 [GRCh37]
Chr16:16p12.2		 benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters|not provided
NM_024675.4(PALB2):c.2816T>G (p.Leu939Trp) single nucleotide variant Breast and/or ovarian cancer [RCV001170349]|Familial cancer of breast [RCV000114561]|Fanconi anemia complementation group N [RCV000306515]|Hereditary breast ovarian cancer syndrome [RCV004760375]|Hereditary cancer-predisposing syndrome [RCV000116092]|Malignant tumor of breast [RCV001356702]|PALB2-related disorder [RCV004528790]|not provided [RCV000586156]|not specified [RCV000417395] Chr16:23624027 [GRCh38]
Chr16:23635348 [GRCh37]
Chr16:16p12.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
NM_024675.4(PALB2):c.2823C>A (p.Ile941=) single nucleotide variant Familial cancer of breast [RCV001030345]|Hereditary cancer-predisposing syndrome [RCV002433601] Chr16:23624020 [GRCh38]
Chr16:23635341 [GRCh37]
Chr16:16p12.2		 likely benign
NM_024675.4(PALB2):c.2834+12C>T single nucleotide variant Familial cancer of breast [RCV001030348] Chr16:23623997 [GRCh38]
Chr16:23635318 [GRCh37]
Chr16:16p12.2		 likely benign
NM_024675.4(PALB2):c.2834+20T>G single nucleotide variant Familial cancer of breast [RCV001030349] Chr16:23623989 [GRCh38]
Chr16:23635310 [GRCh37]
Chr16:16p12.2		 likely benign
NM_024675.4(PALB2):c.2834+21_2834+27del deletion Familial cancer of breast [RCV001030350] Chr16:23623982..23623988 [GRCh38]
Chr16:23635303..23635309 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2835-1G>C single nucleotide variant Familial cancer of breast [RCV000114567]|Familial cancer of breast [RCV001171468]|Fanconi anemia complementation group N [RCV005016386]|Hereditary cancer-predisposing syndrome [RCV000220116]|not provided [RCV004589552] Chr16:23623131 [GRCh38]
Chr16:23634452 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic
NM_024675.4(PALB2):c.2835-27C>T single nucleotide variant Familial cancer of breast [RCV001030353]|Hereditary breast ovarian cancer syndrome [RCV002225304]|not provided [RCV004704850]|not specified [RCV002267853] Chr16:23623157 [GRCh38]
Chr16:23634478 [GRCh37]
Chr16:16p12.2		 likely benign
NM_024675.4(PALB2):c.2837C>G (p.Ala946Gly) single nucleotide variant Familial cancer of breast [RCV001030354] Chr16:23623128 [GRCh38]
Chr16:23634449 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2851T>C (p.Ser951Pro) single nucleotide variant Breast-ovarian cancer, familial, susceptibility to, 5 [RCV005359047]|Familial cancer of breast [RCV001030355]|Fanconi anemia complementation group N [RCV000397940]|Hereditary cancer-predisposing syndrome [RCV000129725]|not provided [RCV000589520]|not specified [RCV000121763] Chr16:23623114 [GRCh38]
Chr16:23634435 [GRCh37]
Chr16:16p12.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters|not provided
NM_024675.4(PALB2):c.2859T>C (p.Asp953=) single nucleotide variant Familial cancer of breast [RCV000114571]|Hereditary cancer-predisposing syndrome [RCV000573602]|not provided [RCV001697043]|not specified [RCV005229898] Chr16:23623106 [GRCh38]
Chr16:23634427 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.2865T>A (p.Ser955Arg) single nucleotide variant Familial cancer of breast [RCV001030356] Chr16:23623100 [GRCh38]
Chr16:23634421 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2869A>C (p.Lys957Gln) single nucleotide variant Familial cancer of breast [RCV000114573]|Familial cancer of breast [RCV000764046]|Hereditary cancer-predisposing syndrome [RCV000160848]|not provided [RCV000212818]|not specified [RCV003226198] Chr16:23623096 [GRCh38]
Chr16:23634417 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.2903C>G (p.Ala968Gly) single nucleotide variant Familial cancer of breast [RCV000114574]|Fanconi anemia complementation group N [RCV005394375]|Hereditary cancer-predisposing syndrome [RCV000131197]|PALB2-related disorder [RCV004545746]|not provided [RCV001704012]|not specified [RCV000215879] Chr16:23623062 [GRCh38]
Chr16:23634383 [GRCh37]
Chr16:16p12.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_024675.4(PALB2):c.2920_2921del (p.Lys974fs) deletion Familial cancer of breast [RCV000114575]|Familial cancer of breast [RCV002477270]|Fanconi anemia complementation group N [RCV001781443]|Hereditary breast ovarian cancer syndrome [RCV000589949]|Hereditary cancer-predisposing syndrome [RCV000132234]|not provided [RCV000133483] Chr16:23623044..23623045 [GRCh38]
Chr16:23634365..23634366 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.2982dup (p.Ala995fs) duplication Breast-ovarian cancer, familial, susceptibility to, 5 [RCV005246644]|Familial cancer of breast [RCV000114576]|Hereditary cancer-predisposing syndrome [RCV000213482]|not provided [RCV003229810] Chr16:23622982..23622983 [GRCh38]
Chr16:23634303..23634304 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_024675.4(PALB2):c.298C>T (p.Leu100Phe) single nucleotide variant Breast and/or ovarian cancer [RCV003492442]|Familial cancer of breast [RCV000114577]|Fanconi anemia complementation group N [RCV001119843]|Fanconi anemia complementation group N [RCV001249253]|Hereditary cancer-predisposing syndrome [RCV000116095]|PALB2-related disorder [RCV004528791]|Pancreatic cancer, susceptibility to, 3 [RCV001355228]|not provided [RCV000212772]|not specified [RCV001192907] Chr16:23636248 [GRCh38]
Chr16:23647569 [GRCh37]
Chr16:16p12.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_024675.4(PALB2):c.2993G>A (p.Gly998Glu) single nucleotide variant Breast-ovarian cancer, familial, susceptibility to, 5 [RCV003315621]|Familial cancer of breast [RCV000114578]|Familial cancer of breast [RCV002498483]|Fanconi anemia complementation group N [RCV000372394]|Hereditary breast ovarian cancer syndrome [RCV002225305]|Hereditary cancer-predisposing syndrome [RCV000127300]|Malignant tumor of breast [RCV001356229]|Ovarian cancer [RCV003153364]|not provided [RCV000755594]|not specified [RCV000121762] Chr16:23622972 [GRCh38]
Chr16:23634293 [GRCh37]
Chr16:16p12.2		 likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|no classifications from unflagged records|not provided
NM_024675.4(PALB2):c.2996+124C>T single nucleotide variant Familial cancer of breast [RCV001030362] Chr16:23622845 [GRCh38]
Chr16:23634166 [GRCh37]
Chr16:16p12.2		 likely benign
NM_024675.4(PALB2):c.2996+17T>C single nucleotide variant Breast and/or ovarian cancer [RCV003149786]|Breast-ovarian cancer, familial, susceptibility to, 5 [RCV003315622]|Familial cancer of breast [RCV000114581]|Familial cancer of breast [RCV002498484]|Hereditary cancer-predisposing syndrome [RCV000127301]|not provided [RCV001529642]|not specified [RCV000212820] Chr16:23622952 [GRCh38]
Chr16:23634273 [GRCh37]
Chr16:16p12.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_024675.4(PALB2):c.2996+183del deletion Familial cancer of breast [RCV001030363]|not provided [RCV001647124] Chr16:23622786 [GRCh38]
Chr16:23634107 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.2996+58T>C single nucleotide variant Familial cancer of breast [RCV001030361] Chr16:23622911 [GRCh38]
Chr16:23634232 [GRCh37]
Chr16:16p12.2		 likely benign
NM_024675.4(PALB2):c.2997-624G>C single nucleotide variant Familial cancer of breast [RCV001030364] Chr16:23622102 [GRCh38]
Chr16:23633423 [GRCh37]
Chr16:16p12.2		 benign
NM_024675.4(PALB2):c.3024C>T (p.Pro1008=) single nucleotide variant Familial cancer of breast [RCV001030366]|Hereditary cancer-predisposing syndrome [RCV000575457]|Malignant tumor of breast [RCV001355003]|not specified [RCV005417963] Chr16:23621451 [GRCh38]
Chr16:23632772 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.3026del (p.Pro1009fs) deletion Familial cancer of breast [RCV000114586]|Hereditary breast ovarian cancer syndrome [RCV003155915]|Hereditary cancer-predisposing syndrome [RCV000584711]|not provided [RCV000133484] Chr16:23621449 [GRCh38]
Chr16:23632770 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.3048del (p.Phe1016fs) deletion Familial cancer of breast [RCV000114587]|Familial cancer of breast [RCV002477271]|Hereditary breast ovarian cancer syndrome [RCV001193464]|Hereditary cancer-predisposing syndrome [RCV000129785]|PALB2-related disorder [RCV004739375]|not provided [RCV000412897] Chr16:23621427 [GRCh38]
Chr16:23632748 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic
NM_024675.4(PALB2):c.3054G>C (p.Glu1018Asp) single nucleotide variant Familial cancer of breast [RCV000114588]|Fanconi anemia complementation group N [RCV000286032]|Hereditary breast ovarian cancer syndrome [RCV001030645]|Hereditary cancer-predisposing syndrome [RCV000130354]|Malignant tumor of breast [RCV001356371]|PALB2-related disorder [RCV004529923]|not provided [RCV000858970]|not specified [RCV000212821] Chr16:23621421 [GRCh38]
Chr16:23632742 [GRCh37]
Chr16:16p12.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.3056T>C (p.Val1019Ala) single nucleotide variant Familial cancer of breast [RCV000114589]|Hereditary cancer-predisposing syndrome [RCV000131550]|Pancreatic cancer, susceptibility to, 3 [RCV005359048]|not provided [RCV000235226]|not specified [RCV001192771] Chr16:23621419 [GRCh38]
Chr16:23632740 [GRCh37]
Chr16:16p12.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.3113+131G>T single nucleotide variant Familial cancer of breast [RCV001030382] Chr16:23621231 [GRCh38]
Chr16:23632552 [GRCh37]
Chr16:16p12.2		 likely benign
NM_024675.4(PALB2):c.3113G>A (p.Trp1038Ter) single nucleotide variant Breast and/or ovarian cancer [RCV003492443]|Breast-ovarian cancer, familial, susceptibility to, 5 [RCV003389455]|Familial cancer of breast [RCV000114591]|Familial cancer of breast [RCV001171469]|Fanconi anemia complementation group N [RCV001535480]|Fanconi anemia complementation group N [RCV005016387]|Hereditary breast ovarian cancer syndrome [RCV000588093]|Hereditary cancer-predisposing syndrome [RCV000116096]|Inherited breast cancer and ovarian cancer [RCV004584191]|Inherited ovarian cancer (without breast cancer) [RCV004584192]|NICE approved PARP inhibitor treatment [RCV004577322]|PALB2-related disorder [RCV004528792]|not provided [RCV000212822] Chr16:23621362 [GRCh38]
Chr16:23632683 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic|risk factor|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters|not provided
NM_024675.4(PALB2):c.3114-40T>G single nucleotide variant Familial cancer of breast [RCV001030387] Chr16:23614131 [GRCh38]
Chr16:23625452 [GRCh37]
Chr16:16p12.2		 likely benign
NM_024675.4(PALB2):c.3114-42G>T single nucleotide variant Familial cancer of breast [RCV001030386]|Hereditary cancer-predisposing syndrome [RCV000208880] Chr16:23614133 [GRCh38]
Chr16:23625454 [GRCh37]
Chr16:16p12.2		 likely benign
NM_024675.4(PALB2):c.3114-51= single nucleotide variant Familial cancer of breast [RCV001030385]|not provided [RCV001650947]|not specified [RCV001689642] Chr16:23614142 [GRCh38]
Chr16:23625463 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.3116del (p.Asn1039fs) deletion Breast and/or ovarian cancer [RCV003149787]|Breast-ovarian cancer, familial, susceptibility to, 5 [RCV005053909]|Familial cancer of breast [RCV000114595]|Familial cancer of breast [RCV002498485]|Fanconi anemia complementation group N [RCV000114596]|Hereditary breast ovarian cancer syndrome [RCV003235042]|Hereditary cancer-predisposing syndrome [RCV000131150]|Malignant tumor of breast [RCV001357097]|PALB2-related disorder [RCV004739376]|not provided [RCV000235691] Chr16:23614089 [GRCh38]
Chr16:23625410 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic|risk factor|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_024675.4(PALB2):c.3128G>C (p.Gly1043Ala) single nucleotide variant Familial cancer of breast [RCV000114598]|Familial cancer of breast [RCV002483180]|Hereditary cancer-predisposing syndrome [RCV000131630]|not provided [RCV000485289]|not specified [RCV000780560] Chr16:23614077 [GRCh38]
Chr16:23625398 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.3143A>G (p.Lys1048Arg) single nucleotide variant Familial cancer of breast [RCV001030391]|Hereditary cancer-predisposing syndrome [RCV000772055] Chr16:23614062 [GRCh38]
Chr16:23625383 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.315G>C (p.Glu105Asp) single nucleotide variant Familial cancer of breast [RCV000114600]|Familial cancer of breast [RCV002490766]|Hereditary breast ovarian cancer syndrome [RCV005359049]|Hereditary cancer-predisposing syndrome [RCV000116099]|PALB2-related disorder [RCV004529924]|not provided [RCV000212773]|not specified [RCV001174951] Chr16:23636231 [GRCh38]
Chr16:23647552 [GRCh37]
Chr16:16p12.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.3201+1125T>C single nucleotide variant Familial cancer of breast [RCV001030397] Chr16:23612879 [GRCh38]
Chr16:23624200 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.3201+112A>G single nucleotide variant Familial cancer of breast [RCV001030395] Chr16:23613892 [GRCh38]
Chr16:23625213 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.3201+115T>C single nucleotide variant Familial cancer of breast [RCV001030396] Chr16:23613889 [GRCh38]
Chr16:23625210 [GRCh37]
Chr16:16p12.2		 likely benign
NM_024675.4(PALB2):c.3201+96G>A single nucleotide variant Familial cancer of breast [RCV001030394]|Hereditary breast ovarian cancer syndrome [RCV002225306]|not provided [RCV004703236] Chr16:23613908 [GRCh38]
Chr16:23625229 [GRCh37]
Chr16:16p12.2		 likely benign
NM_024675.4(PALB2):c.3202-1G>C single nucleotide variant Familial cancer of breast [RCV000114605]|Hereditary cancer-predisposing syndrome [RCV002321588]|not provided [RCV000160851] Chr16:23608013 [GRCh38]
Chr16:23619334 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic
NM_024675.4(PALB2):c.3202-45A>G single nucleotide variant Familial cancer of breast [RCV001030398] Chr16:23608057 [GRCh38]
Chr16:23619378 [GRCh37]
Chr16:16p12.2		 likely benign
PALB2:c.3202-?_*297del (p.Gly1068_Ser1186delins45) deletion Familial cancer of breast [RCV000114607]|Pancreatic cancer 3 [RCV000114608] Chr16:23603162..23608012 [GRCh38]
Chr16:23614483..23619333 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.3249G>C (p.Glu1083Asp) single nucleotide variant Anaplastic ependymoma [RCV000761171]|Familial cancer of breast [RCV000114609]|Hereditary cancer-predisposing syndrome [RCV000116102]|PALB2-related disorder [RCV004529925]|not provided [RCV000656939]|not specified [RCV000212823] Chr16:23607965 [GRCh38]
Chr16:23619286 [GRCh37]
Chr16:16p12.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.3251C>T (p.Ser1084Leu) single nucleotide variant Familial cancer of breast [RCV000114610]|Familial cancer of breast [RCV000764043]|Fanconi anemia complementation group N [RCV001116749]|Hereditary cancer-predisposing syndrome [RCV000160852]|Malignant tumor of breast [RCV001358132]|PALB2-related disorder [RCV004739377]|not provided [RCV000656940]|not specified [RCV003493439] Chr16:23607963 [GRCh38]
Chr16:23619284 [GRCh37]
Chr16:16p12.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.3252G>A (p.Ser1084=) single nucleotide variant Familial cancer of breast [RCV001030401]|Familial cancer of breast [RCV002498486]|Hereditary cancer-predisposing syndrome [RCV000162543]|not provided [RCV000588828]|not specified [RCV000506618] Chr16:23607962 [GRCh38]
Chr16:23619283 [GRCh37]
Chr16:16p12.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.3256C>T (p.Arg1086Ter) single nucleotide variant Breast and/or ovarian cancer [RCV003149788]|Breast-ovarian cancer, familial, susceptibility to, 5 [RCV003315406]|Familial cancer of breast [RCV000168017]|Fanconi anemia complementation group N [RCV005003472]|Gastric cancer [RCV003162531]|Hereditary breast ovarian cancer syndrome [RCV001030644]|Hereditary cancer-predisposing syndrome [RCV000160853]|Malignant tumor of breast [RCV002307393]|PALB2-related disorder [RCV004528793]|Pancreatic cancer, susceptibility to, 3 [RCV000114612]|not provided [RCV000212825] Chr16:23607958 [GRCh38]
Chr16:23619279 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic|risk factor|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_024675.4(PALB2):c.3300T>G (p.Thr1100=) single nucleotide variant Breast-ovarian cancer, familial, susceptibility to, 5 [RCV003315623]|Familial cancer of breast [RCV000114613]|Familial cancer of breast [RCV002498487]|Fanconi anemia complementation group N [RCV000321267]|Hereditary breast ovarian cancer syndrome [RCV002225307]|Hereditary cancer-predisposing syndrome [RCV000162360]|Malignant tumor of breast [RCV001355729]|not provided [RCV000857374]|not specified [RCV000250631] Chr16:23607914 [GRCh38]
Chr16:23619235 [GRCh37]
Chr16:16p12.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_024675.4(PALB2):c.3306C>G (p.Ser1102Arg) single nucleotide variant Familial cancer of breast [RCV000114615]|Fanconi anemia complementation group N [RCV005016388]|Hereditary cancer-predisposing syndrome [RCV000216794]|not specified [RCV002267854] Chr16:23607908 [GRCh38]
Chr16:23619229 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.3307G>A (p.Val1103Met) single nucleotide variant Breast-ovarian cancer, familial, susceptibility to, 5 [RCV005359050]|Familial cancer of breast [RCV000114616]|Hereditary breast ovarian cancer syndrome [RCV001030643]|Hereditary cancer-predisposing syndrome [RCV000116103]|PALB2-related disorder [RCV004739378]|not provided [RCV000656941]|not specified [RCV000212827] Chr16:23607907 [GRCh38]
Chr16:23619228 [GRCh37]
Chr16:16p12.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.3321G>A (p.Leu1107=) single nucleotide variant Familial cancer of breast [RCV001030409]|Hereditary cancer-predisposing syndrome [RCV001019988] Chr16:23607893 [GRCh38]
Chr16:23619214 [GRCh37]
Chr16:16p12.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.3323del (p.Tyr1108fs) deletion Familial cancer of breast [RCV000168157]|Familial cancer of breast [RCV002498488]|Fanconi anemia complementation group N [RCV000114618]|Hereditary breast ovarian cancer syndrome [RCV000590634]|Hereditary cancer-predisposing syndrome [RCV000132282]|Malignant tumor of breast [RCV001356710]|not provided [RCV000235326] Chr16:23607891 [GRCh38]
Chr16:23619212 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic
NM_024675.4(PALB2):c.3350+11A>G single nucleotide variant Familial cancer of breast [RCV001030411]|Fanconi anemia complementation group N [RCV002466432]|not specified [RCV000424366] Chr16:23607853 [GRCh38]
Chr16:23619174 [GRCh37]
Chr16:16p12.2		 likely benign|uncertain significance
NM_024675.4(PALB2):c.3350+16T>G single nucleotide variant Familial cancer of breast [RCV001030412]|Familial cancer of breast [RCV002498489]|Hereditary cancer-predisposing syndrome [RCV000581930] Chr16:23607848 [GRCh38]
Chr16:23619169 [GRCh37]
Chr16:16p12.2		 likely benign
NM_024675.4(PALB2):c.3350+4A>G single nucleotide variant Breast-ovarian cancer, familial, susceptibility to, 5 [RCV003315407]|Familial cancer of breast [RCV000114621]|Hereditary cancer-predisposing syndrome [RCV000213830]|Malignant tumor of breast [RCV004798779]|PALB2-related cancer predisposition [RCV005359051]|PALB2-related disorder [RCV004528794]|not provided [RCV000433683] Chr16:23607860 [GRCh38]
Chr16:23619181 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.3356T>C (p.Leu1119Pro) single nucleotide variant Familial cancer of breast [RCV000114623]|Fanconi anemia complementation group N [RCV005016389]|Hereditary cancer-predisposing syndrome [RCV000574823]|not provided [RCV000481742] Chr16:23603664 [GRCh38]
Chr16:23614985 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.3362del (p.Gly1121fs) deletion Breast and/or ovarian cancer [RCV001798300]|Familial cancer of breast [RCV000114624]|Hereditary breast ovarian cancer syndrome [RCV001193463]|Hereditary cancer-predisposing syndrome [RCV000130740]|Malignant tumor of breast [RCV001355561]|not provided [RCV000235614] Chr16:23603658 [GRCh38]
Chr16:23614979 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_024675.4(PALB2):c.3428T>A (p.Leu1143His) single nucleotide variant Familial cancer of breast [RCV000114625]|Familial cancer of breast [RCV000764041]|Fanconi anemia complementation group N [RCV005394376]|Hereditary cancer-predisposing syndrome [RCV000116104]|PALB2-related disorder [RCV004528795]|bilateral breast cancer [RCV001004833]|not provided [RCV000585950]|not specified [RCV001804169] Chr16:23603592 [GRCh38]
Chr16:23614913 [GRCh37]
Chr16:16p12.2		 likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.3428T>C (p.Leu1143Pro) single nucleotide variant Familial cancer of breast [RCV000114626]|Familial cancer of breast [RCV000764040]|Hereditary cancer-predisposing syndrome [RCV001020276] Chr16:23603592 [GRCh38]
Chr16:23614913 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.3433G>C (p.Gly1145Arg) single nucleotide variant Familial cancer of breast [RCV001030417]|Hereditary cancer-predisposing syndrome [RCV002453423] Chr16:23603587 [GRCh38]
Chr16:23614908 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.344G>T (p.Gly115Val) single nucleotide variant Breast and/or ovarian cancer [RCV003149789]|Familial cancer of breast [RCV000114628]|Hereditary cancer-predisposing syndrome [RCV000165559]|Malignant tumor of breast [RCV001357627]|PALB2-related disorder [RCV004528796]|not provided [RCV000589320] Chr16:23636202 [GRCh38]
Chr16:23647523 [GRCh37]
Chr16:16p12.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.3483T>C (p.Phe1161=) single nucleotide variant Breast-ovarian cancer, familial, susceptibility to, 5 [RCV005359052]|Familial cancer of breast [RCV000114629]|Hereditary cancer-predisposing syndrome [RCV000163039]|not provided [RCV001719855] Chr16:23603537 [GRCh38]
Chr16:23614858 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.3495G>A (p.Ser1165=) single nucleotide variant Breast and/or ovarian cancer [RCV001798301]|Familial cancer of breast [RCV001082966]|Fanconi anemia complementation group N [RCV000384114]|Hereditary cancer-predisposing syndrome [RCV000127303]|Malignant tumor of breast [RCV001355544]|PALB2-related disorder [RCV004739379]|not provided [RCV000586081]|not specified [RCV000212828] Chr16:23603525 [GRCh38]
Chr16:23614846 [GRCh37]
Chr16:16p12.2		 benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_024675.4(PALB2):c.3497del (p.Gly1166fs) deletion Hereditary cancer-predisposing syndrome [RCV002453424]|not provided [RCV001030419] Chr16:23603523 [GRCh38]
Chr16:23614844 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.3539T>C (p.Ile1180Thr) single nucleotide variant Familial cancer of breast [RCV000114633]|Hereditary cancer-predisposing syndrome [RCV000569135]|PALB2-related disorder [RCV004739380]|not provided [RCV000479423]|not specified [RCV001824604] Chr16:23603481 [GRCh38]
Chr16:23614802 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.395del (p.Val132fs) deletion Familial cancer of breast [RCV000700247]|Fanconi anemia complementation group N [RCV001030150]|Fanconi anemia complementation group N [RCV004776431]|Hereditary cancer-predisposing syndrome [RCV001021525] Chr16:23636151 [GRCh38]
Chr16:23647472 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.400G>A (p.Asp134Asn) single nucleotide variant Breast and/or ovarian cancer [RCV001798302]|Familial cancer of breast [RCV000114637]|Hereditary breast ovarian cancer syndrome [RCV002225308]|Hereditary cancer-predisposing syndrome [RCV000128994]|not provided [RCV000590187]|not specified [RCV000200990] Chr16:23636146 [GRCh38]
Chr16:23647467 [GRCh37]
Chr16:16p12.2		 likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
NM_024675.4(PALB2):c.48+1G>C single nucleotide variant Familial cancer of breast [RCV001030106]|Hereditary cancer-predisposing syndrome [RCV000213648]|not provided [RCV000236723] Chr16:23641109 [GRCh38]
Chr16:23652430 [GRCh37]
Chr16:16p12.2		 likely pathogenic|uncertain significance
NM_024675.4(PALB2):c.48+27G>T single nucleotide variant Familial cancer of breast [RCV001030107] Chr16:23641083 [GRCh38]
Chr16:23652404 [GRCh37]
Chr16:16p12.2		 likely benign
NM_024675.4(PALB2):c.49-173G>T single nucleotide variant Familial cancer of breast [RCV001030108] Chr16:23638302 [GRCh38]
Chr16:23649623 [GRCh37]
Chr16:16p12.2		 likely benign
NM_024675.4(PALB2):c.49-54C>T single nucleotide variant Familial cancer of breast [RCV001030109]|not provided [RCV004703237] Chr16:23638183 [GRCh38]
Chr16:23649504 [GRCh37]
Chr16:16p12.2		 likely benign
NM_024675.4(PALB2):c.503C>A (p.Ser168Ter) single nucleotide variant Familial cancer of breast [RCV000114642]|Hereditary cancer-predisposing syndrome [RCV000562468]|not provided [RCV003332116] Chr16:23636043 [GRCh38]
Chr16:23647364 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_024675.4(PALB2):c.505C>A (p.Leu169Ile) single nucleotide variant Familial cancer of breast [RCV001030154]|Hereditary cancer-predisposing syndrome [RCV002336247] Chr16:23636041 [GRCh38]
Chr16:23647362 [GRCh37]
Chr16:16p12.2		 likely benign|uncertain significance
NM_024675.3(PALB2):c.508_509delAG (p.Arg170Ilefs) deletion Familial cancer of breast [RCV000114644] Chr16:23636037..23636038 [GRCh38]
Chr16:23647358..23647359 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.509_510del (p.Arg170fs) deletion Breast and/or ovarian cancer [RCV001270995]|Breast carcinoma [RCV001554297]|Breast-ovarian cancer, familial, susceptibility to, 1 [RCV003322596]|Breast-ovarian cancer, familial, susceptibility to, 5 [RCV004562253]|Carcinoma of pancreas [RCV001391207]|Familial cancer of breast [RCV000114645]|Familial cancer of breast [RCV002505027]|Fanconi anemia complementation group N [RCV003137629]|Hereditary breast ovarian cancer syndrome [RCV003155916]|Hereditary cancer-predisposing syndrome [RCV000130658]|Malignant tumor of breast [RCV001356172]|PALB2-related disorder [RCV004528797]|Pancreatic cancer, susceptibility to, 3 [RCV001258079]|not provided [RCV000212776]|not specified [RCV001000478] Chr16:23636036..23636037 [GRCh38]
Chr16:23647357..23647358 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic
NM_024675.4(PALB2):c.53A>G (p.Lys18Arg) single nucleotide variant Familial cancer of breast [RCV000114647]|Fanconi anemia complementation group N [RCV000376271]|Hereditary breast ovarian cancer syndrome [RCV002225309]|Hereditary cancer-predisposing syndrome [RCV000129207]|not provided [RCV000440737]|not specified [RCV000121743] Chr16:23638125 [GRCh38]
Chr16:23649446 [GRCh37]
Chr16:16p12.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters|not provided
NM_024675.4(PALB2):c.618T>G (p.Leu206=) single nucleotide variant Familial cancer of breast [RCV001030161] Chr16:23635928 [GRCh38]
Chr16:23647249 [GRCh37]
Chr16:16p12.2		 likely benign
NM_024675.4(PALB2):c.620C>G (p.Pro207Arg) single nucleotide variant Familial cancer of breast [RCV000114649]|Hereditary cancer-predisposing syndrome [RCV000776330]|not provided [RCV001572249] Chr16:23635926 [GRCh38]
Chr16:23647247 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.629C>T (p.Pro210Leu) single nucleotide variant Breast and/or ovarian cancer [RCV001798303]|Familial cancer of breast [RCV000114650]|Fanconi anemia complementation group N [RCV000306267]|Hereditary breast ovarian cancer syndrome [RCV002225310]|Hereditary cancer-predisposing syndrome [RCV000131969]|Malignant tumor of breast [RCV001358034]|not provided [RCV001705820]|not specified [RCV000121750] Chr16:23635917 [GRCh38]
Chr16:23647238 [GRCh37]
Chr16:16p12.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_024675.4(PALB2):c.632A>G (p.Glu211Gly) single nucleotide variant Familial cancer of breast [RCV000114651]|Hereditary cancer-predisposing syndrome [RCV001025140]|not specified [RCV003493440] Chr16:23635914 [GRCh38]
Chr16:23647235 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.656A>G (p.Asp219Gly) single nucleotide variant Breast-ovarian cancer, familial, susceptibility to, 5 [RCV005359053]|Familial cancer of breast [RCV000114652]|Hereditary cancer [RCV003492444]|Hereditary cancer-predisposing syndrome [RCV000129603]|PALB2-related disorder [RCV004542814]|not provided [RCV000589693]|not specified [RCV000855601] Chr16:23635890 [GRCh38]
Chr16:23647211 [GRCh37]
Chr16:16p12.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
NM_024675.4(PALB2):c.697del (p.Val233fs) deletion Breast and/or ovarian cancer [RCV001270997]|Breast-ovarian cancer, familial, susceptibility to, 5 [RCV005256561]|Familial cancer of breast [RCV000114653]|Hereditary cancer-predisposing syndrome [RCV000771207]|not provided [RCV000481242] Chr16:23635849 [GRCh38]
Chr16:23647170 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.721A>G (p.Asn241Asp) single nucleotide variant Breast and/or ovarian cancer [RCV003492445]|Breast-ovarian cancer, familial, susceptibility to, 5 [RCV003315624]|Familial cancer of breast [RCV001083216]|Hereditary breast ovarian cancer syndrome [RCV002225311]|Hereditary cancer-predisposing syndrome [RCV000116111]|Malignant tumor of breast [RCV001356373]|not provided [RCV000587175]|not specified [RCV000121748] Chr16:23635825 [GRCh38]
Chr16:23647146 [GRCh37]
Chr16:16p12.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters|not provided
NM_024675.4(PALB2):c.72del (p.Arg26fs) deletion Familial cancer of breast [RCV000114655]|Fanconi anemia complementation group N [RCV005016390]|Hereditary cancer-predisposing syndrome [RCV000164203]|not provided [RCV001030114] Chr16:23638106 [GRCh38]
Chr16:23649427 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic
NM_024675.4(PALB2):c.751C>T (p.Gln251Ter) single nucleotide variant Breast and/or ovarian cancer [RCV003492446]|Breast-ovarian cancer, familial, susceptibility to, 5 [RCV004813057]|Familial cancer of breast [RCV000114657]|Fanconi anemia complementation group N [RCV004796018]|Hereditary cancer-predisposing syndrome [RCV000210097]|not provided [RCV000413603] Chr16:23635795 [GRCh38]
Chr16:23647116 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.757_758del (p.Leu253fs) microsatellite Breast and/or ovarian cancer [RCV003492447]|Breast-ovarian cancer, familial, susceptibility to, 1 [RCV003128230]|Breast-ovarian cancer, familial, susceptibility to, 5 [RCV005256562]|Familial cancer of breast [RCV000114658]|Familial cancer of breast [RCV002505028]|Fanconi anemia complementation group N [RCV000114659]|Fanconi anemia complementation group N [RCV001535793]|Fanconi anemia complementation group N [RCV004796019]|Hereditary breast ovarian cancer syndrome [RCV004760376]|Hereditary cancer-predisposing syndrome [RCV000116112]|PALB2-related disorder [RCV004739381]|not provided [RCV000212779] Chr16:23635788..23635789 [GRCh38]
Chr16:23647109..23647110 [GRCh37]
Chr16:16p12.2		 pathogenic|not provided
NM_024675.4(PALB2):c.758dup (p.Ser254fs) duplication Familial cancer of breast [RCV000114661]|Familial cancer of breast [RCV002505029]|Hereditary breast ovarian cancer syndrome [RCV001293421]|Hereditary cancer-predisposing syndrome [RCV000129208]|PALB2-related disorder [RCV004542815]|not provided [RCV000212780] Chr16:23635787..23635788 [GRCh38]
Chr16:23647108..23647109 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_024675.4(PALB2):c.765T>C (p.Asp255=) single nucleotide variant Breast and/or ovarian cancer [RCV003149790]|Familial cancer of breast [RCV000114662]|Familial cancer of breast [RCV002490768]|Fanconi anemia [RCV000338727]|Hereditary cancer-predisposing syndrome [RCV000215345]|PALB2-related disorder [RCV004529926]|not provided [RCV000590553]|not specified [RCV005229899] Chr16:23635781 [GRCh38]
Chr16:23647102 [GRCh37]
Chr16:16p12.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_024675.4(PALB2):c.807T>C (p.Gly269=) single nucleotide variant Familial cancer of breast [RCV000114663]|Hereditary cancer-predisposing syndrome [RCV000218873]|not provided [RCV001704013] Chr16:23635739 [GRCh38]
Chr16:23647060 [GRCh37]
Chr16:16p12.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.814G>A (p.Glu272Lys) single nucleotide variant Familial cancer of breast [RCV000114664]|Familial cancer of breast [RCV002483181]|Hereditary cancer-predisposing syndrome [RCV000165689]|not provided [RCV003477491]|not specified [RCV004595926] Chr16:23635732 [GRCh38]
Chr16:23647053 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.832C>G (p.Leu278Val) single nucleotide variant Familial cancer of breast [RCV001030180] Chr16:23635714 [GRCh38]
Chr16:23647035 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.83A>G (p.Tyr28Cys) single nucleotide variant Familial cancer of breast [RCV000114666]|Hereditary cancer-predisposing syndrome [RCV000220533] Chr16:23638095 [GRCh38]
Chr16:23649416 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.854C>T (p.Ser285Leu) single nucleotide variant Familial cancer of breast [RCV000114667]|Hereditary cancer-predisposing syndrome [RCV001017979]|not provided [RCV004691752] Chr16:23635692 [GRCh38]
Chr16:23647013 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.897T>C (p.Ser299=) single nucleotide variant Breast and/or ovarian cancer [RCV001798304]|Familial cancer of breast [RCV000114668]|Fanconi anemia complementation group N [RCV001118310]|Hereditary cancer-predisposing syndrome [RCV000566337]|not provided [RCV000858848]|not specified [RCV000419649] Chr16:23635649 [GRCh38]
Chr16:23646970 [GRCh37]
Chr16:16p12.2		 benign|likely benign|uncertain significance
NM_024675.4(PALB2):c.899C>T (p.Thr300Ile) single nucleotide variant Familial cancer of breast [RCV000114669]|Hereditary cancer-predisposing syndrome [RCV000219489]|Malignant tumor of breast [RCV001354467]|not provided [RCV001284670]|not specified [RCV000121751] Chr16:23635647 [GRCh38]
Chr16:23646968 [GRCh37]
Chr16:16p12.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_024675.4(PALB2):c.909C>T (p.Leu303=) single nucleotide variant Familial cancer of breast [RCV000114670]|Fanconi anemia complementation group N [RCV000300127]|Hereditary cancer-predisposing syndrome [RCV000127304]|Malignant tumor of breast [RCV001358321]|not provided [RCV001531848]|not specified [RCV000212781] Chr16:23635637 [GRCh38]
Chr16:23646958 [GRCh37]
Chr16:16p12.2		 benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_024675.4(PALB2):c.90G>T (p.Lys30Asn) single nucleotide variant Familial cancer of breast [RCV001030118] Chr16:23638088 [GRCh38]
Chr16:23649409 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.925A>G (p.Ile309Val) single nucleotide variant Breast-ovarian cancer, familial, susceptibility to, 5 [RCV003315625]|Familial cancer of breast [RCV000114672]|Fanconi anemia complementation group N [RCV000335364]|Hereditary breast ovarian cancer syndrome [RCV002225312]|Hereditary cancer-predisposing syndrome [RCV000129841]|Malignant tumor of breast [RCV001357007]|not provided [RCV000757594]|not specified [RCV000121749] Chr16:23635621 [GRCh38]
Chr16:23646942 [GRCh37]
Chr16:16p12.2		 benign|likely benign|conflicting interpretations of pathogenicity|not provided
NM_024675.4(PALB2):c.94C>G (p.Leu32Val) single nucleotide variant Familial cancer of breast [RCV000114673]|Fanconi anemia complementation group N [RCV001119845]|Fanconi anemia complementation group N [RCV005016391]|Hereditary cancer-predisposing syndrome [RCV000116117]|Malignant tumor of breast [RCV001357251]|PALB2-related disorder [RCV004529927]|not provided [RCV000656932]|not specified [RCV000121744] Chr16:23638084 [GRCh38]
Chr16:23649405 [GRCh37]
Chr16:16p12.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_024675.4(PALB2):c.956C>A (p.Ser319Tyr) single nucleotide variant Familial cancer of breast [RCV000114674]|Hereditary cancer-predisposing syndrome [RCV000574080] Chr16:23635590 [GRCh38]
Chr16:23646911 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.999C>T (p.Thr333=) single nucleotide variant Familial cancer of breast [RCV000114675]|Hereditary cancer-predisposing syndrome [RCV001525986] Chr16:23635547 [GRCh38]
Chr16:23646868 [GRCh37]
Chr16:16p12.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024675.3(PALB2):c.3201+2109G>C single nucleotide variant Lung cancer [RCV000099832] Chr16:23611895 [GRCh38]
Chr16:23623216 [GRCh37]
Chr16:16p12.2		 uncertain significance
GRCh38/hg38 16p13.11-12.1(chr16:14954894-28306843)x3 copy number gain See cases [RCV000051828] Chr16:14954894..28306843 [GRCh38]
Chr16:15048751..28318164 [GRCh37]
Chr16:14956252..28225665 [NCBI36]
Chr16:16p13.11-12.1		 pathogenic
GRCh38/hg38 16p12.2-11.2(chr16:21463739-29249579)x3 copy number gain See cases [RCV000051829] Chr16:21463739..29249579 [GRCh38]
Chr16:21475060..29260900 [GRCh37]
Chr16:21382561..29168401 [NCBI36]
Chr16:16p12.2-11.2		 pathogenic
GRCh38/hg38 16p12.2-11.2(chr16:21602183-29314373)x3 copy number gain See cases [RCV000051842] Chr16:21602183..29314373 [GRCh38]
Chr16:21613504..29325694 [GRCh37]
Chr16:21521005..29233195 [NCBI36]
Chr16:16p12.2-11.2		 pathogenic
GRCh38/hg38 16p12.2-11.2(chr16:23047969-30632245)x3 copy number gain See cases [RCV000052401] Chr16:23047969..30632245 [GRCh38]
Chr16:23059290..30643566 [GRCh37]
Chr16:22966791..30551067 [NCBI36]
Chr16:16p12.2-11.2		 pathogenic
GRCh38/hg38 16p12.2-12.1(chr16:21600992-28323344)x1 copy number loss See cases [RCV000052519] Chr16:21600992..28323344 [GRCh38]
Chr16:21612313..28334665 [GRCh37]
Chr16:21519814..28242166 [NCBI36]
Chr16:16p12.2-12.1		 pathogenic
NM_024675.4(PALB2):c.2057G>A (p.Arg686Lys) single nucleotide variant Familial cancer of breast [RCV000704434]|Hereditary cancer-predisposing syndrome [RCV000774635]|PALB2-related disorder [RCV004537269]|not provided [RCV001572169]|not specified [RCV003226185] Chr16:23630097 [GRCh38]
Chr16:23641418 [GRCh37]
Chr16:23548919 [NCBI36]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_024675.4(PALB2):c.820dup (p.Thr274fs) duplication Familial cancer of breast [RCV003451585]|Hereditary breast ovarian cancer syndrome [RCV001030717]|Hereditary cancer-predisposing syndrome [RCV001027286]|not provided [RCV000657281] Chr16:23635725..23635726 [GRCh38]
Chr16:23647046..23647047 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic
NM_024675.4(PALB2):c.2619del (p.Ser873fs) deletion not provided [RCV000657352] Chr16:23626365 [GRCh38]
Chr16:23637686 [GRCh37]
Chr16:16p12.2		 likely pathogenic
NM_024675.4(PALB2):c.1845del (p.Asp616fs) deletion Familial cancer of breast [RCV003607340]|not provided [RCV000657402] Chr16:23630309 [GRCh38]
Chr16:23641630 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic
NM_024675.4(PALB2):c.1675_1676delinsTG inversion Familial cancer of breast [RCV000635816]|Familial cancer of breast [RCV002490784]|Hereditary cancer-predisposing syndrome [RCV000116070]|Malignant tumor of breast [RCV001280657]|PALB2-related disorder [RCV004739404]|Precursor B-cell acute lymphoblastic leukemia [RCV000722029]|not provided [RCV000235193] Chr16:23634870..23634871 [GRCh38]
Chr16:23646191..23646192 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.3:c.2145_2146delTA deletion Familial cancer of breast [RCV000114514] Chr16:23630008..23630009 [GRCh38]
Chr16:23641329..23641330 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.1128T>G (p.Ser376Arg) single nucleotide variant Familial cancer of breast [RCV000204740]|Familial cancer of breast [RCV002483189]|Hereditary cancer-predisposing syndrome [RCV000568625]|not provided [RCV000116062] Chr16:23635418 [GRCh38]
Chr16:23646739 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1240C>T (p.Arg414Ter) single nucleotide variant Breast-ovarian cancer, familial, susceptibility to, 1 [RCV004668783]|Familial cancer of breast [RCV000123331]|Fanconi anemia complementation group N [RCV005003478]|Gastric cancer [RCV003162546]|Hereditary breast ovarian cancer syndrome [RCV000588541]|Hereditary cancer-predisposing syndrome [RCV000116064]|Malignant tumor of breast [RCV001354096]|PALB2-related disorder [RCV004529946]|Pancreatic cancer, susceptibility to, 3 [RCV004555854]|not provided [RCV000254674] Chr16:23635306 [GRCh38]
Chr16:23646627 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.1347A>G (p.Lys449=) single nucleotide variant Familial cancer of breast [RCV001087089]|Hereditary cancer-predisposing syndrome [RCV000116066]|Pancreatic cancer, susceptibility to, 3 [RCV001356241]|not provided [RCV000590184]|not specified [RCV001818286] Chr16:23635199 [GRCh38]
Chr16:23646520 [GRCh37]
Chr16:16p12.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
NM_024675.4(PALB2):c.1348A>C (p.Asn450His) single nucleotide variant Breast-ovarian cancer, familial, susceptibility to, 5 [RCV005359103]|Familial cancer of breast [RCV000198442]|Familial cancer of breast [RCV000765274]|Hereditary cancer-predisposing syndrome [RCV000116067]|not provided [RCV000212791] Chr16:23635198 [GRCh38]
Chr16:23646519 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1564C>T (p.Pro522Ser) single nucleotide variant Familial cancer of breast [RCV000205286]|Hereditary cancer-predisposing syndrome [RCV000563884]|Malignant tumor of breast [RCV001357507]|not provided [RCV000116069]|not specified [RCV001192765] Chr16:23634982 [GRCh38]
Chr16:23646303 [GRCh37]
Chr16:16p12.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.1697G>A (p.Arg566His) single nucleotide variant Breast-ovarian cancer, familial, susceptibility to, 5 [RCV005359104]|Familial cancer of breast [RCV000229982]|Fanconi anemia complementation group N [RCV005016399]|Hereditary cancer-predisposing syndrome [RCV000564017]|PALB2-related disorder [RCV004542828]|not provided [RCV000116071]|not specified [RCV001030254] Chr16:23630457 [GRCh38]
Chr16:23641778 [GRCh37]
Chr16:16p12.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.1733G>T (p.Ser578Ile) single nucleotide variant Familial cancer of breast [RCV000474485]|Familial cancer of breast [RCV002483190]|Hereditary cancer-predisposing syndrome [RCV000567502]|not provided [RCV000116074] Chr16:23630421 [GRCh38]
Chr16:23641742 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.194C>T (p.Pro65Leu) single nucleotide variant Familial cancer of breast [RCV000168167]|Hereditary cancer-predisposing syndrome [RCV000116075]|Pancreatic cancer, susceptibility to, 3 [RCV001030125]|not provided [RCV000585283]|not specified [RCV000121745] Chr16:23637867 [GRCh38]
Chr16:23649188 [GRCh37]
Chr16:16p12.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_024675.4(PALB2):c.1987C>T (p.Arg663Cys) single nucleotide variant Familial cancer of breast [RCV000410272]|Familial pancreatic carcinoma [RCV005365003]|Hereditary cancer-predisposing syndrome [RCV000116076]|not provided [RCV000212804]|not specified [RCV002509225] Chr16:23630167 [GRCh38]
Chr16:23641488 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.2078A>G (p.His693Arg) single nucleotide variant Familial cancer of breast [RCV000467228]|Hereditary cancer-predisposing syndrome [RCV000576106]|not provided [RCV000116077] Chr16:23630076 [GRCh38]
Chr16:23641397 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.2117C>G (p.Thr706Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004019621]|not provided [RCV000116078] Chr16:23630037 [GRCh38]
Chr16:23641358 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2120del (p.Pro707fs) deletion Familial cancer of breast [RCV000409069]|Hereditary cancer-predisposing syndrome [RCV000116079]|Malignant tumor of breast [RCV005055585]|Pancreatic cancer, susceptibility to, 3 [RCV001258078]|not provided [RCV000254677] Chr16:23630034 [GRCh38]
Chr16:23641355 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.2230G>A (p.Glu744Lys) single nucleotide variant Familial cancer of breast [RCV000635763]|Hereditary cancer-predisposing syndrome [RCV000234885]|not provided [RCV000116082]|not specified [RCV002265611] Chr16:23629924 [GRCh38]
Chr16:23641245 [GRCh37]
Chr16:16p12.2		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.2379C>T (p.Gly793=) single nucleotide variant Familial cancer of breast [RCV000200135]|Fanconi anemia complementation group N [RCV000292657]|Hereditary cancer-predisposing syndrome [RCV000116084]|Malignant tumor of breast [RCV001354155]|PALB2-related disorder [RCV004542829]|not provided [RCV000212811]|not specified [RCV000780574] Chr16:23629775 [GRCh38]
Chr16:23641096 [GRCh37]
Chr16:16p12.2		 likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.2390_2396del (p.Gln797fs) deletion Familial cancer of breast [RCV003474718]|Hereditary cancer-predisposing syndrome [RCV000116085]|not provided [RCV000497296] Chr16:23629758..23629764 [GRCh38]
Chr16:23641079..23641085 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.2395A>C (p.Thr799Pro) single nucleotide variant not provided [RCV000116086] Chr16:23629759 [GRCh38]
Chr16:23641080 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2509G>A (p.Glu837Lys) single nucleotide variant Breast and/or ovarian cancer [RCV001798359]|Familial cancer of breast [RCV000989556]|Fanconi anemia complementation group N [RCV000318539]|Hereditary breast ovarian cancer syndrome [RCV001030647]|Hereditary cancer-predisposing syndrome [RCV000116087]|Malignant tumor of breast [RCV001356207]|PALB2-related disorder [RCV004529947]|not provided [RCV000656936]|not specified [RCV000121758] Chr16:23629645 [GRCh38]
Chr16:23640966 [GRCh37]
Chr16:16p12.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_024675.4(PALB2):c.2807T>C (p.Leu936Ser) single nucleotide variant Familial cancer of breast [RCV001317021]|Hereditary cancer-predisposing syndrome [RCV004943756]|not provided [RCV000116091] Chr16:23624036 [GRCh38]
Chr16:23635357 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2846G>A (p.Cys949Tyr) single nucleotide variant Familial cancer of breast [RCV000635686]|Fanconi anemia complementation group N [RCV005016400]|Hereditary cancer-predisposing syndrome [RCV001804846]|not provided [RCV000656938]|not specified [RCV000121761] Chr16:23623119 [GRCh38]
Chr16:23634440 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_024675.4(PALB2):c.2897T>C (p.Ile966Thr) single nucleotide variant Breast-ovarian cancer, familial, susceptibility to, 5 [RCV004760383]|Familial cancer of breast [RCV000204848]|Familial cancer of breast [RCV000764045]|Hereditary cancer-predisposing syndrome [RCV000116094]|Triple-negative breast cancer [RCV000202384]|not provided [RCV000212819]|not specified [RCV002267857] Chr16:23623068 [GRCh38]
Chr16:23634389 [GRCh37]
Chr16:16p12.2		 likely pathogenic|association|conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.3125C>G (p.Thr1042Ser) single nucleotide variant Familial cancer of breast [RCV000706273]|Hereditary cancer-predisposing syndrome [RCV000561324]|not provided [RCV000589774] Chr16:23614080 [GRCh38]
Chr16:23625401 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.3132A>C (p.Gln1044His) single nucleotide variant Familial cancer of breast [RCV000635880]|Hereditary cancer-predisposing syndrome [RCV000454267]|not provided [RCV000116098] Chr16:23614073 [GRCh38]
Chr16:23625394 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.3175G>A (p.Val1059Ile) single nucleotide variant Familial cancer of breast [RCV000812526]|Hereditary cancer-predisposing syndrome [RCV001018977]|not provided [RCV000116100] Chr16:23614030 [GRCh38]
Chr16:23625351 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.3229C>G (p.Pro1077Ala) single nucleotide variant Familial cancer of breast [RCV000821981]|Hereditary cancer-predisposing syndrome [RCV001019319]|not provided [RCV000116101] Chr16:23607985 [GRCh38]
Chr16:23619306 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.3437A>G (p.Gln1146Arg) single nucleotide variant not provided [RCV000116105] Chr16:23603583 [GRCh38]
Chr16:23614904 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.3456dup (p.Pro1153fs) duplication Familial cancer of breast [RCV000200796]|Hereditary breast ovarian cancer syndrome [RCV003155917]|Hereditary cancer-predisposing syndrome [RCV000116106]|PALB2-related cancer predisposition [RCV005359105]|PALB2-related disorder [RCV004528808]|not provided [RCV000133488] Chr16:23603563..23603564 [GRCh38]
Chr16:23614884..23614885 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic
NM_024675.4(PALB2):c.353T>C (p.Ile118Thr) single nucleotide variant Familial cancer of breast [RCV000211074]|Hereditary cancer-predisposing syndrome [RCV000116107]|not provided [RCV000212774]|not specified [RCV002222397] Chr16:23636193 [GRCh38]
Chr16:23647514 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.3549C>A (p.Tyr1183Ter) single nucleotide variant Breast-ovarian cancer, familial, susceptibility to, 1 [RCV003493446]|Familial cancer of breast [RCV000200012]|Familial cancer of breast [RCV000763376]|Fanconi anemia complementation group N [RCV005394394]|Hereditary breast ovarian cancer syndrome [RCV000587765]|Hereditary cancer-predisposing syndrome [RCV000116108]|PALB2-related disorder [RCV004528809]|not provided [RCV000212831] Chr16:23603471 [GRCh38]
Chr16:23614792 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.551G>C (p.Ser184Thr) single nucleotide variant Familial cancer of breast [RCV000559113]|Familial cancer of breast [RCV002498499]|Hereditary cancer-predisposing syndrome [RCV001024216]|not provided [RCV000116109] Chr16:23635995 [GRCh38]
Chr16:23647316 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.571C>G (p.Pro191Ala) single nucleotide variant Familial cancer of breast [RCV000211086]|Hereditary cancer-predisposing syndrome [RCV000774642]|not provided [RCV000116110] Chr16:23635975 [GRCh38]
Chr16:23647296 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.856C>T (p.Pro286Ser) single nucleotide variant Familial cancer of breast [RCV000410687]|Fanconi anemia complementation group N [RCV005394395]|Hereditary cancer-predisposing syndrome [RCV000567956]|not provided [RCV000766543]|not specified [RCV001174832] Chr16:23635690 [GRCh38]
Chr16:23647011 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.906CCT[1] (p.Leu304del) microsatellite Familial cancer of breast [RCV000535050]|Fanconi anemia complementation group N [RCV005394396]|Hereditary cancer-predisposing syndrome [RCV000573937]|not provided [RCV000116114] Chr16:23635635..23635637 [GRCh38]
Chr16:23646956..23646958 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.928A>G (p.Ser310Gly) single nucleotide variant Breast and/or ovarian cancer [RCV003149811]|Familial cancer of breast [RCV000200242]|Hereditary cancer-predisposing syndrome [RCV000116115]|Malignant tumor of breast [RCV001354315]|PALB2-related disorder [RCV004528810]|not provided [RCV000212782]|not specified [RCV001290583] Chr16:23635618 [GRCh38]
Chr16:23646939 [GRCh37]
Chr16:16p12.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.949A>C (p.Thr317Pro) single nucleotide variant Familial cancer of breast [RCV000472765]|Familial cancer of breast [RCV002483191]|Hereditary cancer-predisposing syndrome [RCV000116116]|not provided [RCV000212783] Chr16:23635597 [GRCh38]
Chr16:23646918 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.1188C>T (p.Cys396=) single nucleotide variant Familial cancer of breast [RCV000123329]|Hereditary cancer-predisposing syndrome [RCV000163124]|not provided [RCV001704046]|not specified [RCV000420289] Chr16:23635358 [GRCh38]
Chr16:23646679 [GRCh37]
Chr16:16p12.2		 benign|likely benign|uncertain significance
NM_024675.4(PALB2):c.1230T>C (p.Val410=) single nucleotide variant Familial cancer of breast [RCV000123330]|Hereditary cancer-predisposing syndrome [RCV002362752] Chr16:23635316 [GRCh38]
Chr16:23646637 [GRCh37]
Chr16:16p12.2		 benign|likely benign|uncertain significance
NM_024675.4(PALB2):c.12T>C (p.Pro4=) single nucleotide variant Familial cancer of breast [RCV000123332]|Fanconi anemia complementation group N [RCV001121824]|Hereditary cancer-predisposing syndrome [RCV000160826]|not provided [RCV000858740]|not specified [RCV000212765] Chr16:23641146 [GRCh38]
Chr16:23652467 [GRCh37]
Chr16:16p12.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
NM_024675.4(PALB2):c.1637T>C (p.Val546Ala) single nucleotide variant Familial cancer of breast [RCV000123333]|Familial cancer of breast [RCV002492444]|Hereditary cancer-predisposing syndrome [RCV000215046]|PALB2-related disorder [RCV004739425]|not provided [RCV000589758] Chr16:23634909 [GRCh38]
Chr16:23646230 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.2087C>T (p.Thr696Met) single nucleotide variant Breast and/or ovarian cancer [RCV003492552]|Familial cancer of breast [RCV000123336]|Fanconi anemia complementation group N [RCV005016426]|Hereditary cancer-predisposing syndrome [RCV000132543]|PALB2-related disorder [RCV004530058]|not provided [RCV001030277] Chr16:23630067 [GRCh38]
Chr16:23641388 [GRCh37]
Chr16:16p12.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.2167_2168del (p.Met723fs) deletion Breast neoplasm [RCV000677892]|Breast-ovarian cancer, familial, susceptibility to, 5 [RCV003315410]|Familial cancer of breast [RCV000123337]|Familial cancer of breast [RCV002492445]|Fanconi anemia complementation group N [RCV001336119]|Fanconi anemia complementation group N [RCV004796027]|Gastric cancer [RCV003162563]|Hereditary breast ovarian cancer syndrome [RCV000589589]|Hereditary cancer-predisposing syndrome [RCV000129400]|Malignant tumor of pancreas [RCV000677893]|not provided [RCV000133478] Chr16:23629986..23629987 [GRCh38]
Chr16:23641307..23641308 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.2289G>C (p.Leu763Phe) single nucleotide variant Breast and/or ovarian cancer [RCV001798407]|Familial cancer of breast [RCV000123338]|Hereditary cancer-predisposing syndrome [RCV000130052]|Malignant tumor of breast [RCV001357632]|PALB2-related disorder [RCV004528842]|not provided [RCV000587948]|not specified [RCV000212808] Chr16:23629865 [GRCh38]
Chr16:23641186 [GRCh37]
Chr16:16p12.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.2571G>A (p.Leu857=) single nucleotide variant Familial cancer of breast [RCV000123339]|Fanconi anemia complementation group N [RCV001535717]|Hereditary cancer-predisposing syndrome [RCV000560973]|not provided [RCV000486288] Chr16:23629219 [GRCh38]
Chr16:23640540 [GRCh37]
Chr16:16p12.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_024675.4(PALB2):c.2607C>T (p.Ser869=) single nucleotide variant Breast and/or ovarian cancer [RCV003149845]|Familial cancer of breast [RCV000123340]|Hereditary cancer-predisposing syndrome [RCV000127296]|PALB2-related disorder [RCV004528843]|not provided [RCV000587582]|not specified [RCV000212814] Chr16:23626377 [GRCh38]
Chr16:23637698 [GRCh37]
Chr16:16p12.2		 benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_024675.4(PALB2):c.2753C>A (p.Pro918Gln) single nucleotide variant Familial cancer of breast [RCV000123341]|Hereditary cancer-predisposing syndrome [RCV000220315]|PALB2-related disorder [RCV004739426]|not provided [RCV001546031]|not specified [RCV000507163] Chr16:23624090 [GRCh38]
Chr16:23635411 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.3366C>T (p.Asp1122=) single nucleotide variant Familial cancer of breast [RCV000123342]|Hereditary cancer-predisposing syndrome [RCV000164965]|PALB2-related disorder [RCV004530059]|not provided [RCV003422008]|not specified [RCV000430555] Chr16:23603654 [GRCh38]
Chr16:23614975 [GRCh37]
Chr16:16p12.2		 benign|likely benign|uncertain significance
NM_024675.4(PALB2):c.722A>G (p.Asn241Ser) single nucleotide variant Familial cancer of breast [RCV000123343]|Hereditary cancer-predisposing syndrome [RCV000131587] Chr16:23635824 [GRCh38]
Chr16:23647145 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.769G>A (p.Gly257Ser) single nucleotide variant Breast-ovarian cancer, familial, susceptibility to, 5 [RCV003492553]|Familial cancer of breast [RCV000123344]|Fanconi anemia complementation group N [RCV005394457]|Hereditary cancer-predisposing syndrome [RCV000165945]|PALB2-related disorder [RCV004530060]|not provided [RCV004589611]|not specified [RCV003226206] Chr16:23635777 [GRCh38]
Chr16:23647098 [GRCh37]
Chr16:16p12.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.1863T>C (p.Pro621=) single nucleotide variant Familial cancer of breast [RCV000123334]|Hereditary cancer-predisposing syndrome [RCV000563042]|not specified [RCV000613279] Chr16:23630291 [GRCh38]
Chr16:23641612 [GRCh37]
Chr16:16p12.2		 benign|likely benign|uncertain significance
NM_024675.4(PALB2):c.2006del (p.Glu669fs) deletion Familial cancer of breast [RCV001068436]|Hereditary cancer-predisposing syndrome [RCV000160806]|not provided [RCV000497295]|not specified [RCV000121754] Chr16:23630148 [GRCh38]
Chr16:23641469 [GRCh37]
Chr16:16p12.2		 pathogenic|not provided
NM_024675.4(PALB2):c.2456A>G (p.Lys819Arg) single nucleotide variant Familial cancer of breast [RCV000410682]|Hereditary cancer-predisposing syndrome [RCV000129773]|not provided [RCV000657026]|not specified [RCV000121755] Chr16:23629698 [GRCh38]
Chr16:23641019 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_024675.4(PALB2):c.2258G>A (p.Arg753Gln) single nucleotide variant Familial cancer of breast [RCV000195647]|Hereditary cancer-predisposing syndrome [RCV000561765]|not provided [RCV000588075]|not specified [RCV000121757] Chr16:23629896 [GRCh38]
Chr16:23641217 [GRCh37]
Chr16:16p12.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_024675.4(PALB2):c.1882_1890del (p.Lys628_Cys630del) deletion Familial cancer of breast [RCV000123335]|Familial cancer of breast [RCV002505071]|Hereditary cancer-predisposing syndrome [RCV000573890]|not provided [RCV001284029]|not specified [RCV000121753] Chr16:23630264..23630272 [GRCh38]
Chr16:23641585..23641593 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_024675.4(PALB2):c.1054G>C (p.Glu352Gln) single nucleotide variant Familial cancer of breast [RCV000119209]|Hereditary cancer-predisposing syndrome [RCV000130853]|Pancreatic cancer, susceptibility to, 3 [RCV001356550]|not provided [RCV000858055] Chr16:23635492 [GRCh38]
Chr16:23646813 [GRCh37]
Chr16:16p12.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.2163A>C (p.Thr721=) single nucleotide variant Familial cancer of breast [RCV000635963]|Hereditary cancer-predisposing syndrome [RCV000221801]|not provided [RCV001579556]|not specified [RCV000127293] Chr16:23629991 [GRCh38]
Chr16:23641312 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.2742C>T (p.Phe914=) single nucleotide variant Breast-ovarian cancer, familial, susceptibility to, 5 [RCV003315853]|Familial cancer of breast [RCV000196595]|Familial pancreatic carcinoma [RCV005359186]|Fanconi anemia complementation group N [RCV000357789]|Hereditary cancer-predisposing syndrome [RCV000127297]|not provided [RCV000858526]|not specified [RCV000212816] Chr16:23626242 [GRCh38]
Chr16:23637563 [GRCh37]
Chr16:16p12.2		 pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_024675.4(PALB2):c.2834+18A>T single nucleotide variant Breast-ovarian cancer, familial, susceptibility to, 5 [RCV003315854]|Familial cancer of breast [RCV000410164]|Hereditary breast ovarian cancer syndrome [RCV002225410]|Hereditary cancer-predisposing syndrome [RCV000580996]|not provided [RCV000679767]|not specified [RCV000127299] Chr16:23623991 [GRCh38]
Chr16:23635312 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.1281T>C (p.Ala427=) single nucleotide variant Familial cancer of breast [RCV000206142]|Familial cancer of breast [RCV002498627]|Hereditary breast ovarian cancer syndrome [RCV002225411]|Hereditary cancer-predisposing syndrome [RCV000127308]|not provided [RCV001800420]|not specified [RCV000212787] Chr16:23635265 [GRCh38]
Chr16:23646586 [GRCh37]
Chr16:16p12.2		 benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_024675.4(PALB2):c.1904T>C (p.Val635Ala) single nucleotide variant not provided [RCV001310325] Chr16:23630250 [GRCh38]
Chr16:23641571 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1383T>G (p.Ser461Arg) single nucleotide variant Familial cancer of breast [RCV001889281]|Hereditary cancer-predisposing syndrome [RCV002386668] Chr16:23635163 [GRCh38]
Chr16:23646484 [GRCh37]
Chr16:16p12.2		 likely benign|uncertain significance
NM_024675.4(PALB2):c.2586+6A>G single nucleotide variant Familial cancer of breast [RCV001303616] Chr16:23629198 [GRCh38]
Chr16:23640519 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.3512del (p.Leu1171fs) deletion Familial cancer of breast [RCV003219179] Chr16:23603508 [GRCh38]
Chr16:23614829 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2563del (p.Leu855fs) deletion Familial cancer of breast [RCV003449834]|not provided [RCV001284197] Chr16:23629227 [GRCh38]
Chr16:23640548 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.2748+1G>C single nucleotide variant Breast-ovarian cancer, familial, susceptibility to, 5 [RCV003315425]|Familial cancer of breast [RCV000409294]|Hereditary cancer-predisposing syndrome [RCV001176291]|not provided [RCV003477909] Chr16:23626235 [GRCh38]
Chr16:23637556 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic
NM_024675.4(PALB2):c.3202-1G>A single nucleotide variant Familial cancer of breast [RCV000409659]|Familial cancer of breast [RCV002481267]|Hereditary cancer-predisposing syndrome [RCV001019201]|not provided [RCV003493565] Chr16:23608013 [GRCh38]
Chr16:23619334 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic
NM_024675.4(PALB2):c.1108C>T (p.Gln370Ter) single nucleotide variant Familial cancer of breast [RCV001030200]|Hereditary cancer-predisposing syndrome [RCV001525190]|not provided [RCV000133472] Chr16:23635438 [GRCh38]
Chr16:23646759 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_024675.4(PALB2):c.1431del (p.Ser478fs) deletion Familial cancer of breast [RCV001030225]|not provided [RCV000133473] Chr16:23635115 [GRCh38]
Chr16:23646436 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.156del (p.Glu53fs) deletion Familial cancer of breast [RCV000461816]|Hereditary cancer-predisposing syndrome [RCV000566566]|not provided [RCV000133474] Chr16:23637905 [GRCh38]
Chr16:23649226 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic
NM_024675.4(PALB2):c.1571C>G (p.Ser524Ter) single nucleotide variant Familial cancer of breast [RCV000701075]|Hereditary cancer-predisposing syndrome [RCV000454158]|not provided [RCV000133475] Chr16:23634975 [GRCh38]
Chr16:23646296 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.1591_1600del (p.Pro532fs) deletion Familial cancer of breast [RCV001030237]|Hereditary cancer-predisposing syndrome [RCV004658974]|not provided [RCV000133476] Chr16:23634946..23634955 [GRCh38]
Chr16:23646267..23646276 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.2074C>T (p.Gln692Ter) single nucleotide variant Familial cancer of breast [RCV001030275]|Hereditary breast ovarian cancer syndrome [RCV003155925]|Hereditary cancer-predisposing syndrome [RCV000562385]|not provided [RCV000133477] Chr16:23630080 [GRCh38]
Chr16:23641401 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic
NM_024675.4(PALB2):c.2787_2788del (p.Tyr929_Asn930delinsTer) microsatellite Familial cancer of breast [RCV001030343]|Hereditary cancer-predisposing syndrome [RCV005401334]|not provided [RCV000133480] Chr16:23624055..23624056 [GRCh38]
Chr16:23635376..23635377 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.2834+1G>T single nucleotide variant Familial cancer of breast [RCV000411304]|Familial cancer of breast [RCV000763377]|Hereditary cancer-predisposing syndrome [RCV000567638]|not provided [RCV000133481] Chr16:23624008 [GRCh38]
Chr16:23635329 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_024675.4(PALB2):c.2888del (p.Ser963fs) deletion Familial cancer of breast [RCV000821314]|Hereditary cancer-predisposing syndrome [RCV002433626]|not provided [RCV000133482] Chr16:23623077 [GRCh38]
Chr16:23634398 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.3(PALB2):c.2919_2920delAA (p.Lys974Glufs) deletion not provided [RCV000133483] Chr16:23623045..23623046 [GRCh38]
Chr16:23634366..23634367 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.3(PALB2):c.3022delC (p.Pro1009Leufs) deletion not provided [RCV000133484] Chr16:23621453 [GRCh38]
Chr16:23632774 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.3201+1G>C single nucleotide variant Familial cancer of breast [RCV000230297]|Hereditary cancer-predisposing syndrome [RCV000164723]|not provided [RCV000133485] Chr16:23614003 [GRCh38]
Chr16:23625324 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|no classifications from unflagged records
NM_024675.3(PALB2):c.3423_3426delCTTA (p.Leu1142Phefs) deletion not provided [RCV000133486] Chr16:23603594..23603597 [GRCh38]
Chr16:23614915..23614918 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.3426dup (p.Leu1143fs) duplication Familial cancer of breast [RCV000195604]|Hereditary cancer-predisposing syndrome [RCV000454197]|not provided [RCV000133487] Chr16:23603593..23603594 [GRCh38]
Chr16:23614914..23614915 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.3497_3498del (p.Gly1166fs) deletion Familial cancer of breast [RCV001030420]|not provided [RCV000133489] Chr16:23603522..23603523 [GRCh38]
Chr16:23614843..23614844 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.3(PALB2):c.3504_3505delCT (p.His1170Phefs) deletion not provided [RCV000133490] Chr16:23603515..23603516 [GRCh38]
Chr16:23614836..23614837 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.3143del (p.Lys1048fs) deletion Breast neoplasm [RCV000504602]|Familial cancer of breast [RCV003449391] Chr16:23614062 [GRCh38]
Chr16:23625383 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.643G>T (p.Glu215Ter) single nucleotide variant Breast neoplasm [RCV000504603]|Familial cancer of breast [RCV001385716] Chr16:23635903 [GRCh38]
Chr16:23647224 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.2480_2481del (p.Thr827fs) microsatellite Breast neoplasm [RCV000504613]|Familial cancer of breast [RCV000701403]|Gastric cancer [RCV003159604]|Hereditary cancer-predisposing syndrome [RCV001015644]|not provided [RCV001008183] Chr16:23629673..23629674 [GRCh38]
Chr16:23640994..23640995 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.451C>T (p.Gln151Ter) single nucleotide variant Familial cancer of breast [RCV000456418]|Hereditary breast ovarian cancer syndrome [RCV004586565]|Hereditary cancer-predisposing syndrome [RCV000576041]|not provided [RCV000133491] Chr16:23636095 [GRCh38]
Chr16:23647416 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic
NM_024675.4(PALB2):c.48G>A (p.Lys16=) single nucleotide variant Familial cancer of breast [RCV001030105]|Familial cancer of breast [RCV004796039]|Hereditary cancer-predisposing syndrome [RCV000566830]|not provided [RCV000133492] Chr16:23641110 [GRCh38]
Chr16:23652431 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.886del (p.Lys295_Met296insTer) deletion Familial cancer of breast [RCV000822164]|Hereditary cancer-predisposing syndrome [RCV002371980]|not provided [RCV000133493] Chr16:23635660 [GRCh38]
Chr16:23646981 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.956_962del (p.Ser318_Ser319insTer) deletion Familial cancer of breast [RCV001030190]|not provided [RCV000133494] Chr16:23635584..23635590 [GRCh38]
Chr16:23646905..23646911 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.2216C>T (p.Pro739Leu) single nucleotide variant Familial cancer of breast [RCV001871761]|Familial cancer of breast [RCV002486214] Chr16:23629938 [GRCh38]
Chr16:23641259 [GRCh37]
Chr16:16p12.2		 uncertain significance
GRCh38/hg38 16p13.3-11.2(chr16:4644892-29170820)x3 copy number gain See cases [RCV000133809] Chr16:4644892..29170820 [GRCh38]
Chr16:4694893..29182141 [GRCh37]
Chr16:4634894..29089642 [NCBI36]
Chr16:16p13.3-11.2		 pathogenic
NM_024675.4(PALB2):c.3201+1G>T single nucleotide variant Familial cancer of breast [RCV001206798]|Hereditary cancer-predisposing syndrome [RCV000130058] Chr16:23614003 [GRCh38]
Chr16:23625324 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic
NM_024675.4(PALB2):c.1037_1041del (p.Lys346fs) deletion Breast-ovarian cancer, familial, susceptibility to, 5 [RCV005365022]|Familial cancer of breast [RCV000205410]|Fanconi anemia complementation group N [RCV001781469]|Fanconi anemia complementation group N [RCV004796029]|Hereditary cancer-predisposing syndrome [RCV000130093]|not provided [RCV000133471] Chr16:23635505..23635509 [GRCh38]
Chr16:23646826..23646830 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.1955G>A (p.Ser652Asn) single nucleotide variant Endometrial carcinoma [RCV001358211]|Familial cancer of breast [RCV000226926]|Fanconi anemia complementation group N [RCV000302799]|Hereditary breast ovarian cancer syndrome [RCV001030649]|Hereditary cancer-predisposing syndrome [RCV000130094]|not provided [RCV000842453]|not specified [RCV001030271] Chr16:23630199 [GRCh38]
Chr16:23641520 [GRCh37]
Chr16:16p12.2		 likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.1364A>G (p.Asn455Ser) single nucleotide variant Familial cancer of breast [RCV000409652]|Fanconi anemia complementation group N [RCV001116859]|Hereditary cancer-predisposing syndrome [RCV000130104]|not provided [RCV000212792] Chr16:23635182 [GRCh38]
Chr16:23646503 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.3044C>T (p.Thr1015Ile) single nucleotide variant Familial cancer of breast [RCV000689784]|Hereditary cancer-predisposing syndrome [RCV000130130]|not provided [RCV000236113]|not specified [RCV000781686] Chr16:23621431 [GRCh38]
Chr16:23632752 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.2964del (p.Gln988_Val989insTer) deletion Breast cancer, susceptibility to [RCV000500842]|Familial cancer of breast [RCV000476828]|Familial cancer of breast [RCV002492500]|Hereditary cancer-predisposing syndrome [RCV000130137]|not provided [RCV000481028] Chr16:23623001 [GRCh38]
Chr16:23634322 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.1042C>A (p.Gln348Lys) single nucleotide variant Chordoma [RCV002266924]|Familial cancer of breast [RCV000232741]|Hereditary cancer-predisposing syndrome [RCV000130172]|PALB2-related disorder [RCV004739441]|not provided [RCV000589687]|not specified [RCV001251061] Chr16:23635504 [GRCh38]
Chr16:23646825 [GRCh37]
Chr16:16p12.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.1160C>T (p.Ser387Phe) single nucleotide variant Familial cancer of breast [RCV000540249]|Hereditary cancer-predisposing syndrome [RCV000130177] Chr16:23635386 [GRCh38]
Chr16:23646707 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2104A>C (p.Ile702Leu) single nucleotide variant Familial cancer of breast [RCV001857445]|Hereditary cancer-predisposing syndrome [RCV000130218] Chr16:23630050 [GRCh38]
Chr16:23641371 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.3267_3268del (p.Phe1090fs) microsatellite Familial cancer of breast [RCV000797316]|Hereditary cancer-predisposing syndrome [RCV000130222] Chr16:23607946..23607947 [GRCh38]
Chr16:23619267..23619268 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.-2C>T single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000130240]|not provided [RCV001357620] Chr16:23641159 [GRCh38]
Chr16:23652480 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1756G>A (p.Asp586Asn) single nucleotide variant Breast and/or ovarian cancer [RCV001798444]|Familial cancer of breast [RCV000411835]|Familial cancer of breast [RCV000764051]|Hereditary cancer-predisposing syndrome [RCV000130326]|not provided [RCV000481375] Chr16:23630398 [GRCh38]
Chr16:23641719 [GRCh37]
Chr16:16p12.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.3542T>C (p.Phe1181Ser) single nucleotide variant Familial cancer of breast [RCV001849933]|Hereditary cancer-predisposing syndrome [RCV000130351]|not provided [RCV000235682] Chr16:23603478 [GRCh38]
Chr16:23614799 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.563C>G (p.Ala188Gly) single nucleotide variant Familial cancer of breast [RCV000168329]|Hereditary cancer-predisposing syndrome [RCV000130368]|not provided [RCV004791275]|not specified [RCV001818311] Chr16:23635983 [GRCh38]
Chr16:23647304 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.72G>C (p.Leu24Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000130387]|not provided [RCV004998268] Chr16:23638106 [GRCh38]
Chr16:23649427 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.424A>T (p.Lys142Ter) single nucleotide variant Breast cancer, susceptibility to [RCV002251434]|Familial cancer of breast [RCV000476449]|Hereditary cancer-predisposing syndrome [RCV000130421]|Malignant tumor of breast [RCV001357166]|PALB2-related disorder [RCV003387508]|not provided [RCV000412725] Chr16:23636122 [GRCh38]
Chr16:23647443 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.3146T>C (p.Met1049Thr) single nucleotide variant Breast-ovarian cancer, familial, susceptibility to, 5 [RCV003389456]|Familial cancer of breast [RCV000204730]|Familial cancer of breast [RCV002505109]|Fanconi anemia complementation group N [RCV003444205]|Hereditary cancer-predisposing syndrome [RCV000130431]|Malignant tumor of breast [RCV001355887]|PALB2-related disorder [RCV004544294]|not provided [RCV000482622]|not specified [RCV001194140] Chr16:23614059 [GRCh38]
Chr16:23625380 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.3476G>A (p.Trp1159Ter) single nucleotide variant Familial cancer of breast [RCV003453075]|Hereditary cancer-predisposing syndrome [RCV000130518] Chr16:23603544 [GRCh38]
Chr16:23614865 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.2233A>G (p.Lys745Glu) single nucleotide variant Familial cancer of breast [RCV000232204]|Hereditary cancer-predisposing syndrome [RCV000130548]|not provided [RCV002247508] Chr16:23629921 [GRCh38]
Chr16:23641242 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.599del (p.Leu199_Leu200insTer) deletion Familial cancer of breast [RCV000464043]|Familial cancer of breast [RCV002505111]|Hereditary breast ovarian cancer syndrome [RCV005237567]|Hereditary cancer-predisposing syndrome [RCV000130577]|PALB2-related disorder [RCV004739445]|not provided [RCV000235246] Chr16:23635947 [GRCh38]
Chr16:23647268 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.2521A>G (p.Thr841Ala) single nucleotide variant Familial cancer of breast [RCV000470365]|Hereditary cancer-predisposing syndrome [RCV000130589] Chr16:23629269 [GRCh38]
Chr16:23640590 [GRCh37]
Chr16:16p12.2		 likely benign|uncertain significance
NM_024675.4(PALB2):c.3449T>G (p.Leu1150Arg) single nucleotide variant Familial cancer of breast [RCV000211075]|Hereditary cancer-predisposing syndrome [RCV000130657]|PALB2-related disorder [RCV004724828]|not provided [RCV000588260]|not specified [RCV002281957] Chr16:23603571 [GRCh38]
Chr16:23614892 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1748T>G (p.Leu583Trp) single nucleotide variant Breast-ovarian cancer, familial, susceptibility to, 5 [RCV005365029]|Familial cancer of breast [RCV000198999]|Familial cancer of breast [RCV002483264]|Hereditary cancer-predisposing syndrome [RCV000130719]|not provided [RCV000235282]|not specified [RCV002222405] Chr16:23630406 [GRCh38]
Chr16:23641727 [GRCh37]
Chr16:16p12.2		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.3307G>C (p.Val1103Leu) single nucleotide variant Breast and/or ovarian cancer [RCV003149901]|Familial cancer of breast [RCV000226292]|Familial cancer of breast [RCV000764042]|Hereditary cancer-predisposing syndrome [RCV000130728]|Ovarian cancer [RCV003153422]|not provided [RCV000483048]|not specified [RCV001194142] Chr16:23607907 [GRCh38]
Chr16:23619228 [GRCh37]
Chr16:16p12.2		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.557A>T (p.Asn186Ile) single nucleotide variant Breast-ovarian cancer, familial, susceptibility to, 5 [RCV003315411]|Familial cancer of breast [RCV000197454]|Familial cancer of breast [RCV002478396]|Hereditary cancer-predisposing syndrome [RCV000130756]|not provided [RCV000588642]|not specified [RCV004595933] Chr16:23635989 [GRCh38]
Chr16:23647310 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.3257G>A (p.Arg1086Gln) single nucleotide variant Familial cancer of breast [RCV000203792]|Fanconi anemia complementation group N [RCV005016447]|Hereditary breast ovarian cancer syndrome [RCV002225436]|Hereditary cancer-predisposing syndrome [RCV000130835]|PALB2-related disorder [RCV004739448]|not provided [RCV000590502]|not specified [RCV000855603] Chr16:23607957 [GRCh38]
Chr16:23619278 [GRCh37]
Chr16:16p12.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.1189A>T (p.Thr397Ser) single nucleotide variant Breast and/or ovarian cancer [RCV003149904]|Breast-ovarian cancer, familial, susceptibility to, 5 [RCV005359248]|Familial cancer of breast [RCV000205533]|Familial ovarian cancer [RCV003447500]|Hereditary cancer-predisposing syndrome [RCV000130855]|Inherited breast cancer and ovarian cancer [RCV004584197]|not provided [RCV000586638]|not specified [RCV002267878] Chr16:23635357 [GRCh38]
Chr16:23646678 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.1127G>C (p.Ser376Thr) single nucleotide variant Familial cancer of breast [RCV000465244]|Hereditary cancer-predisposing syndrome [RCV000130860]|not provided [RCV003159104] Chr16:23635419 [GRCh38]
Chr16:23646740 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.2947A>T (p.Thr983Ser) single nucleotide variant Familial cancer of breast [RCV000206313]|Hereditary cancer-predisposing syndrome [RCV000130889]|not provided [RCV000522868] Chr16:23623018 [GRCh38]
Chr16:23634339 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.734C>T (p.Ala245Val) single nucleotide variant Breast-ovarian cancer, familial, susceptibility to, 5 [RCV003315412]|Familial cancer of breast [RCV000200032]|Fanconi anemia complementation group N [RCV005394483]|Hereditary cancer-predisposing syndrome [RCV000130900]|not provided [RCV000483902]|not specified [RCV001030168] Chr16:23635812 [GRCh38]
Chr16:23647133 [GRCh37]
Chr16:16p12.2		 benign|likely benign|uncertain significance
NM_024675.4(PALB2):c.3492G>T (p.Trp1164Cys) single nucleotide variant Breast-ovarian cancer, familial, susceptibility to, 5 [RCV004551258]|Familial cancer of breast [RCV000412141]|Hereditary cancer-predisposing syndrome [RCV000130901]|not provided [RCV000487310] Chr16:23603528 [GRCh38]
Chr16:23614849 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.850dup (p.Thr284fs) duplication Hereditary cancer-predisposing syndrome [RCV000130929] Chr16:23635695..23635696 [GRCh38]
Chr16:23647016..23647017 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.584T>G (p.Ile195Arg) single nucleotide variant Familial cancer of breast [RCV000635801]|Hereditary cancer-predisposing syndrome [RCV000130977]|not provided [RCV000212777] Chr16:23635962 [GRCh38]
Chr16:23647283 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.3(PALB2):c.3286_3289delAACCins8 indel Hereditary cancer-predisposing syndrome [RCV000131265] Chr16:23607925..23607928 [GRCh38]
Chr16:23619246..23619249 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.3(PALB2):c.833_834delTAinsAT (p.Leu278His) indel Neoplastic Syndromes, Hereditary [RCV000131311] Chr16:23635712..23635713 [GRCh38]
Chr16:23647033..23647034 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1481C>T (p.Thr494Ile) single nucleotide variant Familial cancer of breast [RCV001045768]|Hereditary cancer-predisposing syndrome [RCV000131338] Chr16:23635065 [GRCh38]
Chr16:23646386 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2027T>C (p.Ile676Thr) single nucleotide variant Familial cancer of breast [RCV001084972]|Hereditary breast ovarian cancer syndrome [RCV005359261]|Hereditary cancer-predisposing syndrome [RCV000131362]|not provided [RCV000589092]|not specified [RCV000417393] Chr16:23630127 [GRCh38]
Chr16:23641448 [GRCh37]
Chr16:16p12.2		 benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_024675.4(PALB2):c.2619T>G (p.Ser873Arg) single nucleotide variant Familial cancer of breast [RCV000199659]|Familial ovarian cancer [RCV001357530]|Hereditary cancer-predisposing syndrome [RCV000131395]|not provided [RCV001281710]|not specified [RCV000507756] Chr16:23626365 [GRCh38]
Chr16:23637686 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.2257C>T (p.Arg753Ter) single nucleotide variant Breast and/or ovarian cancer [RCV003492624]|Breast-ovarian cancer, familial, susceptibility to, 5 [RCV004597749]|Familial cancer of breast [RCV000466579]|Fanconi anemia complementation group N [RCV001781472]|Gastric cancer [RCV003162588]|Hereditary breast ovarian cancer syndrome [RCV000824730]|Hereditary cancer-predisposing syndrome [RCV000131502]|Malignant tumor of breast [RCV001264577]|PALB2-related disorder [RCV004739453]|not provided [RCV000236519] Chr16:23629897 [GRCh38]
Chr16:23641218 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.226del (p.Ile76fs) deletion Familial cancer of breast [RCV000411345]|Familial cancer of breast [RCV002498645]|Hereditary cancer-predisposing syndrome [RCV000131508]|Pancreatic cancer, susceptibility to, 3 [RCV001258080]|not provided [RCV000254673] Chr16:23636320 [GRCh38]
Chr16:23647641 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_024675.4(PALB2):c.1258C>T (p.Gln420Ter) single nucleotide variant Familial cancer of breast [RCV000529684]|Hereditary cancer-predisposing syndrome [RCV000131515]|not provided [RCV000657737] Chr16:23635288 [GRCh38]
Chr16:23646609 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.18G>T (p.Gly6=) single nucleotide variant Familial cancer of breast [RCV000557471]|Hereditary breast ovarian cancer syndrome [RCV002265620]|Hereditary cancer-predisposing syndrome [RCV000131549]|not provided [RCV000432017] Chr16:23641140 [GRCh38]
Chr16:23652461 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.3320T>C (p.Leu1107Pro) single nucleotide variant Breast-ovarian cancer, familial, susceptibility to, 5 [RCV003315413]|Familial cancer of breast [RCV000204289]|Fanconi anemia complementation group N [RCV005394489]|Hereditary cancer-predisposing syndrome [RCV000131597]|not provided [RCV000235261]|not specified [RCV001818326] Chr16:23607894 [GRCh38]
Chr16:23619215 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.10C>T (p.Pro4Ser) single nucleotide variant Familial cancer of breast [RCV000205368]|Hereditary cancer-predisposing syndrome [RCV000131600]|not provided [RCV004696852] Chr16:23641148 [GRCh38]
Chr16:23652469 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.997A>G (p.Thr333Ala) single nucleotide variant Familial cancer of breast [RCV000531244]|Hereditary cancer-predisposing syndrome [RCV000131627] Chr16:23635549 [GRCh38]
Chr16:23646870 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.3296C>G (p.Thr1099Arg) single nucleotide variant Breast-ovarian cancer, familial, susceptibility to, 5 [RCV005359278]|Familial cancer of breast [RCV000410212]|Familial cancer of breast [RCV002478400]|Fanconi anemia complementation group N [RCV001294230]|Hereditary breast ovarian cancer syndrome [RCV005411346]|Hereditary cancer-predisposing syndrome [RCV000131652]|not provided [RCV000657014]|not specified [RCV000235868] Chr16:23607918 [GRCh38]
Chr16:23619239 [GRCh37]
Chr16:16p12.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.661_662delinsTA (p.Val221Ter) indel Familial cancer of breast [RCV000635615]|Hereditary cancer-predisposing syndrome [RCV000131730]|Malignant tumor of breast [RCV001355806]|not provided [RCV000485597] Chr16:23635884..23635885 [GRCh38]
Chr16:23647205..23647206 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.3350+5G>A single nucleotide variant Breast-ovarian cancer, familial, susceptibility to, 5 [RCV005359282]|Familial cancer of breast [RCV000526519]|Fanconi anemia complementation group N [RCV004796031]|Hereditary breast ovarian cancer syndrome [RCV001824643]|Hereditary cancer-predisposing syndrome [RCV000131789]|PALB2-related disorder [RCV004739459]|not provided [RCV004998280] Chr16:23607859 [GRCh38]
Chr16:23619180 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.2931dup (p.Val978fs) duplication Familial cancer of breast [RCV000195468]|Hereditary cancer-predisposing syndrome [RCV000131794]|not provided [RCV000235842] Chr16:23623033..23623034 [GRCh38]
Chr16:23634354..23634355 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.2557G>A (p.Gly853Ser) single nucleotide variant Familial cancer of breast [RCV000230627]|Familial cancer of breast [RCV002478401]|Hereditary cancer-predisposing syndrome [RCV000131807]|not provided [RCV000483722]|not specified [RCV001800443] Chr16:23629233 [GRCh38]
Chr16:23640554 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.560C>T (p.Pro187Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000132065] Chr16:23635986 [GRCh38]
Chr16:23647307 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1114A>G (p.Ser372Gly) single nucleotide variant Familial cancer of breast [RCV001232087]|Hereditary cancer-predisposing syndrome [RCV000132072] Chr16:23635432 [GRCh38]
Chr16:23646753 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.740C>G (p.Thr247Arg) single nucleotide variant Familial cancer of breast [RCV000211087]|Hereditary cancer-predisposing syndrome [RCV000132073]|not provided [RCV000588870] Chr16:23635806 [GRCh38]
Chr16:23647127 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.2052del (p.Arg686fs) deletion Familial cancer of breast [RCV000554009]|Familial cancer of breast [RCV001535939]|Hereditary cancer-predisposing syndrome [RCV000132106]|Malignant tumor of breast [RCV001357590]|PALB2-related disorder [RCV004739460]|not provided [RCV000254676] Chr16:23630102 [GRCh38]
Chr16:23641423 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.2608G>A (p.Val870Ile) single nucleotide variant Familial cancer of breast [RCV000227189]|Hereditary cancer-predisposing syndrome [RCV000132122]|not provided [RCV000656937]|not specified [RCV000212815] Chr16:23626376 [GRCh38]
Chr16:23637697 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.2507_2509del (p.Val836del) deletion Familial cancer of breast [RCV000465007]|Fanconi anemia [RCV000354505]|Fanconi anemia complementation group N [RCV005016454]|Hereditary cancer-predisposing syndrome [RCV000132137]|not provided [RCV000656935] Chr16:23629645..23629647 [GRCh38]
Chr16:23640966..23640968 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.1552T>C (p.Ser518Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000132235]|not provided [RCV000236344] Chr16:23634994 [GRCh38]
Chr16:23646315 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2890G>A (p.Gly964Arg) single nucleotide variant Familial cancer of breast [RCV001307165]|Hereditary cancer-predisposing syndrome [RCV000128945]|not provided [RCV000236207] Chr16:23623075 [GRCh38]
Chr16:23634396 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.3290C>G (p.Pro1097Arg) single nucleotide variant Familial cancer of breast [RCV000206496]|Hereditary cancer-predisposing syndrome [RCV000129027]|not provided [RCV000588943] Chr16:23607924 [GRCh38]
Chr16:23619245 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1190C>T (p.Thr397Ile) single nucleotide variant Familial cancer of breast [RCV003607242]|Hereditary cancer-predisposing syndrome [RCV000129058] Chr16:23635356 [GRCh38]
Chr16:23646677 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1697G>C (p.Arg566Pro) single nucleotide variant Familial cancer of breast [RCV000476315]|Fanconi anemia complementation group N [RCV005394468]|Hereditary cancer-predisposing syndrome [RCV000129134]|not provided [RCV001775617] Chr16:23630457 [GRCh38]
Chr16:23641778 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.2401G>A (p.Asp801Asn) single nucleotide variant Familial cancer of breast [RCV000167989]|Hereditary cancer-predisposing syndrome [RCV000132292]|See cases [RCV002251997]|not provided [RCV001570317] Chr16:23629753 [GRCh38]
Chr16:23641074 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2716T>C (p.Trp906Arg) single nucleotide variant Familial cancer of breast [RCV001243537]|Hereditary cancer-predisposing syndrome [RCV000132387]|not provided [RCV001775629] Chr16:23626268 [GRCh38]
Chr16:23637589 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.292A>G (p.Ile98Val) single nucleotide variant Familial cancer of breast [RCV000471839]|Hereditary breast ovarian cancer syndrome [RCV002225448]|Hereditary cancer-predisposing syndrome [RCV000132416]|not provided [RCV001753518] Chr16:23636254 [GRCh38]
Chr16:23647575 [GRCh37]
Chr16:16p12.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.1361C>T (p.Ser454Phe) single nucleotide variant Familial cancer of breast [RCV000815954]|Fanconi anemia complementation group N [RCV005016458]|Hereditary cancer-predisposing syndrome [RCV000132434]|not provided [RCV000587488] Chr16:23635185 [GRCh38]
Chr16:23646506 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.3507_3508del (p.His1170fs) microsatellite Breast-ovarian cancer, familial, susceptibility to, 1 [RCV004760387]|Breast-ovarian cancer, familial, susceptibility to, 5 [RCV005365017]|Familial cancer of breast [RCV000211073]|Fanconi anemia complementation group N [RCV001781465]|Fanconi anemia complementation group N [RCV005016432]|Hereditary breast ovarian cancer syndrome [RCV002225427]|Hereditary cancer-predisposing syndrome [RCV000129272]|PALB2-related disorder [RCV004545747]|not provided [RCV000133490] Chr16:23603512..23603513 [GRCh38]
Chr16:23614833..23614834 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.2705A>T (p.Asp902Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000129281] Chr16:23626279 [GRCh38]
Chr16:23637600 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1328A>G (p.Lys443Arg) single nucleotide variant Familial cancer of breast [RCV001215760]|Hereditary cancer-predisposing syndrome [RCV000129315] Chr16:23635218 [GRCh38]
Chr16:23646539 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2852C>T (p.Ser951Phe) single nucleotide variant Familial cancer of breast [RCV000535908]|Hereditary cancer-predisposing syndrome [RCV000132527]|Malignant tumor of breast [RCV000590893] Chr16:23623113 [GRCh38]
Chr16:23634434 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.2205del (p.Ala736fs) deletion Familial cancer of breast [RCV001849949]|Hereditary cancer-predisposing syndrome [RCV000132530] Chr16:23629949 [GRCh38]
Chr16:23641270 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.995T>A (p.Leu332His) single nucleotide variant Familial cancer of breast [RCV000199494]|Hereditary cancer-predisposing syndrome [RCV000132538]|Malignant tumor of breast [RCV001354291]|not provided [RCV000589127] Chr16:23635551 [GRCh38]
Chr16:23646872 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.2712G>A (p.Trp904Ter) single nucleotide variant Familial cancer of breast [RCV000799015]|Hereditary cancer-predisposing syndrome [RCV000129390]|not provided [RCV000485246] Chr16:23626272 [GRCh38]
Chr16:23637593 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic
NM_024675.4(PALB2):c.2417C>T (p.Pro806Leu) single nucleotide variant Breast and/or ovarian cancer [RCV003149891]|Familial cancer of breast [RCV000204760]|Hereditary cancer-predisposing syndrome [RCV000129403]|Malignant tumor of breast [RCV001355012]|Pancreatic cancer, susceptibility to, 3 [RCV001030305]|not provided [RCV000235688]|not specified [RCV001192769] Chr16:23629737 [GRCh38]
Chr16:23641058 [GRCh37]
Chr16:16p12.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.438A>C (p.Arg146Ser) single nucleotide variant Familial cancer of breast [RCV000410126]|Hereditary cancer-predisposing syndrome [RCV000129467]|not provided [RCV000212775] Chr16:23636108 [GRCh38]
Chr16:23647429 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.2743G>A (p.Ala915Thr) single nucleotide variant Diffuse midline glioma, H3 K27-altered [RCV003315231]|Familial cancer of breast [RCV000471567]|Hereditary cancer-predisposing syndrome [RCV000129474]|Malignant tumor of breast [RCV001355149]|PALB2-related disorder [RCV004545873]|not provided [RCV000481045] Chr16:23626241 [GRCh38]
Chr16:23637562 [GRCh37]
Chr16:16p12.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_024675.4(PALB2):c.1546del (p.Arg516fs) deletion Familial cancer of breast [RCV000196008]|Hereditary cancer-predisposing syndrome [RCV000129579]|not provided [RCV000506528] Chr16:23635000 [GRCh38]
Chr16:23646321 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic
NM_024675.4(PALB2):c.2514+3dup duplication Familial cancer of breast [RCV000799318]|Hereditary cancer-predisposing syndrome [RCV000129677]|not provided [RCV001849925]|not specified [RCV001800428] Chr16:23629636..23629637 [GRCh38]
Chr16:23640957..23640958 [GRCh37]
Chr16:16p12.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.101G>A (p.Arg34His) single nucleotide variant Familial cancer of breast [RCV000530292]|Familial cancer of breast [RCV002478387]|Fanconi anemia complementation group N [RCV001119844]|Hereditary cancer-predisposing syndrome [RCV000129692]|not provided [RCV001729405]|not specified [RCV000587426] Chr16:23638077 [GRCh38]
Chr16:23649398 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.3508C>T (p.His1170Tyr) single nucleotide variant Breast-ovarian cancer, familial, susceptibility to, 5 [RCV005359213]|Familial cancer of breast [RCV000226949]|Hereditary breast ovarian cancer syndrome [RCV004760389]|Hereditary cancer-predisposing syndrome [RCV000129794]|not provided [RCV000212829]|not specified [RCV001818304] Chr16:23603512 [GRCh38]
Chr16:23614833 [GRCh37]
Chr16:16p12.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.26delinsCG (p.Leu9fs) indel Familial cancer of breast [RCV003474754]|Hereditary cancer-predisposing syndrome [RCV000129810] Chr16:23641132 [GRCh38]
Chr16:23652453 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic
NM_024675.4(PALB2):c.654del (p.Asp219fs) deletion Breast and/or ovarian cancer [RCV001270996]|Familial cancer of breast [RCV000635944]|Hereditary cancer-predisposing syndrome [RCV000129864]|Malignant tumor of breast [RCV001358375]|not provided [RCV005425739] Chr16:23635892 [GRCh38]
Chr16:23647213 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.2568A>C (p.Gln856His) single nucleotide variant Familial cancer of breast [RCV000476959]|Hereditary cancer-predisposing syndrome [RCV000129881]|not provided [RCV000486393] Chr16:23629222 [GRCh38]
Chr16:23640543 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2091C>A (p.Gly697=) single nucleotide variant Familial cancer of breast [RCV000211080]|not specified [RCV000427677] Chr16:23630063 [GRCh38]
Chr16:23641384 [GRCh37]
Chr16:16p12.2		 likely benign
NM_024675.4(PALB2):c.1931G>A (p.Gly644Glu) single nucleotide variant Familial cancer of breast [RCV000211083]|Hereditary cancer-predisposing syndrome [RCV003362729] Chr16:23630223 [GRCh38]
Chr16:23641544 [GRCh37]
Chr16:16p12.2		 uncertain significance
GRCh38/hg38 16p12.2-11.2(chr16:22634385-29227323)x3 copy number gain See cases [RCV000135594] Chr16:22634385..29227323 [GRCh38]
Chr16:22645706..29238644 [GRCh37]
Chr16:22553207..29146145 [NCBI36]
Chr16:16p12.2-11.2		 likely pathogenic
GRCh38/hg38 16p12.2-11.2(chr16:21350622-29202837)x3 copy number gain See cases [RCV000140235] Chr16:21350622..29202837 [GRCh38]
Chr16:21361943..29214158 [GRCh37]
Chr16:21269444..29121659 [NCBI36]
Chr16:16p12.2-11.2		 likely pathogenic
NM_024675.4(PALB2):c.1924del (p.Met642fs) deletion Familial cancer of breast [RCV000410708]|Fanconi anemia complementation group N [RCV005016481]|Hereditary cancer-predisposing syndrome [RCV000160805]|not provided [RCV000212803] Chr16:23630230 [GRCh38]
Chr16:23641551 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic
NM_024675.4(PALB2):c.2032del (p.Leu678fs) deletion Familial cancer of breast [RCV000528815]|Hereditary cancer-predisposing syndrome [RCV000160807]|not provided [RCV000254675] Chr16:23630122 [GRCh38]
Chr16:23641443 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.2154del (p.Arg718fs) deletion Familial cancer of breast [RCV003453275]|not provided [RCV000160808] Chr16:23630000 [GRCh38]
Chr16:23641321 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic
NM_024675.4(PALB2):c.2642_2645dup (p.Cys882fs) duplication Familial cancer of breast [RCV000465671]|Hereditary cancer-predisposing syndrome [RCV000160809]|Malignant tumor of breast [RCV002271430]|PALB2-related disorder [RCV004724949]|not provided [RCV000497297] Chr16:23626338..23626339 [GRCh38]
Chr16:23637659..23637660 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.2727_2728del (p.Thr911fs) deletion Familial cancer of breast [RCV000232116]|Familial cancer of breast [RCV002492637]|Gastric cancer [RCV003162679]|Hereditary breast ovarian cancer syndrome [RCV001193416]|Hereditary cancer-predisposing syndrome [RCV000160810]|PALB2-related disorder [RCV004544473]|not provided [RCV000254678] Chr16:23626256..23626257 [GRCh38]
Chr16:23637577..23637578 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|not provided
NM_024675.4(PALB2):c.786del (p.Glu263fs) deletion Familial cancer of breast [RCV001050697]|Hereditary breast ovarian cancer syndrome [RCV001804886]|Hereditary cancer-predisposing syndrome [RCV000574923]|not provided [RCV000160812] Chr16:23635760 [GRCh38]
Chr16:23647081 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.948del (p.Thr317fs) deletion Familial cancer of breast [RCV000463598]|Hereditary cancer-predisposing syndrome [RCV000454254]|not provided [RCV000160813] Chr16:23635598 [GRCh38]
Chr16:23646919 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.1059del (p.Lys353fs) deletion Breast-ovarian cancer, familial, susceptibility to, 5 [RCV005359381]|Familial cancer of breast [RCV000230419]|Familial cancer of breast [RCV002498798]|Hereditary cancer-predisposing syndrome [RCV000575109]|not provided [RCV000160814] Chr16:23635487 [GRCh38]
Chr16:23646808 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic
NM_024675.4(PALB2):c.2607C>A (p.Ser869=) single nucleotide variant Familial cancer of breast [RCV001082563]|Hereditary cancer-predisposing syndrome [RCV000566660]|not provided [RCV000590220]|not specified [RCV000160819] Chr16:23626377 [GRCh38]
Chr16:23637698 [GRCh37]
Chr16:16p12.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.2748+16G>A single nucleotide variant Breast-ovarian cancer, familial, susceptibility to, 5 [RCV005235051]|Familial cancer of breast [RCV002053935]|Hereditary cancer-predisposing syndrome [RCV000581066]|not provided [RCV001580104]|not specified [RCV000160820] Chr16:23626220 [GRCh38]
Chr16:23637541 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.3202-8G>A single nucleotide variant Familial cancer of breast [RCV001081288]|Hereditary cancer-predisposing syndrome [RCV000579984]|not provided [RCV000488296]|not specified [RCV000160821] Chr16:23608020 [GRCh38]
Chr16:23619341 [GRCh37]
Chr16:16p12.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.3202-8G>T single nucleotide variant Breast and/or ovarian cancer [RCV001798556]|Familial cancer of breast [RCV000476584]|Hereditary breast ovarian cancer syndrome [RCV005359382]|Hereditary cancer-predisposing syndrome [RCV000580700]|not provided [RCV001284321]|not specified [RCV000160822] Chr16:23608020 [GRCh38]
Chr16:23619341 [GRCh37]
Chr16:16p12.2		 benign|likely benign|uncertain significance
NM_024675.4(PALB2):c.1611G>C (p.Ser537=) single nucleotide variant Familial cancer of breast [RCV000875722]|Hereditary cancer-predisposing syndrome [RCV002399587]|not specified [RCV000160823] Chr16:23634935 [GRCh38]
Chr16:23646256 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.1641C>T (p.Thr547=) single nucleotide variant Familial cancer of breast [RCV001083201]|Hereditary cancer-predisposing syndrome [RCV000160824]|not provided [RCV000198904]|not specified [RCV000212799] Chr16:23634905 [GRCh38]
Chr16:23646226 [GRCh37]
Chr16:16p12.2		 benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_024675.4(PALB2):c.-5G>T single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000561746]|not specified [RCV000160825] Chr16:23641162 [GRCh38]
Chr16:23652483 [GRCh37]
Chr16:16p12.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.1724G>A (p.Trp575Ter) single nucleotide variant Familial cancer of breast [RCV001238865]|Fanconi anemia complementation group N [RCV001781504]|Hereditary breast ovarian cancer syndrome [RCV003155926]|Hereditary cancer-predisposing syndrome [RCV000771400]|PALB2-related disorder [RCV004724950]|not provided [RCV000160827] Chr16:23630430 [GRCh38]
Chr16:23641751 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic
NM_024675.4(PALB2):c.2615T>C (p.Val872Ala) single nucleotide variant Familial cancer of breast [RCV000462998]|Hereditary cancer-predisposing syndrome [RCV000216057]|Malignant tumor of breast [RCV001356561]|not provided [RCV000160828]|not specified [RCV001420923] Chr16:23626369 [GRCh38]
Chr16:23637690 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.3235G>T (p.Ala1079Ser) single nucleotide variant Breast-ovarian cancer, familial, susceptibility to, 5 [RCV005359383]|Familial cancer of breast [RCV000543305]|Hereditary cancer-predisposing syndrome [RCV000564254]|not provided [RCV000160829]|not specified [RCV001797644] Chr16:23607979 [GRCh38]
Chr16:23619300 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.212-2A>G single nucleotide variant Familial cancer of breast [RCV000206312]|Familial cancer of breast [RCV002498799]|Fanconi anemia complementation group N [RCV001781505]|Hereditary breast ovarian cancer syndrome [RCV004800300]|Hereditary cancer-predisposing syndrome [RCV000213220]|PALB2-related disorder [RCV004739509]|not provided [RCV000160830] Chr16:23636336 [GRCh38]
Chr16:23647657 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_024675.4(PALB2):c.364G>T (p.Asp122Tyr) single nucleotide variant Familial cancer of breast [RCV000524596]|Hereditary cancer-predisposing syndrome [RCV001020802]|not provided [RCV000160831] Chr16:23636182 [GRCh38]
Chr16:23647503 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.397A>G (p.Ser133Gly) single nucleotide variant Familial cancer of breast [RCV000227552]|Hereditary cancer-predisposing syndrome [RCV000454193]|not provided [RCV000587887] Chr16:23636149 [GRCh38]
Chr16:23647470 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.968C>A (p.Ala323Glu) single nucleotide variant Familial cancer of breast [RCV000466032]|Familial cancer of breast [RCV000765278]|Hereditary cancer-predisposing syndrome [RCV000220109]|not provided [RCV000160833] Chr16:23635578 [GRCh38]
Chr16:23646899 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1407C>G (p.Cys469Trp) single nucleotide variant Familial cancer of breast [RCV000810010]|Hereditary cancer-predisposing syndrome [RCV000571438]|not provided [RCV000160834] Chr16:23635139 [GRCh38]
Chr16:23646460 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.43G>T (p.Glu15Ter) single nucleotide variant Familial cancer of breast [RCV001036521]|Hereditary cancer-predisposing syndrome [RCV000567534]|not provided [RCV000160835] Chr16:23641115 [GRCh38]
Chr16:23652436 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.2020G>A (p.Asp674Asn) single nucleotide variant Familial cancer of breast [RCV000548729]|Familial cancer of breast [RCV002505195]|Hereditary cancer-predisposing syndrome [RCV000217309]|not provided [RCV000160836] Chr16:23630134 [GRCh38]
Chr16:23641455 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.2106A>G (p.Ile702Met) single nucleotide variant Familial cancer of breast [RCV000211076]|Hereditary cancer-predisposing syndrome [RCV000160837]|not provided [RCV000212805] Chr16:23630048 [GRCh38]
Chr16:23641369 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.2128A>G (p.Thr710Ala) single nucleotide variant Familial cancer of breast [RCV000232377]|Familial cancer of breast [RCV002485000]|Hereditary cancer-predisposing syndrome [RCV000569204]|PALB2-related disorder [RCV004535048]|not provided [RCV000160838]|not specified [RCV000780572] Chr16:23630026 [GRCh38]
Chr16:23641347 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.2229T>A (p.Tyr743Ter) single nucleotide variant Breast-ovarian cancer, familial, susceptibility to, 5 [RCV004992040]|Familial cancer of breast [RCV002466252]|Hereditary cancer-predisposing syndrome [RCV002426793]|not provided [RCV000160839] Chr16:23629925 [GRCh38]
Chr16:23641246 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic
NM_024675.4(PALB2):c.2329G>A (p.Asp777Asn) single nucleotide variant Familial cancer of breast [RCV000204167]|Hereditary cancer-predisposing syndrome [RCV000160841]|not provided [RCV000212809] Chr16:23629825 [GRCh38]
Chr16:23641146 [GRCh37]
Chr16:16p12.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.2353C>T (p.Pro785Ser) single nucleotide variant Familial cancer of breast [RCV000460019]|Hereditary cancer [RCV004700497]|Hereditary cancer-predisposing syndrome [RCV001015124]|not provided [RCV000160842] Chr16:23629801 [GRCh38]
Chr16:23641122 [GRCh37]
Chr16:16p12.2		 likely benign|uncertain significance
NM_024675.4(PALB2):c.2699C>T (p.Ala900Val) single nucleotide variant Familial cancer of breast [RCV000555792]|Familial cancer of breast [RCV002485001]|Fanconi anemia complementation group N [RCV005394561]|Hereditary cancer-predisposing syndrome [RCV000216145]|not provided [RCV000160844] Chr16:23626285 [GRCh38]
Chr16:23637606 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.2798G>A (p.Cys933Tyr) single nucleotide variant Familial cancer of breast [RCV000228665]|Hereditary cancer-predisposing syndrome [RCV000571562]|not provided [RCV000160846] Chr16:23624045 [GRCh38]
Chr16:23635366 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2834+1G>A single nucleotide variant Familial cancer of breast [RCV000635960]|Familial cancer of breast [RCV002478488]|Hereditary cancer-predisposing syndrome [RCV001016726]|Malignant tumor of breast [RCV001268941]|not provided [RCV000160847] Chr16:23624008 [GRCh38]
Chr16:23635329 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic
NM_024675.4(PALB2):c.2922G>T (p.Lys974Asn) single nucleotide variant Familial cancer of breast [RCV000205333]|Hereditary cancer-predisposing syndrome [RCV000566246]|Malignant tumor of breast [RCV001355089]|not provided [RCV000160849]|not specified [RCV002267894] Chr16:23623043 [GRCh38]
Chr16:23634364 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.3191A>G (p.Tyr1064Cys) single nucleotide variant Familial cancer of breast [RCV000467780]|Hereditary cancer-predisposing syndrome [RCV000774624]|not provided [RCV000160850] Chr16:23614014 [GRCh38]
Chr16:23625335 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.3278T>C (p.Ile1093Thr) single nucleotide variant Breast-ovarian cancer, familial, susceptibility to, 5 [RCV003483530]|Familial cancer of breast [RCV000197231]|Hereditary cancer-predisposing syndrome [RCV000223658]|Malignant tumor of breast [RCV001357444]|not provided [RCV000160854] Chr16:23607936 [GRCh38]
Chr16:23619257 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic|likely benign|uncertain significance
NM_024675.4(PALB2):c.3404G>A (p.Gly1135Glu) single nucleotide variant Carcinoma of colon [RCV001030415]|Familial cancer of breast [RCV000232726]|Familial cancer of breast [RCV002492638]|Hereditary cancer-predisposing syndrome [RCV000570480]|not provided [RCV000589198]|not specified [RCV000855602] Chr16:23603616 [GRCh38]
Chr16:23614937 [GRCh37]
Chr16:16p12.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.3452T>A (p.Leu1151His) single nucleotide variant Familial cancer of breast [RCV000799466]|Hereditary cancer-predisposing syndrome [RCV003162680]|not provided [RCV000160856] Chr16:23603568 [GRCh38]
Chr16:23614889 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.3474T>A (p.His1158Gln) single nucleotide variant Familial cancer of breast [RCV000464364]|Hereditary cancer-predisposing syndrome [RCV000576122]|not provided [RCV000160857] Chr16:23603546 [GRCh38]
Chr16:23614867 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.109-2A>G single nucleotide variant Familial cancer of breast [RCV000803061]|Fanconi anemia complementation group N [RCV005016482]|Hereditary cancer-predisposing syndrome [RCV000572657]|not provided [RCV000160858] Chr16:23637954 [GRCh38]
Chr16:23649275 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic
NM_024675.4(PALB2):c.161A>G (p.Glu54Gly) single nucleotide variant Familial cancer of breast [RCV000463943]|Hereditary cancer-predisposing syndrome [RCV000160859]|not provided [RCV000212769]|not specified [RCV000780564] Chr16:23637900 [GRCh38]
Chr16:23649221 [GRCh37]
Chr16:16p12.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.187C>T (p.Leu63Phe) single nucleotide variant Familial cancer of breast [RCV000469950]|Familial cancer of breast [RCV000765279]|Hereditary cancer-predisposing syndrome [RCV000576103]|not provided [RCV000160860] Chr16:23637874 [GRCh38]
Chr16:23649195 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.208T>C (p.Ser70Pro) single nucleotide variant Familial cancer of breast [RCV001234988]|Hereditary cancer-predisposing syndrome [RCV003298193]|not provided [RCV000160861] Chr16:23637853 [GRCh38]
Chr16:23649174 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.262C>G (p.Leu88Val) single nucleotide variant Familial cancer of breast [RCV000701072]|Hereditary cancer-predisposing syndrome [RCV001016091]|not provided [RCV000160862] Chr16:23636284 [GRCh38]
Chr16:23647605 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.521A>G (p.Lys174Arg) single nucleotide variant Breast-ovarian cancer, familial, susceptibility to, 5 [RCV005359384]|Familial cancer of breast [RCV000557614]|Hereditary cancer-predisposing syndrome [RCV000774644]|not provided [RCV000160863] Chr16:23636025 [GRCh38]
Chr16:23647346 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.535C>G (p.Gln179Glu) single nucleotide variant Familial cancer of breast [RCV001850272]|not provided [RCV000160864]|not specified [RCV003321524] Chr16:23636011 [GRCh38]
Chr16:23647332 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.587G>A (p.Arg196Lys) single nucleotide variant Familial cancer of breast [RCV000228567]|Hereditary cancer-predisposing syndrome [RCV000216462]|PALB2-related disorder [RCV004535049]|not provided [RCV000160865] Chr16:23635959 [GRCh38]
Chr16:23647280 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.688G>T (p.Glu230Ter) single nucleotide variant Familial cancer of breast [RCV000471920]|Hereditary cancer-predisposing syndrome [RCV000561729]|not provided [RCV000160866] Chr16:23635858 [GRCh38]
Chr16:23647179 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic
NM_024675.4(PALB2):c.1156A>G (p.Thr386Ala) single nucleotide variant Familial cancer of breast [RCV000528086]|Familial cancer of breast [RCV002492639]|Hereditary cancer-predisposing syndrome [RCV000773131]|not provided [RCV000160867] Chr16:23635390 [GRCh38]
Chr16:23646711 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.1400G>A (p.Gly467Asp) single nucleotide variant Familial cancer of breast [RCV000549785]|Hereditary cancer-predisposing syndrome [RCV000160868]|not provided [RCV000212793] Chr16:23635146 [GRCh38]
Chr16:23646467 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.1471G>C (p.Ala491Pro) single nucleotide variant Familial cancer of breast [RCV000635626]|Familial cancer of breast [RCV002485002]|Hereditary cancer-predisposing syndrome [RCV000216241]|PALB2-related disorder [RCV004535050]|not provided [RCV000160869] Chr16:23635075 [GRCh38]
Chr16:23646396 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.1492G>T (p.Asp498Tyr) single nucleotide variant Familial cancer of breast [RCV000197379]|Fanconi anemia complementation group N [RCV000368837]|Hereditary breast ovarian cancer syndrome [RCV001030650]|Hereditary cancer-predisposing syndrome [RCV000160870]|Malignant tumor of breast [RCV001356483]|not provided [RCV000858743]|not specified [RCV000200991] Chr16:23635054 [GRCh38]
Chr16:23646375 [GRCh37]
Chr16:16p12.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
NM_024675.4(PALB2):c.1610C>T (p.Ser537Leu) single nucleotide variant Carcinoma of colon [RCV001030240]|Familial cancer of breast [RCV000168207]|Fanconi anemia complementation group N [RCV001121722]|Hereditary cancer-predisposing syndrome [RCV000220923]|PALB2-related disorder [RCV004535051]|not provided [RCV000160871] Chr16:23634936 [GRCh38]
Chr16:23646257 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.37G>A (p.Glu13Lys) single nucleotide variant Familial cancer of breast [RCV000197594]|Familial cancer of breast [RCV002478489]|Hereditary cancer-predisposing syndrome [RCV000160873]|not provided [RCV000235192] Chr16:23641121 [GRCh38]
Chr16:23652442 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.3:c.833_834ATdelTAinsAT insertion Hereditary cancer-predisposing syndrome [RCV000160815] Chr16:16p12.2 uncertain significance
NM_024675.4(PALB2):c.372C>T (p.Thr124=) single nucleotide variant Familial cancer of breast [RCV000537604]|Fanconi anemia complementation group N [RCV005396470]|Hereditary cancer-predisposing syndrome [RCV000164424]|PALB2-related disorder [RCV004535099]|not specified [RCV002271436] Chr16:23636174 [GRCh38]
Chr16:23647495 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.1846G>C (p.Asp616His) single nucleotide variant Breast-ovarian cancer, familial, susceptibility to, 5 [RCV003989339]|Familial cancer of breast [RCV000635889]|Familial cancer of breast [RCV002492657]|Hereditary cancer-predisposing syndrome [RCV000164427]|not provided [RCV000483250]|not specified [RCV001269117] Chr16:23630308 [GRCh38]
Chr16:23641629 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1222T>G (p.Tyr408Asp) single nucleotide variant Familial cancer of breast [RCV001362967]|Hereditary cancer-predisposing syndrome [RCV000164451]|not provided [RCV001030205] Chr16:23635324 [GRCh38]
Chr16:23646645 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.109C>A (p.Arg37Ser) single nucleotide variant Familial cancer of breast [RCV000234405]|Hereditary cancer-predisposing syndrome [RCV000164472]|PALB2-related disorder [RCV004724955]|not provided [RCV000656933]|not specified [RCV000481543] Chr16:23637952 [GRCh38]
Chr16:23649273 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2271A>G (p.Thr757=) single nucleotide variant Familial cancer of breast [RCV000934630]|Fanconi anemia complementation group N [RCV005396473]|Hereditary cancer-predisposing syndrome [RCV000164529] Chr16:23629883 [GRCh38]
Chr16:23641204 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.2228A>T (p.Tyr743Phe) single nucleotide variant Familial cancer of breast [RCV000698708]|Hereditary cancer-predisposing syndrome [RCV000164551] Chr16:23629926 [GRCh38]
Chr16:23641247 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1408A>G (p.Thr470Ala) single nucleotide variant Breast-ovarian cancer, familial, susceptibility to, 5 [RCV005359480]|Familial cancer of breast [RCV000525404]|Hereditary cancer-predisposing syndrome [RCV000164567]|Inherited breast cancer and ovarian cancer [RCV005237616]|not provided [RCV000480806]|not specified [RCV002265643] Chr16:23635138 [GRCh38]
Chr16:23646459 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.3228_3244dup (p.Ser1082fs) duplication Familial cancer of breast [RCV003454398]|Hereditary cancer-predisposing syndrome [RCV000164597] Chr16:23607969..23607970 [GRCh38]
Chr16:23619290..23619291 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.40A>G (p.Lys14Glu) single nucleotide variant Familial cancer of breast [RCV000693912]|Hereditary cancer-predisposing syndrome [RCV000164630]|not provided [RCV001565871] Chr16:23641118 [GRCh38]
Chr16:23652439 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2208C>A (p.Ala736=) single nucleotide variant Familial cancer of breast [RCV000204026]|Hereditary cancer-predisposing syndrome [RCV000164661]|not provided [RCV001800485]|not specified [RCV000417789] Chr16:23629946 [GRCh38]
Chr16:23641267 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.100C>T (p.Arg34Cys) single nucleotide variant Familial cancer of breast [RCV000199940]|Hereditary cancer-predisposing syndrome [RCV000164663]|Inherited breast cancer and ovarian cancer [RCV004808602]|not provided [RCV000236984]|not specified [RCV002222417] Chr16:23638078 [GRCh38]
Chr16:23649399 [GRCh37]
Chr16:16p12.2		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.1097A>G (p.Asn366Ser) single nucleotide variant Familial cancer of breast [RCV000204324]|Hereditary cancer-predisposing syndrome [RCV000164773]|PALB2-related disorder [RCV004535105]|not provided [RCV005054172] Chr16:23635449 [GRCh38]
Chr16:23646770 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.169T>A (p.Cys57Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000164803] Chr16:23637892 [GRCh38]
Chr16:23649213 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.950C>T (p.Thr317Ile) single nucleotide variant Familial cancer of breast [RCV000200449]|Hereditary cancer-predisposing syndrome [RCV000164806]|Malignant tumor of breast [RCV001357471]|not provided [RCV000766544] Chr16:23635596 [GRCh38]
Chr16:23646917 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.3451C>T (p.Leu1151Phe) single nucleotide variant Familial cancer of breast [RCV000816063]|Familial cancer of breast [RCV002485036]|Hereditary cancer-predisposing syndrome [RCV000166777]|not provided [RCV000587507] Chr16:23603569 [GRCh38]
Chr16:23614890 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1510G>A (p.Val504Ile) single nucleotide variant Familial cancer of breast [RCV000816945]|Hereditary cancer-predisposing syndrome [RCV000166778] Chr16:23635036 [GRCh38]
Chr16:23646357 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.1545A>G (p.Lys515=) single nucleotide variant Familial cancer of breast [RCV000545596]|Hereditary cancer-predisposing syndrome [RCV000166787]|not specified [RCV000606738] Chr16:23635001 [GRCh38]
Chr16:23646322 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.3204G>A (p.Gly1068=) single nucleotide variant Familial cancer of breast [RCV000636006]|Hereditary cancer-predisposing syndrome [RCV000166794]|PALB2-related disorder [RCV004539562]|not provided [RCV001579700]|not specified [RCV000602197] Chr16:23608010 [GRCh38]
Chr16:23619331 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.3004_3007del (p.Glu1002fs) deletion Familial cancer of breast [RCV000635888]|Fanconi anemia complementation group N [RCV002243834]|Hereditary breast ovarian cancer syndrome [RCV004782275]|Hereditary cancer-predisposing syndrome [RCV000166810] Chr16:23621468..23621471 [GRCh38]
Chr16:23632789..23632792 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic
NM_024675.4(PALB2):c.1379A>G (p.Gln460Arg) single nucleotide variant Familial cancer of breast [RCV000989572]|Fanconi anemia complementation group N [RCV000289282]|Fanconi anemia complementation group N [RCV005396492]|Hereditary breast ovarian cancer syndrome [RCV001030716]|Hereditary cancer-predisposing syndrome [RCV000166836]|PALB2-related disorder [RCV004739541]|not provided [RCV000483813]|not specified [RCV000780567] Chr16:23635167 [GRCh38]
Chr16:23646488 [GRCh37]
Chr16:16p12.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.1123C>A (p.Leu375Ile) single nucleotide variant Familial cancer of breast [RCV000198293]|Hereditary cancer-predisposing syndrome [RCV000166837]|PALB2-related disorder [RCV004545875]|not provided [RCV000236203]|not specified [RCV001420780] Chr16:23635423 [GRCh38]
Chr16:23646744 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_024675.4(PALB2):c.1095G>A (p.Arg365=) single nucleotide variant Familial cancer of breast [RCV000934638]|Hereditary cancer-predisposing syndrome [RCV000166857]|Malignant tumor of breast [RCV001357372]|not specified [RCV000605029] Chr16:23635451 [GRCh38]
Chr16:23646772 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.1659C>G (p.His553Gln) single nucleotide variant Familial cancer of breast [RCV000547924]|Hereditary cancer-predisposing syndrome [RCV000166875]|not specified [RCV001201201] Chr16:23634887 [GRCh38]
Chr16:23646208 [GRCh37]
Chr16:16p12.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.3545T>C (p.Val1182Ala) single nucleotide variant Familial cancer of breast [RCV000548591]|Hereditary cancer-predisposing syndrome [RCV000166908] Chr16:23603475 [GRCh38]
Chr16:23614796 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1093A>G (p.Arg365Gly) single nucleotide variant Familial cancer of breast [RCV000205169]|Familial cancer of breast [RCV002485020]|Hereditary cancer-predisposing syndrome [RCV000164864]|not provided [RCV000486708] Chr16:23635453 [GRCh38]
Chr16:23646774 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.1684G>A (p.Gly562Arg) single nucleotide variant Familial cancer of breast [RCV000686970]|Hereditary cancer-predisposing syndrome [RCV000164956] Chr16:23634862 [GRCh38]
Chr16:23646183 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.3367G>A (p.Val1123Met) single nucleotide variant Familial cancer of breast [RCV000211079]|Familial cancer of breast [RCV002485022]|Hereditary cancer-predisposing syndrome [RCV000164958]|not provided [RCV000479580] Chr16:23603653 [GRCh38]
Chr16:23614974 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.788A>G (p.Glu263Gly) single nucleotide variant Familial cancer of breast [RCV000233981]|Fanconi anemia complementation group N [RCV005016493]|Hereditary cancer-predisposing syndrome [RCV000164996]|not provided [RCV000485489] Chr16:23635758 [GRCh38]
Chr16:23647079 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.503C>T (p.Ser168Leu) single nucleotide variant Familial cancer of breast [RCV001035722]|Hereditary cancer-predisposing syndrome [RCV000166977]|not provided [RCV000759191] Chr16:23636043 [GRCh38]
Chr16:23647364 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2831T>A (p.Ile944Asn) single nucleotide variant Familial cancer of breast [RCV003162715]|Hereditary cancer-predisposing syndrome [RCV000166978] Chr16:23624012 [GRCh38]
Chr16:23635333 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2508C>G (p.Val836=) single nucleotide variant Familial cancer of breast [RCV000410515]|Hereditary cancer-predisposing syndrome [RCV000166988]|PALB2-related disorder [RCV004535131]|not provided [RCV001706089]|not specified [RCV001818395] Chr16:23629646 [GRCh38]
Chr16:23640967 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.2356C>T (p.His786Tyr) single nucleotide variant Familial cancer of breast [RCV000226421]|Familial cancer of breast [RCV002505215]|Fanconi anemia complementation group N [RCV003129793]|Hereditary cancer-predisposing syndrome [RCV000166996]|not provided [RCV001566992]|not specified [RCV003321534] Chr16:23629798 [GRCh38]
Chr16:23641119 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.36G>A (p.Glu12=) single nucleotide variant Familial cancer of breast [RCV000476001]|Hereditary cancer-predisposing syndrome [RCV000165018]|not provided [RCV004998329] Chr16:23641122 [GRCh38]
Chr16:23652443 [GRCh37]
Chr16:16p12.2		 benign|likely benign|uncertain significance
NM_024675.4(PALB2):c.9G>A (p.Glu3=) single nucleotide variant Familial cancer of breast [RCV000204176]|Hereditary cancer-predisposing syndrome [RCV000165076]|not provided [RCV001721067]|not specified [RCV000418049] Chr16:23641149 [GRCh38]
Chr16:23652470 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.2474G>C (p.Arg825Thr) single nucleotide variant Breast-ovarian cancer, familial, susceptibility to, 5 [RCV005359498]|Endometrial carcinoma [RCV001256975]|Familial cancer of breast [RCV001086620]|Hereditary cancer-predisposing syndrome [RCV000165079]|not provided [RCV000236812]|not specified [RCV000780569] Chr16:23629680 [GRCh38]
Chr16:23641001 [GRCh37]
Chr16:16p12.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.1594C>T (p.Pro532Ser) single nucleotide variant Familial cancer of breast [RCV000819569]|Hereditary cancer-predisposing syndrome [RCV000165089]|not specified [RCV003398840] Chr16:23634952 [GRCh38]
Chr16:23646273 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2782G>A (p.Val928Met) single nucleotide variant Familial cancer of breast [RCV002516474]|Hereditary cancer-predisposing syndrome [RCV000165137] Chr16:23624061 [GRCh38]
Chr16:23635382 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.900A>G (p.Thr300=) single nucleotide variant Familial cancer of breast [RCV000205195]|Familial cancer of breast [RCV002485038]|Hereditary cancer-predisposing syndrome [RCV000167125]|PALB2-related disorder [RCV004535134]|not provided [RCV001721087] Chr16:23635646 [GRCh38]
Chr16:23646967 [GRCh37]
Chr16:16p12.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.1451T>A (p.Leu484Ter) single nucleotide variant Familial cancer of breast [RCV001310142]|Generalized hypopigmentation [RCV000414940]|Hereditary breast ovarian cancer syndrome [RCV000587378]|Hereditary cancer-predisposing syndrome [RCV000167136]|Malignant tumor of breast [RCV001356904]|not provided [RCV001543564] Chr16:23635095 [GRCh38]
Chr16:23646416 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic
NM_024675.4(PALB2):c.1708G>A (p.Glu570Lys) single nucleotide variant Familial cancer of breast [RCV000410345]|Hereditary cancer-predisposing syndrome [RCV000167185] Chr16:23630446 [GRCh38]
Chr16:23641767 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1273G>A (p.Val425Met) single nucleotide variant Breast and/or ovarian cancer [RCV003491915]|Familial cancer of breast [RCV000205365]|Hereditary breast ovarian cancer syndrome [RCV004689644]|Hereditary cancer-predisposing syndrome [RCV000167189]|Malignant tumor of breast [RCV001358598]|PALB2-related disorder [RCV004539565]|not provided [RCV000236471]|not specified [RCV001030212] Chr16:23635273 [GRCh38]
Chr16:23646594 [GRCh37]
Chr16:16p12.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.1930G>T (p.Gly644Ter) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000165251] Chr16:23630224 [GRCh38]
Chr16:23641545 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.1209G>A (p.Leu403=) single nucleotide variant Familial cancer of breast [RCV001083443]|Hereditary cancer-predisposing syndrome [RCV000165272]|not provided [RCV000467675]|not specified [RCV000440263] Chr16:23635337 [GRCh38]
Chr16:23646658 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.1715C>T (p.Ser572Phe) single nucleotide variant Familial cancer of breast [RCV000411877]|Hereditary cancer-predisposing syndrome [RCV000165275] Chr16:23630439 [GRCh38]
Chr16:23641760 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.3426_3429del (p.Leu1142fs) microsatellite Breast-ovarian cancer, familial, susceptibility to, 5 [RCV003991017]|Familial cancer of breast [RCV000540873]|Hereditary cancer-predisposing syndrome [RCV000165289]|not provided [RCV000133486] Chr16:23603591..23603594 [GRCh38]
Chr16:23614912..23614915 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_024675.4(PALB2):c.2662A>T (p.Ile888Leu) single nucleotide variant Familial cancer of breast [RCV000456550]|Hereditary cancer-predisposing syndrome [RCV000165291]|not provided [RCV002284368] Chr16:23626322 [GRCh38]
Chr16:23637643 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.2453T>C (p.Phe818Ser) single nucleotide variant Familial cancer of breast [RCV000476189]|Hereditary cancer [RCV005235052]|Hereditary cancer-predisposing syndrome [RCV000162394]|not provided [RCV004589674] Chr16:23629701 [GRCh38]
Chr16:23641022 [GRCh37]
Chr16:16p12.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.1623G>A (p.Arg541=) single nucleotide variant Familial cancer of breast [RCV000204373]|Hereditary cancer-predisposing syndrome [RCV000162458]|not provided [RCV000759896]|not specified [RCV001192768] Chr16:23634923 [GRCh38]
Chr16:23646244 [GRCh37]
Chr16:16p12.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_024675.4(PALB2):c.2253T>C (p.Ala751=) single nucleotide variant Familial cancer of breast [RCV000465740]|Hereditary cancer-predisposing syndrome [RCV000162576]|not provided [RCV001711322] Chr16:23629901 [GRCh38]
Chr16:23641222 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.1257C>T (p.Cys419=) single nucleotide variant Familial cancer of breast [RCV000942401]|Hereditary cancer-predisposing syndrome [RCV000162584] Chr16:23635289 [GRCh38]
Chr16:23646610 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.1599T>C (p.Thr533=) single nucleotide variant Familial cancer of breast [RCV000232866]|Familial pancreatic carcinoma [RCV005359395]|Fanconi anemia complementation group N [RCV001121723]|Hereditary cancer-predisposing syndrome [RCV000162589]|PALB2-related disorder [RCV004544477]|not provided [RCV001704155]|not specified [RCV001818362] Chr16:23634947 [GRCh38]
Chr16:23646268 [GRCh37]
Chr16:16p12.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.824C>T (p.Thr275Ile) single nucleotide variant Familial cancer of breast [RCV000663229]|Hereditary cancer-predisposing syndrome [RCV000165341]|Malignant tumor of breast [RCV001355748]|not provided [RCV001824291] Chr16:23635722 [GRCh38]
Chr16:23647043 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2277A>G (p.Gln759=) single nucleotide variant Breast and/or ovarian cancer [RCV003150021]|Familial cancer of breast [RCV000472744]|Fanconi anemia complementation group N [RCV001119745]|Hereditary cancer-predisposing syndrome [RCV000165372]|PALB2-related disorder [RCV004535111]|not specified [RCV000614133] Chr16:23629877 [GRCh38]
Chr16:23641198 [GRCh37]
Chr16:16p12.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.2067G>A (p.Ser689=) single nucleotide variant Carcinoma of colon [RCV001356268]|Familial cancer of breast [RCV000197495]|Fanconi anemia complementation group N [RCV001119747]|Hereditary cancer-predisposing syndrome [RCV000165391]|PALB2-related disorder [RCV004535112]|not provided [RCV001284030]|not specified [RCV000420216] Chr16:23630087 [GRCh38]
Chr16:23641408 [GRCh37]
Chr16:16p12.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.980G>A (p.Cys327Tyr) single nucleotide variant Familial cancer of breast [RCV000460541]|Hereditary cancer-predisposing syndrome [RCV000165411]|not provided [RCV001836740] Chr16:23635566 [GRCh38]
Chr16:23646887 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.3418T>G (p.Trp1140Gly) single nucleotide variant Familial cancer of breast [RCV000195510]|Familial cancer of breast [RCV002478497]|Hereditary cancer-predisposing syndrome [RCV000162652]|Malignant tumor of breast [RCV001358491]|not provided [RCV000236626] Chr16:23603602 [GRCh38]
Chr16:23614923 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.3525A>G (p.Gln1175=) single nucleotide variant Familial cancer of breast [RCV000470645]|Hereditary cancer-predisposing syndrome [RCV000162726]|PALB2-related disorder [RCV004544483] Chr16:23603495 [GRCh38]
Chr16:23614816 [GRCh37]
Chr16:16p12.2		 benign|likely benign|uncertain significance
NM_024675.4(PALB2):c.2082A>G (p.Thr694=) single nucleotide variant Familial cancer of breast [RCV000205968]|Fanconi anemia complementation group N [RCV005394574]|Hereditary cancer-predisposing syndrome [RCV000162752]|PALB2-related disorder [RCV004535058]|not provided [RCV000759184]|not specified [RCV000507922] Chr16:23630072 [GRCh38]
Chr16:23641393 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.3287A>G (p.Asn1096Ser) single nucleotide variant Familial cancer of breast [RCV001030403]|Hereditary cancer-predisposing syndrome [RCV000162754] Chr16:23607927 [GRCh38]
Chr16:23619248 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.3203G>C (p.Gly1068Ala) single nucleotide variant Familial cancer of breast [RCV000463764]|Hereditary cancer-predisposing syndrome [RCV000165472] Chr16:23608011 [GRCh38]
Chr16:23619332 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.3351-5A>C single nucleotide variant Familial cancer of breast [RCV000526871]|Hereditary cancer-predisposing syndrome [RCV000165540] Chr16:23603674 [GRCh38]
Chr16:23614995 [GRCh37]
Chr16:16p12.2		 likely benign
NM_024675.4(PALB2):c.2810G>A (p.Gly937Glu) single nucleotide variant Familial cancer of breast [RCV000206821]|Familial pancreatic carcinoma [RCV005359513]|Hereditary cancer-predisposing syndrome [RCV000165549] Chr16:23624033 [GRCh38]
Chr16:23635354 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2748+1G>T single nucleotide variant Familial cancer of breast [RCV000635768]|Hereditary breast ovarian cancer syndrome [RCV003155927]|Hereditary cancer-predisposing syndrome [RCV000165555]|not provided [RCV000487378] Chr16:23626235 [GRCh38]
Chr16:23637556 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic
NM_024675.4(PALB2):c.210A>C (p.Ser70=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000165562] Chr16:23637851 [GRCh38]
Chr16:23649172 [GRCh37]
Chr16:16p12.2		 likely benign
NM_024675.4(PALB2):c.2418G>A (p.Pro806=) single nucleotide variant Familial cancer of breast [RCV000233118]|Hereditary cancer-predisposing syndrome [RCV000162786]|not provided [RCV001721029]|not specified [RCV000426070] Chr16:23629736 [GRCh38]
Chr16:23641057 [GRCh37]
Chr16:16p12.2		 likely pathogenic|benign|likely benign
NM_024675.4(PALB2):c.2244A>G (p.Thr748=) single nucleotide variant Familial cancer of breast [RCV000211088]|Hereditary cancer-predisposing syndrome [RCV000163058]|not provided [RCV000759186]|not specified [RCV000600407] Chr16:23629910 [GRCh38]
Chr16:23641231 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.2601C>T (p.Ser867=) single nucleotide variant Familial cancer of breast [RCV005425750]|Hereditary cancer-predisposing syndrome [RCV000163108] Chr16:23626383 [GRCh38]
Chr16:23637704 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.2986G>T (p.Glu996Ter) single nucleotide variant Familial cancer of breast [RCV000227242]|Hereditary cancer-predisposing syndrome [RCV000167226]|Malignant tumor of breast [RCV002271440]|not provided [RCV000485825] Chr16:23622979 [GRCh38]
Chr16:23634300 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic
NM_024675.4(PALB2):c.423G>A (p.Gln141=) single nucleotide variant Familial cancer of breast [RCV000409495]|Hereditary cancer-predisposing syndrome [RCV000165612]|PALB2-related disorder [RCV004535115]|not provided [RCV001721073]|not specified [RCV004782271] Chr16:23636123 [GRCh38]
Chr16:23647444 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.1662A>G (p.Glu554=) single nucleotide variant Breast and/or ovarian cancer [RCV003491900]|Familial cancer of breast [RCV000462332]|Hereditary cancer-predisposing syndrome [RCV000165629]|not provided [RCV001567936] Chr16:23634884 [GRCh38]
Chr16:23646205 [GRCh37]
Chr16:16p12.2		 benign|likely benign|uncertain significance
NM_024675.4(PALB2):c.3433G>A (p.Gly1145Ser) single nucleotide variant Familial cancer of breast [RCV000798287]|Hereditary cancer-predisposing syndrome [RCV000165631]|not provided [RCV004998336] Chr16:23603587 [GRCh38]
Chr16:23614908 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1454C>T (p.Thr485Ile) single nucleotide variant Carcinoma of colon [RCV001030228]|Familial cancer of breast [RCV000205126]|Hereditary cancer-predisposing syndrome [RCV000165637]|not specified [RCV000507136] Chr16:23635092 [GRCh38]
Chr16:23646413 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.495C>T (p.Gly165=) single nucleotide variant Bile duct cancer [RCV001357741]|Familial cancer of breast [RCV000532734]|Fanconi anemia complementation group N [RCV001119841]|Hereditary cancer-predisposing syndrome [RCV000165654]|not provided [RCV000679773]|not specified [RCV000444952] Chr16:23636051 [GRCh38]
Chr16:23647372 [GRCh37]
Chr16:16p12.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.1505A>G (p.Lys502Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000165659] Chr16:23635041 [GRCh38]
Chr16:23646362 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2955T>G (p.Ser985=) single nucleotide variant Familial cancer of breast [RCV000200287]|Hereditary breast ovarian cancer syndrome [RCV005359417]|Hereditary cancer-predisposing syndrome [RCV000163267]|not provided [RCV003477589]|not specified [RCV000612434] Chr16:23623010 [GRCh38]
Chr16:23634331 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.940C>T (p.Gln314Ter) single nucleotide variant Familial cancer of breast [RCV000463323]|Hereditary breast ovarian cancer syndrome [RCV000586368]|Hereditary cancer-predisposing syndrome [RCV000167296]|not provided [RCV000523563] Chr16:23635606 [GRCh38]
Chr16:23646927 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic
NM_024675.4(PALB2):c.339A>C (p.Pro113=) single nucleotide variant Familial cancer of breast [RCV000921954]|Hereditary cancer-predisposing syndrome [RCV000167306]|PALB2-related disorder [RCV004539567]|not provided [RCV001636704]|not specified [RCV000781691] Chr16:23636207 [GRCh38]
Chr16:23647528 [GRCh37]
Chr16:16p12.2		 benign|likely benign|uncertain significance
NM_024675.4(PALB2):c.2382G>A (p.Arg794=) single nucleotide variant Familial cancer of breast [RCV002053993]|Hereditary cancer-predisposing syndrome [RCV000167317] Chr16:23629772 [GRCh38]
Chr16:23641093 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.637G>C (p.Val213Leu) single nucleotide variant Familial cancer of breast [RCV000635925]|Familial cancer of breast [RCV002485041]|Hereditary cancer-predisposing syndrome [RCV000167372]|not specified [RCV001193467] Chr16:23635909 [GRCh38]
Chr16:23647230 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1433C>T (p.Ser478Phe) single nucleotide variant Familial cancer of breast [RCV001350067]|Hereditary cancer-predisposing syndrome [RCV000167376]|not specified [RCV001778766] Chr16:23635113 [GRCh38]
Chr16:23646434 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2902G>A (p.Ala968Thr) single nucleotide variant Familial cancer of breast [RCV001850325]|Hereditary cancer-predisposing syndrome [RCV000165827] Chr16:23623063 [GRCh38]
Chr16:23634384 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.9G>T (p.Glu3Asp) single nucleotide variant Familial cancer of breast [RCV001036481]|Hereditary cancer-predisposing syndrome [RCV000165831]|not provided [RCV001564218]|not specified [RCV001194141] Chr16:23641149 [GRCh38]
Chr16:23652470 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.538G>A (p.Glu180Lys) single nucleotide variant Familial cancer of breast [RCV000700154]|Hereditary cancer-predisposing syndrome [RCV000165834]|not provided [RCV004777609] Chr16:23636008 [GRCh38]
Chr16:23647329 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2311A>G (p.Ser771Gly) single nucleotide variant Familial cancer of breast [RCV000411000]|Hereditary cancer-predisposing syndrome [RCV000165876]|not specified [RCV001824655] Chr16:23629843 [GRCh38]
Chr16:23641164 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1030A>G (p.Asn344Asp) single nucleotide variant Familial cancer of breast [RCV000230594]|Hereditary cancer-predisposing syndrome [RCV000165880]|not provided [RCV004692776] Chr16:23635516 [GRCh38]
Chr16:23646837 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.3282G>A (p.Val1094=) single nucleotide variant Familial cancer of breast [RCV000411397]|Hereditary cancer-predisposing syndrome [RCV000163456]|not provided [RCV001721045] Chr16:23607932 [GRCh38]
Chr16:23619253 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.3069A>G (p.Gln1023=) single nucleotide variant Familial cancer of breast [RCV000931143]|Hereditary cancer-predisposing syndrome [RCV000163477] Chr16:23621406 [GRCh38]
Chr16:23632727 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.2130G>A (p.Thr710=) single nucleotide variant Familial cancer of breast [RCV000635758]|Hereditary cancer-predisposing syndrome [RCV000163496]|not provided [RCV000486987]|not specified [RCV000781696] Chr16:23630024 [GRCh38]
Chr16:23641345 [GRCh37]
Chr16:16p12.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.2747_2748+4del deletion Familial cancer of breast [RCV000552616]|Fanconi anemia complementation group N [RCV005396496]|Hereditary cancer-predisposing syndrome [RCV000167394]|not provided [RCV000708616] Chr16:23626232..23626237 [GRCh38]
Chr16:23637553..23637558 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic
NM_024675.4(PALB2):c.1766C>T (p.Thr589Met) single nucleotide variant Carcinoma of colon [RCV001030258]|Familial cancer of breast [RCV000474329]|Hereditary cancer-predisposing syndrome [RCV000167418]|Malignant tumor of breast [RCV001357624]|PALB2-related disorder [RCV004739545]|not provided [RCV000479496]|not specified [RCV001175052] Chr16:23630388 [GRCh38]
Chr16:23641709 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.1881G>A (p.Val627=) single nucleotide variant Familial cancer of breast [RCV001087589]|Hereditary cancer-predisposing syndrome [RCV000167465]|Pancreatic cancer, susceptibility to, 3 [RCV005365097]|not provided [RCV000636028]|not specified [RCV000608586] Chr16:23630273 [GRCh38]
Chr16:23641594 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.3114-5C>T single nucleotide variant Familial cancer of breast [RCV000934763]|Hereditary cancer-predisposing syndrome [RCV000167480]|not provided [RCV001775654] Chr16:23614096 [GRCh38]
Chr16:23625417 [GRCh37]
Chr16:16p12.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.1958G>A (p.Cys653Tyr) single nucleotide variant Familial cancer of breast [RCV000456974]|Hereditary cancer-predisposing syndrome [RCV000167483] Chr16:23630196 [GRCh38]
Chr16:23641517 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.2985A>T (p.Ala995=) single nucleotide variant Familial cancer of breast [RCV001430096]|Familial cancer of breast [RCV002492665]|Hereditary cancer-predisposing syndrome [RCV000165948]|not provided [RCV000924813] Chr16:23622980 [GRCh38]
Chr16:23634301 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.1691A>G (p.Lys564Arg) single nucleotide variant Familial cancer of breast [RCV000197146]|Hereditary cancer-predisposing syndrome [RCV000165968]|not provided [RCV001030253] Chr16:23630463 [GRCh38]
Chr16:23641784 [GRCh37]
Chr16:16p12.2		 pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.2649A>G (p.Lys883=) single nucleotide variant Familial cancer of breast [RCV000636025]|Hereditary cancer-predisposing syndrome [RCV000166006] Chr16:23626335 [GRCh38]
Chr16:23637656 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.1252A>G (p.Asn418Asp) single nucleotide variant Familial cancer of breast [RCV000228629]|Fanconi anemia complementation group N [RCV005016498]|Hereditary cancer-predisposing syndrome [RCV000166018]|not provided [RCV001775647] Chr16:23635294 [GRCh38]
Chr16:23646615 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.2913C>A (p.Gly971=) single nucleotide variant Familial cancer of breast [RCV001445382]|Hereditary cancer-predisposing syndrome [RCV000163520] Chr16:23623052 [GRCh38]
Chr16:23634373 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.312T>C (p.Pro104=) single nucleotide variant Breast and/or ovarian cancer [RCV003150001]|Familial cancer of breast [RCV001082844]|Hereditary cancer-predisposing syndrome [RCV000163526]|not provided [RCV000679769]|not specified [RCV000421791] Chr16:23636234 [GRCh38]
Chr16:23647555 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.1033T>C (p.Leu345=) single nucleotide variant Familial cancer of breast [RCV000472210]|Hereditary cancer-predisposing syndrome [RCV000163534]|not provided [RCV001571618]|not specified [RCV001030194] Chr16:23635513 [GRCh38]
Chr16:23646834 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.843T>C (p.Ile281=) single nucleotide variant Familial cancer of breast [RCV002516452]|Hereditary cancer-predisposing syndrome [RCV000163567] Chr16:23635703 [GRCh38]
Chr16:23647024 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.768C>T (p.Ser256=) single nucleotide variant Breast and/or ovarian cancer [RCV003150004]|Breast-ovarian cancer, familial, susceptibility to, 5 [RCV005235060]|Familial cancer of breast [RCV000206372]|Hereditary cancer-predisposing syndrome [RCV000163571]|Malignant tumor of breast [RCV001354332]|PALB2-related disorder [RCV004535077]|not provided [RCV000587304]|not specified [RCV001818368] Chr16:23635778 [GRCh38]
Chr16:23647099 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.1272C>T (p.Ala424=) single nucleotide variant Familial cancer of breast [RCV000410129]|Familial cancer of breast [RCV002478498]|Hereditary cancer-predisposing syndrome [RCV000163630]|not provided [RCV001281734]|not specified [RCV000430438] Chr16:23635274 [GRCh38]
Chr16:23646595 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.1014A>G (p.Pro338=) single nucleotide variant Familial cancer of breast [RCV001496214]|Hereditary cancer-predisposing syndrome [RCV000163646] Chr16:23635532 [GRCh38]
Chr16:23646853 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.3297G>A (p.Thr1099=) single nucleotide variant Breast-ovarian cancer, familial, susceptibility to, 5 [RCV003316004]|Familial cancer of breast [RCV000199114]|Familial cancer of breast [RCV002498809]|Familial ovarian cancer [RCV003447509]|Hereditary cancer-predisposing syndrome [RCV000163669]|PALB2-related disorder [RCV004539536]|not provided [RCV001704173]|not specified [RCV000436143] Chr16:23607917 [GRCh38]
Chr16:23619238 [GRCh37]
Chr16:16p12.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_024675.4(PALB2):c.2336C>G (p.Ser779Ter) single nucleotide variant Familial cancer of breast [RCV000457524]|Hereditary breast ovarian cancer syndrome [RCV003226227]|Hereditary cancer-predisposing syndrome [RCV000166057]|PALB2-related disorder [RCV004528915]|not provided [RCV000480723] Chr16:23629818 [GRCh38]
Chr16:23641139 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic
NM_024675.4(PALB2):c.1539A>T (p.Thr513=) single nucleotide variant Familial cancer of breast [RCV002516494]|Hereditary cancer-predisposing syndrome [RCV000166064] Chr16:23635007 [GRCh38]
Chr16:23646328 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.1272C>G (p.Ala424=) single nucleotide variant Familial cancer of breast [RCV001473404]|Hereditary cancer-predisposing syndrome [RCV000166069]|not specified [RCV000442090] Chr16:23635274 [GRCh38]
Chr16:23646595 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.2134G>C (p.Ala712Pro) single nucleotide variant Familial cancer of breast [RCV000459199]|Familial cancer of breast [RCV002485027]|Hereditary cancer-predisposing syndrome [RCV000166087] Chr16:23630020 [GRCh38]
Chr16:23641341 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.1395G>A (p.Met465Ile) single nucleotide variant Familial cancer of breast [RCV000635660]|Hereditary cancer-predisposing syndrome [RCV000166131] Chr16:23635151 [GRCh38]
Chr16:23646472 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2701C>G (p.Leu901Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000166144] Chr16:23626283 [GRCh38]
Chr16:23637604 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.739A>G (p.Thr247Ala) single nucleotide variant Familial cancer of breast [RCV000459460]|Familial cancer of breast [RCV002485029]|Hereditary cancer-predisposing syndrome [RCV000166174] Chr16:23635807 [GRCh38]
Chr16:23647128 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.1755T>C (p.Asp585=) single nucleotide variant Familial cancer of breast [RCV000980044]|Hereditary cancer-predisposing syndrome [RCV000166184]|not specified [RCV000609583] Chr16:23630399 [GRCh38]
Chr16:23641720 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.1291_1292del (p.His432fs) microsatellite Breast-ovarian cancer, familial, susceptibility to, 5 [RCV005256573]|Familial cancer of breast [RCV000635659]|Hereditary cancer-predisposing syndrome [RCV000166194]|not provided [RCV000657306] Chr16:23635254..23635255 [GRCh38]
Chr16:23646575..23646576 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.1748T>C (p.Leu583Ser) single nucleotide variant Familial cancer of breast [RCV000464125]|Fanconi anemia complementation group N [RCV005016500]|Hereditary cancer-predisposing syndrome [RCV000166198]|not provided [RCV000996241]|not specified [RCV005230014] Chr16:23630406 [GRCh38]
Chr16:23641727 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.957T>C (p.Ser319=) single nucleotide variant Familial cancer of breast [RCV002516497]|Hereditary cancer-predisposing syndrome [RCV000166224] Chr16:23635589 [GRCh38]
Chr16:23646910 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.142A>G (p.Ile48Val) single nucleotide variant Familial cancer of breast [RCV000200742]|Hereditary cancer-predisposing syndrome [RCV000166309]|not provided [RCV000213155] Chr16:23637919 [GRCh38]
Chr16:23649240 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2881C>T (p.Leu961=) single nucleotide variant Familial cancer of breast [RCV001082547]|Familial cancer of breast [RCV002498824]|Fanconi anemia complementation group N [RCV000314489]|Fanconi anemia complementation group N [RCV005396488]|Hereditary cancer-predisposing syndrome [RCV000166333]|not provided [RCV000586278]|not specified [RCV000440818] Chr16:23623084 [GRCh38]
Chr16:23634405 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.1481C>A (p.Thr494Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000166342] Chr16:23635065 [GRCh38]
Chr16:23646386 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1311A>G (p.Lys437=) single nucleotide variant Breast and/or ovarian cancer [RCV001798577]|Familial cancer of breast [RCV000409601]|Fanconi anemia complementation group N [RCV005394596]|Hereditary cancer-predisposing syndrome [RCV000163802]|PALB2-related disorder [RCV004535084]|not provided [RCV001284668]|not specified [RCV000780558] Chr16:23635235 [GRCh38]
Chr16:23646556 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.405T>C (p.Pro135=) single nucleotide variant Familial cancer of breast [RCV000525958]|Hereditary cancer-predisposing syndrome [RCV000163924]|not provided [RCV001357587]|not specified [RCV000433802] Chr16:23636141 [GRCh38]
Chr16:23647462 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.3201+2dup duplication Familial cancer of breast [RCV001046380]|Hereditary cancer-predisposing syndrome [RCV000166354]|not provided [RCV001557148] Chr16:23614001..23614002 [GRCh38]
Chr16:23625322..23625323 [GRCh37]
Chr16:16p12.2		 likely pathogenic|uncertain significance
NM_024675.4(PALB2):c.1526G>A (p.Gly509Asp) single nucleotide variant Familial cancer of breast [RCV000458684]|Familial cancer of breast [RCV000765273]|Hereditary cancer-predisposing syndrome [RCV000166375]|not specified [RCV002228767] Chr16:23635020 [GRCh38]
Chr16:23646341 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.1026C>G (p.Asn342Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000166424] Chr16:23635520 [GRCh38]
Chr16:23646841 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1790T>G (p.Met597Arg) single nucleotide variant Familial cancer of breast [RCV000168192]|Hereditary cancer-predisposing syndrome [RCV000166427]|not provided [RCV001775650] Chr16:23630364 [GRCh38]
Chr16:23641685 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.829G>A (p.Asp277Asn) single nucleotide variant Carcinoma of colon [RCV001030179]|Familial cancer of breast [RCV000477600]|Fanconi anemia complementation group N [RCV001336120]|Hereditary cancer-predisposing syndrome [RCV000166462]|not provided [RCV000235601] Chr16:23635717 [GRCh38]
Chr16:23647038 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.1914_1929del (p.Phe638fs) deletion Hereditary cancer-predisposing syndrome [RCV000166469] Chr16:23630225..23630240 [GRCh38]
Chr16:23641546..23641561 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.49-2A>T single nucleotide variant Familial cancer of breast [RCV000198571]|Hereditary cancer-predisposing syndrome [RCV000166471]|not provided [RCV004719727] Chr16:23638131 [GRCh38]
Chr16:23649452 [GRCh37]
Chr16:16p12.2		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.813T>A (p.Ser271Arg) single nucleotide variant Familial cancer of breast [RCV000556676]|Hereditary cancer-predisposing syndrome [RCV000166472]|not provided [RCV001555224]|not specified [RCV001193465] Chr16:23635733 [GRCh38]
Chr16:23647054 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.843_845del (p.Arg282del) deletion Familial cancer of breast [RCV000476802]|Hereditary cancer-predisposing syndrome [RCV000166474]|not provided [RCV003237755] Chr16:23635701..23635703 [GRCh38]
Chr16:23647022..23647024 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2882T>C (p.Leu961Pro) single nucleotide variant Familial cancer of breast [RCV000196629]|Hereditary cancer-predisposing syndrome [RCV000166475] Chr16:23623083 [GRCh38]
Chr16:23634404 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2228A>G (p.Tyr743Cys) single nucleotide variant Breast and/or ovarian cancer [RCV003150010]|Familial cancer of breast [RCV000197626]|Familial pancreatic carcinoma [RCV005359455]|Fanconi anemia complementation group N [RCV000296163]|Hereditary breast ovarian cancer syndrome [RCV001030648]|Hereditary cancer-predisposing syndrome [RCV000164010]|not provided [RCV000255110]|not specified [RCV000781684] Chr16:23629926 [GRCh38]
Chr16:23641247 [GRCh37]
Chr16:16p12.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.2569T>C (p.Leu857=) single nucleotide variant Familial cancer of breast [RCV001490279]|Hereditary cancer-predisposing syndrome [RCV000164027] Chr16:23629221 [GRCh38]
Chr16:23640542 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.2337A>C (p.Ser779=) single nucleotide variant Familial cancer of breast [RCV000211059]|Hereditary cancer-predisposing syndrome [RCV000164043] Chr16:23629817 [GRCh38]
Chr16:23641138 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.195G>A (p.Pro65=) single nucleotide variant Familial cancer of breast [RCV000204765]|Familial cancer of breast [RCV002505204]|Hereditary cancer-predisposing syndrome [RCV000164062]|PALB2-related disorder [RCV004535090]|not provided [RCV000759183]|not specified [RCV000438495] Chr16:23637866 [GRCh38]
Chr16:23649187 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.2792T>G (p.Leu931Arg) single nucleotide variant Breast-ovarian cancer, familial, susceptibility to, 5 [RCV003389046]|Familial cancer of breast [RCV000408812]|Hereditary cancer-predisposing syndrome [RCV000166492]|Malignant tumor of breast [RCV001354782]|not provided [RCV000483646]|not specified [RCV002298494] Chr16:23624051 [GRCh38]
Chr16:23635372 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.2597G>A (p.Gly866Asp) single nucleotide variant Familial cancer of breast [RCV000635797]|Hereditary cancer-predisposing syndrome [RCV000166501]|not provided [RCV005414475] Chr16:23626387 [GRCh38]
Chr16:23637708 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2344C>T (p.Pro782Ser) single nucleotide variant Familial cancer of breast [RCV000470017]|Familial cancer of breast [RCV002492670]|Hereditary cancer-predisposing syndrome [RCV000166543]|Malignant tumor of breast [RCV001355915]|not provided [RCV000478256]|not specified [RCV003479039] Chr16:23629810 [GRCh38]
Chr16:23641131 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.993A>G (p.Glu331=) single nucleotide variant Breast-ovarian cancer, familial, susceptibility to, 5 [RCV005235075]|Familial cancer of breast [RCV000411791]|Fanconi anemia complementation group N [RCV005396490]|Hereditary cancer-predisposing syndrome [RCV000166544] Chr16:23635553 [GRCh38]
Chr16:23646874 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.1852G>A (p.Asp618Asn) single nucleotide variant Familial cancer of breast [RCV001246033]|Hereditary cancer-predisposing syndrome [RCV000166567] Chr16:23630302 [GRCh38]
Chr16:23641623 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.101G>T (p.Arg34Leu) single nucleotide variant Familial cancer of breast [RCV000456690]|Familial cancer of breast [RCV002498826]|Hereditary cancer-predisposing syndrome [RCV000166587]|not provided [RCV000520497] Chr16:23638077 [GRCh38]
Chr16:23649398 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.3520G>A (p.Gly1174Arg) single nucleotide variant Familial cancer of breast [RCV000469459]|Hereditary cancer-predisposing syndrome [RCV000166607] Chr16:23603500 [GRCh38]
Chr16:23614821 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.3244A>G (p.Ser1082Gly) single nucleotide variant Familial cancer of breast [RCV000232382]|Familial cancer of breast [RCV002505212]|Hereditary cancer-predisposing syndrome [RCV000166614]|not provided [RCV004998351] Chr16:23607970 [GRCh38]
Chr16:23619291 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.1616_1617dup (p.Asn540fs) duplication Familial cancer of breast [RCV000815197]|Familial cancer of breast [RCV003483548]|Hereditary cancer-predisposing syndrome [RCV000166617]|PALB2-related disorder [RCV004724960] Chr16:23634928..23634929 [GRCh38]
Chr16:23646249..23646250 [GRCh37]
Chr16:16p12.2		 pathogenic|not provided
NM_024675.4(PALB2):c.1920A>T (p.Ser640=) single nucleotide variant Familial cancer of breast [RCV000474783]|Hereditary cancer-predisposing syndrome [RCV000164122]|not specified [RCV001527022] Chr16:23630234 [GRCh38]
Chr16:23641555 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.84C>T (p.Tyr28=) single nucleotide variant Breast-ovarian cancer, familial, susceptibility to, 5 [RCV003316018]|Familial cancer of breast [RCV000195762]|Hereditary cancer-predisposing syndrome [RCV000164145]|not provided [RCV000679774]|not specified [RCV000428315] Chr16:23638094 [GRCh38]
Chr16:23649415 [GRCh37]
Chr16:16p12.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_024675.4(PALB2):c.2100A>T (p.Ser700=) single nucleotide variant Familial cancer of breast [RCV000200038]|Fanconi anemia complementation group N [RCV000347505]|Hereditary cancer-predisposing syndrome [RCV000164155]|PALB2-related disorder [RCV004539543]|not provided [RCV001358505]|not specified [RCV000611803] Chr16:23630054 [GRCh38]
Chr16:23641375 [GRCh37]
Chr16:16p12.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.1647_1648del (p.His549fs) microsatellite Familial cancer of breast [RCV004589745]|Hereditary cancer-predisposing syndrome [RCV000164237] Chr16:23634898..23634899 [GRCh38]
Chr16:23646219..23646220 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.2524_2535delinsTCAGA (p.Ala842fs) indel Familial cancer of breast [RCV003162710]|Hereditary cancer-predisposing syndrome [RCV000166663] Chr16:23629255..23629266 [GRCh38]
Chr16:23640576..23640587 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.1085_1086del (p.Leu362fs) deletion Familial cancer of breast [RCV000688589]|Hereditary cancer-predisposing syndrome [RCV000166687] Chr16:23635460..23635461 [GRCh38]
Chr16:23646781..23646782 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.610T>G (p.Ser204Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000166705] Chr16:23635936 [GRCh38]
Chr16:23647257 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.242A>G (p.Lys81Arg) single nucleotide variant Familial cancer of breast [RCV001246886]|Hereditary cancer-predisposing syndrome [RCV000166745] Chr16:23636304 [GRCh38]
Chr16:23647625 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.266A>G (p.Asp89Gly) single nucleotide variant Familial cancer of breast [RCV002517613]|Hereditary cancer-predisposing syndrome [RCV000164258] Chr16:23636280 [GRCh38]
Chr16:23647601 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1421G>A (p.Ser474Asn) single nucleotide variant Familial cancer of breast [RCV000693357]|Hereditary cancer-predisposing syndrome [RCV000164284]|not provided [RCV000235242] Chr16:23635125 [GRCh38]
Chr16:23646446 [GRCh37]
Chr16:16p12.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.1692A>G (p.Lys564=) single nucleotide variant Familial cancer of breast [RCV001436402]|Hereditary cancer-predisposing syndrome [RCV000164335]|not specified [RCV000418479] Chr16:23630462 [GRCh38]
Chr16:23641783 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.2478C>T (p.Asn826=) single nucleotide variant Familial cancer of breast [RCV000206600]|Hereditary cancer-predisposing syndrome [RCV000164395]|PALB2-related disorder [RCV004535097]|not specified [RCV000435545] Chr16:23629676 [GRCh38]
Chr16:23640997 [GRCh37]
Chr16:16p12.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_024675.4(PALB2):c.3244_3245del (p.Glu1081_Ser1082insTer) microsatellite Breast-ovarian cancer, familial, susceptibility to, 5 [RCV004992136]|Familial cancer of breast [RCV000470633]|Hereditary breast ovarian cancer syndrome [RCV001778875]|Hereditary cancer-predisposing syndrome [RCV000568838]|PALB2-related disorder [RCV004535238]|not provided [RCV000254912] Chr16:23607969..23607970 [GRCh38]
Chr16:23619290..23619291 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic
NM_024675.4(PALB2):c.1496T>A (p.Leu499Ter) single nucleotide variant Familial cancer of breast [RCV001390098]|not provided [RCV000254924] Chr16:23635050 [GRCh38]
Chr16:23646371 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic
NM_024675.4(PALB2):c.3234T>A (p.Cys1078Ter) single nucleotide variant Familial cancer of breast [RCV001855013]|Hereditary cancer-predisposing syndrome [RCV001525205]|not provided [RCV000254975] Chr16:23607980 [GRCh38]
Chr16:23619301 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic
NM_024675.4(PALB2):c.2368C>T (p.Gln790Ter) single nucleotide variant Familial cancer of breast [RCV000552634]|Fanconi anemia [RCV000509375]|Hereditary breast ovarian cancer syndrome [RCV003155937]|Hereditary cancer-predisposing syndrome [RCV000454204]|not provided [RCV000255054] Chr16:23629786 [GRCh38]
Chr16:23641107 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic|not provided
NM_024675.4(PALB2):c.2996+1G>T single nucleotide variant Familial cancer of breast [RCV001379452]|Hereditary cancer-predisposing syndrome [RCV001017834]|not provided [RCV000255151] Chr16:23622968 [GRCh38]
Chr16:23634289 [GRCh37]
Chr16:16p12.2		 likely pathogenic
NM_024675.4(PALB2):c.1424C>G (p.Ser475Ter) single nucleotide variant Familial cancer of breast [RCV001066196]|Hereditary cancer-predisposing syndrome [RCV002392782]|not provided [RCV000255228] Chr16:23635122 [GRCh38]
Chr16:23646443 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic
NM_024675.4(PALB2):c.2597del (p.Gly866fs) deletion Familial cancer of breast [RCV000168153] Chr16:23626387 [GRCh38]
Chr16:23637708 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.1659C>A (p.His553Gln) single nucleotide variant Familial cancer of breast [RCV000168288]|Hereditary cancer-predisposing syndrome [RCV000582233]|not provided [RCV000519942] Chr16:23634887 [GRCh38]
Chr16:23646208 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.2671T>A (p.Cys891Ser) single nucleotide variant Familial cancer of breast [RCV000168304]|Hereditary cancer-predisposing syndrome [RCV002426800] Chr16:23626313 [GRCh38]
Chr16:23637634 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.3(PALB2):c.2587-?_*(1_?)del deletion Familial cancer of breast [RCV000168323] Chr16:23603458..23626397 [GRCh38]
Chr16:23614779..23637718 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.1241G>A (p.Arg414Gln) single nucleotide variant Familial cancer of breast [RCV000168333]|Familial pancreatic carcinoma [RCV005365098]|Hereditary cancer-predisposing syndrome [RCV000561279]|PALB2-related disorder [RCV004739549]|not provided [RCV000478331]|not specified [RCV001818405] Chr16:23635305 [GRCh38]
Chr16:23646626 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1487A>G (p.Asp496Gly) single nucleotide variant Familial cancer of breast [RCV000168368]|Hereditary cancer-predisposing syndrome [RCV000575875]|not provided [RCV003228909] Chr16:23635059 [GRCh38]
Chr16:23646380 [GRCh37]
Chr16:16p12.2		 uncertain significance
NC_000016.10:g.(?_23603458)_(23603669_?)del deletion Familial cancer of breast [RCV000168419] Chr16:23603458..23603669 [GRCh38]
Chr16:23614779..23614990 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.1115G>C (p.Ser372Thr) single nucleotide variant Familial cancer of breast [RCV000168425]|Familial cancer of breast [RCV000765277]|Hereditary cancer-predisposing syndrome [RCV000774638] Chr16:23635431 [GRCh38]
Chr16:23646752 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.2896A>G (p.Ile966Val) single nucleotide variant Breast-ovarian cancer, familial, susceptibility to, 5 [RCV003315417]|Familial cancer of breast [RCV000168443]|Familial cancer of breast [RCV002492681]|Fanconi anemia complementation group N [RCV000282581]|Hereditary cancer-predisposing syndrome [RCV000220514]|not provided [RCV000483896]|not specified [RCV003114319] Chr16:23623069 [GRCh38]
Chr16:23634390 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.3:c.3495T>G single nucleotide variant Familial cancer of breast [RCV000211056] Chr16:23603525 [GRCh38]
Chr16:23614846 [GRCh37]
Chr16:16p12.2		 likely benign
NM_024675.4(PALB2):c.2755G>A (p.Val919Ile) single nucleotide variant Breast and/or ovarian cancer [RCV003150103]|Chordoma [RCV002266935]|Familial cancer of breast [RCV000211057]|Fanconi anemia complementation group N [RCV005016571]|Hereditary cancer-predisposing syndrome [RCV000454132]|not provided [RCV000478723]|not specified [RCV002465567] Chr16:23624088 [GRCh38]
Chr16:23635409 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.3366C>A (p.Asp1122Glu) single nucleotide variant Familial cancer of breast [RCV000211062] Chr16:23603654 [GRCh38]
Chr16:23614975 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2606C>G (p.Ser869Cys) single nucleotide variant Familial cancer of breast [RCV000211067]|Hereditary cancer-predisposing syndrome [RCV000574296]|not provided [RCV000484494] Chr16:23626378 [GRCh38]
Chr16:23637699 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1194G>T (p.Val398=) single nucleotide variant Familial cancer of breast [RCV000211072]|Hereditary cancer-predisposing syndrome [RCV002336588]|not provided [RCV004998437] Chr16:23635352 [GRCh38]
Chr16:23646673 [GRCh37]
Chr16:16p12.2		 benign|likely benign|uncertain significance
NM_024675.4(PALB2):c.1478C>T (p.Pro493Leu) single nucleotide variant Familial cancer of breast [RCV000211081]|Hereditary cancer-predisposing syndrome [RCV000217376]|Pilocytic astrocytoma [RCV000761143]|not provided [RCV001582721] Chr16:23635068 [GRCh38]
Chr16:23646389 [GRCh37]
Chr16:16p12.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.2328C>T (p.Phe776=) single nucleotide variant Breast-ovarian cancer, familial, susceptibility to, 5 [RCV003316170]|Familial cancer of breast [RCV000211085]|Hereditary cancer-predisposing syndrome [RCV000223186]|not provided [RCV001723789]|not specified [RCV000442137] Chr16:23629826 [GRCh38]
Chr16:23641147 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.1947_1966dup (p.Pro656fs) duplication Familial cancer of breast [RCV000211063] Chr16:23630187..23630188 [GRCh38]
Chr16:23641508..23641509 [GRCh37]
Chr16:16p12.2		 likely pathogenic
NM_024675.4(PALB2):c.522_523del (p.Arg175fs) deletion Familial cancer of breast [RCV000211064] Chr16:23636023..23636024 [GRCh38]
Chr16:23647344..23647345 [GRCh37]
Chr16:16p12.2		 likely pathogenic
NM_024675.4(PALB2):c.1085T>C (p.Leu362Pro) single nucleotide variant Familial cancer of breast [RCV000211066] Chr16:23635461 [GRCh38]
Chr16:23646782 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2484C>T (p.Cys828=) single nucleotide variant Familial cancer of breast [RCV000211068]|Hereditary cancer-predisposing syndrome [RCV002426987]|not specified [RCV001030310] Chr16:23629670 [GRCh38]
Chr16:23640991 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.3294G>A (p.Lys1098=) single nucleotide variant Familial cancer of breast [RCV000211069] Chr16:23607920 [GRCh38]
Chr16:23619241 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.2597G>T (p.Gly866Val) single nucleotide variant Familial cancer of breast [RCV000167868]|Hereditary cancer-predisposing syndrome [RCV000579819] Chr16:23626387 [GRCh38]
Chr16:23637708 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.85A>G (p.Ser29Gly) single nucleotide variant Familial cancer of breast [RCV000167900]|Hereditary cancer-predisposing syndrome [RCV000217631]|not provided [RCV002262763] Chr16:23638093 [GRCh38]
Chr16:23649414 [GRCh37]
Chr16:16p12.2		 likely benign|uncertain significance
NM_024675.3(PALB2):c.3114-?_3350+?del deletion Familial cancer of breast [RCV000167940] Chr16:23607864..23614091 [GRCh38]
Chr16:23619185..23625412 [GRCh37]
Chr16:16p12.2		 likely pathogenic
NM_024675.4(PALB2):c.1316G>T (p.Gly439Val) single nucleotide variant Familial cancer of breast [RCV000167944]|Familial cancer of breast [RCV000765276]|Hereditary cancer-predisposing syndrome [RCV000565232]|not provided [RCV000588409]|not specified [RCV001818401] Chr16:23635230 [GRCh38]
Chr16:23646551 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.1096A>G (p.Asn366Asp) single nucleotide variant Familial cancer of breast [RCV000167975]|Hereditary cancer-predisposing syndrome [RCV000774639]|Inherited breast cancer and ovarian cancer [RCV004808606] Chr16:23635450 [GRCh38]
Chr16:23646771 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.3106G>C (p.Val1036Leu) single nucleotide variant Carcinoma of colon [RCV001030381]|Familial cancer of breast [RCV000168000]|Familial cancer of breast [RCV002485044]|Hereditary cancer-predisposing syndrome [RCV000216674]|not provided [RCV000479177]|not specified [RCV001731498] Chr16:23621369 [GRCh38]
Chr16:23632690 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.2835-1G>A single nucleotide variant Familial cancer of breast [RCV000168057]|Hereditary cancer-predisposing syndrome [RCV000454148]|PALB2-related disorder [RCV004528920]|not provided [RCV000255033] Chr16:23623131 [GRCh38]
Chr16:23634452 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic
NM_024675.4(PALB2):c.2920_2923del (p.Lys974fs) deletion Familial cancer of breast [RCV000168075] Chr16:23623042..23623045 [GRCh38]
Chr16:23634363..23634366 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.1966_1967insAGAGGAAGCTGTATTTTTC (p.Pro656fs) insertion Familial cancer of breast [RCV000168094]|Hereditary cancer-predisposing syndrome [RCV000564048] Chr16:23630187..23630188 [GRCh38]
Chr16:23641508..23641509 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.301G>C (p.Asp101His) single nucleotide variant Familial cancer of breast [RCV001234794]|Hereditary cancer-predisposing syndrome [RCV001018073]|not provided [RCV000178364] Chr16:23636245 [GRCh38]
Chr16:23647566 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2505C>T (p.Ser835=) single nucleotide variant Familial cancer of breast [RCV001085109]|Hereditary cancer-predisposing syndrome [RCV000575425]|Malignant tumor of breast [RCV001354928]|not provided [RCV000724499]|not specified [RCV003321538] Chr16:23629649 [GRCh38]
Chr16:23640970 [GRCh37]
Chr16:16p12.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.2140G>A (p.Asp714Asn) single nucleotide variant Familial cancer of breast [RCV000195423]|Familial pancreatic carcinoma [RCV005361157]|Hereditary cancer-predisposing syndrome [RCV000562225]|not provided [RCV003223619] Chr16:23630014 [GRCh38]
Chr16:23641335 [GRCh37]
Chr16:16p12.2		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.3538A>G (p.Ile1180Val) single nucleotide variant Familial cancer of breast [RCV000195715]|Familial cancer of breast [RCV002492923]|Fanconi anemia complementation group N [RCV005396619]|Hereditary cancer-predisposing syndrome [RCV000216876]|not provided [RCV000478251]|not specified [RCV001251265] Chr16:23603482 [GRCh38]
Chr16:23614803 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.1792C>T (p.Leu598=) single nucleotide variant Familial cancer of breast [RCV000195746]|Hereditary cancer-predisposing syndrome [RCV000581753]|not provided [RCV001722110]|not specified [RCV000445227] Chr16:23630362 [GRCh38]
Chr16:23641683 [GRCh37]
Chr16:16p12.2		 benign|likely benign|uncertain significance
NM_024675.4(PALB2):c.2506G>T (p.Val836Phe) single nucleotide variant Familial cancer of breast [RCV000195841]|Hereditary cancer-predisposing syndrome [RCV000584448]|not provided [RCV001030312] Chr16:23629648 [GRCh38]
Chr16:23640969 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.3260G>A (p.Ser1087Asn) single nucleotide variant Familial cancer of breast [RCV000196033]|Hereditary cancer-predisposing syndrome [RCV001019497] Chr16:23607954 [GRCh38]
Chr16:23619275 [GRCh37]
Chr16:16p12.2		 pathogenic|likely benign|uncertain significance
NM_024675.4(PALB2):c.2178T>C (p.Pro726=) single nucleotide variant Familial cancer of breast [RCV000196097]|Hereditary cancer-predisposing syndrome [RCV000568234]|not provided [RCV000841381] Chr16:23629976 [GRCh38]
Chr16:23641297 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.511T>A (p.Leu171Met) single nucleotide variant Familial cancer of breast [RCV000196309] Chr16:23636035 [GRCh38]
Chr16:23647356 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.3(PALB2):c.3114-?_3201+?dup88 duplication Familial cancer of breast [RCV000196349] Chr16:23614004..23614091 [GRCh38]
Chr16:23625325..23625412 [GRCh37]
Chr16:16p12.2		 likely pathogenic
NM_024675.4(PALB2):c.753G>C (p.Gln251His) single nucleotide variant Familial cancer of breast [RCV000196503] Chr16:23635793 [GRCh38]
Chr16:23647114 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2640C>T (p.Ala880=) single nucleotide variant Familial cancer of breast [RCV000196557]|Fanconi anemia complementation group N [RCV005396609]|Hereditary cancer-predisposing syndrome [RCV000575506] Chr16:23626344 [GRCh38]
Chr16:23637665 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.929G>A (p.Ser310Asn) single nucleotide variant Familial cancer of breast [RCV000196709]|Hereditary cancer-predisposing syndrome [RCV000570793]|PALB2-related disorder [RCV004739590]|not provided [RCV000480147]|not specified [RCV004689672] Chr16:23635617 [GRCh38]
Chr16:23646938 [GRCh37]
Chr16:16p12.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.3103A>G (p.Ile1035Val) single nucleotide variant Chordoma [RCV002266931]|Familial cancer of breast [RCV000196785]|Hereditary cancer-predisposing syndrome [RCV000220160]|not provided [RCV001797063] Chr16:23621372 [GRCh38]
Chr16:23632693 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.351T>C (p.Pro117=) single nucleotide variant Familial cancer of breast [RCV001083303]|Hereditary cancer-predisposing syndrome [RCV000566532]|not provided [RCV000679772]|not specified [RCV003323450] Chr16:23636195 [GRCh38]
Chr16:23647516 [GRCh37]
Chr16:16p12.2		 pathogenic|benign|likely benign
NM_024675.4(PALB2):c.985C>G (p.Leu329Val) single nucleotide variant Familial cancer of breast [RCV000196873]|not provided [RCV001030192] Chr16:23635561 [GRCh38]
Chr16:23646882 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.3202-9C>T single nucleotide variant Familial cancer of breast [RCV000196913]|Hereditary cancer-predisposing syndrome [RCV000579396]|Pancreatic cancer, susceptibility to, 3 [RCV001354308]|not provided [RCV001711353]|not specified [RCV001818478] Chr16:23608021 [GRCh38]
Chr16:23619342 [GRCh37]
Chr16:16p12.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_024675.4(PALB2):c.3247G>A (p.Glu1083Lys) single nucleotide variant Familial cancer of breast [RCV000196986]|Familial cancer of breast [RCV000764044]|Hereditary cancer-predisposing syndrome [RCV000574156]|See cases [RCV002252054]|not provided [RCV000480697]|not specified [RCV001194139] Chr16:23607967 [GRCh38]
Chr16:23619288 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2996+9del deletion Familial cancer of breast [RCV000197031]|Hereditary cancer-predisposing syndrome [RCV000580718]|Malignant tumor of breast [RCV001354543]|PALB2-related disorder [RCV004739585]|not provided [RCV003477663]|not specified [RCV000478607] Chr16:23622960 [GRCh38]
Chr16:23634281 [GRCh37]
Chr16:16p12.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.2176C>T (p.Pro726Ser) single nucleotide variant Breast-ovarian cancer, familial, susceptibility to, 5 [RCV005361158]|Familial cancer of breast [RCV000197340]|Hereditary cancer-predisposing syndrome [RCV000569353]|not provided [RCV001775663] Chr16:23629978 [GRCh38]
Chr16:23641299 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.2360C>T (p.Thr787Ile) single nucleotide variant Carcinoma of colon [RCV001030299]|Familial cancer of breast [RCV000197564]|Hereditary cancer-predisposing syndrome [RCV000216753]|not provided [RCV000236931]|not specified [RCV004586620] Chr16:23629794 [GRCh38]
Chr16:23641115 [GRCh37]
Chr16:16p12.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.2543A>G (p.Asp848Gly) single nucleotide variant Familial cancer of breast [RCV000197723] Chr16:23629247 [GRCh38]
Chr16:23640568 [GRCh37]
Chr16:16p12.2		 likely pathogenic|uncertain significance
NM_024675.4(PALB2):c.1839G>A (p.Gln613=) single nucleotide variant Familial cancer of breast [RCV000197939]|Familial pancreatic carcinoma [RCV005365125]|Hereditary cancer-predisposing syndrome [RCV000214157]|not specified [RCV000615484] Chr16:23630315 [GRCh38]
Chr16:23641636 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.2515-1G>C single nucleotide variant Familial cancer of breast [RCV000198016]|Hereditary cancer-predisposing syndrome [RCV000580827]|not provided [RCV000985889] Chr16:23629276 [GRCh38]
Chr16:23640597 [GRCh37]
Chr16:16p12.2		 likely pathogenic|conflicting interpretations of pathogenicity
NM_024675.4(PALB2):c.3448C>T (p.Leu1150Phe) single nucleotide variant Familial cancer of breast [RCV000198123]|Hereditary cancer-predisposing syndrome [RCV000776376]|not provided [RCV001284322] Chr16:23603572 [GRCh38]
Chr16:23614893 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.841A>T (p.Ile281Phe) single nucleotide variant Familial cancer of breast [RCV000198379]|Fanconi anemia complementation group N [RCV005396620]|Hereditary cancer-predisposing syndrome [RCV000454145]|not provided [RCV003114361] Chr16:23635705 [GRCh38]
Chr16:23647026 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2935A>C (p.Ser979Arg) single nucleotide variant Familial cancer of breast [RCV000198507] Chr16:23623030 [GRCh38]
Chr16:23634351 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2763G>C (p.Gln921His) single nucleotide variant Familial cancer of breast [RCV000198606] Chr16:23624080 [GRCh38]
Chr16:23635401 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2997-9T>C single nucleotide variant Familial cancer of breast [RCV001450160]|Hereditary cancer-predisposing syndrome [RCV001525968]|not specified [RCV001194136] Chr16:23621487 [GRCh38]
Chr16:23632808 [GRCh37]
Chr16:16p12.2		 likely benign|uncertain significance
NM_024675.4(PALB2):c.3172T>G (p.Ser1058Ala) single nucleotide variant Familial cancer of breast [RCV000198725]|Hereditary cancer-predisposing syndrome [RCV002321799] Chr16:23614033 [GRCh38]
Chr16:23625354 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2748+9del deletion Familial cancer of breast [RCV000198769] Chr16:23626227 [GRCh38]
Chr16:23637548 [GRCh37]
Chr16:16p12.2		 likely pathogenic|likely benign
NM_024675.4(PALB2):c.735G>A (p.Ala245=) single nucleotide variant Familial cancer of breast [RCV001087862]|Familial cancer of breast [RCV002478701]|Hereditary cancer-predisposing syndrome [RCV000214366]|not provided [RCV000841727] Chr16:23635811 [GRCh38]
Chr16:23647132 [GRCh37]
Chr16:16p12.2		 likely pathogenic|benign|likely benign
NM_024675.4(PALB2):c.2470dup (p.Cys824fs) duplication Breast-ovarian cancer, familial, susceptibility to, 1 [RCV003224869]|Familial cancer of breast [RCV000199043]|Hereditary cancer-predisposing syndrome [RCV000215206]|Malignant tumor of breast [RCV005237703]|not provided [RCV001268661] Chr16:23629683..23629684 [GRCh38]
Chr16:23641004..23641005 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.1093A>C (p.Arg365=) single nucleotide variant Familial cancer of breast [RCV000199103]|Hereditary cancer-predisposing syndrome [RCV000571694]|not specified [RCV000419084] Chr16:23635453 [GRCh38]
Chr16:23646774 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.3473A>G (p.His1158Arg) single nucleotide variant Breast and/or ovarian cancer [RCV001798672]|Familial cancer of breast [RCV000199321]|Hereditary cancer-predisposing syndrome [RCV000217762]|PALB2-related disorder [RCV004739589]|not provided [RCV004998415] Chr16:23603547 [GRCh38]
Chr16:23614868 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.1848T>C (p.Asp616=) single nucleotide variant Familial cancer of breast [RCV001482291]|Hereditary cancer-predisposing syndrome [RCV004943768] Chr16:23630306 [GRCh38]
Chr16:23641627 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.3(PALB2):c.2587-?_2748+?del deletion Familial cancer of breast [RCV000199582]|Hereditary cancer-predisposing syndrome [RCV000210086] Chr16:23626236..23626397 [GRCh38]
Chr16:23637557..23637718 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic
NM_024675.4(PALB2):c.380A>G (p.His127Arg) single nucleotide variant Familial cancer of breast [RCV000199860]|Hereditary cancer-predisposing syndrome [RCV001804936]|not provided [RCV001030147] Chr16:23636166 [GRCh38]
Chr16:23647487 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.3(PALB2):c.3114-?_3201+?del deletion Familial cancer of breast [RCV000199868] Chr16:23614004..23614091 [GRCh38]
Chr16:23625325..23625412 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.2229T>C (p.Tyr743=) single nucleotide variant Familial cancer of breast [RCV000199909]|Hereditary cancer-predisposing syndrome [RCV000219447] Chr16:23629925 [GRCh38]
Chr16:23641246 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.212-10del deletion Familial cancer of breast [RCV001084305]|Hereditary cancer-predisposing syndrome [RCV000580912]|PALB2-related cancer predisposition [RCV005365122]|not provided [RCV000587569]|not specified [RCV001818473] Chr16:23636344 [GRCh38]
Chr16:23647665 [GRCh37]
Chr16:16p12.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.3209T>C (p.Leu1070Pro) single nucleotide variant Breast and/or ovarian cancer [RCV003150089]|Familial cancer of breast [RCV000200608]|Familial cancer of breast [RCV002503787]|Hereditary cancer-predisposing syndrome [RCV000568710]|not provided [RCV004719744] Chr16:23608005 [GRCh38]
Chr16:23619326 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1337A>T (p.Asp446Val) single nucleotide variant Familial cancer of breast [RCV000200861]|Familial cancer of breast [RCV002492922]|Hereditary cancer-predisposing syndrome [RCV000562823]|PALB2-related disorder [RCV004530198]|Retinoblastoma [RCV000761148]|not provided [RCV000255070]|not specified [RCV001194137] Chr16:23635209 [GRCh38]
Chr16:23646530 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.2514+1G>C single nucleotide variant Familial cancer of breast [RCV001229856]|Hereditary cancer-predisposing syndrome [RCV002429197]|not provided [RCV000255296] Chr16:23629639 [GRCh38]
Chr16:23640960 [GRCh37]
Chr16:16p12.2		 likely pathogenic
NM_024675.4(PALB2):c.33_36dup (p.Glu13Ter) duplication Hereditary cancer-predisposing syndrome [RCV001180726] Chr16:23641121..23641122 [GRCh38]
Chr16:23652442..23652443 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.1580G>A (p.Cys527Tyr) single nucleotide variant Familial cancer of breast [RCV005091329]|Hereditary cancer-predisposing syndrome [RCV000561219] Chr16:23634966 [GRCh38]
Chr16:23646287 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.406A>T (p.Ser136Cys) single nucleotide variant Familial cancer of breast [RCV000542390]|Hereditary cancer-predisposing syndrome [RCV001021800]|not specified [RCV004525963] Chr16:23636140 [GRCh38]
Chr16:23647461 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.1242A>C (p.Arg414=) single nucleotide variant Familial cancer of breast [RCV000211070]|Hereditary cancer-predisposing syndrome [RCV000569226]|Malignant tumor of breast [RCV001356016]|not provided [RCV001705186] Chr16:23635304 [GRCh38]
Chr16:23646625 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.3073G>A (p.Ala1025Thr) single nucleotide variant Breast and/or ovarian cancer [RCV003491950]|Familial cancer of breast [RCV000202108]|Fanconi anemia complementation group N [RCV001116750]|Fanconi anemia complementation group N [RCV005396622]|Hereditary cancer-predisposing syndrome [RCV000213208]|not provided [RCV000479987]|not specified [RCV001174762] Chr16:23621402 [GRCh38]
Chr16:23632723 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.2756T>G (p.Val919Gly) single nucleotide variant Familial cancer of breast [RCV000258956] Chr16:23624087 [GRCh38]
Chr16:23635408 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1178A>G (p.Lys393Arg) single nucleotide variant Familial cancer of breast [RCV000204310]|Familial cancer of breast [RCV002494523]|Hereditary cancer-predisposing syndrome [RCV001010149]|not provided [RCV004767150]|not specified [RCV003488460] Chr16:23635368 [GRCh38]
Chr16:23646689 [GRCh37]
Chr16:16p12.2		 uncertain significance
NC_000016.10:g.(?_23603458)_(23614091_?)del deletion Familial cancer of breast [RCV000204353] Chr16:23603458..23614091 [GRCh38]
Chr16:23614779..23625412 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.860dup (p.Ser288fs) duplication Familial cancer of breast [RCV000204478]|Hereditary cancer-predisposing syndrome [RCV001018084]|not provided [RCV002510818] Chr16:23635685..23635686 [GRCh38]
Chr16:23647006..23647007 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_024675.4(PALB2):c.93dup (p.Leu32fs) duplication Breast-ovarian cancer, familial, susceptibility to, 5 [RCV004597760]|Familial cancer of breast [RCV000204530]|Familial cancer of breast [RCV002485348]|Hereditary cancer-predisposing syndrome [RCV000223136]|PALB2-related cancer predisposition [RCV005361189]|Pancreatic cancer, susceptibility to, 3 [RCV002288830]|not provided [RCV000236141] Chr16:23638084..23638085 [GRCh38]
Chr16:23649405..23649406 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic
GRCh37/hg19 16p13.3-11.2(chr16:102839-28327676)x3 copy number gain See cases [RCV000203445] Chr16:102839..28327676 [GRCh37]
Chr16:16p13.3-11.2		 pathogenic
NM_024675.4(PALB2):c.398G>T (p.Ser133Ile) single nucleotide variant Familial cancer of breast [RCV000204748]|Fanconi anemia complementation group N [RCV005016566]|Hereditary cancer-predisposing syndrome [RCV000575642]|Pancreatic cancer, susceptibility to, 3 [RCV005361185] Chr16:23636148 [GRCh38]
Chr16:23647469 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.2031T>C (p.Val677=) single nucleotide variant Familial cancer of breast [RCV000204811]|Hereditary cancer-predisposing syndrome [RCV000567205]|PALB2-related disorder [RCV004530246]|not provided [RCV001815251]|not specified [RCV000604788] Chr16:23630123 [GRCh38]
Chr16:23641444 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.1457A>T (p.Lys486Ile) single nucleotide variant Familial cancer of breast [RCV000205091]|Hereditary cancer-predisposing syndrome [RCV002390544]|not provided [RCV001030229]|not specified [RCV000780561] Chr16:23635089 [GRCh38]
Chr16:23646410 [GRCh37]
Chr16:16p12.2		 likely benign|uncertain significance
NM_024675.4(PALB2):c.2899A>C (p.Lys967Gln) single nucleotide variant Familial cancer of breast [RCV000205092] Chr16:23623066 [GRCh38]
Chr16:23634387 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.393G>C (p.Arg131Ser) single nucleotide variant Familial cancer of breast [RCV000205247] Chr16:23636153 [GRCh38]
Chr16:23647474 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.508A>G (p.Arg170Gly) single nucleotide variant Familial cancer of breast [RCV000205323]|Hereditary cancer-predisposing syndrome [RCV000215139]|not provided [RCV000484020]|not specified [RCV003114369] Chr16:23636038 [GRCh38]
Chr16:23647359 [GRCh37]
Chr16:16p12.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024675.3(PALB2):c.3202-?_*(1_?)del deletion Hereditary cancer-predisposing syndrome [RCV000210201] Chr16:23603458..23608012 [GRCh38]
Chr16:23614779..23619333 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.1758T>C (p.Asp586=) single nucleotide variant Familial cancer of breast [RCV001448243]|Hereditary cancer-predisposing syndrome [RCV001013048]|not specified [RCV003155124] Chr16:23630396 [GRCh38]
Chr16:23641717 [GRCh37]
Chr16:16p12.2		 risk factor|benign|likely benign
NM_024675.4(PALB2):c.541G>C (p.Glu181Gln) single nucleotide variant Familial cancer of breast [RCV000205547]|Familial cancer of breast [RCV002485341]|Hereditary cancer-predisposing syndrome [RCV000774643] Chr16:23636005 [GRCh38]
Chr16:23647326 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2469C>G (p.Leu823=) single nucleotide variant Familial cancer of breast [RCV000205616]|Hereditary cancer-predisposing syndrome [RCV000570985]|PALB2-related disorder [RCV004530233]|not provided [RCV001355858]|not specified [RCV000440482] Chr16:23629685 [GRCh38]
Chr16:23641006 [GRCh37]
Chr16:16p12.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_024675.4(PALB2):c.3103A>T (p.Ile1035Phe) single nucleotide variant Carcinoma of colon [RCV001030379]|Familial cancer of breast [RCV000205673]|Familial cancer of breast [RCV002485342]|Hereditary cancer-predisposing syndrome [RCV000565112]|not provided [RCV003153483] Chr16:23621372 [GRCh38]
Chr16:23632693 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1563C>G (p.Thr521=) single nucleotide variant Familial cancer of breast [RCV000205681]|Hereditary cancer-predisposing syndrome [RCV000563388] Chr16:23634983 [GRCh38]
Chr16:23646304 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.149A>C (p.Lys50Thr) single nucleotide variant Breast and/or ovarian cancer [RCV003491955]|Familial cancer of breast [RCV000205692]|Hereditary cancer-predisposing syndrome [RCV000221595]|Malignant tumor of breast [RCV001357513]|not provided [RCV000656934]|not specified [RCV000236334] Chr16:23637912 [GRCh38]
Chr16:23649233 [GRCh37]
Chr16:16p12.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.3373G>T (p.Asp1125Tyr) single nucleotide variant Familial cancer of breast [RCV000205701]|Hereditary cancer-predisposing syndrome [RCV000220052]|PALB2-related disorder [RCV004541293]|not provided [RCV001559044] Chr16:23603647 [GRCh38]
Chr16:23614968 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.3310G>A (p.Gly1104Ser) single nucleotide variant Familial cancer of breast [RCV000205794]|Hereditary cancer-predisposing syndrome [RCV000565663]|not provided [RCV000237061] Chr16:23607904 [GRCh38]
Chr16:23619225 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2834+2T>G single nucleotide variant Familial cancer of breast [RCV000205865] Chr16:23624007 [GRCh38]
Chr16:23635328 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic
NM_024675.4(PALB2):c.3331C>G (p.Pro1111Ala) single nucleotide variant Familial cancer of breast [RCV000205952]|Familial cancer of breast [RCV002478727]|Hereditary breast ovarian cancer syndrome [RCV004764779]|Hereditary cancer-predisposing syndrome [RCV000222857]|not provided [RCV000587389]|not specified [RCV001800527] Chr16:23607883 [GRCh38]
Chr16:23619204 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.3059A>G (p.Gln1020Arg) single nucleotide variant Familial cancer of breast [RCV000206051]|Hereditary cancer-predisposing syndrome [RCV001018358] Chr16:23621416 [GRCh38]
Chr16:23632737 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1794G>A (p.Leu598=) single nucleotide variant Familial cancer of breast [RCV000206106]|Familial cancer of breast [RCV002500643]|Hereditary cancer-predisposing syndrome [RCV000219903]|PALB2-related disorder [RCV004541287]|not provided [RCV001705169]|not specified [RCV000418143] Chr16:23630360 [GRCh38]
Chr16:23641681 [GRCh37]
Chr16:16p12.2		 pathogenic|benign|likely benign
NM_024675.4(PALB2):c.554A>G (p.Lys185Arg) single nucleotide variant Familial cancer of breast [RCV000206508]|Hereditary cancer-predisposing syndrome [RCV002345740]|not provided [RCV004772866] Chr16:23635992 [GRCh38]
Chr16:23647313 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.660T>C (p.Ser220=) single nucleotide variant Familial cancer of breast [RCV000203679]|Hereditary cancer-predisposing syndrome [RCV000570942]|Malignant tumor of breast [RCV001354997]|not provided [RCV003477705]|not specified [RCV000601651] Chr16:23635886 [GRCh38]
Chr16:23647207 [GRCh37]
Chr16:16p12.2		 benign|likely benign|uncertain significance
NM_024675.4(PALB2):c.3271C>T (p.Gln1091Ter) single nucleotide variant Breast-ovarian cancer, familial, susceptibility to, 5 [RCV004692825]|Familial cancer of breast [RCV000206656]|not provided [RCV000708617] Chr16:23607943 [GRCh38]
Chr16:23619264 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic
NM_024675.4(PALB2):c.3286_3289delinsGTTAATGA (p.Asn1096fs) indel Familial cancer of breast [RCV000206761]|Hereditary breast ovarian cancer syndrome [RCV000586640]|Hereditary cancer-predisposing syndrome [RCV000217334]|not provided [RCV000507665] Chr16:23607925..23607928 [GRCh38]
Chr16:23619246..23619249 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic
NM_024675.4(PALB2):c.761C>A (p.Ser254Ter) single nucleotide variant Familial cancer of breast [RCV000206812]|Hereditary cancer-predisposing syndrome [RCV002390551] Chr16:23635785 [GRCh38]
Chr16:23647106 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.226A>G (p.Ile76Val) single nucleotide variant Carcinoma of colon [RCV001030134]|Familial cancer of breast [RCV000203860]|Fanconi anemia complementation group N [RCV005016565]|Hereditary cancer-predisposing syndrome [RCV000223229]|not provided [RCV000590079]|not specified [RCV001526861] Chr16:23636320 [GRCh38]
Chr16:23647641 [GRCh37]
Chr16:16p12.2		 likely benign|uncertain significance
NM_024675.4(PALB2):c.2561A>G (p.Asn854Ser) single nucleotide variant Familial cancer of breast [RCV000203889]|Hereditary cancer-predisposing syndrome [RCV000573572]|not provided [RCV000679765] Chr16:23629229 [GRCh38]
Chr16:23640550 [GRCh37]
Chr16:16p12.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.1647C>A (p.His549Gln) single nucleotide variant Breast and/or ovarian cancer [RCV001798683]|Familial cancer of breast [RCV000203956]|Fanconi anemia complementation group N [RCV005396646]|Hereditary cancer-predisposing syndrome [RCV000219639]|not provided [RCV000766620]|not specified [RCV000479905] Chr16:23634899 [GRCh38]
Chr16:23646220 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.109C>T (p.Arg37Cys) single nucleotide variant Familial cancer of breast [RCV000204029]|Hereditary cancer-predisposing syndrome [RCV000561601]|PALB2-related disorder [RCV004530229]|not provided [RCV000485666]|not specified [RCV002247634] Chr16:23637952 [GRCh38]
Chr16:23649273 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.1805A>T (p.Gln602Leu) single nucleotide variant Familial cancer of breast [RCV000204088] Chr16:23630349 [GRCh38]
Chr16:23641670 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.3350+1G>A single nucleotide variant Familial cancer of breast [RCV000204129] Chr16:23607863 [GRCh38]
Chr16:23619184 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic
NM_024675.4(PALB2):c.1042C>T (p.Gln348Ter) single nucleotide variant Familial cancer of breast [RCV000409735]|Hereditary breast ovarian cancer syndrome [RCV000416712]|Hereditary cancer-predisposing syndrome [RCV000568484]|Malignant tumor of breast [RCV001358472]|not provided [RCV000255651] Chr16:23635504 [GRCh38]
Chr16:23646825 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic
NM_024675.4(PALB2):c.2505C>A (p.Ser835=) single nucleotide variant Familial cancer of breast [RCV000542987]|Hereditary cancer-predisposing syndrome [RCV003302806] Chr16:23629649 [GRCh38]
Chr16:23640970 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.1650del (p.Lys550fs) deletion Familial cancer of breast [RCV003500524]|not provided [RCV000255534] Chr16:23634896 [GRCh38]
Chr16:23646217 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic
NM_024675.4(PALB2):c.487_488del (p.Val163fs) microsatellite Breast-ovarian cancer, familial, susceptibility to, 5 [RCV003389468]|Familial cancer of breast [RCV000799725]|Hereditary cancer-predisposing syndrome [RCV000454359]|Pancreatic cancer, susceptibility to, 3 [RCV002272200]|not provided [RCV000255562] Chr16:23636058..23636059 [GRCh38]
Chr16:23647379..23647380 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic
NM_024675.4(PALB2):c.3295_3301del (p.Thr1099fs) deletion not provided [RCV000255569] Chr16:23607913..23607919 [GRCh38]
Chr16:23619234..23619240 [GRCh37]
Chr16:16p12.2		 likely pathogenic
NM_024675.4(PALB2):c.3311G>A (p.Gly1104Asp) single nucleotide variant Familial cancer of breast [RCV000557463]|Hereditary cancer-predisposing syndrome [RCV000561557] Chr16:23607903 [GRCh38]
Chr16:23619224 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2719del (p.Glu907fs) deletion Familial cancer of breast [RCV000811566]|Hereditary cancer-predisposing syndrome [RCV000561628]|not provided [RCV004596270] Chr16:23626265 [GRCh38]
Chr16:23637586 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic
NM_024675.4(PALB2):c.1440del (p.Lys480fs) deletion Familial cancer of breast [RCV000689768]|Hereditary cancer-predisposing syndrome [RCV000561471] Chr16:23635106 [GRCh38]
Chr16:23646427 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.2177C>T (p.Pro726Leu) single nucleotide variant Familial cancer of breast [RCV000544352]|Hereditary cancer-predisposing syndrome [RCV002431575] Chr16:23629977 [GRCh38]
Chr16:23641298 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.210A>G (p.Ser70=) single nucleotide variant Familial cancer of breast [RCV000690592]|Hereditary cancer-predisposing syndrome [RCV000561518] Chr16:23637851 [GRCh38]
Chr16:23649172 [GRCh37]
Chr16:16p12.2		 likely benign|uncertain significance
NM_024675.4(PALB2):c.1471G>A (p.Ala491Thr) single nucleotide variant Familial cancer of breast [RCV000555891]|Hereditary cancer-predisposing syndrome [RCV000563308]|not provided [RCV001545090] Chr16:23635075 [GRCh38]
Chr16:23646396 [GRCh37]
Chr16:16p12.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.2784G>A (p.Val928=) single nucleotide variant Familial cancer of breast [RCV002490997]|Familial cancer of breast [RCV002528334]|Hereditary cancer-predisposing syndrome [RCV001016600]|not provided [RCV000547116] Chr16:23624059 [GRCh38]
Chr16:23635380 [GRCh37]
Chr16:16p12.2		 benign|likely benign|uncertain significance
NM_024675.4(PALB2):c.2515-3C>T single nucleotide variant Familial cancer of breast [RCV000543762]|Hereditary cancer-predisposing syndrome [RCV001015746]|not provided [RCV001775854] Chr16:23629278 [GRCh38]
Chr16:23640599 [GRCh37]
Chr16:16p12.2		 likely benign|uncertain significance
NM_024675.4(PALB2):c.899C>G (p.Thr300Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000562506] Chr16:23635647 [GRCh38]
Chr16:23646968 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.823A>C (p.Thr275Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000562515] Chr16:23635723 [GRCh38]
Chr16:23647044 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.371C>A (p.Thr124Asn) single nucleotide variant Familial cancer of breast [RCV000688473]|Hereditary cancer-predisposing syndrome [RCV000573383]|not provided [RCV000522653] Chr16:23636175 [GRCh38]
Chr16:23647496 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1498T>C (p.Ser500Pro) single nucleotide variant Familial cancer of breast [RCV000207336]|Familial cancer of breast [RCV002478746]|Hereditary cancer-predisposing syndrome [RCV001524375]|not provided [RCV003477707] Chr16:23635048 [GRCh38]
Chr16:23646369 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1991T>C (p.Met664Thr) single nucleotide variant Familial cancer of breast [RCV000547344]|Hereditary cancer-predisposing syndrome [RCV001013948] Chr16:23630163 [GRCh38]
Chr16:23641484 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.3399T>C (p.Thr1133=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000563145] Chr16:23603621 [GRCh38]
Chr16:23614942 [GRCh37]
Chr16:16p12.2		 likely benign
GRCh37/hg19 16p12.3-11.2(chr16:19590412-29814175)x3 copy number gain Breast ductal adenocarcinoma [RCV000207226] Chr16:19590412..29814175 [GRCh37]
Chr16:16p12.3-11.2		 uncertain significance
NM_024675.4(PALB2):c.2542G>C (p.Asp848His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000579592] Chr16:23629248 [GRCh38]
Chr16:23640569 [GRCh37]
Chr16:16p12.2		 uncertain significance
GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3 copy number gain Breast ductal adenocarcinoma [RCV000207053] Chr16:1279324..31926800 [GRCh37]
Chr16:16p13.3-11.2		 uncertain significance
NM_024675.4(PALB2):c.2500C>T (p.His834Tyr) single nucleotide variant Familial cancer of breast [RCV001853887]|Hereditary cancer-predisposing syndrome [RCV000579392] Chr16:23629654 [GRCh38]
Chr16:23640975 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.1919C>G (p.Ser640Ter) single nucleotide variant Familial cancer of breast [RCV003453539]|Hereditary cancer-predisposing syndrome [RCV002406678]|not provided [RCV000756460] Chr16:23630235 [GRCh38]
Chr16:23641556 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.964_975dup (p.Glu322_Ile325dup) duplication Familial cancer of breast [RCV000411049]|Hereditary cancer-predisposing syndrome [RCV000219474] Chr16:23635570..23635571 [GRCh38]
Chr16:23646891..23646892 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1035A>C (p.Leu345Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000219505] Chr16:23635511 [GRCh38]
Chr16:23646832 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.34GAG[1] (p.Glu13del) microsatellite Familial cancer of breast [RCV000817877]|Hereditary cancer-predisposing syndrome [RCV000219523]|Infiltrating duct carcinoma of breast [RCV000677894]|not provided [RCV000985894]|not specified [RCV001175516] Chr16:23641119..23641121 [GRCh38]
Chr16:23652440..23652442 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.48+2T>G single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000221819] Chr16:23641108 [GRCh38]
Chr16:23652429 [GRCh37]
Chr16:16p12.2		 likely pathogenic
NM_024675.4(PALB2):c.2257C>A (p.Arg753=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000221875] Chr16:23629897 [GRCh38]
Chr16:23641218 [GRCh37]
Chr16:16p12.2		 likely benign
NM_024675.4(PALB2):c.2971G>T (p.Val991Phe) single nucleotide variant Carcinoma of colon [RCV001030360]|Familial cancer of breast [RCV000459925]|Hereditary cancer-predisposing syndrome [RCV000221881]|not provided [RCV000481851]|not specified [RCV001527008] Chr16:23622994 [GRCh38]
Chr16:23634315 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2917A>G (p.Thr973Ala) single nucleotide variant Familial cancer of breast [RCV002518234]|Hereditary cancer-predisposing syndrome [RCV000221884] Chr16:23623048 [GRCh38]
Chr16:23634369 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2481A>T (p.Thr827=) single nucleotide variant Familial cancer of breast [RCV000554218]|Hereditary cancer-predisposing syndrome [RCV000221910]|not specified [RCV000427990] Chr16:23629673 [GRCh38]
Chr16:23640994 [GRCh37]
Chr16:16p12.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_024675.4(PALB2):c.115C>T (p.Gln39Ter) single nucleotide variant Familial cancer of breast [RCV000551161]|Hereditary cancer-predisposing syndrome [RCV000223492] Chr16:23637946 [GRCh38]
Chr16:23649267 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.2108T>G (p.Leu703Ter) single nucleotide variant Familial cancer of breast [RCV001221815]|Hereditary cancer-predisposing syndrome [RCV000223583] Chr16:23630046 [GRCh38]
Chr16:23641367 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.2787T>C (p.Tyr929=) single nucleotide variant Familial cancer of breast [RCV001483979]|Hereditary cancer-predisposing syndrome [RCV000215323] Chr16:23624056 [GRCh38]
Chr16:23635377 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.1960A>G (p.Ile654Val) single nucleotide variant Breast-ovarian cancer, familial, susceptibility to, 5 [RCV005361351]|Familial cancer of breast [RCV000468846]|Hereditary cancer-predisposing syndrome [RCV000215342]|not provided [RCV001030272]|not specified [RCV004689684] Chr16:23630194 [GRCh38]
Chr16:23641515 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.170G>T (p.Cys57Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000215387] Chr16:23637891 [GRCh38]
Chr16:23649212 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.500_513del (p.Asp167fs) deletion Familial cancer of breast [RCV001383290]|Hereditary cancer-predisposing syndrome [RCV000217069] Chr16:23636033..23636046 [GRCh38]
Chr16:23647354..23647367 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic
NM_024675.4(PALB2):c.2470del (p.Cys824fs) deletion Familial cancer of breast [RCV000686532]|Gastric cancer [RCV003165554]|Hereditary cancer-predisposing syndrome [RCV000217072]|not provided [RCV001800544] Chr16:23629684 [GRCh38]
Chr16:23641005 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic
NM_024675.4(PALB2):c.3350G>A (p.Arg1117Lys) single nucleotide variant Breast-ovarian cancer, familial, susceptibility to, 5 [RCV003315422]|Familial cancer of breast [RCV000533846]|Hereditary breast ovarian cancer syndrome [RCV002277578]|Hereditary cancer-predisposing syndrome [RCV000217139]|not provided [RCV004998471]|not specified [RCV002271470] Chr16:23607864 [GRCh38]
Chr16:23619185 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.2488del (p.Glu830fs) deletion Breast and/or ovarian cancer [RCV003150120]|Familial cancer of breast [RCV000635786]|Fanconi anemia complementation group N [RCV001782706]|Hereditary breast ovarian cancer syndrome [RCV004017527]|Hereditary cancer-predisposing syndrome [RCV000217161]|not provided [RCV000478191] Chr16:23629666 [GRCh38]
Chr16:23640987 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.3027del (p.Glu1010fs) deletion Familial cancer of breast [RCV000689332]|Hereditary cancer-predisposing syndrome [RCV000217162] Chr16:23621448 [GRCh38]
Chr16:23632769 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.3377A>C (p.His1126Pro) single nucleotide variant Familial cancer of breast [RCV000469669]|Hereditary cancer-predisposing syndrome [RCV000217197] Chr16:23603643 [GRCh38]
Chr16:23614964 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.3306C>T (p.Ser1102=) single nucleotide variant Breast-ovarian cancer, familial, susceptibility to, 5 [RCV003316205]|Familial cancer of breast [RCV000465602]|Hereditary cancer-predisposing syndrome [RCV000219653]|not provided [RCV003417784]|not specified [RCV001030407] Chr16:23607908 [GRCh38]
Chr16:23619229 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.1573G>T (p.Asp525Tyr) single nucleotide variant Familial cancer of breast [RCV001857775]|Hereditary cancer-predisposing syndrome [RCV000219759] Chr16:23634973 [GRCh38]
Chr16:23646294 [GRCh37]
Chr16:16p12.2		 likely benign|uncertain significance
NM_024675.4(PALB2):c.3471A>T (p.Gln1157His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000219777] Chr16:23603549 [GRCh38]
Chr16:23614870 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2142_2143insTAA (p.Asp715Ter) insertion Hereditary cancer-predisposing syndrome [RCV000222029] Chr16:23630011..23630012 [GRCh38]
Chr16:23641332..23641333 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.229T>C (p.Cys77Arg) single nucleotide variant Breast-ovarian cancer, familial, susceptibility to, 5 [RCV005361343]|Familial cancer of breast [RCV000472473]|Hereditary cancer-predisposing syndrome [RCV000222033]|not provided [RCV000485885]|not specified [RCV001818541] Chr16:23636317 [GRCh38]
Chr16:23647638 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.3(PALB2):c.2966_2967insCAACAAGT (p.Glu990Asnfs) insertion Familial cancer of breast [RCV000211065] Chr16:23622998..23622999 [GRCh38]
Chr16:23634319..23634320 [GRCh37]
Chr16:16p12.2		 likely pathogenic
NM_024675.4(PALB2):c.577dup (p.Thr193fs) duplication Familial cancer of breast [RCV000211071] Chr16:23635968..23635969 [GRCh38]
Chr16:23647289..23647290 [GRCh37]
Chr16:16p12.2		 likely pathogenic
NM_024675.4(PALB2):c.693dup (p.Gly232fs) duplication Familial cancer of breast [RCV000211082]|Hereditary cancer-predisposing syndrome [RCV004020583] Chr16:23635852..23635853 [GRCh38]
Chr16:23647173..23647174 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic
NM_024675.4(PALB2):c.2586G>C (p.Lys862Asn) single nucleotide variant Breast and/or ovarian cancer [RCV003150118]|Familial cancer of breast [RCV000635942]|Hereditary cancer-predisposing syndrome [RCV000217255] Chr16:23629204 [GRCh38]
Chr16:23640525 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.3396_3405del (p.Thr1133fs) deletion Familial cancer of breast [RCV000812433]|Hereditary cancer-predisposing syndrome [RCV000217312]|not provided [RCV003477763] Chr16:23603615..23603624 [GRCh38]
Chr16:23614936..23614945 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic
NM_024675.4(PALB2):c.1638C>T (p.Val546=) single nucleotide variant Familial cancer of breast [RCV001504109]|Hereditary cancer-predisposing syndrome [RCV000217329]|not specified [RCV000607543] Chr16:23634908 [GRCh38]
Chr16:23646229 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.1378C>T (p.Gln460Ter) single nucleotide variant Familial cancer of breast [RCV001853499]|Hereditary cancer-predisposing syndrome [RCV000222117] Chr16:23635168 [GRCh38]
Chr16:23646489 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.1830A>G (p.Thr610=) single nucleotide variant Familial cancer of breast [RCV001457806]|Hereditary cancer-predisposing syndrome [RCV000222133]|not specified [RCV001192767] Chr16:23630324 [GRCh38]
Chr16:23641645 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.2630G>A (p.Trp877Ter) single nucleotide variant Familial cancer of breast [RCV001064019]|Hereditary cancer-predisposing syndrome [RCV000213186] Chr16:23626354 [GRCh38]
Chr16:23637675 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.2981T>C (p.Phe994Ser) single nucleotide variant Familial cancer of breast [RCV000556582]|Hereditary cancer-predisposing syndrome [RCV000213191] Chr16:23622984 [GRCh38]
Chr16:23634305 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.35A>C (p.Glu12Ala) single nucleotide variant Familial cancer of breast [RCV001204816]|Hereditary cancer-predisposing syndrome [RCV000213226] Chr16:23641123 [GRCh38]
Chr16:23652444 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2274C>T (p.Pro758=) single nucleotide variant Familial cancer of breast [RCV001429014]|Hereditary cancer-predisposing syndrome [RCV000213308]|not provided [RCV001705226] Chr16:23629880 [GRCh38]
Chr16:23641201 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.2835G>A (p.Arg945=) single nucleotide variant Familial cancer of breast [RCV001320081]|Hereditary cancer-predisposing syndrome [RCV000217381]|not provided [RCV000483812] Chr16:23623130 [GRCh38]
Chr16:23634451 [GRCh37]
Chr16:16p12.2		 likely benign|uncertain significance
NM_024675.4(PALB2):c.2849C>T (p.Ser950Phe) single nucleotide variant Familial cancer of breast [RCV000691866]|Fanconi anemia complementation group N [RCV001118196]|Hereditary cancer-predisposing syndrome [RCV000217386]|not specified [RCV001818529] Chr16:23623116 [GRCh38]
Chr16:23634437 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1216del (p.Ala406fs) deletion Familial cancer of breast [RCV001389702]|Hereditary cancer-predisposing syndrome [RCV000219937]|PALB2-related cancer predisposition [RCV005361316] Chr16:23635330 [GRCh38]
Chr16:23646651 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.3219C>G (p.Val1073=) single nucleotide variant Familial cancer of breast [RCV000932681]|Hereditary cancer-predisposing syndrome [RCV000219952]|not specified [RCV000422048] Chr16:23607995 [GRCh38]
Chr16:23619316 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.308G>A (p.Gly103Glu) single nucleotide variant Familial cancer of breast [RCV001854715]|Hereditary cancer-predisposing syndrome [RCV000222248] Chr16:23636238 [GRCh38]
Chr16:23647559 [GRCh37]
Chr16:16p12.2		 likely benign|uncertain significance
NM_024675.4(PALB2):c.3114G>A (p.Trp1038Ter) single nucleotide variant Familial cancer of breast [RCV001070907]|Hereditary cancer-predisposing syndrome [RCV000222262]|not provided [RCV001030388] Chr16:23614091 [GRCh38]
Chr16:23625412 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic
NM_024675.4(PALB2):c.3078G>A (p.Leu1026=) single nucleotide variant Familial cancer of breast [RCV001450512]|Hereditary cancer-predisposing syndrome [RCV000562358] Chr16:23621397 [GRCh38]
Chr16:23632718 [GRCh37]
Chr16:16p12.2		 likely benign
NM_024675.4(PALB2):c.2978C>T (p.Thr993Met) single nucleotide variant Familial cancer of breast [RCV000544190]|Familial cancer of breast [RCV002478799]|Fanconi anemia complementation group N [RCV005396720]|Hereditary cancer-predisposing syndrome [RCV000213330]|not provided [RCV000236936]|not specified [RCV002267960] Chr16:23622987 [GRCh38]
Chr16:23634308 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.2512C>G (p.Gln838Glu) single nucleotide variant Familial cancer of breast [RCV000635607]|Familial cancer of breast [RCV002478788]|Hereditary cancer-predisposing syndrome [RCV000213341]|not provided [RCV003223625] Chr16:23629642 [GRCh38]
Chr16:23640963 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.1085T>G (p.Leu362Arg) single nucleotide variant Familial cancer of breast [RCV000810294]|Hereditary cancer-predisposing syndrome [RCV000213354] Chr16:23635461 [GRCh38]
Chr16:23646782 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1925T>C (p.Met642Thr) single nucleotide variant Familial cancer of breast [RCV003607268]|Hereditary cancer-predisposing syndrome [RCV000213359] Chr16:23630229 [GRCh38]
Chr16:23641550 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.3096G>C (p.Met1032Ile) single nucleotide variant Familial cancer of breast [RCV001216363]|Hereditary cancer-predisposing syndrome [RCV000217483] Chr16:23621379 [GRCh38]
Chr16:23632700 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.1425_1426insT (p.Arg476Ter) insertion Familial cancer of breast [RCV003454635]|Hereditary cancer-predisposing syndrome [RCV000217519]|not provided [RCV001284669] Chr16:23635120..23635121 [GRCh38]
Chr16:23646441..23646442 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.2199T>C (p.Thr733=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000217553] Chr16:23629955 [GRCh38]
Chr16:23641276 [GRCh37]
Chr16:16p12.2		 likely benign
NM_024675.4(PALB2):c.831C>T (p.Asp277=) single nucleotide variant Familial cancer of breast [RCV000226682]|Hereditary cancer-predisposing syndrome [RCV000217566]|PALB2-related disorder [RCV004532779]|not provided [RCV000615411]|not specified [RCV001824692] Chr16:23635715 [GRCh38]
Chr16:23647036 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.2167A>T (p.Met723Leu) single nucleotide variant Familial cancer of breast [RCV000467128]|Fanconi anemia complementation group N [RCV005016605]|Hereditary cancer-predisposing syndrome [RCV000217611]|not provided [RCV003153509] Chr16:23629987 [GRCh38]
Chr16:23641308 [GRCh37]
Chr16:16p12.2		 likely benign|uncertain significance
NM_024675.4(PALB2):c.1415A>G (p.Gln472Arg) single nucleotide variant Familial cancer of breast [RCV001037656]|Fanconi anemia complementation group N [RCV001116858]|Hereditary cancer-predisposing syndrome [RCV000219983] Chr16:23635131 [GRCh38]
Chr16:23646452 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.707dup (p.Leu237fs) duplication Familial cancer of breast [RCV000685002]|Hereditary cancer-predisposing syndrome [RCV000219994]|not provided [RCV000344893] Chr16:23635838..23635839 [GRCh38]
Chr16:23647159..23647160 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic
NM_024675.4(PALB2):c.3089C>T (p.Thr1030Ile) single nucleotide variant Familial cancer of breast [RCV001222271]|Hereditary breast ovarian cancer syndrome [RCV000675186]|Hereditary cancer-predisposing syndrome [RCV000220028]|not provided [RCV000236606] Chr16:23621386 [GRCh38]
Chr16:23632707 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.194C>G (p.Pro65Arg) single nucleotide variant Familial cancer of breast [RCV000558261]|Hereditary cancer-predisposing syndrome [RCV000213510] Chr16:23637867 [GRCh38]
Chr16:23649188 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2690T>G (p.Leu897Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000213587] Chr16:23626294 [GRCh38]
Chr16:23637615 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.38A>G (p.Glu13Gly) single nucleotide variant Familial cancer of breast [RCV005090076]|Hereditary cancer-predisposing syndrome [RCV000213589] Chr16:23641120 [GRCh38]
Chr16:23652441 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.658del (p.Ser220fs) deletion Familial cancer of breast [RCV000810472]|Hereditary cancer-predisposing syndrome [RCV000217719]|not provided [RCV000657496] Chr16:23635888 [GRCh38]
Chr16:23647209 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.1020T>C (p.Asn340=) single nucleotide variant Familial cancer of breast [RCV000475868]|Hereditary cancer-predisposing syndrome [RCV000220055]|PALB2-related disorder [RCV004541354] Chr16:23635526 [GRCh38]
Chr16:23646847 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.1660G>A (p.Glu554Lys) single nucleotide variant Familial cancer of breast [RCV001053537]|Hereditary cancer-predisposing syndrome [RCV000565852]|not provided [RCV001584375]|not specified [RCV005231088] Chr16:23634886 [GRCh38]
Chr16:23646207 [GRCh37]
Chr16:16p12.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.2288_2291del (p.His762_Leu763insTer) deletion Breast-ovarian cancer, familial, susceptibility to, 5 [RCV004558531]|Familial cancer of breast [RCV000467619]|Hereditary cancer-predisposing syndrome [RCV000213608]|Pancreatic cancer, susceptibility to, 3 [RCV001357568]|not provided [RCV000235354] Chr16:23629863..23629866 [GRCh38]
Chr16:23641184..23641187 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_024675.4(PALB2):c.2628T>G (p.Phe876Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000213757] Chr16:23626356 [GRCh38]
Chr16:23637677 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.826C>T (p.His276Tyr) single nucleotide variant Familial cancer of breast [RCV000544750]|Hereditary cancer-predisposing syndrome [RCV000215431] Chr16:23635720 [GRCh38]
Chr16:23647041 [GRCh37]
Chr16:16p12.2		 likely benign|uncertain significance
NM_024675.4(PALB2):c.2096C>G (p.Ser699Cys) single nucleotide variant Familial cancer of breast [RCV001053807]|Familial cancer of breast [RCV002485422]|Hereditary cancer-predisposing syndrome [RCV000215445] Chr16:23630058 [GRCh38]
Chr16:23641379 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.27C>G (p.Leu9=) single nucleotide variant Familial cancer of breast [RCV001409240]|Hereditary cancer-predisposing syndrome [RCV000215451]|not specified [RCV000420697] Chr16:23641131 [GRCh38]
Chr16:23652452 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.3412G>A (p.Ala1138Thr) single nucleotide variant Familial cancer of breast [RCV000686283]|Fanconi anemia complementation group N [RCV005016592]|Hereditary cancer-predisposing syndrome [RCV000215508]|not provided [RCV000759188] Chr16:23603608 [GRCh38]
Chr16:23614929 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.3475T>C (p.Trp1159Arg) single nucleotide variant Familial cancer of breast [RCV000822894]|Hereditary cancer-predisposing syndrome [RCV000217867]|not provided [RCV000483996]|not specified [RCV002267968] Chr16:23603545 [GRCh38]
Chr16:23614866 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1732A>G (p.Ser578Gly) single nucleotide variant Breast-ovarian cancer, familial, susceptibility to, 5 [RCV005361246]|Familial cancer of breast [RCV000464403]|Hereditary cancer-predisposing syndrome [RCV000217898]|Pancreatic cancer, susceptibility to, 3 [RCV001030256]|not provided [RCV000985887] Chr16:23630422 [GRCh38]
Chr16:23641743 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.1767G>A (p.Thr589=) single nucleotide variant Breast-ovarian cancer, familial, susceptibility to, 5 [RCV005365148]|Familial cancer of breast [RCV000457514]|Fanconi anemia complementation group N [RCV001121719]|Hereditary cancer-predisposing syndrome [RCV000217926]|PALB2-related disorder [RCV004532777]|not provided [RCV002478785]|not specified [RCV000436798] Chr16:23630387 [GRCh38]
Chr16:23641708 [GRCh37]
Chr16:16p12.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.844A>G (p.Arg282Gly) single nucleotide variant Breast and/or ovarian cancer [RCV003491976]|Familial cancer of breast [RCV000462094]|Hereditary cancer-predisposing syndrome [RCV000220267]|not provided [RCV000759905] Chr16:23635702 [GRCh38]
Chr16:23647023 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.955T>C (p.Ser319Pro) single nucleotide variant Familial cancer of breast [RCV000542010] Chr16:23635591 [GRCh38]
Chr16:23646912 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2506G>C (p.Val836Leu) single nucleotide variant B lymphoblastic leukemia lymphoma with t(12;21)(p13;q22); TEL-AML1 (ETV6-RUNX1) [RCV000761094]|Familial cancer of breast [RCV000687946]|Familial cancer of breast [RCV002494591]|Hereditary cancer-predisposing syndrome [RCV000215537] Chr16:23629648 [GRCh38]
Chr16:23640969 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.3392T>C (p.Ile1131Thr) single nucleotide variant Familial cancer of breast [RCV000229527]|Fanconi anemia complementation group N [RCV005396705]|Hereditary cancer-predisposing syndrome [RCV000215576]|not provided [RCV000590765] Chr16:23603628 [GRCh38]
Chr16:23614949 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.140C>A (p.Ser47Tyr) single nucleotide variant Familial cancer of breast [RCV003765422]|Hereditary cancer-predisposing syndrome [RCV000215607] Chr16:23637921 [GRCh38]
Chr16:23649242 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.583A>G (p.Ile195Val) single nucleotide variant Breast-ovarian cancer, familial, susceptibility to, 5 [RCV005365161]|Familial cancer of breast [RCV001234307]|Fanconi anemia complementation group N [RCV005016591]|Hereditary cancer-predisposing syndrome [RCV000215618]|not provided [RCV001030160] Chr16:23635963 [GRCh38]
Chr16:23647284 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.3095T>G (p.Met1032Arg) single nucleotide variant Familial cancer of breast [RCV000696228]|Hereditary cancer-predisposing syndrome [RCV000215619]|Malignant tumor of breast [RCV001357160] Chr16:23621380 [GRCh38]
Chr16:23632701 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.3358G>T (p.Glu1120Ter) single nucleotide variant Familial cancer of breast [RCV003454620]|Hereditary cancer-predisposing syndrome [RCV000215626] Chr16:23603662 [GRCh38]
Chr16:23614983 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.773G>A (p.Ser258Asn) single nucleotide variant Familial cancer of breast [RCV000635854]|Hereditary cancer-predisposing syndrome [RCV000215658]|not provided [RCV002485415] Chr16:23635773 [GRCh38]
Chr16:23647094 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.2032C>T (p.Leu678=) single nucleotide variant Familial cancer of breast [RCV001086211]|Familial cancer of breast [RCV002485421]|Hereditary cancer-predisposing syndrome [RCV000215668]|not provided [RCV000842681] Chr16:23630122 [GRCh38]
Chr16:23641443 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.15C>T (p.Pro5=) single nucleotide variant Familial cancer of breast [RCV000876409]|Hereditary cancer-predisposing syndrome [RCV000217958]|not provided [RCV001610533] Chr16:23641143 [GRCh38]
Chr16:23652464 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.2674G>T (p.Glu892Ter) single nucleotide variant Familial cancer of breast [RCV001045962]|Hereditary cancer-predisposing syndrome [RCV000217992]|Inherited breast cancer and ovarian cancer [RCV005237756] Chr16:23626310 [GRCh38]
Chr16:23637631 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.1072C>T (p.Pro358Ser) single nucleotide variant Familial cancer of breast [RCV000466160]|Familial cancer of breast [RCV002494599]|Hereditary cancer-predisposing syndrome [RCV000220349]|not provided [RCV000235363] Chr16:23635474 [GRCh38]
Chr16:23646795 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.2635del (p.Arg879fs) deletion Hereditary cancer-predisposing syndrome [RCV000215674] Chr16:23626349 [GRCh38]
Chr16:23637670 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.1392G>A (p.Arg464=) single nucleotide variant Familial cancer of breast [RCV001467864]|Hereditary cancer-predisposing syndrome [RCV000215687] Chr16:23635154 [GRCh38]
Chr16:23646475 [GRCh37]
Chr16:16p12.2		 likely benign
NM_024675.4(PALB2):c.1456A>G (p.Lys486Glu) single nucleotide variant Familial cancer of breast [RCV000811638]|Hereditary cancer-predisposing syndrome [RCV000215703]|not provided [RCV001570464] Chr16:23635090 [GRCh38]
Chr16:23646411 [GRCh37]
Chr16:16p12.2		 likely benign|uncertain significance
NM_024675.4(PALB2):c.693A>T (p.Lys231Asn) single nucleotide variant Familial cancer of breast [RCV000474743]|Hereditary cancer-predisposing syndrome [RCV000215723]|not provided [RCV003226913] Chr16:23635853 [GRCh38]
Chr16:23647174 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.3544G>C (p.Val1182Leu) single nucleotide variant Familial cancer of breast [RCV000802184]|Hereditary cancer-predisposing syndrome [RCV000215738] Chr16:23603476 [GRCh38]
Chr16:23614797 [GRCh37]
Chr16:16p12.2		 likely benign|uncertain significance
NM_024675.4(PALB2):c.2448C>G (p.Phe816Leu) single nucleotide variant Familial cancer of breast [RCV000635843]|Hereditary cancer-predisposing syndrome [RCV000215749]|not specified [RCV002247661] Chr16:23629706 [GRCh38]
Chr16:23641027 [GRCh37]
Chr16:16p12.2		 benign|likely benign|uncertain significance
NM_024675.4(PALB2):c.2112T>A (p.Leu704=) single nucleotide variant Familial cancer of breast [RCV000466956]|Hereditary cancer-predisposing syndrome [RCV000215772]|not provided [RCV001574258] Chr16:23630042 [GRCh38]
Chr16:23641363 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.39G>A (p.Glu13=) single nucleotide variant Familial cancer of breast [RCV001444465]|Hereditary cancer-predisposing syndrome [RCV000218102] Chr16:23641119 [GRCh38]
Chr16:23652440 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.263T>C (p.Leu88Pro) single nucleotide variant Familial cancer of breast [RCV003765434]|Hereditary cancer-predisposing syndrome [RCV000222343] Chr16:23636283 [GRCh38]
Chr16:23647604 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1704A>C (p.Gln568His) single nucleotide variant Familial cancer of breast [RCV000458896]|Hereditary cancer-predisposing syndrome [RCV000222348] Chr16:23630450 [GRCh38]
Chr16:23641771 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.712A>G (p.Arg238Gly) single nucleotide variant Familial cancer of breast [RCV000692131]|Familial cancer of breast [RCV002485431]|Hereditary cancer-predisposing syndrome [RCV000214112]|not provided [RCV001566064] Chr16:23635834 [GRCh38]
Chr16:23647155 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1694G>A (p.Ser565Asn) single nucleotide variant Familial cancer of breast [RCV000536671]|Hereditary cancer-predisposing syndrome [RCV000214165]|not provided [RCV001753674]|not specified [RCV004526647] Chr16:23630460 [GRCh38]
Chr16:23641781 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.3261C>T (p.Ser1087=) single nucleotide variant Familial cancer of breast [RCV005420828]|Hereditary cancer-predisposing syndrome [RCV000214201] Chr16:23607953 [GRCh38]
Chr16:23619274 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.3113+5G>C single nucleotide variant Breast-ovarian cancer, familial, susceptibility to, 5 [RCV005416112]|Familial cancer of breast [RCV000231026]|Fanconi anemia complementation group N [RCV005016593]|Hereditary cancer-predisposing syndrome [RCV000214215]|not provided [RCV000255512] Chr16:23621357 [GRCh38]
Chr16:23632678 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.1944T>C (p.Leu648=) single nucleotide variant Familial cancer of breast [RCV000457327]|Hereditary cancer-predisposing syndrome [RCV000215925] Chr16:23630210 [GRCh38]
Chr16:23641531 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.3246_3247del (p.Ser1082fs) deletion Familial cancer of breast [RCV003454610]|Hereditary cancer-predisposing syndrome [RCV000215931] Chr16:23607967..23607968 [GRCh38]
Chr16:23619288..23619289 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.2413G>T (p.Val805Phe) single nucleotide variant Familial cancer of breast [RCV000697289]|Hereditary cancer-predisposing syndrome [RCV000218274]|not provided [RCV003328568] Chr16:23629741 [GRCh38]
Chr16:23641062 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1670T>C (p.Phe557Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000218299] Chr16:23634876 [GRCh38]
Chr16:23646197 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2609T>C (p.Val870Ala) single nucleotide variant Familial cancer of breast [RCV001219607]|Hereditary cancer-predisposing syndrome [RCV000218350]|not provided [RCV000480874] Chr16:23626375 [GRCh38]
Chr16:23637696 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2273C>G (p.Pro758Arg) single nucleotide variant Familial cancer of breast [RCV000526650]|Familial cancer of breast [RCV002485417]|Hereditary cancer-predisposing syndrome [RCV000218372]|not provided [RCV001762473] Chr16:23629881 [GRCh38]
Chr16:23641202 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1079A>G (p.Asp360Gly) single nucleotide variant Familial cancer of breast [RCV000459883]|Familial cancer of breast [RCV002500734]|Hereditary cancer-predisposing syndrome [RCV000220824]|not provided [RCV000679759] Chr16:23635467 [GRCh38]
Chr16:23646788 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.3488A>T (p.Lys1163Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000214233] Chr16:23603532 [GRCh38]
Chr16:23614853 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.3374_3395del (p.Asp1125fs) deletion Familial cancer of breast [RCV001384358]|Hereditary cancer-predisposing syndrome [RCV000214247]|not provided [RCV000657478] Chr16:23603625..23603646 [GRCh38]
Chr16:23614946..23614967 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic
NM_024675.4(PALB2):c.870G>A (p.Glu290=) single nucleotide variant Familial cancer of breast [RCV005425827]|Hereditary cancer-predisposing syndrome [RCV000214277] Chr16:23635676 [GRCh38]
Chr16:23646997 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.2147A>G (p.Asn716Ser) single nucleotide variant Familial cancer of breast [RCV000458608]|Hereditary cancer-predisposing syndrome [RCV000214302]|PALB2-related disorder [RCV004532798]|Papillary thyroid carcinoma [RCV000761167]|not provided [RCV001567281]|not specified [RCV002271471] Chr16:23630007 [GRCh38]
Chr16:23641328 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.2919A>G (p.Thr973=) single nucleotide variant Familial cancer of breast [RCV001470201]|Hereditary cancer-predisposing syndrome [RCV000216000] Chr16:23623046 [GRCh38]
Chr16:23634367 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.2667T>A (p.Thr889=) single nucleotide variant Familial cancer of breast [RCV005090094]|Fanconi anemia complementation group N [RCV001118199]|Hereditary cancer-predisposing syndrome [RCV000216116] Chr16:23626317 [GRCh38]
Chr16:23637638 [GRCh37]
Chr16:16p12.2		 benign|likely benign|uncertain significance
NM_024675.4(PALB2):c.3111T>C (p.Ile1037=) single nucleotide variant Familial cancer of breast [RCV001403855]|Hereditary cancer-predisposing syndrome [RCV000218393] Chr16:23621364 [GRCh38]
Chr16:23632685 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.1052C>A (p.Thr351Lys) single nucleotide variant Familial cancer of breast [RCV000531194]|Fanconi anemia complementation group N [RCV005016578]|Hereditary cancer-predisposing syndrome [RCV000218423] Chr16:23635494 [GRCh38]
Chr16:23646815 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.1952G>A (p.Gly651Glu) single nucleotide variant Familial cancer of breast [RCV000635716]|Hereditary cancer-predisposing syndrome [RCV000218442] Chr16:23630202 [GRCh38]
Chr16:23641523 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2076G>C (p.Gln692His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000218446] Chr16:23630078 [GRCh38]
Chr16:23641399 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2411_2412del (p.Ser804fs) microsatellite Familial cancer of breast [RCV000229872]|Fanconi anemia complementation group N [RCV001782707]|Hereditary breast ovarian cancer syndrome [RCV002307453]|Hereditary cancer-predisposing syndrome [RCV000218515]|PALB2-related disorder [RCV005250039]|not provided [RCV000236720] Chr16:23629742..23629743 [GRCh38]
Chr16:23641063..23641064 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_024675.4(PALB2):c.1515C>T (p.Ala505=) single nucleotide variant Familial cancer of breast [RCV001499661]|Hereditary cancer-predisposing syndrome [RCV000220867] Chr16:23635031 [GRCh38]
Chr16:23646352 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.3494C>T (p.Ser1165Leu) single nucleotide variant Chordoma [RCV002266936]|Familial cancer of breast [RCV000535759]|Familial cancer of breast [RCV002478804]|Fanconi anemia complementation group N [RCV001121621]|Hereditary cancer-predisposing syndrome [RCV000220953]|not provided [RCV000485944] Chr16:23603526 [GRCh38]
Chr16:23614847 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.2296_2297del (p.Val767fs) deletion Familial cancer of breast [RCV000468711]|Hereditary cancer-predisposing syndrome [RCV000220967]|not provided [RCV000236917] Chr16:23629857..23629858 [GRCh38]
Chr16:23641178..23641179 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic
NM_024675.4(PALB2):c.2053A>G (p.Lys685Glu) single nucleotide variant Familial cancer of breast [RCV000704180]|Hereditary cancer-predisposing syndrome [RCV000222569]|not specified [RCV003488479] Chr16:23630101 [GRCh38]
Chr16:23641422 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.3165C>A (p.Tyr1055Ter) single nucleotide variant Familial cancer of breast [RCV001857756]|Hereditary cancer-predisposing syndrome [RCV000222632]|not provided [RCV004998440] Chr16:23614040 [GRCh38]
Chr16:23625361 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.1982C>G (p.Pro661Arg) single nucleotide variant Familial cancer of breast [RCV000559033]|Familial cancer of breast [RCV002485425]|Familial pancreatic carcinoma [RCV005361321]|Hereditary cancer-predisposing syndrome [RCV000222668]|not provided [RCV005252824]|not specified [RCV001582753] Chr16:23630172 [GRCh38]
Chr16:23641493 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.3114-522T>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000209151] Chr16:23614613 [GRCh38]
Chr16:23625934 [GRCh37]
Chr16:16p12.2		 likely benign
NM_024675.4(PALB2):c.1702C>A (p.Gln568Lys) single nucleotide variant Familial cancer of breast [RCV000818865]|Familial cancer of breast [RCV002494593]|Hereditary cancer-predisposing syndrome [RCV000214422]|PALB2-related disorder [RCV004541351]|not specified [RCV004701288] Chr16:23630452 [GRCh38]
Chr16:23641773 [GRCh37]
Chr16:16p12.2		 pathogenic|uncertain significance
NM_024675.4(PALB2):c.2811A>C (p.Gly937=) single nucleotide variant Familial cancer of breast [RCV001478867]|Hereditary cancer-predisposing syndrome [RCV000214425] Chr16:23624032 [GRCh38]
Chr16:23635353 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.663A>G (p.Val221=) single nucleotide variant Familial cancer of breast [RCV005090106]|Hereditary cancer-predisposing syndrome [RCV000216157] Chr16:23635883 [GRCh38]
Chr16:23647204 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.2873A>C (p.Gln958Pro) single nucleotide variant Familial cancer of breast [RCV000635913]|Hereditary cancer-predisposing syndrome [RCV000216200] Chr16:23623092 [GRCh38]
Chr16:23634413 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.135G>A (p.Lys45=) single nucleotide variant Familial cancer of breast [RCV001500992]|Hereditary cancer-predisposing syndrome [RCV000216258]|not specified [RCV000445169] Chr16:23637926 [GRCh38]
Chr16:23649247 [GRCh37]
Chr16:16p12.2		 likely benign
NM_024675.4(PALB2):c.1139G>C (p.Ser380Thr) single nucleotide variant Familial cancer of breast [RCV005090109]|Hereditary cancer-predisposing syndrome [RCV000218548]|not provided [RCV000479465] Chr16:23635407 [GRCh38]
Chr16:23646728 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.3225T>A (p.Ser1075Arg) single nucleotide variant Familial cancer of breast [RCV000466966]|Familial cancer of breast [RCV002500726]|Fanconi anemia complementation group N [RCV005396711]|Hereditary cancer-predisposing syndrome [RCV000218610] Chr16:23607989 [GRCh38]
Chr16:23619310 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.1346A>T (p.Lys449Ile) single nucleotide variant Familial cancer of breast [RCV005090091]|Hereditary cancer-predisposing syndrome [RCV000218614] Chr16:23635200 [GRCh38]
Chr16:23646521 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1238C>A (p.Thr413Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000218626] Chr16:23635308 [GRCh38]
Chr16:23646629 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.48+4C>T single nucleotide variant Familial cancer of breast [RCV000635739]|Hereditary cancer-predisposing syndrome [RCV000218641] Chr16:23641106 [GRCh38]
Chr16:23652427 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1814C>T (p.Ser605Phe) single nucleotide variant Familial cancer of breast [RCV000794879]|Hereditary cancer-predisposing syndrome [RCV000218680]|not provided [RCV004767171] Chr16:23630340 [GRCh38]
Chr16:23641661 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1206del (p.Leu403fs) deletion Familial cancer of breast [RCV001030203]|Gastric cancer [RCV003165555]|Hereditary cancer-predisposing syndrome [RCV000218688] Chr16:23635340 [GRCh38]
Chr16:23646661 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.2325dup (p.Phe776fs) duplication Breast and/or ovarian cancer [RCV001798719]|Familial cancer of breast [RCV000468481]|Hereditary cancer-predisposing syndrome [RCV000218689]|PALB2-related cancer predisposition [RCV005365163]|PALB2-related disorder [RCV004532801]|not provided [RCV000236131] Chr16:23629828..23629829 [GRCh38]
Chr16:23641149..23641150 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.2504C>T (p.Ser835Phe) single nucleotide variant Familial cancer of breast [RCV000797707]|Hereditary cancer-predisposing syndrome [RCV000221085] Chr16:23629650 [GRCh38]
Chr16:23640971 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.578C>T (p.Thr193Ile) single nucleotide variant Familial cancer of breast [RCV002519710]|Hereditary cancer-predisposing syndrome [RCV000222826]|not provided [RCV001030159] Chr16:23635968 [GRCh38]
Chr16:23647289 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.48+398A>G single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000209187] Chr16:23640712 [GRCh38]
Chr16:23652033 [GRCh37]
Chr16:16p12.2		 likely benign
NM_024675.4(PALB2):c.1684+1290C>T single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000209482] Chr16:23633572 [GRCh38]
Chr16:23644893 [GRCh37]
Chr16:16p12.2		 likely benign
NM_024675.4(PALB2):c.2996+3A>G single nucleotide variant Familial cancer of breast [RCV003114389]|Hereditary cancer-predisposing syndrome [RCV000214540]|Malignant tumor of breast [RCV001356342]|not provided [RCV001797070] Chr16:23622966 [GRCh38]
Chr16:23634287 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1263G>A (p.Arg421=) single nucleotide variant Familial cancer of breast [RCV001493688]|Hereditary cancer-predisposing syndrome [RCV000214557] Chr16:23635283 [GRCh38]
Chr16:23646604 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.2156del (p.Pro719fs) deletion Familial cancer of breast [RCV000663079]|Hereditary cancer-predisposing syndrome [RCV000216333] Chr16:23629998 [GRCh38]
Chr16:23641319 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic
NM_024675.4(PALB2):c.908T>C (p.Leu303Pro) single nucleotide variant Familial cancer of breast [RCV000822728]|Hereditary cancer-predisposing syndrome [RCV000216402]|not provided [RCV001284671] Chr16:23635638 [GRCh38]
Chr16:23646959 [GRCh37]
Chr16:16p12.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.595C>T (p.Leu199Phe) single nucleotide variant Familial cancer of breast [RCV003765443]|Hereditary cancer-predisposing syndrome [RCV000216403] Chr16:23635951 [GRCh38]
Chr16:23647272 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.3027T>C (p.Pro1009=) single nucleotide variant Familial cancer of breast [RCV001397966]|Hereditary cancer-predisposing syndrome [RCV000216427]|not specified [RCV000616466] Chr16:23621448 [GRCh38]
Chr16:23632769 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.3201+3A>C single nucleotide variant Familial cancer of breast [RCV001853618]|Hereditary cancer-predisposing syndrome [RCV000216437] Chr16:23614001 [GRCh38]
Chr16:23625322 [GRCh37]
Chr16:16p12.2		 likely pathogenic|uncertain significance
NM_024675.4(PALB2):c.2482_2504delinsAAGGTACAAT (p.Cys828fs) indel Hereditary cancer-predisposing syndrome [RCV000216440] Chr16:23629650..23629672 [GRCh38]
Chr16:23640971..23640993 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.3210C>G (p.Leu1070=) single nucleotide variant Familial cancer of breast [RCV001493013]|Hereditary cancer-predisposing syndrome [RCV000218741]|not provided [RCV000228470] Chr16:23608004 [GRCh38]
Chr16:23619325 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.35del (p.Glu12fs) deletion Familial cancer of breast [RCV000803336]|Hereditary cancer-predisposing syndrome [RCV000218745] Chr16:23641123 [GRCh38]
Chr16:23652444 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.1804C>G (p.Gln602Glu) single nucleotide variant Familial cancer of breast [RCV000538187]|Hereditary cancer-predisposing syndrome [RCV000218759] Chr16:23630350 [GRCh38]
Chr16:23641671 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.1918T>G (p.Ser640Ala) single nucleotide variant Familial cancer of breast [RCV000635882]|Familial cancer of breast [RCV002478798]|Hereditary cancer-predisposing syndrome [RCV000221223]|not specified [RCV002509316] Chr16:23630236 [GRCh38]
Chr16:23641557 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2325A>C (p.Gln775His) single nucleotide variant Familial cancer of breast [RCV000231589]|Hereditary cancer-predisposing syndrome [RCV000221269]|not specified [RCV002267954] Chr16:23629829 [GRCh38]
Chr16:23641150 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.745_749del (p.Pro249fs) deletion Gastric cancer [RCV003165565]|Hereditary cancer-predisposing syndrome [RCV000222919] Chr16:23635797..23635801 [GRCh38]
Chr16:23647118..23647122 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.2515-39A>G single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000209505] Chr16:23629314 [GRCh38]
Chr16:23640635 [GRCh37]
Chr16:16p12.2		 likely benign
NM_024675.4(PALB2):c.3232T>A (p.Cys1078Ser) single nucleotide variant Carcinoma of colon [RCV001030400]|Familial cancer of breast [RCV000530258]|Hereditary cancer-predisposing syndrome [RCV000214649]|not provided [RCV001788088]|not specified [RCV003230458] Chr16:23607982 [GRCh38]
Chr16:23619303 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.2167A>G (p.Met723Val) single nucleotide variant Familial cancer of breast [RCV001350792]|Hereditary cancer-predisposing syndrome [RCV000214669] Chr16:23629987 [GRCh38]
Chr16:23641308 [GRCh37]
Chr16:16p12.2		 likely benign|uncertain significance
NM_024675.4(PALB2):c.3061G>A (p.Gly1021Arg) single nucleotide variant Breast and/or ovarian cancer [RCV001798715]|Familial cancer of breast [RCV000558947]|Hereditary cancer-predisposing syndrome [RCV000214675]|not provided [RCV003328567]|not specified [RCV002265691] Chr16:23621414 [GRCh38]
Chr16:23632735 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.71T>C (p.Leu24Ser) single nucleotide variant Familial cancer of breast [RCV000474579]|Hereditary cancer-predisposing syndrome [RCV000214682] Chr16:23638107 [GRCh38]
Chr16:23649428 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2280del (p.Ala761fs) deletion Hereditary cancer-predisposing syndrome [RCV000214754] Chr16:23629874 [GRCh38]
Chr16:23641195 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.330A>G (p.Gly110=) single nucleotide variant Familial cancer of breast [RCV000544506]|Hereditary cancer-predisposing syndrome [RCV000214791]|not specified [RCV003321555] Chr16:23636216 [GRCh38]
Chr16:23647537 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.466_467del (p.Ile156fs) deletion Familial cancer of breast [RCV001045091]|Hereditary cancer-predisposing syndrome [RCV000214798]|not provided [RCV001091642] Chr16:23636079..23636080 [GRCh38]
Chr16:23647400..23647401 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic
NM_024675.4(PALB2):c.1744T>C (p.Ser582Pro) single nucleotide variant Familial cancer of breast [RCV001316625]|Hereditary cancer-predisposing syndrome [RCV000214800] Chr16:23630410 [GRCh38]
Chr16:23641731 [GRCh37]
Chr16:16p12.2		 likely benign|uncertain significance
NM_024675.4(PALB2):c.512T>G (p.Leu171Trp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000214801] Chr16:23636034 [GRCh38]
Chr16:23647355 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2437A>G (p.Ile813Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000216460] Chr16:23629717 [GRCh38]
Chr16:23641038 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.1157C>G (p.Thr386Ser) single nucleotide variant Familial cancer of breast [RCV000635788]|Hereditary cancer-predisposing syndrome [RCV000216492]|not provided [RCV003477772] Chr16:23635389 [GRCh38]
Chr16:23646710 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.3417T>G (p.Ile1139Met) single nucleotide variant Familial cancer of breast [RCV000635692]|Hereditary cancer-predisposing syndrome [RCV000216504]|not provided [RCV005055762] Chr16:23603603 [GRCh38]
Chr16:23614924 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1902A>G (p.Pro634=) single nucleotide variant Familial cancer of breast [RCV001439585]|Hereditary cancer-predisposing syndrome [RCV000216555] Chr16:23630252 [GRCh38]
Chr16:23641573 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.1588C>T (p.Leu530Phe) single nucleotide variant Familial cancer of breast [RCV000635734]|Hereditary cancer-predisposing syndrome [RCV000218879] Chr16:23634958 [GRCh38]
Chr16:23646279 [GRCh37]
Chr16:16p12.2		 likely benign|uncertain significance
NM_024675.4(PALB2):c.908T>A (p.Leu303His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000218945] Chr16:23635638 [GRCh38]
Chr16:23646959 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.347T>A (p.Leu116Ter) single nucleotide variant Familial cancer of breast [RCV000709748]|Hereditary cancer-predisposing syndrome [RCV000223009]|not provided [RCV003227721] Chr16:23636199 [GRCh38]
Chr16:23647520 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.2217T>C (p.Pro739=) single nucleotide variant Familial cancer of breast [RCV001459451]|Hereditary cancer-predisposing syndrome [RCV000223061]|not specified [RCV000430420] Chr16:23629937 [GRCh38]
Chr16:23641258 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.3204G>T (p.Gly1068=) single nucleotide variant Familial cancer of breast [RCV000878248]|Familial cancer of breast [RCV002500737]|Hereditary cancer-predisposing syndrome [RCV000223144] Chr16:23608010 [GRCh38]
Chr16:23619331 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.3350+1313G>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000209812] Chr16:23606551 [GRCh38]
Chr16:23617872 [GRCh37]
Chr16:16p12.2		 likely benign
NM_024675.4(PALB2):c.1163del (p.Pro388fs) deletion Familial cancer of breast [RCV005090043]|Hereditary cancer-predisposing syndrome [RCV000210113] Chr16:23635383 [GRCh38]
Chr16:23646704 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.3186del (p.Ala1063fs) deletion Familial cancer of breast [RCV002517428]|Hereditary cancer-predisposing syndrome [RCV000210123] Chr16:23614019 [GRCh38]
Chr16:23625340 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.2391del (p.Gln797fs) deletion Familial cancer of breast [RCV000114525]|Hereditary cancer-predisposing syndrome [RCV000210140] Chr16:23629763 [GRCh38]
Chr16:23641084 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_024675.4(PALB2):c.1919C>A (p.Ser640Ter) single nucleotide variant Familial cancer of breast [RCV000545701]|Fanconi anemia complementation group N [RCV005016586]|Hereditary cancer-predisposing syndrome [RCV000214899]|not provided [RCV000479396] Chr16:23630235 [GRCh38]
Chr16:23641556 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.619C>T (p.Pro207Ser) single nucleotide variant Familial cancer of breast [RCV001370562]|Hereditary cancer-predisposing syndrome [RCV000214926] Chr16:23635927 [GRCh38]
Chr16:23647248 [GRCh37]
Chr16:16p12.2		 likely benign|uncertain significance
NM_024675.4(PALB2):c.2904T>C (p.Ala968=) single nucleotide variant Familial cancer of breast [RCV002054968]|Hereditary cancer-predisposing syndrome [RCV000216640] Chr16:23623061 [GRCh38]
Chr16:23634382 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.1847A>G (p.Asp616Gly) single nucleotide variant Familial cancer of breast [RCV000700347]|Hereditary cancer-predisposing syndrome [RCV000216725]|PALB2-related disorder [RCV004545877]|not provided [RCV000235495] Chr16:23630307 [GRCh38]
Chr16:23641628 [GRCh37]
Chr16:16p12.2		 uncertain significance|not provided
NM_024675.4(PALB2):c.3453C>G (p.Leu1151=) single nucleotide variant Familial cancer of breast [RCV000635993]|Hereditary cancer-predisposing syndrome [RCV000219007] Chr16:23603567 [GRCh38]
Chr16:23614888 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.1653T>C (p.Tyr551=) single nucleotide variant Familial cancer of breast [RCV001494527]|Hereditary cancer-predisposing syndrome [RCV000219143] Chr16:23634893 [GRCh38]
Chr16:23646214 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.157GAA[1] (p.Glu54del) microsatellite Familial cancer of breast [RCV001300672]|Hereditary cancer-predisposing syndrome [RCV000221452] Chr16:23637899..23637901 [GRCh38]
Chr16:23649220..23649222 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.459G>A (p.Arg153=) single nucleotide variant Familial cancer of breast [RCV003607262]|Hereditary cancer-predisposing syndrome [RCV000221463]|not specified [RCV000603082] Chr16:23636087 [GRCh38]
Chr16:23647408 [GRCh37]
Chr16:16p12.2		 likely benign
NM_024675.4(PALB2):c.59A>T (p.Lys20Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000221475] Chr16:23638119 [GRCh38]
Chr16:23649440 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.947C>T (p.Pro316Leu) single nucleotide variant Familial cancer of breast [RCV000687299]|Hereditary cancer-predisposing syndrome [RCV000221523]|not provided [RCV005230110] Chr16:23635599 [GRCh38]
Chr16:23646920 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1918T>A (p.Ser640Thr) single nucleotide variant Fanconi anemia complementation group N [RCV003133189]|Hereditary cancer-predisposing syndrome [RCV000221530] Chr16:23630236 [GRCh38]
Chr16:23641557 [GRCh37]
Chr16:16p12.2		 likely benign|uncertain significance
NM_024675.4(PALB2):c.2117C>T (p.Thr706Ile) single nucleotide variant Familial cancer of breast [RCV001070685]|Hereditary cancer-predisposing syndrome [RCV000223246] Chr16:23630037 [GRCh38]
Chr16:23641358 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2514+136T>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000209821]|not provided [RCV000836094] Chr16:23629504 [GRCh38]
Chr16:23640825 [GRCh37]
Chr16:16p12.2		 likely benign
NM_024675.4(PALB2):c.2506G>A (p.Val836Ile) single nucleotide variant Breast-ovarian cancer, familial, susceptibility to, 5 [RCV005361295]|Familial cancer of breast [RCV000457210]|Fanconi anemia complementation group N [RCV005016588]|Hereditary cancer-predisposing syndrome [RCV000214970]|not provided [RCV000586837]|not specified [RCV001420721] Chr16:23629648 [GRCh38]
Chr16:23640969 [GRCh37]
Chr16:16p12.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.1540G>A (p.Gly514Arg) single nucleotide variant Familial cancer of breast [RCV000989570]|Familial cancer of breast [RCV001027798]|Familial cancer of breast [RCV003224228]|Hereditary cancer-predisposing syndrome [RCV000214985]|not provided [RCV000589880] Chr16:23635006 [GRCh38]
Chr16:23646327 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.154G>A (p.Val52Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000215013]|not provided [RCV000482119] Chr16:23637907 [GRCh38]
Chr16:23649228 [GRCh37]
Chr16:16p12.2		 likely benign|uncertain significance
NM_024675.4(PALB2):c.1771C>G (p.Pro591Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000215112] Chr16:23630383 [GRCh38]
Chr16:23641704 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1251C>T (p.Ser417=) single nucleotide variant Familial cancer of breast [RCV002054966]|Hereditary cancer-predisposing syndrome [RCV000216771] Chr16:23635295 [GRCh38]
Chr16:23646616 [GRCh37]
Chr16:16p12.2		 likely benign
NM_024675.4(PALB2):c.2850C>T (p.Ser950=) single nucleotide variant Familial cancer of breast [RCV001426135]|Hereditary cancer-predisposing syndrome [RCV000216811] Chr16:23623115 [GRCh38]
Chr16:23634436 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.2965G>A (p.Val989Ile) single nucleotide variant Familial cancer of breast [RCV000233398]|Hereditary cancer-predisposing syndrome [RCV000216882]|not provided [RCV001775679] Chr16:23623000 [GRCh38]
Chr16:23634321 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2693G>A (p.Trp898Ter) single nucleotide variant Breast and/or ovarian cancer [RCV003491974]|Familial cancer of breast [RCV002518293]|Hereditary cancer-predisposing syndrome [RCV000216899]|not provided [RCV000478895] Chr16:23626291 [GRCh38]
Chr16:23637612 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic
NM_024675.4(PALB2):c.2482T>C (p.Cys828Arg) single nucleotide variant Familial cancer of breast [RCV000530385]|Hereditary cancer-predisposing syndrome [RCV000216908]|not specified [RCV001175042] Chr16:23629672 [GRCh38]
Chr16:23640993 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.3035C>G (p.Thr1012Ser) single nucleotide variant Familial cancer of breast [RCV001294420]|Hereditary cancer-predisposing syndrome [RCV000219169] Chr16:23621440 [GRCh38]
Chr16:23632761 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2815T>G (p.Leu939Val) single nucleotide variant Familial cancer of breast [RCV001323873]|Hereditary cancer-predisposing syndrome [RCV000219174] Chr16:23624028 [GRCh38]
Chr16:23635349 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.3276C>T (p.Leu1092=) single nucleotide variant Familial cancer of breast [RCV000876137]|Hereditary cancer-predisposing syndrome [RCV000219218]|PALB2-related disorder [RCV004532774]|not specified [RCV002267953] Chr16:23607938 [GRCh38]
Chr16:23619259 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.338C>G (p.Pro113Arg) single nucleotide variant Familial cancer of breast [RCV000552379]|Hereditary cancer-predisposing syndrome [RCV000219266] Chr16:23636208 [GRCh38]
Chr16:23647529 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.3473_3476dup (p.Trp1159Ter) duplication Hereditary cancer-predisposing syndrome [RCV000219269] Chr16:23603543..23603544 [GRCh38]
Chr16:23614864..23614865 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.878G>A (p.Gly293Asp) single nucleotide variant Familial cancer of breast [RCV001207077]|Hereditary cancer-predisposing syndrome [RCV000219309]|not provided [RCV002285286]|not specified [RCV003330591] Chr16:23635668 [GRCh38]
Chr16:23646989 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.22C>G (p.Pro8Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000221638] Chr16:23641136 [GRCh38]
Chr16:23652457 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2673C>T (p.Cys891=) single nucleotide variant Familial cancer of breast [RCV000228269]|Hereditary cancer-predisposing syndrome [RCV000223322]|PALB2-related disorder [RCV004532783]|not provided [RCV001722181]|not specified [RCV000599763] Chr16:23626311 [GRCh38]
Chr16:23637632 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.2760dup (p.Gln921fs) duplication Familial cancer of breast [RCV003454646]|Hereditary cancer-predisposing syndrome [RCV000223425] Chr16:23624082..23624083 [GRCh38]
Chr16:23635403..23635404 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.2739C>G (p.His913Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000223456] Chr16:23626245 [GRCh38]
Chr16:23637566 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2580G>T (p.Glu860Asp) single nucleotide variant Breast-ovarian cancer, familial, susceptibility to, 5 [RCV005357695]|Familial cancer of breast [RCV000704755]|Hereditary cancer-predisposing syndrome [RCV000562114] Chr16:23629210 [GRCh38]
Chr16:23640531 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.2750T>C (p.Val917Ala) single nucleotide variant Carcinoma of colon [RCV001358536]|Familial cancer of breast [RCV000533162]|Hereditary cancer-predisposing syndrome [RCV000215127] Chr16:23624093 [GRCh38]
Chr16:23635414 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.902A>G (p.Asp301Gly) single nucleotide variant Familial cancer of breast [RCV000461086]|Hereditary cancer-predisposing syndrome [RCV000215213]|Pancreatic cancer, susceptibility to, 3 [RCV001354911]|not provided [RCV000478906]|not specified [RCV004800343] Chr16:23635644 [GRCh38]
Chr16:23646965 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.*4A>G single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000216933] Chr16:23603455 [GRCh38]
Chr16:23614776 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.29G>T (p.Ser10Ile) single nucleotide variant Familial cancer of breast [RCV000635910]|Familial cancer of breast [RCV002500733]|Hereditary cancer-predisposing syndrome [RCV000217002]|not provided [RCV000759904]|not specified [RCV001358719] Chr16:23641129 [GRCh38]
Chr16:23652450 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.3041T>C (p.Leu1014Pro) single nucleotide variant Familial cancer of breast [RCV002515654]|Hereditary cancer-predisposing syndrome [RCV000217010]|not specified [RCV001420922] Chr16:23621434 [GRCh38]
Chr16:23632755 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2403C>G (p.Asp801Glu) single nucleotide variant Familial cancer of breast [RCV000635714]|Hereditary cancer-predisposing syndrome [RCV000217062]|not provided [RCV001589150]|not specified [RCV002247653] Chr16:23629751 [GRCh38]
Chr16:23641072 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.541G>T (p.Glu181Ter) single nucleotide variant Familial cancer of breast [RCV001060848]|Hereditary breast ovarian cancer syndrome [RCV005237732]|Hereditary cancer-predisposing syndrome [RCV000219378] Chr16:23636005 [GRCh38]
Chr16:23647326 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.2968G>T (p.Glu990Ter) single nucleotide variant Breast neoplasm [RCV000504617]|Breast-ovarian cancer, familial, susceptibility to, 5 [RCV005361290]|Familial cancer of breast [RCV000635907]|Fanconi anemia complementation group N [RCV004796114]|Hereditary cancer-predisposing syndrome [RCV000219424]|not provided [RCV000657700] Chr16:23622997 [GRCh38]
Chr16:23634318 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.474G>A (p.Gln158=) single nucleotide variant Familial cancer of breast [RCV001470966]|Hereditary cancer-predisposing syndrome [RCV002338758] Chr16:23636072 [GRCh38]
Chr16:23647393 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.212-3C>T single nucleotide variant Familial cancer of breast [RCV000228404]|Hereditary cancer-predisposing syndrome [RCV000569563] Chr16:23636337 [GRCh38]
Chr16:23647658 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.1422T>G (p.Ser474Arg) single nucleotide variant Familial cancer of breast [RCV000228498] Chr16:23635124 [GRCh38]
Chr16:23646445 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2T>C (p.Met1Thr) single nucleotide variant Familial cancer of breast [RCV000230496]|Hereditary cancer-predisposing syndrome [RCV002436040] Chr16:23641156 [GRCh38]
Chr16:23652477 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic|uncertain significance
NM_024675.4(PALB2):c.3328C>G (p.Leu1110Val) single nucleotide variant Familial cancer of breast [RCV000228942]|Hereditary cancer-predisposing syndrome [RCV001019995]|not specified [RCV003323472] Chr16:23607886 [GRCh38]
Chr16:23619207 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2840T>C (p.Leu947Ser) single nucleotide variant Familial cancer of breast [RCV000229185]|Fanconi anemia complementation group N [RCV005003582]|Hereditary cancer-predisposing syndrome [RCV000564890]|Inherited breast cancer and ovarian cancer [RCV005055099]|not provided [RCV000587839]|not specified [RCV005238770] Chr16:23623125 [GRCh38]
Chr16:23634446 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.907C>G (p.Leu303Val) single nucleotide variant Familial cancer of breast [RCV000231531] Chr16:23635639 [GRCh38]
Chr16:23646960 [GRCh37]
Chr16:16p12.2		 uncertain significance
NC_000016.10:g.(?_23603162)_(23603669_?)del deletion Familial cancer of breast [RCV000231706] Chr16:23603162..23603669 [GRCh38]
Chr16:23614483..23614990 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.2964A>G (p.Gln988=) single nucleotide variant Familial cancer of breast [RCV000229549]|Hereditary cancer-predisposing syndrome [RCV000563128]|PALB2-related disorder [RCV004725117]|not provided [RCV000759903]|not specified [RCV001192741] Chr16:23623001 [GRCh38]
Chr16:23634322 [GRCh37]
Chr16:16p12.2		 likely benign|uncertain significance
NM_024675.4(PALB2):c.1468C>G (p.Pro490Ala) single nucleotide variant Familial cancer of breast [RCV000230011]|Hereditary cancer-predisposing syndrome [RCV000580968]|not provided [RCV003151762]|not specified [RCV000781690] Chr16:23635078 [GRCh38]
Chr16:23646399 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2508C>T (p.Val836=) single nucleotide variant Familial cancer of breast [RCV000230223]|Hereditary cancer-predisposing syndrome [RCV000567967]|PALB2-related disorder [RCV004541456]|not specified [RCV001030313] Chr16:23629646 [GRCh38]
Chr16:23640967 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.2881C>A (p.Leu961Met) single nucleotide variant Familial cancer of breast [RCV000232469]|Hereditary cancer-predisposing syndrome [RCV000563083]|not provided [RCV003480566] Chr16:23623084 [GRCh38]
Chr16:23634405 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2067G>T (p.Ser689=) single nucleotide variant Familial cancer of breast [RCV000230721]|Hereditary cancer-predisposing syndrome [RCV000564587]|not provided [RCV001711642] Chr16:23630087 [GRCh38]
Chr16:23641408 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.48+7G>C single nucleotide variant Familial cancer of breast [RCV000230746]|Hereditary cancer-predisposing syndrome [RCV000580140]|PALB2-related disorder [RCV004541457]|not provided [RCV000586925]|not specified [RCV000433452] Chr16:23641103 [GRCh38]
Chr16:23652424 [GRCh37]
Chr16:16p12.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.3553T>C (p.Tyr1185His) single nucleotide variant Familial cancer of breast [RCV000230845]|Hereditary cancer-predisposing syndrome [RCV001178373] Chr16:23603467 [GRCh38]
Chr16:23614788 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.3(PALB2):c.-200_*297dup4058 duplication Familial cancer of breast [RCV000232927] Chr16:23603162..23641357 [GRCh38]
Chr16:23614483..23652678 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1226A>G (p.Tyr409Cys) single nucleotide variant Familial cancer of breast [RCV000230943]|Hereditary cancer [RCV003492015]|Hereditary cancer-predisposing syndrome [RCV000709387]|not provided [RCV000985884] Chr16:23635320 [GRCh38]
Chr16:23646641 [GRCh37]
Chr16:16p12.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.2624T>C (p.Met875Thr) single nucleotide variant Familial cancer of breast [RCV000231157]|Hereditary cancer-predisposing syndrome [RCV004649110]|not specified [RCV000780566] Chr16:23626360 [GRCh38]
Chr16:23637681 [GRCh37]
Chr16:16p12.2		 likely benign|uncertain significance
NM_024675.4(PALB2):c.1463G>T (p.Ser488Ile) single nucleotide variant Familial cancer of breast [RCV000226177]|Familial cancer of breast [RCV002487087]|Hereditary cancer-predisposing syndrome [RCV000564692]|not provided [RCV000589383] Chr16:23635083 [GRCh38]
Chr16:23646404 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.288A>C (p.Thr96=) single nucleotide variant Familial cancer of breast [RCV000226308]|Hereditary cancer-predisposing syndrome [RCV000567712]|not specified [RCV000439616] Chr16:23636258 [GRCh38]
Chr16:23647579 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.2928G>A (p.Arg976=) single nucleotide variant Familial cancer of breast [RCV001464805]|Hereditary cancer-predisposing syndrome [RCV005384685]|not specified [RCV000607008] Chr16:23623037 [GRCh38]
Chr16:23634358 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.2801_2803dup (p.Val934dup) duplication Familial cancer of breast [RCV000231506] Chr16:23624039..23624040 [GRCh38]
Chr16:23635360..23635361 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.7G>T (p.Glu3Ter) single nucleotide variant Familial cancer of breast [RCV000231797]|Hereditary cancer-predisposing syndrome [RCV000582525]|not provided [RCV000657770] Chr16:23641151 [GRCh38]
Chr16:23652472 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.1369G>T (p.Glu457Ter) single nucleotide variant Familial cancer of breast [RCV000231944] Chr16:23635177 [GRCh38]
Chr16:23646498 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic
NM_024675.4(PALB2):c.2836G>T (p.Ala946Ser) single nucleotide variant Familial cancer of breast [RCV000226341]|Hereditary cancer-predisposing syndrome [RCV000574799]|not provided [RCV001800599] Chr16:23623129 [GRCh38]
Chr16:23634450 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.3420G>A (p.Trp1140Ter) single nucleotide variant Familial cancer of breast [RCV000226507]|Hereditary cancer-predisposing syndrome [RCV004020882] Chr16:23603600 [GRCh38]
Chr16:23614921 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic
NM_024675.4(PALB2):c.991G>C (p.Glu331Gln) single nucleotide variant Familial cancer of breast [RCV000226576]|Hereditary cancer-predisposing syndrome [RCV000568702]|not provided [RCV004777638] Chr16:23635555 [GRCh38]
Chr16:23646876 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1374T>C (p.Thr458=) single nucleotide variant Familial cancer of breast [RCV001416070]|Hereditary cancer-predisposing syndrome [RCV001011251] Chr16:23635172 [GRCh38]
Chr16:23646493 [GRCh37]
Chr16:16p12.2		 likely benign
NM_024675.4(PALB2):c.1455T>G (p.Thr485=) single nucleotide variant Familial cancer of breast [RCV000232336]|Familial cancer of breast [RCV002500814]|Hereditary cancer-predisposing syndrome [RCV000574541]|not provided [RCV001697592]|not specified [RCV000438747] Chr16:23635091 [GRCh38]
Chr16:23646412 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.2427A>C (p.Thr809=) single nucleotide variant Familial cancer of breast [RCV001079062]|Hereditary cancer-predisposing syndrome [RCV000569833]|not provided [RCV000840886] Chr16:23629727 [GRCh38]
Chr16:23641048 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.3154G>A (p.Asp1052Asn) single nucleotide variant Familial cancer of breast [RCV000233764]|Hereditary cancer-predisposing syndrome [RCV001188179] Chr16:23614051 [GRCh38]
Chr16:23625372 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2201C>A (p.Thr734Asn) single nucleotide variant Breast-ovarian cancer, familial, susceptibility to, 5 [RCV005361461]|Familial cancer of breast [RCV000233965]|Familial cancer of breast [RCV002487088]|Fanconi anemia complementation group N [RCV001119746]|Hereditary cancer-predisposing syndrome [RCV000569446]|PALB2-related disorder [RCV004739637]|not provided [RCV001566044]|not specified [RCV001820767] Chr16:23629953 [GRCh38]
Chr16:23641274 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.2058G>T (p.Arg686Ser) single nucleotide variant Familial cancer of breast [RCV000234183]|Hereditary cancer-predisposing syndrome [RCV000776230]|not provided [RCV000481768] Chr16:23630096 [GRCh38]
Chr16:23641417 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.365A>G (p.Asp122Gly) single nucleotide variant Familial cancer of breast [RCV000232654]|Hereditary cancer-predisposing syndrome [RCV001189069]|not provided [RCV004721317] Chr16:23636181 [GRCh38]
Chr16:23647502 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.170G>A (p.Cys57Tyr) single nucleotide variant Familial cancer of breast [RCV000232697]|Hereditary cancer-predisposing syndrome [RCV001184078] Chr16:23637891 [GRCh38]
Chr16:23649212 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2594C>G (p.Ser865Ter) single nucleotide variant Familial cancer of breast [RCV000234617]|Hereditary cancer-predisposing syndrome [RCV003352808] Chr16:23626390 [GRCh38]
Chr16:23637711 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.1910C>T (p.Pro637Leu) single nucleotide variant Familial cancer of breast [RCV000233232]|Hereditary cancer-predisposing syndrome [RCV001013662]|not provided [RCV003324737] Chr16:23630244 [GRCh38]
Chr16:23641565 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1753G>A (p.Asp585Asn) single nucleotide variant Familial cancer of breast [RCV000227668]|Hereditary cancer-predisposing syndrome [RCV000773064]|not provided [RCV002277593] Chr16:23630401 [GRCh38]
Chr16:23641722 [GRCh37]
Chr16:16p12.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.1057A>G (p.Lys353Glu) single nucleotide variant Familial cancer of breast [RCV000227723] Chr16:23635489 [GRCh38]
Chr16:23646810 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2509G>T (p.Glu837Ter) single nucleotide variant Familial cancer of breast [RCV000227927]|Hereditary breast ovarian cancer syndrome [RCV001193462]|Hereditary cancer-predisposing syndrome [RCV000454198]|Pancreatic cancer, susceptibility to, 3 [RCV001030314]|not provided [RCV000235331] Chr16:23629645 [GRCh38]
Chr16:23640966 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.517G>A (p.Gly173Arg) single nucleotide variant Familial cancer of breast [RCV000234668]|Hereditary cancer-predisposing syndrome [RCV000573091] Chr16:23636029 [GRCh38]
Chr16:23647350 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2792T>C (p.Leu931Pro) single nucleotide variant Familial cancer of breast [RCV000233853]|Hereditary cancer-predisposing syndrome [RCV000579478]|not provided [RCV003325474]|not specified [RCV001174956] Chr16:23624051 [GRCh38]
Chr16:23635372 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2066C>T (p.Ser689Leu) single nucleotide variant Familial cancer of breast [RCV000228021]|Hereditary cancer-predisposing syndrome [RCV000774634]|PALB2-related disorder [RCV004541455]|not provided [RCV001030274] Chr16:23630088 [GRCh38]
Chr16:23641409 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.1160C>G (p.Ser387Cys) single nucleotide variant Familial cancer of breast [RCV000228108]|Hereditary cancer-predisposing syndrome [RCV000572350] Chr16:23635386 [GRCh38]
Chr16:23646707 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2282C>T (p.Ala761Val) single nucleotide variant Familial cancer of breast [RCV000226043] Chr16:23629872 [GRCh38]
Chr16:23641193 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2653C>A (p.Pro885Thr) single nucleotide variant Familial cancer of breast [RCV000234440]|Familial cancer of breast [RCV002494662]|Hereditary cancer-predisposing syndrome [RCV000573285]|not provided [RCV004772882]|not specified [RCV000781692] Chr16:23626331 [GRCh38]
Chr16:23637652 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.3179G>C (p.Cys1060Ser) single nucleotide variant Familial cancer of breast [RCV000228718] Chr16:23614026 [GRCh38]
Chr16:23625347 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.871G>A (p.Ala291Thr) single nucleotide variant Familial cancer of breast [RCV000228762]|Hereditary cancer-predisposing syndrome [RCV000772149]|not specified [RCV003387816] Chr16:23635675 [GRCh38]
Chr16:23646996 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.79G>T (p.Glu27Ter) single nucleotide variant Familial cancer of breast [RCV000228882]|Familial cancer of breast [RCV002500815]|Fanconi anemia complementation group N [RCV003485568]|Hereditary cancer-predisposing syndrome [RCV000454231]|Lung cancer [RCV002282082]|Malignant tumor of breast [RCV001175093]|PALB2-related disorder [RCV004532964]|not provided [RCV000255635] Chr16:23638099 [GRCh38]
Chr16:23649420 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic
NM_024675.4(PALB2):c.3355C>T (p.Leu1119=) single nucleotide variant Familial cancer of breast [RCV001438030] Chr16:23603665 [GRCh38]
Chr16:23614986 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.2079del (p.His693fs) deletion Familial cancer of breast [RCV000234710] Chr16:23630075 [GRCh38]
Chr16:23641396 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.1809A>G (p.Leu603=) single nucleotide variant Familial cancer of breast [RCV000229237]|Hereditary cancer-predisposing syndrome [RCV001013257] Chr16:23630345 [GRCh38]
Chr16:23641666 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.2377G>A (p.Gly793Ser) single nucleotide variant Familial cancer of breast [RCV000229269]|Hereditary cancer-predisposing syndrome [RCV000570086]|not specified [RCV002247680] Chr16:23629777 [GRCh38]
Chr16:23641098 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1861C>A (p.Pro621Thr) single nucleotide variant Familial cancer of breast [RCV000989565]|Hereditary cancer-predisposing syndrome [RCV000454184]|not provided [RCV000235273]|not specified [RCV001192764] Chr16:23630293 [GRCh38]
Chr16:23641614 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.12dup (p.Pro5fs) duplication Familial cancer of breast [RCV000686286]|Hereditary breast ovarian cancer syndrome [RCV004525908]|Hereditary cancer-predisposing syndrome [RCV001010853]|not provided [RCV000235308] Chr16:23641145..23641146 [GRCh38]
Chr16:23652466..23652467 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic
NM_024675.4(PALB2):c.2435C>T (p.Pro812Leu) single nucleotide variant Familial cancer of breast [RCV000635929]|Familial cancer of breast [RCV002494681]|Hereditary cancer-predisposing syndrome [RCV000575251]|Malignant tumor of breast [RCV001357974]|not provided [RCV000235316]|not specified [RCV003330604] Chr16:23629719 [GRCh38]
Chr16:23641040 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.3201+5_3201+8del microsatellite Familial cancer of breast [RCV005090193]|Hereditary cancer-predisposing syndrome [RCV001019200]|not provided [RCV000235324] Chr16:23613996..23613999 [GRCh38]
Chr16:23625317..23625320 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1714del (p.Ser572fs) deletion Familial cancer of breast [RCV003454718]|not provided [RCV000235421] Chr16:23630440 [GRCh38]
Chr16:23641761 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic
NM_024675.4(PALB2):c.2053A>C (p.Lys685Gln) single nucleotide variant Familial cancer of breast [RCV001854851]|Hereditary cancer-predisposing syndrome [RCV000566295]|not provided [RCV000235440] Chr16:23630101 [GRCh38]
Chr16:23641422 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.1467_1468del (p.Pro490fs) microsatellite Familial cancer of breast [RCV001854854]|not provided [RCV000235468] Chr16:23635078..23635079 [GRCh38]
Chr16:23646399..23646400 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic
NM_024675.4(PALB2):c.3014T>C (p.Phe1005Ser) single nucleotide variant Familial cancer of breast [RCV000635611]|Hereditary cancer-predisposing syndrome [RCV000565406]|not provided [RCV000235539] Chr16:23621461 [GRCh38]
Chr16:23632782 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.3239_3240del (p.Lys1080fs) deletion Familial cancer of breast [RCV000464814]|Hereditary cancer-predisposing syndrome [RCV000575894]|not provided [RCV000235489] Chr16:23607974..23607975 [GRCh38]
Chr16:23619295..23619296 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic
NM_024675.4(PALB2):c.2444C>T (p.Ser815Leu) single nucleotide variant Familial cancer of breast [RCV000695288]|Hereditary cancer-predisposing syndrome [RCV000572013]|not provided [RCV000235600] Chr16:23629710 [GRCh38]
Chr16:23641031 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1570_1571del (p.Ser524fs) deletion not specified [RCV000235607] Chr16:23634975..23634976 [GRCh38]
Chr16:23646296..23646297 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.3047T>G (p.Phe1016Cys) single nucleotide variant Familial cancer of breast [RCV000635899]|Fanconi anemia complementation group N [RCV005016646]|Hereditary cancer-predisposing syndrome [RCV000563250]|not provided [RCV000235618] Chr16:23621428 [GRCh38]
Chr16:23632749 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2860G>T (p.Glu954Ter) single nucleotide variant Familial cancer of breast [RCV001854860]|not provided [RCV000235480] Chr16:23623105 [GRCh38]
Chr16:23634426 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.616C>T (p.Leu206Phe) single nucleotide variant Familial cancer of breast [RCV001854875]|Hereditary cancer-predisposing syndrome [RCV004943825]|not provided [RCV000235659] Chr16:23635930 [GRCh38]
Chr16:23647251 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.155T>C (p.Val52Ala) single nucleotide variant Breast neoplasm [RCV000417330]|Familial cancer of breast [RCV000462987]|Hereditary cancer-predisposing syndrome [RCV000568339]|not provided [RCV000235666] Chr16:23637906 [GRCh38]
Chr16:23649227 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.2342G>A (p.Ser781Asn) single nucleotide variant Familial cancer of breast [RCV000695049]|Hereditary cancer-predisposing syndrome [RCV001180224]|Malignant tumor of breast [RCV001355456]|not provided [RCV000235686] Chr16:23629812 [GRCh38]
Chr16:23641133 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2267_2283dup (p.His762fs) duplication Familial cancer of breast [RCV000461617]|Fanconi anemia complementation group N [RCV003485569]|Hereditary cancer-predisposing syndrome [RCV000454296]|not provided [RCV000235770] Chr16:23629870..23629871 [GRCh38]
Chr16:23641191..23641192 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic
NM_024675.4(PALB2):c.3436C>A (p.Gln1146Lys) single nucleotide variant Familial cancer of breast [RCV000553351]|Hereditary cancer-predisposing syndrome [RCV001020303]|not provided [RCV000235777]|not specified [RCV000780559] Chr16:23603584 [GRCh38]
Chr16:23614905 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.398G>A (p.Ser133Asn) single nucleotide variant Familial cancer of breast [RCV000691656]|Hereditary cancer-predisposing syndrome [RCV000570939]|not provided [RCV000235826]|not specified [RCV000780568] Chr16:23636148 [GRCh38]
Chr16:23647469 [GRCh37]
Chr16:16p12.2		 likely benign|uncertain significance
NM_024675.4(PALB2):c.1189A>G (p.Thr397Ala) single nucleotide variant Familial cancer of breast [RCV000635934]|not provided [RCV000235843]|not specified [RCV003987476] Chr16:23635357 [GRCh38]
Chr16:23646678 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1538del (p.Thr513fs) deletion Familial cancer of breast [RCV000465796]|Hereditary cancer-predisposing syndrome [RCV004649111]|not provided [RCV000235884] Chr16:23635008 [GRCh38]
Chr16:23646329 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic
NM_024675.4(PALB2):c.3491G>A (p.Trp1164Ter) single nucleotide variant Familial cancer of breast [RCV000477362]|Hereditary cancer-predisposing syndrome [RCV000454361]|not provided [RCV000235914] Chr16:23603529 [GRCh38]
Chr16:23614850 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic
NM_024675.4(PALB2):c.1256G>T (p.Cys419Phe) single nucleotide variant Familial cancer of breast [RCV000686671]|Hereditary cancer-predisposing syndrome [RCV002258864]|not provided [RCV000759893] Chr16:23635290 [GRCh38]
Chr16:23646611 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2148T>A (p.Asn716Lys) single nucleotide variant Familial cancer of breast [RCV000464776]|Familial cancer of breast [RCV002479940]|Hereditary cancer-predisposing syndrome [RCV000574979]|not provided [RCV000236038] Chr16:23630006 [GRCh38]
Chr16:23641327 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.3492G>A (p.Trp1164Ter) single nucleotide variant Familial cancer of breast [RCV000662671]|Hereditary cancer-predisposing syndrome [RCV001020433]|not provided [RCV000235984] Chr16:23603528 [GRCh38]
Chr16:23614849 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic
NM_024675.4(PALB2):c.1655A>G (p.Gln552Arg) single nucleotide variant Familial cancer of breast [RCV000535862]|Hereditary cancer-predisposing syndrome [RCV000565356]|not provided [RCV000235973] Chr16:23634891 [GRCh38]
Chr16:23646212 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2197A>G (p.Thr733Ala) single nucleotide variant Familial cancer of breast [RCV000470751]|Familial cancer of breast [RCV002487097]|Hereditary cancer-predisposing syndrome [RCV000571493]|not provided [RCV000236085]|not specified [RCV005230178] Chr16:23629957 [GRCh38]
Chr16:23641278 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.2961dup (p.Gln988fs) duplication not provided [RCV000236132] Chr16:23623003..23623004 [GRCh38]
Chr16:23634324..23634325 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.3436C>G (p.Gln1146Glu) single nucleotide variant Familial cancer of breast [RCV001854872]|Hereditary cancer-predisposing syndrome [RCV001183519]|not provided [RCV000236192] Chr16:23603584 [GRCh38]
Chr16:23614905 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.1727G>A (p.Ser576Asn) single nucleotide variant Familial cancer of breast [RCV001317387]|Hereditary cancer-predisposing syndrome [RCV000772053]|not provided [RCV000236534] Chr16:23630427 [GRCh38]
Chr16:23641748 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2066C>A (p.Ser689Ter) single nucleotide variant Familial cancer of breast [RCV003454716]|Hereditary cancer-predisposing syndrome [RCV002418041]|not provided [RCV000236381] Chr16:23630088 [GRCh38]
Chr16:23641409 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.2996+5G>T single nucleotide variant Familial cancer of breast [RCV000468560]|Hereditary cancer-predisposing syndrome [RCV000562437]|PALB2-related disorder [RCV004541468]|not provided [RCV000587970]|not specified [RCV005238783] Chr16:23622964 [GRCh38]
Chr16:23634285 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.2204C>T (p.Pro735Leu) single nucleotide variant Familial cancer of breast [RCV000537105]|Hereditary cancer-predisposing syndrome [RCV000566819]|not provided [RCV000236741]|not specified [RCV001171430] Chr16:23629950 [GRCh38]
Chr16:23641271 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1294C>T (p.His432Tyr) single nucleotide variant Familial cancer of breast [RCV003607277]|not provided [RCV000236572] Chr16:23635252 [GRCh38]
Chr16:23646573 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.668T>C (p.Ile223Thr) single nucleotide variant Familial cancer of breast [RCV000635688]|Hereditary cancer-predisposing syndrome [RCV000572381]|not provided [RCV000236902]|not specified [RCV001193466] Chr16:23635878 [GRCh38]
Chr16:23647199 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.205C>T (p.His69Tyr) single nucleotide variant Familial cancer of breast [RCV000823428]|Familial cancer of breast [RCV002494677]|Hereditary cancer-predisposing syndrome [RCV000575557]|not provided [RCV000236918]|not specified [RCV000781688] Chr16:23637856 [GRCh38]
Chr16:23649177 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.1A>G (p.Met1Val) single nucleotide variant Familial cancer of breast [RCV000696235]|Hereditary cancer-predisposing syndrome [RCV002418043]|not provided [RCV000237093] Chr16:23641157 [GRCh38]
Chr16:23652478 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic
NM_024675.4(PALB2):c.472C>T (p.Gln158Ter) single nucleotide variant Familial cancer of breast [RCV001382726]|not provided [RCV000237059] Chr16:23636074 [GRCh38]
Chr16:23647395 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic
NM_024675.4(PALB2):c.931A>G (p.Lys311Glu) single nucleotide variant Familial cancer of breast [RCV000528073]|Hereditary cancer-predisposing syndrome [RCV000564202]|not provided [RCV001584261] Chr16:23635615 [GRCh38]
Chr16:23646936 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.1046del (p.Asn349fs) deletion Familial cancer of breast [RCV000555459]|Hereditary cancer-predisposing syndrome [RCV000563951]|not provided [RCV001268549] Chr16:23635500 [GRCh38]
Chr16:23646821 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.-36G>A single nucleotide variant not specified [RCV000605099] Chr16:23641193 [GRCh38]
Chr16:23652514 [GRCh37]
Chr16:16p12.2		 likely benign
NM_024675.4(PALB2):c.-39G>T single nucleotide variant not specified [RCV000599848] Chr16:23641196 [GRCh38]
Chr16:23652517 [GRCh37]
Chr16:16p12.2		 likely benign
NM_024675.4(PALB2):c.195G>T (p.Pro65=) single nucleotide variant Familial cancer of breast [RCV005427135]|Hereditary cancer-predisposing syndrome [RCV005384785]|not specified [RCV000606724] Chr16:23637866 [GRCh38]
Chr16:23649187 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.640A>C (p.Thr214Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000562571] Chr16:23635906 [GRCh38]
Chr16:23647227 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.814G>T (p.Glu272Ter) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000562700] Chr16:23635732 [GRCh38]
Chr16:23647053 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.2802A>G (p.Val934=) single nucleotide variant Familial cancer of breast [RCV001495851]|Hereditary cancer-predisposing syndrome [RCV000562803]|not provided [RCV000759901] Chr16:23624041 [GRCh38]
Chr16:23635362 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.2635A>G (p.Arg879Gly) single nucleotide variant Familial cancer of breast [RCV001853732]|Hereditary cancer-predisposing syndrome [RCV000563383] Chr16:23626349 [GRCh38]
Chr16:23637670 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.447G>T (p.Lys149Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000563281] Chr16:23636099 [GRCh38]
Chr16:23647420 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1285A>C (p.Ile429Leu) single nucleotide variant Breast-ovarian cancer, familial, susceptibility to, 5 [RCV005357648]|Hereditary cancer-predisposing syndrome [RCV000563315]|not provided [RCV005000246] Chr16:23635261 [GRCh38]
Chr16:23646582 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.948C>T (p.Pro316=) single nucleotide variant Familial cancer of breast [RCV000524878]|Hereditary cancer-predisposing syndrome [RCV003159787] Chr16:23635598 [GRCh38]
Chr16:23646919 [GRCh37]
Chr16:16p12.2		 likely benign
NM_024675.4(PALB2):c.2748+1G>A single nucleotide variant Familial cancer of breast [RCV001234382]|Fanconi anemia complementation group N [RCV005018988]|Hereditary cancer-predisposing syndrome [RCV000563623]|not provided [RCV000985891] Chr16:23626235 [GRCh38]
Chr16:23637556 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic
NM_024675.4(PALB2):c.3506C>G (p.Ser1169Cys) single nucleotide variant Familial cancer of breast [RCV000543689]|Hereditary cancer-predisposing syndrome [RCV000563642] Chr16:23603514 [GRCh38]
Chr16:23614835 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.560C>A (p.Pro187His) single nucleotide variant Breast-ovarian cancer, familial, susceptibility to, 5 [RCV003448324]|Familial cancer of breast [RCV000635903]|Hereditary cancer [RCV003492103]|Hereditary cancer-predisposing syndrome [RCV000563795]|not provided [RCV002476221] Chr16:23635986 [GRCh38]
Chr16:23647307 [GRCh37]
Chr16:16p12.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.2719G>A (p.Glu907Lys) single nucleotide variant Familial cancer of breast [RCV001853728]|Hereditary cancer-predisposing syndrome [RCV000563796]|not specified [RCV003994023] Chr16:23626265 [GRCh38]
Chr16:23637586 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1334A>C (p.Lys445Thr) single nucleotide variant Familial cancer of breast [RCV002295302]|Hereditary cancer-predisposing syndrome [RCV000564662] Chr16:23635212 [GRCh38]
Chr16:23646533 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.3211T>C (p.Phe1071Leu) single nucleotide variant Familial cancer of breast [RCV000541418]|Hereditary cancer-predisposing syndrome [RCV000566217] Chr16:23608003 [GRCh38]
Chr16:23619324 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.675A>G (p.Pro225=) single nucleotide variant Familial cancer of breast [RCV001473695]|Hereditary cancer-predisposing syndrome [RCV000573904] Chr16:23635871 [GRCh38]
Chr16:23647192 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.2297C>T (p.Ser766Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000564510] Chr16:23629857 [GRCh38]
Chr16:23641178 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.153A>T (p.Thr51=) single nucleotide variant not specified [RCV000603815] Chr16:23637908 [GRCh38]
Chr16:23649229 [GRCh37]
Chr16:16p12.2		 likely benign
NM_024675.4(PALB2):c.2997-18A>C single nucleotide variant Familial cancer of breast [RCV002529472]|Hereditary cancer-predisposing syndrome [RCV001175783]|not specified [RCV000604879] Chr16:23621496 [GRCh38]
Chr16:23632817 [GRCh37]
Chr16:16p12.2		 likely benign
NM_024675.4(PALB2):c.3517G>A (p.Ala1173Thr) single nucleotide variant Familial cancer of breast [RCV000635665]|Hereditary cancer-predisposing syndrome [RCV000566111] Chr16:23603503 [GRCh38]
Chr16:23614824 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1266A>G (p.Lys422=) single nucleotide variant Familial cancer of breast [RCV001475264]|Hereditary cancer-predisposing syndrome [RCV000566243] Chr16:23635280 [GRCh38]
Chr16:23646601 [GRCh37]
Chr16:16p12.2		 likely benign
NM_024675.4(PALB2):c.544del (p.Ile182fs) deletion Familial cancer of breast [RCV001218112]|Hereditary cancer-predisposing syndrome [RCV002347972]|not provided [RCV000255783] Chr16:23636002 [GRCh38]
Chr16:23647323 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic
NM_024675.4(PALB2):c.3041_3042del (p.Leu1014fs) deletion not provided [RCV000255792] Chr16:23621433..23621434 [GRCh38]
Chr16:23632754..23632755 [GRCh37]
Chr16:16p12.2		 likely pathogenic
NM_024675.4(PALB2):c.3114-1G>A single nucleotide variant Familial cancer of breast [RCV000551424]|Hereditary cancer-predisposing syndrome [RCV000569707]|Pancreatic cancer, susceptibility to, 3 [RCV005361500]|not provided [RCV000255848] Chr16:23614092 [GRCh38]
Chr16:23625413 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic
NM_024675.4(PALB2):c.178C>T (p.Gln60Ter) single nucleotide variant Familial cancer of breast [RCV002518769]|Hereditary cancer-predisposing syndrome [RCV001013160]|not provided [RCV000255924] Chr16:23637883 [GRCh38]
Chr16:23649204 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic
NM_024675.4(PALB2):c.2937T>C (p.Ser979=) single nucleotide variant Familial cancer of breast [RCV005056219]|Hereditary cancer-predisposing syndrome [RCV000566489] Chr16:23623028 [GRCh38]
Chr16:23634349 [GRCh37]
Chr16:16p12.2		 likely benign
NM_024675.4(PALB2):c.421C>T (p.Gln141Ter) single nucleotide variant Familial cancer of breast [RCV003454783]|not provided [RCV000256010] Chr16:23636125 [GRCh38]
Chr16:23647446 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic
NM_024675.4(PALB2):c.1048del (p.Gln350fs) deletion not provided [RCV000256061] Chr16:23635498 [GRCh38]
Chr16:23646819 [GRCh37]
Chr16:16p12.2		 likely pathogenic
NM_024675.4(PALB2):c.3017del (p.Phe1005_Leu1006insTer) deletion Familial cancer of breast [RCV000576650]|Hereditary cancer-predisposing syndrome [RCV001018066]|Malignant tumor of breast [RCV003492021]|not provided [RCV000256067] Chr16:23621458 [GRCh38]
Chr16:23632779 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic
NM_024675.4(PALB2):c.2835-2A>C single nucleotide variant Familial cancer of breast [RCV003454780]|not provided [RCV000256178] Chr16:23623132 [GRCh38]
Chr16:23634453 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic
NM_024675.4(PALB2):c.2370A>G (p.Gln790=) single nucleotide variant Familial cancer of breast [RCV000528789] Chr16:23629784 [GRCh38]
Chr16:23641105 [GRCh37]
Chr16:16p12.2		 likely benign|uncertain significance
NM_024675.4(PALB2):c.2764A>G (p.Ile922Val) single nucleotide variant Familial cancer of breast [RCV000799150]|Hereditary cancer-predisposing syndrome [RCV000567694] Chr16:23624079 [GRCh38]
Chr16:23635400 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1953A>G (p.Gly651=) single nucleotide variant Familial cancer of breast [RCV003767128]|Hereditary cancer-predisposing syndrome [RCV000566643] Chr16:23630201 [GRCh38]
Chr16:23641522 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.6C>T (p.Asp2=) single nucleotide variant Familial cancer of breast [RCV001399255]|Hereditary cancer-predisposing syndrome [RCV002367812] Chr16:23641152 [GRCh38]
Chr16:23652473 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.1429del (p.Thr477fs) deletion Familial cancer of breast [RCV001853733]|Hereditary cancer-predisposing syndrome [RCV000567168] Chr16:23635117 [GRCh38]
Chr16:23646438 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.1937_1938dup (p.His647fs) microsatellite Familial cancer of breast [RCV001380465]|not provided [RCV000515715] Chr16:23630215..23630216 [GRCh38]
Chr16:23641536..23641537 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.1169C>A (p.Ser390Tyr) single nucleotide variant Familial cancer of breast [RCV000529031] Chr16:23635377 [GRCh38]
Chr16:23646698 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.3(PALB2):c.3202-?_3350+?del deletion Familial cancer of breast [RCV000239995]   pathogenic
NM_024675.4(PALB2):c.1377C>A (p.Asp459Glu) single nucleotide variant Familial cancer of breast [RCV001218569]|Hereditary cancer-predisposing syndrome [RCV000564673] Chr16:23635169 [GRCh38]
Chr16:23646490 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1141C>T (p.Leu381Phe) single nucleotide variant Familial cancer of breast [RCV001239808]|Hereditary cancer-predisposing syndrome [RCV000566800] Chr16:23635405 [GRCh38]
Chr16:23646726 [GRCh37]
Chr16:16p12.2		 likely benign|uncertain significance
NM_024675.3(PALB2):c.1685-?_2748+?dup duplication Familial cancer of breast [RCV000240558]   likely pathogenic
NM_024675.4(PALB2):c.113C>G (p.Ala38Gly) single nucleotide variant Familial cancer of breast [RCV000547522]|Fanconi anemia complementation group N [RCV000328650]|Hereditary cancer-predisposing syndrome [RCV000271163]|not specified [RCV005407049] Chr16:23637948 [GRCh38]
Chr16:23649269 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.601dup (p.Ser201fs) duplication Breast-ovarian cancer, familial, susceptibility to, 1 [RCV003992255]|Familial cancer of breast [RCV000576582]|Hereditary cancer-predisposing syndrome [RCV000454239]|not provided [RCV000275856] Chr16:23635944..23635945 [GRCh38]
Chr16:23647265..23647266 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic
NM_024675.4(PALB2):c.2029del (p.Val677fs) deletion not provided [RCV000391283] Chr16:23630125 [GRCh38]
Chr16:23641446 [GRCh37]
Chr16:16p12.2		 likely pathogenic
NM_024675.4(PALB2):c.-149G>A single nucleotide variant Fanconi anemia complementation group N [RCV000278764]|Hereditary cancer-predisposing syndrome [RCV000336126] Chr16:23641306 [GRCh38]
Chr16:23652627 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2428C>T (p.Pro810Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004944016]|not provided [RCV000586718] Chr16:23629726 [GRCh38]
Chr16:23641047 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.413A>C (p.Glu138Ala) single nucleotide variant Familial cancer of breast [RCV000814273]|not provided [RCV000586801] Chr16:23636133 [GRCh38]
Chr16:23647454 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2222G>T (p.Gly741Val) single nucleotide variant Familial cancer of breast [RCV000705027]|Hereditary cancer-predisposing syndrome [RCV000568439] Chr16:23629932 [GRCh38]
Chr16:23641253 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.74A>G (p.Lys25Arg) single nucleotide variant not specified [RCV001269179] Chr16:23638104 [GRCh38]
Chr16:23649425 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1193_1194del (p.Val398fs) deletion Breast and/or ovarian cancer [RCV001270992] Chr16:23635352..23635353 [GRCh38]
Chr16:23646673..23646674 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.375A>G (p.Gln125=) single nucleotide variant Familial cancer of breast [RCV001482322]|Hereditary cancer-predisposing syndrome [RCV000574083] Chr16:23636171 [GRCh38]
Chr16:23647492 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.585A>T (p.Ile195=) single nucleotide variant Breast-ovarian cancer, familial, susceptibility to, 5 [RCV005357567]|Familial cancer of breast [RCV000547695]|Hereditary cancer-predisposing syndrome [RCV000570015]|not provided [RCV001722467] Chr16:23635961 [GRCh38]
Chr16:23647282 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.810_828del (p.Ser270fs) deletion Hereditary cancer-predisposing syndrome [RCV000564818] Chr16:23635718..23635736 [GRCh38]
Chr16:23647039..23647057 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.1803G>C (p.Lys601Asn) single nucleotide variant Familial cancer of breast [RCV001213794]|Hereditary cancer-predisposing syndrome [RCV000567899] Chr16:23630351 [GRCh38]
Chr16:23641672 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1042_1044del (p.Gln348del) deletion not provided [RCV000722832] Chr16:23635502..23635504 [GRCh38]
Chr16:23646823..23646825 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1434T>C (p.Ser478=) single nucleotide variant Familial cancer of breast [RCV005422298]|Hereditary cancer-predisposing syndrome [RCV003311308] Chr16:23635112 [GRCh38]
Chr16:23646433 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.2959C>A (p.Gln987Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003311312] Chr16:23623006 [GRCh38]
Chr16:23634327 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1539A>G (p.Thr513=) single nucleotide variant Familial cancer of breast [RCV005422299]|Hereditary cancer-predisposing syndrome [RCV003311313] Chr16:23635007 [GRCh38]
Chr16:23646328 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.2425A>T (p.Thr809Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000567979] Chr16:23629729 [GRCh38]
Chr16:23641050 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1458A>G (p.Lys486=) single nucleotide variant Familial cancer of breast [RCV000526724]|Hereditary cancer-predisposing syndrome [RCV004943959]|not provided [RCV000985885] Chr16:23635088 [GRCh38]
Chr16:23646409 [GRCh37]
Chr16:16p12.2		 benign|likely benign|uncertain significance
NM_024675.3(PALB2):c.1724dup (p.Ser576Glufs) duplication Familial cancer of breast [RCV003449257]|Hereditary cancer-predisposing syndrome [RCV002404276]|not provided [RCV000487876] Chr16:23630428..23630429 [GRCh38]
Chr16:23641749..23641750 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic
NM_024675.4(PALB2):c.2788A>T (p.Asn930Tyr) single nucleotide variant Familial cancer of breast [RCV000559528]|Familial pancreatic carcinoma [RCV005357566]|Hereditary cancer-predisposing syndrome [RCV000565362]|not provided [RCV001571859]|not specified [RCV001174763] Chr16:23624055 [GRCh38]
Chr16:23635376 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.3279T>C (p.Ile1093=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000565346] Chr16:23607935 [GRCh38]
Chr16:23619256 [GRCh37]
Chr16:16p12.2		 likely benign
NM_024675.4(PALB2):c.2245G>T (p.Glu749Ter) single nucleotide variant Familial cancer of breast [RCV001242094]|Hereditary cancer-predisposing syndrome [RCV000568921]|Pancreatic cancer, susceptibility to, 3 [RCV003338667] Chr16:23629909 [GRCh38]
Chr16:23641230 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic
NM_024675.4(PALB2):c.1061C>G (p.Ser354Cys) single nucleotide variant Familial cancer of breast [RCV000532399]|Hereditary cancer-predisposing syndrome [RCV005384759] Chr16:23635485 [GRCh38]
Chr16:23646806 [GRCh37]
Chr16:16p12.2		 likely benign|uncertain significance
NM_024675.4(PALB2):c.1263_1265dup (p.Lys422dup) duplication Familial cancer of breast [RCV001343804]|not provided [RCV000722439] Chr16:23635280..23635281 [GRCh38]
Chr16:23646601..23646602 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.793A>G (p.Ile265Val) single nucleotide variant Familial cancer of breast [RCV000531817]|Hereditary cancer-predisposing syndrome [RCV000773072] Chr16:23635753 [GRCh38]
Chr16:23647074 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2982T>A (p.Phe994Leu) single nucleotide variant Familial cancer of breast [RCV000532634] Chr16:23622983 [GRCh38]
Chr16:23634304 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2818del (p.Glu940fs) deletion Familial cancer of breast [RCV000532811] Chr16:23624025 [GRCh38]
Chr16:23635346 [GRCh37]
Chr16:16p12.2		 pathogenic
NC_000016.9:g.(?_23614482)_(23614991_23619184)del deletion Malignant tumor of breast [RCV002281805] Chr16:23614482..23614991 [GRCh37]
Chr16:16p12.2		 likely pathogenic
NM_024675.4(PALB2):c.2949C>G (p.Thr983=) single nucleotide variant Familial cancer of breast [RCV000921181]|Hereditary cancer-predisposing syndrome [RCV000568585]|PALB2-related disorder [RCV004740333] Chr16:23623016 [GRCh38]
Chr16:23634337 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.1828A>C (p.Thr610Pro) single nucleotide variant Familial cancer of breast [RCV004569129]|Hereditary cancer-predisposing syndrome [RCV000568145] Chr16:23630326 [GRCh38]
Chr16:23641647 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.228_229del (p.Ile76fs) microsatellite Familial cancer of breast [RCV000709750]|Hereditary breast ovarian cancer syndrome [RCV000585929]|Hereditary cancer-predisposing syndrome [RCV003584668]|not provided [RCV003493679] Chr16:23636317..23636318 [GRCh38]
Chr16:23647638..23647639 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic
NM_024675.4(PALB2):c.1192G>A (p.Val398Met) single nucleotide variant Familial cancer of breast [RCV000553689]|Hereditary cancer-predisposing syndrome [RCV000771520]|not provided [RCV001030202] Chr16:23635354 [GRCh38]
Chr16:23646675 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.893T>C (p.Val298Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000568197] Chr16:23635653 [GRCh38]
Chr16:23646974 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2235A>G (p.Lys745=) single nucleotide variant Familial cancer of breast [RCV000636022]|Hereditary cancer-predisposing syndrome [RCV000774632]|not specified [RCV000603362] Chr16:23629919 [GRCh38]
Chr16:23641240 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.3350+4A>C single nucleotide variant Familial cancer of breast [RCV000701534]|Hereditary cancer-predisposing syndrome [RCV000565846] Chr16:23607860 [GRCh38]
Chr16:23619181 [GRCh37]
Chr16:16p12.2		 likely pathogenic|uncertain significance
NM_024675.4(PALB2):c.28A>G (p.Ser10Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003311296] Chr16:23641130 [GRCh38]
Chr16:23652451 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.3240del (p.Glu1081fs) deletion Hereditary cancer-predisposing syndrome [RCV003311298] Chr16:23607974 [GRCh38]
Chr16:23619295 [GRCh37]
Chr16:16p12.2		 likely pathogenic
NM_024675.4(PALB2):c.3445G>T (p.Ala1149Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003311300] Chr16:23603575 [GRCh38]
Chr16:23614896 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1568C>T (p.Ala523Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003311310]|not provided [RCV004765796] Chr16:23634978 [GRCh38]
Chr16:23646299 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2001A>T (p.Glu667Asp) single nucleotide variant Familial cancer of breast [RCV000528052]|Hereditary cancer-predisposing syndrome [RCV001014050] Chr16:23630153 [GRCh38]
Chr16:23641474 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1601C>T (p.Ser534Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000566158]|not provided [RCV001030238] Chr16:23634945 [GRCh38]
Chr16:23646266 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1429A>G (p.Thr477Ala) single nucleotide variant Familial cancer of breast [RCV000550600]|Fanconi anemia complementation group N [RCV005018922] Chr16:23635117 [GRCh38]
Chr16:23646438 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1155A>G (p.Ala385=) single nucleotide variant Familial cancer of breast [RCV002060420]|Hereditary cancer-predisposing syndrome [RCV000566394] Chr16:23635391 [GRCh38]
Chr16:23646712 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.1974A>C (p.Glu658Asp) single nucleotide variant Familial cancer of breast [RCV000551035]|Hereditary cancer-predisposing syndrome [RCV003362833] Chr16:23630180 [GRCh38]
Chr16:23641501 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.621A>G (p.Pro207=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000566509] Chr16:23635925 [GRCh38]
Chr16:23647246 [GRCh37]
Chr16:16p12.2		 likely benign
NM_024675.4(PALB2):c.1470C>G (p.Pro490=) single nucleotide variant Familial cancer of breast [RCV000636033]|Hereditary cancer-predisposing syndrome [RCV000567276] Chr16:23635076 [GRCh38]
Chr16:23646397 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.108+4A>G single nucleotide variant Familial cancer of breast [RCV001247245]|Hereditary cancer-predisposing syndrome [RCV000567444]|not provided [RCV000586750] Chr16:23638066 [GRCh38]
Chr16:23649387 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.514_517del (p.Ser172fs) deletion Familial cancer of breast [RCV000552754]|Hereditary cancer-predisposing syndrome [RCV001189642]|Malignant tumor of breast [RCV001293572] Chr16:23636029..23636032 [GRCh38]
Chr16:23647350..23647353 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.901_907del (p.Asp301fs) deletion Familial cancer of breast [RCV001030187]|Hereditary cancer-predisposing syndrome [RCV000568077]|not provided [RCV000657183] Chr16:23635639..23635645 [GRCh38]
Chr16:23646960..23646966 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic
NM_024675.4(PALB2):c.733G>C (p.Ala245Pro) single nucleotide variant Familial cancer of breast [RCV001065218]|Fanconi anemia complementation group N [RCV000369199]|Hereditary cancer-predisposing syndrome [RCV000312211] Chr16:23635813 [GRCh38]
Chr16:23647134 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1130A>C (p.Gln377Pro) single nucleotide variant Familial cancer of breast [RCV000635851]|Familial cancer of breast [RCV002476263]|Hereditary cancer-predisposing syndrome [RCV000579536]|not specified [RCV001821698] Chr16:23635416 [GRCh38]
Chr16:23646737 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2641G>A (p.Gly881Ser) single nucleotide variant Familial cancer of breast [RCV000549911]|Hereditary cancer-predisposing syndrome [RCV000572967]|Pancreatic cancer, susceptibility to, 3 [RCV001030336]|not provided [RCV004592565]|not specified [RCV005407704] Chr16:23626343 [GRCh38]
Chr16:23637664 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.109C>G (p.Arg37Gly) single nucleotide variant Familial cancer of breast [RCV000550350]|Hereditary cancer-predisposing syndrome [RCV000567015] Chr16:23637952 [GRCh38]
Chr16:23649273 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.851C>T (p.Thr284Ile) single nucleotide variant Familial cancer of breast [RCV000550650]|Hereditary cancer-predisposing syndrome [RCV000575766] Chr16:23635695 [GRCh38]
Chr16:23647016 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2858A>G (p.Asp953Gly) single nucleotide variant Familial cancer of breast [RCV000814534]|Hereditary cancer-predisposing syndrome [RCV000564938]|not provided [RCV003478226] Chr16:23623107 [GRCh38]
Chr16:23634428 [GRCh37]
Chr16:16p12.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.1064del (p.Ser354_Leu355insTer) deletion Familial cancer of breast [RCV003451241]|Hereditary cancer-predisposing syndrome [RCV000564999] Chr16:23635482 [GRCh38]
Chr16:23646803 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.2602T>G (p.Cys868Gly) single nucleotide variant Familial cancer of breast [RCV000549136] Chr16:23626382 [GRCh38]
Chr16:23637703 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2906T>C (p.Val969Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000565275] Chr16:23623059 [GRCh38]
Chr16:23634380 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.432A>G (p.Pro144=) single nucleotide variant Familial cancer of breast [RCV000920342]|Hereditary cancer-predisposing syndrome [RCV000565285] Chr16:23636114 [GRCh38]
Chr16:23647435 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.1133C>T (p.Pro378Leu) single nucleotide variant Familial cancer of breast [RCV000526864]|Hereditary cancer-predisposing syndrome [RCV002448657]|not provided [RCV002293450] Chr16:23635413 [GRCh38]
Chr16:23646734 [GRCh37]
Chr16:16p12.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.-49C>A single nucleotide variant not specified [RCV000606303] Chr16:23641206 [GRCh38]
Chr16:23652527 [GRCh37]
Chr16:16p12.2		 likely benign
NM_024675.4(PALB2):c.2249T>C (p.Val750Ala) single nucleotide variant Familial cancer of breast [RCV001337540]|Hereditary cancer-predisposing syndrome [RCV000582136]|not provided [RCV003237955] Chr16:23629905 [GRCh38]
Chr16:23641226 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2515-7T>G single nucleotide variant Familial cancer of breast [RCV002530804]|Hereditary cancer-predisposing syndrome [RCV000582208] Chr16:23629282 [GRCh38]
Chr16:23640603 [GRCh37]
Chr16:16p12.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.1371A>C (p.Glu457Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000583925] Chr16:23635175 [GRCh38]
Chr16:23646496 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2607dup (p.Val870fs) duplication Familial cancer of breast [RCV000699553]|Hereditary cancer-predisposing syndrome [RCV000583934] Chr16:23626376..23626377 [GRCh38]
Chr16:23637697..23637698 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.1704A>G (p.Gln568=) single nucleotide variant Familial cancer of breast [RCV003607332]|Hereditary cancer-predisposing syndrome [RCV000583986] Chr16:23630450 [GRCh38]
Chr16:23641771 [GRCh37]
Chr16:16p12.2		 likely benign
NM_024675.4(PALB2):c.2996+14T>G single nucleotide variant Familial cancer of breast [RCV002061896]|Fanconi anemia complementation group N [RCV001116751]|Hereditary cancer-predisposing syndrome [RCV000583916]|PALB2-related cancer predisposition [RCV005357760] Chr16:23622955 [GRCh38]
Chr16:23634276 [GRCh37]
Chr16:16p12.2		 likely benign|uncertain significance
NM_024675.4(PALB2):c.1800A>C (p.Leu600Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000579773] Chr16:23630354 [GRCh38]
Chr16:23641675 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.3203G>A (p.Gly1068Glu) single nucleotide variant Familial cancer of breast [RCV000635679]|Hereditary cancer-predisposing syndrome [RCV000579885] Chr16:23608011 [GRCh38]
Chr16:23619332 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1595C>T (p.Pro532Leu) single nucleotide variant Familial cancer of breast [RCV001853886]|Hereditary cancer-predisposing syndrome [RCV000580022]|not provided [RCV001755967] Chr16:23634951 [GRCh38]
Chr16:23646272 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.110G>T (p.Arg37Leu) single nucleotide variant Familial cancer of breast [RCV002529107]|Hereditary cancer-predisposing syndrome [RCV000580072] Chr16:23637951 [GRCh38]
Chr16:23649272 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1765A>G (p.Thr589Ala) single nucleotide variant Familial cancer of breast [RCV000550043]|Hereditary cancer-predisposing syndrome [RCV001013028]|not provided [RCV003478137] Chr16:23630389 [GRCh38]
Chr16:23641710 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.1175A>G (p.Glu392Gly) single nucleotide variant Familial cancer of breast [RCV000807416]|Hereditary cancer-predisposing syndrome [RCV000582248] Chr16:23635371 [GRCh38]
Chr16:23646692 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2877A>G (p.Val959=) single nucleotide variant Familial cancer of breast [RCV001396964]|Hereditary cancer-predisposing syndrome [RCV000582271] Chr16:23623088 [GRCh38]
Chr16:23634409 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.1619dup (p.Asn540fs) duplication Familial cancer of breast [RCV001235208]|Hereditary cancer-predisposing syndrome [RCV000582329] Chr16:23634926..23634927 [GRCh38]
Chr16:23646247..23646248 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.1914del (p.Phe638fs) deletion Familial cancer of breast [RCV001236410]|Hereditary cancer-predisposing syndrome [RCV000582393] Chr16:23630240 [GRCh38]
Chr16:23641561 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.3297G>C (p.Thr1099=) single nucleotide variant Familial cancer of breast [RCV001410494]|Hereditary cancer-predisposing syndrome [RCV000584055]|not provided [RCV000975645] Chr16:23607917 [GRCh38]
Chr16:23619238 [GRCh37]
Chr16:16p12.2		 benign|likely benign|uncertain significance
NM_024675.4(PALB2):c.211+19C>T single nucleotide variant Familial cancer of breast [RCV002061893]|Hereditary cancer-predisposing syndrome [RCV000584004]|not specified [RCV000607662] Chr16:23637831 [GRCh38]
Chr16:23649152 [GRCh37]
Chr16:16p12.2		 likely benign
NM_024675.4(PALB2):c.109-18T>C single nucleotide variant Familial cancer of breast [RCV002530803]|Hereditary cancer-predisposing syndrome [RCV000584110] Chr16:23637970 [GRCh38]
Chr16:23649291 [GRCh37]
Chr16:16p12.2		 likely benign
NM_024675.4(PALB2):c.2437A>C (p.Ile813Leu) single nucleotide variant Familial cancer of breast [RCV000699252]|Hereditary cancer-predisposing syndrome [RCV000584188]|not provided [RCV001567582] Chr16:23629717 [GRCh38]
Chr16:23641038 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.109-12T>A single nucleotide variant Familial cancer of breast [RCV000794723]|Fanconi anemia complementation group N [RCV003133384]|Hereditary cancer-predisposing syndrome [RCV000579887]|PALB2-related cancer predisposition [RCV005357727]|not provided [RCV001030120] Chr16:23637964 [GRCh38]
Chr16:23649285 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic|uncertain significance|no classifications from unflagged records
NM_024675.4(PALB2):c.3379T>C (p.Cys1127Arg) single nucleotide variant Familial cancer of breast [RCV000701458]|Fanconi anemia complementation group N [RCV005019004]|Hereditary breast ovarian cancer syndrome [RCV005367434]|Hereditary cancer-predisposing syndrome [RCV000579960]|Ovarian cancer [RCV003153752]|not provided [RCV001030414] Chr16:23603641 [GRCh38]
Chr16:23614962 [GRCh37]
Chr16:16p12.2		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.676A>G (p.Thr226Ala) single nucleotide variant Familial cancer of breast [RCV001853888]|Hereditary cancer-predisposing syndrome [RCV000580295]|not specified [RCV002248794] Chr16:23635870 [GRCh38]
Chr16:23647191 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1546dup (p.Arg516fs) duplication Familial cancer of breast [RCV001225187]|Hereditary cancer-predisposing syndrome [RCV000582395] Chr16:23634999..23635000 [GRCh38]
Chr16:23646320..23646321 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.2961A>G (p.Gln987=) single nucleotide variant Familial cancer of breast [RCV000989553]|Hereditary cancer-predisposing syndrome [RCV000582550] Chr16:23623004 [GRCh38]
Chr16:23634325 [GRCh37]
Chr16:16p12.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_024675.4(PALB2):c.1276dup (p.Glu426fs) duplication Hereditary cancer-predisposing syndrome [RCV000582558] Chr16:23635269..23635270 [GRCh38]
Chr16:23646590..23646591 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.2563C>G (p.Leu855Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000582572] Chr16:23629227 [GRCh38]
Chr16:23640548 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1206T>C (p.Leu402=) single nucleotide variant Familial cancer of breast [RCV005427102]|Hereditary cancer-predisposing syndrome [RCV000584330] Chr16:23635340 [GRCh38]
Chr16:23646661 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.1538C>T (p.Thr513Ile) single nucleotide variant Familial cancer of breast [RCV000635783]|Hereditary cancer-predisposing syndrome [RCV000580586]|not provided [RCV001030236] Chr16:23635008 [GRCh38]
Chr16:23646329 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.2905G>A (p.Val969Met) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000580616] Chr16:23623060 [GRCh38]
Chr16:23634381 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2236G>A (p.Ala746Thr) single nucleotide variant Familial cancer of breast [RCV001373028]|Hereditary cancer-predisposing syndrome [RCV000580654] Chr16:23629918 [GRCh38]
Chr16:23641239 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.97G>A (p.Ala33Thr) single nucleotide variant Familial cancer of breast [RCV002530755]|Hereditary cancer-predisposing syndrome [RCV000580732] Chr16:23638081 [GRCh38]
Chr16:23649402 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.3273G>C (p.Gln1091His) single nucleotide variant Familial cancer of breast [RCV001853934]|Hereditary cancer-predisposing syndrome [RCV000582608] Chr16:23607941 [GRCh38]
Chr16:23619262 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2587-10A>T single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000582482] Chr16:23626407 [GRCh38]
Chr16:23637728 [GRCh37]
Chr16:16p12.2		 likely benign
NM_024675.4(PALB2):c.2047C>T (p.His683Tyr) single nucleotide variant Familial cancer of breast [RCV000805561]|Hereditary cancer-predisposing syndrome [RCV000582645] Chr16:23630107 [GRCh38]
Chr16:23641428 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2415C>T (p.Val805=) single nucleotide variant Familial cancer of breast [RCV002529273]|Hereditary cancer-predisposing syndrome [RCV000582689] Chr16:23629739 [GRCh38]
Chr16:23641060 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.1685-7T>G single nucleotide variant Familial cancer of breast [RCV000663169]|Hereditary cancer-predisposing syndrome [RCV000582581]|not specified [RCV004767419] Chr16:23630476 [GRCh38]
Chr16:23641797 [GRCh37]
Chr16:16p12.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.1041A>G (p.Glu347=) single nucleotide variant Familial cancer of breast [RCV005422780]|Hereditary cancer-predisposing syndrome [RCV000582730] Chr16:23635505 [GRCh38]
Chr16:23646826 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.2748+15C>T single nucleotide variant Familial cancer of breast [RCV002061894]|Hereditary cancer-predisposing syndrome [RCV000584236]|Malignant tumor of breast [RCV001355879]|not provided [RCV001597179] Chr16:23626221 [GRCh38]
Chr16:23637542 [GRCh37]
Chr16:16p12.2		 benign|likely benign|uncertain significance
NM_024675.4(PALB2):c.3226C>T (p.His1076Tyr) single nucleotide variant Familial cancer of breast [RCV001860094]|Hereditary cancer-predisposing syndrome [RCV000584241]|not provided [RCV000586520] Chr16:23607988 [GRCh38]
Chr16:23619309 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1148T>C (p.Leu383Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000584423] Chr16:23635398 [GRCh38]
Chr16:23646719 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.546del (p.Ser183fs) deletion Hereditary cancer-predisposing syndrome [RCV000584485] Chr16:23636000 [GRCh38]
Chr16:23647321 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.1004A>G (p.Asn335Ser) single nucleotide variant Familial cancer of breast [RCV000554257]|Hereditary cancer-predisposing syndrome [RCV000777235]|not provided [RCV004719858] Chr16:23635542 [GRCh38]
Chr16:23646863 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.1620C>T (p.Asn540=) single nucleotide variant Familial cancer of breast [RCV002526792]|Hereditary cancer-predisposing syndrome [RCV000568574] Chr16:23634926 [GRCh38]
Chr16:23646247 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.1965T>C (p.Phe655=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000566541] Chr16:23630189 [GRCh38]
Chr16:23641510 [GRCh37]
Chr16:16p12.2		 likely benign
NM_024675.4(PALB2):c.3500C>G (p.Thr1167Arg) single nucleotide variant Familial cancer of breast [RCV001860052]|Hereditary cancer-predisposing syndrome [RCV000580938] Chr16:23603520 [GRCh38]
Chr16:23614841 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1684+11A>G single nucleotide variant Familial cancer of breast [RCV001860051]|Fanconi anemia complementation group N [RCV001121720]|Hereditary cancer-predisposing syndrome [RCV000580824] Chr16:23634851 [GRCh38]
Chr16:23646172 [GRCh37]
Chr16:16p12.2		 likely benign|uncertain significance
NM_024675.4(PALB2):c.2817G>C (p.Leu939Phe) single nucleotide variant Familial cancer of breast [RCV003607325]|Hereditary cancer-predisposing syndrome [RCV000580854] Chr16:23624026 [GRCh38]
Chr16:23635347 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1940A>T (p.His647Leu) single nucleotide variant Familial cancer of breast [RCV000695699]|Hereditary cancer-predisposing syndrome [RCV000582747]|not provided [RCV001755976]|not specified [RCV002282244] Chr16:23630214 [GRCh38]
Chr16:23641535 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.108+12G>A single nucleotide variant Familial cancer of breast [RCV002065103]|Hereditary cancer-predisposing syndrome [RCV000582676]|not specified [RCV000616557] Chr16:23638058 [GRCh38]
Chr16:23649379 [GRCh37]
Chr16:16p12.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_024675.4(PALB2):c.3231C>T (p.Pro1077=) single nucleotide variant Familial cancer of breast [RCV001418183]|Hereditary cancer-predisposing syndrome [RCV000582683] Chr16:23607983 [GRCh38]
Chr16:23619304 [GRCh37]
Chr16:16p12.2		 likely benign
NM_024675.4(PALB2):c.1413A>G (p.Gly471=) single nucleotide variant Familial cancer of breast [RCV005427103]|Hereditary cancer-predisposing syndrome [RCV000582788] Chr16:23635133 [GRCh38]
Chr16:23646454 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.1004A>T (p.Asn335Ile) single nucleotide variant Familial cancer of breast [RCV000808097]|Hereditary cancer-predisposing syndrome [RCV000582813]|not provided [RCV001755975] Chr16:23635542 [GRCh38]
Chr16:23646863 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2673C>A (p.Cys891Ter) single nucleotide variant Familial cancer of breast [RCV002529275]|Hereditary cancer-predisposing syndrome [RCV000582849] Chr16:23626311 [GRCh38]
Chr16:23637632 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.1368G>A (p.Glu456=) single nucleotide variant Familial cancer of breast [RCV001058296]|Hereditary cancer-predisposing syndrome [RCV000582872] Chr16:23635178 [GRCh38]
Chr16:23646499 [GRCh37]
Chr16:16p12.2		 benign|likely benign|uncertain significance
NM_024675.4(PALB2):c.212-18C>T single nucleotide variant Familial cancer of breast [RCV002529272]|Hereditary cancer-predisposing syndrome [RCV000584371] Chr16:23636352 [GRCh38]
Chr16:23647673 [GRCh37]
Chr16:16p12.2		 likely benign
NM_024675.4(PALB2):c.1112A>T (p.Glu371Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000584501] Chr16:23635434 [GRCh38]
Chr16:23646755 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.3067C>T (p.Gln1023Ter) single nucleotide variant Familial cancer of breast [RCV000803999]|Hereditary breast ovarian cancer syndrome [RCV001269180]|Hereditary cancer-predisposing syndrome [RCV000584638] Chr16:23621408 [GRCh38]
Chr16:23632729 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic
NM_024675.4(PALB2):c.1857T>C (p.Phe619=) single nucleotide variant Familial cancer of breast [RCV003607333]|Hereditary cancer-predisposing syndrome [RCV001525793]|not specified [RCV000588740] Chr16:23630297 [GRCh38]
Chr16:23641618 [GRCh37]
Chr16:16p12.2		 benign|likely benign|uncertain significance
NM_024675.4(PALB2):c.2920A>G (p.Lys974Glu) single nucleotide variant Familial cancer of breast [RCV000817606]|Familial cancer of breast [RCV002491131]|Hereditary cancer-predisposing syndrome [RCV000568691]|not provided [RCV003128630] Chr16:23623045 [GRCh38]
Chr16:23634366 [GRCh37]
Chr16:16p12.2		 likely benign|uncertain significance
NM_024675.4(PALB2):c.48+6G>A single nucleotide variant Familial cancer of breast [RCV000532373] Chr16:23641104 [GRCh38]
Chr16:23652425 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.133A>C (p.Lys45Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000568945] Chr16:23637928 [GRCh38]
Chr16:23649249 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1772C>A (p.Pro591Gln) single nucleotide variant Familial cancer of breast [RCV000809631]|Hereditary cancer-predisposing syndrome [RCV000581038] Chr16:23630382 [GRCh38]
Chr16:23641703 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.3107T>C (p.Val1036Ala) single nucleotide variant Familial cancer of breast [RCV000635728]|Hereditary cancer-predisposing syndrome [RCV000581074]|not specified [RCV001824836] Chr16:23621368 [GRCh38]
Chr16:23632689 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.29_30delinsTT indel Hereditary cancer-predisposing syndrome [RCV000581179] Chr16:23641128..23641129 [GRCh38]
Chr16:23652449..23652450 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1140_1143del (p.Ser380fs) deletion Breast-ovarian cancer, familial, susceptibility to, 5 [RCV005367439]|Familial cancer of breast [RCV000635928]|Familial cancer of breast [RCV002476266]|Hereditary cancer-predisposing syndrome [RCV000582948]|not provided [RCV001030201]|not specified [RCV001800805] Chr16:23635403..23635406 [GRCh38]
Chr16:23646724..23646727 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.2796G>A (p.Val932=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000583029] Chr16:23624047 [GRCh38]
Chr16:23635368 [GRCh37]
Chr16:16p12.2		 likely benign
NM_024675.4(PALB2):c.3350+2C>G single nucleotide variant Familial cancer of breast [RCV001361268]|Hereditary cancer-predisposing syndrome [RCV000582943] Chr16:23607862 [GRCh38]
Chr16:23619183 [GRCh37]
Chr16:16p12.2		 likely pathogenic|uncertain significance
NM_024675.4(PALB2):c.2466G>T (p.Gln822His) single nucleotide variant Familial cancer of breast [RCV000805353]|Hereditary cancer-predisposing syndrome [RCV000583057]|not specified [RCV002248800] Chr16:23629688 [GRCh38]
Chr16:23641009 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.338C>T (p.Pro113Leu) single nucleotide variant Familial cancer of breast [RCV003159984]|Hereditary cancer-predisposing syndrome [RCV000584695] Chr16:23636208 [GRCh38]
Chr16:23647529 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_001407299.1(PALB2):c.3113+7271del deletion Familial cancer of breast [RCV000816456] Chr16:23614091 [GRCh38]
Chr16:23625412 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.3228del (p.Cys1078fs) deletion Familial cancer of breast [RCV003451308]|Hereditary cancer-predisposing syndrome [RCV000581225] Chr16:23607986 [GRCh38]
Chr16:23619307 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.2847T>C (p.Cys949=) single nucleotide variant Familial cancer of breast [RCV000869694]|Hereditary cancer-predisposing syndrome [RCV000581254] Chr16:23623118 [GRCh38]
Chr16:23634439 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.1940A>G (p.His647Arg) single nucleotide variant Familial cancer of breast [RCV001853932]|Hereditary cancer-predisposing syndrome [RCV000581258] Chr16:23630214 [GRCh38]
Chr16:23641535 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.3166C>T (p.Gln1056Ter) single nucleotide variant Familial cancer of breast [RCV001038568]|Gastric cancer [RCV003159983]|Hereditary cancer-predisposing syndrome [RCV000581301]|not provided [RCV005256644] Chr16:23614039 [GRCh38]
Chr16:23625360 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.48+5C>T single nucleotide variant Familial cancer of breast [RCV001246045]|Hereditary cancer-predisposing syndrome [RCV000583006]|PALB2-related disorder [RCV004543293] Chr16:23641105 [GRCh38]
Chr16:23652426 [GRCh37]
Chr16:16p12.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.476A>G (p.Glu159Gly) single nucleotide variant Familial cancer of breast [RCV001034983]|Hereditary cancer-predisposing syndrome [RCV000583113]|not specified [RCV000781697] Chr16:23636070 [GRCh38]
Chr16:23647391 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1437_1438del (p.Lys480fs) deletion Familial cancer of breast [RCV002529271]|Hereditary cancer-predisposing syndrome [RCV000583187] Chr16:23635108..23635109 [GRCh38]
Chr16:23646429..23646430 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic
NM_024675.4(PALB2):c.1811T>C (p.Leu604Pro) single nucleotide variant Familial cancer of breast [RCV000555346] Chr16:23630343 [GRCh38]
Chr16:23641664 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.759A>G (p.Leu253=) single nucleotide variant Familial cancer of breast [RCV000555349]|Hereditary cancer-predisposing syndrome [RCV000774641] Chr16:23635787 [GRCh38]
Chr16:23647108 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.3553T>G (p.Tyr1185Asp) single nucleotide variant Familial cancer of breast [RCV000635895]|Hereditary cancer-predisposing syndrome [RCV002456292]|not specified [RCV000590060] Chr16:23603467 [GRCh38]
Chr16:23614788 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2606C>A (p.Ser869Tyr) single nucleotide variant Familial cancer of breast [RCV001216427]|Hereditary cancer-predisposing syndrome [RCV000567216] Chr16:23626378 [GRCh38]
Chr16:23637699 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1518A>G (p.Gln506=) single nucleotide variant Familial cancer of breast [RCV000552151]|Hereditary cancer-predisposing syndrome [RCV002395343] Chr16:23635028 [GRCh38]
Chr16:23646349 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.1032_1033dup (p.Leu345fs) duplication Familial cancer of breast [RCV000709749]|Hereditary cancer-predisposing syndrome [RCV000581296]|not provided [RCV003328606] Chr16:23635512..23635513 [GRCh38]
Chr16:23646833..23646834 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.2298A>G (p.Ser766=) single nucleotide variant Familial cancer of breast [RCV001464845]|Hereditary cancer-predisposing syndrome [RCV000581427] Chr16:23629856 [GRCh38]
Chr16:23641177 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.1800A>G (p.Leu600=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000583241] Chr16:23630354 [GRCh38]
Chr16:23641675 [GRCh37]
Chr16:16p12.2		 likely benign
NM_024675.4(PALB2):c.303T>G (p.Asp101Glu) single nucleotide variant Fanconi anemia complementation group N [RCV003133386]|Fanconi anemia complementation group N [RCV005019008]|Hereditary cancer-predisposing syndrome [RCV000583166]|not specified [RCV001800806] Chr16:23636243 [GRCh38]
Chr16:23647564 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1500T>G (p.Ser500=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000583094] Chr16:23635046 [GRCh38]
Chr16:23646367 [GRCh37]
Chr16:16p12.2		 likely benign
NM_024675.4(PALB2):c.1059A>G (p.Lys353=) single nucleotide variant Familial cancer of breast [RCV005427142]|not specified [RCV000604323] Chr16:23635487 [GRCh38]
Chr16:23646808 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.-1G>T single nucleotide variant not provided [RCV000590615] Chr16:23641158 [GRCh38]
Chr16:23652479 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1227T>C (p.Tyr409=) single nucleotide variant Familial cancer of breast [RCV001451262]|Hereditary cancer-predisposing syndrome [RCV000581501]|not provided [RCV000759892]|not specified [RCV000600139] Chr16:23635319 [GRCh38]
Chr16:23646640 [GRCh37]
Chr16:16p12.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.2949C>T (p.Thr983=) single nucleotide variant Familial cancer of breast [RCV002061895]|Hereditary cancer-predisposing syndrome [RCV000581503] Chr16:23623016 [GRCh38]
Chr16:23634337 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.3113+17G>T single nucleotide variant Familial cancer of breast [RCV001853933]|Hereditary cancer-predisposing syndrome [RCV000581411]|not specified [RCV000609993] Chr16:23621345 [GRCh38]
Chr16:23632666 [GRCh37]
Chr16:16p12.2		 likely benign|conflicting interpretations of pathogenicity
NM_024675.4(PALB2):c.1301A>C (p.Asp434Ala) single nucleotide variant Familial cancer of breast [RCV001345251]|Hereditary cancer-predisposing syndrome [RCV000581417] Chr16:23635245 [GRCh38]
Chr16:23646566 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.2835-15T>G single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000583396] Chr16:23623145 [GRCh38]
Chr16:23634466 [GRCh37]
Chr16:16p12.2		 likely benign
NM_024675.4(PALB2):c.2464C>T (p.Gln822Ter) single nucleotide variant Familial cancer of breast [RCV003451307]|Hereditary cancer-predisposing syndrome [RCV000581596]|not provided [RCV002268211] Chr16:23629690 [GRCh38]
Chr16:23641011 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.1685-20G>A single nucleotide variant Familial cancer of breast [RCV002061892]|Hereditary cancer-predisposing syndrome [RCV000581547] Chr16:23630489 [GRCh38]
Chr16:23641810 [GRCh37]
Chr16:16p12.2		 likely benign
NM_024675.4(PALB2):c.2556A>G (p.Pro852=) single nucleotide variant Familial cancer of breast [RCV001429565]|Hereditary cancer-predisposing syndrome [RCV000581550] Chr16:23629234 [GRCh38]
Chr16:23640555 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.1468C>T (p.Pro490Ser) single nucleotide variant Familial cancer of breast [RCV001030232]|Hereditary cancer-predisposing syndrome [RCV000581576] Chr16:23635078 [GRCh38]
Chr16:23646399 [GRCh37]
Chr16:16p12.2		 likely benign|uncertain significance
NM_024675.4(PALB2):c.1435C>A (p.Gln479Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000581702] Chr16:23635111 [GRCh38]
Chr16:23646432 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.36G>C (p.Glu12Asp) single nucleotide variant Familial cancer of breast [RCV001308779]|Hereditary cancer-predisposing syndrome [RCV000581707] Chr16:23641122 [GRCh38]
Chr16:23652443 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.-10C>T single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000583508]|PALB2-related cancer predisposition [RCV005357758]|not provided [RCV001712601] Chr16:23641167 [GRCh38]
Chr16:23652488 [GRCh37]
Chr16:16p12.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_024675.4(PALB2):c.1012C>G (p.Pro338Ala) single nucleotide variant Familial cancer of breast [RCV000805488]|Hereditary cancer-predisposing syndrome [RCV000583434] Chr16:23635534 [GRCh38]
Chr16:23646855 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.3155A>T (p.Asp1052Val) single nucleotide variant Familial cancer of breast [RCV000821809]|Hereditary cancer-predisposing syndrome [RCV000583445] Chr16:23614050 [GRCh38]
Chr16:23625371 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.3324C>A (p.Tyr1108Ter) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003362812]|not provided [RCV000523756] Chr16:23607890 [GRCh38]
Chr16:23619211 [GRCh37]
Chr16:16p12.2		 likely pathogenic
NM_024675.4(PALB2):c.3116A>C (p.Asn1039Thr) single nucleotide variant Familial cancer of breast [RCV003766947]|not provided [RCV000523781] Chr16:23614089 [GRCh38]
Chr16:23625410 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2715G>A (p.Gln905=) single nucleotide variant Familial cancer of breast [RCV000635990]|Hereditary cancer-predisposing syndrome [RCV000581737]|not specified [RCV003117354] Chr16:23626269 [GRCh38]
Chr16:23637590 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.2749-1G>T single nucleotide variant Familial cancer of breast [RCV000824261]|Hereditary cancer-predisposing syndrome [RCV000581632] Chr16:23624095 [GRCh38]
Chr16:23635416 [GRCh37]
Chr16:16p12.2		 likely pathogenic
NM_024675.4(PALB2):c.987A>G (p.Leu329=) single nucleotide variant Familial cancer of breast [RCV002065104]|Hereditary cancer-predisposing syndrome [RCV000581755] Chr16:23635559 [GRCh38]
Chr16:23646880 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.1401C>T (p.Gly467=) single nucleotide variant Familial cancer of breast [RCV000698902]|Hereditary cancer-predisposing syndrome [RCV000581781] Chr16:23635145 [GRCh38]
Chr16:23646466 [GRCh37]
Chr16:16p12.2		 benign|likely benign|uncertain significance
NM_024675.4(PALB2):c.262C>T (p.Leu88Phe) single nucleotide variant Familial cancer of breast [RCV001215064]|Hereditary cancer-predisposing syndrome [RCV000581810] Chr16:23636284 [GRCh38]
Chr16:23647605 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.667del (p.Ile223fs) deletion Hereditary cancer-predisposing syndrome [RCV000583625] Chr16:23635879 [GRCh38]
Chr16:23647200 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.2257_2259del (p.Arg753del) deletion Hereditary cancer-predisposing syndrome [RCV000583634] Chr16:23629895..23629897 [GRCh38]
Chr16:23641216..23641218 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.337C>G (p.Pro113Ala) single nucleotide variant Familial cancer of breast [RCV000635912]|Hereditary cancer-predisposing syndrome [RCV000583654]|not provided [RCV001779019]|not specified [RCV000781694] Chr16:23636209 [GRCh38]
Chr16:23647530 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2517T>G (p.Thr839=) single nucleotide variant Familial cancer of breast [RCV005427104]|Hereditary cancer-predisposing syndrome [RCV000583662] Chr16:23629273 [GRCh38]
Chr16:23640594 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.2586+11T>C single nucleotide variant Familial cancer of breast [RCV002529274]|Hereditary cancer-predisposing syndrome [RCV000583590] Chr16:23629193 [GRCh38]
Chr16:23640514 [GRCh37]
Chr16:16p12.2		 likely benign
NM_024675.4(PALB2):c.594C>T (p.His198=) single nucleotide variant Familial cancer of breast [RCV002061897]|Hereditary cancer-predisposing syndrome [RCV000583703] Chr16:23635952 [GRCh38]
Chr16:23647273 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.1190_1191del (p.Thr397fs) microsatellite Hereditary cancer-predisposing syndrome [RCV000583714] Chr16:23635355..23635356 [GRCh38]
Chr16:23646676..23646677 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.3439T>C (p.Cys1147Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000569188] Chr16:23603581 [GRCh38]
Chr16:23614902 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1843C>G (p.Pro615Ala) single nucleotide variant Familial cancer of breast [RCV001339383]|Hereditary cancer-predisposing syndrome [RCV000569198]|not provided [RCV001284028] Chr16:23630311 [GRCh38]
Chr16:23641632 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2514+10A>G single nucleotide variant Familial cancer of breast [RCV001399807]|Hereditary cancer-predisposing syndrome [RCV000583772]|not specified [RCV002248801] Chr16:23629630 [GRCh38]
Chr16:23640951 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.2898A>T (p.Ile966=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000583719] Chr16:23623067 [GRCh38]
Chr16:23634388 [GRCh37]
Chr16:16p12.2		 likely benign
NM_024675.4(PALB2):c.363A>G (p.Thr121=) single nucleotide variant Familial cancer of breast [RCV001088396]|Hereditary cancer-predisposing syndrome [RCV000583847]|not provided [RCV000967620] Chr16:23636183 [GRCh38]
Chr16:23647504 [GRCh37]
Chr16:16p12.2		 benign|likely benign|uncertain significance
NM_024675.4(PALB2):c.211+1G>A single nucleotide variant Breast-ovarian cancer, familial, susceptibility to, 5 [RCV005357759]|Familial cancer of breast [RCV000989582]|Hereditary cancer-predisposing syndrome [RCV000581906]|not provided [RCV002466544] Chr16:23637849 [GRCh38]
Chr16:23649170 [GRCh37]
Chr16:16p12.2		 likely pathogenic
NM_024675.4(PALB2):c.109-7C>T single nucleotide variant Familial cancer of breast [RCV001438248]|Hereditary cancer-predisposing syndrome [RCV000581970] Chr16:23637959 [GRCh38]
Chr16:23649280 [GRCh37]
Chr16:16p12.2		 likely benign
NM_024675.4(PALB2):c.48+20G>A single nucleotide variant Familial cancer of breast [RCV001860095]|Hereditary cancer-predisposing syndrome [RCV000581991] Chr16:23641090 [GRCh38]
Chr16:23652411 [GRCh37]
Chr16:16p12.2		 likely benign
NM_024675.4(PALB2):c.1843C>A (p.Pro615Thr) single nucleotide variant Familial cancer of breast [RCV000800019]|Hereditary cancer-predisposing syndrome [RCV000582084] Chr16:23630311 [GRCh38]
Chr16:23641632 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.3427C>G (p.Leu1143Val) single nucleotide variant Familial cancer of breast [RCV000806205]|Hereditary cancer-predisposing syndrome [RCV002332648] Chr16:23603593 [GRCh38]
Chr16:23614914 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1883A>C (p.Lys628Thr) single nucleotide variant Familial cancer of breast [RCV000706639]|Hereditary cancer-predisposing syndrome [RCV000570203]|not provided [RCV001584379]|not specified [RCV004800473] Chr16:23630271 [GRCh38]
Chr16:23641592 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.615A>G (p.Glu205=) single nucleotide variant Familial cancer of breast [RCV000559401]|Fanconi anemia complementation group N [RCV005398793]|Hereditary cancer-predisposing syndrome [RCV000581161] Chr16:23635931 [GRCh38]
Chr16:23647252 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.2194_2200del (p.Gly732fs) deletion Familial cancer of breast [RCV003451271]|Hereditary cancer-predisposing syndrome [RCV000571878] Chr16:23629954..23629960 [GRCh38]
Chr16:23641275..23641281 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.1494C>T (p.Asp498=) single nucleotide variant Familial cancer of breast [RCV005427027]|Hereditary cancer-predisposing syndrome [RCV000571892] Chr16:23635052 [GRCh38]
Chr16:23646373 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.1972del (p.Glu658fs) deletion Familial cancer of breast [RCV001858207]|Gastric cancer [RCV003159963]|Hereditary cancer-predisposing syndrome [RCV000571927] Chr16:23630182 [GRCh38]
Chr16:23641503 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.3201+20G>T single nucleotide variant Familial cancer of breast [RCV000410732]|not specified [RCV000434620] Chr16:23613984 [GRCh38]
Chr16:23625305 [GRCh37]
Chr16:16p12.2		 likely benign|conflicting interpretations of pathogenicity
NM_024675.4(PALB2):c.2576C>A (p.Ser859Ter) single nucleotide variant Familial cancer of breast [RCV000410429]|Hereditary cancer-predisposing syndrome [RCV000454290] Chr16:23629214 [GRCh38]
Chr16:23640535 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic
NM_024675.4(PALB2):c.2748+13C>G single nucleotide variant Familial cancer of breast [RCV000411264]|Hereditary cancer-predisposing syndrome [RCV000580542]|not specified [RCV000417961] Chr16:23626223 [GRCh38]
Chr16:23637544 [GRCh37]
Chr16:16p12.2		 likely benign
NM_024675.4(PALB2):c.3256del (p.Arg1086fs) deletion Familial cancer of breast [RCV000410678]|Hereditary cancer-predisposing syndrome [RCV000565546]|not provided [RCV004760484] Chr16:23607958 [GRCh38]
Chr16:23619279 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic
NM_024675.4(PALB2):c.3G>A (p.Met1Ile) single nucleotide variant Breast-ovarian cancer, familial, susceptibility to, 5 [RCV004698787]|Familial cancer of breast [RCV000410696]|Hereditary cancer-predisposing syndrome [RCV000567207]|not provided [RCV000505935] Chr16:23641155 [GRCh38]
Chr16:23652476 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic
NM_024675.4(PALB2):c.3351-5A>G single nucleotide variant Familial cancer of breast [RCV000930568]|Hereditary cancer-predisposing syndrome [RCV000570221]|not provided [RCV001696960] Chr16:23603674 [GRCh38]
Chr16:23614995 [GRCh37]
Chr16:16p12.2		 likely benign
NM_024675.4(PALB2):c.2160_2161insG (p.Thr721fs) insertion Familial cancer of breast [RCV003451273]|Hereditary cancer-predisposing syndrome [RCV000570259] Chr16:23629993..23629994 [GRCh38]
Chr16:23641314..23641315 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.3432_3433delinsAT (p.Gly1145Cys) indel Familial cancer of breast [RCV000635629]|Hereditary cancer-predisposing syndrome [RCV000570300] Chr16:23603587..23603588 [GRCh38]
Chr16:23614908..23614909 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.623A>T (p.Asp208Val) single nucleotide variant Familial cancer of breast [RCV000635613]|Hereditary cancer-predisposing syndrome [RCV000571974]|not provided [RCV001726249] Chr16:23635923 [GRCh38]
Chr16:23647244 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.437GAA[1] (p.Arg147del) microsatellite Familial cancer of breast [RCV000410910]|Hereditary cancer-predisposing syndrome [RCV000569782]|not provided [RCV000482861] Chr16:23636104..23636106 [GRCh38]
Chr16:23647425..23647427 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1139G>A (p.Ser380Asn) single nucleotide variant Familial cancer of breast [RCV000534767]|Hereditary cancer-predisposing syndrome [RCV001189378] Chr16:23635407 [GRCh38]
Chr16:23646728 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1214C>G (p.Pro405Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000572154]|not provided [RCV001030204] Chr16:23635332 [GRCh38]
Chr16:23646653 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2357A>G (p.His786Arg) single nucleotide variant Familial cancer of breast [RCV000539995]|Hereditary cancer-predisposing syndrome [RCV000774631]|not provided [RCV005000154] Chr16:23629797 [GRCh38]
Chr16:23641118 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1507G>C (p.Ala503Pro) single nucleotide variant Familial cancer of breast [RCV000540105]|Hereditary cancer-predisposing syndrome [RCV000579884]|not provided [RCV001755821] Chr16:23635039 [GRCh38]
Chr16:23646360 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.1684+10G>T single nucleotide variant Familial cancer of breast [RCV000411082] Chr16:23634852 [GRCh38]
Chr16:23646173 [GRCh37]
Chr16:16p12.2		 likely benign
NM_024675.4(PALB2):c.1838del (p.Gln613fs) deletion Familial cancer of breast [RCV000411169]|Hereditary cancer-predisposing syndrome [RCV002411276] Chr16:23630316 [GRCh38]
Chr16:23641637 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic
NM_024675.4(PALB2):c.1653del (p.Gln552fs) deletion Familial cancer of breast [RCV003451260]|Hereditary cancer-predisposing syndrome [RCV000570673] Chr16:23634893 [GRCh38]
Chr16:23646214 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.844_847del (p.Arg282fs) deletion Familial cancer of breast [RCV001221268]|Hereditary cancer-predisposing syndrome [RCV000573235]|Malignant tumor of breast [RCV004701661]|not provided [RCV000657358] Chr16:23635699..23635702 [GRCh38]
Chr16:23647020..23647023 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic
NM_024675.4(PALB2):c.1869G>A (p.Lys623=) single nucleotide variant Familial cancer of breast [RCV000539532]|Hereditary cancer-predisposing syndrome [RCV000583471] Chr16:23630285 [GRCh38]
Chr16:23641606 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.485G>A (p.Cys162Tyr) single nucleotide variant Familial cancer of breast [RCV000540257] Chr16:23636061 [GRCh38]
Chr16:23647382 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.3404G>C (p.Gly1135Ala) single nucleotide variant Familial cancer of breast [RCV004569236]|Hereditary cancer-predisposing syndrome [RCV000574784]|not provided [RCV004696950] Chr16:23603616 [GRCh38]
Chr16:23614937 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.3351-10A>G single nucleotide variant Familial cancer of breast [RCV000411335]|not provided [RCV001796024] Chr16:23603679 [GRCh38]
Chr16:23615000 [GRCh37]
Chr16:16p12.2		 likely benign
NM_024675.4(PALB2):c.2628T>C (p.Phe876=) single nucleotide variant Familial cancer of breast [RCV000537832]|Hereditary cancer-predisposing syndrome [RCV001186967] Chr16:23626356 [GRCh38]
Chr16:23637677 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.132T>G (p.Ile44Met) single nucleotide variant Familial cancer of breast [RCV000560340]|Hereditary cancer-predisposing syndrome [RCV000580130]|not specified [RCV000590410] Chr16:23637929 [GRCh38]
Chr16:23649250 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1530A>C (p.Arg510Ser) single nucleotide variant Familial cancer of breast [RCV001215642]|Familial cancer of breast [RCV002476240]|Hereditary cancer-predisposing syndrome [RCV000572434] Chr16:23635016 [GRCh38]
Chr16:23646337 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1661A>G (p.Glu554Gly) single nucleotide variant Familial cancer of breast [RCV000560464] Chr16:23634885 [GRCh38]
Chr16:23646206 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2915del (p.Leu972fs) deletion Familial cancer of breast [RCV000539206]|Hereditary cancer-predisposing syndrome [RCV002438336] Chr16:23623050 [GRCh38]
Chr16:23634371 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.938G>T (p.Gly313Val) single nucleotide variant Familial cancer of breast [RCV003607313]|Hereditary cancer-predisposing syndrome [RCV000573571] Chr16:23635608 [GRCh38]
Chr16:23646929 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.111T>C (p.Arg37=) single nucleotide variant Familial cancer of breast [RCV000635973]|Hereditary cancer-predisposing syndrome [RCV000574002] Chr16:23637950 [GRCh38]
Chr16:23649271 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.1327A>T (p.Lys443Ter) single nucleotide variant Familial cancer of breast [RCV000814465]|Hereditary cancer-predisposing syndrome [RCV000574863] Chr16:23635219 [GRCh38]
Chr16:23646540 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.2995G>A (p.Gly999Arg) single nucleotide variant Familial cancer of breast [RCV002528151]|Hereditary cancer-predisposing syndrome [RCV000569420] Chr16:23622970 [GRCh38]
Chr16:23634291 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2219_2220del (p.Gln740fs) deletion Familial cancer of breast [RCV001388884]|Hereditary cancer-predisposing syndrome [RCV000570851]|not provided [RCV005000319] Chr16:23629934..23629935 [GRCh38]
Chr16:23641255..23641256 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.2513A>G (p.Gln838Arg) single nucleotide variant Familial cancer of breast [RCV000703973]|Hereditary cancer-predisposing syndrome [RCV000572503]|not provided [RCV004592702] Chr16:23629641 [GRCh38]
Chr16:23640962 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.3302T>G (p.Leu1101Arg) single nucleotide variant Familial cancer of breast [RCV000560521] Chr16:23607912 [GRCh38]
Chr16:23619233 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.3317T>C (p.Met1106Thr) single nucleotide variant Familial cancer of breast [RCV000538048]|Hereditary cancer-predisposing syndrome [RCV001190818]|not provided [RCV001541422] Chr16:23607897 [GRCh38]
Chr16:23619218 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2734T>G (p.Trp912Gly) single nucleotide variant Familial cancer of breast [RCV003219178]|not specified [RCV003321982] Chr16:23626250 [GRCh38]
Chr16:23637571 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.3375T>C (p.Asp1125=) single nucleotide variant Familial cancer of breast [RCV005422209]|Hereditary cancer-predisposing syndrome [RCV000574150] Chr16:23603645 [GRCh38]
Chr16:23614966 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.724T>G (p.Phe242Val) single nucleotide variant Familial cancer of breast [RCV000538178]|Hereditary cancer-predisposing syndrome [RCV001026201] Chr16:23635822 [GRCh38]
Chr16:23647143 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2821A>G (p.Ile941Val) single nucleotide variant Familial cancer of breast [RCV000534984]|Fanconi anemia complementation group N [RCV005004225]|Hereditary cancer-predisposing syndrome [RCV000572648]|not provided [RCV000759902] Chr16:23624022 [GRCh38]
Chr16:23635343 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.3425del (p.Leu1142fs) deletion Breast-ovarian cancer, familial, susceptibility to, 5 [RCV003315424]|Familial cancer of breast [RCV000412323]|Hereditary cancer-predisposing syndrome [RCV002450948] Chr16:23603595 [GRCh38]
Chr16:23614916 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic
NM_024675.4(PALB2):c.43G>A (p.Glu15Lys) single nucleotide variant Familial cancer of breast [RCV000635761]|Hereditary cancer-predisposing syndrome [RCV000571125]|not provided [RCV004800469] Chr16:23641115 [GRCh38]
Chr16:23652436 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NC_000016.10:g.(?_23603453)_(23614097_?)del deletion Familial cancer of breast [RCV000541898] Chr16:23603453..23614097 [GRCh38]
Chr16:23614774..23625418 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.233T>C (p.Val78Ala) single nucleotide variant Familial cancer of breast [RCV001044744]|Hereditary cancer-predisposing syndrome [RCV000575076] Chr16:23636313 [GRCh38]
Chr16:23647634 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.1708G>C (p.Glu570Gln) single nucleotide variant Breast-ovarian cancer, familial, susceptibility to, 5 [RCV005367382]|Familial cancer of breast [RCV000542001]|Hereditary cancer-predisposing syndrome [RCV004943960]|PALB2-related disorder [RCV004722886] Chr16:23630446 [GRCh38]
Chr16:23641767 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1698T>C (p.Arg566=) single nucleotide variant Familial cancer of breast [RCV000636002]|Hereditary cancer-predisposing syndrome [RCV000571358]|PALB2-related disorder [RCV004530619]|not provided [RCV001755959] Chr16:23630456 [GRCh38]
Chr16:23641777 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.2660T>G (p.Ile887Ser) single nucleotide variant Familial cancer of breast [RCV001221245]|Hereditary cancer-predisposing syndrome [RCV000571382]|PALB2-related disorder [RCV004722939]|Pancreatic cancer, susceptibility to, 3 [RCV001030338] Chr16:23626324 [GRCh38]
Chr16:23637645 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1784A>G (p.Asp595Gly) single nucleotide variant Familial cancer of breast [RCV000812280]|Hereditary cancer-predisposing syndrome [RCV000571419] Chr16:23630370 [GRCh38]
Chr16:23641691 [GRCh37]
Chr16:16p12.2		 likely benign|uncertain significance
NM_024675.4(PALB2):c.102C>T (p.Arg34=) single nucleotide variant Familial cancer of breast [RCV000538446]|Hereditary cancer-predisposing syndrome [RCV001009749] Chr16:23638076 [GRCh38]
Chr16:23649397 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.850A>G (p.Thr284Ala) single nucleotide variant Familial cancer of breast [RCV003607310]|Hereditary cancer-predisposing syndrome [RCV000575140]|not provided [RCV001030183] Chr16:23635696 [GRCh38]
Chr16:23647017 [GRCh37]
Chr16:16p12.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.212-24TA[4] microsatellite Familial cancer of breast [RCV000410697]|Familial cancer of breast [RCV002502438]|Hereditary cancer-predisposing syndrome [RCV000583383]|not provided [RCV000679763] Chr16:23636352..23636353 [GRCh38]
Chr16:23647673..23647674 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.2467C>T (p.Leu823Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000571473] Chr16:23629687 [GRCh38]
Chr16:23641008 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2596G>T (p.Gly866Cys) single nucleotide variant Familial cancer of breast [RCV000536489]|Hereditary cancer-predisposing syndrome [RCV001187392]|not provided [RCV000759899]|not specified [RCV004596242] Chr16:23626388 [GRCh38]
Chr16:23637709 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.430C>G (p.Pro144Ala) single nucleotide variant Familial cancer of breast [RCV000696043]|Hereditary cancer-predisposing syndrome [RCV000574433] Chr16:23636116 [GRCh38]
Chr16:23647437 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2749-2A>C single nucleotide variant Familial cancer of breast [RCV001858134]|Hereditary cancer-predisposing syndrome [RCV000574502] Chr16:23624096 [GRCh38]
Chr16:23635417 [GRCh37]
Chr16:16p12.2		 likely pathogenic
NM_024675.4(PALB2):c.2910T>G (p.Leu970=) single nucleotide variant Familial cancer of breast [RCV005091320]|Hereditary cancer-predisposing syndrome [RCV000560926] Chr16:23623055 [GRCh38]
Chr16:23634376 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.1633G>A (p.Glu545Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000560954] Chr16:23634913 [GRCh38]
Chr16:23646234 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2512C>T (p.Gln838Ter) single nucleotide variant Familial cancer of breast [RCV001053672]|Hereditary breast ovarian cancer syndrome [RCV001553686]|Hereditary cancer-predisposing syndrome [RCV000561038] Chr16:23629642 [GRCh38]
Chr16:23640963 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic
NM_024675.4(PALB2):c.2928G>T (p.Arg976Ser) single nucleotide variant Breast-ovarian cancer, familial, susceptibility to, 5 [RCV003444569]|Familial cancer of breast [RCV000556190]|Hereditary cancer-predisposing syndrome [RCV000777238]|not provided [RCV002298647] Chr16:23623037 [GRCh38]
Chr16:23634358 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.3194C>G (p.Ser1065Cys) single nucleotide variant Familial cancer of breast [RCV000635916]|Hereditary cancer-predisposing syndrome [RCV000569766] Chr16:23614011 [GRCh38]
Chr16:23625332 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2473A>G (p.Arg825Gly) single nucleotide variant Familial cancer of breast [RCV000764048]|Familial cancer of breast [RCV001861653]|Hereditary cancer-predisposing syndrome [RCV000454362] Chr16:23629681 [GRCh38]
Chr16:23641002 [GRCh37]
Chr16:16p12.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 16p12.3-11.2(chr16:19424115-30142220)x3 copy number gain See cases [RCV000449403] Chr16:19424115..30142220 [GRCh37]
Chr16:16p12.3-11.2		 pathogenic
NM_024675.4(PALB2):c.1557C>T (p.Ala519=) single nucleotide variant Familial cancer of breast [RCV000553079]|Hereditary cancer-predisposing syndrome [RCV000454128] Chr16:23634989 [GRCh38]
Chr16:23646310 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.1186dup (p.Cys396fs) duplication Familial cancer of breast [RCV000685167]|Hereditary cancer-predisposing syndrome [RCV000454134]|not provided [RCV000985883] Chr16:23635359..23635360 [GRCh38]
Chr16:23646680..23646681 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.956C>T (p.Ser319Phe) single nucleotide variant Familial cancer of breast [RCV000792997]|Hereditary cancer-predisposing syndrome [RCV000454136] Chr16:23635590 [GRCh38]
Chr16:23646911 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2974_2975dup (p.Met992fs) duplication Familial cancer of breast [RCV000635661]|Hereditary cancer-predisposing syndrome [RCV000454143] Chr16:23622989..23622990 [GRCh38]
Chr16:23634310..23634311 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic
NM_024675.4(PALB2):c.976dup (p.Ser326fs) duplication Familial cancer of breast [RCV000635689]|Hereditary cancer-predisposing syndrome [RCV000454170] Chr16:23635569..23635570 [GRCh38]
Chr16:23646890..23646891 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.1350_1355del (p.450NL[1]) deletion Familial cancer of breast [RCV000706688]|Hereditary cancer-predisposing syndrome [RCV000454172] Chr16:23635191..23635196 [GRCh38]
Chr16:23646512..23646517 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.931A>T (p.Lys311Ter) single nucleotide variant Familial cancer of breast [RCV003476020]|Hereditary cancer-predisposing syndrome [RCV000454180] Chr16:23635615 [GRCh38]
Chr16:23646936 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic
NM_024675.4(PALB2):c.2850del (p.Ser951fs) deletion Familial cancer of breast [RCV001383427]|Hereditary cancer-predisposing syndrome [RCV000454187]|not provided [RCV001284198] Chr16:23623115 [GRCh38]
Chr16:23634436 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.3202-2A>C single nucleotide variant Familial cancer of breast [RCV000576715]|Hereditary cancer-predisposing syndrome [RCV000454196] Chr16:23608014 [GRCh38]
Chr16:23619335 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic
NM_024675.4(PALB2):c.2748+2T>C single nucleotide variant Familial cancer of breast [RCV003449105]|Hereditary cancer-predisposing syndrome [RCV000454214] Chr16:23626234 [GRCh38]
Chr16:23637555 [GRCh37]
Chr16:16p12.2		 likely pathogenic
NM_024675.4(PALB2):c.1114dup (p.Ser372fs) duplication Familial cancer of breast [RCV000534137]|Hereditary cancer-predisposing syndrome [RCV000454221]|not provided [RCV000657345] Chr16:23635431..23635432 [GRCh38]
Chr16:23646752..23646753 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic
NM_024675.4(PALB2):c.1047_1050del (p.Asn349fs) deletion Familial cancer of breast [RCV003449103]|Hereditary cancer-predisposing syndrome [RCV000454229] Chr16:23635496..23635499 [GRCh38]
Chr16:23646817..23646820 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.2832del (p.Arg945fs) deletion Familial cancer of breast [RCV001861654]|Fanconi anemia complementation group N [RCV001782911]|Hereditary cancer-predisposing syndrome [RCV000454241]|not provided [RCV001030346] Chr16:23624011 [GRCh38]
Chr16:23635332 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic
NM_024675.4(PALB2):c.1591_1592del (p.Leu531fs) deletion Familial cancer of breast [RCV003449104]|Hereditary cancer-predisposing syndrome [RCV000454252] Chr16:23634954..23634955 [GRCh38]
Chr16:23646275..23646276 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.2930T>C (p.Leu977Pro) single nucleotide variant Familial cancer of breast [RCV000635859]|Hereditary cancer-predisposing syndrome [RCV000454273] Chr16:23623035 [GRCh38]
Chr16:23634356 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2092del (p.Leu698fs) deletion Familial cancer of breast [RCV000687337]|Hereditary cancer-predisposing syndrome [RCV000454277]|not provided [RCV001008879] Chr16:23630062 [GRCh38]
Chr16:23641383 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.3464C>G (p.Ser1155Cys) single nucleotide variant Familial cancer of breast [RCV000529716]|Hereditary cancer-predisposing syndrome [RCV000454280]|not provided [RCV000480681] Chr16:23603556 [GRCh38]
Chr16:23614877 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.48+1del deletion Hereditary cancer-predisposing syndrome [RCV000454282] Chr16:23641109 [GRCh38]
Chr16:23652430 [GRCh37]
Chr16:16p12.2		 likely pathogenic
NM_024675.4(PALB2):c.106C>T (p.Gln36Ter) single nucleotide variant Familial cancer of breast [RCV000763378]|Familial cancer of breast [RCV001380280]|Hereditary cancer-predisposing syndrome [RCV000454301]|not provided [RCV000657579] Chr16:23638072 [GRCh38]
Chr16:23649393 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.3311del (p.Gly1104fs) deletion Hereditary cancer-predisposing syndrome [RCV000454312]|not provided [RCV000484224] Chr16:23607903 [GRCh38]
Chr16:23619224 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.2343C>A (p.Ser781Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000454316] Chr16:23629811 [GRCh38]
Chr16:23641132 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2103C>T (p.Ser701=) single nucleotide variant Familial cancer of breast [RCV000554777]|Hereditary cancer-predisposing syndrome [RCV000454317]|not provided [RCV001721487] Chr16:23630051 [GRCh38]
Chr16:23641372 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.1817_1818del (p.Phe606fs) deletion Familial cancer of breast [RCV002526374]|Hereditary cancer-predisposing syndrome [RCV000454322] Chr16:23630336..23630337 [GRCh38]
Chr16:23641657..23641658 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.759del (p.Ser254fs) deletion Familial cancer of breast [RCV000458746]|Hereditary cancer-predisposing syndrome [RCV000454341] Chr16:23635787 [GRCh38]
Chr16:23647108 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_024675.4(PALB2):c.2765T>A (p.Ile922Lys) single nucleotide variant Familial cancer of breast [RCV001327843]|Hereditary cancer-predisposing syndrome [RCV000454350]|not provided [RCV001800671] Chr16:23624078 [GRCh38]
Chr16:23635399 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.108+1G>A single nucleotide variant Familial cancer of breast [RCV000466548]|Hereditary cancer-predisposing syndrome [RCV000454354]|Pancreatic cancer, susceptibility to, 3 [RCV001258109]|not provided [RCV000484652] Chr16:23638069 [GRCh38]
Chr16:23649390 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic
NM_024675.4(PALB2):c.1039G>T (p.Glu347Ter) single nucleotide variant Breast-ovarian cancer, familial, susceptibility to, 5 [RCV003315427]|Familial cancer of breast [RCV003239290]|Hereditary cancer-predisposing syndrome [RCV000454356] Chr16:23635507 [GRCh38]
Chr16:23646828 [GRCh37]
Chr16:16p12.2		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3 copy number gain See cases [RCV000446684] Chr16:69193..90274381 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p12.2(chr16:23567993-23666408)x1 copy number loss See cases [RCV000447156] Chr16:23567993..23666408 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.78G>A (p.Arg26=) single nucleotide variant Familial cancer of breast [RCV000456431]|Hereditary cancer-predisposing syndrome [RCV000563892]|not provided [RCV001720025]|not specified [RCV004596178] Chr16:23638100 [GRCh38]
Chr16:23649421 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.1989C>T (p.Arg663=) single nucleotide variant Familial cancer of breast [RCV001215378]|Hereditary cancer-predisposing syndrome [RCV002418294]|not specified [RCV000427597] Chr16:23630165 [GRCh38]
Chr16:23641486 [GRCh37]
Chr16:16p12.2		 benign|likely benign|uncertain significance
NM_024675.4(PALB2):c.109-4C>G single nucleotide variant Familial cancer of breast [RCV001396725]|Hereditary cancer-predisposing syndrome [RCV003168693]|not specified [RCV000431241] Chr16:23637956 [GRCh38]
Chr16:23649277 [GRCh37]
Chr16:16p12.2		 likely benign
NM_024675.4(PALB2):c.2043A>G (p.Lys681=) single nucleotide variant Familial cancer of breast [RCV002522695]|Hereditary cancer-predisposing syndrome [RCV004022520]|not specified [RCV000431270] Chr16:23630111 [GRCh38]
Chr16:23641432 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.1110G>A (p.Gln370=) single nucleotide variant Familial cancer of breast [RCV001431166]|Hereditary cancer-predisposing syndrome [RCV001017332]|not provided [RCV001357517] Chr16:23635436 [GRCh38]
Chr16:23646757 [GRCh37]
Chr16:16p12.2		 benign|likely benign|uncertain significance
NM_024675.4(PALB2):c.3351-9T>C single nucleotide variant Familial cancer of breast [RCV002522659]|not specified [RCV000437964] Chr16:23603678 [GRCh38]
Chr16:23614999 [GRCh37]
Chr16:16p12.2		 likely benign
NM_024675.4(PALB2):c.48+19G>A single nucleotide variant Familial cancer of breast [RCV002063502]|Hereditary cancer-predisposing syndrome [RCV000579460]|not specified [RCV000441483] Chr16:23641091 [GRCh38]
Chr16:23652412 [GRCh37]
Chr16:16p12.2		 likely benign
NM_024675.4(PALB2):c.1166T>C (p.Leu389Pro) single nucleotide variant Familial cancer of breast [RCV000697985]|Hereditary cancer-predisposing syndrome [RCV001017499] Chr16:23635380 [GRCh38]
Chr16:23646701 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2587-5G>A single nucleotide variant Familial cancer of breast [RCV000474454]|Hereditary cancer-predisposing syndrome [RCV003168660]|not specified [RCV000427652] Chr16:23626402 [GRCh38]
Chr16:23637723 [GRCh37]
Chr16:16p12.2		 likely benign
NM_024675.4(PALB2):c.212-7T>C single nucleotide variant Familial cancer of breast [RCV000560076]|Hereditary cancer-predisposing syndrome [RCV001178270]|not specified [RCV000427697] Chr16:23636341 [GRCh38]
Chr16:23647662 [GRCh37]
Chr16:16p12.2		 likely benign
NM_024675.4(PALB2):c.48+19G>C single nucleotide variant Familial cancer of breast [RCV002063655]|not specified [RCV000431523] Chr16:23641091 [GRCh38]
Chr16:23652412 [GRCh37]
Chr16:16p12.2		 likely benign
NM_024675.4(PALB2):c.3220C>T (p.Leu1074=) single nucleotide variant Familial cancer of breast [RCV001466865]|Hereditary cancer-predisposing syndrome [RCV000562360]|not specified [RCV000431540] Chr16:23607994 [GRCh38]
Chr16:23619315 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.3113+11C>T single nucleotide variant Familial cancer of breast [RCV002058921]|Hereditary cancer-predisposing syndrome [RCV000775909]|not specified [RCV000434599] Chr16:23621351 [GRCh38]
Chr16:23632672 [GRCh37]
Chr16:16p12.2		 likely benign
NM_024675.4(PALB2):c.3201+10G>A single nucleotide variant Familial cancer of breast [RCV000474901]|Hereditary cancer-predisposing syndrome [RCV000582777]|not provided [RCV005230341]|not specified [RCV000431630] Chr16:23613994 [GRCh38]
Chr16:23625315 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.3054G>A (p.Glu1018=) single nucleotide variant Familial cancer of breast [RCV001409459]|Hereditary cancer-predisposing syndrome [RCV002446687]|not specified [RCV000434836] Chr16:23621421 [GRCh38]
Chr16:23632742 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.2655A>G (p.Pro885=) single nucleotide variant Familial cancer of breast [RCV001423949]|Hereditary cancer-predisposing syndrome [RCV000775917]|not provided [RCV001698367] Chr16:23626329 [GRCh38]
Chr16:23637650 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.2587-16G>A single nucleotide variant Familial cancer of breast [RCV005421762]|not specified [RCV000438335] Chr16:23626413 [GRCh38]
Chr16:23637734 [GRCh37]
Chr16:16p12.2		 likely benign
NM_024675.4(PALB2):c.903T>C (p.Asp301=) single nucleotide variant Familial cancer of breast [RCV001451954]|Hereditary cancer-predisposing syndrome [RCV003298435]|not specified [RCV000438352] Chr16:23635643 [GRCh38]
Chr16:23646964 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.832C>T (p.Leu278=) single nucleotide variant Familial cancer of breast [RCV001430081]|Hereditary cancer-predisposing syndrome [RCV002436308]|not specified [RCV000424718] Chr16:23635714 [GRCh38]
Chr16:23647035 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.3113+12C>A single nucleotide variant PALB2-related cancer predisposition [RCV005365292]|not specified [RCV000442520] Chr16:23621350 [GRCh38]
Chr16:23632671 [GRCh37]
Chr16:16p12.2		 likely benign
NM_024675.4(PALB2):c.2834+15A>G single nucleotide variant Breast-ovarian cancer, familial, susceptibility to, 5 [RCV003316526]|Familial cancer of breast [RCV002061456]|Hereditary breast ovarian cancer syndrome [RCV002225612]|Hereditary cancer-predisposing syndrome [RCV000580268]|not provided [RCV001810892]|not specified [RCV000418834] Chr16:23623994 [GRCh38]
Chr16:23635315 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.3099C>T (p.Asn1033=) single nucleotide variant Familial cancer of breast [RCV000460475]|Hereditary cancer-predisposing syndrome [RCV000568402]|not specified [RCV000442675] Chr16:23621376 [GRCh38]
Chr16:23632697 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.2992G>A (p.Gly998Arg) single nucleotide variant Familial cancer of breast [RCV001046244]|Hereditary cancer-predisposing syndrome [RCV000775926]|not specified [RCV000442850] Chr16:23622973 [GRCh38]
Chr16:23634294 [GRCh37]
Chr16:16p12.2		 likely benign|uncertain significance
NM_024675.4(PALB2):c.1448C>G (p.Ser483Ter) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001525971]|not provided [RCV000421638] Chr16:23635098 [GRCh38]
Chr16:23646419 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.2220A>G (p.Gln740=) single nucleotide variant not specified [RCV000425244] Chr16:23629934 [GRCh38]
Chr16:23641255 [GRCh37]
Chr16:16p12.2		 likely benign
NM_024675.4(PALB2):c.1812G>A (p.Leu604=) single nucleotide variant Familial cancer of breast [RCV001396100]|Hereditary cancer-predisposing syndrome [RCV001013278]|not specified [RCV000432191] Chr16:23630342 [GRCh38]
Chr16:23641663 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.249C>T (p.His83=) single nucleotide variant Familial cancer of breast [RCV001438952]|Hereditary cancer-predisposing syndrome [RCV001015757]|PALB2-related disorder [RCV004539881]|not provided [RCV001726173]|not specified [RCV000435762] Chr16:23636297 [GRCh38]
Chr16:23647618 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.2319T>G (p.Thr773=) single nucleotide variant Familial cancer of breast [RCV003500537]|Hereditary cancer-predisposing syndrome [RCV001015170]|not specified [RCV000439306] Chr16:23629835 [GRCh38]
Chr16:23641156 [GRCh37]
Chr16:16p12.2		 likely benign
NM_024675.4(PALB2):c.1684+4A>C single nucleotide variant not specified [RCV000443024] Chr16:23634858 [GRCh38]
Chr16:23646179 [GRCh37]
Chr16:16p12.2		 likely benign
NM_024675.4(PALB2):c.1685-14T>A single nucleotide variant Familial cancer of breast [RCV000663142]|Hereditary cancer-predisposing syndrome [RCV003584602]|PALB2-related cancer predisposition [RCV005355771]|not specified [RCV000443095] Chr16:23630483 [GRCh38]
Chr16:23641804 [GRCh37]
Chr16:16p12.2		 likely benign|conflicting interpretations of pathogenicity
NM_024675.4(PALB2):c.1438A>T (p.Lys480Ter) single nucleotide variant Familial cancer of breast [RCV001390153]|Hereditary cancer-predisposing syndrome [RCV005384711]|not provided [RCV000424678] Chr16:23635108 [GRCh38]
Chr16:23646429 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.2880A>G (p.Leu960=) single nucleotide variant Familial cancer of breast [RCV001475906]|not specified [RCV000429088] Chr16:23623085 [GRCh38]
Chr16:23634406 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.3432C>G (p.Leu1144=) single nucleotide variant Familial cancer of breast [RCV001470539]|Hereditary cancer-predisposing syndrome [RCV000564530]|not provided [RCV000872091] Chr16:23603588 [GRCh38]
Chr16:23614909 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.297A>G (p.Thr99=) single nucleotide variant Familial cancer of breast [RCV000943674]|Hereditary cancer-predisposing syndrome [RCV001017753]|not specified [RCV000436028] Chr16:23636249 [GRCh38]
Chr16:23647570 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.2835-11A>G single nucleotide variant Familial cancer of breast [RCV002062437]|Hereditary cancer-predisposing syndrome [RCV000582354]|PALB2-related cancer predisposition [RCV005355739]|not provided [RCV001712372]|not specified [RCV005230337] Chr16:23623141 [GRCh38]
Chr16:23634462 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.2993G>C (p.Gly998Ala) single nucleotide variant Familial cancer of breast [RCV001038066]|Hereditary cancer-predisposing syndrome [RCV000775893]|not specified [RCV000425596] Chr16:23622972 [GRCh38]
Chr16:23634293 [GRCh37]
Chr16:16p12.2		 likely benign|uncertain significance
NM_024675.4(PALB2):c.1497G>A (p.Leu499=) single nucleotide variant Familial cancer of breast [RCV000868026]|Fanconi anemia complementation group N [RCV005398560]|Hereditary cancer-predisposing syndrome [RCV000563978]|not provided [RCV001712401] Chr16:23635049 [GRCh38]
Chr16:23646370 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.211+14A>G single nucleotide variant Familial cancer of breast [RCV002061455]|not specified [RCV000429399] Chr16:23637836 [GRCh38]
Chr16:23649157 [GRCh37]
Chr16:16p12.2		 likely benign
NM_024675.4(PALB2):c.2514+18T>G single nucleotide variant Familial cancer of breast [RCV002062411]|Hereditary cancer-predisposing syndrome [RCV001180017]|not specified [RCV000439754] Chr16:23629622 [GRCh38]
Chr16:23640943 [GRCh37]
Chr16:16p12.2		 likely benign
NM_024675.4(PALB2):c.2391A>G (p.Gln797=) single nucleotide variant Familial cancer of breast [RCV002063480]|Hereditary cancer-predisposing syndrome [RCV002451033]|not specified [RCV000422395] Chr16:23629763 [GRCh38]
Chr16:23641084 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.66A>G (p.Ala22=) single nucleotide variant Familial cancer of breast [RCV001456862]|Fanconi anemia complementation group N [RCV001119846]|Hereditary cancer-predisposing syndrome [RCV000569467]|not provided [RCV000923663] Chr16:23638112 [GRCh38]
Chr16:23649433 [GRCh37]
Chr16:16p12.2		 benign|likely benign|uncertain significance
NM_024675.4(PALB2):c.201A>G (p.Leu67=) single nucleotide variant Familial cancer of breast [RCV002061454]|Hereditary cancer-predisposing syndrome [RCV000580577]|not specified [RCV000422637] Chr16:23637860 [GRCh38]
Chr16:23649181 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.1611G>A (p.Ser537=) single nucleotide variant Breast-ovarian cancer, familial, susceptibility to, 5 [RCV005355718]|Familial cancer of breast [RCV000989569]|Fanconi anemia complementation group N [RCV001121721]|Hereditary cancer-predisposing syndrome [RCV000572139]|not provided [RCV001703482]|not specified [RCV005407090] Chr16:23634935 [GRCh38]
Chr16:23646256 [GRCh37]
Chr16:16p12.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.1685-1G>C single nucleotide variant Familial cancer of breast [RCV001055212]|Hereditary cancer-predisposing syndrome [RCV002411312]|not provided [RCV000431972] Chr16:23630470 [GRCh38]
Chr16:23641791 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.48+16G>A single nucleotide variant Familial cancer of breast [RCV001861582]|not specified [RCV000436803] Chr16:23641094 [GRCh38]
Chr16:23652415 [GRCh37]
Chr16:16p12.2		 likely benign
NM_024675.4(PALB2):c.1123C>T (p.Leu375=) single nucleotide variant Familial cancer of breast [RCV000937924]|Hereditary cancer-predisposing syndrome [RCV001009925]|not specified [RCV000444135] Chr16:23635423 [GRCh38]
Chr16:23646744 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.1659C>T (p.His553=) single nucleotide variant Familial cancer of breast [RCV000636042]|Hereditary cancer-predisposing syndrome [RCV000568745]|not specified [RCV000444145] Chr16:23634887 [GRCh38]
Chr16:23646208 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.1684+10G>A single nucleotide variant Familial cancer of breast [RCV001426448]|Hereditary cancer-predisposing syndrome [RCV000580107]|not specified [RCV000423010] Chr16:23634852 [GRCh38]
Chr16:23646173 [GRCh37]
Chr16:16p12.2		 likely benign
NM_024675.4(PALB2):c.1974A>G (p.Glu658=) single nucleotide variant Familial cancer of breast [RCV003607284]|Hereditary cancer-predisposing syndrome [RCV004022396]|not specified [RCV000433512] Chr16:23630180 [GRCh38]
Chr16:23641501 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.462A>G (p.Thr154=) single nucleotide variant Familial cancer of breast [RCV000874635]|Hereditary cancer-predisposing syndrome [RCV000569273]|not specified [RCV000436997] Chr16:23636084 [GRCh38]
Chr16:23647405 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.2034A>G (p.Leu678=) single nucleotide variant Familial cancer of breast [RCV000472557]|Hereditary cancer-predisposing syndrome [RCV000572092]|PALB2-related disorder [RCV004739720]|not provided [RCV001703483] Chr16:23630120 [GRCh38]
Chr16:23641441 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.1971G>A (p.Glu657=) single nucleotide variant Familial cancer of breast [RCV002059668]|not specified [RCV000444352] Chr16:23630183 [GRCh38]
Chr16:23641504 [GRCh37]
Chr16:16p12.2		 likely benign
NM_024675.4(PALB2):c.1424C>A (p.Ser475Ter) single nucleotide variant Familial cancer of breast [RCV003449055]|Hereditary cancer-predisposing syndrome [RCV005384712]|not provided [RCV000436797] Chr16:23635122 [GRCh38]
Chr16:23646443 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.3474T>C (p.His1158=) single nucleotide variant Familial cancer of breast [RCV000461054]|Hereditary cancer-predisposing syndrome [RCV000567371]|not specified [RCV000423165] Chr16:23603546 [GRCh38]
Chr16:23614867 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.429G>T (p.Leu143=) single nucleotide variant Familial cancer of breast [RCV000636040]|Hereditary cancer-predisposing syndrome [RCV002328982]|not specified [RCV000423198] Chr16:23636117 [GRCh38]
Chr16:23647438 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.2652G>A (p.Glu884=) single nucleotide variant Familial cancer of breast [RCV003607285]|Hereditary cancer-predisposing syndrome [RCV004943840]|not specified [RCV000433849] Chr16:23626332 [GRCh38]
Chr16:23637653 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.2901A>G (p.Lys967=) single nucleotide variant Familial cancer of breast [RCV000939681]|Hereditary cancer-predisposing syndrome [RCV002436339]|not provided [RCV001704506] Chr16:23623064 [GRCh38]
Chr16:23634385 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.49-4C>T single nucleotide variant Familial cancer of breast [RCV001409521]|Hereditary cancer-predisposing syndrome [RCV002339057]|not specified [RCV000427040] Chr16:23638133 [GRCh38]
Chr16:23649454 [GRCh37]
Chr16:16p12.2		 likely benign
NM_024675.4(PALB2):c.1746C>T (p.Ser582=) single nucleotide variant Familial cancer of breast [RCV001490679]|Hereditary cancer-predisposing syndrome [RCV000775902]|not provided [RCV003477918]|not specified [RCV000430741] Chr16:23630408 [GRCh38]
Chr16:23641729 [GRCh37]
Chr16:16p12.2		 benign|likely benign|uncertain significance
NM_024675.4(PALB2):c.309G>A (p.Gly103=) single nucleotide variant Familial cancer of breast [RCV001421853]|Hereditary cancer-predisposing syndrome [RCV002323618]|not specified [RCV000430777] Chr16:23636237 [GRCh38]
Chr16:23647558 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.3419G>C (p.Trp1140Ser) single nucleotide variant Familial cancer of breast [RCV000459022]|Hereditary cancer-predisposing syndrome [RCV001020256]|not provided [RCV004999469] Chr16:23603601 [GRCh38]
Chr16:23614922 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.695del (p.Gly232fs) deletion Familial cancer of breast [RCV000462844]|Hereditary cancer-predisposing syndrome [RCV001177042]|Inherited prostate cancer [RCV004584215]|Malignant tumor of breast [RCV001355700]|Pancreatic cancer, susceptibility to, 3 [RCV004796185] Chr16:23635851 [GRCh38]
Chr16:23647172 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.1492G>A (p.Asp498Asn) single nucleotide variant Familial cancer of breast [RCV000466463]|Familial cancer of breast [RCV002496776]|Hereditary cancer-predisposing syndrome [RCV000572623] Chr16:23635054 [GRCh38]
Chr16:23646375 [GRCh37]
Chr16:16p12.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.1383T>A (p.Ser461Arg) single nucleotide variant Familial cancer of breast [RCV000470251]|Familial cancer of breast [RCV002481444]|Hereditary cancer-predisposing syndrome [RCV000568070]|not provided [RCV000679760]|not specified [RCV000781681] Chr16:23635163 [GRCh38]
Chr16:23646484 [GRCh37]
Chr16:16p12.2		 uncertain significance
NC_000016.10:g.(?_23621362)_(23641357_?)del deletion Familial cancer of breast [RCV000240082] Chr16:23621362..23641357 [GRCh38]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.20A>G (p.Lys7Arg) single nucleotide variant Familial cancer of breast [RCV000702590]|Hereditary cancer-predisposing syndrome [RCV000571040]|PALB2-related disorder [RCV004527591]|not provided [RCV000483460]|not specified [RCV003226305] Chr16:23641138 [GRCh38]
Chr16:23652459 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.45A>G (p.Glu15=) single nucleotide variant Familial cancer of breast [RCV001085519]|Familial pancreatic carcinoma [RCV005355905]|Hereditary cancer-predisposing syndrome [RCV003168912]|not provided [RCV000828254] Chr16:23641113 [GRCh38]
Chr16:23652434 [GRCh37]
Chr16:16p12.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.1435C>T (p.Gln479Ter) single nucleotide variant Familial cancer of breast [RCV000463150]|Hereditary cancer-predisposing syndrome [RCV001011563] Chr16:23635111 [GRCh38]
Chr16:23646432 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.3262C>G (p.Pro1088Ala) single nucleotide variant Familial cancer of breast [RCV000466711] Chr16:23607952 [GRCh38]
Chr16:23619273 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.177T>C (p.Ser59=) single nucleotide variant Familial cancer of breast [RCV001413033] Chr16:23637884 [GRCh38]
Chr16:23649205 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.294C>G (p.Ile98Met) single nucleotide variant Familial cancer of breast [RCV000470493]|Fanconi anemia complementation group N [RCV005398627]|Hereditary cancer-predisposing syndrome [RCV003362793] Chr16:23636252 [GRCh38]
Chr16:23647573 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2514+8C>T single nucleotide variant Familial cancer of breast [RCV000470502]|Hereditary cancer-predisposing syndrome [RCV004017633]|PALB2-related disorder [RCV004740248] Chr16:23629632 [GRCh38]
Chr16:23640953 [GRCh37]
Chr16:16p12.2		 likely benign|uncertain significance
NM_024675.4(PALB2):c.619C>A (p.Pro207Thr) single nucleotide variant Familial cancer of breast [RCV000474143] Chr16:23635927 [GRCh38]
Chr16:23647248 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2877A>T (p.Val959=) single nucleotide variant Familial cancer of breast [RCV001409446]|Hereditary cancer-predisposing syndrome [RCV002436504]|not specified [RCV000605173] Chr16:23623088 [GRCh38]
Chr16:23634409 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.892G>C (p.Val298Leu) single nucleotide variant Familial cancer of breast [RCV000474350] Chr16:23635654 [GRCh38]
Chr16:23646975 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1537A>G (p.Thr513Ala) single nucleotide variant Carcinoma of colon [RCV001030235]|Familial cancer of breast [RCV000474363]|Familial cancer of breast [RCV002480416]|Hereditary cancer-predisposing syndrome [RCV000575626]|not provided [RCV000587874] Chr16:23635009 [GRCh38]
Chr16:23646330 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.2730T>A (p.Tyr910Ter) single nucleotide variant Familial cancer of breast [RCV000459119]|Familial cancer of breast [RCV002489062]|Hereditary cancer-predisposing syndrome [RCV000568217]|not provided [RCV000657580] Chr16:23626254 [GRCh38]
Chr16:23637575 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic
NM_024675.4(PALB2):c.1225T>C (p.Tyr409His) single nucleotide variant Familial cancer of breast [RCV001306440]|Hereditary cancer-predisposing syndrome [RCV001010425]|not provided [RCV000479502] Chr16:23635321 [GRCh38]
Chr16:23646642 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.3286A>G (p.Asn1096Asp) single nucleotide variant Familial cancer of breast [RCV001070851]|Hereditary cancer-predisposing syndrome [RCV002446939]|not provided [RCV000483673] Chr16:23607928 [GRCh38]
Chr16:23619249 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.3432C>T (p.Leu1144=) single nucleotide variant Familial cancer of breast [RCV001084275]|Familial cancer of breast [RCV002496833]|Hereditary breast ovarian cancer syndrome [RCV005355904]|Hereditary cancer-predisposing syndrome [RCV000569983]|PALB2-related disorder [RCV004541491]|not provided [RCV000459418]|not specified [RCV001805092] Chr16:23603588 [GRCh38]
Chr16:23614909 [GRCh37]
Chr16:16p12.2		 benign|likely benign|uncertain significance
NC_000016.10:g.(?_23603162)_(23641357_?)del deletion Familial cancer of breast [RCV000459483] Chr16:23603162..23641357 [GRCh38]
Chr16:23614483..23652678 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.1217C>T (p.Ala406Val) single nucleotide variant Familial cancer of breast [RCV000463216]|Familial cancer of breast [RCV002481447]|Hereditary cancer-predisposing syndrome [RCV000569051]|not provided [RCV001561387] Chr16:23635329 [GRCh38]
Chr16:23646650 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.1503G>A (p.Arg501=) single nucleotide variant Familial cancer of breast [RCV000463328]|Hereditary cancer-predisposing syndrome [RCV000562135] Chr16:23635043 [GRCh38]
Chr16:23646364 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.635C>G (p.Pro212Arg) single nucleotide variant Familial cancer of breast [RCV000466962]|Hereditary cancer-predisposing syndrome [RCV003278818] Chr16:23635911 [GRCh38]
Chr16:23647232 [GRCh37]
Chr16:16p12.2		 uncertain significance
NC_000016.10:g.(?_23621362)_(23623130_?)del deletion Familial cancer of breast [RCV000467057] Chr16:23621362..23623130 [GRCh38]
Chr16:23632683..23634451 [GRCh37]
Chr16:16p12.2		 likely pathogenic
NM_024675.4(PALB2):c.2586+8G>A single nucleotide variant Familial cancer of breast [RCV001412130]|Hereditary cancer-predisposing syndrome [RCV001188077] Chr16:23629196 [GRCh38]
Chr16:23640517 [GRCh37]
Chr16:16p12.2		 likely benign
NM_024675.4(PALB2):c.3151A>G (p.Ile1051Val) single nucleotide variant Familial cancer of breast [RCV000470811] Chr16:23614054 [GRCh38]
Chr16:23625375 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.858T>C (p.Pro286=) single nucleotide variant Familial cancer of breast [RCV001465296]|Hereditary cancer-predisposing syndrome [RCV001192342] Chr16:23635688 [GRCh38]
Chr16:23647009 [GRCh37]
Chr16:16p12.2		 likely benign
NM_024675.4(PALB2):c.2834+3A>G single nucleotide variant Familial cancer of breast [RCV000474406]|Hereditary cancer-predisposing syndrome [RCV001016728] Chr16:23624006 [GRCh38]
Chr16:23635327 [GRCh37]
Chr16:16p12.2		 likely benign|uncertain significance
NM_024675.4(PALB2):c.1929T>C (p.Phe643=) single nucleotide variant Familial cancer of breast [RCV001087451]|Hereditary cancer-predisposing syndrome [RCV000563422]|not provided [RCV000833205] Chr16:23630225 [GRCh38]
Chr16:23641546 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.3(PALB2):c.*146A>G single nucleotide variant Familial cancer of breast [RCV000466324] Chr16:23603313 [GRCh38]
Chr16:23614634 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2793C>T (p.Leu931=) single nucleotide variant Familial cancer of breast [RCV000466413]|Fanconi anemia complementation group N [RCV005398660]|Hereditary cancer-predisposing syndrome [RCV000570321] Chr16:23624050 [GRCh38]
Chr16:23635371 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.548del (p.Ser183fs) deletion Familial cancer of breast [RCV000546704]|not provided [RCV000482031] Chr16:23635998 [GRCh38]
Chr16:23647319 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic
NM_024675.4(PALB2):c.1184C>T (p.Ser395Phe) single nucleotide variant Breast-ovarian cancer, familial, susceptibility to, 5 [RCV005355963]|not provided [RCV000479732] Chr16:23635362 [GRCh38]
Chr16:23646683 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2014G>A (p.Glu672Lys) single nucleotide variant Familial cancer of breast [RCV001068443]|not provided [RCV000479952] Chr16:23630140 [GRCh38]
Chr16:23641461 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1694G>T (p.Ser565Ile) single nucleotide variant Fanconi anemia complementation group N [RCV005018803]|not provided [RCV000479988]|not specified [RCV005230941] Chr16:23630460 [GRCh38]
Chr16:23641781 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2836G>A (p.Ala946Thr) single nucleotide variant Familial cancer of breast [RCV001305631]|Hereditary cancer-predisposing syndrome [RCV004943923]|not provided [RCV000484044] Chr16:23623129 [GRCh38]
Chr16:23634450 [GRCh37]
Chr16:16p12.2		 likely benign|uncertain significance
NM_024675.4(PALB2):c.1399G>C (p.Gly467Arg) single nucleotide variant Familial cancer of breast [RCV000459652]|Hereditary cancer-predisposing syndrome [RCV002393137] Chr16:23635147 [GRCh38]
Chr16:23646468 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2129C>T (p.Thr710Met) single nucleotide variant Familial cancer of breast [RCV000459728]|Familial cancer of breast [RCV002481449]|Hereditary cancer-predisposing syndrome [RCV000573568]|PALB2-related disorder [RCV004740237]|not provided [RCV001030280]|not specified [RCV000780575] Chr16:23630025 [GRCh38]
Chr16:23641346 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.3508C>A (p.His1170Asn) single nucleotide variant Familial cancer of breast [RCV000459786]|Hereditary cancer-predisposing syndrome [RCV001192088] Chr16:23603512 [GRCh38]
Chr16:23614833 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.2725C>G (p.Leu909Val) single nucleotide variant Familial cancer of breast [RCV000463483]|Hereditary cancer-predisposing syndrome [RCV000572861] Chr16:23626259 [GRCh38]
Chr16:23637580 [GRCh37]
Chr16:16p12.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.1405T>C (p.Cys469Arg) single nucleotide variant Familial cancer of breast [RCV000467308]|Hereditary cancer-predisposing syndrome [RCV000565804]|not specified [RCV002509391] Chr16:23635141 [GRCh38]
Chr16:23646462 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.355del (p.Gln119fs) deletion Familial cancer of breast [RCV000470952]|Hereditary cancer-predisposing syndrome [RCV000777931] Chr16:23636191 [GRCh38]
Chr16:23647512 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.2936del (p.Ser979fs) deletion Familial cancer of breast [RCV000471018]|Hereditary cancer-predisposing syndrome [RCV001017569] Chr16:23623029 [GRCh38]
Chr16:23634350 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.510A>C (p.Arg170Ser) single nucleotide variant Familial cancer of breast [RCV000474642]|Fanconi anemia complementation group N [RCV001294231]|Hereditary cancer-predisposing syndrome [RCV000571001]|not provided [RCV003477982] Chr16:23636036 [GRCh38]
Chr16:23647357 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.1742T>C (p.Leu581Ser) single nucleotide variant Familial cancer of breast [RCV000474723]|Hereditary cancer-predisposing syndrome [RCV000561355]|not provided [RCV001584161] Chr16:23630412 [GRCh38]
Chr16:23641733 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1910C>G (p.Pro637Arg) single nucleotide variant Familial cancer of breast [RCV000474810]|Hereditary cancer-predisposing syndrome [RCV005384724] Chr16:23630244 [GRCh38]
Chr16:23641565 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.3325T>C (p.Cys1109Arg) single nucleotide variant Familial cancer of breast [RCV000470766]|Familial cancer of breast [RCV002496778]|Hereditary cancer-predisposing syndrome [RCV000568208] Chr16:23607889 [GRCh38]
Chr16:23619210 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1843C>T (p.Pro615Ser) single nucleotide variant Familial cancer of breast [RCV000474289]|Hereditary cancer-predisposing syndrome [RCV001188083]|Malignant tumor of breast [RCV001358009] Chr16:23630311 [GRCh38]
Chr16:23641632 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.163C>T (p.Gln55Ter) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003168945]|not provided [RCV000482275] Chr16:23637898 [GRCh38]
Chr16:23649219 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.1179A>G (p.Lys393=) single nucleotide variant Familial cancer of breast [RCV001396731]|Hereditary cancer-predisposing syndrome [RCV000567685]|not provided [RCV000480231] Chr16:23635367 [GRCh38]
Chr16:23646688 [GRCh37]
Chr16:16p12.2		 benign|likely benign|uncertain significance
NM_024675.4(PALB2):c.3220C>G (p.Leu1074Val) single nucleotide variant Familial cancer of breast [RCV000541767]|Familial cancer of breast [RCV002475937]|Hereditary cancer-predisposing syndrome [RCV000571325]|not provided [RCV000679770] Chr16:23607994 [GRCh38]
Chr16:23619315 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2514+20_2514+21del microsatellite Familial cancer of breast [RCV000663326]|Hereditary cancer-predisposing syndrome [RCV001179077]|not specified [RCV000484369] Chr16:23629619..23629620 [GRCh38]
Chr16:23640940..23640941 [GRCh37]
Chr16:16p12.2		 likely benign
NM_024675.4(PALB2):c.1593_1594delinsAA (p.Pro532Thr) indel Familial cancer of breast [RCV000456200] Chr16:23634952..23634953 [GRCh38]
Chr16:23646273..23646274 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2434C>T (p.Pro812Ser) single nucleotide variant Familial cancer of breast [RCV000459994]|Hereditary cancer-predisposing syndrome [RCV001015523] Chr16:23629720 [GRCh38]
Chr16:23641041 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1614T>C (p.Ile538=) single nucleotide variant Familial cancer of breast [RCV001451567]|not specified [RCV004596220] Chr16:23634932 [GRCh38]
Chr16:23646253 [GRCh37]
Chr16:16p12.2		 likely benign
NM_024675.4(PALB2):c.1742del (p.Leu581fs) deletion Familial cancer of breast [RCV000474845]|Hereditary cancer-predisposing syndrome [RCV004649163] Chr16:23630412 [GRCh38]
Chr16:23641733 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.2272C>A (p.Pro758Thr) single nucleotide variant Familial cancer of breast [RCV001030294]|Hereditary cancer-predisposing syndrome [RCV000582044]|not provided [RCV000480440] Chr16:23629882 [GRCh38]
Chr16:23641203 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.3106_3108del (p.Val1036del) deletion Hereditary cancer-predisposing syndrome [RCV002323836]|not provided [RCV000480444] Chr16:23621367..23621369 [GRCh38]
Chr16:23632688..23632690 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1357C>T (p.Leu453Phe) single nucleotide variant Familial cancer of breast [RCV001061052]|Hereditary cancer-predisposing syndrome [RCV002383912]|not provided [RCV000484400] Chr16:23635189 [GRCh38]
Chr16:23646510 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2875G>T (p.Val959Leu) single nucleotide variant Familial cancer of breast [RCV001865437]|Hereditary cancer-predisposing syndrome [RCV000562675]|not provided [RCV000484497] Chr16:23623090 [GRCh38]
Chr16:23634411 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.2804C>T (p.Ala935Val) single nucleotide variant Familial cancer of breast [RCV000456370]|not provided [RCV001797089] Chr16:23624039 [GRCh38]
Chr16:23635360 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1671_1674del (p.Ile558fs) microsatellite Colonic neoplasm [RCV001653830]|Familial cancer of breast [RCV000456465]|Gastric cancer [RCV003168820]|Hereditary cancer-predisposing syndrome [RCV000709384]|not provided [RCV001800680] Chr16:23634872..23634875 [GRCh38]
Chr16:23646193..23646196 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.3391A>G (p.Ile1131Val) single nucleotide variant Breast-ovarian cancer, familial, susceptibility to, 5 [RCV005355850]|Familial cancer of breast [RCV000456527]|Hereditary cancer-predisposing syndrome [RCV000771464]|not provided [RCV000589068]|not specified [RCV004596198] Chr16:23603629 [GRCh38]
Chr16:23614950 [GRCh37]
Chr16:16p12.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.2799T>C (p.Cys933=) single nucleotide variant Familial cancer of breast [RCV000456575]|Hereditary cancer-predisposing syndrome [RCV000774625]|not specified [RCV000607558] Chr16:23624044 [GRCh38]
Chr16:23635365 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.764A>G (p.Asp255Gly) single nucleotide variant Familial cancer of breast [RCV000460160]|Hereditary cancer-predisposing syndrome [RCV000771521]|not provided [RCV003477983]|not specified [RCV001824789] Chr16:23635782 [GRCh38]
Chr16:23647103 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.1623G>T (p.Arg541Ser) single nucleotide variant Familial cancer of breast [RCV000463842]|Hereditary cancer-predisposing syndrome [RCV000573051] Chr16:23634923 [GRCh38]
Chr16:23646244 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1137G>A (p.Lys379=) single nucleotide variant Familial cancer of breast [RCV001486591]|not specified [RCV000588160] Chr16:23635409 [GRCh38]
Chr16:23646730 [GRCh37]
Chr16:16p12.2		 likely benign|uncertain significance
NM_024675.4(PALB2):c.2835-7G>A single nucleotide variant Familial cancer of breast [RCV000471397] Chr16:23623137 [GRCh38]
Chr16:23634458 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.3099C>A (p.Asn1033Lys) single nucleotide variant Familial cancer of breast [RCV000476692]|Hereditary cancer-predisposing syndrome [RCV001018602] Chr16:23621376 [GRCh38]
Chr16:23632697 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1067_1068insTA (p.Lys356fs) insertion Familial cancer of breast [RCV001851211]|not provided [RCV000483358] Chr16:23635478..23635479 [GRCh38]
Chr16:23646799..23646800 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic
NM_024675.4(PALB2):c.3421G>A (p.Asp1141Asn) single nucleotide variant Familial cancer of breast [RCV002525917]|Hereditary cancer-predisposing syndrome [RCV004943925]|not provided [RCV000480747] Chr16:23603599 [GRCh38]
Chr16:23614920 [GRCh37]
Chr16:16p12.2		 likely benign|uncertain significance
NM_024675.4(PALB2):c.3246T>A (p.Ser1082Arg) single nucleotide variant Familial cancer of breast [RCV001851221]|not provided [RCV000480789] Chr16:23607968 [GRCh38]
Chr16:23619289 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2614G>A (p.Val872Met) single nucleotide variant Familial cancer of breast [RCV000696384]|Hereditary cancer-predisposing syndrome [RCV004659056]|not provided [RCV000484695] Chr16:23626370 [GRCh38]
Chr16:23637691 [GRCh37]
Chr16:16p12.2		 likely benign|uncertain significance
NM_024675.4(PALB2):c.1303G>A (p.Val435Ile) single nucleotide variant Familial cancer of breast [RCV000635753]|Hereditary cancer-predisposing syndrome [RCV001010868]|not provided [RCV000484772] Chr16:23635243 [GRCh38]
Chr16:23646564 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1600T>G (p.Ser534Ala) single nucleotide variant Chordoma [RCV002266967]|Familial cancer of breast [RCV000689372]|Hereditary cancer-predisposing syndrome [RCV001012375]|not provided [RCV000484915] Chr16:23634946 [GRCh38]
Chr16:23646267 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.1399G>A (p.Gly467Ser) single nucleotide variant Carcinoma of colon [RCV001030223]|Familial cancer of breast [RCV001220144]|Hereditary cancer-predisposing syndrome [RCV001011366]|not provided [RCV000484965] Chr16:23635147 [GRCh38]
Chr16:23646468 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2946G>T (p.Gly982=) single nucleotide variant Familial cancer of breast [RCV000456647]|Hereditary cancer-predisposing syndrome [RCV001525952] Chr16:23623019 [GRCh38]
Chr16:23634340 [GRCh37]
Chr16:16p12.2		 benign|likely benign|uncertain significance
NC_000016.10:g.(?_23624009)_(23624094_?)del deletion Familial cancer of breast [RCV000460399] Chr16:23624009..23624094 [GRCh38]
Chr16:23635330..23635415 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.2623A>T (p.Met875Leu) single nucleotide variant Familial cancer of breast [RCV000460422] Chr16:23626361 [GRCh38]
Chr16:23637682 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2912G>T (p.Gly971Val) single nucleotide variant Familial cancer of breast [RCV000460458]|Hereditary cancer-predisposing syndrome [RCV000572113] Chr16:23623053 [GRCh38]
Chr16:23634374 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2587-2A>C single nucleotide variant Familial cancer of breast [RCV000460478]|Hereditary cancer-predisposing syndrome [RCV002429521] Chr16:23626399 [GRCh38]
Chr16:23637720 [GRCh37]
Chr16:16p12.2		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.25C>T (p.Leu9Phe) single nucleotide variant Familial cancer of breast [RCV000464168]|Familial pancreatic carcinoma [RCV005355848]|Hereditary breast ovarian cancer syndrome [RCV001030718]|Hereditary cancer-predisposing syndrome [RCV000566603]|not provided [RCV001030103]|not specified [RCV002282156] Chr16:23641133 [GRCh38]
Chr16:23652454 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2587-10A>G single nucleotide variant Familial cancer of breast [RCV000467868] Chr16:23626407 [GRCh38]
Chr16:23637728 [GRCh37]
Chr16:16p12.2		 likely benign
NM_024675.4(PALB2):c.2303G>C (p.Cys768Ser) single nucleotide variant Familial cancer of breast [RCV000471672]|Hereditary cancer-predisposing syndrome [RCV001015017] Chr16:23629851 [GRCh38]
Chr16:23641172 [GRCh37]
Chr16:16p12.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.1006A>G (p.Asn336Asp) single nucleotide variant Familial cancer of breast [RCV000471766]|Hereditary cancer-predisposing syndrome [RCV003168822] Chr16:23635540 [GRCh38]
Chr16:23646861 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2720A>G (p.Glu907Gly) single nucleotide variant Familial cancer of breast [RCV000460671]|Hereditary cancer-predisposing syndrome [RCV000565070]|Pancreatic cancer, susceptibility to, 3 [RCV001357370]|not provided [RCV000485757] Chr16:23626264 [GRCh38]
Chr16:23637585 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.470C>T (p.Ser157Leu) single nucleotide variant Familial cancer of breast [RCV000460958]|Hereditary cancer-predisposing syndrome [RCV000581614]|not provided [RCV000481171] Chr16:23636076 [GRCh38]
Chr16:23647397 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1696C>T (p.Arg566Cys) single nucleotide variant Familial cancer of breast [RCV000461240]|Familial cancer of breast [RCV002481446]|Hereditary cancer-predisposing syndrome [RCV000563652]|not provided [RCV000586825] Chr16:23630458 [GRCh38]
Chr16:23641779 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.709C>A (p.Leu237Ile) single nucleotide variant not provided [RCV000480879] Chr16:23635837 [GRCh38]
Chr16:23647158 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2515-21_2515-19del microsatellite Familial cancer of breast [RCV001865450]|Hereditary cancer-predisposing syndrome [RCV000584337]|not specified [RCV000484998] Chr16:23629294..23629296 [GRCh38]
Chr16:23640615..23640617 [GRCh37]
Chr16:16p12.2		 benign|likely benign|uncertain significance
NM_024675.4(PALB2):c.2514G>A (p.Gln838=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003352885]|not provided [RCV000485000] Chr16:23629640 [GRCh38]
Chr16:23640961 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.295A>C (p.Thr99Pro) single nucleotide variant not provided [RCV000485016] Chr16:23636251 [GRCh38]
Chr16:23647572 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.47A>G (p.Lys16Arg) single nucleotide variant Familial cancer of breast [RCV003766700]|Hereditary cancer-predisposing syndrome [RCV000584562]|not provided [RCV000485171] Chr16:23641111 [GRCh38]
Chr16:23652432 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.119_120delinsTT (p.Arg40Ile) indel Familial cancer of breast [RCV003607292]|Hereditary cancer-predisposing syndrome [RCV004943917]|not specified [RCV000485222] Chr16:23637941..23637942 [GRCh38]
Chr16:23649262..23649263 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1212T>G (p.Phe404Leu) single nucleotide variant Familial cancer of breast [RCV000456832]|Hereditary cancer-predisposing syndrome [RCV000572809]|PALB2-related disorder [RCV004529597]|not provided [RCV001584162] Chr16:23635334 [GRCh38]
Chr16:23646655 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1213C>G (p.Pro405Ala) single nucleotide variant Breast and/or ovarian cancer [RCV003492059]|Breast-ovarian cancer, familial, susceptibility to, 5 [RCV005355849]|Familial cancer of breast [RCV000456874]|Hereditary cancer-predisposing syndrome [RCV000561159]|Ovarian cancer [RCV003153632]|PALB2-related disorder [RCV004529596] Chr16:23635333 [GRCh38]
Chr16:23646654 [GRCh37]
Chr16:16p12.2		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|no classifications from unflagged records
NM_024675.4(PALB2):c.34G>A (p.Glu12Lys) single nucleotide variant Familial cancer of breast [RCV000456981]|Hereditary cancer-predisposing syndrome [RCV001020463] Chr16:23641124 [GRCh38]
Chr16:23652445 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2375C>G (p.Ser792Ter) single nucleotide variant Familial cancer of breast [RCV000457054]|Fanconi anemia complementation group N [RCV001813781]|Hereditary cancer-predisposing syndrome [RCV004649161] Chr16:23629779 [GRCh38]
Chr16:23641100 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic
NM_024675.4(PALB2):c.2263T>C (p.Cys755Arg) single nucleotide variant Familial cancer of breast [RCV000464317]|Familial cancer of breast [RCV002489063]|Hereditary cancer-predisposing syndrome [RCV000562621]|not provided [RCV004591325] Chr16:23629891 [GRCh38]
Chr16:23641212 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1084C>G (p.Leu362Val) single nucleotide variant Familial cancer of breast [RCV000475695]|Hereditary cancer-predisposing syndrome [RCV000572723] Chr16:23635462 [GRCh38]
Chr16:23646783 [GRCh37]
Chr16:16p12.2		 likely benign|uncertain significance
NM_024675.4(PALB2):c.1923A>G (p.Lys641=) single nucleotide variant Breast-ovarian cancer, familial, susceptibility to, 5 [RCV003316618]|Familial cancer of breast [RCV000989563]|Hereditary cancer-predisposing syndrome [RCV000570008]|PALB2-related disorder [RCV004740249]|not provided [RCV001721538]|not specified [RCV003987551] Chr16:23630231 [GRCh38]
Chr16:23641552 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.3546A>G (p.Val1182=) single nucleotide variant Familial cancer of breast [RCV000475777]|Hereditary cancer-predisposing syndrome [RCV000579709] Chr16:23603474 [GRCh38]
Chr16:23614795 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.1343G>A (p.Ser448Asn) single nucleotide variant Familial cancer of breast [RCV000464002]|Hereditary cancer-predisposing syndrome [RCV000564122]|not provided [RCV000486431] Chr16:23635203 [GRCh38]
Chr16:23646524 [GRCh37]
Chr16:16p12.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.2188A>G (p.Ile730Val) single nucleotide variant Familial cancer of breast [RCV000468216]|Hereditary cancer-predisposing syndrome [RCV000563382]|Malignant tumor of breast [RCV001354437]|not provided [RCV000479293]|not specified [RCV001199879] Chr16:23629966 [GRCh38]
Chr16:23641287 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.3054G>T (p.Glu1018Asp) single nucleotide variant Familial cancer of breast [RCV000694700]|Hereditary cancer-predisposing syndrome [RCV000561822]|Pancreatic cancer, susceptibility to, 3 [RCV001030372]|not provided [RCV000481068]|not specified [RCV002268123] Chr16:23621421 [GRCh38]
Chr16:23632742 [GRCh37]
Chr16:16p12.2		 benign|likely benign|uncertain significance
NM_024675.4(PALB2):c.769G>C (p.Gly257Arg) single nucleotide variant Familial cancer of breast [RCV003607293]|Hereditary cancer-predisposing syndrome [RCV002402401]|not provided [RCV000485497] Chr16:23635777 [GRCh38]
Chr16:23647098 [GRCh37]
Chr16:16p12.2		 likely benign|uncertain significance
NM_024675.4(PALB2):c.235T>C (p.Tyr79His) single nucleotide variant Familial cancer of breast [RCV000457264]|Hereditary cancer-predisposing syndrome [RCV000774959] Chr16:23636311 [GRCh38]
Chr16:23647632 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2056del (p.Arg686fs) deletion Breast-ovarian cancer, familial, susceptibility to, 5 [RCV004796186]|Familial cancer of breast [RCV000460802] Chr16:23630098 [GRCh38]
Chr16:23641419 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic
NM_024675.4(PALB2):c.1761T>C (p.Ala587=) single nucleotide variant Familial cancer of breast [RCV000460868] Chr16:23630393 [GRCh38]
Chr16:23641714 [GRCh37]
Chr16:16p12.2		 likely benign
NM_024675.4(PALB2):c.673C>T (p.Pro225Ser) single nucleotide variant Familial cancer of breast [RCV000464707]|Hereditary cancer-predisposing syndrome [RCV000775813] Chr16:23635873 [GRCh38]
Chr16:23647194 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2842T>A (p.Phe948Ile) single nucleotide variant Familial cancer of breast [RCV000468342] Chr16:23623123 [GRCh38]
Chr16:23634444 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1752T>C (p.Asp584=) single nucleotide variant Familial cancer of breast [RCV000468528]|Hereditary cancer-predisposing syndrome [RCV000562132] Chr16:23630402 [GRCh38]
Chr16:23641723 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.3484G>A (p.Val1162Met) single nucleotide variant Familial cancer of breast [RCV000476087]|Hereditary cancer-predisposing syndrome [RCV000565094]|not provided [RCV003441880] Chr16:23603536 [GRCh38]
Chr16:23614857 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.3296C>T (p.Thr1099Met) single nucleotide variant Familial cancer of breast [RCV000472486]|Familial cancer of breast [RCV002481448]|Hereditary breast ovarian cancer syndrome [RCV005090913]|Hereditary cancer-predisposing syndrome [RCV000567781]|PALB2-related disorder [RCV004533195]|not provided [RCV000487381]|not specified [RCV003493583] Chr16:23607918 [GRCh38]
Chr16:23619239 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.127A>G (p.Lys43Glu) single nucleotide variant Familial cancer of breast [RCV000474623]|Familial cancer of breast [RCV002481445]|Hereditary cancer-predisposing syndrome [RCV000580520]|not provided [RCV000485071] Chr16:23637934 [GRCh38]
Chr16:23649255 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.1751ATG[4] (p.Asp586dup) microsatellite Familial cancer of breast [RCV001245580]|Hereditary cancer-predisposing syndrome [RCV000564754]|Ovarian neoplasm [RCV000474774]|not provided [RCV000486630] Chr16:23630394..23630395 [GRCh38]
Chr16:23641715..23641716 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.3035C>T (p.Thr1012Ile) single nucleotide variant Familial cancer of breast [RCV000475841]|Fanconi anemia complementation group N [RCV005018786]|Hereditary cancer-predisposing syndrome [RCV000575045]|not provided [RCV000479556] Chr16:23621440 [GRCh38]
Chr16:23632761 [GRCh37]
Chr16:16p12.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.206A>T (p.His69Leu) single nucleotide variant Familial cancer of breast [RCV000476673]|Fanconi anemia complementation group N [RCV005018787]|Hereditary cancer-predisposing syndrome [RCV000569594]|not provided [RCV000485056] Chr16:23637855 [GRCh38]
Chr16:23649176 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.1490A>C (p.Asn497Thr) single nucleotide variant Familial cancer of breast [RCV005093884]|Hereditary cancer-predisposing syndrome [RCV001183874] Chr16:23635056 [GRCh38]
Chr16:23646377 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2915T>C (p.Leu972Pro) single nucleotide variant Familial cancer of breast [RCV001856853]|Fanconi anemia complementation group N [RCV005429022]|Hereditary cancer-predisposing syndrome [RCV002436545]|not provided [RCV000481355] Chr16:23623050 [GRCh38]
Chr16:23634371 [GRCh37]
Chr16:16p12.2		 uncertain significance|not provided
NM_024675.4(PALB2):c.3025C>T (p.Pro1009Ser) single nucleotide variant Familial cancer of breast [RCV000534054]|Familial cancer of breast [RCV002489151]|Hereditary cancer-predisposing syndrome [RCV000571996]|PALB2-related disorder [RCV004527587]|Pancreatic cancer, susceptibility to, 3 [RCV001030367]|not provided [RCV000481367] Chr16:23621450 [GRCh38]
Chr16:23632771 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2411C>T (p.Ser804Phe) single nucleotide variant Familial cancer of breast [RCV000635655]|Familial cancer of breast [RCV002475930]|Hereditary cancer-predisposing syndrome [RCV000581656]|not provided [RCV000481392] Chr16:23629743 [GRCh38]
Chr16:23641064 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.2606C>T (p.Ser869Phe) single nucleotide variant Familial cancer of breast [RCV000688490]|Fanconi anemia complementation group N [RCV005018807]|Hereditary cancer-predisposing syndrome [RCV000580078]|not provided [RCV000481486] Chr16:23626378 [GRCh38]
Chr16:23637699 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.752A>G (p.Gln251Arg) single nucleotide variant Familial cancer of breast [RCV001371804]|Hereditary cancer-predisposing syndrome [RCV001026527]|not provided [RCV000481499] Chr16:23635794 [GRCh38]
Chr16:23647115 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2340C>T (p.Gly780=) single nucleotide variant Familial cancer of breast [RCV000814645]|Hereditary cancer-predisposing syndrome [RCV004943920]|not provided [RCV000485867] Chr16:23629814 [GRCh38]
Chr16:23641135 [GRCh37]
Chr16:16p12.2		 likely benign|uncertain significance
NM_024675.4(PALB2):c.2940C>T (p.Ser980=) single nucleotide variant Breast-ovarian cancer, familial, susceptibility to, 5 [RCV005355903]|Familial cancer of breast [RCV000461224]|Hereditary cancer-predisposing syndrome [RCV000580627]|not provided [RCV001712437] Chr16:23623025 [GRCh38]
Chr16:23634346 [GRCh37]
Chr16:16p12.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_024675.4(PALB2):c.2749-1G>C single nucleotide variant Familial cancer of breast [RCV000461242]|not provided [RCV002509392] Chr16:23624095 [GRCh38]
Chr16:23635416 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic
NM_024675.4(PALB2):c.2424A>C (p.Gly808=) single nucleotide variant Familial cancer of breast [RCV001405471]|Familial cancer of breast [RCV002489126]|Hereditary cancer-predisposing syndrome [RCV000568058] Chr16:23629730 [GRCh38]
Chr16:23641051 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.727A>C (p.Thr243Pro) single nucleotide variant Familial cancer of breast [RCV000464943]|Hereditary cancer-predisposing syndrome [RCV000567643]|not provided [RCV001848813] Chr16:23635819 [GRCh38]
Chr16:23647140 [GRCh37]
Chr16:16p12.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.3152T>C (p.Ile1051Thr) single nucleotide variant Familial cancer of breast [RCV000468630]|Hereditary cancer-predisposing syndrome [RCV002323732] Chr16:23614053 [GRCh38]
Chr16:23625374 [GRCh37]
Chr16:16p12.2		 uncertain significance
NC_000016.9:g.(?_23646183)_(23652678_?)dup duplication Familial cancer of breast [RCV000468677] Chr16:23634862..23641357 [GRCh38]
Chr16:23646183..23652678 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1366G>T (p.Glu456Ter) single nucleotide variant Familial cancer of breast [RCV000472293] Chr16:23635180 [GRCh38]
Chr16:23646501 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_024675.4(PALB2):c.757C>G (p.Leu253Val) single nucleotide variant Familial cancer of breast [RCV000472302]|Hereditary cancer-predisposing syndrome [RCV002393138] Chr16:23635789 [GRCh38]
Chr16:23647110 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.552del (p.Ser184fs) deletion Familial cancer of breast [RCV000476239]|Hereditary cancer-predisposing syndrome [RCV003362794] Chr16:23635994 [GRCh38]
Chr16:23647315 [GRCh37]
Chr16:16p12.2		 pathogenic
NC_000016.10:g.(?_23626236)_(23630469_?)del deletion Familial cancer of breast [RCV000476325] Chr16:23626236..23630469 [GRCh38]
Chr16:23637557..23641790 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.1052C>G (p.Thr351Arg) single nucleotide variant Familial cancer of breast [RCV000706974]|Hereditary cancer-predisposing syndrome [RCV002402385]|not provided [RCV000481668] Chr16:23635494 [GRCh38]
Chr16:23646815 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1491T>G (p.Asn497Lys) single nucleotide variant Familial cancer of breast [RCV000635954]|Hereditary cancer-predisposing syndrome [RCV001011852]|not provided [RCV000486048] Chr16:23635055 [GRCh38]
Chr16:23646376 [GRCh37]
Chr16:16p12.2		 likely benign|uncertain significance
NC_000016.10:g.(?_23621362)_(23626397_?)del deletion Familial cancer of breast [RCV000457552] Chr16:23621362..23626397 [GRCh38]
Chr16:23632683..23637718 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.243G>C (p.Lys81Asn) single nucleotide variant Familial cancer of breast [RCV000457618] Chr16:23636303 [GRCh38]
Chr16:23647624 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.3256C>G (p.Arg1086Gly) single nucleotide variant Familial cancer of breast [RCV000461441]|Hereditary breast ovarian cancer syndrome [RCV005355852]|Hereditary cancer-predisposing syndrome [RCV000773077]|not provided [RCV003319358]|not specified [RCV003321613] Chr16:23607958 [GRCh38]
Chr16:23619279 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.284dup (p.Thr96fs) duplication Familial cancer of breast [RCV000461492] Chr16:23636261..23636262 [GRCh38]
Chr16:23647582..23647583 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.3264_3266dup (p.Val1089dup) duplication Familial cancer of breast [RCV000465048]|Hereditary cancer-predisposing syndrome [RCV000580782] Chr16:23607947..23607948 [GRCh38]
Chr16:23619268..23619269 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2711G>A (p.Trp904Ter) single nucleotide variant Breast-ovarian cancer, familial, susceptibility to, 5 [RCV005355847]|Familial cancer of breast [RCV000465081]|Hereditary cancer-predisposing syndrome [RCV000566729]|not provided [RCV000522916] Chr16:23626273 [GRCh38]
Chr16:23637594 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.3114-3A>G single nucleotide variant Familial cancer of breast [RCV000465211]|Hereditary cancer-predisposing syndrome [RCV000775815]|not provided [RCV002480417] Chr16:23614094 [GRCh38]
Chr16:23625415 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.3064A>G (p.Met1022Val) single nucleotide variant Familial cancer of breast [RCV000465224] Chr16:23621411 [GRCh38]
Chr16:23632732 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2835-3T>C single nucleotide variant Familial cancer of breast [RCV000468775]|Hereditary cancer-predisposing syndrome [RCV001016565]|not specified [RCV004596199] Chr16:23623133 [GRCh38]
Chr16:23634454 [GRCh37]
Chr16:16p12.2		 likely benign|uncertain significance
NM_024675.4(PALB2):c.880A>G (p.Lys294Glu) single nucleotide variant Familial cancer of breast [RCV000468876]|Hereditary cancer-predisposing syndrome [RCV000574047]|not provided [RCV002223850] Chr16:23635666 [GRCh38]
Chr16:23646987 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.2502T>C (p.His834=) single nucleotide variant Familial cancer of breast [RCV001394414] Chr16:23629652 [GRCh38]
Chr16:23640973 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.3023C>T (p.Pro1008Leu) single nucleotide variant Familial cancer of breast [RCV000468963]|Hereditary cancer-predisposing syndrome [RCV000561044] Chr16:23621452 [GRCh38]
Chr16:23632773 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2507T>A (p.Val836Asp) single nucleotide variant Familial cancer of breast [RCV000472505] Chr16:23629647 [GRCh38]
Chr16:23640968 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.853T>C (p.Ser285Pro) single nucleotide variant Familial cancer of breast [RCV000472686]|not provided [RCV001030184] Chr16:23635693 [GRCh38]
Chr16:23647014 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1734T>C (p.Ser578=) single nucleotide variant Familial cancer of breast [RCV000476348]|Hereditary cancer-predisposing syndrome [RCV000569080] Chr16:23630420 [GRCh38]
Chr16:23641741 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.444G>C (p.Lys148Asn) single nucleotide variant Familial cancer of breast [RCV000476400]|Hereditary cancer-predisposing syndrome [RCV000775931] Chr16:23636102 [GRCh38]
Chr16:23647423 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1048C>T (p.Gln350Ter) single nucleotide variant Familial cancer of breast [RCV000476491]|Hereditary cancer-predisposing syndrome [RCV002402280]|not provided [RCV000520926] Chr16:23635498 [GRCh38]
Chr16:23646819 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.2389C>A (p.Gln797Lys) single nucleotide variant Familial cancer of breast [RCV000476517]|Hereditary cancer-predisposing syndrome [RCV000567346]|not provided [RCV003318580] Chr16:23629765 [GRCh38]
Chr16:23641086 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.886dup (p.Met296fs) duplication Familial cancer of breast [RCV000476540]|Gastric cancer [RCV003168821]|Hereditary cancer-predisposing syndrome [RCV000570661]|not provided [RCV001591095] Chr16:23635659..23635660 [GRCh38]
Chr16:23646980..23646981 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.1465del (p.Ser489fs) deletion Familial cancer of breast [RCV003449168]|not provided [RCV000485530] Chr16:23635081 [GRCh38]
Chr16:23646402 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.2335T>G (p.Ser779Ala) single nucleotide variant Familial cancer of breast [RCV001295395]|not provided [RCV000482102] Chr16:23629819 [GRCh38]
Chr16:23641140 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2326T>C (p.Phe776Leu) single nucleotide variant Familial cancer of breast [RCV000662841]|Hereditary cancer-predisposing syndrome [RCV001015195]|not provided [RCV000486202] Chr16:23629828 [GRCh38]
Chr16:23641149 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.3047T>C (p.Phe1016Ser) single nucleotide variant Familial cancer of breast [RCV001316103]|Hereditary cancer-predisposing syndrome [RCV000572600]|not provided [RCV000486222] Chr16:23621428 [GRCh38]
Chr16:23632749 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1462A>G (p.Ser488Gly) single nucleotide variant Familial cancer of breast [RCV000685721]|Hereditary cancer-predisposing syndrome [RCV000571809]|not provided [RCV000486346] Chr16:23635084 [GRCh38]
Chr16:23646405 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1119G>A (p.Glu373=) single nucleotide variant Familial cancer of breast [RCV000635978]|Hereditary cancer-predisposing syndrome [RCV000568342]|not specified [RCV001805193] Chr16:23635427 [GRCh38]
Chr16:23646748 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.1424dup (p.Arg476fs) duplication Familial cancer of breast [RCV000461710]|Hereditary breast ovarian cancer syndrome [RCV003155944]|Hereditary cancer-predisposing syndrome [RCV000709386]|not provided [RCV000657445] Chr16:23635121..23635122 [GRCh38]
Chr16:23646442..23646443 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic
NM_024675.4(PALB2):c.789A>T (p.Glu263Asp) single nucleotide variant Familial cancer of breast [RCV000461747]|Hereditary cancer-predisposing syndrome [RCV002418405] Chr16:23635757 [GRCh38]
Chr16:23647078 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2791C>T (p.Leu931Phe) single nucleotide variant Familial cancer of breast [RCV000465386] Chr16:23624052 [GRCh38]
Chr16:23635373 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.304G>A (p.Val102Ile) single nucleotide variant Familial cancer of breast [RCV000465446]|Hereditary cancer-predisposing syndrome [RCV000562562]|not provided [RCV003332178] Chr16:23636242 [GRCh38]
Chr16:23647563 [GRCh37]
Chr16:16p12.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.269A>G (p.Glu90Gly) single nucleotide variant Familial cancer of breast [RCV000465489] Chr16:23636277 [GRCh38]
Chr16:23647598 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2231A>G (p.Glu744Gly) single nucleotide variant Familial cancer of breast [RCV000469209]|Familial cancer of breast [RCV002496777]|Hereditary cancer-predisposing syndrome [RCV003298495] Chr16:23629923 [GRCh38]
Chr16:23641244 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.953_954del (p.Ser318fs) deletion Familial cancer of breast [RCV000472709]|Hereditary cancer-predisposing syndrome [RCV000775927] Chr16:23635592..23635593 [GRCh38]
Chr16:23646913..23646914 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic
NM_024675.4(PALB2):c.2581T>G (p.Leu861Val) single nucleotide variant Familial cancer of breast [RCV000472859]|Hereditary cancer-predisposing syndrome [RCV004649162] Chr16:23629209 [GRCh38]
Chr16:23640530 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.602G>A (p.Ser201Asn) single nucleotide variant Familial cancer of breast [RCV000476599]|Hereditary cancer-predisposing syndrome [RCV004943900] Chr16:23635944 [GRCh38]
Chr16:23647265 [GRCh37]
Chr16:16p12.2		 likely benign|uncertain significance
NM_024675.4(PALB2):c.2878del (p.Leu960fs) deletion Familial cancer of breast [RCV000524943]|Familial cancer of breast [RCV002496872]|Hereditary cancer-predisposing syndrome [RCV000568432]|not provided [RCV000485849] Chr16:23623087 [GRCh38]
Chr16:23634408 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic
NM_024675.4(PALB2):c.2021A>T (p.Asp674Val) single nucleotide variant Familial cancer of breast [RCV001851157]|Hereditary cancer-predisposing syndrome [RCV005384731]|not provided [RCV000482211] Chr16:23630133 [GRCh38]
Chr16:23641454 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.108+9A>G single nucleotide variant Familial cancer of breast [RCV001495481]|not provided [RCV000482406] Chr16:23638061 [GRCh38]
Chr16:23649382 [GRCh37]
Chr16:16p12.2		 likely benign|uncertain significance
NM_024675.4(PALB2):c.1463G>C (p.Ser488Thr) single nucleotide variant Breast-ovarian cancer, familial, susceptibility to, 5 [RCV003315431]|Familial cancer of breast [RCV000538747]|Hereditary cancer-predisposing syndrome [RCV002395159]|not provided [RCV000486572] Chr16:23635083 [GRCh38]
Chr16:23646404 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.1210T>C (p.Phe404Leu) single nucleotide variant Familial cancer of breast [RCV000795526]|Hereditary cancer-predisposing syndrome [RCV000572900]|not provided [RCV000486674] Chr16:23635336 [GRCh38]
Chr16:23646657 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.3239A>G (p.Lys1080Arg) single nucleotide variant Familial cancer of breast [RCV000531690]|Hereditary cancer-predisposing syndrome [RCV004943961] Chr16:23607975 [GRCh38]
Chr16:23619296 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.119G>A (p.Arg40Lys) single nucleotide variant Breast-ovarian cancer, familial, susceptibility to, 5 [RCV003446134]|Familial cancer of breast [RCV001063588]|Hereditary cancer-predisposing syndrome [RCV000774647]|not provided [RCV000523351] Chr16:23637942 [GRCh38]
Chr16:23649263 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.2677G>T (p.Asp893Tyr) single nucleotide variant Breast-ovarian cancer, familial, susceptibility to, 5 [RCV003991027]|Familial cancer of breast [RCV000457988]|Hereditary cancer-predisposing syndrome [RCV001016287]|not provided [RCV005243235] Chr16:23626307 [GRCh38]
Chr16:23637628 [GRCh37]
Chr16:16p12.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.1759G>A (p.Ala587Thr) single nucleotide variant Familial cancer of breast [RCV000458094]|Familial cancer of breast [RCV000764050]|Hereditary cancer-predisposing syndrome [RCV000563170]|not provided [RCV004767272] Chr16:23630395 [GRCh38]
Chr16:23641716 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2514+9C>T single nucleotide variant Familial cancer of breast [RCV000461761] Chr16:23629631 [GRCh38]
Chr16:23640952 [GRCh37]
Chr16:16p12.2		 likely benign
NM_024675.4(PALB2):c.932_933insC (p.Lys311fs) insertion Breast carcinoma [RCV001554294]|Familial cancer of breast [RCV000469258]|Hereditary cancer-predisposing syndrome [RCV001005051]|not provided [RCV002281094] Chr16:23635613..23635614 [GRCh38]
Chr16:23646934..23646935 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic
NM_024675.4(PALB2):c.1650A>G (p.Lys550=) single nucleotide variant Familial cancer of breast [RCV001482731]|Hereditary cancer-predisposing syndrome [RCV000572338] Chr16:23634896 [GRCh38]
Chr16:23646217 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.3311G>T (p.Gly1104Val) single nucleotide variant Familial cancer of breast [RCV000476813]|Hereditary cancer-predisposing syndrome [RCV004659048] Chr16:23607903 [GRCh38]
Chr16:23619224 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1144A>C (p.Ser382Arg) single nucleotide variant Familial cancer of breast [RCV000476970]|Hereditary cancer-predisposing syndrome [RCV000775933] Chr16:23635402 [GRCh38]
Chr16:23646723 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.2438T>C (p.Ile813Thr) single nucleotide variant Familial cancer of breast [RCV000476976]|Hereditary cancer-predisposing syndrome [RCV000564912]|PALB2-related disorder [RCV004533194]|not provided [RCV000588415] Chr16:23629716 [GRCh38]
Chr16:23641037 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.2275del (p.Gln759fs) deletion not provided [RCV000478873] Chr16:23629879 [GRCh38]
Chr16:23641200 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.1163dup (p.Leu389fs) duplication Familial cancer of breast [RCV000635719]|Hereditary cancer-predisposing syndrome [RCV000568264]|Malignant tumor of breast [RCV001731713]|not provided [RCV000479016] Chr16:23635382..23635383 [GRCh38]
Chr16:23646703..23646704 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic
NM_024675.4(PALB2):c.3213T>C (p.Phe1071=) single nucleotide variant Familial cancer of breast [RCV000553869]|Hereditary cancer-predisposing syndrome [RCV002448659] Chr16:23608001 [GRCh38]
Chr16:23619322 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.742G>C (p.Val248Leu) single nucleotide variant Breast-ovarian cancer, familial, susceptibility to, 5 [RCV005355924]|Familial cancer of breast [RCV000635771]|Hereditary cancer-predisposing syndrome [RCV002383910]|not provided [RCV000478004] Chr16:23635804 [GRCh38]
Chr16:23647125 [GRCh37]
Chr16:16p12.2		 likely benign|uncertain significance
NM_024675.4(PALB2):c.2780A>G (p.Asp927Gly) single nucleotide variant Familial cancer of breast [RCV000530094]|Hereditary cancer-predisposing syndrome [RCV002438179]|not provided [RCV000482542] Chr16:23624063 [GRCh38]
Chr16:23635384 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1619A>G (p.Asn540Ser) single nucleotide variant Familial cancer of breast [RCV003607289]|Hereditary cancer-predisposing syndrome [RCV002402384]|not provided [RCV000486906] Chr16:23634927 [GRCh38]
Chr16:23646248 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2422G>A (p.Gly808Arg) single nucleotide variant Familial cancer of breast [RCV000698122]|Hereditary cancer-predisposing syndrome [RCV000775954]|not provided [RCV000486954] Chr16:23629732 [GRCh38]
Chr16:23641053 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.721A>C (p.Asn241His) single nucleotide variant Familial cancer of breast [RCV000458196]|Hereditary cancer-predisposing syndrome [RCV001192087] Chr16:23635825 [GRCh38]
Chr16:23647146 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.3202-5A>G single nucleotide variant Familial cancer of breast [RCV000458326]|Hereditary cancer-predisposing syndrome [RCV004649160] Chr16:23608017 [GRCh38]
Chr16:23619338 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1706_1707del (p.Lys569fs) deletion Familial cancer of breast [RCV000462145]|Hereditary cancer-predisposing syndrome [RCV000561742] Chr16:23630447..23630448 [GRCh38]
Chr16:23641768..23641769 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic
NM_024675.4(PALB2):c.3124dup (p.Thr1042fs) duplication Familial cancer of breast [RCV000465905]|Hereditary cancer-predisposing syndrome [RCV000775816] Chr16:23614080..23614081 [GRCh38]
Chr16:23625401..23625402 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic
NM_024675.4(PALB2):c.785T>G (p.Leu262Arg) single nucleotide variant Familial cancer of breast [RCV000465982] Chr16:23635761 [GRCh38]
Chr16:23647082 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2328C>A (p.Phe776Leu) single nucleotide variant Familial cancer of breast [RCV000469475]|Fanconi anemia complementation group N [RCV005398628]|Hereditary cancer-predisposing syndrome [RCV004943901] Chr16:23629826 [GRCh38]
Chr16:23641147 [GRCh37]
Chr16:16p12.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.557dup (p.Asn186fs) duplication Breast carcinoma [RCV001554319]|Familial cancer of breast [RCV000469484]|Hereditary cancer-predisposing syndrome [RCV001183458] Chr16:23635988..23635989 [GRCh38]
Chr16:23647309..23647310 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic
NM_024675.4(PALB2):c.1469C>T (p.Pro490Leu) single nucleotide variant Familial cancer of breast [RCV000469529]|Hereditary cancer-predisposing syndrome [RCV004659047] Chr16:23635077 [GRCh38]
Chr16:23646398 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.7G>C (p.Glu3Gln) single nucleotide variant Familial cancer of breast [RCV000469584] Chr16:23641151 [GRCh38]
Chr16:23652472 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1553C>G (p.Ser518Ter) single nucleotide variant Familial cancer of breast [RCV000469612]|Hereditary cancer-predisposing syndrome [RCV001012094]|PALB2-related disorder [RCV004529598] Chr16:23634993 [GRCh38]
Chr16:23646314 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.1103A>G (p.Asn368Ser) single nucleotide variant Familial cancer of breast [RCV000469658]|Hereditary cancer-predisposing syndrome [RCV000563832]|not provided [RCV003153633] Chr16:23635443 [GRCh38]
Chr16:23646764 [GRCh37]
Chr16:16p12.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.3122A>C (p.Lys1041Thr) single nucleotide variant Familial cancer of breast [RCV000635632]|Hereditary cancer-predisposing syndrome [RCV000708730]|not provided [RCV000478421] Chr16:23614083 [GRCh38]
Chr16:23625404 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.2780A>T (p.Asp927Val) single nucleotide variant Familial cancer of breast [RCV000821959]|Hereditary cancer-predisposing syndrome [RCV000774626]|not provided [RCV000478472] Chr16:23624063 [GRCh38]
Chr16:23635384 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.3114-6T>C single nucleotide variant Familial cancer of breast [RCV001078733]|not provided [RCV000482960] Chr16:23614097 [GRCh38]
Chr16:23625418 [GRCh37]
Chr16:16p12.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.2972T>G (p.Val991Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002438180]|not provided [RCV000482961] Chr16:23622993 [GRCh38]
Chr16:23634314 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.661G>A (p.Val221Ile) single nucleotide variant Familial cancer of breast [RCV000462286]|Hereditary breast ovarian cancer syndrome [RCV005355851]|Hereditary cancer-predisposing syndrome [RCV000569599]|not provided [RCV003324751] Chr16:23635885 [GRCh38]
Chr16:23647206 [GRCh37]
Chr16:16p12.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.1871T>C (p.Leu624Pro) single nucleotide variant Familial cancer of breast [RCV000462381] Chr16:23630283 [GRCh38]
Chr16:23641604 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.224_228del (p.Lys75fs) microsatellite Familial cancer of breast [RCV001238319]|Hereditary cancer-predisposing syndrome [RCV001178087]|not provided [RCV000487278] Chr16:23636318..23636322 [GRCh38]
Chr16:23647639..23647643 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic
NM_024675.4(PALB2):c.1337A>G (p.Asp446Gly) single nucleotide variant Familial cancer of breast [RCV000798423]|Hereditary cancer-predisposing syndrome [RCV001010834]|not provided [RCV000478568] Chr16:23635209 [GRCh38]
Chr16:23646530 [GRCh37]
Chr16:16p12.2		 likely benign|uncertain significance
NM_024675.4(PALB2):c.2835-22dup duplication Familial cancer of breast [RCV002063722]|Hereditary cancer-predisposing syndrome [RCV001178850]|not specified [RCV000478678] Chr16:23623147..23623148 [GRCh38]
Chr16:23634468..23634469 [GRCh37]
Chr16:16p12.2		 benign|likely benign|uncertain significance
NM_024675.4(PALB2):c.82T>A (p.Tyr28Asn) single nucleotide variant Familial cancer of breast [RCV000458643]|Hereditary cancer-predisposing syndrome [RCV000564398] Chr16:23638096 [GRCh38]
Chr16:23649417 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2028T>G (p.Ile676Met) single nucleotide variant Familial cancer of breast [RCV000462496]|Hereditary cancer-predisposing syndrome [RCV001014131] Chr16:23630126 [GRCh38]
Chr16:23641447 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.3351-2A>G single nucleotide variant Familial cancer of breast [RCV000466376]|Hereditary cancer-predisposing syndrome [RCV001020064]|not provided [RCV004721374] Chr16:23603671 [GRCh38]
Chr16:23614992 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic
NM_024675.4(PALB2):c.2678A>C (p.Asp893Ala) single nucleotide variant Familial cancer of breast [RCV000470081] Chr16:23626306 [GRCh38]
Chr16:23637627 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.813T>G (p.Ser271Arg) single nucleotide variant Familial cancer of breast [RCV000477612] Chr16:23635733 [GRCh38]
Chr16:23647054 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2634_2635del (p.Arg879fs) deletion Familial cancer of breast [RCV002525797]|Hereditary cancer-predisposing syndrome [RCV002455916]|not provided [RCV000480125] Chr16:23626349..23626350 [GRCh38]
Chr16:23637670..23637671 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic
NM_024675.4(PALB2):c.2749-16_2749-14del microsatellite Familial cancer of breast [RCV000662767]|Familial pancreatic carcinoma [RCV005365354]|Hereditary cancer-predisposing syndrome [RCV000580010]|not specified [RCV000478938] Chr16:23624108..23624110 [GRCh38]
Chr16:23635429..23635431 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.2266T>C (p.Cys756Arg) single nucleotide variant Familial cancer of breast [RCV001222102]|not provided [RCV000478990] Chr16:23629888 [GRCh38]
Chr16:23641209 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.-19dup duplication not specified [RCV000479020] Chr16:23641175..23641176 [GRCh38]
Chr16:23652496..23652497 [GRCh37]
Chr16:16p12.2		 likely benign
NM_024675.4(PALB2):c.3490T>C (p.Trp1164Arg) single nucleotide variant Familial cancer of breast [RCV001853731]|Hereditary cancer-predisposing syndrome [RCV000568566]|not specified [RCV003994024] Chr16:23603530 [GRCh38]
Chr16:23614851 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2494C>T (p.His832Tyr) single nucleotide variant Familial cancer of breast [RCV000635698]|Hereditary cancer-predisposing syndrome [RCV000568602]|not specified [RCV001174939] Chr16:23629660 [GRCh38]
Chr16:23640981 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NC_000016.10:g.(?_23603459)_(23626397_?)del deletion Familial cancer of breast [RCV000168323] Chr16:23603459..23626397 [GRCh38]
Chr16:23614780..23637718 [GRCh37]
Chr16:16p12.2		 pathogenic
NC_000016.10:g.(?_23603459)_(23608012_?)del deletion Familial cancer of breast [RCV000205329] Chr16:23603459..23608012 [GRCh38]
Chr16:23614780..23619333 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.3(PALB2):c.2325dup (p.Phe776Ilefs) duplication not provided [RCV000508431] Chr16:23629829 [GRCh38]
Chr16:23641150 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.1753del (p.Asp585fs) deletion Familial cancer of breast [RCV000823680]|Hereditary cancer-predisposing syndrome [RCV003362804]|not provided [RCV000506134] Chr16:23630401 [GRCh38]
Chr16:23641722 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic
NM_024675.3(PALB2):c.2642_2645dup (p.Cys882Trpfs) duplication not provided [RCV000506147] Chr16:23626339..23626342 [GRCh38]
Chr16:23637660..23637663 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.571C>A (p.Pro191Thr) single nucleotide variant Familial cancer of breast [RCV001225933]|Hereditary cancer-predisposing syndrome [RCV000561187]|not provided [RCV001558217]|not specified [RCV000506516] Chr16:23635975 [GRCh38]
Chr16:23647296 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1778A>G (p.His593Arg) single nucleotide variant Familial cancer of breast [RCV000698252]|Hereditary cancer-predisposing syndrome [RCV001013144]|not provided [RCV000759180] Chr16:23630376 [GRCh38]
Chr16:23641697 [GRCh37]
Chr16:16p12.2		 uncertain significance
GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3 copy number gain See cases [RCV000511622] Chr16:9273328..89548493 [GRCh37]
Chr16:16p13.2-q24.3		 uncertain significance
NM_024675.4(PALB2):c.3517G>T (p.Ala1173Ser) single nucleotide variant Familial cancer of breast [RCV000560068]|Hereditary cancer-predisposing syndrome [RCV004649179]|not provided [RCV004719846]|not specified [RCV000507124] Chr16:23603503 [GRCh38]
Chr16:23614824 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.62T>G (p.Leu21Ter) single nucleotide variant Familial cancer of breast [RCV000535566]|Hereditary cancer-predisposing syndrome [RCV000575810]|not provided [RCV000507280] Chr16:23638116 [GRCh38]
Chr16:23649437 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic
NM_024675.4(PALB2):c.2298dup (p.Val767fs) duplication Familial cancer of breast [RCV001241216]|not provided [RCV000507324] Chr16:23629855..23629856 [GRCh38]
Chr16:23641176..23641177 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic
GRCh37/hg19 16p12.2-11.2(chr16:22718350-28858721)x4 copy number gain See cases [RCV000511587] Chr16:22718350..28858721 [GRCh37]
Chr16:16p12.2-11.2		 pathogenic
NM_024675.4(PALB2):c.1631A>G (p.Glu544Gly) single nucleotide variant Familial cancer of breast [RCV000698109]|Hereditary cancer-predisposing syndrome [RCV003303163] Chr16:23634915 [GRCh38]
Chr16:23646236 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2179G>C (p.Ala727Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000570354] Chr16:23629975 [GRCh38]
Chr16:23641296 [GRCh37]
Chr16:16p12.2		 uncertain significance
GRCh37/hg19 16p12.2-11.2(chr16:21596299-30399167)x1 copy number loss See cases [RCV000511271] Chr16:21596299..30399167 [GRCh37]
Chr16:16p12.2-11.2		 pathogenic
NM_024675.4(PALB2):c.797C>T (p.Pro266Leu) single nucleotide variant Familial cancer of breast [RCV001858208]|Hereditary cancer-predisposing syndrome [RCV000561813] Chr16:23635749 [GRCh38]
Chr16:23647070 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2857G>A (p.Asp953Asn) single nucleotide variant Familial cancer of breast [RCV001858133]|Hereditary cancer-predisposing syndrome [RCV000561887] Chr16:23623108 [GRCh38]
Chr16:23634429 [GRCh37]
Chr16:16p12.2		 uncertain significance
maternal UPD(16p) complex Hemimegalencephaly [RCV000494707] Chr16:1280042..33710558 [GRCh37]
Chr16:16p13.3-11.2		 pathogenic
NM_024675.4(PALB2):c.2913C>T (p.Gly971=) single nucleotide variant Familial cancer of breast [RCV000531355]|Hereditary cancer-predisposing syndrome [RCV001016945] Chr16:23623052 [GRCh38]
Chr16:23634373 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.3(PALB2):c.3350+1090_*1278dup duplication Familial cancer of breast [RCV000495500] Chr16:23602181..23606774 [GRCh38]
Chr16:23613502..23618095 [GRCh37]
Chr16:16p12.2		 likely pathogenic
NM_024675.4(PALB2):c.1232G>A (p.Arg411Lys) single nucleotide variant Familial cancer of breast [RCV000699441]|Hereditary cancer-predisposing syndrome [RCV003302758]|not provided [RCV000524039] Chr16:23635314 [GRCh38]
Chr16:23646635 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.3436C>T (p.Gln1146Ter) single nucleotide variant Familial cancer of breast [RCV000533343]|Hereditary cancer-predisposing syndrome [RCV002456088] Chr16:23603584 [GRCh38]
Chr16:23614905 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.1051A>G (p.Thr351Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000572475] Chr16:23635495 [GRCh38]
Chr16:23646816 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1424del (p.Ser474_Ser475insTer) deletion Familial cancer of breast [RCV000537968]|Hereditary cancer-predisposing syndrome [RCV002395342] Chr16:23635122 [GRCh38]
Chr16:23646443 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.1726A>T (p.Ser576Cys) single nucleotide variant Familial cancer of breast [RCV001858165]|Hereditary cancer-predisposing syndrome [RCV000574954] Chr16:23630428 [GRCh38]
Chr16:23641749 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.187C>G (p.Leu63Val) single nucleotide variant Familial cancer of breast [RCV001858327]|Hereditary cancer-predisposing syndrome [RCV000575025] Chr16:23637874 [GRCh38]
Chr16:23649195 [GRCh37]
Chr16:16p12.2		 likely benign|uncertain significance
NM_024675.4(PALB2):c.2892A>C (p.Gly964=) single nucleotide variant Familial cancer of breast [RCV000541934] Chr16:23623073 [GRCh38]
Chr16:23634394 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.1648A>G (p.Lys550Glu) single nucleotide variant Familial cancer of breast [RCV001051273]|Hereditary cancer-predisposing syndrome [RCV000569675] Chr16:23634898 [GRCh38]
Chr16:23646219 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1875A>G (p.Glu625=) single nucleotide variant Familial cancer of breast [RCV000556101]|Hereditary cancer-predisposing syndrome [RCV002413487] Chr16:23630279 [GRCh38]
Chr16:23641600 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.531G>A (p.Lys177=) single nucleotide variant Familial cancer of breast [RCV000873953]|Hereditary cancer-predisposing syndrome [RCV000572729] Chr16:23636015 [GRCh38]
Chr16:23647336 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.1833C>A (p.Asp611Glu) single nucleotide variant Familial cancer of breast [RCV000801789]|Hereditary cancer-predisposing syndrome [RCV000575169]|not provided [RCV000586706] Chr16:23630321 [GRCh38]
Chr16:23641642 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.3138G>A (p.Leu1046=) single nucleotide variant Familial cancer of breast [RCV001456932]|Hereditary cancer-predisposing syndrome [RCV000575172]|not provided [RCV000929524] Chr16:23614067 [GRCh38]
Chr16:23625388 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.505C>G (p.Leu169Val) single nucleotide variant Familial cancer of breast [RCV001345557]|Hereditary cancer-predisposing syndrome [RCV000575213] Chr16:23636041 [GRCh38]
Chr16:23647362 [GRCh37]
Chr16:16p12.2		 likely benign|uncertain significance
NM_024675.4(PALB2):c.2255_2267dup (p.Cys756fs) duplication Familial cancer of breast [RCV003316741]|Hereditary cancer-predisposing syndrome [RCV000575223] Chr16:23629886..23629887 [GRCh38]
Chr16:23641207..23641208 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.2197ACT[1] (p.Thr734del) microsatellite Familial cancer of breast [RCV000662605]|Hereditary cancer-predisposing syndrome [RCV000575293] Chr16:23629952..23629954 [GRCh38]
Chr16:23641273..23641275 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1073C>A (p.Pro358His) single nucleotide variant Familial cancer of breast [RCV000635616]|Hereditary cancer-predisposing syndrome [RCV000572759]|not provided [RCV000985882] Chr16:23635473 [GRCh38]
Chr16:23646794 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1278G>A (p.Glu426=) single nucleotide variant Familial cancer of breast [RCV000554872]|Hereditary cancer-predisposing syndrome [RCV000572799]|Malignant tumor of breast [RCV001356740] Chr16:23635268 [GRCh38]
Chr16:23646589 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.1537A>C (p.Thr513Pro) single nucleotide variant Familial cancer of breast [RCV001202792]|Hereditary cancer-predisposing syndrome [RCV000575420] Chr16:23635009 [GRCh38]
Chr16:23646330 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.3074C>T (p.Ala1025Val) single nucleotide variant Familial cancer of breast [RCV000635630]|Familial pancreatic carcinoma [RCV005357708]|Hereditary cancer-predisposing syndrome [RCV000575426] Chr16:23621401 [GRCh38]
Chr16:23632722 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2864G>A (p.Ser955Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000575512] Chr16:23623101 [GRCh38]
Chr16:23634422 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2514+20T>C single nucleotide variant Familial cancer of breast [RCV002531546]|not specified [RCV000601708] Chr16:23629620 [GRCh38]
Chr16:23640941 [GRCh37]
Chr16:16p12.2		 likely benign
NM_024675.4(PALB2):c.3066G>C (p.Met1022Ile) single nucleotide variant Familial cancer of breast [RCV000534411]|Hereditary cancer-predisposing syndrome [RCV002448658] Chr16:23621409 [GRCh38]
Chr16:23632730 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.44A>T (p.Glu15Val) single nucleotide variant Familial cancer of breast [RCV001058727]|Hereditary cancer-predisposing syndrome [RCV000573021] Chr16:23641114 [GRCh38]
Chr16:23652435 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2214C>T (p.Gly738=) single nucleotide variant Familial cancer of breast [RCV001415606]|Hereditary cancer-predisposing syndrome [RCV000573109] Chr16:23629940 [GRCh38]
Chr16:23641261 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.2115T>C (p.Tyr705=) single nucleotide variant Familial cancer of breast [RCV001396727]|Hereditary cancer-predisposing syndrome [RCV000575536] Chr16:23630039 [GRCh38]
Chr16:23641360 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.2835-5C>T single nucleotide variant Familial cancer of breast [RCV002060484]|Hereditary cancer-predisposing syndrome [RCV000575583] Chr16:23623135 [GRCh38]
Chr16:23634456 [GRCh37]
Chr16:16p12.2		 likely benign|uncertain significance
NM_024675.4(PALB2):c.2974A>G (p.Met992Val) single nucleotide variant Familial cancer of breast [RCV001853730]|Hereditary cancer-predisposing syndrome [RCV000575699] Chr16:23622991 [GRCh38]
Chr16:23634312 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.394G>C (p.Val132Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000575712] Chr16:23636152 [GRCh38]
Chr16:23647473 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2276A>G (p.Gln759Arg) single nucleotide variant Familial cancer of breast [RCV005091394]|Hereditary cancer-predisposing syndrome [RCV000566619] Chr16:23629878 [GRCh38]
Chr16:23641199 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1082C>G (p.Thr361Ser) single nucleotide variant Familial cancer of breast [RCV000557004]|Hereditary cancer-predisposing syndrome [RCV005384760] Chr16:23635464 [GRCh38]
Chr16:23646785 [GRCh37]
Chr16:16p12.2		 likely benign|uncertain significance
NM_024675.4(PALB2):c.2042A>C (p.Lys681Thr) single nucleotide variant Familial cancer of breast [RCV001035439]|Hereditary cancer-predisposing syndrome [RCV000570278] Chr16:23630112 [GRCh38]
Chr16:23641433 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.22C>T (p.Pro8Ser) single nucleotide variant Familial cancer of breast [RCV001858135]|Hereditary cancer-predisposing syndrome [RCV000575831] Chr16:23641136 [GRCh38]
Chr16:23652457 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2656T>A (p.Cys886Ser) single nucleotide variant Familial cancer of breast [RCV000635652]|Hereditary cancer-predisposing syndrome [RCV000575941] Chr16:23626328 [GRCh38]
Chr16:23637649 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.620del (p.Pro207fs) deletion Familial cancer of breast [RCV000576777]|Hereditary cancer-predisposing syndrome [RCV003159970]|not provided [RCV001008192] Chr16:23635926 [GRCh38]
Chr16:23647247 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic
NM_024675.4(PALB2):c.3421G>C (p.Asp1141His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000579489] Chr16:23603599 [GRCh38]
Chr16:23614920 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1031del (p.Asn344fs) deletion Familial cancer of breast [RCV000690752]|Hereditary cancer-predisposing syndrome [RCV000570666] Chr16:23635515 [GRCh38]
Chr16:23646836 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.21G>A (p.Lys7=) single nucleotide variant Familial cancer of breast [RCV000636032]|Hereditary cancer-predisposing syndrome [RCV000573279]|Malignant tumor of breast [RCV001357736]|not provided [RCV004569130] Chr16:23641137 [GRCh38]
Chr16:23652458 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.386C>G (p.Pro129Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000573367] Chr16:23636160 [GRCh38]
Chr16:23647481 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1897A>G (p.Lys633Glu) single nucleotide variant Familial cancer of breast [RCV000689600]|Hereditary cancer-predisposing syndrome [RCV000576039] Chr16:23630257 [GRCh38]
Chr16:23641578 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.945G>T (p.Leu315=) single nucleotide variant Familial cancer of breast [RCV002060405]|Hereditary cancer-predisposing syndrome [RCV000576063] Chr16:23635601 [GRCh38]
Chr16:23646922 [GRCh37]
Chr16:16p12.2		 likely benign
NM_024675.4(PALB2):c.38A>C (p.Glu13Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000579852] Chr16:23641120 [GRCh38]
Chr16:23652441 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.223A>T (p.Lys75Ter) single nucleotide variant Breast-ovarian cancer, familial, susceptibility to, 5 [RCV005357565]|Familial cancer of breast [RCV000557714]|Hereditary cancer-predisposing syndrome [RCV001014881]|not provided [RCV001008028] Chr16:23636323 [GRCh38]
Chr16:23647644 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic
NM_024675.4(PALB2):c.1176A>G (p.Glu392=) single nucleotide variant Familial cancer of breast [RCV001423280]|Hereditary cancer-predisposing syndrome [RCV000570728]|not specified [RCV003321674] Chr16:23635370 [GRCh38]
Chr16:23646691 [GRCh37]
Chr16:16p12.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_024675.4(PALB2):c.1990A>C (p.Met664Leu) single nucleotide variant Familial cancer of breast [RCV000535309] Chr16:23630164 [GRCh38]
Chr16:23641485 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1204C>T (p.Leu402Phe) single nucleotide variant Familial cancer of breast [RCV001858212]|Hereditary cancer-predisposing syndrome [RCV000573520] Chr16:23635342 [GRCh38]
Chr16:23646663 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.829_832del (p.His276_Asp277insTer) deletion Familial cancer of breast [RCV003451337]|Hereditary breast ovarian cancer syndrome [RCV000590429] Chr16:23635714..23635717 [GRCh38]
Chr16:23647035..23647038 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic
NM_024675.4(PALB2):c.1081A>T (p.Thr361Ser) single nucleotide variant Familial cancer of breast [RCV000822321]|Hereditary cancer-predisposing syndrome [RCV000570839] Chr16:23635465 [GRCh38]
Chr16:23646786 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1125A>C (p.Leu375=) single nucleotide variant Breast-ovarian cancer, familial, susceptibility to, 5 [RCV005357654]|Familial cancer of breast [RCV000931888]|Hereditary cancer-predisposing syndrome [RCV000570843]|not specified [RCV000611012] Chr16:23635421 [GRCh38]
Chr16:23646742 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.1999_2001dup (p.Glu667dup) duplication Familial cancer of breast [RCV001359579]|Hereditary cancer-predisposing syndrome [RCV000570879] Chr16:23630152..23630153 [GRCh38]
Chr16:23641473..23641474 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.3021G>A (p.Met1007Ile) single nucleotide variant Familial cancer of breast [RCV000558068]|Hereditary cancer-predisposing syndrome [RCV002438337]|not provided [RCV001775855] Chr16:23621454 [GRCh38]
Chr16:23632775 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.109-7C>A single nucleotide variant Familial cancer of breast [RCV002066696]|Hereditary cancer-predisposing syndrome [RCV003584674]|not specified [RCV000605132] Chr16:23637959 [GRCh38]
Chr16:23649280 [GRCh37]
Chr16:16p12.2		 likely benign
NM_024675.4(PALB2):c.1562C>T (p.Thr521Ile) single nucleotide variant Familial cancer of breast [RCV001304806]|Hereditary cancer-predisposing syndrome [RCV000571175] Chr16:23634984 [GRCh38]
Chr16:23646305 [GRCh37]
Chr16:16p12.2		 likely benign|uncertain significance
NM_024675.4(PALB2):c.3121A>G (p.Lys1041Glu) single nucleotide variant Familial cancer of breast [RCV001853734]|Hereditary cancer-predisposing syndrome [RCV000573740] Chr16:23614084 [GRCh38]
Chr16:23625405 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2158A>C (p.Thr720Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000573754] Chr16:23629996 [GRCh38]
Chr16:23641317 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.734_735dup (p.Thr246fs) duplication Familial cancer of breast [RCV003451272]|Hereditary cancer-predisposing syndrome [RCV000573756] Chr16:23635810..23635811 [GRCh38]
Chr16:23647131..23647132 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.839del (p.Asn280fs) deletion Familial cancer of breast [RCV001865724]|Hereditary cancer-predisposing syndrome [RCV000573816]|PALB2-related disorder [RCV004530600]|not provided [RCV001030181] Chr16:23635707 [GRCh38]
Chr16:23647028 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.1461C>A (p.Val487=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000571212] Chr16:23635085 [GRCh38]
Chr16:23646406 [GRCh37]
Chr16:16p12.2		 likely benign
NM_024675.4(PALB2):c.860T>C (p.Val287Ala) single nucleotide variant Familial cancer of breast [RCV000558642]|Hereditary cancer-predisposing syndrome [RCV001805159] Chr16:23635686 [GRCh38]
Chr16:23647007 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.313G>C (p.Glu105Gln) single nucleotide variant Familial cancer of breast [RCV001240857]|Hereditary cancer-predisposing syndrome [RCV000573997] Chr16:23636233 [GRCh38]
Chr16:23647554 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2911G>C (p.Gly971Arg) single nucleotide variant Familial cancer of breast [RCV000700356]|Hereditary cancer-predisposing syndrome [RCV000574054] Chr16:23623054 [GRCh38]
Chr16:23634375 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.472del (p.Gln158fs) deletion Hereditary cancer-predisposing syndrome [RCV003278570] Chr16:23636074 [GRCh38]
Chr16:23647395 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.152C>A (p.Thr51Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003278579] Chr16:23637909 [GRCh38]
Chr16:23649230 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2680G>C (p.Val894Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003278580] Chr16:23626304 [GRCh38]
Chr16:23637625 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1238C>G (p.Thr413Arg) single nucleotide variant Familial cancer of breast [RCV000635666]|Hereditary cancer-predisposing syndrome [RCV001010492]|not provided [RCV000586513] Chr16:23635308 [GRCh38]
Chr16:23646629 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2874A>G (p.Gln958=) single nucleotide variant Familial cancer of breast [RCV002060404]|Hereditary cancer-predisposing syndrome [RCV000571596] Chr16:23623091 [GRCh38]
Chr16:23634412 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.1677del (p.Gln559_Val560insTer) deletion Familial cancer of breast [RCV001067572]|Hereditary cancer-predisposing syndrome [RCV000571605]|not provided [RCV003320695] Chr16:23634869 [GRCh38]
Chr16:23646190 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic
NM_024675.4(PALB2):c.1480A>C (p.Thr494Pro) single nucleotide variant Familial cancer of breast [RCV003767129]|Hereditary cancer-predisposing syndrome [RCV000571709] Chr16:23635066 [GRCh38]
Chr16:23646387 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.192A>G (p.Ser64=) single nucleotide variant Fanconi anemia complementation group N [RCV005398900]|Hereditary cancer-predisposing syndrome [RCV000574144] Chr16:23637869 [GRCh38]
Chr16:23649190 [GRCh37]
Chr16:16p12.2		 likely benign
NM_024675.4(PALB2):c.2724A>T (p.Lys908Asn) single nucleotide variant Breast-ovarian cancer, familial, susceptibility to, 5 [RCV005357836]|Familial cancer of breast [RCV000635620]|Hereditary cancer-predisposing syndrome [RCV003162841] Chr16:23626260 [GRCh38]
Chr16:23637581 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2120C>T (p.Pro707Leu) single nucleotide variant Familial cancer of breast [RCV000635623]|Hereditary cancer-predisposing syndrome [RCV001014519] Chr16:23630034 [GRCh38]
Chr16:23641355 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.899del (p.Thr300fs) deletion Familial cancer of breast [RCV000635627] Chr16:23635647 [GRCh38]
Chr16:23646968 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.2869A>T (p.Lys957Ter) single nucleotide variant Familial cancer of breast [RCV000635650] Chr16:23623096 [GRCh38]
Chr16:23634417 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.2834+5G>A single nucleotide variant Familial cancer of breast [RCV000635658]|Hereditary cancer-predisposing syndrome [RCV001016729]|PALB2-related disorder [RCV004723006] Chr16:23624004 [GRCh38]
Chr16:23635325 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.1908G>C (p.Glu636Asp) single nucleotide variant Familial cancer of breast [RCV000635664]|Hereditary cancer-predisposing syndrome [RCV002406361] Chr16:23630246 [GRCh38]
Chr16:23641567 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1988G>T (p.Arg663Leu) single nucleotide variant Familial cancer of breast [RCV000635668]|Hereditary cancer-predisposing syndrome [RCV001013921] Chr16:23630166 [GRCh38]
Chr16:23641487 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.921A>G (p.Lys307=) single nucleotide variant Familial cancer of breast [RCV000635669] Chr16:23635625 [GRCh38]
Chr16:23646946 [GRCh37]
Chr16:16p12.2		 likely benign|uncertain significance
NM_024675.4(PALB2):c.2137C>T (p.Pro713Ser) single nucleotide variant Familial cancer of breast [RCV000635680]|Hereditary cancer-predisposing syndrome [RCV002424395] Chr16:23630017 [GRCh38]
Chr16:23641338 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2531T>G (p.Leu844Arg) single nucleotide variant Familial cancer of breast [RCV000635685]|Hereditary cancer-predisposing syndrome [RCV004944038] Chr16:23629259 [GRCh38]
Chr16:23640580 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.3523C>T (p.Gln1175Ter) single nucleotide variant Familial cancer of breast [RCV000635687]|Hereditary cancer-predisposing syndrome [RCV002334080]|not provided [RCV001702535] Chr16:23603497 [GRCh38]
Chr16:23614818 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.2673_2674delinsGA (p.Cys891_Glu892delinsTrpLys) indel Familial cancer of breast [RCV000635713] Chr16:23626310..23626311 [GRCh38]
Chr16:23637631..23637632 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2835-5C>G single nucleotide variant Familial cancer of breast [RCV000635740] Chr16:23623135 [GRCh38]
Chr16:23634456 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2207C>T (p.Ala736Val) single nucleotide variant Breast and/or ovarian cancer [RCV003492122]|Familial cancer of breast [RCV000635751]|Hereditary cancer-predisposing syndrome [RCV002424397] Chr16:23629947 [GRCh38]
Chr16:23641268 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.841A>G (p.Ile281Val) single nucleotide variant Familial cancer of breast [RCV000635759]|Hereditary cancer-predisposing syndrome [RCV001017739] Chr16:23635705 [GRCh38]
Chr16:23647026 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.3415A>T (p.Ile1139Phe) single nucleotide variant Familial cancer of breast [RCV000635781]|Hereditary cancer-predisposing syndrome [RCV001182081] Chr16:23603605 [GRCh38]
Chr16:23614926 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2804C>G (p.Ala935Gly) single nucleotide variant Familial cancer of breast [RCV000635784]|Familial cancer of breast [RCV002492981]|Hereditary cancer-predisposing syndrome [RCV001016626]|Pancreatic cancer, susceptibility to, 3 [RCV005357838]|not provided [RCV003156270] Chr16:23624039 [GRCh38]
Chr16:23635360 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1984A>T (p.Lys662Ter) single nucleotide variant Familial cancer of breast [RCV000635787]|Hereditary cancer-predisposing syndrome [RCV001190673] Chr16:23630170 [GRCh38]
Chr16:23641491 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.2345C>A (p.Pro782Gln) single nucleotide variant Familial cancer of breast [RCV000635803]|Hereditary cancer-predisposing syndrome [RCV002424398] Chr16:23629809 [GRCh38]
Chr16:23641130 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.2832C>G (p.Ile944Met) single nucleotide variant Familial cancer of breast [RCV000635805]|Hereditary cancer-predisposing syndrome [RCV002438683] Chr16:23624011 [GRCh38]
Chr16:23635332 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.388C>A (p.His130Asn) single nucleotide variant Familial cancer of breast [RCV000635806] Chr16:23636158 [GRCh38]
Chr16:23647479 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2267G>A (p.Cys756Tyr) single nucleotide variant Familial cancer of breast [RCV000635807]|Fanconi anemia complementation group N [RCV003133422]|Hereditary cancer-predisposing syndrome [RCV001014983]|not provided [RCV001030292] Chr16:23629887 [GRCh38]
Chr16:23641208 [GRCh37]
Chr16:16p12.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.3110T>C (p.Ile1037Thr) single nucleotide variant Familial cancer of breast [RCV000693855]|Hereditary cancer-predisposing syndrome [RCV000571745] Chr16:23621365 [GRCh38]
Chr16:23632686 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.3500C>T (p.Thr1167Ile) single nucleotide variant Familial cancer of breast [RCV000635737]|Fanconi anemia complementation group N [RCV005018978]|Hereditary cancer-predisposing syndrome [RCV000571848]|not provided [RCV000756459] Chr16:23603520 [GRCh38]
Chr16:23614841 [GRCh37]
Chr16:16p12.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.1183del (p.Ser395fs) deletion Familial cancer of breast [RCV001388322]|Fanconi anemia complementation group N [RCV005018970]|Hereditary cancer-predisposing syndrome [RCV000574408]|not provided [RCV000657391] Chr16:23635363 [GRCh38]
Chr16:23646684 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic
NM_024675.4(PALB2):c.280G>C (p.Glu94Gln) single nucleotide variant Familial cancer of breast [RCV001853787]|Hereditary cancer-predisposing syndrome [RCV000566283] Chr16:23636266 [GRCh38]
Chr16:23647587 [GRCh37]
Chr16:16p12.2		 likely benign|uncertain significance
NM_024675.4(PALB2):c.882A>G (p.Lys294=) single nucleotide variant Familial cancer of breast [RCV001479285]|Hereditary cancer-predisposing syndrome [RCV000777324]|not specified [RCV000601015] Chr16:23635664 [GRCh38]
Chr16:23646985 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.1874A>G (p.Glu625Gly) single nucleotide variant Familial cancer of breast [RCV000635838] Chr16:23630280 [GRCh38]
Chr16:23641601 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1448C>A (p.Ser483Ter) single nucleotide variant Familial cancer of breast [RCV000635841]|Hereditary cancer-predisposing syndrome [RCV002388041]|not provided [RCV001591416] Chr16:23635098 [GRCh38]
Chr16:23646419 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.2612A>T (p.Asp871Val) single nucleotide variant Familial cancer of breast [RCV000635870]|Hereditary cancer-predisposing syndrome [RCV002438684] Chr16:23626372 [GRCh38]
Chr16:23637693 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.3104T>C (p.Ile1035Thr) single nucleotide variant Familial cancer of breast [RCV000635879]|Hereditary cancer-predisposing syndrome [RCV001018654] Chr16:23621371 [GRCh38]
Chr16:23632692 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2150A>T (p.Asp717Val) single nucleotide variant Familial cancer of breast [RCV000635881]|Hereditary cancer-predisposing syndrome [RCV002424399] Chr16:23630004 [GRCh38]
Chr16:23641325 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.846A>T (p.Arg282Ser) single nucleotide variant Familial cancer of breast [RCV000635901]|Hereditary cancer-predisposing syndrome [RCV002448970] Chr16:23635700 [GRCh38]
Chr16:23647021 [GRCh37]
Chr16:16p12.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.2430_2431del (p.Pro811fs) deletion Familial cancer of breast [RCV000635908]|Familial cancer of breast [RCV002507076]|not provided [RCV000657454] Chr16:23629723..23629724 [GRCh38]
Chr16:23641044..23641045 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic
NM_024675.4(PALB2):c.1362del (p.Asn455fs) deletion Familial cancer of breast [RCV000635921] Chr16:23635184 [GRCh38]
Chr16:23646505 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.821C>G (p.Thr274Ser) single nucleotide variant Familial cancer of breast [RCV000635926]|Hereditary cancer-predisposing syndrome [RCV002406364] Chr16:23635725 [GRCh38]
Chr16:23647046 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.932A>G (p.Lys311Arg) single nucleotide variant Familial cancer of breast [RCV000635946]|Hereditary cancer-predisposing syndrome [RCV001019174]|not provided [RCV001030189]|not specified [RCV001194138] Chr16:23635614 [GRCh38]
Chr16:23646935 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.2733C>A (p.Thr911=) single nucleotide variant Familial cancer of breast [RCV001426534]|Hereditary cancer-predisposing syndrome [RCV000772827] Chr16:23626251 [GRCh38]
Chr16:23637572 [GRCh37]
Chr16:16p12.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.3009C>T (p.Asn1003=) single nucleotide variant Familial cancer of breast [RCV000635971] Chr16:23621466 [GRCh38]
Chr16:23632787 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.244T>C (p.Leu82=) single nucleotide variant Familial cancer of breast [RCV000635996] Chr16:23636302 [GRCh38]
Chr16:23647623 [GRCh37]
Chr16:16p12.2		 likely benign
NM_024675.4(PALB2):c.3351-6T>C single nucleotide variant Familial cancer of breast [RCV000636000]|Hereditary cancer-predisposing syndrome [RCV001525532] Chr16:23603675 [GRCh38]
Chr16:23614996 [GRCh37]
Chr16:16p12.2		 likely benign|uncertain significance
NM_024675.4(PALB2):c.792C>T (p.His264=) single nucleotide variant Familial cancer of breast [RCV000636001]|Hereditary cancer-predisposing syndrome [RCV002420708]|not specified [RCV005231209] Chr16:23635754 [GRCh38]
Chr16:23647075 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.164A>T (p.Gln55Leu) single nucleotide variant Familial cancer of breast [RCV000559691] Chr16:23637897 [GRCh38]
Chr16:23649218 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2682A>G (p.Val894=) single nucleotide variant Familial cancer of breast [RCV002526793]|Hereditary cancer-predisposing syndrome [RCV000572031] Chr16:23626302 [GRCh38]
Chr16:23637623 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.311C>T (p.Pro104Leu) single nucleotide variant Familial cancer of breast [RCV000635862]|Hereditary cancer-predisposing syndrome [RCV000574476] Chr16:23636235 [GRCh38]
Chr16:23647556 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.109-5T>C single nucleotide variant Familial cancer of breast [RCV001030121]|Hereditary cancer-predisposing syndrome [RCV001017270]|not provided [RCV001706691] Chr16:23637957 [GRCh38]
Chr16:23649278 [GRCh37]
Chr16:16p12.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.109-10TC[3] microsatellite Familial cancer of breast [RCV000636014] Chr16:23637958..23637959 [GRCh38]
Chr16:23649279..23649280 [GRCh37]
Chr16:16p12.2		 likely benign
NM_024675.4(PALB2):c.211+10G>A single nucleotide variant Familial cancer of breast [RCV000636017] Chr16:23637840 [GRCh38]
Chr16:23649161 [GRCh37]
Chr16:16p12.2		 likely benign
NM_024675.4(PALB2):c.1686G>A (p.Gly562=) single nucleotide variant Familial cancer of breast [RCV000636034]|Hereditary cancer-predisposing syndrome [RCV001012708] Chr16:23630468 [GRCh38]
Chr16:23641789 [GRCh37]
Chr16:16p12.2		 likely benign
NM_024675.4(PALB2):c.2748+8G>A single nucleotide variant Breast-ovarian cancer, familial, susceptibility to, 5 [RCV005357839]|Familial cancer of breast [RCV000636047]|Hereditary cancer-predisposing syndrome [RCV001182085] Chr16:23626228 [GRCh38]
Chr16:23637549 [GRCh37]
Chr16:16p12.2		 likely benign|uncertain significance
NM_024675.4(PALB2):c.2953T>C (p.Ser985Pro) single nucleotide variant Familial cancer of breast [RCV000635674]|Hereditary cancer-predisposing syndrome [RCV000572069] Chr16:23623012 [GRCh38]
Chr16:23634333 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.513G>A (p.Leu171=) single nucleotide variant Familial cancer of breast [RCV001504546]|Hereditary cancer-predisposing syndrome [RCV000574703] Chr16:23636033 [GRCh38]
Chr16:23647354 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.3515T>C (p.Leu1172Pro) single nucleotide variant Familial cancer of breast [RCV001853729]|Hereditary cancer-predisposing syndrome [RCV000574725] Chr16:23603505 [GRCh38]
Chr16:23614826 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2038G>A (p.Gly680Arg) single nucleotide variant Familial cancer of breast [RCV000541413] Chr16:23630116 [GRCh38]
Chr16:23641437 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.108+2T>G single nucleotide variant Familial cancer of breast [RCV003316941] Chr16:23638068 [GRCh38]
Chr16:23649389 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic
NM_024675.4(PALB2):c.945_954del (p.Pro316fs) deletion Familial cancer of breast [RCV003316967] Chr16:23635592..23635601 [GRCh38]
Chr16:23646913..23646922 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.1597A>G (p.Thr533Ala) single nucleotide variant Breast carcinoma [RCV000626962]|Familial cancer of breast [RCV000815815]|Hereditary cancer-predisposing syndrome [RCV001012327]|Malignant tumor of breast [RCV001356890]|not provided [RCV003478331] Chr16:23634949 [GRCh38]
Chr16:23646270 [GRCh37]
Chr16:16p12.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.2126A>G (p.Asn709Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000572395] Chr16:23630028 [GRCh38]
Chr16:23641349 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2410T>C (p.Ser804Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000572399] Chr16:23629744 [GRCh38]
Chr16:23641065 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2175_2176del (p.Pro726fs) deletion Hereditary cancer-predisposing syndrome [RCV000572411] Chr16:23629978..23629979 [GRCh38]
Chr16:23641299..23641300 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.3339G>A (p.Gly1113=) single nucleotide variant Familial cancer of breast [RCV001484965]|Hereditary cancer-predisposing syndrome [RCV000574778] Chr16:23607875 [GRCh38]
Chr16:23619196 [GRCh37]
Chr16:16p12.2		 likely benign
NM_024675.4(PALB2):c.1182T>C (p.His394=) single nucleotide variant Familial cancer of breast [RCV001469719]|Hereditary cancer-predisposing syndrome [RCV004023845] Chr16:23635364 [GRCh38]
Chr16:23646685 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.3300T>A (p.Thr1100=) single nucleotide variant Familial cancer of breast [RCV002060437]|Hereditary cancer-predisposing syndrome [RCV000574833] Chr16:23607914 [GRCh38]
Chr16:23619235 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.1417_1433del (p.Pro473fs) deletion Familial cancer of breast [RCV003316978] Chr16:23635113..23635129 [GRCh38]
Chr16:23646434..23646450 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.295dup (p.Thr99fs) duplication Familial cancer of breast [RCV003317001] Chr16:23636250..23636251 [GRCh38]
Chr16:23647571..23647572 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.603T>A (p.Ser201Arg) single nucleotide variant Familial cancer of breast [RCV000686735]|Familial cancer of breast [RCV002491124]|Hereditary cancer-predisposing syndrome [RCV000569806]|not specified [RCV002271530] Chr16:23635943 [GRCh38]
Chr16:23647264 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2240C>G (p.Ser747Cys) single nucleotide variant Familial cancer of breast [RCV000533900]|Hereditary cancer-predisposing syndrome [RCV001189375] Chr16:23629914 [GRCh38]
Chr16:23641235 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.416A>G (p.Gln139Arg) single nucleotide variant Familial cancer of breast [RCV001352086]|Hereditary cancer-predisposing syndrome [RCV000569883]|not provided [RCV002293463] Chr16:23636130 [GRCh38]
Chr16:23647451 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.21G>C (p.Lys7Asn) single nucleotide variant Familial cancer of breast [RCV000556948] Chr16:23641137 [GRCh38]
Chr16:23652458 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1340C>A (p.Ala447Glu) single nucleotide variant Familial cancer of breast [RCV000635800]|Familial cancer of breast [RCV000765275]|Hereditary cancer-predisposing syndrome [RCV000570239] Chr16:23635206 [GRCh38]
Chr16:23646527 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.887T>G (p.Met296Arg) single nucleotide variant Familial cancer of breast [RCV000534516]|Hereditary cancer-predisposing syndrome [RCV002377044]|not provided [RCV004767346] Chr16:23635659 [GRCh38]
Chr16:23646980 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1628A>C (p.Lys543Thr) single nucleotide variant Familial cancer of breast [RCV000534542]|Familial cancer of breast [RCV002490995] Chr16:23634918 [GRCh38]
Chr16:23646239 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.228A>G (p.Ile76Met) single nucleotide variant Familial cancer of breast [RCV000534687]|not provided [RCV003237908] Chr16:23636318 [GRCh38]
Chr16:23647639 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.875A>G (p.Gln292Arg) single nucleotide variant Familial cancer of breast [RCV002526837]|Hereditary cancer-predisposing syndrome [RCV000570560] Chr16:23635671 [GRCh38]
Chr16:23646992 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.3011A>C (p.Gln1004Pro) single nucleotide variant Familial cancer of breast [RCV003607322]|Hereditary cancer-predisposing syndrome [RCV000570568] Chr16:23621464 [GRCh38]
Chr16:23632785 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.206A>C (p.His69Pro) single nucleotide variant Familial cancer of breast [RCV003500551]|Hereditary cancer-predisposing syndrome [RCV000561540]|not provided [RCV004696946]|not specified [RCV004596269] Chr16:23637855 [GRCh38]
Chr16:23649176 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2079T>C (p.His693=) single nucleotide variant Familial cancer of breast [RCV000907014]|Hereditary cancer-predisposing syndrome [RCV000567037]|not specified [RCV000611016] Chr16:23630075 [GRCh38]
Chr16:23641396 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.2834+13C>A single nucleotide variant Familial cancer of breast [RCV002064368]|Familial cancer of breast [RCV002506479]|Familial pancreatic carcinoma [RCV005357814]|Hereditary cancer-predisposing syndrome [RCV001180326]|not specified [RCV000602761] Chr16:23623996 [GRCh38]
Chr16:23635317 [GRCh37]
Chr16:16p12.2		 likely benign
NM_024675.4(PALB2):c.1485del (p.Asp496fs) deletion Familial cancer of breast [RCV000576705]|Hereditary cancer-predisposing syndrome [RCV002395497] Chr16:23635061 [GRCh38]
Chr16:23646382 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic
NM_024675.4(PALB2):c.2456_2463del (p.Lys819fs) deletion Familial cancer of breast [RCV000576469]|not provided [RCV000657317] Chr16:23629691..23629698 [GRCh38]
Chr16:23641012..23641019 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic
NM_024675.4(PALB2):c.444del (p.Lys149fs) deletion Familial cancer of breast [RCV000576472]|Fanconi anemia complementation group N [RCV004796236]|Hereditary breast ovarian cancer syndrome [RCV004782452]|Hereditary cancer-predisposing syndrome [RCV002330992] Chr16:23636102 [GRCh38]
Chr16:23647423 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic
NM_024675.4(PALB2):c.866T>A (p.Leu289Ter) single nucleotide variant Familial cancer of breast [RCV000576557] Chr16:23635680 [GRCh38]
Chr16:23647001 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic
NM_024675.4(PALB2):c.2440G>A (p.Glu814Lys) single nucleotide variant Familial cancer of breast [RCV005102670]|Hereditary cancer-predisposing syndrome [RCV003301004] Chr16:23629714 [GRCh38]
Chr16:23641035 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.3039A>G (p.Ile1013Met) single nucleotide variant Familial cancer of breast [RCV003607577]|Hereditary cancer-predisposing syndrome [RCV003301010] Chr16:23621436 [GRCh38]
Chr16:23632757 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1968A>T (p.Pro656=) single nucleotide variant Familial cancer of breast [RCV003607337]|Hereditary cancer-predisposing syndrome [RCV004944021]|not specified [RCV000607641] Chr16:23630186 [GRCh38]
Chr16:23641507 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.1164T>C (p.Pro388=) single nucleotide variant Familial cancer of breast [RCV001395018]|Familial cancer of breast [RCV002506486]|Hereditary cancer-predisposing syndrome [RCV001186248]|not specified [RCV000602541] Chr16:23635382 [GRCh38]
Chr16:23646703 [GRCh37]
Chr16:16p12.2		 benign|likely benign
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3 copy number gain See cases [RCV000512138] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
NM_024675.4(PALB2):c.2333G>A (p.Ser778Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003278569] Chr16:23629821 [GRCh38]
Chr16:23641142 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.3233G>A (p.Cys1078Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003278574] Chr16:23607981 [GRCh38]
Chr16:23619302 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.3235G>A (p.Ala1079Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003278576] Chr16:23607979 [GRCh38]
Chr16:23619300 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2464C>A (p.Gln822Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003278577] Chr16:23629690 [GRCh38]
Chr16:23641011 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.3074dup (p.Leu1026fs) duplication Familial cancer of breast [RCV003455791]|Hereditary cancer-predisposing syndrome [RCV003278578] Chr16:23621400..23621401 [GRCh38]
Chr16:23632721..23632722 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic
NM_024675.4(PALB2):c.2162C>G (p.Thr721Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003278582] Chr16:23629992 [GRCh38]
Chr16:23641313 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2420C>G (p.Pro807Arg) single nucleotide variant Familial cancer of breast [RCV005102815]|Hereditary cancer-predisposing syndrome [RCV003278588] Chr16:23629734 [GRCh38]
Chr16:23641055 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1903G>A (p.Val635Met) single nucleotide variant Familial cancer of breast [RCV000533092]|Hereditary cancer-predisposing syndrome [RCV000774636] Chr16:23630251 [GRCh38]
Chr16:23641572 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2938del (p.Ser980fs) deletion Familial cancer of breast [RCV000699114]|Fanconi anemia complementation group N [RCV005018995]|Hereditary breast ovarian cancer syndrome [RCV004800477]|Hereditary cancer-predisposing syndrome [RCV000569592]|not provided [RCV000657531] Chr16:23623027 [GRCh38]
Chr16:23634348 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic
NM_024675.4(PALB2):c.336C>T (p.Gly112=) single nucleotide variant Familial cancer of breast [RCV000939160]|Hereditary cancer-predisposing syndrome [RCV000569617]|PALB2-related disorder [RCV004543265] Chr16:23636210 [GRCh38]
Chr16:23647531 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.3444T>C (p.Thr1148=) single nucleotide variant Familial cancer of breast [RCV001472005]|Hereditary cancer-predisposing syndrome [RCV004649228]|not specified [RCV000609434] Chr16:23603576 [GRCh38]
Chr16:23614897 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.2809G>A (p.Gly937Arg) single nucleotide variant Familial cancer of breast [RCV000819797]|Hereditary cancer-predisposing syndrome [RCV000571752] Chr16:23624034 [GRCh38]
Chr16:23635355 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.3113+10C>T single nucleotide variant Familial cancer of breast [RCV005427154]|not specified [RCV000605330] Chr16:23621352 [GRCh38]
Chr16:23632673 [GRCh37]
Chr16:16p12.2		 likely benign
NM_024675.4(PALB2):c.1083T>C (p.Thr361=) single nucleotide variant Familial cancer of breast [RCV001441102]|not specified [RCV000609674] Chr16:23635463 [GRCh38]
Chr16:23646784 [GRCh37]
Chr16:16p12.2		 likely benign
NM_024675.4(PALB2):c.108+8dup duplication not specified [RCV000615659] Chr16:23638060..23638061 [GRCh38]
Chr16:23649381..23649382 [GRCh37]
Chr16:16p12.2		 likely benign
NM_024675.4(PALB2):c.129G>T (p.Lys43Asn) single nucleotide variant Breast and/or ovarian cancer [RCV003150278]|Familial cancer of breast [RCV000696505]|Fanconi anemia complementation group N [RCV005398883]|Hereditary cancer-predisposing syndrome [RCV000571771]|PALB2-related disorder [RCV004740332] Chr16:23637932 [GRCh38]
Chr16:23649253 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2411C>G (p.Ser804Cys) single nucleotide variant Familial cancer of breast [RCV000540803]|Hereditary cancer-predisposing syndrome [RCV001015450] Chr16:23629743 [GRCh38]
Chr16:23641064 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1802A>G (p.Lys601Arg) single nucleotide variant Familial cancer of breast [RCV002491125]|Hereditary cancer-predisposing syndrome [RCV000574357]|not specified [RCV001821670] Chr16:23630352 [GRCh38]
Chr16:23641673 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2515-12T>C single nucleotide variant Familial cancer of breast [RCV003607334]|not specified [RCV000612638] Chr16:23629287 [GRCh38]
Chr16:23640608 [GRCh37]
Chr16:16p12.2		 likely benign
NM_024675.4(PALB2):c.3493T>C (p.Ser1165Pro) single nucleotide variant Familial cancer of breast [RCV000559715]|Hereditary cancer-predisposing syndrome [RCV001020438] Chr16:23603527 [GRCh38]
Chr16:23614848 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2835-5C>A single nucleotide variant Familial cancer of breast [RCV000559855] Chr16:23623135 [GRCh38]
Chr16:23634456 [GRCh37]
Chr16:16p12.2		 likely benign
NM_024675.4(PALB2):c.1664A>G (p.Lys555Arg) single nucleotide variant Familial cancer of breast [RCV000692233]|Hereditary cancer-predisposing syndrome [RCV000574386] Chr16:23634882 [GRCh38]
Chr16:23646203 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.932A>C (p.Lys311Thr) single nucleotide variant Familial cancer of breast [RCV000540940] Chr16:23635614 [GRCh38]
Chr16:23646935 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1962T>C (p.Ile654=) single nucleotide variant Familial cancer of breast [RCV000975717]|Hereditary cancer-predisposing syndrome [RCV000574472] Chr16:23630192 [GRCh38]
Chr16:23641513 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.2515-16A>G single nucleotide variant Familial cancer of breast [RCV003500582]|not specified [RCV000601621] Chr16:23629291 [GRCh38]
Chr16:23640612 [GRCh37]
Chr16:16p12.2		 likely benign
NM_024675.4(PALB2):c.1408_1411dup (p.Gly471fs) duplication Familial cancer of breast [RCV003317000] Chr16:23635134..23635135 [GRCh38]
Chr16:23646455..23646456 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.3076C>T (p.Leu1026=) single nucleotide variant Familial cancer of breast [RCV001435662]|Hereditary breast ovarian cancer syndrome [RCV005357799]|Hereditary cancer-predisposing syndrome [RCV000777569]|not specified [RCV000609935] Chr16:23621399 [GRCh38]
Chr16:23632720 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.2316T>C (p.Asp772=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000572135] Chr16:23629838 [GRCh38]
Chr16:23641159 [GRCh37]
Chr16:16p12.2		 likely benign
NM_024675.4(PALB2):c.2787T>G (p.Tyr929Ter) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000568858] Chr16:23624056 [GRCh38]
Chr16:23635377 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.2448C>A (p.Phe816Leu) single nucleotide variant Familial cancer of breast [RCV002298671]|Hereditary cancer-predisposing syndrome [RCV000568875] Chr16:23629706 [GRCh38]
Chr16:23641027 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1942_1948delinsA (p.Leu648_Glu650delinsLys) indel Familial cancer of breast [RCV000816487]|Hereditary cancer-predisposing syndrome [RCV000569464]|not provided [RCV004773003] Chr16:23630206..23630212 [GRCh38]
Chr16:23641527..23641533 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1476G>T (p.Gly492=) single nucleotide variant Familial cancer of breast [RCV005426183]|Hereditary cancer-predisposing syndrome [RCV000572319]|not specified [RCV002268180] Chr16:23635070 [GRCh38]
Chr16:23646391 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.840C>T (p.Asn280=) single nucleotide variant Familial cancer of breast [RCV000537730]|Hereditary cancer-predisposing syndrome [RCV000774640] Chr16:23635706 [GRCh38]
Chr16:23647027 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.2607del (p.Ser869_Val870insTer) deletion Familial cancer of breast [RCV001030332]|Hereditary breast ovarian cancer syndrome [RCV000589273]|Hereditary cancer-predisposing syndrome [RCV001016046]|not provided [RCV003478324] Chr16:23626377 [GRCh38]
Chr16:23637698 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic
NM_024675.4(PALB2):c.3210C>T (p.Leu1070=) single nucleotide variant Familial cancer of breast [RCV001463651]|Hereditary cancer-predisposing syndrome [RCV002325182]|not specified [RCV000607440] Chr16:23608004 [GRCh38]
Chr16:23619325 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.211+4A>G single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000572493] Chr16:23637846 [GRCh38]
Chr16:23649167 [GRCh37]
Chr16:16p12.2		 likely benign
NM_024675.4(PALB2):c.1479C>T (p.Pro493=) single nucleotide variant Familial cancer of breast [RCV005427029]|Hereditary cancer-predisposing syndrome [RCV000572605] Chr16:23635067 [GRCh38]
Chr16:23646388 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.834A>G (p.Leu278=) single nucleotide variant Familial cancer of breast [RCV002063116]|Hereditary cancer-predisposing syndrome [RCV002438565]|not specified [RCV000602378] Chr16:23635712 [GRCh38]
Chr16:23647033 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.1393A>G (p.Met465Val) single nucleotide variant Familial cancer of breast [RCV000556420] Chr16:23635153 [GRCh38]
Chr16:23646474 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2835-4T>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000569907] Chr16:23623134 [GRCh38]
Chr16:23634455 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1538C>A (p.Thr513Lys) single nucleotide variant Familial cancer of breast [RCV002289778]|Hereditary cancer-predisposing syndrome [RCV000569909] Chr16:23635008 [GRCh38]
Chr16:23646329 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1648A>T (p.Lys550Ter) single nucleotide variant Familial cancer of breast [RCV001853819]|Hereditary cancer-predisposing syndrome [RCV000569937] Chr16:23634898 [GRCh38]
Chr16:23646219 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.1684+1G>T single nucleotide variant Familial cancer of breast [RCV003485609]|Hereditary cancer-predisposing syndrome [RCV000572683]|not provided [RCV002221556] Chr16:23634861 [GRCh38]
Chr16:23646182 [GRCh37]
Chr16:16p12.2		 likely pathogenic
NM_024675.4(PALB2):c.2533C>T (p.Pro845Ser) single nucleotide variant Familial cancer of breast [RCV000560857]|Hereditary cancer-predisposing syndrome [RCV000771396] Chr16:23629257 [GRCh38]
Chr16:23640578 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1053A>G (p.Thr351=) single nucleotide variant Familial cancer of breast [RCV000560884]|Hereditary cancer-predisposing syndrome [RCV004023844] Chr16:23635493 [GRCh38]
Chr16:23646814 [GRCh37]
Chr16:16p12.2		 likely benign
NM_024675.4(PALB2):c.2997-2A>C single nucleotide variant Familial cancer of breast [RCV002530254]|Hereditary cancer-predisposing syndrome [RCV000569963] Chr16:23621480 [GRCh38]
Chr16:23632801 [GRCh37]
Chr16:16p12.2		 likely pathogenic|uncertain significance
NM_024675.4(PALB2):c.2834+1G>C single nucleotide variant Familial cancer of breast [RCV001858210]|Hereditary cancer-predisposing syndrome [RCV000569964]|not provided [RCV003320696] Chr16:23624008 [GRCh38]
Chr16:23635329 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic
NM_024675.4(PALB2):c.1059_1077delinsGG (p.Ser354fs) indel Familial cancer of breast [RCV003451259]|Hereditary cancer-predisposing syndrome [RCV000570053]|Malignant tumor of breast [RCV004800474] Chr16:23635469..23635487 [GRCh38]
Chr16:23646790..23646808 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.1243A>C (p.Ser415Arg) single nucleotide variant Familial cancer of breast [RCV001039556]|Hereditary cancer-predisposing syndrome [RCV000570108] Chr16:23635303 [GRCh38]
Chr16:23646624 [GRCh37]
Chr16:16p12.2		 likely benign|uncertain significance
NM_024675.4(PALB2):c.2698G>A (p.Ala900Thr) single nucleotide variant Familial cancer of breast [RCV000538630]|Hereditary cancer-predisposing syndrome [RCV001016340] Chr16:23626286 [GRCh38]
Chr16:23637607 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1972G>A (p.Glu658Lys) single nucleotide variant Familial cancer of breast [RCV000534427]|Hereditary cancer-predisposing syndrome [RCV003362832] Chr16:23630182 [GRCh38]
Chr16:23641503 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.3358G>A (p.Glu1120Lys) single nucleotide variant Familial cancer of breast [RCV001226156]|Hereditary cancer-predisposing syndrome [RCV000573002] Chr16:23603662 [GRCh38]
Chr16:23614983 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.682C>T (p.Gln228Ter) single nucleotide variant Familial cancer of breast [RCV000635756]|Hereditary breast ovarian cancer syndrome [RCV003987611]|Hereditary cancer-predisposing syndrome [RCV000573011] Chr16:23635864 [GRCh38]
Chr16:23647185 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.442AAG[1] (p.Lys149del) microsatellite Hereditary cancer-predisposing syndrome [RCV000570602] Chr16:23636099..23636101 [GRCh38]
Chr16:23647420..23647422 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2668G>A (p.Ala890Thr) single nucleotide variant Familial cancer of breast [RCV001350668]|Hereditary cancer-predisposing syndrome [RCV000573129] Chr16:23626316 [GRCh38]
Chr16:23637637 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.3343G>T (p.Ala1115Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003296464] Chr16:23607871 [GRCh38]
Chr16:23619192 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.566G>T (p.Arg189Ile) single nucleotide variant Familial cancer of breast [RCV000535087]|Hereditary cancer-predisposing syndrome [RCV001189068] Chr16:23635980 [GRCh38]
Chr16:23647301 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.1109A>G (p.Gln370Arg) single nucleotide variant Familial cancer of breast [RCV000557818] Chr16:23635437 [GRCh38]
Chr16:23646758 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.554A>C (p.Lys185Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000573269] Chr16:23635992 [GRCh38]
Chr16:23647313 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.3369G>A (p.Val1123=) single nucleotide variant Familial cancer of breast [RCV000539325]|Hereditary cancer-predisposing syndrome [RCV000582196]|not provided [RCV001358500]|not specified [RCV004767345] Chr16:23603651 [GRCh38]
Chr16:23614972 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.1238C>T (p.Thr413Ile) single nucleotide variant Breast-ovarian cancer, familial, susceptibility to, 5 [RCV003315482] Chr16:23635308 [GRCh38]
Chr16:23646629 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1008_1009del (p.Leu337fs) deletion Familial cancer of breast [RCV005091395]|Hereditary cancer-predisposing syndrome [RCV000573428] Chr16:23635537..23635538 [GRCh38]
Chr16:23646858..23646859 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.2713C>A (p.Gln905Lys) single nucleotide variant Familial cancer of breast [RCV000539422]|Hereditary cancer-predisposing syndrome [RCV003159786] Chr16:23626271 [GRCh38]
Chr16:23637592 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2075A>G (p.Gln692Arg) single nucleotide variant Familial cancer of breast [RCV003607311]|Hereditary cancer-predisposing syndrome [RCV000573473] Chr16:23630079 [GRCh38]
Chr16:23641400 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.936T>C (p.Ser312=) single nucleotide variant Familial cancer of breast [RCV001415492]|Hereditary cancer-predisposing syndrome [RCV000570984]|PALB2-related disorder [RCV004530601]|not provided [RCV001356051] Chr16:23635610 [GRCh38]
Chr16:23646931 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.639del (p.Thr214fs) deletion Familial cancer of breast [RCV000810538]|Hereditary cancer-predisposing syndrome [RCV000573531] Chr16:23635907 [GRCh38]
Chr16:23647228 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.1623G>C (p.Arg541Ser) single nucleotide variant Familial cancer of breast [RCV001858132]|Hereditary cancer-predisposing syndrome [RCV000573547]|not provided [RCV002509442] Chr16:23634923 [GRCh38]
Chr16:23646244 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2959_2966dup (p.Glu990fs) duplication Familial cancer of breast [RCV000532289] Chr16:23622998..23622999 [GRCh38]
Chr16:23634319..23634320 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_024675.4(PALB2):c.874C>T (p.Gln292Ter) single nucleotide variant Familial cancer of breast [RCV003455798]|Hereditary breast ovarian cancer syndrome [RCV003317953] Chr16:23635672 [GRCh38]
Chr16:23646993 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.1741_1744del (p.Leu581fs) microsatellite Familial cancer of breast [RCV002526836]|Hereditary cancer-predisposing syndrome [RCV000571165]|not provided [RCV000657320] Chr16:23630410..23630413 [GRCh38]
Chr16:23641731..23641734 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic
NM_024675.4(PALB2):c.2774T>C (p.Val925Ala) single nucleotide variant Familial cancer of breast [RCV000558592]|Familial cancer of breast [RCV002490996]|Hereditary cancer-predisposing syndrome [RCV001016552] Chr16:23624069 [GRCh38]
Chr16:23635390 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2164G>A (p.Asp722Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000573674] Chr16:23629990 [GRCh38]
Chr16:23641311 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2262T>C (p.Thr754=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000573712] Chr16:23629892 [GRCh38]
Chr16:23641213 [GRCh37]
Chr16:16p12.2		 likely benign
NM_024675.4(PALB2):c.2081C>A (p.Thr694Lys) single nucleotide variant Familial cancer of breast [RCV001069620]|Hereditary cancer-predisposing syndrome [RCV000573805] Chr16:23630073 [GRCh38]
Chr16:23641394 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1396T>C (p.Ser466Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003311297] Chr16:23635150 [GRCh38]
Chr16:23646471 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1300G>A (p.Asp434Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003311305] Chr16:23635246 [GRCh38]
Chr16:23646567 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1446C>G (p.Leu482=) single nucleotide variant Familial cancer of breast [RCV001393327]|Hereditary cancer-predisposing syndrome [RCV001011624]|Malignant tumor of breast [RCV001357437]|not specified [RCV000611780] Chr16:23635100 [GRCh38]
Chr16:23646421 [GRCh37]
Chr16:16p12.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.3518C>T (p.Ala1173Val) single nucleotide variant Familial cancer of breast [RCV000536109]|Fanconi anemia complementation group N [RCV005018923]|Hereditary cancer-predisposing syndrome [RCV001190817]|not provided [RCV001580512]|not specified [RCV002465701] Chr16:23603502 [GRCh38]
Chr16:23614823 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1356C>T (p.Asn452=) single nucleotide variant Familial cancer of breast [RCV000536365]|Hereditary cancer-predisposing syndrome [RCV002384086] Chr16:23635190 [GRCh38]
Chr16:23646511 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.2107T>C (p.Leu703=) single nucleotide variant Familial cancer of breast [RCV001404698]|Hereditary cancer-predisposing syndrome [RCV000573818] Chr16:23630047 [GRCh38]
Chr16:23641368 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.3376C>T (p.His1126Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003311302] Chr16:23603644 [GRCh38]
Chr16:23614965 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.435C>T (p.Ser145=) single nucleotide variant Familial cancer of breast [RCV003607586]|Hereditary cancer-predisposing syndrome [RCV003311303] Chr16:23636111 [GRCh38]
Chr16:23647432 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.250A>G (p.Ile84Val) single nucleotide variant Familial cancer of breast [RCV003607587]|Hereditary cancer-predisposing syndrome [RCV003311307] Chr16:23636296 [GRCh38]
Chr16:23647617 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2466G>A (p.Gln822=) single nucleotide variant Familial cancer of breast [RCV001431344]|Hereditary cancer-predisposing syndrome [RCV002456341]|not specified [RCV000604236] Chr16:23629688 [GRCh38]
Chr16:23641009 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.1974A>T (p.Glu658Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000571480] Chr16:23630180 [GRCh38]
Chr16:23641501 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.-36G>C single nucleotide variant not specified [RCV000604077] Chr16:23641193 [GRCh38]
Chr16:23652514 [GRCh37]
Chr16:16p12.2		 likely benign
NM_024675.4(PALB2):c.48+6G>C single nucleotide variant Familial cancer of breast [RCV001860267]|not specified [RCV000603533] Chr16:23641104 [GRCh38]
Chr16:23652425 [GRCh37]
Chr16:16p12.2		 likely benign|uncertain significance
NM_024675.4(PALB2):c.2968G>C (p.Glu990Gln) single nucleotide variant Familial cancer of breast [RCV000635602]|Hereditary cancer-predisposing syndrome [RCV002438681]|not provided [RCV001796150] Chr16:23622997 [GRCh38]
Chr16:23634318 [GRCh37]
Chr16:16p12.2		 likely benign|uncertain significance
NM_024675.4(PALB2):c.2587-7G>A single nucleotide variant Familial cancer of breast [RCV000635604]|Hereditary cancer-predisposing syndrome [RCV003584684]|not provided [RCV001558518] Chr16:23626404 [GRCh38]
Chr16:23637725 [GRCh37]
Chr16:16p12.2		 likely benign|uncertain significance
NM_024675.4(PALB2):c.212A>G (p.Glu71Gly) single nucleotide variant Familial cancer of breast [RCV000635608]|Hereditary cancer-predisposing syndrome [RCV003584685]|not provided [RCV005231207] Chr16:23636334 [GRCh38]
Chr16:23647655 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2737C>T (p.His913Tyr) single nucleotide variant Familial cancer of breast [RCV000635631] Chr16:23626247 [GRCh38]
Chr16:23637568 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2736G>C (p.Trp912Cys) single nucleotide variant Familial cancer of breast [RCV000635639] Chr16:23626248 [GRCh38]
Chr16:23637569 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2943T>G (p.Ser981Arg) single nucleotide variant Familial cancer of breast [RCV000635644]|Hereditary cancer-predisposing syndrome [RCV004649234] Chr16:23623022 [GRCh38]
Chr16:23634343 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.325C>G (p.Pro109Ala) single nucleotide variant Familial cancer of breast [RCV000635678] Chr16:23636221 [GRCh38]
Chr16:23647542 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2650G>C (p.Glu884Gln) single nucleotide variant Familial cancer of breast [RCV000635681] Chr16:23626334 [GRCh38]
Chr16:23637655 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2906T>A (p.Val969Glu) single nucleotide variant Familial cancer of breast [RCV000635682] Chr16:23623059 [GRCh38]
Chr16:23634380 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.338del (p.Pro113fs) deletion Familial cancer of breast [RCV000635690] Chr16:23636208 [GRCh38]
Chr16:23647529 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.3163T>C (p.Tyr1055His) single nucleotide variant Familial cancer of breast [RCV000635694]|Hereditary cancer-predisposing syndrome [RCV002325228] Chr16:23614042 [GRCh38]
Chr16:23625363 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2861A>G (p.Glu954Gly) single nucleotide variant Familial cancer of breast [RCV000635705]|Familial cancer of breast [RCV002492979]|Hereditary cancer-predisposing syndrome [RCV000771431]|not provided [RCV001775933] Chr16:23623104 [GRCh38]
Chr16:23634425 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.116A>T (p.Gln39Leu) single nucleotide variant Familial cancer of breast [RCV000635709] Chr16:23637945 [GRCh38]
Chr16:23649266 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2603G>A (p.Cys868Tyr) single nucleotide variant Familial cancer of breast [RCV000635726]|Hereditary cancer-predisposing syndrome [RCV002424396] Chr16:23626381 [GRCh38]
Chr16:23637702 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2694G>A (p.Trp898Ter) single nucleotide variant Familial cancer of breast [RCV000635736] Chr16:23626290 [GRCh38]
Chr16:23637611 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.137A>G (p.His46Arg) single nucleotide variant Familial cancer of breast [RCV000635748]|Hereditary cancer-predisposing syndrome [RCV001011256]|not provided [RCV001527324] Chr16:23637924 [GRCh38]
Chr16:23649245 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2777C>T (p.Pro926Leu) single nucleotide variant Familial cancer of breast [RCV000635754]|Familial cancer of breast [RCV002492980]|Hereditary cancer-predisposing syndrome [RCV000776706] Chr16:23624066 [GRCh38]
Chr16:23635387 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.3463T>C (p.Ser1155Pro) single nucleotide variant Familial cancer of breast [RCV000635762]|Hereditary cancer-predisposing syndrome [RCV004944039] Chr16:23603557 [GRCh38]
Chr16:23614878 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.3022C>A (p.Pro1008Thr) single nucleotide variant Familial cancer of breast [RCV000635767] Chr16:23621453 [GRCh38]
Chr16:23632774 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2934TAG[1] (p.Ser981del) microsatellite Familial cancer of breast [RCV000635772] Chr16:23623026..23623028 [GRCh38]
Chr16:23634347..23634349 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.3415A>C (p.Ile1139Leu) single nucleotide variant Familial cancer of breast [RCV000635774] Chr16:23603605 [GRCh38]
Chr16:23614926 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.3495G>C (p.Ser1165=) single nucleotide variant Familial cancer of breast [RCV003607335]|Hereditary cancer-predisposing syndrome [RCV001020441]|not provided [RCV001722601] Chr16:23603525 [GRCh38]
Chr16:23614846 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.157G>A (p.Glu53Lys) single nucleotide variant Familial cancer of breast [RCV000635779]|Hereditary cancer-predisposing syndrome [RCV000709389] Chr16:23637904 [GRCh38]
Chr16:23649225 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.1070C>G (p.Ser357Cys) single nucleotide variant Familial cancer of breast [RCV000635780] Chr16:23635476 [GRCh38]
Chr16:23646797 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.926T>G (p.Ile309Arg) single nucleotide variant Familial cancer of breast [RCV000635796]|Hereditary cancer-predisposing syndrome [RCV001189067] Chr16:23635620 [GRCh38]
Chr16:23646941 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.2809G>C (p.Gly937Arg) single nucleotide variant Familial cancer of breast [RCV000635798]|Hereditary cancer-predisposing syndrome [RCV001525839] Chr16:23624034 [GRCh38]
Chr16:23635355 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.693del (p.Gly232fs) deletion Familial cancer of breast [RCV000635811]|Hereditary cancer-predisposing syndrome [RCV004025467]|not provided [RCV004721508] Chr16:23635853 [GRCh38]
Chr16:23647174 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.526C>G (p.Leu176Val) single nucleotide variant Familial cancer of breast [RCV000635817]|Hereditary cancer-predisposing syndrome [RCV003162843] Chr16:23636020 [GRCh38]
Chr16:23647341 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1607T>C (p.Leu536Pro) single nucleotide variant Familial cancer of breast [RCV000635825]|Hereditary cancer-predisposing syndrome [RCV004649235]|not provided [RCV003233767] Chr16:23634939 [GRCh38]
Chr16:23646260 [GRCh37]
Chr16:16p12.2		 likely benign|uncertain significance
NM_024675.4(PALB2):c.2068C>G (p.Gln690Glu) single nucleotide variant Familial cancer of breast [RCV000635837]|Hereditary cancer-predisposing syndrome [RCV002420707] Chr16:23630086 [GRCh38]
Chr16:23641407 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2650G>T (p.Glu884Ter) single nucleotide variant Breast-ovarian cancer, familial, susceptibility to, 5 [RCV005416117]|Familial cancer of breast [RCV000635848]|not provided [RCV000760341] Chr16:23626334 [GRCh38]
Chr16:23637655 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.2989G>T (p.Asp997Tyr) single nucleotide variant Familial cancer of breast [RCV000635883]|Hereditary cancer-predisposing syndrome [RCV000776383]|not provided [RCV004721509]|not specified [RCV001192766] Chr16:23622976 [GRCh38]
Chr16:23634297 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.623A>C (p.Asp208Ala) single nucleotide variant Familial cancer of breast [RCV000635893] Chr16:23635923 [GRCh38]
Chr16:23647244 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2828A>C (p.Glu943Ala) single nucleotide variant Familial cancer of breast [RCV000635900] Chr16:23624015 [GRCh38]
Chr16:23635336 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.845G>A (p.Arg282Lys) single nucleotide variant Familial cancer of breast [RCV000635923]|Hereditary cancer-predisposing syndrome [RCV002448971] Chr16:23635701 [GRCh38]
Chr16:23647022 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.3494C>A (p.Ser1165Ter) single nucleotide variant Breast and/or ovarian cancer [RCV001270994]|Familial cancer of breast [RCV000635924]|Hereditary cancer-predisposing syndrome [RCV003303005] Chr16:23603526 [GRCh38]
Chr16:23614847 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic
NM_024675.4(PALB2):c.1628A>G (p.Lys543Arg) single nucleotide variant Familial cancer of breast [RCV000635930]|Hereditary cancer-predisposing syndrome [RCV001012482]|not provided [RCV003441984] Chr16:23634918 [GRCh38]
Chr16:23646239 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.211+6T>A single nucleotide variant Familial cancer of breast [RCV000635949] Chr16:23637844 [GRCh38]
Chr16:23649165 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2966_2968del (p.Val989del) deletion Familial cancer of breast [RCV000635952]|Hereditary cancer-predisposing syndrome [RCV004659133]|not provided [RCV001030359]|not specified [RCV003987634] Chr16:23622997..23622999 [GRCh38]
Chr16:23634318..23634320 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.781C>A (p.His261Asn) single nucleotide variant Familial cancer of breast [RCV000635958] Chr16:23635765 [GRCh38]
Chr16:23647086 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2834+8A>G single nucleotide variant Familial cancer of breast [RCV000635968]|Hereditary cancer-predisposing syndrome [RCV000776620] Chr16:23624001 [GRCh38]
Chr16:23635322 [GRCh37]
Chr16:16p12.2		 likely benign
NM_024675.4(PALB2):c.2919A>T (p.Thr973=) single nucleotide variant Familial cancer of breast [RCV000635984] Chr16:23623046 [GRCh38]
Chr16:23634367 [GRCh37]
Chr16:16p12.2		 likely benign
NM_024675.4(PALB2):c.2544T>C (p.Asp848=) single nucleotide variant Familial cancer of breast [RCV000635986]|Hereditary cancer-predisposing syndrome [RCV000774628]|not provided [RCV003420106] Chr16:23629246 [GRCh38]
Chr16:23640567 [GRCh37]
Chr16:16p12.2		 likely benign
NM_024675.4(PALB2):c.1684+6del deletion Familial cancer of breast [RCV000635989]|Hereditary cancer-predisposing syndrome [RCV001182084] Chr16:23634856 [GRCh38]
Chr16:23646177 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1685-3T>C single nucleotide variant Familial cancer of breast [RCV000635992]|Hereditary cancer-predisposing syndrome [RCV002404773]|not provided [RCV003128674] Chr16:23630472 [GRCh38]
Chr16:23641793 [GRCh37]
Chr16:16p12.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.522A>G (p.Lys174=) single nucleotide variant Familial cancer of breast [RCV000636012]|Hereditary cancer-predisposing syndrome [RCV002343239] Chr16:23636024 [GRCh38]
Chr16:23647345 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.1422T>C (p.Ser474=) single nucleotide variant Familial cancer of breast [RCV000636023] Chr16:23635124 [GRCh38]
Chr16:23646445 [GRCh37]
Chr16:16p12.2		 likely benign
NM_024675.4(PALB2):c.2834+10T>G single nucleotide variant Familial cancer of breast [RCV000636026] Chr16:23623999 [GRCh38]
Chr16:23635320 [GRCh37]
Chr16:16p12.2		 likely benign
NM_024675.4(PALB2):c.508A>C (p.Arg170=) single nucleotide variant Familial cancer of breast [RCV000636043]|Hereditary cancer-predisposing syndrome [RCV000771725] Chr16:23636038 [GRCh38]
Chr16:23647359 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.1242A>G (p.Arg414=) single nucleotide variant Familial cancer of breast [RCV000636048] Chr16:23635304 [GRCh38]
Chr16:23646625 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.108+8A>G single nucleotide variant Familial cancer of breast [RCV000636050] Chr16:23638062 [GRCh38]
Chr16:23649383 [GRCh37]
Chr16:16p12.2		 likely benign
NM_024675.4(PALB2):c.2829G>A (p.Glu943=) single nucleotide variant Familial cancer of breast [RCV000636051] Chr16:23624014 [GRCh38]
Chr16:23635335 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.2181T>C (p.Ala727=) single nucleotide variant Familial cancer of breast [RCV000636052]|Hereditary cancer-predisposing syndrome [RCV000777503] Chr16:23629973 [GRCh38]
Chr16:23641294 [GRCh37]
Chr16:16p12.2		 likely benign
NC_000016.9:g.(?_23614774)_(23614996_?)dup duplication Familial cancer of breast [RCV000636058] Chr16:23603453..23603675 [GRCh38]
Chr16:23614774..23614996 [GRCh37]
Chr16:16p12.2		 uncertain significance
GRCh37/hg19 16p12.3-11.2(chr16:18238275-30177240)x3 copy number gain See cases [RCV000512428] Chr16:18238275..30177240 [GRCh37]
Chr16:16p12.3-11.2		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062) copy number gain See cases [RCV000511296] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
NM_024675.4(PALB2):c.114C>T (p.Ala38=) single nucleotide variant Familial cancer of breast [RCV005422830]|Hereditary cancer-predisposing syndrome [RCV001017482]|not specified [RCV000606064] Chr16:23637947 [GRCh38]
Chr16:23649268 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.94C>T (p.Leu32=) single nucleotide variant Familial cancer of breast [RCV002063006]|Hereditary cancer-predisposing syndrome [RCV002377254]|not specified [RCV000600799] Chr16:23638084 [GRCh38]
Chr16:23649405 [GRCh37]
Chr16:16p12.2		 likely benign
GRCh37/hg19 16p12.2-11.2(chr16:21379628-29351826)x3 copy number gain See cases [RCV000512478] Chr16:21379628..29351826 [GRCh37]
Chr16:16p12.2-11.2		 pathogenic
NM_024675.4(PALB2):c.2834+16G>A single nucleotide variant Familial cancer of breast [RCV001868078]|not specified [RCV000606612] Chr16:23623993 [GRCh38]
Chr16:23635314 [GRCh37]
Chr16:16p12.2		 likely benign|uncertain significance
NM_024675.4(PALB2):c.3540_3543del (p.Ile1180fs) deletion Familial cancer of breast [RCV003450523] Chr16:23603477..23603480 [GRCh38]
Chr16:23614798..23614801 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic
NM_024675.4(PALB2):c.841del (p.Ile281fs) deletion Familial cancer of breast [RCV003451587]|not provided [RCV000657298] Chr16:23635705 [GRCh38]
Chr16:23647026 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic
NM_024675.4(PALB2):c.502dup (p.Ser168fs) duplication Familial cancer of breast [RCV000693352]|Hereditary cancer-predisposing syndrome [RCV005384809]|not provided [RCV000657443] Chr16:23636043..23636044 [GRCh38]
Chr16:23647364..23647365 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic
NM_024675.4(PALB2):c.1288C>T (p.Gln430Ter) single nucleotide variant Familial cancer of breast [RCV000662965]|Hereditary cancer-predisposing syndrome [RCV002386129]|not provided [RCV000657764] Chr16:23635258 [GRCh38]
Chr16:23646579 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic
NM_024675.4(PALB2):c.704C>A (p.Thr235Lys) single nucleotide variant Familial cancer of breast [RCV000686690]|Hereditary cancer-predisposing syndrome [RCV001179355]|not provided [RCV004588106]|not specified [RCV002232849] Chr16:23635842 [GRCh38]
Chr16:23647163 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2860G>A (p.Glu954Lys) single nucleotide variant Familial cancer of breast [RCV000701093] Chr16:23623105 [GRCh38]
Chr16:23634426 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.204del (p.Lys68fs) deletion Familial cancer of breast [RCV003451584]|Hereditary cancer-predisposing syndrome [RCV002422438]|not provided [RCV000657270] Chr16:23637857 [GRCh38]
Chr16:23649178 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.770del (p.Gly257fs) deletion Familial cancer of breast [RCV003451596]|not provided [RCV000657438] Chr16:23635776 [GRCh38]
Chr16:23647097 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic
NM_024675.4(PALB2):c.1725del (p.Ser574_Trp575insTer) deletion Familial cancer of breast [RCV000662937] Chr16:23630429 [GRCh38]
Chr16:23641750 [GRCh37]
Chr16:16p12.2		 likely pathogenic
NM_024675.4(PALB2):c.117_120dup (p.Ala41fs) duplication Familial cancer of breast [RCV004792352]|not provided [RCV000657271] Chr16:23637940..23637941 [GRCh38]
Chr16:23649261..23649262 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic
NM_024675.4(PALB2):c.1789del (p.Met597fs) deletion Familial cancer of breast [RCV001230455]|Hereditary cancer-predisposing syndrome [RCV003362882]|not provided [RCV000657295] Chr16:23630365 [GRCh38]
Chr16:23641686 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic
NM_024675.4(PALB2):c.774_775insC (p.Ser259fs) insertion not provided [RCV000657350] Chr16:23635771..23635772 [GRCh38]
Chr16:23647092..23647093 [GRCh37]
Chr16:16p12.2		 likely pathogenic
NM_024675.4(PALB2):c.475G>T (p.Glu159Ter) single nucleotide variant Familial cancer of breast [RCV000662619] Chr16:23636071 [GRCh38]
Chr16:23647392 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic
NM_024675.4(PALB2):c.2100_2110del (p.Ser701fs) deletion Familial cancer of breast [RCV001855356]|Hereditary breast ovarian cancer syndrome [RCV001775143]|Hereditary cancer-predisposing syndrome [RCV004659158]|not provided [RCV000657524] Chr16:23630044..23630054 [GRCh38]
Chr16:23641365..23641375 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.3441T>A (p.Cys1147Ter) single nucleotide variant Familial cancer of breast [RCV001213219]|Fanconi anemia complementation group N [RCV005019096]|Hereditary cancer-predisposing syndrome [RCV002458171]|Malignant tumor of breast [RCV004526734]|PALB2-related disorder [RCV004740390]|not provided [RCV000657758] Chr16:23603579 [GRCh38]
Chr16:23614900 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic
NM_024675.4(PALB2):c.3425T>A (p.Leu1142Ter) single nucleotide variant Familial cancer of breast [RCV001234062]|not provided [RCV000657760] Chr16:23603595 [GRCh38]
Chr16:23614916 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.1227_1231del (p.Tyr409_Arg411delinsTer) deletion Familial cancer of breast [RCV001030207]|Hereditary cancer-predisposing syndrome [RCV002360680]|not provided [RCV000657801] Chr16:23635315..23635319 [GRCh38]
Chr16:23646636..23646640 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic
NM_024675.4(PALB2):c.666_669del (p.Leu222fs) deletion Familial cancer of breast [RCV000662696] Chr16:23635877..23635880 [GRCh38]
Chr16:23647198..23647201 [GRCh37]
Chr16:16p12.2		 likely pathogenic
NM_024675.4(PALB2):c.212-2A>T single nucleotide variant Familial cancer of breast [RCV000662995] Chr16:23636336 [GRCh38]
Chr16:23647657 [GRCh37]
Chr16:16p12.2		 likely pathogenic
NM_024675.4(PALB2):c.994C>T (p.Leu332Phe) single nucleotide variant Familial cancer of breast [RCV000685532]|Hereditary cancer-predisposing syndrome [RCV004944085]|not provided [RCV003225111] Chr16:23635552 [GRCh38]
Chr16:23646873 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1103del (p.Asn368fs) deletion Familial cancer of breast [RCV000662949]|Hereditary cancer-predisposing syndrome [RCV001177937] Chr16:23635443 [GRCh38]
Chr16:23646764 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic
NM_024675.4(PALB2):c.778C>T (p.Gln260Ter) single nucleotide variant Familial cancer of breast [RCV003453394]|Hereditary cancer-predisposing syndrome [RCV002406519]|Neuroendocrine tumor of pancreas [RCV000677896] Chr16:23635768 [GRCh38]
Chr16:23647089 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.1652dup (p.Tyr551Ter) duplication Familial cancer of breast [RCV001386777]|Hereditary cancer-predisposing syndrome [RCV004944081]|Malignant tumor of pancreas [RCV000677895] Chr16:23634893..23634894 [GRCh38]
Chr16:23646214..23646215 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.2659A>G (p.Ile887Val) single nucleotide variant Familial cancer of breast [RCV000698770]|Familial cancer of breast [RCV002485708]|Fanconi anemia complementation group N [RCV003133551]|Hereditary cancer-predisposing syndrome [RCV000774627] Chr16:23626325 [GRCh38]
Chr16:23637646 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2881_2883del (p.Leu961del) deletion Familial cancer of breast [RCV000686314]|Hereditary cancer-predisposing syndrome [RCV002440423] Chr16:23623082..23623084 [GRCh38]
Chr16:23634403..23634405 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2096C>T (p.Ser699Phe) single nucleotide variant Familial cancer of breast [RCV000686073]|Hereditary cancer-predisposing syndrome [RCV005384814] Chr16:23630058 [GRCh38]
Chr16:23641379 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1805A>C (p.Gln602Pro) single nucleotide variant Familial cancer of breast [RCV000700898] Chr16:23630349 [GRCh38]
Chr16:23641670 [GRCh37]
Chr16:16p12.2		 uncertain significance
GRCh37/hg19 16p12.2-11.2(chr16:21379628-29379768)x1 copy number loss not provided [RCV000683786] Chr16:21379628..29379768 [GRCh37]
Chr16:16p12.2-11.2		 pathogenic
NM_024675.4(PALB2):c.2515-11T>C single nucleotide variant Familial cancer of breast [RCV002066995]|Hereditary cancer-predisposing syndrome [RCV000771301]|not provided [RCV000679764] Chr16:23629286 [GRCh38]
Chr16:23640607 [GRCh37]
Chr16:16p12.2		 likely benign|conflicting interpretations of pathogenicity
NM_024675.4(PALB2):c.3386C>T (p.Ala1129Val) single nucleotide variant Familial cancer of breast [RCV001039207]|not provided [RCV000679771] Chr16:23603634 [GRCh38]
Chr16:23614955 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.3048T>G (p.Phe1016Leu) single nucleotide variant Breast-ovarian cancer, familial, susceptibility to, 5 [RCV005357902]|Familial cancer of breast [RCV001861873]|Fanconi anemia complementation group N [RCV005019168]|Hereditary cancer-predisposing syndrome [RCV001018293]|not provided [RCV000679768] Chr16:23621427 [GRCh38]
Chr16:23632748 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1991T>G (p.Met664Arg) single nucleotide variant Familial cancer of breast [RCV000801768]|Hereditary cancer-predisposing syndrome [RCV001013949]|not provided [RCV000679762] Chr16:23630163 [GRCh38]
Chr16:23641484 [GRCh37]
Chr16:16p12.2		 likely benign|uncertain significance
GRCh37/hg19 16p12.2-12.1(chr16:23610466-24743657)x1 copy number loss not provided [RCV000683797] Chr16:23610466..24743657 [GRCh37]
Chr16:16p12.2-12.1		 uncertain significance
NM_024675.4(PALB2):c.902A>T (p.Asp301Val) single nucleotide variant Familial cancer of breast [RCV001869525]|Hereditary cancer-predisposing syndrome [RCV001804639] Chr16:23635644 [GRCh38]
Chr16:23646965 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.763G>C (p.Asp255His) single nucleotide variant Familial cancer of breast [RCV000701247] Chr16:23635783 [GRCh38]
Chr16:23647104 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1006A>C (p.Asn336His) single nucleotide variant Familial cancer of breast [RCV000701789]|Hereditary cancer-predisposing syndrome [RCV002422574]|not provided [RCV000985881]|not specified [RCV003479202] Chr16:23635540 [GRCh38]
Chr16:23646861 [GRCh37]
Chr16:16p12.2		 likely benign|uncertain significance
NM_024675.4(PALB2):c.1212dup (p.Pro405fs) duplication Familial cancer of breast [RCV000701919] Chr16:23635333..23635334 [GRCh38]
Chr16:23646654..23646655 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.92C>T (p.Thr31Ile) single nucleotide variant Familial cancer of breast [RCV000688103] Chr16:23638086 [GRCh38]
Chr16:23649407 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2973C>T (p.Val991=) single nucleotide variant Familial cancer of breast [RCV003607427]|Hereditary cancer-predisposing syndrome [RCV001804659] Chr16:23622992 [GRCh38]
Chr16:23634313 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.2089G>A (p.Gly697Ser) single nucleotide variant Familial cancer of breast [RCV000699438]|Hereditary cancer-predisposing syndrome [RCV002422555] Chr16:23630065 [GRCh38]
Chr16:23641386 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1975C>G (p.Leu659Val) single nucleotide variant Familial cancer of breast [RCV000685759]|Hereditary cancer-predisposing syndrome [RCV001191642] Chr16:23630179 [GRCh38]
Chr16:23641500 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2083A>G (p.Lys695Glu) single nucleotide variant Familial cancer of breast [RCV000700130] Chr16:23630071 [GRCh38]
Chr16:23641392 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1208T>G (p.Leu403Arg) single nucleotide variant Familial cancer of breast [RCV000699808] Chr16:23635338 [GRCh38]
Chr16:23646659 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2656T>C (p.Cys886Arg) single nucleotide variant Familial cancer of breast [RCV000685515]|Hereditary cancer-predisposing syndrome [RCV002424583] Chr16:23626328 [GRCh38]
Chr16:23637649 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1685-3T>G single nucleotide variant Familial cancer of breast [RCV000701002] Chr16:23630472 [GRCh38]
Chr16:23641793 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1885T>C (p.Ser629Pro) single nucleotide variant Familial cancer of breast [RCV000686968]|Hereditary cancer-predisposing syndrome [RCV002406541] Chr16:23630269 [GRCh38]
Chr16:23641590 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2899A>G (p.Lys967Glu) single nucleotide variant Familial cancer of breast [RCV000686887] Chr16:23623066 [GRCh38]
Chr16:23634387 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1485A>T (p.Glu495Asp) single nucleotide variant Familial cancer of breast [RCV000701590] Chr16:23635061 [GRCh38]
Chr16:23646382 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.626C>T (p.Ser209Phe) single nucleotide variant Familial cancer of breast [RCV000701591]|Hereditary cancer-predisposing syndrome [RCV001177156] Chr16:23635920 [GRCh38]
Chr16:23647241 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1448C>T (p.Ser483Leu) single nucleotide variant Familial cancer of breast [RCV000696071]|Hereditary cancer-predisposing syndrome [RCV000708728]|Pancreatic cancer, susceptibility to, 3 [RCV005357929]|not provided [RCV001824361] Chr16:23635098 [GRCh38]
Chr16:23646419 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1377C>G (p.Asp459Glu) single nucleotide variant Familial cancer of breast [RCV000687394]|Hereditary cancer-predisposing syndrome [RCV000774945] Chr16:23635169 [GRCh38]
Chr16:23646490 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1331A>G (p.Asn444Ser) single nucleotide variant Familial cancer of breast [RCV000704371] Chr16:23635215 [GRCh38]
Chr16:23646536 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.938G>A (p.Gly313Asp) single nucleotide variant Familial cancer of breast [RCV000704478] Chr16:23635608 [GRCh38]
Chr16:23646929 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2515-1G>A single nucleotide variant Familial cancer of breast [RCV000707120]|Hereditary cancer-predisposing syndrome [RCV001015744]|Pancreatic cancer, susceptibility to, 3 [RCV001258101] Chr16:23629276 [GRCh38]
Chr16:23640597 [GRCh37]
Chr16:16p12.2		 likely pathogenic
NM_024675.4(PALB2):c.3233G>C (p.Cys1078Ser) single nucleotide variant Familial cancer of breast [RCV001202011]|Hereditary cancer-predisposing syndrome [RCV000709375] Chr16:23607981 [GRCh38]
Chr16:23619302 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.3184A>G (p.Lys1062Glu) single nucleotide variant Familial cancer of breast [RCV000989550] Chr16:23614021 [GRCh38]
Chr16:23625342 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.3085A>G (p.Thr1029Ala) single nucleotide variant Familial cancer of breast [RCV000989551] Chr16:23621390 [GRCh38]
Chr16:23632711 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.3008del (p.Asn1003fs) deletion Familial cancer of breast [RCV000989552] Chr16:23621467 [GRCh38]
Chr16:23632788 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.2927G>C (p.Arg976Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000709379] Chr16:23623038 [GRCh38]
Chr16:23634359 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2398T>A (p.Cys800Ser) single nucleotide variant Familial cancer of breast [RCV000989558] Chr16:23629756 [GRCh38]
Chr16:23641077 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1848dup (p.Glu617Ter) duplication Familial cancer of breast [RCV000989566] Chr16:23630305..23630306 [GRCh38]
Chr16:23641626..23641627 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.1539dup (p.Gly514fs) duplication Familial cancer of breast [RCV000989571] Chr16:23635006..23635007 [GRCh38]
Chr16:23646327..23646328 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.715del (p.Arg239fs) deletion Familial cancer of breast [RCV000989575] Chr16:23635831 [GRCh38]
Chr16:23647152 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.50T>G (p.Leu17Ter) single nucleotide variant Familial cancer of breast [RCV000989583]|Hereditary cancer-predisposing syndrome [RCV000709390] Chr16:23638128 [GRCh38]
Chr16:23649449 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.2587-1G>C single nucleotide variant Breast-ovarian cancer, familial, susceptibility to, 5 [RCV005357957]|Familial cancer of breast [RCV000989555]|Hereditary cancer-predisposing syndrome [RCV000709380]|not provided [RCV001759427] Chr16:23626398 [GRCh38]
Chr16:23637719 [GRCh37]
Chr16:16p12.2		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.2116_2129delinsG (p.Thr706fs) indel Hereditary cancer-predisposing syndrome [RCV000709382] Chr16:23630025..23630038 [GRCh38]
Chr16:23641346..23641359 [GRCh37]
Chr16:16p12.2		 likely pathogenic
NM_024675.4(PALB2):c.820A>C (p.Thr274Pro) single nucleotide variant Familial cancer of breast [RCV000704500] Chr16:23635726 [GRCh38]
Chr16:23647047 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2332A>G (p.Ser778Gly) single nucleotide variant Familial cancer of breast [RCV000690317]|Hereditary cancer-predisposing syndrome [RCV001015212] Chr16:23629822 [GRCh38]
Chr16:23641143 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.995_996del (p.Leu332fs) deletion Familial cancer of breast [RCV000690347] Chr16:23635550..23635551 [GRCh38]
Chr16:23646871..23646872 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.2499A>T (p.Lys833Asn) single nucleotide variant Familial cancer of breast [RCV000704597] Chr16:23629655 [GRCh38]
Chr16:23640976 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.532del (p.Glu178fs) deletion Familial cancer of breast [RCV000704651]|Hereditary cancer-predisposing syndrome [RCV001186986] Chr16:23636014 [GRCh38]
Chr16:23647335 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.167A>G (p.Asp56Gly) single nucleotide variant Familial cancer of breast [RCV000693429] Chr16:23637894 [GRCh38]
Chr16:23649215 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2645G>T (p.Cys882Phe) single nucleotide variant Familial cancer of breast [RCV000704896]|Hereditary cancer-predisposing syndrome [RCV001184091] Chr16:23626339 [GRCh38]
Chr16:23637660 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.2668G>C (p.Ala890Pro) single nucleotide variant Familial cancer of breast [RCV000704901]|Hereditary cancer-predisposing syndrome [RCV002424706] Chr16:23626316 [GRCh38]
Chr16:23637637 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.3129dup (p.Gln1044fs) duplication Familial cancer of breast [RCV000693623] Chr16:23614075..23614076 [GRCh38]
Chr16:23625396..23625397 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.1060T>G (p.Ser354Ala) single nucleotide variant Familial cancer of breast [RCV000705104] Chr16:23635486 [GRCh38]
Chr16:23646807 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1165C>T (p.Leu389Phe) single nucleotide variant Familial cancer of breast [RCV000693750]|Hereditary cancer-predisposing syndrome [RCV000774095] Chr16:23635381 [GRCh38]
Chr16:23646702 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1039_1042delinsAAAAAA (p.Glu347fs) indel Familial cancer of breast [RCV000702548]|Hereditary breast ovarian cancer syndrome [RCV002271571]|Hereditary cancer-predisposing syndrome [RCV002388318] Chr16:23635504..23635507 [GRCh38]
Chr16:23646825..23646828 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic
NC_000016.10:g.(?_23621352)_(23641167_?)del deletion Familial cancer of breast [RCV000707857] Chr16:23621352..23641167 [GRCh38]
Chr16:23632673..23652488 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.2698G>C (p.Ala900Pro) single nucleotide variant Familial cancer of breast [RCV000691295]|Hereditary cancer-predisposing syndrome [RCV001016341]|not provided [RCV001729686] Chr16:23626286 [GRCh38]
Chr16:23637607 [GRCh37]
Chr16:16p12.2		 likely benign|uncertain significance
NM_024675.4(PALB2):c.396_397del (p.Val132_Ser133insTer) deletion Familial cancer of breast [RCV000705480]|Hereditary cancer-predisposing syndrome [RCV000774810] Chr16:23636149..23636150 [GRCh38]
Chr16:23647470..23647471 [GRCh37]
Chr16:16p12.2		 pathogenic
NC_000016.9:g.(?_23625315)_(23625422_?)dup duplication Familial cancer of breast [RCV000707904] Chr16:23613994..23614101 [GRCh38]
Chr16:23625315..23625422 [GRCh37]
Chr16:16p12.2		 likely pathogenic
NM_024675.4(PALB2):c.3542_3543dup (p.Val1182fs) duplication Familial cancer of breast [RCV000702713] Chr16:23603476..23603477 [GRCh38]
Chr16:23614797..23614798 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.739_891dup (p.Thr247_Thr297dup) duplication Familial cancer of breast [RCV000705653] Chr16:23635654..23635655 [GRCh38]
Chr16:23646975..23646976 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1462A>C (p.Ser488Arg) single nucleotide variant Familial cancer of breast [RCV000703059]|Hereditary cancer-predisposing syndrome [RCV003165890] Chr16:23635084 [GRCh38]
Chr16:23646405 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1204C>A (p.Leu402Ile) single nucleotide variant Familial cancer of breast [RCV000688879] Chr16:23635342 [GRCh38]
Chr16:23646663 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1669T>C (p.Phe557Leu) single nucleotide variant Familial cancer of breast [RCV000691574]|Hereditary cancer-predisposing syndrome [RCV003584709]|not provided [RCV001030244]|not specified [RCV001192763] Chr16:23634877 [GRCh38]
Chr16:23646198 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.3262C>T (p.Pro1088Ser) single nucleotide variant Familial cancer of breast [RCV000691622]|Hereditary cancer-predisposing syndrome [RCV001019527] Chr16:23607952 [GRCh38]
Chr16:23619273 [GRCh37]
Chr16:16p12.2		 likely benign|uncertain significance
NM_024675.4(PALB2):c.2590C>A (p.Pro864Thr) single nucleotide variant Familial cancer of breast [RCV000694090] Chr16:23626394 [GRCh38]
Chr16:23637715 [GRCh37]
Chr16:16p12.2		 uncertain significance
NC_000016.10:g.(?_23613994)_(23626407_?)del deletion Familial cancer of breast [RCV000708069] Chr16:23613994..23626407 [GRCh38]
Chr16:23625315..23637728 [GRCh37]
Chr16:16p12.2		 likely pathogenic
NC_000016.9:g.(?_23619175)_(23619343_?)dup duplication Familial cancer of breast [RCV000708075] Chr16:23607854..23608022 [GRCh38]
Chr16:23619175..23619343 [GRCh37]
Chr16:16p12.2		 likely pathogenic
NM_024675.4(PALB2):c.977C>T (p.Ser326Leu) single nucleotide variant Familial cancer of breast [RCV000694139]|Hereditary cancer-predisposing syndrome [RCV002386209]|not provided [RCV001547138] Chr16:23635569 [GRCh38]
Chr16:23646890 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.3008dup (p.Asn1003fs) duplication Familial cancer of breast [RCV000684958]|Hereditary cancer-predisposing syndrome [RCV004944083] Chr16:23621466..23621467 [GRCh38]
Chr16:23632787..23632788 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.2824A>G (p.Arg942Gly) single nucleotide variant Familial cancer of breast [RCV000691828]|Hereditary cancer-predisposing syndrome [RCV001175785] Chr16:23624019 [GRCh38]
Chr16:23635340 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.590C>T (p.Thr197Ile) single nucleotide variant Familial cancer of breast [RCV000705972]|Hereditary cancer-predisposing syndrome [RCV002352213] Chr16:23635956 [GRCh38]
Chr16:23647277 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2984C>T (p.Ala995Val) single nucleotide variant Familial cancer of breast [RCV000685221]|Hereditary cancer-predisposing syndrome [RCV003584702] Chr16:23622981 [GRCh38]
Chr16:23634302 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1898A>G (p.Lys633Arg) single nucleotide variant Familial cancer of breast [RCV000691917]|Hereditary cancer-predisposing syndrome [RCV001525886] Chr16:23630256 [GRCh38]
Chr16:23641577 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.173T>C (p.Leu58Ser) single nucleotide variant Familial cancer of breast [RCV000691964]|Hereditary cancer-predisposing syndrome [RCV004944099] Chr16:23637888 [GRCh38]
Chr16:23649209 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.321T>G (p.Phe107Leu) single nucleotide variant Familial cancer of breast [RCV000706028]|Fanconi anemia complementation group N [RCV001825397]|Hereditary cancer-predisposing syndrome [RCV001189070] Chr16:23636225 [GRCh38]
Chr16:23647546 [GRCh37]
Chr16:16p12.2		 uncertain significance
NC_000016.10:g.(?_23623999)_(23626407_?)del deletion Familial cancer of breast [RCV000708331] Chr16:23623999..23626407 [GRCh38]
Chr16:23635320..23637728 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.838A>C (p.Asn280His) single nucleotide variant Familial cancer of breast [RCV000689373] Chr16:23635708 [GRCh38]
Chr16:23647029 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.265G>C (p.Asp89His) single nucleotide variant Familial cancer of breast [RCV000692121]|Hereditary cancer-predisposing syndrome [RCV001016143] Chr16:23636281 [GRCh38]
Chr16:23647602 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1784_1785delinsCG (p.Asp595Ala) indel Familial cancer of breast [RCV000700253] Chr16:23630369..23630370 [GRCh38]
Chr16:23641690..23641691 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.3340C>T (p.Gln1114Ter) single nucleotide variant Familial cancer of breast [RCV000700359]|Hereditary cancer-predisposing syndrome [RCV000708618] Chr16:23607874 [GRCh38]
Chr16:23619195 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic
NM_024675.4(PALB2):c.2540C>G (p.Ser847Cys) single nucleotide variant Familial cancer of breast [RCV000686106]|Familial cancer of breast [RCV002485597]|Hereditary cancer-predisposing syndrome [RCV001015881] Chr16:23629250 [GRCh38]
Chr16:23640571 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.2273C>T (p.Pro758Leu) single nucleotide variant Familial cancer of breast [RCV000700574]|Hereditary cancer-predisposing syndrome [RCV002442498]|PALB2-related disorder [RCV004527749]|not provided [RCV001284196] Chr16:23629881 [GRCh38]
Chr16:23641202 [GRCh37]
Chr16:16p12.2		 likely benign|uncertain significance
NM_024675.4(PALB2):c.829G>T (p.Asp277Tyr) single nucleotide variant Familial cancer of breast [RCV000706386]|Hereditary cancer-predisposing syndrome [RCV001027378] Chr16:23635717 [GRCh38]
Chr16:23647038 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.998C>T (p.Thr333Ile) single nucleotide variant Familial cancer of breast [RCV000692358] Chr16:23635548 [GRCh38]
Chr16:23646869 [GRCh37]
Chr16:16p12.2		 uncertain significance
NC_000016.9:g.(?_23614770)_(23615000_?)dup duplication Familial cancer of breast [RCV000708365] Chr16:23603449..23603679 [GRCh38]
Chr16:23614770..23615000 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.3537T>A (p.Asn1179Lys) single nucleotide variant Familial cancer of breast [RCV000686594] Chr16:23603483 [GRCh38]
Chr16:23614804 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1315G>C (p.Gly439Arg) single nucleotide variant Familial cancer of breast [RCV000701052]|Hereditary cancer-predisposing syndrome [RCV001192207] Chr16:23635231 [GRCh38]
Chr16:23646552 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.3433G>T (p.Gly1145Cys) single nucleotide variant Familial cancer of breast [RCV000692571]|Hereditary cancer-predisposing syndrome [RCV002458236]|PALB2-related disorder [RCV004527744] Chr16:23603587 [GRCh38]
Chr16:23614908 [GRCh37]
Chr16:16p12.2		 uncertain significance
NC_000016.10:g.(?_23603449)_(23603679_?)del deletion Familial cancer of breast [RCV000708508] Chr16:23603449..23603679 [GRCh38]
Chr16:23614770..23615000 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.10C>A (p.Pro4Thr) single nucleotide variant Familial cancer of breast [RCV000706431] Chr16:23641148 [GRCh38]
Chr16:23652469 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2813A>G (p.Asn938Ser) single nucleotide variant Familial cancer of breast [RCV000802486]|Hereditary cancer-predisposing syndrome [RCV000708729]|not provided [RCV002298749] Chr16:23624030 [GRCh38]
Chr16:23635351 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.1152A>G (p.Glu384=) single nucleotide variant Familial cancer of breast [RCV005422950]|Hereditary cancer-predisposing syndrome [RCV000708727] Chr16:23635394 [GRCh38]
Chr16:23646715 [GRCh37]
Chr16:16p12.2		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.3302_3303del (p.Leu1101fs) microsatellite Familial cancer of breast [RCV000697381]|Hereditary cancer-predisposing syndrome [RCV001176912] Chr16:23607911..23607912 [GRCh38]
Chr16:23619232..23619233 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.2006A>G (p.Glu669Gly) single nucleotide variant Familial cancer of breast [RCV000701660]|Hereditary cancer-predisposing syndrome [RCV001014045] Chr16:23630148 [GRCh38]
Chr16:23641469 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1346A>C (p.Lys449Thr) single nucleotide variant Familial cancer of breast [RCV000689628]|Hereditary cancer-predisposing syndrome [RCV002386183] Chr16:23635200 [GRCh38]
Chr16:23646521 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.350C>T (p.Pro117Leu) single nucleotide variant Familial cancer of breast [RCV000706656]|Hereditary cancer-predisposing syndrome [RCV002458319] Chr16:23636196 [GRCh38]
Chr16:23647517 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.611C>G (p.Ser204Cys) single nucleotide variant Familial cancer of breast [RCV000692658]|Hereditary cancer-predisposing syndrome [RCV002352143] Chr16:23635935 [GRCh38]
Chr16:23647256 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.3133C>T (p.Leu1045Phe) single nucleotide variant Familial cancer of breast [RCV000697436]|Hereditary cancer-predisposing syndrome [RCV001018761]|not provided [RCV001797130] Chr16:23614072 [GRCh38]
Chr16:23625393 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1138_1139del (p.Ser380_Leu381insTer) microsatellite Familial cancer of breast [RCV000697453]|Hereditary cancer-predisposing syndrome [RCV002257939] Chr16:23635407..23635408 [GRCh38]
Chr16:23646728..23646729 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic
NM_024675.4(PALB2):c.2531T>C (p.Leu844Pro) single nucleotide variant Familial cancer of breast [RCV000689844] Chr16:23629259 [GRCh38]
Chr16:23640580 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.410G>T (p.Gly137Val) single nucleotide variant Familial cancer of breast [RCV000692797] Chr16:23636136 [GRCh38]
Chr16:23647457 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.97G>C (p.Ala33Pro) single nucleotide variant Familial cancer of breast [RCV000689943]|Hereditary breast ovarian cancer syndrome [RCV003483707] Chr16:23638081 [GRCh38]
Chr16:23649402 [GRCh37]
Chr16:16p12.2		 likely benign|uncertain significance
NM_024675.4(PALB2):c.3547T>G (p.Tyr1183Asp) single nucleotide variant Familial cancer of breast [RCV000695107]|Hereditary cancer-predisposing syndrome [RCV001020571] Chr16:23603473 [GRCh38]
Chr16:23614794 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2080A>G (p.Thr694Ala) single nucleotide variant Familial cancer of breast [RCV000702228]|Hereditary cancer-predisposing syndrome [RCV001014361] Chr16:23630074 [GRCh38]
Chr16:23641395 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.3297_3301del (p.Thr1100fs) deletion Familial cancer of breast [RCV000704420]|Hereditary cancer-predisposing syndrome [RCV001019756] Chr16:23607913..23607917 [GRCh38]
Chr16:23619234..23619238 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.3342G>C (p.Gln1114His) single nucleotide variant Familial cancer of breast [RCV000707157]|Hereditary cancer-predisposing syndrome [RCV000776589] Chr16:23607872 [GRCh38]
Chr16:23619193 [GRCh37]
Chr16:16p12.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.494G>A (p.Gly165Asp) single nucleotide variant Familial cancer of breast [RCV000693175] Chr16:23636052 [GRCh38]
Chr16:23647373 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.712AGA[1] (p.Arg239del) microsatellite Familial cancer of breast [RCV000704567]|Hereditary cancer-predisposing syndrome [RCV001184088] Chr16:23635829..23635831 [GRCh38]
Chr16:23647150..23647152 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1150G>A (p.Glu384Lys) single nucleotide variant Familial cancer of breast [RCV000693232]|Familial cancer of breast [RCV002493183]|Hereditary cancer-predisposing syndrome [RCV001181141] Chr16:23635396 [GRCh38]
Chr16:23646717 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.1869_1874del (p.Leu624_Glu625del) deletion Familial cancer of breast [RCV000693307] Chr16:23630280..23630285 [GRCh38]
Chr16:23641601..23641606 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2587-6T>C single nucleotide variant Familial cancer of breast [RCV000690519] Chr16:23626403 [GRCh38]
Chr16:23637724 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.3350+6T>C single nucleotide variant Familial cancer of breast [RCV000704793] Chr16:23607858 [GRCh38]
Chr16:23619179 [GRCh37]
Chr16:16p12.2		 pathogenic|uncertain significance
NM_024675.4(PALB2):c.329G>A (p.Gly110Glu) single nucleotide variant Familial cancer of breast [RCV000693372] Chr16:23636217 [GRCh38]
Chr16:23647538 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.108+5G>A single nucleotide variant Familial cancer of breast [RCV000688342] Chr16:23638065 [GRCh38]
Chr16:23649386 [GRCh37]
Chr16:16p12.2		 likely benign|uncertain significance
NM_024675.4(PALB2):c.1585C>G (p.Pro529Ala) single nucleotide variant Familial cancer of breast [RCV000707654]|Hereditary cancer-predisposing syndrome [RCV002397492] Chr16:23634961 [GRCh38]
Chr16:23646282 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2762del (p.Gln921fs) deletion Familial cancer of breast [RCV000693774]|Hereditary cancer-predisposing syndrome [RCV001179107] Chr16:23624081 [GRCh38]
Chr16:23635402 [GRCh37]
Chr16:16p12.2		 pathogenic
NC_000016.10:g.(?_23603449)_(23626407_?)del deletion Familial cancer of breast [RCV000707762] Chr16:23603449..23626407 [GRCh38]
Chr16:23614770..23637728 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.3037A>G (p.Ile1013Val) single nucleotide variant Familial cancer of breast [RCV000695855]|Familial cancer of breast [RCV002507213]|Hereditary cancer-predisposing syndrome [RCV003362904]|not provided [RCV001030369] Chr16:23621438 [GRCh38]
Chr16:23632759 [GRCh37]
Chr16:16p12.2		 likely benign|uncertain significance
NM_024675.4(PALB2):c.2299G>C (p.Val767Leu) single nucleotide variant Familial cancer of breast [RCV000695964]|not provided [RCV001756208] Chr16:23629855 [GRCh38]
Chr16:23641176 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2363C>A (p.Thr788Asn) single nucleotide variant Familial cancer of breast [RCV000693835]|Hereditary cancer-predisposing syndrome [RCV002442454] Chr16:23629791 [GRCh38]
Chr16:23641112 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.802A>G (p.Lys268Glu) single nucleotide variant Familial cancer of breast [RCV000688929]|Hereditary cancer-predisposing syndrome [RCV000772300] Chr16:23635744 [GRCh38]
Chr16:23647065 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2186_2187del (p.Pro729fs) deletion Familial cancer of breast [RCV000691345] Chr16:23629967..23629968 [GRCh38]
Chr16:23641288..23641289 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.3362G>A (p.Gly1121Asp) single nucleotide variant Familial cancer of breast [RCV000699335]|Hereditary cancer-predisposing syndrome [RCV000774623] Chr16:23603658 [GRCh38]
Chr16:23614979 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1819C>A (p.Leu607Ile) single nucleotide variant Familial cancer of breast [RCV000698031] Chr16:23630335 [GRCh38]
Chr16:23641656 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.274dup (p.Thr92fs) duplication Familial cancer of breast [RCV000691368] Chr16:23636271..23636272 [GRCh38]
Chr16:23647592..23647593 [GRCh37]
Chr16:16p12.2		 pathogenic
NC_000016.10:g.(?_23634856)_(23641163_?)del deletion Familial cancer of breast [RCV000708114] Chr16:23634856..23641163 [GRCh38]
Chr16:23646177..23652484 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.3153T>G (p.Ile1051Met) single nucleotide variant Familial cancer of breast [RCV000696521]|Hereditary cancer-predisposing syndrome [RCV003163203] Chr16:23614052 [GRCh38]
Chr16:23625373 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.3053A>C (p.Glu1018Ala) single nucleotide variant Familial cancer of breast [RCV000699589]|Hereditary cancer-predisposing syndrome [RCV000773319]|not provided [RCV004696981] Chr16:23621422 [GRCh38]
Chr16:23632743 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.527T>C (p.Leu176Pro) single nucleotide variant Familial cancer of breast [RCV000691478] Chr16:23636019 [GRCh38]
Chr16:23647340 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.113C>T (p.Ala38Val) single nucleotide variant Familial cancer of breast [RCV000694173]|Familial cancer of breast [RCV002477574]|Hereditary cancer-predisposing syndrome [RCV000774648]|Ovarian cancer [RCV003153807] Chr16:23637948 [GRCh38]
Chr16:23649269 [GRCh37]
Chr16:16p12.2		 benign|uncertain significance
NC_000016.10:g.(?_23626226)_(23630479_?)del deletion Familial cancer of breast [RCV000708223] Chr16:23626226..23630479 [GRCh38]
Chr16:23637547..23641800 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.3038T>C (p.Ile1013Thr) single nucleotide variant Familial cancer of breast [RCV000696581]|Hereditary cancer-predisposing syndrome [RCV001018227] Chr16:23621437 [GRCh38]
Chr16:23632758 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2458G>A (p.Glu820Lys) single nucleotide variant Familial cancer of breast [RCV000696705]|Hereditary cancer-predisposing syndrome [RCV001180221]|PALB2-related disorder [RCV004527746] Chr16:23629696 [GRCh38]
Chr16:23641017 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1736C>T (p.Ala579Val) single nucleotide variant Familial cancer of breast [RCV000698506]|Familial pancreatic carcinoma [RCV005367514]|Hereditary cancer-predisposing syndrome [RCV002397433]|not provided [RCV004777842] Chr16:23630418 [GRCh38]
Chr16:23641739 [GRCh37]
Chr16:16p12.2		 uncertain significance
NC_000016.10:g.(?_23603449)_(23608022_?)del deletion Familial cancer of breast [RCV000708313] Chr16:23603449..23608022 [GRCh38]
Chr16:23614770..23619343 [GRCh37]
Chr16:16p12.2		 pathogenic
NC_000016.10:g.(?_23629194)_(23630479_?)del deletion Familial cancer of breast [RCV000708315] Chr16:23629194..23630479 [GRCh38]
Chr16:23640515..23641800 [GRCh37]
Chr16:16p12.2		 pathogenic
NC_000016.10:g.(?_23623999)_(23624104_?)del deletion Familial cancer of breast [RCV000708363] Chr16:23623999..23624104 [GRCh38]
Chr16:23635320..23635425 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.2996+3A>C single nucleotide variant Familial cancer of breast [RCV000686952]|Hereditary cancer-predisposing syndrome [RCV005384815]|not provided [RCV003478404] Chr16:23622966 [GRCh38]
Chr16:23634287 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.868G>T (p.Glu290Ter) single nucleotide variant Familial cancer of breast [RCV000794070]|Hereditary cancer-predisposing syndrome [RCV000708621] Chr16:23635678 [GRCh38]
Chr16:23646999 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.49-1G>A single nucleotide variant Familial cancer of breast [RCV005092051]|Hereditary cancer-predisposing syndrome [RCV000708620] Chr16:23638130 [GRCh38]
Chr16:23649451 [GRCh37]
Chr16:16p12.2		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.2278C>T (p.Leu760Phe) single nucleotide variant Familial cancer of breast [RCV000689420]|Hereditary cancer-predisposing syndrome [RCV000772877] Chr16:23629876 [GRCh38]
Chr16:23641197 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1152del (p.Ala385fs) deletion Familial cancer of breast [RCV000706271]|Hereditary cancer-predisposing syndrome [RCV002360830] Chr16:23635394 [GRCh38]
Chr16:23646715 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.3242A>G (p.Glu1081Gly) single nucleotide variant Familial cancer of breast [RCV000706354]|Hereditary cancer-predisposing syndrome [RCV002442535] Chr16:23607972 [GRCh38]
Chr16:23619293 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.3329_3331del (p.Leu1110del) deletion not provided [RCV000722935] Chr16:23607883..23607885 [GRCh38]
Chr16:23619204..23619206 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.682del (p.Gln228fs) deletion Familial cancer of breast [RCV003453606]|Hereditary cancer-predisposing syndrome [RCV000776407]|PALB2-related disorder [RCV004740447] Chr16:23635864 [GRCh38]
Chr16:23647185 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic
NM_024675.4(PALB2):c.3164dup (p.Tyr1055Ter) duplication Familial cancer of breast [RCV003453538]|Hereditary cancer-predisposing syndrome [RCV000755034] Chr16:23614040..23614041 [GRCh38]
Chr16:23625361..23625362 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90163275)x3 copy number gain not provided [RCV000738917] Chr16:88165..90163275 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
NM_024675.4(PALB2):c.2270C>T (p.Thr757Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002449375]|not provided [RCV001571386] Chr16:23629884 [GRCh38]
Chr16:23641205 [GRCh37]
Chr16:16p12.2		 uncertain significance
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90274695)x3 copy number gain not provided [RCV000738918] Chr16:88165..90274695 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:61451-90294632)x3 copy number gain not provided [RCV000738915] Chr16:61451..90294632 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
NM_024675.4(PALB2):c.2136G>T (p.Ala712=) single nucleotide variant Familial cancer of breast [RCV005423955]|Hereditary cancer-predisposing syndrome [RCV003584878]|not provided [RCV001284031] Chr16:23630018 [GRCh38]
Chr16:23641339 [GRCh37]
Chr16:16p12.2		 benign|uncertain significance
NM_024675.4(PALB2):c.2878C>T (p.Leu960=) single nucleotide variant Familial cancer of breast [RCV002069504]|not provided [RCV001284199] Chr16:23623087 [GRCh38]
Chr16:23634408 [GRCh37]
Chr16:16p12.2		 likely benign|uncertain significance
NM_024675.4(PALB2):c.3288C>T (p.Asn1096=) single nucleotide variant Familial cancer of breast [RCV001501000]|Hereditary cancer-predisposing syndrome [RCV003584780] Chr16:23607926 [GRCh38]
Chr16:23619247 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.1684+238del deletion not provided [RCV001585033] Chr16:23634624 [GRCh38]
Chr16:23645945 [GRCh37]
Chr16:16p12.2		 likely benign
NM_024675.4(PALB2):c.3351-53del deletion not provided [RCV001610171] Chr16:23603722 [GRCh38]
Chr16:23615043 [GRCh37]
Chr16:16p12.2		 benign
NM_024675.4(PALB2):c.1665A>G (p.Lys555=) single nucleotide variant Familial cancer of breast [RCV001476960]|Hereditary cancer-predisposing syndrome [RCV002400140] Chr16:23634881 [GRCh38]
Chr16:23646202 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.2784G>T (p.Val928=) single nucleotide variant Familial cancer of breast [RCV005421024]|not provided [RCV001586216] Chr16:23624059 [GRCh38]
Chr16:23635380 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.1080C>T (p.Asp360=) single nucleotide variant Familial cancer of breast [RCV000917885]|Hereditary cancer-predisposing syndrome [RCV001009845] Chr16:23635466 [GRCh38]
Chr16:23646787 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.2192T>G (p.Leu731Ter) single nucleotide variant Familial cancer of breast [RCV001855858]|Hereditary cancer-predisposing syndrome [RCV000755035]|not provided [RCV001354086] Chr16:23629962 [GRCh38]
Chr16:23641283 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic
NM_024675.4(PALB2):c.1046A>C (p.Asn349Thr) single nucleotide variant Familial cancer of breast [RCV000806524]|Hereditary cancer-predisposing syndrome [RCV003279043]|not provided [RCV000759891] Chr16:23635500 [GRCh38]
Chr16:23646821 [GRCh37]
Chr16:16p12.2		 likely benign|uncertain significance
NM_024675.4(PALB2):c.1525G>T (p.Gly509Cys) single nucleotide variant Familial cancer of breast [RCV005092187]|Hereditary cancer-predisposing syndrome [RCV003362931]|not provided [RCV000759894] Chr16:23635021 [GRCh38]
Chr16:23646342 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1551_1552del (p.Lys517fs) deletion Hereditary cancer-predisposing syndrome [RCV001012123]|not provided [RCV000759895] Chr16:23634994..23634995 [GRCh38]
Chr16:23646315..23646316 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.2678A>T (p.Asp893Val) single nucleotide variant Familial cancer of breast [RCV003607343]|Hereditary cancer-predisposing syndrome [RCV001016288]|not provided [RCV000759900] Chr16:23626306 [GRCh38]
Chr16:23637627 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2560A>C (p.Asn854His) single nucleotide variant not provided [RCV000759898] Chr16:23629230 [GRCh38]
Chr16:23640551 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1673T>C (p.Ile558Thr) single nucleotide variant Familial cancer of breast [RCV001340380]|Hereditary cancer-predisposing syndrome [RCV003166013]|not provided [RCV000759897] Chr16:23634873 [GRCh38]
Chr16:23646194 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2484C>G (p.Cys828Trp) single nucleotide variant not provided [RCV000762215] Chr16:23629670 [GRCh38]
Chr16:23640991 [GRCh37]
Chr16:16p12.2		 uncertain significance
GRCh37/hg19 16p12.2-11.2(chr16:21475039-29043958)x1 copy number loss Chromosome 16p12.2-p11.2 deletion syndrome [RCV003315282] Chr16:21475039..29043958 [GRCh37]
Chr16:16p12.2-11.2		 pathogenic
NM_024675.4(PALB2):c.1684+183TAAA[9] microsatellite not provided [RCV001645784] Chr16:23634640..23634643 [GRCh38]
Chr16:23645961..23645964 [GRCh37]
Chr16:16p12.2		 benign
NC_000016.10:g.(?_23603449)_(23641167_?)del deletion Familial cancer of breast [RCV001032011] Chr16:23614770..23652488 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.1389dup (p.Arg464Ter) duplication Breast carcinoma [RCV001554338] Chr16:23635156..23635157 [GRCh38]
Chr16:23646477..23646478 [GRCh37]
Chr16:16p12.2		 likely pathogenic
NM_024675.4(PALB2):c.1990del (p.Met664fs) deletion Familial cancer of breast [RCV001066073] Chr16:23630164 [GRCh38]
Chr16:23641485 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.3202-4T>C single nucleotide variant Familial cancer of breast [RCV001411007]|Hereditary cancer-predisposing syndrome [RCV001019202]|not provided [RCV001284320] Chr16:23608016 [GRCh38]
Chr16:23619337 [GRCh37]
Chr16:16p12.2		 likely benign|uncertain significance
NG_007406.1:g.(5249_8228)_(17155_19960)del deletion Fanconi anemia complementation group N [RCV001030111] Chr16:23640524..23649451 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.696dup (p.Val233fs) duplication Familial cancer of breast [RCV001030166] Chr16:23635849..23635850 [GRCh38]
Chr16:23647170..23647171 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.759dup (p.Ser254fs) duplication Familial cancer of breast [RCV001030173] Chr16:23635786..23635787 [GRCh38]
Chr16:23647107..23647108 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.2496_2513del (p.His832_Glu837del) deletion Familial cancer of breast [RCV001047761]|not provided [RCV001030311] Chr16:23629641..23629658 [GRCh38]
Chr16:23640962..23640979 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.3113+1376C>G single nucleotide variant Familial cancer of breast [RCV001030383]|not provided [RCV004716654]|not specified [RCV002249636] Chr16:23619986 [GRCh38]
Chr16:23631307 [GRCh37]
Chr16:16p12.2		 pathogenic|benign
NM_024675.4(PALB2):c.3294_3298del (p.Lys1098fs) deletion Fanconi anemia complementation group N [RCV001030405] Chr16:23607916..23607920 [GRCh38]
Chr16:23619237..23619241 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.2827_2830del (p.Glu943fs) microsatellite Familial cancer of breast [RCV001045281]|Gastric cancer [RCV003160336]|Hereditary cancer-predisposing syndrome [RCV002436571]|not provided [RCV004998596] Chr16:23624013..23624016 [GRCh38]
Chr16:23635334..23635337 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic
NC_000016.10:g.(?_23621352)_(23626407_?)del deletion Familial cancer of breast [RCV001031433] Chr16:23632673..23637728 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.2514+2T>C single nucleotide variant not provided [RCV000786800] Chr16:23629638 [GRCh38]
Chr16:23640959 [GRCh37]
Chr16:16p12.2		 pathogenic|not provided
NM_024675.3(PALB2):c.2835-324_3202-1757dup duplication Familial cancer of breast [RCV001031018] Chr16:23609769..23623454 [GRCh38]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.2835-72_2835-71del deletion not provided [RCV001612156] Chr16:23623201..23623202 [GRCh38]
Chr16:23634522..23634523 [GRCh37]
Chr16:16p12.2		 benign
NM_024675.4(PALB2):c.2463delinsAA (p.Asn821fs) indel Familial cancer of breast [RCV003452251] Chr16:23629691 [GRCh38]
Chr16:23641012 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic
NC_000016.10:g.(?_23603313)_(23608022_?)del deletion Familial cancer of breast [RCV001031748] Chr16:23614634..23619343 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.1506G>A (p.Lys502=) single nucleotide variant Familial cancer of breast [RCV000924767] Chr16:23635040 [GRCh38]
Chr16:23646361 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.212-8C>T single nucleotide variant Familial cancer of breast [RCV000989579] Chr16:23636342 [GRCh38]
Chr16:23647663 [GRCh37]
Chr16:16p12.2		 likely benign
NM_024675.4(PALB2):c.2148T>C (p.Asn716=) single nucleotide variant Familial cancer of breast [RCV000928489]|Hereditary cancer-predisposing syndrome [RCV002427305]|not provided [RCV005427383] Chr16:23630006 [GRCh38]
Chr16:23641327 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.915A>T (p.Val305=) single nucleotide variant Familial cancer of breast [RCV001471589] Chr16:23635631 [GRCh38]
Chr16:23646952 [GRCh37]
Chr16:16p12.2		 likely benign
NM_024675.4(PALB2):c.333T>C (p.Asp111=) single nucleotide variant Familial cancer of breast [RCV001400238]|Hereditary cancer-predisposing syndrome [RCV001181953] Chr16:23636213 [GRCh38]
Chr16:23647534 [GRCh37]
Chr16:16p12.2		 likely benign
NM_024675.4(PALB2):c.1773A>G (p.Pro591=) single nucleotide variant Familial cancer of breast [RCV001471088]|Hereditary cancer-predisposing syndrome [RCV002409196]|not specified [RCV003321763] Chr16:23630381 [GRCh38]
Chr16:23641702 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.2515-6T>C single nucleotide variant Familial cancer of breast [RCV001459652]|not specified [RCV003323771] Chr16:23629281 [GRCh38]
Chr16:23640602 [GRCh37]
Chr16:16p12.2		 likely benign|uncertain significance
NM_024675.4(PALB2):c.1621A>C (p.Arg541=) single nucleotide variant Familial cancer of breast [RCV001407327]|Hereditary cancer-predisposing syndrome [RCV001805944]|not provided [RCV000966551] Chr16:23634925 [GRCh38]
Chr16:23646246 [GRCh37]
Chr16:16p12.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.1305C>T (p.Val435=) single nucleotide variant Familial cancer of breast [RCV001404697]|Hereditary cancer-predisposing syndrome [RCV002382162] Chr16:23635241 [GRCh38]
Chr16:23646562 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.1215T>G (p.Pro405=) single nucleotide variant Familial cancer of breast [RCV001412711] Chr16:23635331 [GRCh38]
Chr16:23646652 [GRCh37]
Chr16:16p12.2		 likely benign
NM_024675.4(PALB2):c.172T>C (p.Leu58=) single nucleotide variant Familial cancer of breast [RCV001406003]|Hereditary cancer-predisposing syndrome [RCV003363007] Chr16:23637889 [GRCh38]
Chr16:23649210 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.2815T>C (p.Leu939=) single nucleotide variant Familial cancer of breast [RCV000983752] Chr16:23624028 [GRCh38]
Chr16:23635349 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.2998G>A (p.Gly1000Ser) single nucleotide variant Familial cancer of breast [RCV001036729] Chr16:23621477 [GRCh38]
Chr16:23632798 [GRCh37]
Chr16:16p12.2		 uncertain significance
NC_000016.9:g.21530207_29332245del deletion not provided [RCV001030428] Chr16:21530207..29332245 [GRCh37]
Chr16:16p12.2-11.2		 pathogenic
NM_024675.4(PALB2):c.3536A>G (p.Asn1179Ser) single nucleotide variant Familial cancer of breast [RCV001873334]|Hereditary cancer-predisposing syndrome [RCV001020549] Chr16:23603484 [GRCh38]
Chr16:23614805 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.398G>C (p.Ser133Thr) single nucleotide variant Chordoma [RCV002267068]|Familial cancer of breast [RCV001038666]|Hereditary cancer-predisposing syndrome [RCV001178878] Chr16:23636148 [GRCh38]
Chr16:23647469 [GRCh37]
Chr16:16p12.2		 likely benign|uncertain significance
NM_024675.4(PALB2):c.2922G>C (p.Lys974Asn) single nucleotide variant Familial cancer of breast [RCV001058172] Chr16:23623043 [GRCh38]
Chr16:23634364 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1553C>T (p.Ser518Leu) single nucleotide variant Familial cancer of breast [RCV001036902] Chr16:23634993 [GRCh38]
Chr16:23646314 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1921A>G (p.Lys641Glu) single nucleotide variant not provided [RCV001030269] Chr16:23630233 [GRCh38]
Chr16:23641554 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2083A>T (p.Lys695Ter) single nucleotide variant Familial cancer of breast [RCV003455145]|not provided [RCV001030276] Chr16:23630071 [GRCh38]
Chr16:23641392 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.3499A>C (p.Thr1167Pro) single nucleotide variant not provided [RCV001030421] Chr16:23603521 [GRCh38]
Chr16:23614842 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.3549C>T (p.Tyr1183=) single nucleotide variant not provided [RCV001030424] Chr16:23603471 [GRCh38]
Chr16:23614792 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2302T>C (p.Cys768Arg) single nucleotide variant Familial cancer of breast [RCV001321770]|Hereditary cancer-predisposing syndrome [RCV001015013]|not provided [RCV003389728] Chr16:23629852 [GRCh38]
Chr16:23641173 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.91A>G (p.Thr31Ala) single nucleotide variant Familial cancer of breast [RCV001055209]|Hereditary cancer-predisposing syndrome [RCV002445290] Chr16:23638087 [GRCh38]
Chr16:23649408 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1480A>G (p.Thr494Ala) single nucleotide variant Familial cancer of breast [RCV001051470]|Hereditary cancer [RCV004702605]|Hereditary cancer-predisposing syndrome [RCV002393258] Chr16:23635066 [GRCh38]
Chr16:23646387 [GRCh37]
Chr16:16p12.2		 likely benign|uncertain significance
NM_024675.4(PALB2):c.3540A>G (p.Ile1180Met) single nucleotide variant Breast and/or ovarian cancer [RCV001799027]|not provided [RCV001030423] Chr16:23603480 [GRCh38]
Chr16:23614801 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.3552C>G (p.His1184Gln) single nucleotide variant not provided [RCV001030425] Chr16:23603468 [GRCh38]
Chr16:23614789 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.3453C>T (p.Leu1151=) single nucleotide variant Familial cancer of breast [RCV002552040]|Hereditary cancer-predisposing syndrome [RCV002454256]|not provided [RCV001030418] Chr16:23603567 [GRCh38]
Chr16:23614888 [GRCh37]
Chr16:16p12.2		 likely benign|uncertain significance
NM_024675.4(PALB2):c.3537_3542delinsAA (p.Asn1179fs) indel Hereditary cancer-predisposing syndrome [RCV001020550] Chr16:23603478..23603483 [GRCh38]
Chr16:23614799..23614804 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2587A>G (p.Asn863Asp) single nucleotide variant Familial cancer of breast [RCV001038715]|Hereditary cancer-predisposing syndrome [RCV002454280] Chr16:23626397 [GRCh38]
Chr16:23637718 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.3086C>T (p.Thr1029Ile) single nucleotide variant Familial cancer of breast [RCV001062146]|Hereditary cancer-predisposing syndrome [RCV003160502] Chr16:23621389 [GRCh38]
Chr16:23632710 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1988dup (p.Met664fs) duplication Familial cancer of breast [RCV001062175]|Hereditary cancer-predisposing syndrome [RCV005055451]|not provided [RCV002268424] Chr16:23630165..23630166 [GRCh38]
Chr16:23641486..23641487 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.1652A>G (p.Tyr551Cys) single nucleotide variant Familial cancer of breast [RCV001062287]|Hereditary cancer-predisposing syndrome [RCV002393305] Chr16:23634894 [GRCh38]
Chr16:23646215 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2997-3C>G single nucleotide variant Familial cancer of breast [RCV001051571] Chr16:23621481 [GRCh38]
Chr16:23632802 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.3551del (p.His1184fs) deletion Familial cancer of breast [RCV001229333]|Hereditary cancer-predisposing syndrome [RCV001020590] Chr16:23603469 [GRCh38]
Chr16:23614790 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.961T>G (p.Leu321Val) single nucleotide variant Familial cancer of breast [RCV001053032] Chr16:23635585 [GRCh38]
Chr16:23646906 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2762A>C (p.Gln921Pro) single nucleotide variant Familial cancer of breast [RCV001061633] Chr16:23624081 [GRCh38]
Chr16:23635402 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1061C>A (p.Ser354Tyr) single nucleotide variant Familial cancer of breast [RCV001049498] Chr16:23635485 [GRCh38]
Chr16:23646806 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2399G>C (p.Cys800Ser) single nucleotide variant Familial cancer of breast [RCV001035292]|Hereditary cancer-predisposing syndrome [RCV002445207] Chr16:23629755 [GRCh38]
Chr16:23641076 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1356_2586+201del deletion Familial cancer of breast [RCV001058567] Chr16:23629003..23635190 [GRCh38]
Chr16:23640324..23646511 [GRCh37]
Chr16:16p12.2		 likely pathogenic
NM_024675.4(PALB2):c.2923_2924del (p.Arg975fs) microsatellite Familial cancer of breast [RCV001071265] Chr16:23623041..23623042 [GRCh38]
Chr16:23634362..23634363 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.1988G>A (p.Arg663His) single nucleotide variant Familial cancer of breast [RCV001061994]|Hereditary cancer-predisposing syndrome [RCV002418525]|not specified [RCV003323791] Chr16:23630166 [GRCh38]
Chr16:23641487 [GRCh37]
Chr16:16p12.2		 likely benign|uncertain significance
NC_000016.10:g.(?_23603313)_(23603679_?)dup duplication Familial cancer of breast [RCV001033418] Chr16:23614634..23615000 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1568C>G (p.Ala523Gly) single nucleotide variant Familial cancer of breast [RCV001071418]|Hereditary cancer-predisposing syndrome [RCV004030790] Chr16:23634978 [GRCh38]
Chr16:23646299 [GRCh37]
Chr16:16p12.2		 likely benign|uncertain significance
NM_024675.4(PALB2):c.700G>C (p.Asp234His) single nucleotide variant Familial cancer of breast [RCV001056514] Chr16:23635846 [GRCh38]
Chr16:23647167 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1837C>G (p.Gln613Glu) single nucleotide variant Familial cancer of breast [RCV001056515]|Hereditary cancer-predisposing syndrome [RCV002409463]|Malignant tumor of breast [RCV001356102] Chr16:23630317 [GRCh38]
Chr16:23641638 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.728C>T (p.Thr243Ile) single nucleotide variant Familial cancer of breast [RCV001051761]|Hereditary cancer-predisposing syndrome [RCV005394683] Chr16:23635818 [GRCh38]
Chr16:23647139 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2716del (p.Trp906fs) deletion Familial cancer of breast [RCV001048107] Chr16:23626268 [GRCh38]
Chr16:23637589 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.-2C>G single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004944771]|not provided [RCV001030101] Chr16:23641159 [GRCh38]
Chr16:23652480 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.3457C>T (p.Pro1153Ser) single nucleotide variant Familial cancer of breast [RCV001037506]|Hereditary cancer-predisposing syndrome [RCV002454271] Chr16:23603563 [GRCh38]
Chr16:23614884 [GRCh37]
Chr16:16p12.2		 uncertain significance
NC_000016.10:g.(?_23621352)_(23624104_?)dup duplication Familial cancer of breast [RCV001032494] Chr16:23632673..23635425 [GRCh37]
Chr16:16p12.2		 likely pathogenic
NM_024675.4(PALB2):c.1706A>C (p.Lys569Thr) single nucleotide variant Familial cancer of breast [RCV001035960]|Hereditary cancer-predisposing syndrome [RCV003363049]|not provided [RCV001560084] Chr16:23630448 [GRCh38]
Chr16:23641769 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1153G>A (p.Ala385Thr) single nucleotide variant Familial cancer of breast [RCV001052293]|Hereditary cancer-predisposing syndrome [RCV004944813] Chr16:23635393 [GRCh38]
Chr16:23646714 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2220A>C (p.Gln740His) single nucleotide variant Familial cancer of breast [RCV001038086]|Hereditary cancer-predisposing syndrome [RCV001185460] Chr16:23629934 [GRCh38]
Chr16:23641255 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.678T>A (p.Thr226=) single nucleotide variant Familial cancer of breast [RCV001042954] Chr16:23635868 [GRCh38]
Chr16:23647189 [GRCh37]
Chr16:16p12.2		 likely benign|uncertain significance
NM_024675.4(PALB2):c.413_414dup (p.Gln139fs) duplication Familial cancer of breast [RCV003316958] Chr16:23636131..23636132 [GRCh38]
Chr16:23647452..23647453 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.2549T>G (p.Ile850Arg) single nucleotide variant Familial cancer of breast [RCV001059849]|Hereditary cancer-predisposing syndrome [RCV003584811] Chr16:23629241 [GRCh38]
Chr16:23640562 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1319_1320insSVAelement insertion Familial cancer of breast [RCV001089796] Chr16:23635226..23635227 [GRCh38]
Chr16:23646547..23646548 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.1499C>T (p.Ser500Phe) single nucleotide variant Familial cancer of breast [RCV001052440] Chr16:23635047 [GRCh38]
Chr16:23646368 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.647T>C (p.Ile216Thr) single nucleotide variant Familial cancer of breast [RCV001039734]|Hereditary cancer-predisposing syndrome [RCV004944785] Chr16:23635899 [GRCh38]
Chr16:23647220 [GRCh37]
Chr16:16p12.2		 likely benign|uncertain significance
NM_024675.4(PALB2):c.679G>C (p.Ala227Pro) single nucleotide variant not provided [RCV001030164] Chr16:23635867 [GRCh38]
Chr16:23647188 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.695G>A (p.Gly232Asp) single nucleotide variant not provided [RCV001030165] Chr16:23635851 [GRCh38]
Chr16:23647172 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2144A>G (p.Asp715Gly) single nucleotide variant not provided [RCV001030282] Chr16:23630010 [GRCh38]
Chr16:23641331 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2160C>T (p.Thr720=) single nucleotide variant Familial cancer of breast [RCV005423834]|not provided [RCV001030284] Chr16:23629994 [GRCh38]
Chr16:23641315 [GRCh37]
Chr16:16p12.2		 benign|uncertain significance
NM_024675.4(PALB2):c.2206G>T (p.Ala736Ser) single nucleotide variant not provided [RCV001030286] Chr16:23629948 [GRCh38]
Chr16:23641269 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1099G>A (p.Glu367Lys) single nucleotide variant Familial cancer of breast [RCV001037865] Chr16:23635447 [GRCh38]
Chr16:23646768 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.298C>G (p.Leu100Val) single nucleotide variant Familial cancer of breast [RCV001054341] Chr16:23636248 [GRCh38]
Chr16:23647569 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2514+1G>A single nucleotide variant Familial cancer of breast [RCV001069194]|Hereditary cancer-predisposing syndrome [RCV001187628] Chr16:23629639 [GRCh38]
Chr16:23640960 [GRCh37]
Chr16:16p12.2		 likely pathogenic
NM_024675.4(PALB2):c.1501A>G (p.Arg501Gly) single nucleotide variant Familial cancer of breast [RCV001048955]|Hereditary cancer-predisposing syndrome [RCV003363076] Chr16:23635045 [GRCh38]
Chr16:23646366 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.211+2T>C single nucleotide variant Familial cancer of breast [RCV001036628] Chr16:23637848 [GRCh38]
Chr16:23649169 [GRCh37]
Chr16:16p12.2		 likely pathogenic
NM_024675.4(PALB2):c.2272C>T (p.Pro758Ser) single nucleotide variant not provided [RCV001030293] Chr16:23629882 [GRCh38]
Chr16:23641203 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2373G>A (p.Val791=) single nucleotide variant not provided [RCV001030302] Chr16:23629781 [GRCh38]
Chr16:23641102 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2383C>A (p.Gln795Lys) single nucleotide variant not provided [RCV001030303] Chr16:23629771 [GRCh38]
Chr16:23641092 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2426C>T (p.Thr809Ile) single nucleotide variant not provided [RCV001030307] Chr16:23629728 [GRCh38]
Chr16:23641049 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2525C>G (p.Ala842Gly) single nucleotide variant not provided [RCV001030319] Chr16:23629265 [GRCh38]
Chr16:23640586 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2540C>T (p.Ser847Phe) single nucleotide variant Familial cancer of breast [RCV005056795]|not provided [RCV001030320] Chr16:23629250 [GRCh38]
Chr16:23640571 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2554C>A (p.Pro852Thr) single nucleotide variant not provided [RCV001030321] Chr16:23629236 [GRCh38]
Chr16:23640557 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2562C>T (p.Asn854=) single nucleotide variant Familial cancer of breast [RCV002552436]|not provided [RCV001030322] Chr16:23629228 [GRCh38]
Chr16:23640549 [GRCh37]
Chr16:16p12.2		 benign|likely benign|uncertain significance
NM_024675.4(PALB2):c.3039A>T (p.Ile1013=) single nucleotide variant not provided [RCV001030370] Chr16:23621436 [GRCh38]
Chr16:23632757 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2235del (p.Ala746fs) deletion Familial cancer of breast [RCV001253549]|Gastric cancer [RCV003160194]|not provided [RCV001030289] Chr16:23629919 [GRCh38]
Chr16:23641240 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.2242A>G (p.Thr748Ala) single nucleotide variant Familial cancer of breast [RCV005093298]|Hereditary cancer-predisposing syndrome [RCV002427473]|not provided [RCV001030290] Chr16:23629912 [GRCh38]
Chr16:23641233 [GRCh37]
Chr16:16p12.2		 likely benign|uncertain significance
NM_024675.4(PALB2):c.2834+19G>A single nucleotide variant Familial cancer of breast [RCV002061068]|Hereditary cancer-predisposing syndrome [RCV000772396] Chr16:23623990 [GRCh38]
Chr16:23635311 [GRCh37]
Chr16:16p12.2		 likely benign
NM_024675.4(PALB2):c.1532G>T (p.Arg511Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000772428] Chr16:23635014 [GRCh38]
Chr16:23646335 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.511T>C (p.Leu171=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000772437] Chr16:23636035 [GRCh38]
Chr16:23647356 [GRCh37]
Chr16:16p12.2		 likely benign
NM_024675.4(PALB2):c.2317A>G (p.Thr773Ala) single nucleotide variant Familial cancer of breast [RCV002534023]|Hereditary cancer-predisposing syndrome [RCV000772532]|not provided [RCV003229861] Chr16:23629837 [GRCh38]
Chr16:23641158 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2441A>T (p.Glu814Val) single nucleotide variant Familial cancer of breast [RCV005092234]|Hereditary cancer-predisposing syndrome [RCV000772540] Chr16:23629713 [GRCh38]
Chr16:23641034 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.3202-17_3202-16insA insertion Hereditary cancer-predisposing syndrome [RCV000772541] Chr16:23608028..23608029 [GRCh38]
Chr16:23619349..23619350 [GRCh37]
Chr16:16p12.2		 likely benign
NM_024675.4(PALB2):c.3201+6T>A single nucleotide variant Familial cancer of breast [RCV001041333]|Hereditary cancer-predisposing syndrome [RCV000772550]|not provided [RCV001585698] Chr16:23613998 [GRCh38]
Chr16:23625319 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2871G>A (p.Lys957=) single nucleotide variant Familial cancer of breast [RCV001433030]|Hereditary cancer-predisposing syndrome [RCV000772606] Chr16:23623094 [GRCh38]
Chr16:23634415 [GRCh37]
Chr16:16p12.2		 likely benign
NM_024675.4(PALB2):c.983C>T (p.Ser328Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000772618] Chr16:23635563 [GRCh38]
Chr16:23646884 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2136G>C (p.Ala712=) single nucleotide variant Familial cancer of breast [RCV005427278]|Hereditary cancer-predisposing syndrome [RCV000774795] Chr16:23630018 [GRCh38]
Chr16:23641339 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.1156A>T (p.Thr386Ser) single nucleotide variant Familial cancer of breast [RCV000817409]|Hereditary cancer-predisposing syndrome [RCV000774803] Chr16:23635390 [GRCh38]
Chr16:23646711 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.3499A>G (p.Thr1167Ala) single nucleotide variant Familial cancer of breast [RCV000793694] Chr16:23603521 [GRCh38]
Chr16:23614842 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.3470A>C (p.Gln1157Pro) single nucleotide variant Familial cancer of breast [RCV002534031]|Hereditary cancer-predisposing syndrome [RCV000772709] Chr16:23603550 [GRCh38]
Chr16:23614871 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2414T>A (p.Val805Asp) single nucleotide variant Familial cancer of breast [RCV003607346]|Hereditary cancer-predisposing syndrome [RCV000772795] Chr16:23629740 [GRCh38]
Chr16:23641061 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.163C>G (p.Gln55Glu) single nucleotide variant Familial cancer of breast [RCV001850966]|Hereditary cancer-predisposing syndrome [RCV000772804] Chr16:23637898 [GRCh38]
Chr16:23649219 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.3458C>T (p.Pro1153Leu) single nucleotide variant Familial cancer of breast [RCV001850967]|Hereditary cancer-predisposing syndrome [RCV000772811]|not specified [RCV002465768] Chr16:23603562 [GRCh38]
Chr16:23614883 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1954A>G (p.Ser652Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000772813] Chr16:23630200 [GRCh38]
Chr16:23641521 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.3431T>C (p.Leu1144Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000772818] Chr16:23603589 [GRCh38]
Chr16:23614910 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1013C>T (p.Pro338Leu) single nucleotide variant Familial cancer of breast [RCV001856030]|Hereditary cancer-predisposing syndrome [RCV000772843] Chr16:23635533 [GRCh38]
Chr16:23646854 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.73A>T (p.Lys25Ter) single nucleotide variant Familial cancer of breast [RCV001030115]|Hereditary breast ovarian cancer syndrome [RCV003155956]|Hereditary cancer-predisposing syndrome [RCV000772890] Chr16:23638105 [GRCh38]
Chr16:23649426 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.1296T>C (p.His432=) single nucleotide variant Familial cancer of breast [RCV005092243]|Hereditary cancer-predisposing syndrome [RCV000772893] Chr16:23635250 [GRCh38]
Chr16:23646571 [GRCh37]
Chr16:16p12.2		 likely benign
NM_024675.4(PALB2):c.2872C>G (p.Gln958Glu) single nucleotide variant Familial cancer of breast [RCV001324178]|Hereditary cancer-predisposing syndrome [RCV000772897] Chr16:23623093 [GRCh38]
Chr16:23634414 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2866G>T (p.Glu956Ter) single nucleotide variant Familial cancer of breast [RCV001388158]|Hereditary cancer-predisposing syndrome [RCV000772898] Chr16:23623099 [GRCh38]
Chr16:23634420 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic
NM_024675.4(PALB2):c.3350+14A>G single nucleotide variant Familial cancer of breast [RCV003768334]|Hereditary cancer-predisposing syndrome [RCV000772925] Chr16:23607850 [GRCh38]
Chr16:23619171 [GRCh37]
Chr16:16p12.2		 likely benign
NM_024675.4(PALB2):c.3129T>C (p.Gly1043=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000772958] Chr16:23614076 [GRCh38]
Chr16:23625397 [GRCh37]
Chr16:16p12.2		 likely benign
NM_024675.4(PALB2):c.2759T>G (p.Leu920Ter) single nucleotide variant Familial cancer of breast [RCV000780562]|Hereditary cancer-predisposing syndrome [RCV002440616] Chr16:23624084 [GRCh38]
Chr16:23635405 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic
NM_024675.4(PALB2):c.761C>G (p.Ser254Ter) single nucleotide variant Familial cancer of breast [RCV000780563]|Hereditary cancer-predisposing syndrome [RCV001026625]|Uterine corpus cancer [RCV003128160] Chr16:23635785 [GRCh38]
Chr16:23647106 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic
NM_024675.4(PALB2):c.2616G>T (p.Val872=) single nucleotide variant Familial cancer of breast [RCV001078566]|Hereditary cancer-predisposing syndrome [RCV002440617]|not provided [RCV000878247]|not specified [RCV000780565] Chr16:23626368 [GRCh38]
Chr16:23637689 [GRCh37]
Chr16:16p12.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.2990A>G (p.Asp997Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000773043] Chr16:23622975 [GRCh38]
Chr16:23634296 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.207C>A (p.His69Gln) single nucleotide variant Familial cancer of breast [RCV001042330]|Hereditary cancer-predisposing syndrome [RCV000773047] Chr16:23637854 [GRCh38]
Chr16:23649175 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1685-1G>A single nucleotide variant Familial cancer of breast [RCV001064056]|Hereditary cancer-predisposing syndrome [RCV000773053] Chr16:23630470 [GRCh38]
Chr16:23641791 [GRCh37]
Chr16:16p12.2		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.1729A>G (p.Asn577Asp) single nucleotide variant Familial cancer of breast [RCV001065828]|Hereditary cancer-predisposing syndrome [RCV000773082] Chr16:23630425 [GRCh38]
Chr16:23641746 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1895A>C (p.Glu632Ala) single nucleotide variant Familial cancer of breast [RCV003607348]|Hereditary cancer-predisposing syndrome [RCV000773115] Chr16:23630259 [GRCh38]
Chr16:23641580 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.*2T>G single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000773130] Chr16:23603457 [GRCh38]
Chr16:23614778 [GRCh37]
Chr16:16p12.2		 likely benign
NM_024675.4(PALB2):c.743T>C (p.Val248Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000773144] Chr16:23635803 [GRCh38]
Chr16:23647124 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2336C>T (p.Ser779Leu) single nucleotide variant Familial cancer of breast [RCV000819396]|Familial cancer of breast [RCV002507340]|Hereditary cancer-predisposing syndrome [RCV000773204] Chr16:23629818 [GRCh38]
Chr16:23641139 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.409G>A (p.Gly137Ser) single nucleotide variant Familial cancer of breast [RCV000803385]|Hereditary cancer-predisposing syndrome [RCV000773246] Chr16:23636137 [GRCh38]
Chr16:23647458 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.3369G>C (p.Val1123=) single nucleotide variant Familial cancer of breast [RCV005427262]|Hereditary cancer-predisposing syndrome [RCV000773317] Chr16:23603651 [GRCh38]
Chr16:23614972 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_024675.4(PALB2):c.2317A>C (p.Thr773Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000774823] Chr16:23629837 [GRCh38]
Chr16:23641158 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2522C>T (p.Thr841Ile) single nucleotide variant Familial cancer of breast [RCV003768340]|Hereditary cancer-predisposing syndrome [RCV000773403] Chr16:23629268 [GRCh38]
Chr16:23640589 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024675.4(PALB2):c.2107_2109dup (p.Leu704dup) duplication Hereditary cancer-predisposing syndrome [RCV000773455] Chr16:23630044..23630045 [GRCh38]
Chr16:23641365..23641366 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.1162C>T (p.Pro388Ser) single nucleotide variant Familial cancer of breast [RCV002534067]|Hereditary cancer-predisposing syndrome [RCV000773467]|not provided [RCV001775990] Chr16:23635384 [GRCh38]
Chr16:23646705 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2136G>A (p.Ala712=) single nucleotide variant Familial cancer of breast [RCV001406005]|Hereditary cancer-predisposing syndrome [RCV000773497]|not provided [RCV001030281] Chr16:23630018 [GRCh38]
Chr16:23641339 [GRCh37]
Chr16:16p12.2		 benign|likely benign|uncertain significance
NM_024675.4(PALB2):c.810C>A (p.Ser270Arg) single nucleotide variant Familial cancer of breast [RCV001856056]|Hereditary cancer-predisposing syndrome [RCV000773541] Chr16:23635736 [GRCh38]
Chr16:23647057 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_024675.4(PALB2):c.2816_2823del (p.Asn938_Leu939insTer) deletion Hereditary cancer-predisposing syndrome [RCV000773791] Chr16:23624020..23624027 [GRCh38]
Chr16:23635341..23635348 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_024675.4(PALB2):c.1941T>C (p.His647=) single nucleotide variant Familial cancer of breast [RCV001080752]|Hereditary cancer-predisposing syndrome [RCV002406684]|not provided [