STK11 (serine/threonine kinase 11)

Gene: STK11 (serine/threonine kinase 11) Homo sapiens

Analyze

Symbol:

STK11

Name:

serine/threonine kinase 11

RGD ID:

1318548

HGNC Page

HGNC:11389

Description:

Enables several functions, including ion binding activity; p53 binding activity; and protein kinase activator activity. Involved in several processes, including anoikis; cellular response to UV-B; and regulation of signal transduction. Acts upstream of with a negative effect on G1 to G0 transition. Located in several cellular components, including mitochondrion; nucleoplasm; and serine/threonine protein kinase complex. Part of intracellular protein-containing complex. Implicated in Peutz-Jeghers syndrome; cervical mucinous adenocarcinoma; familial melanoma; ovarian carcinoma; and pancreatic cancer. Biomarker of breast carcinoma and endometrial cancer.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

hLKB1; liver kinase B1; LKB1; PJS; polarization-related protein LKB1; renal carcinoma antigen NY-REN-19; serine/threonine kinase 11 (peutz-jeghers syndrome); serine/threonine-protein kinase 11; serine/threonine-protein kinase LKB1; serine/threonine-protein kinase STK11

RGD Orthologs

Alliance Genes

More Info

more info ...

More Info

Species	Gene symbol and name	Data Source	Assertion derived from	less info ...
Orthologs ¹				less info ...
Mus musculus (house mouse):	Stk11 (serine/threonine kinase 11)	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Rattus norvegicus (Norway rat):	Stk11 (serine/threonine kinase 11)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, Panther, PhylomeDB, Treefam
Chinchilla lanigera (long-tailed chinchilla):	Stk11 (serine/threonine kinase 11)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	STK11 (serine/threonine kinase 11)	NCBI	Ortholog
Canis lupus familiaris (dog):	STK11 (serine/threonine kinase 11)	HGNC	HomoloGene, NCBI
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Stk11 (serine/threonine kinase 11)	NCBI	Ortholog
Sus scrofa (pig):	STK11 (serine/threonine kinase 11)	HGNC	EggNOG, Ensembl, Inparanoid, NCBI, OMA, OrthoDB, Panther, Treefam
Chlorocebus sabaeus (green monkey):	STK11 (serine/threonine kinase 11)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Stk11 (serine/threonine kinase 11)	NCBI	Ortholog
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Stk11 (serine/threonine kinase 11)	Alliance	DIOPT (HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Mus musculus (house mouse):	Stk11 (serine/threonine kinase 11)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Danio rerio (zebrafish):	stk11 (serine/threonine kinase 11)	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PhylomeDB\|SonicParanoid\|ZFIN)
Caenorhabditis elegans (roundworm):	par-4	Alliance	DIOPT (Ensembl Compara\|InParanoid\|OrthoInspector\|PhylomeDB\|SonicParanoid)
Drosophila melanogaster (fruit fly):	Lkb1	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OrthoFinder\|OrthoInspector\|PhylomeDB\|SonicParanoid)
Xenopus laevis (African clawed frog):	stk11.L	Alliance	DIOPT (Xenbase)
Xenopus tropicalis (tropical clawed frog):	stk11	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PhylomeDB\|SonicParanoid)
Xenopus laevis (African clawed frog):	stk11.S	Alliance	DIOPT (Xenbase)

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	19	1,205,778 - 1,228,431 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	19	1,177,558 - 1,228,431 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	19	1,205,777 - 1,228,430 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	19	1,156,798 - 1,179,434 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	19	1,156,797 - 1,179,434	NCBI
Celera	19	1,140,029 - 1,162,667 (+)	NCBI		Celera
Cytogenetic Map	19	p13.3	NCBI
HuRef	19	981,572 - 1,004,116 (+)	NCBI		HuRef
CHM1_1	19	1,205,350 - 1,228,397 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	19	1,174,325 - 1,196,989 (+)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

adenocarcinoma (EXP)

B-lymphoblastic leukemia/lymphoma (IAGP)

bile duct cancer (IAGP)

brain cancer (IAGP)

Brain Neoplasms (IAGP)

breast cancer (IAGP)

breast carcinoma (IAGP,IEP)

Cardiomegaly (ISO)

cerebral creatine deficiency syndrome (IAGP)

cervical mucinous adenocarcinoma (IAGP)

colon cancer (IAGP)

colon carcinoma (IAGP)

Cronkhite-Canada syndrome (EXP,IAGP)

cyclic hematopoiesis (IAGP)

disease of cellular proliferation (IAGP)

Distal Arthrogryposis, with Impaired Proprioception and Touch (IAGP)

dysplastic nevus syndrome (IAGP)

embryonal rhabdomyosarcoma (IAGP)

endometrial cancer (IEP,ISO,ISS)

endometrial carcinoma (IAGP)

familial adenomatous polyposis (IAGP)

familial adenomatous polyposis 1 (IAGP)

familial adenomatous polyposis 2 (IAGP)

familial melanoma (IAGP)

genetic disease (IAGP)

head and neck squamous cell carcinoma (IAGP)

hepatoblastoma (IAGP)

hereditary breast ovarian cancer syndrome (IAGP)

Hereditary Neoplastic Syndromes (IAGP)

hypertension (EXP)

hyperthyroidism (ISO)

Insulin Resistance (ISO)

juvenile polyposis syndrome (IAGP)

Left Ventricular Hypertrophy (EXP)

lung adenocarcinoma (EXP,IAGP)

Lung Neoplasms (EXP)

lung non-small cell carcinoma (IAGP)

lung squamous cell carcinoma (IAGP)

Lymphatic Metastasis (IEP)

Marfanoid Mental Retardation Syndrome, Autosomal (IAGP)

melanoma (IAGP)

multiple endocrine neoplasia type 1 (IAGP)

obesity (ISO)

ovarian cancer (IAGP)

ovarian carcinoma (IAGP)

pancreatic cancer (EXP,IAGP)

pancreatic carcinoma (IAGP)

pancreatic ductal carcinoma (EXP)

Pancreatic Neoplasms (IAGP)

Peutz-Jeghers syndrome (EXP,IAGP,ISS,TAS)

prostate carcinoma in situ (ISO)

skin melanoma (IAGP)

squamous cell carcinoma (EXP,IAGP)

stomach cancer (IAGP)

testicular cancer (IAGP)

testicular germ cell cancer (IAGP)

Testicular Germ Cell Tumor (EXP,IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

(-)-epigallocatechin 3-gallate (ISO)

(R)-lipoic acid (ISO)

1,3-dichloropropan-2-ol (ISO)

1-naphthyl isothiocyanate (ISO)

17alpha-ethynylestradiol (ISO)

17beta-estradiol (ISO)

2,3,7,8-tetrachlorodibenzodioxine (ISO)

2-deoxy-D-glucose (EXP)

3',5'-cyclic GMP (EXP)

3-aminobenzamide (EXP)

3-bromopyruvic acid (EXP)

3-chloropropane-1,2-diol (EXP)

4,4'-sulfonyldiphenol (ISO)

4-hydroxynon-2-enal (ISO)

5-methyltetrahydrofolic acid (EXP)

aflatoxin B1 (EXP)

AICA ribonucleotide (EXP)

aldehydo-D-glucose (ISO)

arachidonic acid (EXP)

aristolochic acid A (EXP)

arsane (EXP,ISO)

arsenic atom (EXP,ISO)

ATP (EXP)

bafilomycin A1 (EXP)

benzo[a]pyrene (EXP)

beta-ionone (EXP)

bisphenol A (EXP,ISO)

bleomycin A2 (ISO)

bortezomib (EXP)

C60 fullerene (ISO)

cadmium atom (ISO)

chenodeoxycholic acid (ISO)

choline (ISO)

cisplatin (EXP)

corosolic acid (ISO)

D-glucose (ISO)

decabromodiphenyl ether (ISO)

deoxycholic acid (ISO)

deoxypodophyllotoxin (EXP)

dibutyl phthalate (ISO)

dieldrin (EXP)

diosgenin (EXP)

dorsomorphin (EXP)

elemental selenium (EXP)

ethanol (ISO)

fenofibrate (EXP)

flutamide (ISO)

folic acid (ISO)

formononetin (ISO)

FR900359 (EXP)

fulvestrant (EXP)

Gastrodin (EXP)

geldanamycin (EXP)

ginsenoside Re (EXP)

ginsenoside Rg2 (EXP)

glucose (ISO)

hexadecanoic acid (EXP)

histamine (EXP)

ionomycin (EXP)

iron atom (EXP)

iron(0) (EXP)

L-methionine (ISO)

lactacystin (EXP)

lipoic acid (ISO)

lipopolysaccharide (ISO)

lonidamine (EXP)

maslinic acid (ISO)

mechlorethamine (ISO)

metformin (EXP)

N-[2-(4-bromocinnamylamino)ethyl]isoquinoline-5-sulfonamide (EXP)

N-benzyloxycarbonyl-L-leucyl-L-leucyl-L-leucinal (EXP)

oleanolic acid (ISO)

orotic acid (EXP)

ozone (EXP)

paracetamol (ISO)

phorbol 13-acetate 12-myristate (ISO)

Picroside ii (ISO)

pioglitazone (EXP)

pterostilbene (EXP)

quercetin (ISO)

resveratrol (EXP,ISO)

rubimaillin (EXP)

selenium atom (EXP)

sertraline (EXP)

silicon atom (ISO)

simvastatin (ISO)

sodium arsenate (ISO)

tamoxifen (ISO)

thymoquinone (EXP,ISO)

triptonide (ISO)

U-73122 (ISO)

valproic acid (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

anoikis (IMP)

apoptotic process (IEA)

autophagy (IEA)

axonogenesis (IEA,ISO)

cell differentiation (IEA)

cellular response to UV-B (IDA,IEA)

dendrite extension (IEA,ISO)

DNA damage response (IBA,IEA,IMP)

epithelial cell proliferation involved in prostate gland development (IEA,ISO)

establishment of cell polarity (IBA,IEA,IMP,ISS)

G1 to G0 transition (IDA,IPI)

glucose homeostasis (IEA,ISS)

Golgi localization (IEA,ISO)

intrinsic apoptotic signaling pathway by p53 class mediator (IDA)

negative regulation of canonical Wnt signaling pathway (IMP)

negative regulation of cell growth (IEA,ISS)

negative regulation of cell population proliferation (IEA,IMP)

negative regulation of cold-induced thermogenesis (IEA,ISS)

negative regulation of epithelial cell proliferation involved in prostate gland development (IEA,ISO)

negative regulation of TORC1 signaling (IMP)

positive regulation of autophagy (IMP)

positive regulation of axonogenesis (IEA,ISO)

positive regulation of cellular senescence (ISO)

positive regulation of gluconeogenesis (IEA,ISO)

positive regulation of protein localization to nucleus (IEA,ISO)

positive regulation of transforming growth factor beta receptor signaling pathway (IEA,IMP)

positive regulation of vesicle transport along microtubule (IBA,IEA,IMP)

positive thymic T cell selection (IEA,ISO)

protein localization to nucleus (IEA,ISO)

regulation of cell cycle (TAS)

regulation of cell growth (IEA,ISS)

regulation of dendrite morphogenesis (IEA,ISO)

regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction (IEA,ISO)

regulation of signal transduction by p53 class mediator (TAS)

regulation of Wnt signaling pathway (IBA,IEA,ISO)

response to activity (IEA,ISO)

response to glucagon (IEA,ISO)

response to ionizing radiation (IEA,ISS)

response to lipid (IEA,ISO)

response to peptide hormone (IEA,ISO)

response to thyroid hormone (IEA,ISO)

signal transduction (IBA,IEA)

spermatid development (ISO)

spermatogenesis (IEA)

T cell receptor signaling pathway (IEA,ISO)

tissue homeostasis (IEA,ISO)

vasculature development (IEA,ISS)

Cellular Component

cytoplasm (IBA,IDA,IEA,ISS)

cytosol (IDA,IEA,ISS,TAS)

extracellular exosome (HDA)

intracellular protein-containing complex (IDA)

membrane (IEA,ISS)

mitochondrion (IDA,IEA)

nucleoplasm (IDA,TAS)

nucleus (IBA,IDA,IEA)

protein-containing complex (IEA,ISO)

serine/threonine protein kinase complex (IPI,ISS)

Z disc (IEA)

Molecular Function

ATP binding (IDA,IEA)

kinase activity (IEA)

LRR domain binding (IEA)

magnesium ion binding (IDA)

metal ion binding (IEA)

nucleotide binding (IEA)

p53 binding (IDA)

protein binding (IPI)

protein kinase activator activity (IDA,IEA)

protein kinase activity (IEA)

protein serine kinase activity (IEA)

protein serine/threonine kinase activity (IBA,IDA,IEA,ISO,TAS)

protein-containing complex binding (IEA,ISO)

transferase activity (IEA)

Molecular Pathway Annotations Click to see Annotation Detail View

adenosine monophosphate-activated protein kinase (AMPK) signaling pathway (TAS)

mTOR signaling pathway (IEA)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Abdominal pain (IAGP)

Abnormal pigmentation of the oral mucosa (IAGP)

Abnormality of the eye (IAGP)

Abnormality of the gallbladder (IAGP)

Abnormality of the gastrointestinal tract (IAGP)

Abnormality of the nose (IAGP)

Abnormality of the respiratory system (IAGP)

Abnormality of the ureter (IAGP)

Adult onset (IAGP)

Anemia (IAGP)

Atypical nevi in non-sun exposed areas (IAGP)

Atypical nevus (IAGP)

Autosomal dominant inheritance (IAGP)

Azoospermia (IAGP)

Bile duct polyp (IAGP)

Biliary tract abnormality (IAGP)

Biliary tract neoplasm (IAGP)

Bladder polyp (IAGP)

Bloody diarrhea (IAGP)

Breast carcinoma (IAGP)

Cervix cancer (IAGP)

Childhood onset (IAGP)

Cholangiocarcinoma (IAGP)

Choriocarcinoma (IAGP)

Clubbing (IAGP)

Clubbing of fingers (IAGP)

Colon cancer (IAGP)

Cutaneous melanoma (IAGP)

Elevated circulating alpha-fetoprotein concentration (IAGP)

Embryonal neoplasm (IAGP)

Embryonal rhabdomyosarcoma (IAGP)

Endometrial carcinoma (IAGP)

Enlarged polycystic ovaries (IAGP)

Esophageal neoplasm (IAGP)

Gastrointestinal carcinoma (IAGP)

Gastrointestinal hemorrhage (IAGP)

Gastrointestinal infarctions (IAGP)

Gynecomastia (IAGP)

Hamartomatous polyposis (IAGP)

Hepatoblastoma (IAGP)

Hypermelanotic macule (IAGP)

Increased level of L-fucose in urine (IAGP)

Intestinal bleeding (IAGP)

Intestinal obstruction (IAGP)

Intestinal polyposis (IAGP)

Intussusception (IAGP)

Iron deficiency anemia (IAGP)

Labial melanotic macule (IAGP)

Lung adenocarcinoma (IAGP)

Macule (IAGP)

Melanoma (IAGP)

Melanonychia (IAGP)

Multiple gastric polyps (IAGP)

Multiple lentigines (IAGP)

Multiple renal cysts (IAGP)

Nasal polyposis (IAGP)

Neoplasm (IAGP)

Neoplasm of the colon (IAGP)

Neoplasm of the lung (IAGP)

Neoplasm of the nose (IAGP)

Neoplasm of the pancreas (IAGP)

Neoplasm of the rectum (IAGP)

Neoplasm of the small intestine (IAGP)

Non-small cell lung carcinoma (IAGP)

Numerous nevi (IAGP)

Oral melanotic macule (IAGP)

Ovarian cyst (IAGP)

Ovarian neoplasm (IAGP)

Pancreatic adenocarcinoma (IAGP)

Precocious puberty with Sertoli cell tumor (IAGP)

Rectal prolapse (IAGP)

Renal cell carcinoma (IAGP)

Sporadic (IAGP)

Squamous cell carcinoma (IAGP)

Squamous cell lung carcinoma (IAGP)

Stomach cancer (IAGP)

Teratoma (IAGP)

Testicular neoplasm (IAGP)

Typified by somatic mosaicism (IAGP)

Uterine neoplasm (IAGP)

Uveal melanoma (IAGP)

Vomiting (IAGP)

References

References - curated

#	Reference Title	Reference Citation
1.	Thyroid hormone effects on LKB1, MO25, phospho-AMPK, phospho-CREB, and PGC-1alpha in rat muscle.	Branvold DJ, etal., J Appl Physiol (1985). 2008 Oct;105(4):1218-27. doi: 10.1152/japplphysiol.00997.2007. Epub 2008 Jul 31.
2.	Loss of Lkb1 provokes highly invasive endometrial adenocarcinomas.	Contreras CM, etal., Cancer Res. 2008 Feb 1;68(3):759-66.
3.	LKB1 protein expression in human breast cancer.	Fenton H, etal., Appl Immunohistochem Mol Morphol. 2006 Jun;14(2):146-53.
4.	GOAs Human GO annotations	GOA_HUMAN data from the GO Consortium
5.	The AMP-activated protein kinase pathway--new players upstream and downstream.	Hardie DG J Cell Sci. 2004 Nov 1;117(Pt 23):5479-87.
6.	Complexes between the LKB1 tumor suppressor, STRAD alpha/beta and MO25 alpha/beta are upstream kinases in the AMP-activated protein kinase cascade.	Hawley SA, etal., J Biol. 2003;2(4):28. Epub 2003 Sep 24.
7.	Mutations in the STK11 gene characterize minimal deviation adenocarcinoma of the uterine cervix.	Kuragaki C, etal., Lab Invest. 2003 Jan;83(1):35-45.
8.	Mutational analysis of STK11 gene in ovarian carcinomas.	Nishioka Y, etal., Jpn J Cancer Res. 1999 Jun;90(6):629-32.
9.	Expression of an active LKB1 complex in cardiac myocytes results in decreased protein synthesis associated with phenylephrine-induced hypertrophy.	Noga AA, etal., Am J Physiol Heart Circ Physiol. 2007 Mar;292(3):H1460-9. Epub 2006 Nov 10.
10.	OMIM Disease Annotation Pipeline	OMIM Disease Annotation Pipeline
11.	Lkb1 deficiency causes prostate neoplasia in the mouse.	Pearson HB, etal., Cancer Res. 2008 Apr 1;68(7):2223-32.
12.	KEGG Annotation Import Pipeline	Pipeline to import KEGG annotations from KEGG into RGD
13.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
14.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions
15.	RGD HPO Phenotype Annotation Pipeline	RGD automated import pipeline for human HPO-to-gene-to-disease annotations
16.	The tumor suppressor gene LKB1 is associated with prognosis in human breast carcinoma.	Shen Z, etal., Clin Cancer Res. 2002 Jul;8(7):2085-90.
17.	LKB1-AMPK signaling in muscle from obese insulin-resistant Zucker rats and effects of training.	Sriwijitkamol A, etal., Am J Physiol Endocrinol Metab. 2006 May;290(5):E925-32. Epub 2005 Dec 13.

Additional References at PubMed

PMID:2563227	PMID:8889548	PMID:8988175	PMID:9425897	PMID:9428765	PMID:9537235	PMID:9760200	PMID:9837816	PMID:10208439	PMID:10362809	PMID:10408777	PMID:10508479
PMID:10642499	PMID:10642527	PMID:11297520	PMID:11430832	PMID:11445556	PMID:11668633	PMID:11733352	PMID:11741830	PMID:11853558	PMID:12097271	PMID:12218179	PMID:12234250
PMID:12477932	PMID:12489981	PMID:12552571	PMID:12595760	PMID:12753905	PMID:12805220	PMID:12847291	PMID:12879020	PMID:12912948	PMID:14511408	PMID:14517247	PMID:14517248
PMID:14668798	PMID:14676191	PMID:14702039	PMID:14976552	PMID:14985505	PMID:15077168	PMID:15121768	PMID:15183188	PMID:15188174	PMID:15231735	PMID:15287029	PMID:15292028
PMID:15331174	PMID:15485651	PMID:15489334	PMID:15561763	PMID:15607222	PMID:15608654	PMID:15617552	PMID:15713674	PMID:15731909	PMID:15733851	PMID:15774015	PMID:15800014
PMID:15987703	PMID:16054041	PMID:16169070	PMID:16287113	PMID:16311241	PMID:16396636	PMID:16407220	PMID:16407837	PMID:16540748	PMID:16580634	PMID:16582077	PMID:16648371
PMID:16822578	PMID:16882735	PMID:16912160	PMID:16927138	PMID:16953221	PMID:17010524	PMID:17026623	PMID:17108107	PMID:17114342	PMID:17212587	PMID:17216128	PMID:17234589
PMID:17244606	PMID:17319781	PMID:17344591	PMID:17384680	PMID:17573348	PMID:17575127	PMID:17599048	PMID:17637250	PMID:17641416	PMID:17676035	PMID:17711506	PMID:17766436
PMID:17884763	PMID:17921699	PMID:17928927	PMID:17950019	PMID:18000088	PMID:18029348	PMID:18199157	PMID:18245474	PMID:18256292	PMID:18303014	PMID:18311138	PMID:18403917
PMID:18483235	PMID:18495044	PMID:18594528	PMID:18600394	PMID:18676680	PMID:18681789	PMID:18687677	PMID:18794113	PMID:18854309	PMID:18854318	PMID:19029933	PMID:19056867
PMID:19068194	PMID:19145097	PMID:19165201	PMID:19170196	PMID:19177591	PMID:19204826	PMID:19229701	PMID:19250387	PMID:19274086	PMID:19287990	PMID:19340305	PMID:19351817
PMID:19369417	PMID:19386264	PMID:19407487	PMID:19414597	PMID:19463221	PMID:19507030	PMID:19513107	PMID:19520843	PMID:19584313	PMID:19615099	PMID:19615732	PMID:19622832
PMID:19625176	PMID:19692168	PMID:19724060	PMID:19727776	PMID:19892943	PMID:19908348	PMID:20010869	PMID:20018878	PMID:20020146	PMID:20057966	PMID:20082862	PMID:20193846
PMID:20207041	PMID:20227367	PMID:20301443	PMID:20354225	PMID:20357370	PMID:20368287	PMID:20368693	PMID:20400510	PMID:20418665	PMID:20423848	PMID:20424326	PMID:20428811
PMID:20435009	PMID:20452353	PMID:20489196	PMID:20497868	PMID:20559149	PMID:20562859	PMID:20623358	PMID:20668229	PMID:20682687	PMID:20686846	PMID:20722467	PMID:20818976
PMID:20864035	PMID:20881644	PMID:20939895	PMID:20956321	PMID:20974850	PMID:21048031	PMID:21102257	PMID:21118512	PMID:21150337	PMID:21191146	PMID:21191700	PMID:21192934
PMID:21241696	PMID:21396365	PMID:21450399	PMID:21516116	PMID:21532627	PMID:21572398	PMID:21706049	PMID:21816872	PMID:21832049	PMID:21860411	PMID:21873635	PMID:21876548
PMID:21994947	PMID:22005930	PMID:22118009	PMID:22168747	PMID:22226967	PMID:22265968	PMID:22270359	PMID:22384927	PMID:22412893	PMID:22457270	PMID:22460425	PMID:22487816
PMID:22543132	PMID:22575644	PMID:22635025	PMID:22775437	PMID:22814264	PMID:22848740	PMID:22928647	PMID:22939624	PMID:22942091	PMID:22983157	PMID:22986809	PMID:22988252
PMID:23027127	PMID:23044421	PMID:23074285	PMID:23086944	PMID:23207623	PMID:23322200	PMID:23367447	PMID:23393134	PMID:23399955	PMID:23415580	PMID:23430953	PMID:23451056
PMID:23526220	PMID:23572524	PMID:23584481	PMID:23592276	PMID:23612973	PMID:23637231	PMID:23645358	PMID:23648482	PMID:23664447	PMID:23679304	PMID:23706335	PMID:23788249
PMID:23810581	PMID:23861764	PMID:23878245	PMID:23883619	PMID:23892522	PMID:23995788	PMID:24022664	PMID:24037887	PMID:24074562	PMID:24086281	PMID:24146957	PMID:24154639
PMID:24170201	PMID:24285539	PMID:24324551	PMID:24362629	PMID:24387336	PMID:24412244	PMID:24419424	PMID:24468202	PMID:24469340	PMID:24550282	PMID:24552808	PMID:24604241
PMID:24615515	PMID:24643070	PMID:24645967	PMID:24647869	PMID:24652667	PMID:24676538	PMID:24722282	PMID:24770722	PMID:24792998	PMID:24793789	PMID:24828662	PMID:24913037
PMID:24928005	PMID:24998845	PMID:25011082	PMID:25036637	PMID:25042259	PMID:25042806	PMID:25114112	PMID:25122068	PMID:25155037	PMID:25175672	PMID:25178656	PMID:25179843
PMID:25180605	PMID:25224251	PMID:25241761	PMID:25244018	PMID:25263448	PMID:25329316	PMID:25349262	PMID:25362209	PMID:25465874	PMID:25510663	PMID:25640309	PMID:25650664
PMID:25674212	PMID:25694554	PMID:25695224	PMID:25728766	PMID:25737507	PMID:25751324	PMID:25769882	PMID:25798842	PMID:25841653	PMID:25850957	PMID:25852190	PMID:25874445
PMID:25874865	PMID:25894929	PMID:26027660	PMID:26056085	PMID:26068970	PMID:26147831	PMID:26186194	PMID:26212320	PMID:26345094	PMID:26359358	PMID:26386697	PMID:26398719
PMID:26413869	PMID:26470595	PMID:26477306	PMID:26479318	PMID:26517522	PMID:26549522	PMID:26607058	PMID:26616116	PMID:26625312	PMID:26662608	PMID:26701726	PMID:26701889
PMID:26718214	PMID:26833127	PMID:26864623	PMID:26871637	PMID:26877155	PMID:26917230	PMID:26936013	PMID:26976973	PMID:27004004	PMID:27035914	PMID:27060312	PMID:27150059
PMID:27241107	PMID:27251228	PMID:27259994	PMID:27349837	PMID:27431571	PMID:27453043	PMID:27461402	PMID:27467201	PMID:27546620	PMID:27609421	PMID:27705915	PMID:27721366
PMID:27748285	PMID:27799657	PMID:27821076	PMID:27910069	PMID:28031112	PMID:28034771	PMID:28119362	PMID:28185117	PMID:28205554	PMID:28231849	PMID:28289710	PMID:28349069
PMID:28368277	PMID:28397012	PMID:28514442	PMID:28538732	PMID:28561066	PMID:28581518	PMID:28628118	PMID:28649994	PMID:28652249	PMID:28656285	PMID:28696138	PMID:28700115
PMID:28720067	PMID:28813465	PMID:28827412	PMID:28882949	PMID:28931725	PMID:28967900	PMID:28986664	PMID:29032027	PMID:29084199	PMID:29138862	PMID:29141581	PMID:29191602
PMID:29301733	PMID:29370903	PMID:29419869	PMID:29447078	PMID:29475611	PMID:29513571	PMID:29525853	PMID:29526696	PMID:29540834	PMID:29566768	PMID:29566977	PMID:29573522
PMID:29601127	PMID:29764856	PMID:29773717	PMID:30015925	PMID:30033530	PMID:30068711	PMID:30078213	PMID:30092773	PMID:30093459	PMID:30171989	PMID:30185829	PMID:30206971
PMID:30226588	PMID:30297358	PMID:30334930	PMID:30423141	PMID:30443855	PMID:30483811	PMID:30514331	PMID:30528796	PMID:30553476	PMID:30594553	PMID:30689838	PMID:30710502
PMID:30784288	PMID:30830877	PMID:30885352	PMID:30913862	PMID:30997723	PMID:31071273	PMID:31089135	PMID:31217475	PMID:31232177	PMID:31350327	PMID:31355336	PMID:31389598
PMID:31429977	PMID:31515776	PMID:31554794	PMID:31664223	PMID:31672271	PMID:31697874	PMID:31709742	PMID:31744879	PMID:31757465	PMID:31781355	PMID:31900314	PMID:31930988
PMID:31983282	PMID:31995728	PMID:32219437	PMID:32236518	PMID:32253637	PMID:32273511	PMID:32284250	PMID:32312757	PMID:32345599	PMID:32413741	PMID:32478334	PMID:32504210
PMID:32513696	PMID:32634329	PMID:32636318	PMID:32647375	PMID:32653521	PMID:32707033	PMID:32709715	PMID:32749111	PMID:32788639	PMID:32819560	PMID:32827803	PMID:32883948
PMID:32911741	PMID:32945133	PMID:33147782	PMID:33226137	PMID:33257855	PMID:33264619	PMID:33278637	PMID:33299528	PMID:33323404	PMID:33335306	PMID:33338855	PMID:33439550
PMID:33534223	PMID:33744718	PMID:33961781	PMID:34012039	PMID:34016959	PMID:34045189	PMID:34080793	PMID:34193159	PMID:34204950	PMID:34350982	PMID:34371271	PMID:34461288
PMID:34479873	PMID:34500370	PMID:34516304	PMID:34591612	PMID:34740862	PMID:34754157	PMID:34757069	PMID:34821530	PMID:34828353	PMID:34849607	PMID:34921639	PMID:35011738
PMID:35017636	PMID:35018944	PMID:35131083	PMID:35194062	PMID:35271311	PMID:35463992	PMID:35504291	PMID:35513074	PMID:35543335	PMID:35543972	PMID:35559673	PMID:35601121
PMID:35753125	PMID:35759814	PMID:35768580	PMID:35856436	PMID:35858546	PMID:36077459	PMID:36261001	PMID:36550395	PMID:36603171	PMID:36627571	PMID:36661676	PMID:36715544
PMID:36736316	PMID:36791282	PMID:36870679	PMID:37018939	PMID:37023992	PMID:37080995	PMID:37092555	PMID:37174663	PMID:37261532	PMID:37264076	PMID:37369462	PMID:37377590
PMID:37816458	PMID:37821951	PMID:37873736	PMID:37879773	PMID:37966164	PMID:37968341	PMID:38330261	PMID:38480816

Genomics

Comparative Map Data

STK11
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	19	1,205,778 - 1,228,431 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	19	1,177,558 - 1,228,431 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	19	1,205,777 - 1,228,430 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	19	1,156,798 - 1,179,434 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	19	1,156,797 - 1,179,434	NCBI
Celera	19	1,140,029 - 1,162,667 (+)	NCBI		Celera
Cytogenetic Map	19	p13.3	NCBI
HuRef	19	981,572 - 1,004,116 (+)	NCBI		HuRef
CHM1_1	19	1,205,350 - 1,228,397 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	19	1,174,325 - 1,196,989 (+)	NCBI		T2T-CHM13v2.0

Stk11
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	10	79,951,602 - 79,966,513 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	10	79,951,637 - 79,966,516 (+)	Ensembl		GRCm39 Ensembl
GRCm38	10	80,115,767 - 80,130,679 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	10	80,115,803 - 80,130,682 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	10	79,579,281 - 79,593,215 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	10	79,519,331 - 79,533,808 (+)	NCBI		MGSCv36	mm8
Celera	10	81,131,368 - 81,145,302 (+)	NCBI		Celera
Cytogenetic Map	10	C1	NCBI
cM Map	10	39.72	NCBI

Stk11
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	7	10,225,204 - 10,241,965 (-)	NCBI		GRCr8
mRatBN7.2	7	9,574,553 - 9,591,315 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	7	9,575,269 - 9,591,315 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	7	12,457,505 - 12,474,280 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	7	14,332,844 - 14,349,619 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	7	12,193,941 - 12,210,702 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	7	12,440,751 - 12,457,513 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	7	12,440,751 - 12,457,513 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	7	12,610,856 - 12,627,616 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	7	11,086,760 - 11,103,522 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	7	11,089,427 - 11,103,113 (-)	NCBI
Celera	7	7,750,545 - 7,767,310 (-)	NCBI		Celera
Cytogenetic Map	7	q11	NCBI

Stk11
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0 Ensembl	NW_004955495	6,678,195 - 6,699,058 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955495	6,678,195 - 6,699,408 (-)	NCBI	ChiLan1.0	ChiLan1.0

STK11
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
NHGRI_mPanPan1-v2	20	5,548,808 - 5,570,145 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	19	4,784,506 - 4,806,946 (+)	NCBI		NHGRI_mPanPan1
PanPan1.1	19	1,188,537 - 1,210,677 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	19	1,188,537 - 1,210,677 (+)	Ensembl	panpan1.1		panPan2

STK11
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	20	57,558,966 - 57,579,163 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	20	57,559,424 - 57,579,118 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	20	57,361,634 - 57,381,897 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	20	58,301,527 - 58,321,790 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	20	58,301,538 - 58,321,845 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	20	57,357,343 - 57,377,554 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	20	57,836,582 - 57,856,814 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	20	58,039,595 - 58,059,787 (-)	NCBI		UU_Cfam_GSD_1.0

Stk11
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024405118	217,234,125 - 217,254,944 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936588	579,816 - 603,654 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936588	579,816 - 601,033 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

STK11
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	2	77,230,372 - 77,249,327 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	2	77,229,888 - 77,249,322 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	2	77,814,541 - 77,823,643 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

STK11
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	6	973,033 - 996,857 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	6	974,144 - 995,136 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666081	7,866,551 - 7,890,682 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Stk11
(Heterocephalus glaber - naked mole-rat)

Naked Mole-Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Naked Mole-Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla_female_1.0 Ensembl	NW_004624828	7,445,069 - 7,467,298 (-)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624828	7,444,339 - 7,466,926 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in STK11
2166 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
NM_000455.5(STK11):c.735-5T>C	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000561092]	Chr19:1221208 [GRCh38] Chr19:1221207 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.613G>C (p.Ala205Pro)	single nucleotide variant	Peutz-Jeghers syndrome [RCV000546701]	Chr19:1220596 [GRCh38] Chr19:1220595 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.375-5C>G	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000561321]\|Peutz-Jeghers syndrome [RCV002060413]	Chr19:1219319 [GRCh38] Chr19:1219318 [GRCh37] Chr19:19p13.3	likely benign\|uncertain significance
NM_000455.5(STK11):c.657C>T (p.Phe219=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000582765]\|Peutz-Jeghers syndrome [RCV000551464]\|not provided [RCV003478133]	Chr19:1220640 [GRCh38] Chr19:1220639 [GRCh37] Chr19:19p13.3	likely benign\|uncertain significance
NM_000455.5(STK11):c.350T>C (p.Leu117Ser)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003159758]\|Peutz-Jeghers syndrome [RCV000553716]	Chr19:1218476 [GRCh38] Chr19:1218475 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.838C>G (p.Pro280Ala)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000777281]\|Peutz-Jeghers syndrome [RCV000555728]	Chr19:1221316 [GRCh38] Chr19:1221315 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.381G>T (p.Met127Ile)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000567764]	Chr19:1219330 [GRCh38] Chr19:1219329 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1292_*15dup (p.Ala429_Ter434=)	duplication	Hereditary cancer-predisposing syndrome [RCV000562182]	Chr19:1226629..1226630 [GRCh38] Chr19:1226628..1226629 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.747C>T (p.Thr249=)	single nucleotide variant	Carcinoma of pancreas [RCV002476113]\|Hereditary cancer-predisposing syndrome [RCV000573783]\|Peutz-Jeghers syndrome [RCV000539250]\|not provided [RCV001662535]\|not specified [RCV003493627]	Chr19:1221225 [GRCh38] Chr19:1221224 [GRCh37] Chr19:19p13.3	benign\|likely benign
NM_000455.5(STK11):c.1262_1263delinsAT (p.Ser421Asn)	indel	Hereditary cancer-predisposing syndrome [RCV000562727]\|Peutz-Jeghers syndrome [RCV000560077]\|not provided [RCV002476112]	Chr19:1226607..1226608 [GRCh38] Chr19:1226606..1226607 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.58G>T (p.Val20Leu)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003278882]\|Peutz-Jeghers syndrome [RCV000542775]	Chr19:1206971 [GRCh38] Chr19:1206970 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.906G>A (p.Gln302=)	single nucleotide variant	Peutz-Jeghers syndrome [RCV000548378]	Chr19:1221992 [GRCh38] Chr19:1221991 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.756G>C (p.Leu252=)	single nucleotide variant	Peutz-Jeghers syndrome [RCV000549348]	Chr19:1221234 [GRCh38] Chr19:1221233 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.605A>G (p.His202Arg)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000561583]\|Melanoma, cutaneous malignant, susceptibility to, 1 [RCV003470844]\|Peutz-Jeghers syndrome [RCV001247438]	Chr19:1220588 [GRCh38] Chr19:1220587 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1244G>A (p.Arg415His)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000568457]\|Melanoma, cutaneous malignant, susceptibility to, 1 [RCV003459197]\|Peutz-Jeghers syndrome [RCV000551966]\|not provided [RCV002305502]	Chr19:1226589 [GRCh38] Chr19:1226588 [GRCh37] Chr19:19p13.3	conflicting interpretations of pathogenicity\|uncertain significance
NM_000455.5(STK11):c.437A>G (p.Lys146Arg)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001022388]\|Peutz-Jeghers syndrome [RCV000560069]	Chr19:1219386 [GRCh38] Chr19:1219385 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1227G>A (p.Arg409=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000563076]	Chr19:1226572 [GRCh38] Chr19:1226571 [GRCh37] Chr19:19p13.3	likely benign
STK11, EX4-5DEL/EX6-7INV	complex	Peutz-Jeghers syndrome [RCV000007864]	Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.759C>A (p.Tyr253Ter)	single nucleotide variant	Peutz-Jeghers syndrome [RCV000007865]	Chr19:1221237 [GRCh38] Chr19:1221236 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.843del (p.Leu282fs)	deletion	Peutz-Jeghers syndrome [RCV000007866]	Chr19:1221321 [GRCh38] Chr19:1221320 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.718_721del (p.Ser240fs)	deletion	Peutz-Jeghers syndrome [RCV000007867]	Chr19:1220699..1220702 [GRCh38] Chr19:1220698..1220701 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.465-1G>A	single nucleotide variant	Peutz-Jeghers syndrome [RCV000007868]	Chr19:1220372 [GRCh38] Chr19:1220371 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.250A>T (p.Lys84Ter)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000132431]\|Peutz-Jeghers syndrome [RCV000007869]\|not provided [RCV000760079]	Chr19:1207163 [GRCh38] Chr19:1207162 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.834_835del (p.Cys278fs)	microsatellite	Peutz-Jeghers syndrome [RCV000007870]	Chr19:1221310..1221311 [GRCh38] Chr19:1221309..1221310 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.200T>C (p.Leu67Pro)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000492681]\|Peutz-Jeghers syndrome [RCV000007871]\|not provided [RCV000440305]	Chr19:1207113 [GRCh38] Chr19:1207112 [GRCh37] Chr19:19p13.3	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity
NM_000455.5(STK11):c.908_916del (p.Ile303_His306delinsAsn)	deletion	Peutz-Jeghers syndrome [RCV000007872]	Chr19:1221994..1222002 [GRCh38] Chr19:1221993..1222001 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.169G>T (p.Glu57Ter)	single nucleotide variant	Peutz-Jeghers syndrome [RCV000007873]	Chr19:1207082 [GRCh38] Chr19:1207081 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.488G>A (p.Gly163Asp)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000492740]\|Malignant tumor of testis [RCV000007874]	Chr19:1220396 [GRCh38] Chr19:1220395 [GRCh37] Chr19:19p13.3	pathogenic\|other
NM_000455.5(STK11):c.418del (p.Leu140fs)	deletion	Hereditary cancer-predisposing syndrome [RCV000492134]\|Peutz-Jeghers syndrome [RCV000007875]	Chr19:1219367 [GRCh38] Chr19:1219366 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.580G>T (p.Asp194Tyr)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002354151]\|Melanoma [RCV000440206]\|Melanoma, cutaneous malignant, susceptibility to, 1 [RCV000007876]	Chr19:1220488 [GRCh38] Chr19:1220487 [GRCh37] Chr19:19p13.3	pathogenic\|likely pathogenic\|other
NM_000455.5(STK11):c.197dup (p.Leu67fs)	duplication	Peutz-Jeghers syndrome [RCV000007877]	Chr19:1207109..1207110 [GRCh38] Chr19:1207108..1207109 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.108C>A (p.Tyr36Ter)	single nucleotide variant	Carcinoma of pancreas [RCV000007878]	Chr19:1207021 [GRCh38] Chr19:1207020 [GRCh37] Chr19:19p13.3	pathogenic\|other
NM_000455.5(STK11):c.650del (p.Pro217fs)	deletion	Carcinoma of pancreas [RCV000007879]\|Peutz-Jeghers syndrome [RCV001042420]	Chr19:1220630 [GRCh38] Chr19:1220629 [GRCh37] Chr19:19p13.3	pathogenic\|other
NM_000455.5(STK11):c.936del (p.Lys312fs)	deletion	Carcinoma of pancreas [RCV000007880]	Chr19:1222998 [GRCh38] Chr19:1222997 [GRCh37] Chr19:19p13.3	pathogenic\|other
NM_000455.5(STK11):c.508C>T (p.Gln170Ter)	single nucleotide variant	Melanoma, cutaneous malignant, susceptibility to, 1 [RCV000007881]\|Neoplasm [RCV000434489]\|Peutz-Jeghers syndrome [RCV002512881]	Chr19:1220416 [GRCh38] Chr19:1220415 [GRCh37] Chr19:19p13.3	pathogenic\|likely pathogenic\|other
NM_000455.5(STK11):c.145T>G (p.Tyr49Asp)	single nucleotide variant	Melanoma, cutaneous malignant, susceptibility to, 1 [RCV000007882]	Chr19:1207058 [GRCh38] Chr19:1207057 [GRCh37] Chr19:19p13.3	pathogenic\|other
NM_000455.5(STK11):c.403G>C (p.Gly135Arg)	single nucleotide variant	Melanoma, cutaneous malignant, susceptibility to, 1 [RCV000007883]	Chr19:1219352 [GRCh38] Chr19:1219351 [GRCh37] Chr19:19p13.3	pathogenic\|other
NM_000455.5(STK11):c.717G>C (p.Trp239Cys)	single nucleotide variant	Peutz-Jeghers syndrome [RCV000007884]	Chr19:1220700 [GRCh38] Chr19:1220699 [GRCh37] Chr19:19p13.3	pathogenic\|conflicting interpretations of pathogenicity
NM_000455.5(STK11):c.891del (p.Arg297fs)	deletion	Peutz-Jeghers syndrome [RCV000007885]	Chr19:1221976 [GRCh38] Chr19:1221975 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.738C>G (p.Tyr246Ter)	single nucleotide variant	Peutz-Jeghers syndrome [RCV000007886]	Chr19:1221216 [GRCh38] Chr19:1221215 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.1062C>G (p.Phe354Leu)	single nucleotide variant	Breast and/or ovarian cancer [RCV001797996]\|Carcinoma of pancreas [RCV002504766]\|Hereditary cancer-predisposing syndrome [RCV000115593]\|Malignant tumor of breast [RCV001355263]\|Peutz-Jeghers syndrome [RCV000007887]\|not provided [RCV000656543]\|not specified [RCV000122091]	Chr19:1223126 [GRCh38] Chr19:1223125 [GRCh37] Chr19:19p13.3	pathogenic\|benign\|likely benign\|conflicting interpretations of pathogenicity\|conflicting data from submitters\|not provided
NM_000455.5(STK11):c.1153G>A (p.Gly385Ser)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002350195]\|Peutz-Jeghers syndrome [RCV000544191]\|not specified [RCV003321646]	Chr19:1226498 [GRCh38] Chr19:1226497 [GRCh37] Chr19:19p13.3	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_000455.5(STK11):c.816del (p.Ser271_Tyr272insTer)	deletion	Peutz-Jeghers syndrome [RCV000552113]	Chr19:1221294 [GRCh38] Chr19:1221293 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.531C>T (p.Ile177=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003159759]\|Peutz-Jeghers syndrome [RCV000556270]	Chr19:1220439 [GRCh38] Chr19:1220438 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.249G>A (p.Lys83=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000562316]\|Peutz-Jeghers syndrome [RCV000632874]	Chr19:1207162 [GRCh38] Chr19:1207161 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.939T>G (p.His313Gln)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000563498]\|Peutz-Jeghers syndrome [RCV002528948]\|not provided [RCV002264960]	Chr19:1223003 [GRCh38] Chr19:1223002 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.440G>T (p.Arg147Leu)	single nucleotide variant	not specified [RCV003320293]	Chr19:1219389 [GRCh38] Chr19:1219388 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.625A>G (p.Thr209Ala)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000562634]\|Peutz-Jeghers syndrome [RCV003617829]\|not provided [RCV003478224]	Chr19:1220608 [GRCh38] Chr19:1220607 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.978A>C (p.Pro326=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000564037]	Chr19:1223042 [GRCh38] Chr19:1223041 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.359A>G (p.Glu120Gly)	single nucleotide variant	not provided [RCV000723007]	Chr19:1218485 [GRCh38] Chr19:1218484 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1263C>T (p.Ser421=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000568011]\|Peutz-Jeghers syndrome [RCV000529471]\|not provided [RCV003105945]	Chr19:1226608 [GRCh38] Chr19:1226607 [GRCh37] Chr19:19p13.3	likely benign\|uncertain significance
NM_000455.5(STK11):c.863-9T>C	single nucleotide variant	Peutz-Jeghers syndrome [RCV000544748]	Chr19:1221940 [GRCh38] Chr19:1221939 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.440_441del (p.Arg147fs)	deletion	Peutz-Jeghers syndrome [RCV000656431]	Chr19:1219389..1219390 [GRCh38] Chr19:1219388..1219389 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.206C>G (p.Ser69Trp)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000561253]\|Peutz-Jeghers syndrome [RCV001313775]	Chr19:1207119 [GRCh38] Chr19:1207118 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.954A>C (p.Ala318=)	single nucleotide variant	Peutz-Jeghers syndrome [RCV000549798]	Chr19:1223018 [GRCh38] Chr19:1223017 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.672T>A (p.Ile224=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000567034]\|Peutz-Jeghers syndrome [RCV001087247]\|not provided [RCV000842429]	Chr19:1220655 [GRCh38] Chr19:1220654 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.1109-4C>T	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000572712]\|Peutz-Jeghers syndrome [RCV001088020]\|not provided [RCV000589586]	Chr19:1226450 [GRCh38] Chr19:1226449 [GRCh37] Chr19:19p13.3	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_000455.5(STK11):c.1109-9C>G	single nucleotide variant	Peutz-Jeghers syndrome [RCV000552511]	Chr19:1226445 [GRCh38] Chr19:1226444 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.1244G>C (p.Arg415Pro)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000566089]\|Peutz-Jeghers syndrome [RCV001225002]	Chr19:1226589 [GRCh38] Chr19:1226588 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.24G>C (p.Gln8His)	single nucleotide variant	Peutz-Jeghers syndrome [RCV000554676]	Chr19:1206937 [GRCh38] Chr19:1206936 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1278G>A (p.Arg426=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000565110]\|Peutz-Jeghers syndrome [RCV000921012]\|not specified [RCV001194242]	Chr19:1226623 [GRCh38] Chr19:1226622 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.*4del	deletion	Hereditary cancer-predisposing syndrome [RCV000562238]\|Peutz-Jeghers syndrome [RCV001809675]	Chr19:1226651 [GRCh38] Chr19:1226650 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1179C>A (p.Asn393Lys)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001010155]\|Peutz-Jeghers syndrome [RCV000558280]	Chr19:1226524 [GRCh38] Chr19:1226523 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.631C>G (p.Arg211Gly)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000566538]\|Peutz-Jeghers syndrome [RCV000816859]	Chr19:1220614 [GRCh38] Chr19:1220613 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.333C>T (p.Ile111=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000562502]\|Peutz-Jeghers syndrome [RCV001488625]	Chr19:1218459 [GRCh38] Chr19:1218458 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.427G>A (p.Val143Met)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000579569]\|Peutz-Jeghers syndrome [RCV000545253]\|not provided [RCV001836837]\|not specified [RCV001269189]	Chr19:1219376 [GRCh38] Chr19:1219375 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.375-4C>G	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001021057]\|Peutz-Jeghers syndrome [RCV000547296]	Chr19:1219320 [GRCh38] Chr19:1219319 [GRCh37] Chr19:19p13.3	likely benign\|uncertain significance
NM_000455.5(STK11):c.870T>C (p.Leu290=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000565714]	Chr19:1221956 [GRCh38] Chr19:1221955 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.128C>T (p.Ala43Val)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000565536]\|Melanoma, cutaneous malignant, susceptibility to, 1 [RCV003465276]\|Peutz-Jeghers syndrome [RCV000820260]	Chr19:1207041 [GRCh38] Chr19:1207040 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.160C>T (p.Leu54=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000561825]\|Peutz-Jeghers syndrome [RCV000944484]	Chr19:1207073 [GRCh38] Chr19:1207072 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.1236C>T (p.Asn412=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002367786]\|Peutz-Jeghers syndrome [RCV000553180]\|not provided [RCV001731751]	Chr19:1226581 [GRCh38] Chr19:1226580 [GRCh37] Chr19:19p13.3	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_000455.5(STK11):c.971C>G (p.Pro324Arg)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000561932]\|Peutz-Jeghers syndrome [RCV001809660]\|not provided [RCV001770519]	Chr19:1223035 [GRCh38] Chr19:1223034 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1139A>G (p.Asn380Ser)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000774976]\|Peutz-Jeghers syndrome [RCV000556098]	Chr19:1226484 [GRCh38] Chr19:1226483 [GRCh37] Chr19:19p13.3	conflicting interpretations of pathogenicity\|uncertain significance
NM_000455.5(STK11):c.762C>G (p.Pro254=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000568102]\|Peutz-Jeghers syndrome [RCV003617831]	Chr19:1221240 [GRCh38] Chr19:1221239 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.754C>T (p.Leu252=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000566745]\|Peutz-Jeghers syndrome [RCV001415868]	Chr19:1221232 [GRCh38] Chr19:1221231 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.1003A>G (p.Met335Val)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000566843]	Chr19:1223067 [GRCh38] Chr19:1223066 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1165G>T (p.Ala389Ser)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000580195]\|Peutz-Jeghers syndrome [RCV002529115]	Chr19:1226510 [GRCh38] Chr19:1226509 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.181G>A (p.Gly61Ser)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000580228]	Chr19:1207094 [GRCh38] Chr19:1207093 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.525_532dup (p.Lys178fs)	duplication	Peutz-Jeghers syndrome [RCV000542348]	Chr19:1220431..1220432 [GRCh38] Chr19:1220430..1220431 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.801C>T (p.Ile267=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000570226]\|Peutz-Jeghers syndrome [RCV001082693]\|not provided [RCV000541788]	Chr19:1221279 [GRCh38] Chr19:1221278 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.1257C>G (p.Ser419=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002420373]\|Peutz-Jeghers syndrome [RCV001393528]	Chr19:1226602 [GRCh38] Chr19:1226601 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.1011G>A (p.Val337=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000561333]\|Peutz-Jeghers syndrome [RCV002060532]	Chr19:1223075 [GRCh38] Chr19:1223074 [GRCh37] Chr19:19p13.3	likely benign
GRCh38/hg38 19p13.3(chr19:259395-2555149)x3	copy number gain	See cases [RCV000051044]	Chr19:259395..2555149 [GRCh38] Chr19:259395..2555147 [GRCh37] Chr19:210395..2506147 [NCBI36] Chr19:19p13.3	pathogenic
GRCh38/hg38 19p13.3(chr19:591812-1358152)x3	copy number gain	See cases [RCV000052877]	Chr19:591812..1358152 [GRCh38] Chr19:591812..1358151 [GRCh37] Chr19:542812..1309151 [NCBI36] Chr19:19p13.3	pathogenic
GRCh38/hg38 19p13.3(chr19:259395-1952650)x3	copy number gain	See cases [RCV000052875]	Chr19:259395..1952650 [GRCh38] Chr19:259395..1952649 [GRCh37] Chr19:210395..1903649 [NCBI36] Chr19:19p13.3	pathogenic
GRCh38/hg38 19p13.3-13.2(chr19:265917-8564134)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052876]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052876]\|See cases [RCV000052876]	Chr19:265917..8564134 [GRCh38] Chr19:265917..8629018 [GRCh37] Chr19:216917..8535018 [NCBI36] Chr19:19p13.3-13.2	pathogenic
GRCh38/hg38 19p13.3(chr19:233565-4699472)x3	copy number gain	See cases [RCV000052575]	Chr19:233565..4699472 [GRCh38] Chr19:233565..4699484 [GRCh37] Chr19:184565..4650484 [NCBI36] Chr19:19p13.3	pathogenic
GRCh38/hg38 19p13.3(chr19:1143045-1215323)x3	copy number gain	See cases [RCV000054106]	Chr19:1143045..1215323 [GRCh38] Chr19:1143044..1215322 [GRCh37] Chr19:1094044..1166322 [NCBI36] Chr19:19p13.3	uncertain significance
GRCh38/hg38 19p13.3(chr19:945098-1972299)x1	copy number loss	See cases [RCV000053938]	Chr19:945098..1972299 [GRCh38] Chr19:945098..1972298 [GRCh37] Chr19:896098..1923298 [NCBI36] Chr19:19p13.3	pathogenic
GRCh38/hg38 19p13.3(chr19:1156372-1228333)x1	copy number loss	See cases [RCV000053939]	Chr19:1156372..1228333 [GRCh38] Chr19:1156371..1228332 [GRCh37] Chr19:1107371..1179332 [NCBI36] Chr19:19p13.3	pathogenic
GRCh38/hg38 19p13.3(chr19:1191935-1253715)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053940]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053940]\|See cases [RCV000053940]	Chr19:1191935..1253715 [GRCh38] Chr19:1191934..1253714 [GRCh37] Chr19:1142934..1204714 [NCBI36] Chr19:19p13.3	pathogenic
GRCh38/hg38 19p13.3(chr19:259195-1351363)x1	copy number loss	See cases [RCV000053910]	Chr19:259195..1351363 [GRCh38] Chr19:259195..1351362 [GRCh37] Chr19:210195..1302362 [NCBI36] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.540del (p.Asn181fs)	deletion	Hereditary cancer-predisposing syndrome [RCV002343400]\|Peutz-Jeghers syndrome [RCV002289947]\|not provided [RCV000657247]	Chr19:1220445 [GRCh38] Chr19:1220444 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.1189G>T (p.Ala397Ser)	single nucleotide variant	Breast and/or ovarian cancer [RCV001798331]\|Hereditary cancer-predisposing syndrome [RCV000576049]\|Peutz-Jeghers syndrome [RCV000195603]\|not provided [RCV000115595]\|not specified [RCV003235043]	Chr19:1226534 [GRCh38] Chr19:1226533 [GRCh37] Chr19:19p13.3	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_000455.5(STK11):c.6G>A (p.Glu2=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000568826]\|Peutz-Jeghers syndrome [RCV001406773]	Chr19:1206919 [GRCh38] Chr19:1206918 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.1260_1290del (p.Lys423fs)	deletion	not provided [RCV000723023]	Chr19:1226603..1226633 [GRCh38] Chr19:1226602..1226632 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.888G>C (p.Lys296Asn)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000562619]	Chr19:1221974 [GRCh38] Chr19:1221973 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1133G>C (p.Ser378Thr)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000562623]	Chr19:1226478 [GRCh38] Chr19:1226477 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.169dup (p.Glu57fs)	duplication	Hereditary cancer-predisposing syndrome [RCV000492387]\|Peutz-Jeghers syndrome [RCV001808309]\|not provided [RCV000078911]	Chr19:1207077..1207078 [GRCh38] Chr19:1207076..1207077 [GRCh37] Chr19:19p13.3	pathogenic\|likely pathogenic
NM_000455.5(STK11):c.264C>A (p.Ile88=)	single nucleotide variant	Breast and/or ovarian cancer [RCV003149766]\|Hereditary cancer-predisposing syndrome [RCV000129391]\|Malignant tumor of breast [RCV001357260]\|Peutz-Jeghers syndrome [RCV000406309]\|Squamous cell lung carcinoma [RCV001250944]\|not provided [RCV001536943]\|not specified [RCV000078912]	Chr19:1207177 [GRCh38] Chr19:1207176 [GRCh37] Chr19:19p13.3	benign\|likely benign\|conflicting interpretations of pathogenicity
NM_000455.5(STK11):c.877G>T (p.Glu293Ter)	single nucleotide variant	not provided [RCV000078913]	Chr19:1221963 [GRCh38] Chr19:1221962 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.920+7G>C	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000129163]\|Peutz-Jeghers syndrome [RCV000288977]\|not provided [RCV001356284]\|not specified [RCV000078914]	Chr19:1222013 [GRCh38] Chr19:1222012 [GRCh37] Chr19:19p13.3	benign\|uncertain significance
NM_000455.5(STK11):c.921-1G>T	single nucleotide variant	not provided [RCV000078915]	Chr19:1222984 [GRCh38] Chr19:1222983 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.1045G>A (p.Glu349Lys)	single nucleotide variant	B Lymphoblastic Leukemia/Lymphoma, Not Otherwise Specified [RCV000761075]\|Hereditary cancer-predisposing syndrome [RCV000573750]\|Peutz-Jeghers syndrome [RCV000476845]\|not provided [RCV000115592]\|not specified [RCV000781887]	Chr19:1223109 [GRCh38] Chr19:1223108 [GRCh37] Chr19:19p13.3	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_000455.5(STK11):c.1127A>C (p.Glu376Ala)	single nucleotide variant	Breast and/or ovarian cancer [RCV003492475]\|Hereditary cancer-predisposing syndrome [RCV000115594]\|Peutz-Jeghers syndrome [RCV000205503]\|not provided [RCV000586344]\|not specified [RCV000855606]	Chr19:1226472 [GRCh38] Chr19:1226471 [GRCh37] Chr19:19p13.3	conflicting interpretations of pathogenicity\|uncertain significance
NM_000455.5(STK11):c.1211C>T (p.Ser404Phe)	single nucleotide variant	Breast and/or ovarian cancer [RCV003149797]\|Hereditary cancer-predisposing syndrome [RCV000115596]\|Malignant tumor of breast [RCV001269488]\|Peutz-Jeghers syndrome [RCV000200450]\|STK11-related condition [RCV003891608]\|not provided [RCV000589835]\|not specified [RCV000213035]	Chr19:1226556 [GRCh38] Chr19:1226555 [GRCh37] Chr19:19p13.3	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance\|conflicting data from submitters
NM_000455.5(STK11):c.1229C>T (p.Ala410Val)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000115597]\|Peutz-Jeghers syndrome [RCV000200053]\|not provided [RCV000213038]\|not specified [RCV002281935]	Chr19:1226574 [GRCh38] Chr19:1226573 [GRCh37] Chr19:19p13.3	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_000455.5(STK11):c.291-18_291-17del	deletion	Hereditary cancer-predisposing syndrome [RCV000771341]\|Peutz-Jeghers syndrome [RCV001808342]\|not provided [RCV000115598]	Chr19:1218399..1218400 [GRCh38] Chr19:1218398..1218399 [GRCh37] Chr19:19p13.3	likely benign\|uncertain significance
NM_000455.5(STK11):c.465-4G>A	single nucleotide variant	Breast and/or ovarian cancer [RCV001798332]\|Breast carcinoma [RCV001262518]\|Hereditary cancer-predisposing syndrome [RCV000115599]\|Malignant tumor of breast [RCV001354249]\|Peutz-Jeghers syndrome [RCV000144662]\|not provided [RCV000679320]\|not specified [RCV000213012]	Chr19:1220369 [GRCh38] Chr19:1220368 [GRCh37] Chr19:19p13.3	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_000455.5(STK11):c.704A>C (p.Lys235Thr)	single nucleotide variant	Melanoma, cutaneous malignant, susceptibility to, 1 [RCV003467049]\|Peutz-Jeghers syndrome [RCV000204132]\|not provided [RCV000115600]	Chr19:1220687 [GRCh38] Chr19:1220686 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.842C>A (p.Pro281Gln)	single nucleotide variant	Carcinoma of pancreas [RCV001293889]\|Hereditary cancer-predisposing syndrome [RCV000115601]\|Peutz-Jeghers syndrome [RCV000476631]\|not provided [RCV000213021]	Chr19:1221320 [GRCh38] Chr19:1221319 [GRCh37] Chr19:19p13.3	conflicting interpretations of pathogenicity\|uncertain significance
NM_000455.5(STK11):c.875A>T (p.Tyr292Phe)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000214773]\|Peutz-Jeghers syndrome [RCV000559287]\|not provided [RCV000115602]	Chr19:1221961 [GRCh38] Chr19:1221960 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.894C>A (p.Phe298Leu)	single nucleotide variant	Carcinoma of pancreas [RCV001293890]\|Hereditary cancer-predisposing syndrome [RCV000115603]\|Peutz-Jeghers syndrome [RCV000195949]\|STK11-related condition [RCV003891609]\|not provided [RCV003114259]\|not specified [RCV000213024]	Chr19:1221980 [GRCh38] Chr19:1221979 [GRCh37] Chr19:19p13.3	likely pathogenic\|benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance\|conflicting data from submitters
NM_000455.5(STK11):c.901C>T (p.Arg301Trp)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000775659]\|Peutz-Jeghers syndrome [RCV000467481]\|not provided [RCV000115604]	Chr19:1221987 [GRCh38] Chr19:1221986 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.920+5G>A	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000115605]\|Peutz-Jeghers syndrome [RCV000204699]\|not provided [RCV000588193]\|not specified [RCV000213026]	Chr19:1222011 [GRCh38] Chr19:1222010 [GRCh37] Chr19:19p13.3	conflicting interpretations of pathogenicity\|uncertain significance
NM_000455.5(STK11):c.970C>G (p.Pro324Ala)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000115606]\|Peutz-Jeghers syndrome [RCV000168083]\|STK11-related condition [RCV003964969]\|not provided [RCV003477496]\|not specified [RCV000213028]	Chr19:1223034 [GRCh38] Chr19:1223033 [GRCh37] Chr19:19p13.3	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance\|conflicting data from submitters
NM_000455.5(STK11):c.970C>T (p.Pro324Ser)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000775661]\|Peutz-Jeghers syndrome [RCV000467660]\|not provided [RCV000115607]	Chr19:1223034 [GRCh38] Chr19:1223033 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1113G>A (p.Gln371=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001185727]\|Peutz-Jeghers syndrome [RCV000123053]	Chr19:1226458 [GRCh38] Chr19:1226457 [GRCh37] Chr19:19p13.3	likely benign\|uncertain significance
NM_000455.5(STK11):c.1185A>G (p.Thr395=)	single nucleotide variant	Breast and/or ovarian cancer [RCV001798402]\|Hereditary cancer-predisposing syndrome [RCV000128303]\|Malignant tumor of breast [RCV001357027]\|Peutz-Jeghers syndrome [RCV000123054]\|not provided [RCV000586467]\|not specified [RCV000213032]	Chr19:1226530 [GRCh38] Chr19:1226529 [GRCh37] Chr19:19p13.3	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance\|conflicting data from submitters
NM_000455.5(STK11):c.1194G>A (p.Ala398=)	single nucleotide variant	Carcinoma of pancreas [RCV002498583]\|Hereditary cancer-predisposing syndrome [RCV000128304]\|Malignant tumor of breast [RCV001357670]\|Peutz-Jeghers syndrome [RCV001080617]\|not provided [RCV000588156]\|not specified [RCV000213034]	Chr19:1226539 [GRCh38] Chr19:1226538 [GRCh37] Chr19:19p13.3	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance\|conflicting data from submitters
NM_000455.5(STK11):c.1225C>T (p.Arg409Trp)	single nucleotide variant	Breast carcinoma [RCV000414992]\|Hereditary cancer-predisposing syndrome [RCV000131250]\|Peutz-Jeghers syndrome [RCV000123056]\|not provided [RCV000656985]\|not specified [RCV000216380]	Chr19:1226570 [GRCh38] Chr19:1226569 [GRCh37] Chr19:19p13.3	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_000455.5(STK11):c.1254C>G (p.Cys418Trp)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000131151]\|Peutz-Jeghers syndrome [RCV000123057]\|not provided [RCV000585976]\|not specified [RCV002281949]	Chr19:1226599 [GRCh38] Chr19:1226598 [GRCh37] Chr19:19p13.3	conflicting interpretations of pathogenicity\|uncertain significance
NM_000455.5(STK11):c.301C>G (p.Leu101Val)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000568071]\|Peutz-Jeghers syndrome [RCV000123058]\|not provided [RCV000588542]	Chr19:1218427 [GRCh38] Chr19:1218426 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.434A>G (p.Glu145Gly)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000566308]\|Peutz-Jeghers syndrome [RCV000123059]\|not provided [RCV001785473]\|not specified [RCV000781891]	Chr19:1219383 [GRCh38] Chr19:1219382 [GRCh37] Chr19:19p13.3	conflicting interpretations of pathogenicity\|uncertain significance
NM_000455.5(STK11):c.440G>A (p.Arg147His)	single nucleotide variant	Breast and/or ovarian cancer [RCV003492539]\|Hereditary cancer-predisposing syndrome [RCV000565548]\|Peutz-Jeghers syndrome [RCV000123060]\|not provided [RCV000216877]	Chr19:1219389 [GRCh38] Chr19:1219388 [GRCh37] Chr19:19p13.3	conflicting interpretations of pathogenicity\|uncertain significance
NM_000455.5(STK11):c.447A>G (p.Pro149=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000771625]\|Peutz-Jeghers syndrome [RCV000123061]	Chr19:1219396 [GRCh38] Chr19:1219395 [GRCh37] Chr19:19p13.3	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_000455.5(STK11):c.552C>T (p.Leu184=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000164592]\|Peutz-Jeghers syndrome [RCV001084776]\|STK11-related condition [RCV003945109]\|not provided [RCV000123062]\|not specified [RCV000507150]	Chr19:1220460 [GRCh38] Chr19:1220459 [GRCh37] Chr19:19p13.3	benign\|likely benign\|uncertain significance
NM_000455.5(STK11):c.598-8C>T	single nucleotide variant	Carcinoma of pancreas [RCV002483234]\|Hereditary cancer-predisposing syndrome [RCV000131148]\|Malignant tumor of breast [RCV001355241]\|Peutz-Jeghers syndrome [RCV001083841]\|not provided [RCV000589505]\|not specified [RCV000213015]	Chr19:1220573 [GRCh38] Chr19:1220572 [GRCh37] Chr19:19p13.3	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance\|conflicting data from submitters
NM_000455.5(STK11):c.663G>A (p.Pro221=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000574957]\|Peutz-Jeghers syndrome [RCV000123064]\|not specified [RCV000444505]	Chr19:1220646 [GRCh38] Chr19:1220645 [GRCh37] Chr19:19p13.3	likely benign\|uncertain significance
NM_000455.5(STK11):c.721G>A (p.Ala241Thr)	single nucleotide variant	Breast and/or ovarian cancer [RCV003492540]\|Hereditary cancer-predisposing syndrome [RCV000580621]\|Melanoma, cutaneous malignant, susceptibility to, 1 [RCV003467088]\|Peutz-Jeghers syndrome [RCV000123065]\|not provided [RCV000161005]	Chr19:1220704 [GRCh38] Chr19:1220703 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.723T>C (p.Ala241=)	single nucleotide variant	Breast and/or ovarian cancer [RCV003492541]\|Hereditary cancer-predisposing syndrome [RCV000163237]\|Peutz-Jeghers syndrome [RCV000123066]\|not provided [RCV001532362]\|not specified [RCV000418469]	Chr19:1220706 [GRCh38] Chr19:1220705 [GRCh37] Chr19:19p13.3	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_000455.5(STK11):c.920+7G>T	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000775660]\|Peutz-Jeghers syndrome [RCV001083565]\|not specified [RCV000438894]	Chr19:1222013 [GRCh38] Chr19:1222012 [GRCh37] Chr19:19p13.3	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_000455.5(STK11):c.945G>A (p.Pro315=)	single nucleotide variant	Breast and/or ovarian cancer [RCV001798403]\|Hereditary cancer-predisposing syndrome [RCV000128301]\|Malignant tumor of breast [RCV001357889]\|Peutz-Jeghers syndrome [RCV000990133]\|STK11-related condition [RCV003935174]\|not provided [RCV000756723]\|not specified [RCV000213027]	Chr19:1223009 [GRCh38] Chr19:1223008 [GRCh37] Chr19:19p13.3	benign\|likely benign\|conflicting interpretations of pathogenicity\|conflicting data from submitters
NM_000455.5(STK11):c.96C>G (p.Thr32=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000160981]\|Malignant tumor of breast [RCV001357485]\|Peutz-Jeghers syndrome [RCV000123069]\|not provided [RCV003407530]\|not specified [RCV000213009]	Chr19:1207009 [GRCh38] Chr19:1207008 [GRCh37] Chr19:19p13.3	benign\|likely benign\|conflicting interpretations of pathogenicity\|conflicting data from submitters
NM_000455.5(STK11):c.971C>T (p.Pro324Leu)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000163389]\|Peutz-Jeghers syndrome [RCV000123070]\|not provided [RCV001556031]	Chr19:1223035 [GRCh38] Chr19:1223034 [GRCh37] Chr19:19p13.3	conflicting interpretations of pathogenicity\|uncertain significance
NM_000455.5(STK11):c.619G>A (p.Asp207Asn)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003162557]\|not specified [RCV000122090]	Chr19:1220602 [GRCh38] Chr19:1220601 [GRCh37] Chr19:19p13.3	uncertain significance\|not provided
NM_000455.5(STK11):c.1088C>T (p.Thr363Ile)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000219976]\|Peutz-Jeghers syndrome [RCV000206210]\|not provided [RCV000656983]\|not specified [RCV000122092]	Chr19:1223152 [GRCh38] Chr19:1223151 [GRCh37] Chr19:19p13.3	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance\|not provided
NM_000455.5(STK11):c.1072G>A (p.Asp358Asn)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000579806]\|Peutz-Jeghers syndrome [RCV000470035]\|not specified [RCV000122093]	Chr19:1223136 [GRCh38] Chr19:1223135 [GRCh37] Chr19:19p13.3	uncertain significance\|not provided
NM_000455.5(STK11):c.243G>A (p.Lys81=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001015543]\|Peutz-Jeghers syndrome [RCV001860294]\|not specified [RCV000602905]	Chr19:1207156 [GRCh38] Chr19:1207155 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.375-7G>A	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000580100]\|Peutz-Jeghers syndrome [RCV000195449]\|not provided [RCV000586954]\|not specified [RCV000128292]	Chr19:1219317 [GRCh38] Chr19:1219316 [GRCh37] Chr19:19p13.3	pathogenic\|benign\|likely benign\|conflicting interpretations of pathogenicity
NM_000455.5(STK11):c.464+9G>A	single nucleotide variant	Breast and/or ovarian cancer [RCV001798430]\|Hereditary cancer-predisposing syndrome [RCV000131962]\|Malignant tumor of breast [RCV001356286]\|Peutz-Jeghers syndrome [RCV000198311]\|STK11-related condition [RCV003915279]\|not provided [RCV000587711]\|not specified [RCV000213011]	Chr19:1219422 [GRCh38] Chr19:1219421 [GRCh37] Chr19:19p13.3	benign\|likely benign\|conflicting interpretations of pathogenicity\|conflicting data from submitters
NM_000455.5(STK11):c.465-18G>T	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000581054]\|Peutz-Jeghers syndrome [RCV000411106]\|not provided [RCV000679319]\|not specified [RCV000128294]	Chr19:1220355 [GRCh38] Chr19:1220354 [GRCh37] Chr19:19p13.3	benign\|likely benign
NM_000455.5(STK11):c.597+8C>T	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000131656]\|Peutz-Jeghers syndrome [RCV000457082]\|STK11-related condition [RCV003915280]\|not provided [RCV003477535]\|not specified [RCV000213014]	Chr19:1220513 [GRCh38] Chr19:1220512 [GRCh37] Chr19:19p13.3	benign\|likely benign\|conflicting interpretations of pathogenicity\|conflicting data from submitters
NM_000455.5(STK11):c.734+20G>A	single nucleotide variant	Breast and/or ovarian cancer [RCV003149874]\|Hereditary cancer-predisposing syndrome [RCV000128909]\|Peutz-Jeghers syndrome [RCV000410646]\|STK11-related condition [RCV003915281]\|not specified [RCV000213017]	Chr19:1220737 [GRCh38] Chr19:1220736 [GRCh37] Chr19:19p13.3	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance\|conflicting data from submitters
NM_000455.5(STK11):c.787T>C (p.Leu263=)	single nucleotide variant	Breast and/or ovarian cancer [RCV001798431]\|Hereditary cancer-predisposing syndrome [RCV000128297]\|Malignant tumor of breast [RCV001354164]\|Peutz-Jeghers syndrome [RCV000200266]\|STK11-related condition [RCV003945142]\|not provided [RCV001528533]\|not specified [RCV000213018]	Chr19:1221265 [GRCh38] Chr19:1221264 [GRCh37] Chr19:19p13.3	benign\|likely benign\|conflicting interpretations of pathogenicity\|conflicting data from submitters
NM_000455.5(STK11):c.825G>A (p.Pro275=)	single nucleotide variant	Breast and/or ovarian cancer [RCV003149875]\|Hereditary cancer-predisposing syndrome [RCV000129143]\|Peutz-Jeghers syndrome [RCV000200552]\|not provided [RCV000759361]\|not specified [RCV000213020]	Chr19:1221303 [GRCh38] Chr19:1221302 [GRCh37] Chr19:19p13.3	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance\|conflicting data from submitters
NM_000455.5(STK11):c.882G>A (p.Pro294=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000128299]\|Malignant tumor of breast [RCV001357918]\|Peutz-Jeghers syndrome [RCV000473797]\|STK11-related condition [RCV003905222]\|not specified [RCV000213023]	Chr19:1221968 [GRCh38] Chr19:1221967 [GRCh37] Chr19:19p13.3	benign\|likely benign\|conflicting interpretations of pathogenicity\|conflicting data from submitters
NM_000455.5(STK11):c.921-10G>A	single nucleotide variant	Breast and/or ovarian cancer [RCV003149876]\|Hereditary cancer-predisposing syndrome [RCV000579573]\|Peutz-Jeghers syndrome [RCV000200730]\|STK11-related condition [RCV003925271]\|not provided [RCV001357217]\|not specified [RCV000128300]	Chr19:1222975 [GRCh38] Chr19:1222974 [GRCh37] Chr19:19p13.3	benign\|likely benign\|conflicting interpretations of pathogenicity
NM_000455.5(STK11):c.1296G>A (p.Gln432=)	single nucleotide variant	Breast and/or ovarian cancer [RCV003492578]\|Hereditary cancer-predisposing syndrome [RCV000128305]\|Peutz-Jeghers syndrome [RCV001079439]\|not provided [RCV000588407]\|not specified [RCV000213036]	Chr19:1226641 [GRCh38] Chr19:1226640 [GRCh37] Chr19:19p13.3	benign\|likely benign\|conflicting interpretations of pathogenicity\|conflicting data from submitters
NM_000455.5(STK11):c.*8C>T	single nucleotide variant	Breast and/or ovarian cancer [RCV003492579]\|Hereditary cancer-predisposing syndrome [RCV000130973]\|Malignant tumor of breast [RCV001354382]\|Peutz-Jeghers syndrome [RCV000339554]\|not provided [RCV000679315]\|not specified [RCV000213042]	Chr19:1226655 [GRCh38] Chr19:1226654 [GRCh37] Chr19:19p13.3	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance\|conflicting data from submitters
NM_000455.5(STK11):c.*16+10G>A	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002256084]\|Peutz-Jeghers syndrome [RCV000407873]\|not provided [RCV001725126]\|not specified [RCV000128307]	Chr19:1226673 [GRCh38] Chr19:1226672 [GRCh37] Chr19:19p13.3	benign\|likely benign\|uncertain significance
NM_000455.5(STK11):c.*34C>T	single nucleotide variant	not specified [RCV000128308]	Chr19:1227610 [GRCh38] Chr19:1227609 [GRCh37] Chr19:19p13.3	benign
NM_000455.5(STK11):c.149T>G (p.Leu50Arg)	single nucleotide variant	Peutz-Jeghers syndrome [RCV000144661]	Chr19:1207062 [GRCh38] Chr19:1207061 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.449T>C (p.Val150Ala)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000130068]\|Peutz-Jeghers syndrome [RCV000199606]\|STK11-related condition [RCV003415947]\|not provided [RCV001557521]\|not specified [RCV000582047]	Chr19:1219398 [GRCh38] Chr19:1219397 [GRCh37] Chr19:19p13.3	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance
NM_000455.5(STK11):c.574del (p.Ile192fs)	deletion	Hereditary cancer-predisposing syndrome [RCV000130164]	Chr19:1220479 [GRCh38] Chr19:1220478 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.988dup (p.Asp330fs)	duplication	not provided [RCV000153995]	Chr19:1223050..1223051 [GRCh38] Chr19:1223049..1223050 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.952G>C (p.Ala318Pro)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000130345]\|Peutz-Jeghers syndrome [RCV001217530]	Chr19:1223016 [GRCh38] Chr19:1223015 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.734+1G>T	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000130447]\|Peutz-Jeghers syndrome [RCV001849934]	Chr19:1220718 [GRCh38] Chr19:1220717 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.1109-5C>T	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000130449]\|Peutz-Jeghers syndrome [RCV000200085]\|STK11-related condition [RCV003935221]\|not provided [RCV001711399]\|not specified [RCV000780768]	Chr19:1226449 [GRCh38] Chr19:1226448 [GRCh37] Chr19:19p13.3	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_000455.5(STK11):c.1238C>T (p.Pro413Leu)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000130536]\|Peutz-Jeghers syndrome [RCV000705839]	Chr19:1226583 [GRCh38] Chr19:1226582 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.559G>A (p.Gly187Ser)	single nucleotide variant	Hereditary cancer [RCV003492602]\|Hereditary cancer-predisposing syndrome [RCV000130480]\|Malignant tumor of breast [RCV001358086]\|Peutz-Jeghers syndrome [RCV000198594]\|not provided [RCV000590446]\|not specified [RCV000855607]	Chr19:1220467 [GRCh38] Chr19:1220466 [GRCh37] Chr19:19p13.3	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_000455.5(STK11):c.241AAG[3] (p.Lys84del)	microsatellite	Hereditary cancer-predisposing syndrome [RCV000130530]\|Melanoma, cutaneous malignant, susceptibility to, 1 [RCV003460930]\|Peutz-Jeghers syndrome [RCV000693561]	Chr19:1207154..1207156 [GRCh38] Chr19:1207153..1207155 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1040C>G (p.Ala347Gly)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000130534]\|Peutz-Jeghers syndrome [RCV000527203]\|not provided [RCV000217158]	Chr19:1223104 [GRCh38] Chr19:1223103 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1036G>A (p.Gly346Ser)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000130584]\|Peutz-Jeghers syndrome [RCV000206247]\|not specified [RCV000482308]	Chr19:1223100 [GRCh38] Chr19:1223099 [GRCh37] Chr19:19p13.3	conflicting interpretations of pathogenicity\|uncertain significance
NM_000455.5(STK11):c.290+4_290+7del	microsatellite	Hereditary cancer-predisposing syndrome [RCV000130608]\|Peutz-Jeghers syndrome [RCV000690961]	Chr19:1207202..1207205 [GRCh38] Chr19:1207201..1207204 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.316C>T (p.Arg106Trp)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000130634]\|Peutz-Jeghers syndrome [RCV000204388]\|STK11-related condition [RCV003407548]\|not provided [RCV000220149]\|not specified [RCV003330503]	Chr19:1218442 [GRCh38] Chr19:1218441 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1183A>G (p.Thr395Ala)	single nucleotide variant	Carcinoma of pancreas [RCV002478395]\|Hereditary cancer-predisposing syndrome [RCV000130688]\|Peutz-Jeghers syndrome [RCV000230363]\|not provided [RCV001800436]	Chr19:1226528 [GRCh38] Chr19:1226527 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.992G>A (p.Arg331Gln)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000130707]\|Peutz-Jeghers syndrome [RCV000199024]\|not provided [RCV000486850]\|not specified [RCV002465530]	Chr19:1223056 [GRCh38] Chr19:1223055 [GRCh37] Chr19:19p13.3	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_000455.5(STK11):c.650C>T (p.Pro217Leu)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000130710]\|Peutz-Jeghers syndrome [RCV001317687]	Chr19:1220633 [GRCh38] Chr19:1220632 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1130C>T (p.Ala377Val)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000130754]\|Peutz-Jeghers syndrome [RCV000195574]\|not provided [RCV000483853]	Chr19:1226475 [GRCh38] Chr19:1226474 [GRCh37] Chr19:19p13.3	conflicting interpretations of pathogenicity\|uncertain significance
NM_000455.5(STK11):c.465-5C>T	single nucleotide variant	Breast and/or ovarian cancer [RCV003492604]\|Carcinoma of colon [RCV001355110]\|Hereditary cancer-predisposing syndrome [RCV000130832]\|Peutz-Jeghers syndrome [RCV000199796]\|not provided [RCV001705929]\|not specified [RCV003321514]	Chr19:1220368 [GRCh38] Chr19:1220367 [GRCh37] Chr19:19p13.3	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_000455.5(STK11):c.817G>A (p.Ala273Thr)	single nucleotide variant	Generalized juvenile polyposis/juvenile polyposis coli [RCV001356427]\|Hereditary cancer-predisposing syndrome [RCV000130859]\|Peutz-Jeghers syndrome [RCV000196939]\|not provided [RCV000587949]	Chr19:1221295 [GRCh38] Chr19:1221294 [GRCh37] Chr19:19p13.3	likely benign\|uncertain significance
NM_000455.5(STK11):c.842C>T (p.Pro281Leu)	single nucleotide variant	Hereditary breast ovarian cancer syndrome [RCV001030733]\|Hereditary cancer-predisposing syndrome [RCV000130951]\|Neoplasm [RCV000419015]\|Ovarian cancer [RCV003153424]\|Peutz-Jeghers syndrome [RCV000232126]\|not provided [RCV001719902]\|not specified [RCV000235215]	Chr19:1221320 [GRCh38] Chr19:1221319 [GRCh37] Chr19:19p13.3	likely pathogenic\|benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance\|conflicting data from submitters
NM_000455.4(STK11):c.*8C>T	single nucleotide variant	Neoplastic Syndromes, Hereditary [RCV000130973]	Chr19:1226655 [GRCh38] Chr19:1226654 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.998G>A (p.Arg333His)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000131004]\|Peutz-Jeghers syndrome [RCV000206257]	Chr19:1223062 [GRCh38] Chr19:1223061 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1120G>C (p.Glu374Gln)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000131158]\|not provided [RCV002273959]	Chr19:1226465 [GRCh38] Chr19:1226464 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1202G>A (p.Ser401Asn)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000131172]\|Melanoma, cutaneous malignant, susceptibility to, 1 [RCV003462008]\|Peutz-Jeghers syndrome [RCV000703409]\|not specified [RCV002465531]	Chr19:1226547 [GRCh38] Chr19:1226546 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1012G>A (p.Val338Met)	single nucleotide variant	Carcinoma of pancreas [RCV000765433]\|Familial adenomatous polyposis 2 [RCV002243796]\|Generalized juvenile polyposis/juvenile polyposis coli [RCV001354464]\|Hereditary cancer-predisposing syndrome [RCV000131186]\|Peutz-Jeghers syndrome [RCV000168376]\|STK11-related condition [RCV003407552]\|not provided [RCV000222337]	Chr19:1223076 [GRCh38] Chr19:1223075 [GRCh37] Chr19:19p13.3	conflicting interpretations of pathogenicity\|uncertain significance
NM_000455.5(STK11):c.52A>C (p.Met18Leu)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000131221]\|Peutz-Jeghers syndrome [RCV000541150]	Chr19:1206965 [GRCh38] Chr19:1206964 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1168G>A (p.Val390Met)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000131310]\|Ovarian cancer [RCV003153425]\|Peutz-Jeghers syndrome [RCV000536228]\|not provided [RCV000482811]\|not specified [RCV001290662]	Chr19:1226513 [GRCh38] Chr19:1226512 [GRCh37] Chr19:19p13.3	benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_000455.5(STK11):c.1147C>T (p.Arg383Cys)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000131320]\|Intestinal polyposis [RCV002287369]\|Peutz-Jeghers syndrome [RCV000168106]\|not specified [RCV001255473]	Chr19:1226492 [GRCh38] Chr19:1226491 [GRCh37] Chr19:19p13.3	conflicting interpretations of pathogenicity\|uncertain significance
NM_000455.5(STK11):c.1226G>A (p.Arg409Gln)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000131326]\|Peutz-Jeghers syndrome [RCV000197480]\|not provided [RCV000657038]\|not specified [RCV000487216]	Chr19:1226571 [GRCh38] Chr19:1226570 [GRCh37] Chr19:19p13.3	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_000455.5(STK11):c.464+20G>A	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000131340]	Chr19:1219433 [GRCh38] Chr19:1219432 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.290+7A>G	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000131344]\|Peutz-Jeghers syndrome [RCV000632854]\|not specified [RCV000443963]	Chr19:1207210 [GRCh38] Chr19:1207209 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.608C>T (p.Pro203Leu)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000131373]\|Peutz-Jeghers syndrome [RCV000536349]\|not provided [RCV000219794]	Chr19:1220591 [GRCh38] Chr19:1220590 [GRCh37] Chr19:19p13.3	conflicting interpretations of pathogenicity\|uncertain significance
NM_000455.5(STK11):c.618G>A (p.Ala206=)	single nucleotide variant	Breast and/or ovarian cancer [RCV001798450]\|Hereditary cancer-predisposing syndrome [RCV000131380]\|Malignant tumor of breast [RCV001357059]\|Peutz-Jeghers syndrome [RCV000477653]\|not provided [RCV001704058]\|not specified [RCV002267880]	Chr19:1220601 [GRCh38] Chr19:1220600 [GRCh37] Chr19:19p13.3	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_000455.5(STK11):c.464+4C>T	single nucleotide variant	Breast and/or ovarian cancer [RCV003492623]\|Hereditary cancer-predisposing syndrome [RCV000131463]\|Peutz-Jeghers syndrome [RCV000204358]\|STK11-related condition [RCV003891668]\|not provided [RCV000485485]	Chr19:1219417 [GRCh38] Chr19:1219416 [GRCh37] Chr19:19p13.3	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_000455.5(STK11):c.297T>G (p.Ile99Met)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000131468]\|Peutz-Jeghers syndrome [RCV000803794]\|not provided [RCV002509240]	Chr19:1218423 [GRCh38] Chr19:1218422 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.464+14G>A	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000131472]\|Peutz-Jeghers syndrome [RCV001122237]	Chr19:1219427 [GRCh38] Chr19:1219426 [GRCh37] Chr19:19p13.3	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_000455.4(STK11):c.397_398delGT (p.Cys134Trpfs)	deletion	Hereditary cancer-predisposing syndrome [RCV000131478]\|Neoplastic Syndromes, Hereditary [RCV000131478]	Chr19:1219346..1219347 [GRCh38] Chr19:1219345..1219346 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.464+17G>A	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000131483]	Chr19:1219430 [GRCh38] Chr19:1219429 [GRCh37] Chr19:19p13.3	benign\|likely benign
NM_000455.5(STK11):c.464+19G>A	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000131486]	Chr19:1219432 [GRCh38] Chr19:1219431 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.598-11C>T	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000131489]\|Peutz-Jeghers syndrome [RCV000662968]	Chr19:1220570 [GRCh38] Chr19:1220569 [GRCh37] Chr19:19p13.3	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_000455.5(STK11):c.464+11G>A	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000131497]\|Peutz-Jeghers syndrome [RCV001849943]	Chr19:1219424 [GRCh38] Chr19:1219423 [GRCh37] Chr19:19p13.3	likely benign\|uncertain significance
NM_000455.5(STK11):c.1262GCA[1] (p.Ser422del)	microsatellite	Hereditary cancer-predisposing syndrome [RCV000131503]\|Peutz-Jeghers syndrome [RCV000229523]\|not provided [RCV000486911]	Chr19:1226605..1226607 [GRCh38] Chr19:1226604..1226606 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.464+10C>T	single nucleotide variant	Breast and/or ovarian cancer [RCV003492625]\|Carcinoma of pancreas [RCV002492513]\|Hereditary cancer-predisposing syndrome [RCV000131511]\|Peutz-Jeghers syndrome [RCV000196091]\|STK11-related condition [RCV003945149]\|not provided [RCV000590338]\|not specified [RCV000507764]	Chr19:1219423 [GRCh38] Chr19:1219422 [GRCh37] Chr19:19p13.3	benign\|likely benign\|conflicting interpretations of pathogenicity
NM_000455.5(STK11):c.464+12G>A	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000131513]	Chr19:1219425 [GRCh38] Chr19:1219424 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.464+13G>A	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000131524]\|Peutz-Jeghers syndrome [RCV002512547]	Chr19:1219426 [GRCh38] Chr19:1219425 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.464+18G>A	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000131525]	Chr19:1219431 [GRCh38] Chr19:1219430 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.614C>T (p.Ala205Val)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000131568]\|Peutz-Jeghers syndrome [RCV000168319]\|not provided [RCV000486177]	Chr19:1220597 [GRCh38] Chr19:1220596 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1160C>T (p.Pro387Leu)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000131621]\|Peutz-Jeghers syndrome [RCV000532633]	Chr19:1226505 [GRCh38] Chr19:1226504 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1151G>A (p.Arg384Gln)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000131727]\|Peutz-Jeghers syndrome [RCV000465830]\|not provided [RCV000986034]\|not specified [RCV002267881]	Chr19:1226496 [GRCh38] Chr19:1226495 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.661C>T (p.Pro221Ser)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000131756]\|Peutz-Jeghers syndrome [RCV001808399]	Chr19:1220644 [GRCh38] Chr19:1220643 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.835G>A (p.Gly279Ser)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000131920]	Chr19:1221313 [GRCh38] Chr19:1221312 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.877G>A (p.Glu293Lys)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000131978]\|Peutz-Jeghers syndrome [RCV000632837]	Chr19:1221963 [GRCh38] Chr19:1221962 [GRCh37] Chr19:19p13.3	conflicting interpretations of pathogenicity\|uncertain significance
NM_000455.5(STK11):c.1016C>T (p.Pro339Leu)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000132059]\|Melanoma, cutaneous malignant, susceptibility to, 1 [RCV003462029]\|Peutz-Jeghers syndrome [RCV000226438]\|not provided [RCV000483861]\|not specified [RCV003226211]	Chr19:1223080 [GRCh38] Chr19:1223079 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1225C>G (p.Arg409Gly)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000132082]\|Peutz-Jeghers syndrome [RCV000409343]\|not provided [RCV000509169]	Chr19:1226570 [GRCh38] Chr19:1226569 [GRCh37] Chr19:19p13.3	conflicting interpretations of pathogenicity\|uncertain significance\|not provided
NM_000455.5(STK11):c.1276C>G (p.Arg426Gly)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000132118]\|Melanoma, cutaneous malignant, susceptibility to, 1 [RCV003462033]\|Peutz-Jeghers syndrome [RCV000410170]\|not provided [RCV000485540]	Chr19:1226621 [GRCh38] Chr19:1226620 [GRCh37] Chr19:19p13.3	conflicting interpretations of pathogenicity\|uncertain significance
NM_000455.5(STK11):c.1068C>G (p.Ile356Met)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000132217]\|Peutz-Jeghers syndrome [RCV001043772]	Chr19:1223132 [GRCh38] Chr19:1223131 [GRCh37] Chr19:19p13.3	conflicting interpretations of pathogenicity\|uncertain significance
NM_000455.5(STK11):c.842del (p.Pro281fs)	deletion	Hereditary cancer-predisposing syndrome [RCV002444692]\|Peutz-Jeghers syndrome [RCV000172825]	Chr19:1221315 [GRCh38] Chr19:1221314 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.376T>C (p.Tyr126His)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000129014]	Chr19:1219325 [GRCh38] Chr19:1219324 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.310A>T (p.Arg104Trp)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000132324]\|Melanoma, cutaneous malignant, susceptibility to, 1 [RCV003462043]\|Peutz-Jeghers syndrome [RCV000227082]	Chr19:1218436 [GRCh38] Chr19:1218435 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.841C>A (p.Pro281Thr)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000132358]\|Peutz-Jeghers syndrome [RCV000468995]\|not provided [RCV000219471]	Chr19:1221319 [GRCh38] Chr19:1221318 [GRCh37] Chr19:19p13.3	conflicting interpretations of pathogenicity\|uncertain significance
NM_000455.5(STK11):c.1100C>T (p.Thr367Met)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000132421]\|Peutz-Jeghers syndrome [RCV000197228]\|not provided [RCV000222146]\|not specified [RCV002267886]	Chr19:1223164 [GRCh38] Chr19:1223163 [GRCh37] Chr19:19p13.3	conflicting interpretations of pathogenicity\|uncertain significance
NM_000455.5(STK11):c.1027G>A (p.Asp343Asn)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000129286]\|Peutz-Jeghers syndrome [RCV000197027]\|not provided [RCV000656982]\|not specified [RCV000213030]	Chr19:1223091 [GRCh38] Chr19:1223090 [GRCh37] Chr19:19p13.3	conflicting interpretations of pathogenicity\|uncertain significance
NM_000455.5(STK11):c.1190C>T (p.Ala397Val)	single nucleotide variant	Breast and/or ovarian cancer [RCV003149889]\|Hereditary cancer-predisposing syndrome [RCV000129317]\|Peutz-Jeghers syndrome [RCV000205254]\|not provided [RCV000656984]\|not specified [RCV000213033]	Chr19:1226535 [GRCh38] Chr19:1226534 [GRCh37] Chr19:19p13.3	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_000455.5(STK11):c.103A>G (p.Ile35Val)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000129339]\|Peutz-Jeghers syndrome [RCV000467257]\|not specified [RCV001844047]	Chr19:1207016 [GRCh38] Chr19:1207015 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1249G>T (p.Ala417Ser)	single nucleotide variant	Breast and/or ovarian cancer [RCV001798461]\|Hereditary cancer-predisposing syndrome [RCV000132509]\|Peutz-Jeghers syndrome [RCV000229071]	Chr19:1226594 [GRCh38] Chr19:1226593 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1109-12T>C	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000132546]	Chr19:1226442 [GRCh38] Chr19:1226441 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.977C>T (p.Pro326Leu)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000129420]\|Peutz-Jeghers syndrome [RCV000816867]	Chr19:1223041 [GRCh38] Chr19:1223040 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1039G>A (p.Ala347Thr)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000129447]\|Peutz-Jeghers syndrome [RCV000200813]\|not provided [RCV000590522]\|not specified [RCV000722120]	Chr19:1223103 [GRCh38] Chr19:1223102 [GRCh37] Chr19:19p13.3	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_000455.5(STK11):c.566C>T (p.Thr189Ile)	single nucleotide variant	Carcinoma of pancreas [RCV000765431]\|Hereditary breast ovarian cancer syndrome [RCV001030732]\|Hereditary cancer-predisposing syndrome [RCV000129498]\|Peutz-Jeghers syndrome [RCV000204187]\|not provided [RCV000587196]\|not specified [RCV000220770]	Chr19:1220474 [GRCh38] Chr19:1220473 [GRCh37] Chr19:19p13.3	conflicting interpretations of pathogenicity\|uncertain significance
NM_000455.5(STK11):c.1283C>G (p.Ser428Trp)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000129543]\|Peutz-Jeghers syndrome [RCV000549140]\|not provided [RCV000657082]\|not specified [RCV000216446]	Chr19:1226628 [GRCh38] Chr19:1226627 [GRCh37] Chr19:19p13.3	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_000455.5(STK11):c.816C>T (p.Tyr272=)	single nucleotide variant	Breast and/or ovarian cancer [RCV003149892]\|Hereditary cancer-predisposing syndrome [RCV000129587]\|Malignant tumor of breast [RCV001355314]\|Peutz-Jeghers syndrome [RCV000333429]\|not provided [RCV001580067]\|not specified [RCV000241793]	Chr19:1221294 [GRCh38] Chr19:1221293 [GRCh37] Chr19:19p13.3	benign\|likely benign\|conflicting interpretations of pathogenicity
NM_000455.5(STK11):c.369G>A (p.Gln123=)	single nucleotide variant	Breast and/or ovarian cancer [RCV003149893]\|Hereditary cancer-predisposing syndrome [RCV000129594]\|Peutz-Jeghers syndrome [RCV000205529]\|not provided [RCV001354720]\|not specified [RCV000246390]	Chr19:1218495 [GRCh38] Chr19:1218494 [GRCh37] Chr19:19p13.3	benign\|likely benign\|conflicting interpretations of pathogenicity
NM_000455.5(STK11):c.598-12G>A	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000129614]\|Peutz-Jeghers syndrome [RCV002055843]\|not specified [RCV000601362]	Chr19:1220569 [GRCh38] Chr19:1220568 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.464+7G>A	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000129615]	Chr19:1219420 [GRCh38] Chr19:1219419 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.465-3C>T	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000129708]\|Peutz-Jeghers syndrome [RCV000469246]	Chr19:1220370 [GRCh38] Chr19:1220369 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.598-17G>A	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000129738]\|Peutz-Jeghers syndrome [RCV002055844]	Chr19:1220564 [GRCh38] Chr19:1220563 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.1208A>G (p.Lys403Arg)	single nucleotide variant	Breast carcinoma [RCV000414913]\|Carcinoma of pancreas [RCV001197036]\|Hereditary cancer-predisposing syndrome [RCV000129742]\|Peutz-Jeghers syndrome [RCV000228045]\|STK11-related condition [RCV003415945]\|not provided [RCV000478346]	Chr19:1226553 [GRCh38] Chr19:1226552 [GRCh37] Chr19:19p13.3	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_000455.5(STK11):c.464+12G>T	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000129747]	Chr19:1219425 [GRCh38] Chr19:1219424 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.697G>A (p.Gly233Ser)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000129751]\|Peutz-Jeghers syndrome [RCV000802014]	Chr19:1220680 [GRCh38] Chr19:1220679 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.974G>T (p.Ser325Ile)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000129772]	Chr19:1223038 [GRCh38] Chr19:1223037 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.464+5G>A	single nucleotide variant	Breast and/or ovarian cancer [RCV003149895]\|Carcinoma of pancreas [RCV000765430]\|Hereditary cancer-predisposing syndrome [RCV000129842]\|Malignant tumor of breast [RCV001355662]\|Peutz-Jeghers syndrome [RCV000537602]\|not provided [RCV000986037]	Chr19:1219418 [GRCh38] Chr19:1219417 [GRCh37] Chr19:19p13.3	conflicting interpretations of pathogenicity\|uncertain significance
NM_000455.5(STK11):c.838_839delinsGT (p.Pro280Val)	indel	Hereditary cancer-predisposing syndrome [RCV000567932]\|Peutz-Jeghers syndrome [RCV000172823]\|not specified [RCV000600473]	Chr19:1221316..1221317 [GRCh38] Chr19:1221315..1221316 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.844dup (p.Leu282fs)	duplication	Peutz-Jeghers syndrome [RCV000172824]	Chr19:1221321..1221322 [GRCh38] Chr19:1221320..1221321 [GRCh37] Chr19:19p13.3	pathogenic
GRCh38/hg38 19p13.3(chr19:1228275-1282856)x3	copy number gain	See cases [RCV000134604]	Chr19:1228275..1282856 [GRCh38] Chr19:1228274..1282855 [GRCh37] Chr19:1179274..1233855 [NCBI36] Chr19:19p13.3	benign
GRCh38/hg38 19p13.3(chr19:421537-2897921)x3	copy number gain	See cases [RCV000134894]	Chr19:421537..2897921 [GRCh38] Chr19:421537..2897919 [GRCh37] Chr19:372537..2848919 [NCBI36] Chr19:19p13.3	likely pathogenic
GRCh38/hg38 19p13.3(chr19:259395-2068507)x3	copy number gain	See cases [RCV000135433]	Chr19:259395..2068507 [GRCh38] Chr19:259395..2068506 [GRCh37] Chr19:210395..2019506 [NCBI36] Chr19:19p13.3	pathogenic
GRCh38/hg38 19p13.3(chr19:786550-1297500)x1	copy number loss	See cases [RCV000136733]	Chr19:786550..1297500 [GRCh38] Chr19:786550..1297499 [GRCh37] Chr19:737550..1248499 [NCBI36] Chr19:19p13.3	pathogenic
GRCh38/hg38 19p13.3(chr19:1144297-1211700)x3	copy number gain	See cases [RCV000138017]	Chr19:1144297..1211700 [GRCh38] Chr19:1144296..1211699 [GRCh37] Chr19:1095296..1162699 [NCBI36] Chr19:19p13.3	uncertain significance
GRCh38/hg38 19p13.3(chr19:275925-1892276)x3	copy number gain	See cases [RCV000141358]	Chr19:275925..1892276 [GRCh38] Chr19:275925..1892275 [GRCh37] Chr19:226925..1843275 [NCBI36] Chr19:19p13.3	pathogenic
GRCh38/hg38 19p13.3(chr19:259395-6795611)x3	copy number gain	See cases [RCV000142627]	Chr19:259395..6795611 [GRCh38] Chr19:259395..6795622 [GRCh37] Chr19:210395..6746622 [NCBI36] Chr19:19p13.3	pathogenic
NM_000455.4(STK11):c.908T>G (p.Ile303Ser)	single nucleotide variant	Peutz-Jeghers syndrome [RCV002514964]\|not provided [RCV000153993]	Chr19:1221994 [GRCh38] Chr19:1221993 [GRCh37] Chr19:19p13.3	likely pathogenic\|uncertain significance
NM_000455.5(STK11):c.921-2A>T	single nucleotide variant	not provided [RCV000153994]	Chr19:1222983 [GRCh38] Chr19:1222982 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.134_145del (p.Leu45_Tyr49delinsHis)	deletion	Hereditary cancer-predisposing syndrome [RCV000160967]	Chr19:1207047..1207058 [GRCh38] Chr19:1207046..1207057 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.218_230del (p.Cys73fs)	deletion	Hereditary cancer-predisposing syndrome [RCV000160968]	Chr19:1207129..1207141 [GRCh38] Chr19:1207128..1207140 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.357C>T (p.Asn119=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000160969]\|Peutz-Jeghers syndrome [RCV000195629]\|not provided [RCV000590217]\|not specified [RCV000213010]	Chr19:1218483 [GRCh38] Chr19:1218482 [GRCh37] Chr19:19p13.3	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance\|conflicting data from submitters
NM_000455.5(STK11):c.374+11C>T	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000579611]\|Malignant tumor of breast [RCV001356999]\|Peutz-Jeghers syndrome [RCV000403191]\|not provided [RCV000679317]\|not specified [RCV000160970]	Chr19:1218511 [GRCh38] Chr19:1218510 [GRCh37] Chr19:19p13.3	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_000455.5(STK11):c.464+20del	deletion	Hereditary cancer-predisposing syndrome [RCV000160971]\|Peutz-Jeghers syndrome [RCV000410927]\|not specified [RCV000679318]	Chr19:1219430 [GRCh38] Chr19:1219429 [GRCh37] Chr19:19p13.3	benign\|likely benign
NM_000455.5(STK11):c.579C>T (p.Ser193=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000160972]\|Peutz-Jeghers syndrome [RCV001082620]\|STK11-related condition [RCV003945256]\|not provided [RCV000725212]\|not specified [RCV000213013]	Chr19:1220487 [GRCh38] Chr19:1220486 [GRCh37] Chr19:19p13.3	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance\|conflicting data from submitters
NM_000455.5(STK11):c.597+14del	deletion	Breast and/or ovarian cancer [RCV003149982]\|Hereditary cancer-predisposing syndrome [RCV000160973]\|Malignant tumor of breast [RCV001356292]\|Peutz-Jeghers syndrome [RCV000352916]\|not provided [RCV000679321]\|not specified [RCV002465540]	Chr19:1220519 [GRCh38] Chr19:1220518 [GRCh37] Chr19:19p13.3	benign\|likely benign\|conflicting interpretations of pathogenicity
NM_000455.5(STK11):c.615G>A (p.Ala205=)	single nucleotide variant	Hereditary breast ovarian cancer syndrome [RCV001731149]\|Hereditary cancer-predisposing syndrome [RCV000160974]\|Peutz-Jeghers syndrome [RCV000229020]\|not provided [RCV000759355]\|not specified [RCV000213016]	Chr19:1220598 [GRCh38] Chr19:1220597 [GRCh37] Chr19:19p13.3	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance\|conflicting data from submitters
NM_000455.5(STK11):c.696C>T (p.Ser232=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000566220]\|Peutz-Jeghers syndrome [RCV000204709]\|not specified [RCV000160975]	Chr19:1220679 [GRCh38] Chr19:1220678 [GRCh37] Chr19:19p13.3	benign\|likely benign
NM_000455.5(STK11):c.734+19dup	duplication	Hereditary cancer-predisposing syndrome [RCV000580235]\|Peutz-Jeghers syndrome [RCV000410039]\|not specified [RCV000160976]	Chr19:1220729..1220730 [GRCh38] Chr19:1220728..1220729 [GRCh37] Chr19:19p13.3	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_000455.5(STK11):c.795G>A (p.Glu265=)	single nucleotide variant	Breast and/or ovarian cancer [RCV003492659]\|Familial ovarian cancer [RCV001358138]\|Hereditary cancer-predisposing syndrome [RCV000160977]\|Peutz-Jeghers syndrome [RCV000204976]\|not provided [RCV000679324]\|not specified [RCV000213019]	Chr19:1221273 [GRCh38] Chr19:1221272 [GRCh37] Chr19:19p13.3	benign\|likely benign\|conflicting interpretations of pathogenicity\|conflicting data from submitters
NM_000455.5(STK11):c.876C>T (p.Tyr292=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000160978]\|Peutz-Jeghers syndrome [RCV000196327]\|not provided [RCV002510800]\|not specified [RCV000213022]	Chr19:1221962 [GRCh38] Chr19:1221961 [GRCh37] Chr19:19p13.3	benign\|likely benign\|conflicting interpretations of pathogenicity\|conflicting data from submitters
NM_000455.5(STK11):c.900C>T (p.Ile300=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000160979]\|Peutz-Jeghers syndrome [RCV001085913]\|not provided [RCV000586525]\|not specified [RCV000213025]	Chr19:1221986 [GRCh38] Chr19:1221985 [GRCh37] Chr19:19p13.3	benign\|likely benign\|conflicting interpretations of pathogenicity\|conflicting data from submitters
NM_000455.5(STK11):c.920+6C>T	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000582092]\|Peutz-Jeghers syndrome [RCV000205864]\|STK11-related condition [RCV003917552]\|not provided [RCV001356709]\|not specified [RCV000160980]	Chr19:1222012 [GRCh38] Chr19:1222011 [GRCh37] Chr19:19p13.3	benign\|likely benign\|conflicting interpretations of pathogenicity
NM_000455.5(STK11):c.984C>G (p.Thr328=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000160982]\|Peutz-Jeghers syndrome [RCV000200545]\|not specified [RCV000213029]	Chr19:1223048 [GRCh38] Chr19:1223047 [GRCh37] Chr19:19p13.3	benign\|likely benign\|conflicting interpretations of pathogenicity\|conflicting data from submitters
NM_000455.5(STK11):c.1257C>T (p.Ser419=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000160983]\|Peutz-Jeghers syndrome [RCV001083993]\|STK11-related condition [RCV003952801]\|not provided [RCV000589957]\|not specified [RCV000213040]	Chr19:1226602 [GRCh38] Chr19:1226601 [GRCh37] Chr19:19p13.3	benign\|likely benign\|conflicting interpretations of pathogenicity\|conflicting data from submitters
NM_000455.5(STK11):c.*16+12C>T	single nucleotide variant	not specified [RCV000160984]	Chr19:1226675 [GRCh38] Chr19:1226674 [GRCh37] Chr19:19p13.3	benign\|likely benign
NM_000455.5(STK11):c.*17-8C>T	single nucleotide variant	not specified [RCV000160985]	Chr19:1227585 [GRCh38] Chr19:1227584 [GRCh37] Chr19:19p13.3	benign
NM_000455.5(STK11):c.*22dup	duplication	Hereditary cancer-predisposing syndrome [RCV000160986]	Chr19:1227597..1227598 [GRCh38] Chr19:1227596..1227597 [GRCh37] Chr19:19p13.3	benign
NM_000455.5(STK11):c.*29A>G	single nucleotide variant	not specified [RCV000160987]	Chr19:1227605 [GRCh38] Chr19:1227604 [GRCh37] Chr19:19p13.3	benign
NM_000455.5(STK11):c.396C>A (p.Cys132Ter)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000492214]	Chr19:1219345 [GRCh38] Chr19:1219344 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.409C>T (p.Gln137Ter)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000492356]	Chr19:1219358 [GRCh38] Chr19:1219357 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.464+1G>T	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002334752]\|Peutz-Jeghers syndrome [RCV001904587]	Chr19:1219414 [GRCh38] Chr19:1219413 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.487G>C (p.Gly163Arg)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000492450]	Chr19:1220395 [GRCh38] Chr19:1220394 [GRCh37] Chr19:19p13.3	pathogenic\|likely pathogenic
NM_000455.4(STK11):c.543C>A (p.Asn181Lys)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000160992]	Chr19:1220451 [GRCh38] Chr19:1220450 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.4(STK11):c.545T>C (p.Leu182Pro)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000160993]	Chr19:1220453 [GRCh38] Chr19:1220452 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.4(STK11):c.716G>C (p.Trp239Ser)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000160994]	Chr19:1220699 [GRCh38] Chr19:1220698 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.719C>G (p.Ser240Trp)	single nucleotide variant	Carcinoma of pancreas [RCV000763422]\|Hereditary cancer-predisposing syndrome [RCV000160995]\|Peutz-Jeghers syndrome [RCV001041130]	Chr19:1220702 [GRCh38] Chr19:1220701 [GRCh37] Chr19:19p13.3	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance
NM_000455.5(STK11):c.752G>A (p.Gly251Asp)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002388689]\|Peutz-Jeghers syndrome [RCV001842270]	Chr19:1221230 [GRCh38] Chr19:1221229 [GRCh37] Chr19:19p13.3	likely pathogenic\|uncertain significance
NM_000455.4(STK11):c.889A>G (p.Arg297Gly)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000160997]	Chr19:1221975 [GRCh38] Chr19:1221974 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.310A>G (p.Arg104Gly)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000569641]\|Peutz-Jeghers syndrome [RCV000233314]\|STK11-related condition [RCV003895077]\|not provided [RCV000160999]	Chr19:1218436 [GRCh38] Chr19:1218435 [GRCh37] Chr19:19p13.3	likely benign\|uncertain significance
NM_000455.5(STK11):c.397G>A (p.Val133Met)	single nucleotide variant	Hepatoblastoma [RCV000761133]\|Hereditary cancer-predisposing syndrome [RCV000575310]\|Peutz-Jeghers syndrome [RCV000411610]\|not provided [RCV000161000]\|not specified [RCV000781888]	Chr19:1219346 [GRCh38] Chr19:1219345 [GRCh37] Chr19:19p13.3	conflicting interpretations of pathogenicity\|uncertain significance
NM_000455.5(STK11):c.526G>A (p.Asp176Asn)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002345554]\|Peutz-Jeghers syndrome [RCV000429467]\|not provided [RCV000760083]	Chr19:1220434 [GRCh38] Chr19:1220433 [GRCh37] Chr19:19p13.3	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity
NM_000455.5(STK11):c.604C>T (p.His202Tyr)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000775653]\|Peutz-Jeghers syndrome [RCV000557615]\|not provided [RCV000161002]	Chr19:1220587 [GRCh38] Chr19:1220586 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.613G>A (p.Ala205Thr)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000161003]\|Melanoma, cutaneous malignant, susceptibility to, 1 [RCV003462107]\|Peutz-Jeghers syndrome [RCV000200492]\|not provided [RCV000760084]\|not specified [RCV000200996]	Chr19:1220596 [GRCh38] Chr19:1220595 [GRCh37] Chr19:19p13.3	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance\|conflicting data from submitters
NM_000455.5(STK11):c.632G>A (p.Arg211Gln)	single nucleotide variant	Breast and/or ovarian cancer [RCV003149983]\|Carcinoma of pancreas [RCV000765432]\|Hereditary cancer-predisposing syndrome [RCV000161004]\|Peutz-Jeghers syndrome [RCV000196911]\|not provided [RCV000235214]\|not specified [RCV000781892]	Chr19:1220615 [GRCh38] Chr19:1220614 [GRCh37] Chr19:19p13.3	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_000455.4(STK11):c.862+2T>G	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000161006]	Chr19:1221342 [GRCh38] Chr19:1221341 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.891G>T (p.Arg297Ser)	single nucleotide variant	Peutz-Jeghers syndrome [RCV001062236]	Chr19:1221977 [GRCh38] Chr19:1221976 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.402_403del (p.Cys134fs)	microsatellite	Hereditary cancer-predisposing syndrome [RCV000161008]\|Peutz-Jeghers syndrome [RCV000703819]	Chr19:1219346..1219347 [GRCh38] Chr19:1219345..1219346 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.151A>C (p.Met51Leu)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000579540]\|Melanoma, cutaneous malignant, susceptibility to, 1 [RCV003467272]\|Peutz-Jeghers syndrome [RCV000470806]\|not provided [RCV000161009]	Chr19:1207064 [GRCh38] Chr19:1207063 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.937C>T (p.His313Tyr)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001181036]\|Peutz-Jeghers syndrome [RCV000226358]\|not provided [RCV000161010]	Chr19:1223001 [GRCh38] Chr19:1223000 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.950A>C (p.Glu317Ala)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000574139]\|Peutz-Jeghers syndrome [RCV000701488]\|not provided [RCV000161011]	Chr19:1223014 [GRCh38] Chr19:1223013 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.275A>G (p.Glu92Gly)	single nucleotide variant	not provided [RCV000161012]	Chr19:1207188 [GRCh38] Chr19:1207187 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1148G>A (p.Arg383His)	single nucleotide variant	Carcinoma of pancreas [RCV001197815]\|Generalized juvenile polyposis/juvenile polyposis coli [RCV001356849]\|Hereditary cancer-predisposing syndrome [RCV000161013]\|Peutz-Jeghers syndrome [RCV000204343]\|not provided [RCV000235216]\|not specified [RCV001804887]	Chr19:1226493 [GRCh38] Chr19:1226492 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1252T>A (p.Cys418Ser)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000564627]\|Peutz-Jeghers syndrome [RCV000699445]\|not provided [RCV000161014]	Chr19:1226597 [GRCh38] Chr19:1226596 [GRCh37] Chr19:19p13.3	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_000455.5(STK11):c.1274G>A (p.Arg425His)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000161015]\|Peutz-Jeghers syndrome [RCV000195803]\|not provided [RCV000213041]	Chr19:1226619 [GRCh38] Chr19:1226618 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.-1C>T	single nucleotide variant	Breast and/or ovarian cancer [RCV003491893]\|Hereditary cancer-predisposing syndrome [RCV000164494]\|Peutz-Jeghers syndrome [RCV001808438]\|not provided [RCV000986036]\|not specified [RCV000431625]	Chr19:1206913 [GRCh38] Chr19:1206912 [GRCh37] Chr19:19p13.3	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_000455.5(STK11):c.972G>A (p.Pro324=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000164564]\|Peutz-Jeghers syndrome [RCV000538505]\|not provided [RCV001551036]\|not specified [RCV000781889]	Chr19:1223036 [GRCh38] Chr19:1223035 [GRCh37] Chr19:19p13.3	benign\|likely benign
NM_000455.5(STK11):c.409C>A (p.Gln137Lys)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000164582]\|Peutz-Jeghers syndrome [RCV001808439]	Chr19:1219358 [GRCh38] Chr19:1219357 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.921-3C>T	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000164651]\|Peutz-Jeghers syndrome [RCV001323621]	Chr19:1222982 [GRCh38] Chr19:1222981 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.318G>A (p.Arg106=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000164751]\|Peutz-Jeghers syndrome [RCV000409358]	Chr19:1218444 [GRCh38] Chr19:1218443 [GRCh37] Chr19:19p13.3	benign\|likely benign
NM_000455.5(STK11):c.582C>A (p.Asp194Glu)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000164794]\|Neoplasm of the pancreas [RCV002243832]\|Peutz-Jeghers syndrome [RCV001850304]\|not provided [RCV000582180]	Chr19:1220490 [GRCh38] Chr19:1220489 [GRCh37] Chr19:19p13.3	likely pathogenic
NM_000455.5(STK11):c.100G>T (p.Val34Phe)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000164824]	Chr19:1207013 [GRCh38] Chr19:1207012 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.537G>A (p.Pro179=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000166943]\|Peutz-Jeghers syndrome [RCV000473066]\|not provided [RCV003477633]\|not specified [RCV000441806]	Chr19:1220445 [GRCh38] Chr19:1220444 [GRCh37] Chr19:19p13.3	benign\|likely benign\|conflicting interpretations of pathogenicity
NM_000455.5(STK11):c.899del (p.Ile300fs)	deletion	Hereditary cancer-predisposing syndrome [RCV000167017]	Chr19:1221985 [GRCh38] Chr19:1221984 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.334C>G (p.Gln112Glu)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000165050]\|Peutz-Jeghers syndrome [RCV000457693]	Chr19:1218460 [GRCh38] Chr19:1218459 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.41A>G (p.Glu14Gly)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000165124]\|Peutz-Jeghers syndrome [RCV000632805]\|not provided [RCV003231348]	Chr19:1206954 [GRCh38] Chr19:1206953 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1081A>G (p.Ile361Val)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000165171]\|Peutz-Jeghers syndrome [RCV003507260]	Chr19:1223145 [GRCh38] Chr19:1223144 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1167C>G (p.Ala389=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000165173]\|Peutz-Jeghers syndrome [RCV000558075]\|not provided [RCV000756724]	Chr19:1226512 [GRCh38] Chr19:1226511 [GRCh37] Chr19:19p13.3	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_000455.5(STK11):c.1164G>A (p.Lys388=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000165174]\|Peutz-Jeghers syndrome [RCV001087785]\|not specified [RCV000437245]	Chr19:1226509 [GRCh38] Chr19:1226508 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.943C>T (p.Pro315Ser)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000165240]\|Peutz-Jeghers syndrome [RCV001367387]	Chr19:1223007 [GRCh38] Chr19:1223006 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.536C>T (p.Pro179Leu)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000165287]\|Peutz-Jeghers syndrome [RCV001062846]	Chr19:1220444 [GRCh38] Chr19:1220443 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1020C>T (p.Tyr340=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000165294]\|Peutz-Jeghers syndrome [RCV001474786]\|not specified [RCV000439591]	Chr19:1223084 [GRCh38] Chr19:1223083 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.666C>T (p.Pro222=)	single nucleotide variant	Breast and/or ovarian cancer [RCV003149986]\|Hereditary cancer-predisposing syndrome [RCV000162395]\|Malignant tumor of breast [RCV001356479]\|Peutz-Jeghers syndrome [RCV000228328]\|not provided [RCV001704153]\|not specified [RCV000423666]	Chr19:1220649 [GRCh38] Chr19:1220648 [GRCh37] Chr19:19p13.3	benign\|likely benign\|conflicting interpretations of pathogenicity
NM_000455.5(STK11):c.648C>T (p.Ser216=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000162592]\|Peutz-Jeghers syndrome [RCV000234584]\|not provided [RCV001697057]\|not specified [RCV000420049]	Chr19:1220631 [GRCh38] Chr19:1220630 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.910C>T (p.Arg304Trp)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001183047]\|Inborn genetic diseases [RCV000162596]\|Peutz-Jeghers syndrome [RCV000435642]\|not provided [RCV000256082]	Chr19:1221996 [GRCh38] Chr19:1221995 [GRCh37] Chr19:19p13.3	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity
NM_000455.5(STK11):c.408G>A (p.Met136Ile)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000165401]\|Peutz-Jeghers syndrome [RCV002517622]	Chr19:1219357 [GRCh38] Chr19:1219356 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1101G>A (p.Thr367=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000165442]\|Malignant tumor of breast [RCV001358488]\|Peutz-Jeghers syndrome [RCV001086413]\|not provided [RCV000828437]\|not specified [RCV001800491]	Chr19:1223165 [GRCh38] Chr19:1223164 [GRCh37] Chr19:19p13.3	benign\|likely benign
NM_000455.5(STK11):c.432G>A (p.Pro144=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000162629]\|Peutz-Jeghers syndrome [RCV000196071]\|STK11-related condition [RCV003895085]\|not provided [RCV001711432]\|not specified [RCV000431105]	Chr19:1219381 [GRCh38] Chr19:1219380 [GRCh37] Chr19:19p13.3	benign\|likely benign
NM_000455.5(STK11):c.846C>G (p.Leu282=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000162636]\|Peutz-Jeghers syndrome [RCV000544248]\|STK11-related condition [RCV003895086]\|not provided [RCV001200419]\|not specified [RCV002265638]	Chr19:1221324 [GRCh38] Chr19:1221323 [GRCh37] Chr19:19p13.3	likely benign\|conflicting interpretations of pathogenicity
NM_000455.5(STK11):c.777C>T (p.Asn259=)	single nucleotide variant	Breast and/or ovarian cancer [RCV003492663]\|Hereditary cancer-predisposing syndrome [RCV000162671]\|Peutz-Jeghers syndrome [RCV000205472]\|not provided [RCV000679323]	Chr19:1221255 [GRCh38] Chr19:1221254 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.426C>T (p.Ser142=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000162753]\|Peutz-Jeghers syndrome [RCV000990128]\|not provided [RCV000588667]\|not specified [RCV002465542]	Chr19:1219375 [GRCh38] Chr19:1219374 [GRCh37] Chr19:19p13.3	benign\|likely benign
NM_000455.5(STK11):c.1108G>A (p.Gly370Arg)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000165481]\|Melanoma, cutaneous malignant, susceptibility to, 1 [RCV003468745]\|Peutz-Jeghers syndrome [RCV000199120]	Chr19:1223172 [GRCh38] Chr19:1223171 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1044C>T (p.Asp348=)	single nucleotide variant	Breast and/or ovarian cancer [RCV003491899]\|Hereditary cancer-predisposing syndrome [RCV000165486]\|Peutz-Jeghers syndrome [RCV000200651]\|STK11-related condition [RCV003927550]\|not provided [RCV001535424]\|not specified [RCV000421041]	Chr19:1223108 [GRCh38] Chr19:1223107 [GRCh37] Chr19:19p13.3	likely pathogenic\|likely benign\|conflicting interpretations of pathogenicity
NM_000455.5(STK11):c.1170G>A (p.Val390=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000162794]\|Peutz-Jeghers syndrome [RCV001402009]	Chr19:1226515 [GRCh38] Chr19:1226514 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.246G>A (p.Lys82=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000163044]\|Peutz-Jeghers syndrome [RCV001493576]\|not provided [RCV001697119]	Chr19:1207159 [GRCh38] Chr19:1207158 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.219C>T (p.Cys73=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000163064]\|Peutz-Jeghers syndrome [RCV001441926]	Chr19:1207132 [GRCh38] Chr19:1207131 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.1035C>T (p.His345=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000163094]\|Malignant tumor of breast [RCV001354948]\|Peutz-Jeghers syndrome [RCV000229278]\|STK11-related condition [RCV003895093]\|not provided [RCV000858709]	Chr19:1223099 [GRCh38] Chr19:1223098 [GRCh37] Chr19:19p13.3	benign\|likely benign
NM_000455.5(STK11):c.1249G>A (p.Ala417Thr)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000163101]\|Peutz-Jeghers syndrome [RCV001808434]	Chr19:1226594 [GRCh38] Chr19:1226593 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.630C>T (p.Cys210=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000163102]\|Peutz-Jeghers syndrome [RCV001465916]	Chr19:1220613 [GRCh38] Chr19:1220612 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.594C>T (p.Ala198=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000163103]\|Peutz-Jeghers syndrome [RCV000205659]\|STK11-related condition [RCV003945261]\|not provided [RCV000858927]\|not specified [RCV001255568]	Chr19:1220502 [GRCh38] Chr19:1220501 [GRCh37] Chr19:19p13.3	benign\|likely benign
NM_000455.5(STK11):c.1276C>T (p.Arg426Trp)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000163116]\|Peutz-Jeghers syndrome [RCV000168123]\|not provided [RCV002298489]\|not specified [RCV001194241]	Chr19:1226621 [GRCh38] Chr19:1226620 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.897C>T (p.Ser299=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000163117]\|Peutz-Jeghers syndrome [RCV000229807]\|not provided [RCV001594861]	Chr19:1221983 [GRCh38] Chr19:1221982 [GRCh37] Chr19:19p13.3	benign\|likely benign
NM_000455.5(STK11):c.621C>T (p.Asp207=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000163122]\|Malignant tumor of breast [RCV001356654]\|Peutz-Jeghers syndrome [RCV000230661]\|STK11-related condition [RCV003982911]\|not provided [RCV000759356]	Chr19:1220604 [GRCh38] Chr19:1220603 [GRCh37] Chr19:19p13.3	benign\|likely benign
NM_000455.5(STK11):c.609G>A (p.Pro203=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000163138]\|Peutz-Jeghers syndrome [RCV000937831]	Chr19:1220592 [GRCh38] Chr19:1220591 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.1038C>T (p.Gly346=)	single nucleotide variant	Breast and/or ovarian cancer [RCV001798570]\|Hereditary cancer [RCV003492670]\|Hereditary cancer-predisposing syndrome [RCV000163139]\|Peutz-Jeghers syndrome [RCV000198223]\|STK11-related condition [RCV003407603]\|not provided [RCV001800476]\|not specified [RCV000427198]	Chr19:1223102 [GRCh38] Chr19:1223101 [GRCh37] Chr19:19p13.3	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_000455.5(STK11):c.1284G>A (p.Ser428=)	single nucleotide variant	Breast and/or ovarian cancer [RCV001798571]\|Hereditary cancer-predisposing syndrome [RCV000163145]\|Peutz-Jeghers syndrome [RCV000205545]\|STK11-related condition [RCV003952817]\|not specified [RCV000437311]	Chr19:1226629 [GRCh38] Chr19:1226628 [GRCh37] Chr19:19p13.3	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_000455.5(STK11):c.617C>T (p.Ala206Val)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000163146]\|Peutz-Jeghers syndrome [RCV000412198]\|not provided [RCV000478878]\|not specified [RCV002247563]	Chr19:1220600 [GRCh38] Chr19:1220599 [GRCh37] Chr19:19p13.3	conflicting interpretations of pathogenicity\|uncertain significance
NM_000455.5(STK11):c.45C>T (p.Gly15=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000163147]\|Peutz-Jeghers syndrome [RCV000632813]	Chr19:1206958 [GRCh38] Chr19:1206957 [GRCh37] Chr19:19p13.3	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_000455.5(STK11):c.612C>T (p.Phe204=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000163160]\|Peutz-Jeghers syndrome [RCV001079704]\|not provided [RCV000477993]	Chr19:1220595 [GRCh38] Chr19:1220594 [GRCh37] Chr19:19p13.3	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_000455.5(STK11):c.1266C>T (p.Ser422=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000163161]\|Peutz-Jeghers syndrome [RCV000545789]	Chr19:1226611 [GRCh38] Chr19:1226610 [GRCh37] Chr19:19p13.3	likely benign\|uncertain significance
NM_000455.5(STK11):c.1180G>A (p.Gly394Ser)	single nucleotide variant	Carcinoma of pancreas [RCV002485009]\|Embryonal rhabdomyosarcoma [RCV000761079]\|Hereditary cancer-predisposing syndrome [RCV000163162]\|Peutz-Jeghers syndrome [RCV000168138]\|not provided [RCV001808435]\|not specified [RCV001264531]	Chr19:1226525 [GRCh38] Chr19:1226524 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1259C>T (p.Ala420Val)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000163163]\|Peutz-Jeghers syndrome [RCV000476379]\|not provided [RCV000760076]	Chr19:1226604 [GRCh38] Chr19:1226603 [GRCh37] Chr19:19p13.3	conflicting interpretations of pathogenicity\|uncertain significance
NM_000455.5(STK11):c.720G>A (p.Ser240=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000163194]\|Peutz-Jeghers syndrome [RCV000196370]\|not provided [RCV003477588]\|not specified [RCV000439077]	Chr19:1220703 [GRCh38] Chr19:1220702 [GRCh37] Chr19:19p13.3	likely benign\|conflicting interpretations of pathogenicity
NM_000455.5(STK11):c.1218G>A (p.Ala406=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000163205]\|Peutz-Jeghers syndrome [RCV000206638]	Chr19:1226563 [GRCh38] Chr19:1226562 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.1287C>T (p.Ala429=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000163231]\|Peutz-Jeghers syndrome [RCV000978984]	Chr19:1226632 [GRCh38] Chr19:1226631 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.396C>T (p.Cys132=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000163260]\|Peutz-Jeghers syndrome [RCV000204600]\|not specified [RCV000434058]	Chr19:1219345 [GRCh38] Chr19:1219344 [GRCh37] Chr19:19p13.3	likely benign\|conflicting interpretations of pathogenicity
NM_000455.5(STK11):c.618G>T (p.Ala206=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000163331]\|Peutz-Jeghers syndrome [RCV000535125]\|not provided [RCV001721042]	Chr19:1220601 [GRCh38] Chr19:1220600 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.651G>A (p.Pro217=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000163335]\|Peutz-Jeghers syndrome [RCV000199595]\|not specified [RCV000434357]	Chr19:1220634 [GRCh38] Chr19:1220633 [GRCh37] Chr19:19p13.3	benign\|likely benign
NM_000455.5(STK11):c.1235A>G (p.Asn412Ser)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000163337]\|Melanoma, cutaneous malignant, susceptibility to, 1 [RCV003462119]\|Peutz-Jeghers syndrome [RCV000539118]\|not provided [RCV001731410]	Chr19:1226580 [GRCh38] Chr19:1226579 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.225G>A (p.Arg75=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000167387]\|Peutz-Jeghers syndrome [RCV000933877]	Chr19:1207138 [GRCh38] Chr19:1207137 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.1015C>G (p.Pro339Ala)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000165885]\|Peutz-Jeghers syndrome [RCV000534169]\|not specified [RCV000781886]	Chr19:1223079 [GRCh38] Chr19:1223078 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.237C>T (p.Ile79=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000163362]\|Peutz-Jeghers syndrome [RCV000412380]\|not provided [RCV000858747]\|not specified [RCV000430082]	Chr19:1207150 [GRCh38] Chr19:1207149 [GRCh37] Chr19:19p13.3	benign\|likely benign
NM_000455.5(STK11):c.1254C>T (p.Cys418=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000163367]	Chr19:1226599 [GRCh38] Chr19:1226598 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.1239T>A (p.Pro413=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000163394]\|Peutz-Jeghers syndrome [RCV002516449]	Chr19:1226584 [GRCh38] Chr19:1226583 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.1299G>A (p.Gln433=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000163395]\|Peutz-Jeghers syndrome [RCV001480528]	Chr19:1226644 [GRCh38] Chr19:1226643 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.636C>T (p.Thr212=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000163398]	Chr19:1220619 [GRCh38] Chr19:1220618 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.1142G>C (p.Gly381Ala)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000163414]\|Peutz-Jeghers syndrome [RCV000811562]\|not provided [RCV000587411]\|not specified [RCV003230423]	Chr19:1226487 [GRCh38] Chr19:1226486 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.678C>T (p.Asn226=)	single nucleotide variant	Bile duct cancer [RCV001357469]\|Hereditary cancer-predisposing syndrome [RCV000163416]\|Peutz-Jeghers syndrome [RCV000411450]\|not provided [RCV001704165]\|not specified [RCV002228570]	Chr19:1220661 [GRCh38] Chr19:1220660 [GRCh37] Chr19:19p13.3	benign\|likely benign
NM_000455.5(STK11):c.564C>T (p.Gly188=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000163432]\|Peutz-Jeghers syndrome [RCV000807723]	Chr19:1220472 [GRCh38] Chr19:1220471 [GRCh37] Chr19:19p13.3	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_000455.5(STK11):c.468C>T (p.Tyr156=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000163447]\|Peutz-Jeghers syndrome [RCV001398375]	Chr19:1220376 [GRCh38] Chr19:1220375 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.366G>A (p.Lys122=)	single nucleotide variant	Breast and/or ovarian cancer [RCV003492677]\|Hereditary cancer-predisposing syndrome [RCV000163508]\|Peutz-Jeghers syndrome [RCV000197169]\|not provided [RCV001706074]\|not specified [RCV001582641]	Chr19:1218492 [GRCh38] Chr19:1218491 [GRCh37] Chr19:19p13.3	benign\|likely benign
NM_000455.5(STK11):c.1128G>A (p.Glu376=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000163509]\|Peutz-Jeghers syndrome [RCV001080266]\|not provided [RCV000759353]\|not specified [RCV003398833]	Chr19:1226473 [GRCh38] Chr19:1226472 [GRCh37] Chr19:19p13.3	benign\|likely benign
NM_000455.5(STK11):c.117C>G (p.Arg39=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000167460]\|Peutz-Jeghers syndrome [RCV003765048]	Chr19:1207030 [GRCh38] Chr19:1207029 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.609G>C (p.Pro203=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000165969]\|Peutz-Jeghers syndrome [RCV000458692]\|STK11-related condition [RCV003937513]\|not specified [RCV002228755]	Chr19:1220592 [GRCh38] Chr19:1220591 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.207G>T (p.Ser69=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000165993]\|Peutz-Jeghers syndrome [RCV001403815]\|not specified [RCV000610317]	Chr19:1207120 [GRCh38] Chr19:1207119 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.57G>C (p.Ser19=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000163525]\|Peutz-Jeghers syndrome [RCV000461063]\|STK11-related condition [RCV003907506]\|not provided [RCV001675646]	Chr19:1206970 [GRCh38] Chr19:1206969 [GRCh37] Chr19:19p13.3	benign\|likely benign
NM_000455.5(STK11):c.631C>T (p.Arg211Trp)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000163543]\|Peutz-Jeghers syndrome [RCV000204629]\|not provided [RCV001539393]\|not specified [RCV003387780]	Chr19:1220614 [GRCh38] Chr19:1220613 [GRCh37] Chr19:19p13.3	conflicting interpretations of pathogenicity\|uncertain significance
NM_000455.5(STK11):c.*1G>A	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000163544]	Chr19:1226648 [GRCh38] Chr19:1226647 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.828C>T (p.Gly276=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000163546]\|Peutz-Jeghers syndrome [RCV000198830]\|STK11-related condition [RCV003907508]\|not provided [RCV001284361]\|not specified [RCV001818367]	Chr19:1221306 [GRCh38] Chr19:1221305 [GRCh37] Chr19:19p13.3	pathogenic\|benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_000455.5(STK11):c.1056C>T (p.Asp352=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000163584]\|Peutz-Jeghers syndrome [RCV000206154]\|not provided [RCV003477595]	Chr19:1223120 [GRCh38] Chr19:1223119 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.462C>T (p.His154=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000163587]\|Malignant tumor of breast [RCV001356112]\|Peutz-Jeghers syndrome [RCV000463525]\|not specified [RCV002267905]	Chr19:1219411 [GRCh38] Chr19:1219410 [GRCh37] Chr19:19p13.3	likely benign\|uncertain significance
NM_000455.5(STK11):c.1050C>T (p.Asp350=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000163620]\|Peutz-Jeghers syndrome [RCV000541935]\|STK11-related condition [RCV003965197]\|not provided [RCV001532363]\|not specified [RCV001818369]	Chr19:1223114 [GRCh38] Chr19:1223113 [GRCh37] Chr19:19p13.3	benign\|likely benign
NM_000455.5(STK11):c.-5C>T	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000166177]	Chr19:1206909 [GRCh38] Chr19:1206908 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.771G>A (p.Gly257=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000163741]\|Peutz-Jeghers syndrome [RCV000459224]\|not provided [RCV003477599]\|not specified [RCV000436633]	Chr19:1221249 [GRCh38] Chr19:1221248 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.1152G>T (p.Arg384=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000163744]\|Peutz-Jeghers syndrome [RCV002053952]	Chr19:1226497 [GRCh38] Chr19:1226496 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.15C>T (p.Asp5=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000163753]\|Peutz-Jeghers syndrome [RCV000538130]\|not specified [RCV000590092]	Chr19:1206928 [GRCh38] Chr19:1206927 [GRCh37] Chr19:19p13.3	likely benign\|uncertain significance
NM_000455.5(STK11):c.1137C>T (p.His379=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000163771]\|Peutz-Jeghers syndrome [RCV000409810]\|STK11-related condition [RCV003975232]	Chr19:1226482 [GRCh38] Chr19:1226481 [GRCh37] Chr19:19p13.3	benign\|likely benign
NM_000455.5(STK11):c.627C>T (p.Thr209=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000163776]\|Peutz-Jeghers syndrome [RCV002053954]	Chr19:1220610 [GRCh38] Chr19:1220609 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.453C>T (p.Cys151=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000163777]\|not specified [RCV000444696]	Chr19:1219402 [GRCh38] Chr19:1219401 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.1200G>A (p.Leu400=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000163785]\|Peutz-Jeghers syndrome [RCV001084282]\|STK11-related condition [RCV003945279]\|not provided [RCV000206290]\|not specified [RCV003479033]	Chr19:1226545 [GRCh38] Chr19:1226544 [GRCh37] Chr19:19p13.3	benign\|likely benign
NM_000455.5(STK11):c.1276C>A (p.Arg426=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000163914]\|Peutz-Jeghers syndrome [RCV001500157]	Chr19:1226621 [GRCh38] Chr19:1226620 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.1231C>G (p.Pro411Ala)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000166856]\|Peutz-Jeghers syndrome [RCV000476238]\|not provided [RCV000986035]	Chr19:1226576 [GRCh38] Chr19:1226575 [GRCh37] Chr19:19p13.3	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_000455.5(STK11):c.1290C>T (p.Cys430=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000163674]\|Peutz-Jeghers syndrome [RCV001850289]	Chr19:1226635 [GRCh38] Chr19:1226634 [GRCh37] Chr19:19p13.3	likely benign\|uncertain significance
NM_000455.5(STK11):c.441T>C (p.Arg147=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000163682]\|Peutz-Jeghers syndrome [RCV001499204]\|not specified [RCV000613634]	Chr19:1219390 [GRCh38] Chr19:1219389 [GRCh37] Chr19:19p13.3	likely benign\|conflicting interpretations of pathogenicity
NM_000455.5(STK11):c.765C>T (p.Phe255=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000163717]\|Malignant tumor of breast [RCV001357154]\|Peutz-Jeghers syndrome [RCV000465289]\|STK11-related condition [RCV003895112]\|not provided [RCV001538194]\|not specified [RCV002281977]	Chr19:1221243 [GRCh38] Chr19:1221242 [GRCh37] Chr19:19p13.3	benign\|likely benign
NM_000455.5(STK11):c.681C>T (p.Gly227=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000163733]	Chr19:1220664 [GRCh38] Chr19:1220663 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.756G>A (p.Leu252=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000163848]\|Peutz-Jeghers syndrome [RCV000632846]\|not specified [RCV002271433]	Chr19:1221234 [GRCh38] Chr19:1221233 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.1284G>C (p.Ser428=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000163891]\|Malignant neoplasm of brain [RCV001354357]\|Malignant tumor of breast [RCV001356667]\|Peutz-Jeghers syndrome [RCV000197355]	Chr19:1226629 [GRCh38] Chr19:1226628 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.1193C>T (p.Ala398Val)	single nucleotide variant	Breast carcinoma [RCV001262270]\|Hereditary cancer-predisposing syndrome [RCV000163934]\|Peutz-Jeghers syndrome [RCV000234273]\|not provided [RCV000657114]\|not specified [RCV000486365]	Chr19:1226538 [GRCh38] Chr19:1226537 [GRCh37] Chr19:19p13.3	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_000455.5(STK11):c.116G>T (p.Arg39Leu)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000166477]\|Peutz-Jeghers syndrome [RCV000204326]\|not provided [RCV000222577]\|not specified [RCV000780767]	Chr19:1207029 [GRCh38] Chr19:1207028 [GRCh37] Chr19:19p13.3	pathogenic\|uncertain significance
NM_000455.5(STK11):c.1041G>A (p.Ala347=)	single nucleotide variant	Carcinoma of colon [RCV001358350]\|Hereditary cancer-predisposing syndrome [RCV000163988]\|Peutz-Jeghers syndrome [RCV000233264]\|STK11-related condition [RCV003937503]\|not provided [RCV000587275]\|not specified [RCV000220705]	Chr19:1223105 [GRCh38] Chr19:1223104 [GRCh37] Chr19:19p13.3	benign\|likely benign\|uncertain significance
NM_000455.5(STK11):c.976C>A (p.Pro326Thr)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000163989]\|Malignant tumor of breast [RCV001358183]\|Melanoma, cutaneous malignant, susceptibility to, 1 [RCV003467283]\|Peutz-Jeghers syndrome [RCV000553557]\|not provided [RCV000766875]\|not specified [RCV000217261]	Chr19:1223040 [GRCh38] Chr19:1223039 [GRCh37] Chr19:19p13.3	conflicting interpretations of pathogenicity\|uncertain significance
NM_000455.5(STK11):c.471C>T (p.Phe157=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000164017]\|Peutz-Jeghers syndrome [RCV000204056]	Chr19:1220379 [GRCh38] Chr19:1220378 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.708G>A (p.Val236=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000164046]	Chr19:1220691 [GRCh38] Chr19:1220690 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.1062C>T (p.Phe354=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000164163]\|Peutz-Jeghers syndrome [RCV000411636]\|not provided [RCV001706078]	Chr19:1223126 [GRCh38] Chr19:1223125 [GRCh37] Chr19:19p13.3	benign\|likely benign
NM_000455.5(STK11):c.90C>T (p.Asp30=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000164169]\|Peutz-Jeghers syndrome [RCV000472074]\|not specified [RCV000780765]	Chr19:1207003 [GRCh38] Chr19:1207002 [GRCh37] Chr19:19p13.3	likely benign\|uncertain significance
NM_000455.5(STK11):c.936A>G (p.Lys312=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000164181]\|Peutz-Jeghers syndrome [RCV000524609]	Chr19:1223000 [GRCh38] Chr19:1222999 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.1191G>A (p.Ala397=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000164233]\|Peutz-Jeghers syndrome [RCV000205549]\|not provided [RCV001800482]\|not specified [RCV000615441]	Chr19:1226536 [GRCh38] Chr19:1226535 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.100G>A (p.Val34Ile)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000164249]	Chr19:1207013 [GRCh38] Chr19:1207012 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.828C>A (p.Gly276=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000166750]\|Peutz-Jeghers syndrome [RCV001505955]	Chr19:1221306 [GRCh38] Chr19:1221305 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.1296G>C (p.Gln432His)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000164281]\|Peutz-Jeghers syndrome [RCV001808437]	Chr19:1226641 [GRCh38] Chr19:1226640 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.990C>G (p.Asp330Glu)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000164292]\|Peutz-Jeghers syndrome [RCV001071149]	Chr19:1223054 [GRCh38] Chr19:1223053 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.279C>G (p.Ala93=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000164346]\|Peutz-Jeghers syndrome [RCV000474163]\|not provided [RCV001668322]\|not specified [RCV001553662]	Chr19:1207192 [GRCh38] Chr19:1207191 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.842C>G (p.Pro281Arg)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000164375]\|Melanoma, cutaneous malignant, susceptibility to, 1 [RCV003467293]\|Peutz-Jeghers syndrome [RCV000228218]	Chr19:1221320 [GRCh38] Chr19:1221319 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1213A>T (p.Arg405Trp)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000164388]\|Melanoma, cutaneous malignant, susceptibility to, 1 [RCV003467295]\|Peutz-Jeghers syndrome [RCV001054751]	Chr19:1226558 [GRCh38] Chr19:1226557 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.597+1G>T	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000492737]\|Peutz-Jeghers syndrome [RCV000700997]\|not provided [RCV000254989]	Chr19:1220506 [GRCh38] Chr19:1220505 [GRCh37] Chr19:19p13.3	pathogenic\|likely pathogenic
NM_000455.5(STK11):c.580G>A (p.Asp194Asn)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000492479]\|Lung adenocarcinoma [RCV000427095]\|Neoplasm [RCV000445048]\|Peutz-Jeghers syndrome [RCV000168375]\|not provided [RCV000708629]	Chr19:1220488 [GRCh38] Chr19:1220487 [GRCh37] Chr19:19p13.3	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity
NM_000455.5(STK11):c.1069G>A (p.Glu357Lys)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000563889]\|Peutz-Jeghers syndrome [RCV000465950]\|not provided [RCV000657031]\|not specified [RCV000780766]	Chr19:1223133 [GRCh38] Chr19:1223132 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.863-1G>A	single nucleotide variant	Peutz-Jeghers syndrome [RCV000196256]	Chr19:1221948 [GRCh38] Chr19:1221947 [GRCh37] Chr19:19p13.3	likely pathogenic
NM_000455.5(STK11):c.597+9G>A	single nucleotide variant	Peutz-Jeghers syndrome [RCV000196573]\|not specified [RCV000419999]	Chr19:1220514 [GRCh38] Chr19:1220513 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.317G>T (p.Arg106Leu)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000583216]\|Peutz-Jeghers syndrome [RCV000196673]	Chr19:1218443 [GRCh38] Chr19:1218442 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.464+8C>T	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000582726]\|Peutz-Jeghers syndrome [RCV000196711]\|STK11-related condition [RCV003947660]\|not provided [RCV001682913]\|not specified [RCV000506144]	Chr19:1219421 [GRCh38] Chr19:1219420 [GRCh37] Chr19:19p13.3	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_000455.5(STK11):c.921-8G>A	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000580046]\|Malignant tumor of breast [RCV001356901]\|Peutz-Jeghers syndrome [RCV000196801]\|not provided [RCV001706184]\|not specified [RCV003321540]	Chr19:1222977 [GRCh38] Chr19:1222976 [GRCh37] Chr19:19p13.3	pathogenic\|benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_000455.5(STK11):c.902G>A (p.Arg301Gln)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000583301]\|Peutz-Jeghers syndrome [RCV000197149]\|not provided [RCV001552011]	Chr19:1221988 [GRCh38] Chr19:1221987 [GRCh37] Chr19:19p13.3	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_000455.5(STK11):c.99G>A (p.Glu33=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000217999]\|Peutz-Jeghers syndrome [RCV000197439]	Chr19:1207012 [GRCh38] Chr19:1207011 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.1167C>T (p.Ala389=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000571821]\|Peutz-Jeghers syndrome [RCV000197449]\|not provided [RCV001610520]	Chr19:1226512 [GRCh38] Chr19:1226511 [GRCh37] Chr19:19p13.3	benign\|likely benign\|uncertain significance
NM_000455.5(STK11):c.1286C>G (p.Ala429Gly)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000574953]\|Peutz-Jeghers syndrome [RCV000197676]\|not provided [RCV000760078]	Chr19:1226631 [GRCh38] Chr19:1226630 [GRCh37] Chr19:19p13.3	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance
NM_000455.5(STK11):c.598-7G>A	single nucleotide variant	Breast and/or ovarian cancer [RCV001798668]\|Endometrial carcinoma [RCV001357691]\|Hereditary cancer-predisposing syndrome [RCV000580069]\|Peutz-Jeghers syndrome [RCV000198089]\|STK11-related condition [RCV003895264]\|not provided [RCV001579937]\|not specified [RCV000507461]	Chr19:1220574 [GRCh38] Chr19:1220573 [GRCh37] Chr19:19p13.3	benign\|likely benign\|uncertain significance
NM_000455.5(STK11):c.1179C>T (p.Asn393=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000775663]\|Peutz-Jeghers syndrome [RCV000198229]\|not specified [RCV001284239]	Chr19:1226524 [GRCh38] Chr19:1226523 [GRCh37] Chr19:19p13.3	benign\|likely benign
NM_000455.5(STK11):c.921-9C>T	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000580751]\|Peutz-Jeghers syndrome [RCV000990132]\|not provided [RCV000679329]\|not specified [RCV000507064]	Chr19:1222976 [GRCh38] Chr19:1222975 [GRCh37] Chr19:19p13.3	likely pathogenic\|likely benign\|uncertain significance
NM_000455.5(STK11):c.717G>A (p.Trp239Ter)	single nucleotide variant	Peutz-Jeghers syndrome [RCV000796535]\|not provided [RCV000399421]	Chr19:1220700 [GRCh38] Chr19:1220699 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.439C>T (p.Arg147Cys)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000573355]\|Peutz-Jeghers syndrome [RCV000198395]\|not provided [RCV001540776]	Chr19:1219388 [GRCh38] Chr19:1219387 [GRCh37] Chr19:19p13.3	conflicting interpretations of pathogenicity\|uncertain significance
NM_000455.5(STK11):c.920+7G>A	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000580582]\|Peutz-Jeghers syndrome [RCV000198532]\|not provided [RCV000589890]\|not specified [RCV000421028]	Chr19:1222013 [GRCh38] Chr19:1222012 [GRCh37] Chr19:19p13.3	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_000455.5(STK11):c.735-9G>A	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000583537]\|Peutz-Jeghers syndrome [RCV000198727]\|not provided [RCV001354422]\|not specified [RCV001284359]	Chr19:1221204 [GRCh38] Chr19:1221203 [GRCh37] Chr19:19p13.3	benign\|likely benign
NM_000455.4(STK11):c.735-9_735-5delGAAAT	deletion	Peutz-Jeghers syndrome [RCV000198804]	Chr19:1221204..1221208 [GRCh38] Chr19:1221203..1221207 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1174A>G (p.Met392Val)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000776534]\|Peutz-Jeghers syndrome [RCV000199162]\|not provided [RCV001778787]	Chr19:1226519 [GRCh38] Chr19:1226518 [GRCh37] Chr19:19p13.3	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_000455.5(STK11):c.42G>A (p.Glu14=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000572557]\|Peutz-Jeghers syndrome [RCV001086731]\|not provided [RCV000760082]\|not specified [RCV002267930]	Chr19:1206955 [GRCh38] Chr19:1206954 [GRCh37] Chr19:19p13.3	benign\|likely benign\|conflicting interpretations of pathogenicity
NM_000455.5(STK11):c.374+9T>A	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001188671]\|Peutz-Jeghers syndrome [RCV000990126]\|STK11-related condition [RCV003907746]\|not provided [RCV001284241]\|not specified [RCV000434543]	Chr19:1218509 [GRCh38] Chr19:1218508 [GRCh37] Chr19:19p13.3	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_000455.5(STK11):c.719C>A (p.Ser240Ter)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002372183]\|Peutz-Jeghers syndrome [RCV000199530]	Chr19:1220702 [GRCh38] Chr19:1220701 [GRCh37] Chr19:19p13.3	pathogenic\|likely pathogenic
NM_000455.5(STK11):c.290+3A>G	single nucleotide variant	Peutz-Jeghers syndrome [RCV000199573]	Chr19:1207206 [GRCh38] Chr19:1207205 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.584T>G (p.Leu195Arg)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001180703]	Chr19:1220492 [GRCh38] Chr19:1220491 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.450G>A (p.Val150=)	single nucleotide variant	Peutz-Jeghers syndrome [RCV000548594]	Chr19:1219399 [GRCh38] Chr19:1219398 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.1031T>C (p.Leu344Pro)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000570906]\|Peutz-Jeghers syndrome [RCV000204257]\|not provided [RCV002277563]	Chr19:1223095 [GRCh38] Chr19:1223094 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.980A>G (p.Asp327Gly)	single nucleotide variant	Peutz-Jeghers syndrome [RCV000204325]	Chr19:1223044 [GRCh38] Chr19:1223043 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1217C>T (p.Ala406Val)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000565860]\|Ovarian cancer [RCV003153487]\|Peutz-Jeghers syndrome [RCV000204370]\|not provided [RCV000222032]\|not specified [RCV001192852]	Chr19:1226562 [GRCh38] Chr19:1226561 [GRCh37] Chr19:19p13.3	benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_000455.5(STK11):c.85A>T (p.Ile29Phe)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003298269]\|Peutz-Jeghers syndrome [RCV000204714]\|not specified [RCV002267943]	Chr19:1206998 [GRCh38] Chr19:1206997 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.291-3C>T	single nucleotide variant	Peutz-Jeghers syndrome [RCV000204979]	Chr19:1218414 [GRCh38] Chr19:1218413 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.363G>A (p.Glu121=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000570726]\|Peutz-Jeghers syndrome [RCV000205084]\|not provided [RCV002286718]	Chr19:1218489 [GRCh38] Chr19:1218488 [GRCh37] Chr19:19p13.3	pathogenic\|likely benign\|uncertain significance
NM_000455.5(STK11):c.1264_1265delinsCC (p.Ser422Pro)	indel	Hereditary cancer-predisposing syndrome [RCV001010643]\|Peutz-Jeghers syndrome [RCV000205435]	Chr19:1226609..1226610 [GRCh38] Chr19:1226608..1226609 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.923G>T (p.Trp308Leu)	single nucleotide variant	Peutz-Jeghers syndrome [RCV000205568]	Chr19:1222987 [GRCh38] Chr19:1222986 [GRCh37] Chr19:19p13.3	likely pathogenic
NM_000455.5(STK11):c.735-3A>G	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002381701]\|Peutz-Jeghers syndrome [RCV001448289]\|not specified [RCV001824682]	Chr19:1221210 [GRCh38] Chr19:1221209 [GRCh37] Chr19:19p13.3	likely benign\|uncertain significance
NM_000455.5(STK11):c.355A>G (p.Asn119Asp)	single nucleotide variant	Breast and/or ovarian cancer [RCV003491952]\|Hereditary cancer-predisposing syndrome [RCV000564055]\|Malignant tumor of breast [RCV001356672]\|Peutz-Jeghers syndrome [RCV000205670]	Chr19:1218481 [GRCh38] Chr19:1218480 [GRCh37] Chr19:19p13.3	conflicting interpretations of pathogenicity\|uncertain significance
NM_000455.5(STK11):c.946G>C (p.Ala316Pro)	single nucleotide variant	Peutz-Jeghers syndrome [RCV000205873]	Chr19:1223010 [GRCh38] Chr19:1223009 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.290+10G>C	single nucleotide variant	Peutz-Jeghers syndrome [RCV000205913]	Chr19:1207213 [GRCh38] Chr19:1207212 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.394del (p.Cys132fs)	deletion	Peutz-Jeghers syndrome [RCV000205945]	Chr19:1219343 [GRCh38] Chr19:1219342 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.1212C>A (p.Ser404=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001010343]\|Peutz-Jeghers syndrome [RCV000205975]	Chr19:1226557 [GRCh38] Chr19:1226556 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.306G>C (p.Leu102=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000221681]\|Peutz-Jeghers syndrome [RCV000205991]\|not provided [RCV003477684]	Chr19:1218432 [GRCh38] Chr19:1218431 [GRCh37] Chr19:19p13.3	likely benign\|uncertain significance
NM_000455.5(STK11):c.1243C>G (p.Arg415Gly)	single nucleotide variant	Carcinoma of pancreas [RCV000765435]\|Hereditary cancer-predisposing syndrome [RCV000561859]\|Melanoma, cutaneous malignant, susceptibility to, 1 [RCV003468946]\|Peutz-Jeghers syndrome [RCV000206057]\|not provided [RCV000759354]	Chr19:1226588 [GRCh38] Chr19:1226587 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.465-7C>T	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001178797]\|Peutz-Jeghers syndrome [RCV000206297]\|not specified [RCV000604216]	Chr19:1220366 [GRCh38] Chr19:1220365 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.312G>C (p.Arg104Ser)	single nucleotide variant	Breast and/or ovarian cancer [RCV003150093]\|Hereditary cancer-predisposing syndrome [RCV000563750]\|Peutz-Jeghers syndrome [RCV000206610]\|not provided [RCV000760081]	Chr19:1218438 [GRCh38] Chr19:1218437 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1109-3C>T	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000564888]\|Peutz-Jeghers syndrome [RCV000203722]\|not provided [RCV001284238]\|not specified [RCV000616401]	Chr19:1226451 [GRCh38] Chr19:1226450 [GRCh37] Chr19:19p13.3	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_000455.5(STK11):c.1230C>T (p.Ala410=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000561290]\|Peutz-Jeghers syndrome [RCV000206855]\|STK11-related condition [RCV003897442]\|not provided [RCV003477680]	Chr19:1226575 [GRCh38] Chr19:1226574 [GRCh37] Chr19:19p13.3	likely benign\|uncertain significance
NM_000455.5(STK11):c.227C>T (p.Ala76Val)	single nucleotide variant	Peutz-Jeghers syndrome [RCV000203924]	Chr19:1207140 [GRCh38] Chr19:1207139 [GRCh37] Chr19:19p13.3	uncertain significance
GRCh37/hg19 19p13.3(chr19:823554-1206859)x3	copy number gain	See cases [RCV000203438]	Chr19:823554..1206859 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.731C>A (p.Thr244Asn)	single nucleotide variant	Peutz-Jeghers syndrome [RCV000550258]	Chr19:1220714 [GRCh38] Chr19:1220713 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.118C>G (p.Arg40Gly)	single nucleotide variant	Peutz-Jeghers syndrome [RCV000551324]	Chr19:1207031 [GRCh38] Chr19:1207030 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1178A>G (p.Asn393Ser)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000771660]\|Melanoma, cutaneous malignant, susceptibility to, 1 [RCV003470730]\|Peutz-Jeghers syndrome [RCV000551124]\|not provided [RCV003228944]	Chr19:1226523 [GRCh38] Chr19:1226522 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.357del (p.Asn119fs)	deletion	Hereditary cancer-predisposing syndrome [RCV000563941]	Chr19:1218483 [GRCh38] Chr19:1218482 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.10G>A (p.Val4Met)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000563171]\|Peutz-Jeghers syndrome [RCV001858141]	Chr19:1206923 [GRCh38] Chr19:1206922 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.827G>A (p.Gly276Asp)	single nucleotide variant	Peutz-Jeghers syndrome [RCV000632818]\|not provided [RCV000221902]	Chr19:1221305 [GRCh38] Chr19:1221304 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.108C>T (p.Tyr36=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000221907]\|Peutz-Jeghers syndrome [RCV000632839]	Chr19:1207021 [GRCh38] Chr19:1207020 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.749C>T (p.Thr250Met)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001184310]\|Multiple endocrine neoplasia, type 1 [RCV003328099]\|Peutz-Jeghers syndrome [RCV001808582]\|not provided [RCV000219622]	Chr19:1221227 [GRCh38] Chr19:1221226 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.291-4C>G	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000222049]	Chr19:1218413 [GRCh38] Chr19:1218412 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.969_971del (p.Pro324del)	deletion	Hereditary cancer-predisposing syndrome [RCV000213140]\|Melanoma, cutaneous malignant, susceptibility to, 1 [RCV003462518]\|Peutz-Jeghers syndrome [RCV001044009]\|not provided [RCV003477758]	Chr19:1223031..1223033 [GRCh38] Chr19:1223030..1223032 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.31A>G (p.Met11Val)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000222194]\|Melanoma, cutaneous malignant, susceptibility to, 1 [RCV003462529]\|Peutz-Jeghers syndrome [RCV000232648]\|not provided [RCV000485960]	Chr19:1206944 [GRCh38] Chr19:1206943 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.920+12C>T	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000579870]\|Peutz-Jeghers syndrome [RCV000990131]\|not specified [RCV000213320]	Chr19:1222018 [GRCh38] Chr19:1222017 [GRCh37] Chr19:19p13.3	benign\|likely benign
NM_000455.5(STK11):c.248A>G (p.Lys83Arg)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000565378]\|Peutz-Jeghers syndrome [RCV000539793]\|not provided [RCV000217408]	Chr19:1207161 [GRCh38] Chr19:1207160 [GRCh37] Chr19:19p13.3	conflicting interpretations of pathogenicity\|uncertain significance
NM_000455.5(STK11):c.33G>T (p.Met11Ile)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000217440]\|Peutz-Jeghers syndrome [RCV001808579]	Chr19:1206946 [GRCh38] Chr19:1206945 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1186G>C (p.Glu396Gln)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000219917]\|Peutz-Jeghers syndrome [RCV000795016]	Chr19:1226531 [GRCh38] Chr19:1226530 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1138A>C (p.Asn380His)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000562214]\|Peutz-Jeghers syndrome [RCV001865730]	Chr19:1226483 [GRCh38] Chr19:1226482 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.920+7_920+8delinsCT	indel	Peutz-Jeghers syndrome [RCV000558641]	Chr19:1222013..1222014 [GRCh38] Chr19:1222012..1222013 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.159C>G (p.Asp53Glu)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000213337]	Chr19:1207072 [GRCh38] Chr19:1207071 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.375-10A>G	single nucleotide variant	not provided [RCV000213409]	Chr19:1219314 [GRCh38] Chr19:1219313 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1144C>A (p.Gln382Lys)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000561835]	Chr19:1226489 [GRCh38] Chr19:1226488 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.*16+5G>A	single nucleotide variant	not specified [RCV000217765]	Chr19:1226668 [GRCh38] Chr19:1226667 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.125G>A (p.Arg42Gln)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001010594]\|Melanoma, cutaneous malignant, susceptibility to, 1 [RCV003469111]\|Peutz-Jeghers syndrome [RCV001297981]\|not provided [RCV000220188]	Chr19:1207038 [GRCh38] Chr19:1207037 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1157T>G (p.Leu386Arg)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000220223]\|Peutz-Jeghers syndrome [RCV000697411]	Chr19:1226502 [GRCh38] Chr19:1226501 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.27G>C (p.Leu9=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000220261]\|Peutz-Jeghers syndrome [RCV000930967]	Chr19:1206940 [GRCh38] Chr19:1206939 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.1024G>C (p.Glu342Gln)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000213831]\|Peutz-Jeghers syndrome [RCV001318426]	Chr19:1223088 [GRCh38] Chr19:1223087 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.509A>G (p.Gln170Arg)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000213876]\|Peutz-Jeghers syndrome [RCV001218721]	Chr19:1220417 [GRCh38] Chr19:1220416 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.4(STK11):c.1261_1262delAGinsCT (p.Ser421Leu)	indel	Hereditary cancer-predisposing syndrome [RCV000220434]\|Tumor predisposition syndrome [RCV000220434]\|Tumor susceptibility linked to germline BAP1 mutations [RCV000220434]	Chr19:1226606..1226607 [GRCh38] Chr19:1226605..1226606 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.537G>T (p.Pro179=)	single nucleotide variant	Breast and/or ovarian cancer [RCV001798713]\|Hereditary cancer-predisposing syndrome [RCV000213934]\|Peutz-Jeghers syndrome [RCV000938462]	Chr19:1220445 [GRCh38] Chr19:1220444 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.1017G>A (p.Pro339=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000215793]\|Peutz-Jeghers syndrome [RCV000632859]\|not provided [RCV000423882]	Chr19:1223081 [GRCh38] Chr19:1223080 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.849T>C (p.Ser283=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000220559]\|Peutz-Jeghers syndrome [RCV000559052]	Chr19:1221327 [GRCh38] Chr19:1221326 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.1175T>C (p.Met392Thr)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000771390]\|Peutz-Jeghers syndrome [RCV000697176]\|not provided [RCV000222367]\|not specified [RCV003479069]	Chr19:1226520 [GRCh38] Chr19:1226519 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.734+12G>A	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000771389]\|Peutz-Jeghers syndrome [RCV002057227]\|not specified [RCV000218317]	Chr19:1220729 [GRCh38] Chr19:1220728 [GRCh37] Chr19:19p13.3	likely benign\|uncertain significance
NM_000455.5(STK11):c.780C>T (p.Ile260=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000222522]\|Peutz-Jeghers syndrome [RCV002057183]	Chr19:1221258 [GRCh38] Chr19:1221257 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.501G>A (p.Leu167=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000214318]	Chr19:1220409 [GRCh38] Chr19:1220408 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.1262_1263del (p.Ser421fs)	deletion	not specified [RCV000215979]	Chr19:1226607..1226608 [GRCh38] Chr19:1226606..1226607 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.30C>A (p.Gly10=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000216217]	Chr19:1206943 [GRCh38] Chr19:1206942 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.1283C>T (p.Ser428Leu)	single nucleotide variant	Breast and/or ovarian cancer [RCV003150130]\|Hereditary cancer-predisposing syndrome [RCV000567419]\|Peutz-Jeghers syndrome [RCV000476552]\|not provided [RCV000218637]	Chr19:1226628 [GRCh38] Chr19:1226627 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.25C>G (p.Leu9Val)	single nucleotide variant	Carcinoma of pancreas [RCV002485442]\|Hereditary cancer-predisposing syndrome [RCV001016064]\|Peutz-Jeghers syndrome [RCV001046088]\|not provided [RCV000221102]	Chr19:1206938 [GRCh38] Chr19:1206937 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1049A>G (p.Asp350Gly)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000222727]\|Peutz-Jeghers syndrome [RCV001857763]	Chr19:1223113 [GRCh38] Chr19:1223112 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1108+580G>T	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000209185]	Chr19:1223752 [GRCh38] Chr19:1223751 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.1089T>C (p.Thr363=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000218734]\|Peutz-Jeghers syndrome [RCV002057182]	Chr19:1223153 [GRCh38] Chr19:1223152 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.1118C>T (p.Pro373Leu)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001017384]\|Peutz-Jeghers syndrome [RCV000815664]\|not provided [RCV000221173]	Chr19:1226463 [GRCh38] Chr19:1226462 [GRCh37] Chr19:19p13.3	conflicting interpretations of pathogenicity\|uncertain significance
NM_000455.5(STK11):c.528C>T (p.Asp176=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000221263]\|Peutz-Jeghers syndrome [RCV000526263]\|not specified [RCV000604527]	Chr19:1220436 [GRCh38] Chr19:1220435 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.882_884del (p.Ala295del)	deletion	Hereditary cancer-predisposing syndrome [RCV000222875]	Chr19:1221967..1221969 [GRCh38] Chr19:1221966..1221968 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.870T>G (p.Leu290=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000222918]\|Peutz-Jeghers syndrome [RCV001408018]	Chr19:1221956 [GRCh38] Chr19:1221955 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.291-2A>G	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000222975]\|Peutz-Jeghers syndrome [RCV000632841]	Chr19:1218415 [GRCh38] Chr19:1218414 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.290+3170C>T	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000209369]	Chr19:1210373 [GRCh38] Chr19:1210372 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.290+486C>T	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000209511]	Chr19:1207689 [GRCh38] Chr19:1207688 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.465-429C>T	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000209811]	Chr19:1219944 [GRCh38] Chr19:1219943 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.608C>G (p.Pro203Arg)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000216539]\|Peutz-Jeghers syndrome [RCV001854699]	Chr19:1220591 [GRCh38] Chr19:1220590 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1150C>T (p.Arg384Trp)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000572898]\|Malignant tumor of breast [RCV001356885]\|Peutz-Jeghers syndrome [RCV000231028]\|STK11-related condition [RCV003407761]\|not provided [RCV000218896]	Chr19:1226495 [GRCh38] Chr19:1226494 [GRCh37] Chr19:19p13.3	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance
NM_000455.5(STK11):c.626C>A (p.Thr209Asn)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000221345]	Chr19:1220609 [GRCh38] Chr19:1220608 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.286A>G (p.Lys96Glu)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000221350]\|Peutz-Jeghers syndrome [RCV001808578]\|not provided [RCV001778804]	Chr19:1207199 [GRCh38] Chr19:1207198 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.115C>T (p.Arg39Cys)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000223060]\|Peutz-Jeghers syndrome [RCV000558704]	Chr19:1207028 [GRCh38] Chr19:1207027 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.791T>A (p.Phe264Tyr)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000223073]\|Peutz-Jeghers syndrome [RCV001125013]	Chr19:1221269 [GRCh38] Chr19:1221268 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1258G>T (p.Ala420Ser)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000223101]\|Peutz-Jeghers syndrome [RCV000663120]\|not provided [RCV000760075]	Chr19:1226603 [GRCh38] Chr19:1226602 [GRCh37] Chr19:19p13.3	conflicting interpretations of pathogenicity\|uncertain significance
NM_000455.4(STK11):c.838_839delCC (p.Pro281Alafs)	deletion	not specified [RCV000221464]	Chr19:1221316..1221317 [GRCh38] Chr19:1221315..1221316 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.734+11C>T	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000771477]\|Peutz-Jeghers syndrome [RCV000410618]\|not provided [RCV001722202]	Chr19:1220728 [GRCh38] Chr19:1220727 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.318G>T (p.Arg106=)	single nucleotide variant	Breast and/or ovarian cancer [RCV003491983]\|Hereditary cancer-predisposing syndrome [RCV000223178]\|Peutz-Jeghers syndrome [RCV000932561]\|not provided [RCV003477753]\|not specified [RCV000611475]	Chr19:1218444 [GRCh38] Chr19:1218443 [GRCh37] Chr19:19p13.3	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_000455.5(STK11):c.599C>A (p.Ala200Glu)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000223237]	Chr19:1220582 [GRCh38] Chr19:1220581 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.4(STK11):c.(?_-1)_920+?del	deletion	Hereditary cancer-predisposing syndrome [RCV000210187]	Chr19:1206913..1222006 [GRCh38] Chr19:1206912..1222005 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.520C>T (p.His174Tyr)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000216862]	Chr19:1220428 [GRCh38] Chr19:1220427 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.290+1_290+7del	deletion	Peutz-Jeghers syndrome [RCV000554906]	Chr19:1207203..1207209 [GRCh38] Chr19:1207202..1207208 [GRCh37] Chr19:19p13.3	likely pathogenic
NM_000455.5(STK11):c.179dup (p.Tyr60Ter)	duplication	Peutz-Jeghers syndrome [RCV001808581]\|not provided [RCV000216923]	Chr19:1207091..1207092 [GRCh38] Chr19:1207090..1207091 [GRCh37] Chr19:19p13.3	pathogenic\|likely pathogenic
NM_000455.5(STK11):c.463G>A (p.Gly155Arg)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000572049]\|Melanoma, cutaneous malignant, susceptibility to, 1 [RCV003463619]\|Peutz-Jeghers syndrome [RCV000705698]\|not provided [RCV000219328]\|not specified [RCV003987458]	Chr19:1219412 [GRCh38] Chr19:1219411 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.214C>T (p.Leu72=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000584197]\|Peutz-Jeghers syndrome [RCV000229408]	Chr19:1207127 [GRCh38] Chr19:1207126 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.94A>G (p.Thr32Ala)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000561474]\|Peutz-Jeghers syndrome [RCV000229700]\|not provided [RCV000479327]\|not specified [RCV003401170]	Chr19:1207007 [GRCh38] Chr19:1207006 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.4(STK11):c.-1115_*16+?del	deletion	Peutz-Jeghers syndrome [RCV000229737]	Chr19:1205799..1226663 [GRCh38] Chr19:1205798..1226662 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.1108+3G>A	single nucleotide variant	Breast and/or ovarian cancer [RCV003491999]\|Hereditary cancer-predisposing syndrome [RCV000561129]\|Peutz-Jeghers syndrome [RCV000230024]\|not provided [RCV001697298]\|not specified [RCV000445130]	Chr19:1223175 [GRCh38] Chr19:1223174 [GRCh37] Chr19:19p13.3	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_000455.5(STK11):c.99G>C (p.Glu33Asp)	single nucleotide variant	Peutz-Jeghers syndrome [RCV000231274]	Chr19:1207012 [GRCh38] Chr19:1207011 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.709G>T (p.Asp237Tyr)	single nucleotide variant	Peutz-Jeghers syndrome [RCV000225068]	Chr19:1220692 [GRCh38] Chr19:1220691 [GRCh37] Chr19:19p13.3	likely pathogenic
NM_000455.5(STK11):c.312G>A (p.Arg104=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000563516]\|Peutz-Jeghers syndrome [RCV001080830]\|STK11-related condition [RCV003947750]\|not provided [RCV000760080]\|not specified [RCV000444526]	Chr19:1218438 [GRCh38] Chr19:1218437 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.330C>T (p.Val110=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002321856]\|Peutz-Jeghers syndrome [RCV000230317]	Chr19:1218456 [GRCh38] Chr19:1218455 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.1277G>C (p.Arg426Pro)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000580436]\|Peutz-Jeghers syndrome [RCV000232291]	Chr19:1226622 [GRCh38] Chr19:1226621 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.963C>T (p.Pro321=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000570981]\|Peutz-Jeghers syndrome [RCV000227394]\|not specified [RCV000425794]	Chr19:1223027 [GRCh38] Chr19:1223026 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.464+8del	deletion	Hereditary cancer-predisposing syndrome [RCV001179584]\|Peutz-Jeghers syndrome [RCV000227440]\|not specified [RCV001420890]	Chr19:1219421 [GRCh38] Chr19:1219420 [GRCh37] Chr19:19p13.3	likely benign\|uncertain significance
NM_000455.5(STK11):c.321C>T (p.His107=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000580294]\|Peutz-Jeghers syndrome [RCV001403193]\|not provided [RCV000227530]	Chr19:1218447 [GRCh38] Chr19:1218446 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.180C>T (p.Tyr60=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001013200]\|Peutz-Jeghers syndrome [RCV000226061]\|not provided [RCV003477793]	Chr19:1207093 [GRCh38] Chr19:1207092 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.1258G>A (p.Ala420Thr)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000569699]\|Peutz-Jeghers syndrome [RCV000226740]\|not provided [RCV000766974]\|not specified [RCV000455443]	Chr19:1226603 [GRCh38] Chr19:1226602 [GRCh37] Chr19:19p13.3	likely pathogenic\|uncertain significance
NM_000455.5(STK11):c.465-8G>A	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001183560]\|Peutz-Jeghers syndrome [RCV000231331]\|not specified [RCV000508005]	Chr19:1220365 [GRCh38] Chr19:1220364 [GRCh37] Chr19:19p13.3	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_000455.5(STK11):c.1008T>C (p.Thr336=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000563230]\|Peutz-Jeghers syndrome [RCV000231458]\|not specified [RCV000436493]	Chr19:1223072 [GRCh38] Chr19:1223071 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.1253G>C (p.Cys418Ser)	single nucleotide variant	Breast and/or ovarian cancer [RCV003492000]\|Hereditary cancer-predisposing syndrome [RCV001184074]\|Peutz-Jeghers syndrome [RCV000231843]\|not provided [RCV001753688]	Chr19:1226598 [GRCh38] Chr19:1226597 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1108+7C>A	single nucleotide variant	Peutz-Jeghers syndrome [RCV001482708]	Chr19:1223179 [GRCh38] Chr19:1223178 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.957A>G (p.Pro319=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001019503]\|Peutz-Jeghers syndrome [RCV000233618]\|not provided [RCV000833672]\|not specified [RCV002469083]	Chr19:1223021 [GRCh38] Chr19:1223020 [GRCh37] Chr19:19p13.3	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_000455.5(STK11):c.1162A>T (p.Lys388Ter)	single nucleotide variant	Peutz-Jeghers syndrome [RCV000233827]	Chr19:1226507 [GRCh38] Chr19:1226506 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.576C>G (p.Ile192Met)	single nucleotide variant	Peutz-Jeghers syndrome [RCV000234124]	Chr19:1220484 [GRCh38] Chr19:1220483 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1245C>T (p.Arg415=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000562946]\|Peutz-Jeghers syndrome [RCV000234173]	Chr19:1226590 [GRCh38] Chr19:1226589 [GRCh37] Chr19:19p13.3	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_000455.5(STK11):c.1129G>C (p.Ala377Pro)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000564880]\|Peutz-Jeghers syndrome [RCV000227141]\|not provided [RCV002288910]	Chr19:1226474 [GRCh38] Chr19:1226473 [GRCh37] Chr19:19p13.3	conflicting interpretations of pathogenicity\|uncertain significance
NM_000455.5(STK11):c.1107C>T (p.Pro369=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000568761]\|Peutz-Jeghers syndrome [RCV000227252]\|not provided [RCV001356163]\|not specified [RCV000610904]	Chr19:1223171 [GRCh38] Chr19:1223170 [GRCh37] Chr19:19p13.3	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_000455.5(STK11):c.1109-15C>T	single nucleotide variant	Peutz-Jeghers syndrome [RCV003617850]\|not specified [RCV000605263]	Chr19:1226439 [GRCh38] Chr19:1226438 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.135C>A (p.Leu45=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002384065]\|Peutz-Jeghers syndrome [RCV000559667]	Chr19:1207048 [GRCh38] Chr19:1207047 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.588C>T (p.Gly196=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000572275]\|Peutz-Jeghers syndrome [RCV000532733]\|not specified [RCV001290518]	Chr19:1220496 [GRCh38] Chr19:1220495 [GRCh37] Chr19:19p13.3	likely benign\|uncertain significance
NM_000455.5(STK11):c.864G>A (p.Gly288=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002375325]\|Peutz-Jeghers syndrome [RCV001453862]\|not provided [RCV001284362]	Chr19:1221950 [GRCh38] Chr19:1221949 [GRCh37] Chr19:19p13.3	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_000455.5(STK11):c.348G>A (p.Val116=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000564843]	Chr19:1218474 [GRCh38] Chr19:1218473 [GRCh37] Chr19:19p13.3	likely benign
GRCh37/hg19 19p13.3(chr19:277373-2555164)x3	copy number gain	See cases [RCV000240507]	Chr19:277373..2555164 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.4(STK11):c.-1115-?_290+?del	deletion	Peutz-Jeghers syndrome [RCV000239810]		pathogenic
NM_000455.5(STK11):c.541A>G (p.Asn181Asp)	single nucleotide variant	Peutz-Jeghers syndrome [RCV000240843]	Chr19:1220449 [GRCh38] Chr19:1220448 [GRCh37] Chr19:19p13.3	likely pathogenic
NC_000019.9:g.(?_852323)_(1207208_?)dup	duplication	Peutz-Jeghers syndrome [RCV000527991]	Chr19:852323..1207208 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.144G>A (p.Lys48=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000564286]	Chr19:1207057 [GRCh38] Chr19:1207056 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.374+24G>T	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002347950]\|Peutz-Jeghers syndrome [RCV001808667]\|Squamous cell lung carcinoma [RCV001250928]\|not provided [RCV001709524]\|not specified [RCV000251123]	Chr19:1218524 [GRCh38] Chr19:1218523 [GRCh37] Chr19:19p13.3	benign\|uncertain significance
NM_000455.5(STK11):c.1143A>G (p.Gly381=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000564746]	Chr19:1226488 [GRCh38] Chr19:1226487 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.375-49G>A	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002347951]\|Peutz-Jeghers syndrome [RCV001808668]\|Squamous cell lung carcinoma [RCV001250929]\|not provided [RCV001696189]\|not specified [RCV000241659]	Chr19:1219275 [GRCh38] Chr19:1219274 [GRCh37] Chr19:19p13.3	benign\|uncertain significance
NM_000455.5(STK11):c.1029C>T (p.Asp343=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000565082]\|Peutz-Jeghers syndrome [RCV000548957]	Chr19:1223093 [GRCh38] Chr19:1223092 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.290+36G>T	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002436080]\|Peutz-Jeghers syndrome [RCV001808666]\|not provided [RCV001682978]\|not specified [RCV000254173]	Chr19:1207239 [GRCh38] Chr19:1207238 [GRCh37] Chr19:19p13.3	benign
NM_000455.5(STK11):c.920+32G>A	single nucleotide variant	Peutz-Jeghers syndrome [RCV000412013]\|not specified [RCV000246987]	Chr19:1222038 [GRCh38] Chr19:1222037 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.464+32CGGGGGC[3]	microsatellite	not provided [RCV001682979]\|not specified [RCV000244817]	Chr19:1219444..1219445 [GRCh38] Chr19:1219443..1219444 [GRCh37] Chr19:19p13.3	benign\|likely benign
NC_000019.10:g.(?_1206908)_(1226652_?)del	deletion	Peutz-Jeghers syndrome [RCV000258043]	Chr19:1206908..1226652 [GRCh38] Chr19:1206907..1226651 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.726G>T (p.Gly242=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000574507]\|Peutz-Jeghers syndrome [RCV000632865]\|not specified [RCV000249987]	Chr19:1220709 [GRCh38] Chr19:1220708 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.915G>A (p.Gln305=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000564387]\|Peutz-Jeghers syndrome [RCV002060412]	Chr19:1222001 [GRCh38] Chr19:1222000 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.1180G>C (p.Gly394Arg)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000565643]\|Peutz-Jeghers syndrome [RCV000536736]	Chr19:1226525 [GRCh38] Chr19:1226524 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.*616T>C	single nucleotide variant	Peutz-Jeghers syndrome [RCV000269880]\|not provided [RCV001643020]	Chr19:1228192 [GRCh38] Chr19:1228191 [GRCh37] Chr19:19p13.3	benign
NM_000455.5(STK11):c.-2G>T	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000492081]\|Peutz-Jeghers syndrome [RCV000288357]\|not provided [RCV000586834]\|not specified [RCV000436151]	Chr19:1206912 [GRCh38] Chr19:1206911 [GRCh37] Chr19:19p13.3	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_000455.5(STK11):c.-461G>A	single nucleotide variant	Peutz-Jeghers syndrome [RCV000272449]	Chr19:1206453 [GRCh38] Chr19:1206452 [GRCh37] Chr19:19p13.3	conflicting interpretations of pathogenicity\|uncertain significance
NM_000455.5(STK11):c.-137C>T	single nucleotide variant	Peutz-Jeghers syndrome [RCV000281035]	Chr19:1206777 [GRCh38] Chr19:1206776 [GRCh37] Chr19:19p13.3	benign\|likely benign
NM_000455.5(STK11):c.-925C>T	single nucleotide variant	Peutz-Jeghers syndrome [RCV000281856]	Chr19:1205989 [GRCh38] Chr19:1205988 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.-274C>T	single nucleotide variant	Peutz-Jeghers syndrome [RCV000360824]	Chr19:1206640 [GRCh38] Chr19:1206639 [GRCh37] Chr19:19p13.3	benign\|likely benign
NM_000455.5(STK11):c.-229C>G	single nucleotide variant	Peutz-Jeghers syndrome [RCV000261386]	Chr19:1206685 [GRCh38] Chr19:1206684 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.-1024C>T	single nucleotide variant	Peutz-Jeghers syndrome [RCV000371780]\|not provided [RCV001594959]	Chr19:1205890 [GRCh38] Chr19:1205889 [GRCh37] Chr19:19p13.3	benign\|likely benign
NM_000455.5(STK11):c.597+21dup	duplication	Breast and/or ovarian cancer [RCV003150162]\|Hereditary cancer-predisposing syndrome [RCV000582653]\|Peutz-Jeghers syndrome [RCV000262969]\|not provided [RCV001712114]\|not specified [RCV001284242]	Chr19:1220519..1220520 [GRCh38] Chr19:1220518..1220519 [GRCh37] Chr19:19p13.3	benign\|likely benign
NM_000455.5(STK11):c.746C>T (p.Thr249Ile)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000775244]\|Peutz-Jeghers syndrome [RCV000273581]\|not provided [RCV001764296]	Chr19:1221224 [GRCh38] Chr19:1221223 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.-193C>G	single nucleotide variant	Peutz-Jeghers syndrome [RCV000375931]	Chr19:1206721 [GRCh38] Chr19:1206720 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.-447C>T	single nucleotide variant	Peutz-Jeghers syndrome [RCV000308737]	Chr19:1206467 [GRCh38] Chr19:1206466 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.-577C>T	single nucleotide variant	Peutz-Jeghers syndrome [RCV000351897]	Chr19:1206337 [GRCh38] Chr19:1206336 [GRCh37] Chr19:19p13.3	benign\|likely benign
NM_000455.5(STK11):c.*678G>A	single nucleotide variant	Peutz-Jeghers syndrome [RCV000327498]	Chr19:1228254 [GRCh38] Chr19:1228253 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.326del (p.Asn109fs)	deletion	Peutz-Jeghers syndrome [RCV002519067]\|not provided [RCV000346053]	Chr19:1218448 [GRCh38] Chr19:1218447 [GRCh37] Chr19:19p13.3	pathogenic
NM_001393918.1(CBARP):c.*846G>A	single nucleotide variant	Peutz-Jeghers syndrome [RCV000264201]	Chr19:1228333 [GRCh38] Chr19:1228332 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.-127T>C	single nucleotide variant	Peutz-Jeghers syndrome [RCV000331333]\|not provided [RCV002510865]	Chr19:1206787 [GRCh38] Chr19:1206786 [GRCh37] Chr19:19p13.3	benign\|likely benign
NM_000455.5(STK11):c.-562G>C	single nucleotide variant	Peutz-Jeghers syndrome [RCV000403889]	Chr19:1206352 [GRCh38] Chr19:1206351 [GRCh37] Chr19:19p13.3	benign\|likely benign
NM_000455.5(STK11):c.-387C>T	single nucleotide variant	Peutz-Jeghers syndrome [RCV000264873]	Chr19:1206527 [GRCh38] Chr19:1206526 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.*317C>G	single nucleotide variant	Peutz-Jeghers syndrome [RCV000355542]	Chr19:1227893 [GRCh38] Chr19:1227892 [GRCh37] Chr19:19p13.3	benign\|uncertain significance
NM_000455.4(STK11):c.*365C>G	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001723914]\|Peutz-Jeghers syndrome [RCV000405526]	Chr19:1227941 [GRCh38] Chr19:1227940 [GRCh37] Chr19:19p13.3	benign\|likely benign
NM_000455.5(STK11):c.-430C>T	single nucleotide variant	Peutz-Jeghers syndrome [RCV000358884]\|not provided [RCV001570482]	Chr19:1206484 [GRCh38] Chr19:1206483 [GRCh37] Chr19:19p13.3	benign\|likely benign
NM_000455.5(STK11):c.*685C>A	single nucleotide variant	Peutz-Jeghers syndrome [RCV000384419]\|not provided [RCV001643021]	Chr19:1228261 [GRCh38] Chr19:1228260 [GRCh37] Chr19:19p13.3	benign\|likely benign
NM_000455.5(STK11):c.*494T>A	single nucleotide variant	Peutz-Jeghers syndrome [RCV000362179]	Chr19:1228070 [GRCh38] Chr19:1228069 [GRCh37] Chr19:19p13.3	benign\|likely benign
NM_000455.5(STK11):c.114G>T (p.Pro38=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000568424]\|Peutz-Jeghers syndrome [RCV001481303]	Chr19:1207027 [GRCh38] Chr19:1207026 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.904C>T (p.Gln302Ter)	single nucleotide variant	not provided [RCV000489355]	Chr19:1221990 [GRCh38] Chr19:1221989 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.116G>A (p.Arg39His)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000564913]\|Peutz-Jeghers syndrome [RCV000796502]	Chr19:1207029 [GRCh38] Chr19:1207028 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.67del (p.Asp23fs)	deletion	Hereditary cancer-predisposing syndrome [RCV000568657]	Chr19:1206979 [GRCh38] Chr19:1206978 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.483_484del	deletion	Peutz-Jeghers syndrome [RCV000314516]	Chr19:1228058..1228059 [GRCh38] Chr19:1228057..1228058 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.-520C>T	single nucleotide variant	Peutz-Jeghers syndrome [RCV000362376]	Chr19:1206394 [GRCh38] Chr19:1206393 [GRCh37] Chr19:19p13.3	uncertain significance
NC_000019.9:g.(?_1219317)_(1221345_?)del	deletion	Peutz-Jeghers syndrome [RCV000549704]	Chr19:1219317..1221345 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.-216A>C	single nucleotide variant	Peutz-Jeghers syndrome [RCV000316627]	Chr19:1206698 [GRCh38] Chr19:1206697 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.8T>G (p.Val3Gly)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000569286]\|Peutz-Jeghers syndrome [RCV000347967]	Chr19:1206921 [GRCh38] Chr19:1206920 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.-107dup	duplication	Peutz-Jeghers syndrome [RCV000386427]	Chr19:1206797..1206798 [GRCh38] Chr19:1206796..1206797 [GRCh37] Chr19:19p13.3	conflicting interpretations of pathogenicity\|uncertain significance
NM_000455.5(STK11):c.-546G>A	single nucleotide variant	Peutz-Jeghers syndrome [RCV000307417]	Chr19:1206368 [GRCh38] Chr19:1206367 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.-1055C>T	single nucleotide variant	Peutz-Jeghers syndrome [RCV000335920]	Chr19:1205859 [GRCh38] Chr19:1205858 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.*388A>G	single nucleotide variant	Peutz-Jeghers syndrome [RCV000368326]	Chr19:1227964 [GRCh38] Chr19:1227963 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.-1098G>A	single nucleotide variant	Peutz-Jeghers syndrome [RCV000285565]	Chr19:1205816 [GRCh38] Chr19:1205815 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.*121A>C	single nucleotide variant	Peutz-Jeghers syndrome [RCV000285621]	Chr19:1227697 [GRCh38] Chr19:1227696 [GRCh37] Chr19:19p13.3	uncertain significance
NM_001393918.1(CBARP):c.757_765del	deletion	Peutz-Jeghers syndrome [RCV000321618]	Chr19:1228414..1228422 [GRCh38] Chr19:1228413..1228421 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.-723G>T	single nucleotide variant	Peutz-Jeghers syndrome [RCV000337019]	Chr19:1206191 [GRCh38] Chr19:1206190 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.-81A>G	single nucleotide variant	Peutz-Jeghers syndrome [RCV000351590]	Chr19:1206833 [GRCh38] Chr19:1206832 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.-55C>T	single nucleotide variant	Peutz-Jeghers syndrome [RCV000407402]	Chr19:1206859 [GRCh38] Chr19:1206858 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.-106C>T	single nucleotide variant	Peutz-Jeghers syndrome [RCV000296808]	Chr19:1206808 [GRCh38] Chr19:1206807 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.*202C>G	single nucleotide variant	Peutz-Jeghers syndrome [RCV000407863]	Chr19:1227778 [GRCh38] Chr19:1227777 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.-635del	deletion	Peutz-Jeghers syndrome [RCV000391066]	Chr19:1206275 [GRCh38] Chr19:1206274 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.390G>A (p.Glu130=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000567528]\|Peutz-Jeghers syndrome [RCV001476196]	Chr19:1219339 [GRCh38] Chr19:1219338 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.*237C>A	single nucleotide variant	Peutz-Jeghers syndrome [RCV000298535]	Chr19:1227813 [GRCh38] Chr19:1227812 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.-587G>C	single nucleotide variant	Peutz-Jeghers syndrome [RCV000311061]	Chr19:1206327 [GRCh38] Chr19:1206326 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.*372C>T	single nucleotide variant	Peutz-Jeghers syndrome [RCV000311279]	Chr19:1227948 [GRCh38] Chr19:1227947 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.358G>A (p.Glu120Lys)	single nucleotide variant	Carcinoma of pancreas [RCV001293888]\|Hereditary cancer-predisposing syndrome [RCV000579450]\|Peutz-Jeghers syndrome [RCV000701376]\|not provided [RCV002509454]\|not specified [RCV002307554]	Chr19:1218484 [GRCh38] Chr19:1218483 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.929G>A (p.Arg310Gln)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000575394]\|Peutz-Jeghers syndrome [RCV000551710]\|not provided [RCV001597160]	Chr19:1222993 [GRCh38] Chr19:1222992 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.583C>T (p.Leu195=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000570130]\|Peutz-Jeghers syndrome [RCV001471933]	Chr19:1220491 [GRCh38] Chr19:1220490 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.399G>A (p.Val133=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000575495]\|Peutz-Jeghers syndrome [RCV000557301]	Chr19:1219348 [GRCh38] Chr19:1219347 [GRCh37] Chr19:19p13.3	likely benign\|conflicting interpretations of pathogenicity
NM_000455.5(STK11):c.458C>T (p.Ala153Val)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000565289]	Chr19:1219407 [GRCh38] Chr19:1219406 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.354C>T (p.Tyr118=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000582051]\|Peutz-Jeghers syndrome [RCV002529284]	Chr19:1218480 [GRCh38] Chr19:1218479 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.464+12G>C	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000582236]\|Peutz-Jeghers syndrome [RCV002061949]	Chr19:1219425 [GRCh38] Chr19:1219424 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.464+9_464+11delinsCCC	indel	Hereditary cancer-predisposing syndrome [RCV000583941]	Chr19:1219422..1219424 [GRCh38] Chr19:1219421..1219423 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.242A>C (p.Lys81Thr)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000565413]\|Peutz-Jeghers syndrome [RCV001217470]	Chr19:1207155 [GRCh38] Chr19:1207154 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.393C>G (p.Tyr131Ter)	single nucleotide variant	not provided [RCV000578968]	Chr19:1219342 [GRCh38] Chr19:1219341 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.107A>G (p.Tyr36Cys)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000567905]\|Peutz-Jeghers syndrome [RCV001775132]	Chr19:1207020 [GRCh38] Chr19:1207019 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1264A>C (p.Ser422Arg)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000579770]\|Peutz-Jeghers syndrome [RCV000632828]	Chr19:1226609 [GRCh38] Chr19:1226608 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.734+11_734+13delinsGG	indel	Hereditary cancer-predisposing syndrome [RCV000582293]	Chr19:1220728..1220730 [GRCh38] Chr19:1220727..1220729 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.464+17delinsCGCACCCGT	indel	Hereditary cancer-predisposing syndrome [RCV000582337]	Chr19:1219430 [GRCh38] Chr19:1219429 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.597+11G>T	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000582355]\|Peutz-Jeghers syndrome [RCV002065118]\|not specified [RCV000616761]	Chr19:1220516 [GRCh38] Chr19:1220515 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.465-17G>A	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000584108]\|Peutz-Jeghers syndrome [RCV001809683]\|not provided [RCV001692215]	Chr19:1220356 [GRCh38] Chr19:1220355 [GRCh37] Chr19:19p13.3	benign\|likely benign
NM_000455.5(STK11):c.862+26A>C	single nucleotide variant	not specified [RCV000584031]	Chr19:1221366 [GRCh38] Chr19:1221365 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.666C>G (p.Pro222=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000584044]\|Peutz-Jeghers syndrome [RCV001463683]\|not provided [RCV000759357]	Chr19:1220649 [GRCh38] Chr19:1220648 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.435G>A (p.Glu145=)	single nucleotide variant	Peutz-Jeghers syndrome [RCV001397782]\|not specified [RCV000588278]	Chr19:1219384 [GRCh38] Chr19:1219383 [GRCh37] Chr19:19p13.3	likely benign\|uncertain significance
NM_000455.5(STK11):c.180del (p.Ser59_Tyr60insTer)	deletion	Hereditary cancer-predisposing syndrome [RCV001178644]\|Peutz-Jeghers syndrome [RCV000813229]\|not provided [RCV000598927]	Chr19:1207093 [GRCh38] Chr19:1207092 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.597+16_597+17insCAC	insertion	Hereditary cancer-predisposing syndrome [RCV000582458]	Chr19:1220521..1220522 [GRCh38] Chr19:1220520..1220521 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.1053G>A (p.Glu351=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000582536]\|Peutz-Jeghers syndrome [RCV002061944]	Chr19:1223117 [GRCh38] Chr19:1223116 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.186G>A (p.Lys62=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000582574]\|Peutz-Jeghers syndrome [RCV001435472]\|not provided [RCV000937393]	Chr19:1207099 [GRCh38] Chr19:1207098 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.498C>T (p.Tyr166=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000584127]	Chr19:1220406 [GRCh38] Chr19:1220405 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.1092G>A (p.Gln364=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000584253]\|Peutz-Jeghers syndrome [RCV002061945]	Chr19:1223156 [GRCh38] Chr19:1223155 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.844C>T (p.Leu282Phe)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000582592]\|Peutz-Jeghers syndrome [RCV001047643]	Chr19:1221322 [GRCh38] Chr19:1221321 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.862+12A>G	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000582618]\|Peutz-Jeghers syndrome [RCV002061955]	Chr19:1221352 [GRCh38] Chr19:1221351 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.1108+11C>T	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000582669]\|Peutz-Jeghers syndrome [RCV001860102]\|not specified [RCV000608930]	Chr19:1223183 [GRCh38] Chr19:1223182 [GRCh37] Chr19:19p13.3	likely benign\|uncertain significance
NM_000455.5(STK11):c.597+21del	deletion	Hereditary cancer-predisposing syndrome [RCV000584370]\|Peutz-Jeghers syndrome [RCV002061952]\|not specified [RCV002268215]	Chr19:1220520 [GRCh38] Chr19:1220519 [GRCh37] Chr19:19p13.3	benign\|likely benign
NM_000455.5(STK11):c.597+17_597+19delinsCACGTGCTA	indel	Hereditary cancer-predisposing syndrome [RCV000584415]	Chr19:1220522..1220524 [GRCh38] Chr19:1220521..1220523 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.863-16G>A	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000584441]\|Peutz-Jeghers syndrome [RCV001809685]\|not provided [RCV001672888]	Chr19:1221933 [GRCh38] Chr19:1221932 [GRCh37] Chr19:19p13.3	benign\|likely benign
NM_000455.5(STK11):c.1109-8C>T	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000584482]\|Peutz-Jeghers syndrome [RCV002061946]	Chr19:1226446 [GRCh38] Chr19:1226445 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.311G>A (p.Arg104Lys)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000580871]	Chr19:1218437 [GRCh38] Chr19:1218436 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.740A>T (p.Asn247Ile)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000580928]\|Peutz-Jeghers syndrome [RCV000694481]	Chr19:1221218 [GRCh38] Chr19:1221217 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.622G>A (p.Asp208Asn)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000580980]\|Melanoma, cutaneous malignant, susceptibility to, 1 [RCV003465295]\|Peutz-Jeghers syndrome [RCV000705268]	Chr19:1220605 [GRCh38] Chr19:1220604 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.33_35del (p.Met11_Phe12delinsIle)	deletion	Hereditary cancer-predisposing syndrome [RCV000581026]	Chr19:1206945..1206947 [GRCh38] Chr19:1206944..1206946 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1267A>G (p.Lys423Glu)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000582770]\|Peutz-Jeghers syndrome [RCV001860103]	Chr19:1226612 [GRCh38] Chr19:1226611 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.464G>A (p.Gly155Glu)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000582858]\|Peutz-Jeghers syndrome [RCV000757931]	Chr19:1219413 [GRCh38] Chr19:1219412 [GRCh37] Chr19:19p13.3	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_000455.5(STK11):c.734+15C>G	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000584522]\|Peutz-Jeghers syndrome [RCV002061953]	Chr19:1220732 [GRCh38] Chr19:1220731 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.337C>G (p.Leu113Val)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000584425]\|Peutz-Jeghers syndrome [RCV001809682]	Chr19:1218463 [GRCh38] Chr19:1218462 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.923G>A (p.Trp308Ter)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000584565]\|Peutz-Jeghers syndrome [RCV001809686]\|not provided [RCV001270017]	Chr19:1222987 [GRCh38] Chr19:1222986 [GRCh37] Chr19:19p13.3	pathogenic\|likely pathogenic
NM_000455.5(STK11):c.734+22del	deletion	Hereditary cancer-predisposing syndrome [RCV000584621]\|Peutz-Jeghers syndrome [RCV002061954]	Chr19:1220737 [GRCh38] Chr19:1220736 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.524A>G (p.Lys175Arg)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002345815]\|Peutz-Jeghers syndrome [RCV000806375]	Chr19:1220432 [GRCh38] Chr19:1220431 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.464+9_464+13inv	inversion	Hereditary cancer-predisposing syndrome [RCV000581154]	Chr19:1219422..1219426 [GRCh38] Chr19:1219421..1219425 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.1135C>A (p.His379Asn)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000581087]\|Peutz-Jeghers syndrome [RCV001224935]\|not specified [RCV001328411]	Chr19:1226480 [GRCh38] Chr19:1226479 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.*16+2T>A	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000581084]	Chr19:1226665 [GRCh38] Chr19:1226664 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.129C>G (p.Ala43=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000581197]\|Peutz-Jeghers syndrome [RCV002530806]\|not provided [RCV000679316]	Chr19:1207042 [GRCh38] Chr19:1207041 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.157G>T (p.Asp53Tyr)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000582919]	Chr19:1207070 [GRCh38] Chr19:1207069 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.734+19C>G	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000582928]	Chr19:1220736 [GRCh38] Chr19:1220735 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.291-11C>T	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000583056]\|Peutz-Jeghers syndrome [RCV002061947]	Chr19:1218406 [GRCh38] Chr19:1218405 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.*12T>G	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000584714]	Chr19:1226659 [GRCh38] Chr19:1226658 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.754C>G (p.Leu252Val)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000581215]	Chr19:1221232 [GRCh38] Chr19:1221231 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.597+14A>G	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000583163]\|Peutz-Jeghers syndrome [RCV002061951]\|not specified [RCV000607891]	Chr19:1220519 [GRCh38] Chr19:1220518 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.527A>C (p.Asp176Ala)	single nucleotide variant	not specified [RCV000581400]	Chr19:1220435 [GRCh38] Chr19:1220434 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.597+19_597+20insCTA	insertion	Hereditary cancer-predisposing syndrome [RCV000581401]	Chr19:1220524..1220525 [GRCh38] Chr19:1220523..1220524 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.165G>A (p.Leu55=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000581344]	Chr19:1207078 [GRCh38] Chr19:1207077 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.837C>G (p.Gly279=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000581348]\|Peutz-Jeghers syndrome [RCV000632867]	Chr19:1221315 [GRCh38] Chr19:1221314 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.862+8C>T	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000583177]\|Peutz-Jeghers syndrome [RCV001489393]	Chr19:1221348 [GRCh38] Chr19:1221347 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.921-18_921-15del	deletion	Hereditary cancer-predisposing syndrome [RCV000583354]\|Peutz-Jeghers syndrome [RCV002065120]\|not specified [RCV000614508]	Chr19:1222966..1222969 [GRCh38] Chr19:1222965..1222968 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.851del (p.Asp284fs)	deletion	Peutz-Jeghers syndrome [RCV000586390]	Chr19:1221329 [GRCh38] Chr19:1221328 [GRCh37] Chr19:19p13.3	likely pathogenic
NM_000455.5(STK11):c.464+11_464+13delinsCGC	indel	Hereditary cancer-predisposing syndrome [RCV000581455]	Chr19:1219424..1219426 [GRCh38] Chr19:1219423..1219425 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.5A>C (p.Glu2Ala)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000581495]\|Melanoma, cutaneous malignant, susceptibility to, 1 [RCV003459450]\|Peutz-Jeghers syndrome [RCV000811637]\|not provided [RCV001764711]	Chr19:1206918 [GRCh38] Chr19:1206917 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.732C>T (p.Thr244=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000583360]\|Peutz-Jeghers syndrome [RCV003507299]	Chr19:1220715 [GRCh38] Chr19:1220714 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.710A>G (p.Asp237Gly)	single nucleotide variant	not specified [RCV000583384]	Chr19:1220693 [GRCh38] Chr19:1220692 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1117C>T (p.Pro373Ser)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000581593]\|Peutz-Jeghers syndrome [RCV001853943]	Chr19:1226462 [GRCh38] Chr19:1226461 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.689C>T (p.Thr230Ile)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000581675]\|Peutz-Jeghers syndrome [RCV000792566]	Chr19:1220672 [GRCh38] Chr19:1220671 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.734+17C>A	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000581710]\|Peutz-Jeghers syndrome [RCV000662414]	Chr19:1220734 [GRCh38] Chr19:1220733 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.465-9T>C	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000581718]\|Peutz-Jeghers syndrome [RCV000632850]	Chr19:1220364 [GRCh38] Chr19:1220363 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.464+20G>T	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000583475]\|Peutz-Jeghers syndrome [RCV002061950]	Chr19:1219433 [GRCh38] Chr19:1219432 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.93C>A (p.Ser31=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000583483]\|Peutz-Jeghers syndrome [RCV001480163]	Chr19:1207006 [GRCh38] Chr19:1207005 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.1005G>A (p.Met335Ile)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000583571]	Chr19:1223069 [GRCh38] Chr19:1223068 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.549G>T (p.Leu183=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000581763]	Chr19:1220457 [GRCh38] Chr19:1220456 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.264C>T (p.Ile88=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000581814]\|Peutz-Jeghers syndrome [RCV000873712]	Chr19:1207177 [GRCh38] Chr19:1207176 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.598-14C>T	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000583412]\|Peutz-Jeghers syndrome [RCV001809684]\|not provided [RCV001619803]	Chr19:1220567 [GRCh38] Chr19:1220566 [GRCh37] Chr19:19p13.3	benign\|likely benign
NM_000455.5(STK11):c.597+17_597+18delinsCACGT	indel	Hereditary cancer-predisposing syndrome [RCV000583609]	Chr19:1220522..1220523 [GRCh38] Chr19:1220521..1220522 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.597+18G>T	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000583708]	Chr19:1220523 [GRCh38] Chr19:1220522 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.1063G>C (p.Asp355His)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000583748]\|Peutz-Jeghers syndrome [RCV001350513]	Chr19:1223127 [GRCh38] Chr19:1223126 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.862+11C>T	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000581893]\|Peutz-Jeghers syndrome [RCV002065119]	Chr19:1221351 [GRCh38] Chr19:1221350 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.862+16C>T	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000581918]\|Peutz-Jeghers syndrome [RCV002061956]	Chr19:1221356 [GRCh38] Chr19:1221355 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.291-17del	deletion	Hereditary cancer-predisposing syndrome [RCV000581955]\|Peutz-Jeghers syndrome [RCV002061948]	Chr19:1218400 [GRCh38] Chr19:1218399 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.464+11_464+12delinsCT	indel	Hereditary cancer-predisposing syndrome [RCV000583769]	Chr19:1219424..1219425 [GRCh38] Chr19:1219423..1219424 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.862+15C>T	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000583848]\|Peutz-Jeghers syndrome [RCV003617845]	Chr19:1221355 [GRCh38] Chr19:1221354 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.1108+7C>T	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000582019]\|Peutz-Jeghers syndrome [RCV001462275]	Chr19:1223179 [GRCh38] Chr19:1223178 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.597+18_597+19delinsTGCTA	indel	Hereditary cancer-predisposing syndrome [RCV000582023]	Chr19:1220523..1220524 [GRCh38] Chr19:1220522..1220523 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.635C>T (p.Thr212Ile)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000581964]\|Peutz-Jeghers syndrome [RCV001326095]	Chr19:1220618 [GRCh38] Chr19:1220617 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.375-5C>T	single nucleotide variant	Peutz-Jeghers syndrome [RCV000409150]	Chr19:1219319 [GRCh38] Chr19:1219318 [GRCh37] Chr19:19p13.3	likely benign\|conflicting interpretations of pathogenicity
NM_000455.5(STK11):c.921-1G>C	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000492537]\|Peutz-Jeghers syndrome [RCV001808786]\|not provided [RCV000414694]	Chr19:1222984 [GRCh38] Chr19:1222983 [GRCh37] Chr19:19p13.3	pathogenic\|likely pathogenic
NM_000455.5(STK11):c.389A>G (p.Glu130Gly)	single nucleotide variant	not provided [RCV000722875]	Chr19:1219338 [GRCh38] Chr19:1219337 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.735-19C>T	single nucleotide variant	Peutz-Jeghers syndrome [RCV000409535]	Chr19:1221194 [GRCh38] Chr19:1221193 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.1213A>G (p.Arg405Gly)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000570180]\|Peutz-Jeghers syndrome [RCV000690183]	Chr19:1226558 [GRCh38] Chr19:1226557 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.290+22C>T	single nucleotide variant	Peutz-Jeghers syndrome [RCV000409847]	Chr19:1207225 [GRCh38] Chr19:1207224 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.920+29G>A	single nucleotide variant	Peutz-Jeghers syndrome [RCV000410712]	Chr19:1222035 [GRCh38] Chr19:1222034 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.1109-13G>A	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000583250]\|Peutz-Jeghers syndrome [RCV000411127]\|not provided [RCV001718802]	Chr19:1226441 [GRCh38] Chr19:1226440 [GRCh37] Chr19:19p13.3	benign\|likely benign
NM_000455.5(STK11):c.862+23C>T	single nucleotide variant	Peutz-Jeghers syndrome [RCV000412118]	Chr19:1221363 [GRCh38] Chr19:1221362 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.853CTG[1] (p.Leu286del)	microsatellite	Periorbital hyperpigmentation [RCV000415408]	Chr19:1221331..1221333 [GRCh38] Chr19:1221330..1221332 [GRCh37] Chr19:19p13.3	likely pathogenic
NM_000455.5(STK11):c.741C>T (p.Asn247=)	single nucleotide variant	Peutz-Jeghers syndrome [RCV000528951]	Chr19:1221219 [GRCh38] Chr19:1221218 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.862+4G>A	single nucleotide variant	Peutz-Jeghers syndrome [RCV000529853]\|not provided [RCV000679325]	Chr19:1221344 [GRCh38] Chr19:1221343 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.44G>A (p.Gly15Asp)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002330840]\|Peutz-Jeghers syndrome [RCV000533697]	Chr19:1206957 [GRCh38] Chr19:1206956 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1162A>G (p.Lys388Glu)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000574766]	Chr19:1226507 [GRCh38] Chr19:1226506 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.836_837delinsCT (p.Gly279Ala)	indel	Hereditary cancer-predisposing syndrome [RCV001017603]\|Peutz-Jeghers syndrome [RCV000411298]\|not provided [RCV000481258]	Chr19:1221314..1221315 [GRCh38] Chr19:1221313..1221314 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.459C>T (p.Ala153=)	single nucleotide variant	Peutz-Jeghers syndrome [RCV000527266]	Chr19:1219408 [GRCh38] Chr19:1219407 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.8TGG[1] (p.Val4del)	microsatellite	Hereditary cancer-predisposing syndrome [RCV001187164]\|Peutz-Jeghers syndrome [RCV000527573]	Chr19:1206919..1206921 [GRCh38] Chr19:1206918..1206920 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.656T>A (p.Phe219Tyr)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000574803]	Chr19:1220639 [GRCh38] Chr19:1220638 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.824C>T (p.Pro275Leu)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000574810]\|Peutz-Jeghers syndrome [RCV000821248]	Chr19:1221302 [GRCh38] Chr19:1221301 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.108C>G (p.Tyr36Ter)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000574820]\|Peutz-Jeghers syndrome [RCV003507297]	Chr19:1207021 [GRCh38] Chr19:1207020 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.554C>T (p.Thr185Ile)	single nucleotide variant	Arthrogryposis, distal, with impaired proprioception and touch [RCV003330088]\|Hereditary cancer-predisposing syndrome [RCV000570682]\|Peutz-Jeghers syndrome [RCV001858351]	Chr19:1220462 [GRCh38] Chr19:1220461 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1281G>A (p.Leu427=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000570686]	Chr19:1226626 [GRCh38] Chr19:1226625 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.533A>C (p.Lys178Thr)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000572383]	Chr19:1220441 [GRCh38] Chr19:1220440 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.96C>T (p.Thr32=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001525442]\|Peutz-Jeghers syndrome [RCV001403232]	Chr19:1207009 [GRCh38] Chr19:1207008 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.1237C>T (p.Pro413Ser)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002367787]\|Peutz-Jeghers syndrome [RCV000531605]	Chr19:1226582 [GRCh38] Chr19:1226581 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.362A>G (p.Glu121Gly)	single nucleotide variant	Peutz-Jeghers syndrome [RCV000532432]	Chr19:1218488 [GRCh38] Chr19:1218487 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.783C>T (p.Tyr261=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000574136]\|Peutz-Jeghers syndrome [RCV001459297]	Chr19:1221261 [GRCh38] Chr19:1221260 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.285G>T (p.Val95=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003159757]\|Peutz-Jeghers syndrome [RCV001479992]	Chr19:1207198 [GRCh38] Chr19:1207197 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.616G>A (p.Ala206Thr)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000574283]\|Peutz-Jeghers syndrome [RCV002298669]	Chr19:1220599 [GRCh38] Chr19:1220598 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.735-6_735-2del	deletion	Hereditary cancer-predisposing syndrome [RCV000579483]\|Peutz-Jeghers syndrome [RCV000412399]\|not provided [RCV001706620]	Chr19:1221204..1221208 [GRCh38] Chr19:1221203..1221207 [GRCh37] Chr19:19p13.3	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_000455.5(STK11):c.920+7_920+8delinsCA	indel	Hereditary cancer-predisposing syndrome [RCV003584591]\|Peutz-Jeghers syndrome [RCV000412453]	Chr19:1222013..1222014 [GRCh38] Chr19:1222012..1222013 [GRCh37] Chr19:19p13.3	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_000455.5(STK11):c.947C>G (p.Ala316Gly)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001019381]\|Peutz-Jeghers syndrome [RCV000539597]\|not provided [RCV001552945]\|not specified [RCV002282206]	Chr19:1223011 [GRCh38] Chr19:1223010 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1233C>A (p.Pro411=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000575038]	Chr19:1226578 [GRCh38] Chr19:1226577 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.735-1G>A	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000492178]\|Peutz-Jeghers syndrome [RCV001380725]\|not provided [RCV000413399]	Chr19:1221212 [GRCh38] Chr19:1221211 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.810G>C (p.Gly270=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000572849]\|Peutz-Jeghers syndrome [RCV000931454]	Chr19:1221288 [GRCh38] Chr19:1221287 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.1216G>T (p.Ala406Ser)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000776236]\|Peutz-Jeghers syndrome [RCV000540360]	Chr19:1226561 [GRCh38] Chr19:1226560 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.790_793del (p.Phe264fs)	deletion	Hereditary cancer-predisposing syndrome [RCV000492099]\|Peutz-Jeghers syndrome [RCV000632833]\|not provided [RCV000414059]	Chr19:1221265..1221268 [GRCh38] Chr19:1221264..1221267 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.863-4T>C	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000569688]\|Peutz-Jeghers syndrome [RCV001500939]\|not provided [RCV003478271]	Chr19:1221945 [GRCh38] Chr19:1221944 [GRCh37] Chr19:19p13.3	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_000455.5(STK11):c.112C>G (p.Pro38Ala)	single nucleotide variant	Breast and/or ovarian cancer [RCV001798875]\|Hereditary cancer-predisposing syndrome [RCV000579877]\|Peutz-Jeghers syndrome [RCV000541391]	Chr19:1207025 [GRCh38] Chr19:1207024 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.534G>A (p.Lys178=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000569873]\|Peutz-Jeghers syndrome [RCV001478009]	Chr19:1220442 [GRCh38] Chr19:1220441 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.663G>T (p.Pro221=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000775654]\|Peutz-Jeghers syndrome [RCV001494800]\|not specified [RCV000420719]	Chr19:1220646 [GRCh38] Chr19:1220645 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.1002C>T (p.Ser334=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002392978]\|Peutz-Jeghers syndrome [RCV000792638]\|not specified [RCV000420777]	Chr19:1223066 [GRCh38] Chr19:1223065 [GRCh37] Chr19:19p13.3	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_000455.5(STK11):c.579C>A (p.Ser193=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000580681]\|Peutz-Jeghers syndrome [RCV001342118]\|not specified [RCV000423615]	Chr19:1220487 [GRCh38] Chr19:1220486 [GRCh37] Chr19:19p13.3	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_000455.5(STK11):c.464+15C>T	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001188606]\|Peutz-Jeghers syndrome [RCV001808811]\|not specified [RCV000427316]	Chr19:1219428 [GRCh38] Chr19:1219427 [GRCh37] Chr19:19p13.3	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_000455.5(STK11):c.1109-15C>A	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000580965]\|Peutz-Jeghers syndrome [RCV002062298]\|not specified [RCV000431066]	Chr19:1226439 [GRCh38] Chr19:1226438 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.647C>T (p.Ser216Phe)	single nucleotide variant	Lung adenocarcinoma [RCV000437743]\|Peutz-Jeghers syndrome [RCV001247942]	Chr19:1220630 [GRCh38] Chr19:1220629 [GRCh37] Chr19:19p13.3	likely pathogenic\|uncertain significance
NM_000455.5(STK11):c.587G>T (p.Gly196Val)	single nucleotide variant	Non-small cell lung carcinoma [RCV000444968]	Chr19:1220495 [GRCh38] Chr19:1220494 [GRCh37] Chr19:19p13.3	likely pathogenic
NM_000455.5(STK11):c.487G>T (p.Gly163Cys)	single nucleotide variant	Squamous cell lung carcinoma [RCV000431280]	Chr19:1220395 [GRCh38] Chr19:1220394 [GRCh37] Chr19:19p13.3	likely pathogenic
NM_000455.5(STK11):c.303A>G (p.Leu101=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000574717]\|Peutz-Jeghers syndrome [RCV000543387]\|not specified [RCV000434453]	Chr19:1218429 [GRCh38] Chr19:1218428 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.-48C>G	single nucleotide variant	not specified [RCV000434561]	Chr19:1206866 [GRCh38] Chr19:1206865 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.863-17C>T	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000580467]\|Peutz-Jeghers syndrome [RCV002062567]\|not specified [RCV000437881]	Chr19:1221932 [GRCh38] Chr19:1221931 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.1108+14G>A	single nucleotide variant	not specified [RCV000441610]	Chr19:1223186 [GRCh38] Chr19:1223185 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.-19C>T	single nucleotide variant	not specified [RCV000441678]	Chr19:1206895 [GRCh38] Chr19:1206894 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.1108+12G>A	single nucleotide variant	Peutz-Jeghers syndrome [RCV001861530]\|not specified [RCV000445321]	Chr19:1223184 [GRCh38] Chr19:1223183 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.711C>G (p.Asp237Glu)	single nucleotide variant	Peutz-Jeghers syndrome [RCV003507276]\|not provided [RCV000444772]	Chr19:1220694 [GRCh38] Chr19:1220693 [GRCh37] Chr19:19p13.3	likely pathogenic\|uncertain significance
NM_000455.5(STK11):c.1032G>A (p.Leu344=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003584600]\|Peutz-Jeghers syndrome [RCV002525410]\|not specified [RCV000424147]	Chr19:1223096 [GRCh38] Chr19:1223095 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.1109-13G>T	single nucleotide variant	Peutz-Jeghers syndrome [RCV002522470]\|not specified [RCV000424168]	Chr19:1226441 [GRCh38] Chr19:1226440 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.109C>T (p.Gln37Ter)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000492327]\|Neoplasm [RCV000424203]\|Peutz-Jeghers syndrome [RCV000553835]	Chr19:1207022 [GRCh38] Chr19:1207021 [GRCh37] Chr19:19p13.3	pathogenic\|likely pathogenic
NM_000455.5(STK11):c.-49A>C	single nucleotide variant	not specified [RCV000427628]	Chr19:1206865 [GRCh38] Chr19:1206864 [GRCh37] Chr19:19p13.3	benign
NM_000455.5(STK11):c.863-14C>T	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000579953]\|Malignant tumor of breast [RCV001355315]\|Peutz-Jeghers syndrome [RCV002061530]\|not specified [RCV000431533]	Chr19:1221935 [GRCh38] Chr19:1221934 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.*18C>G	single nucleotide variant	not specified [RCV000441759]	Chr19:1227594 [GRCh38] Chr19:1227593 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.1108+16G>A	single nucleotide variant	Peutz-Jeghers syndrome [RCV002065080]\|not specified [RCV000441838]	Chr19:1223188 [GRCh38] Chr19:1223187 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.-10T>G	single nucleotide variant	not specified [RCV000442157]	Chr19:1206904 [GRCh38] Chr19:1206903 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.1294C>T (p.Gln432Ter)	single nucleotide variant	Peutz-Jeghers syndrome [RCV000509245]\|not provided [RCV000418374]	Chr19:1226639 [GRCh38] Chr19:1226638 [GRCh37] Chr19:19p13.3	uncertain significance\|not provided
NM_000455.5(STK11):c.290+11C>T	single nucleotide variant	Peutz-Jeghers syndrome [RCV001865335]\|not specified [RCV000424528]	Chr19:1207214 [GRCh38] Chr19:1207213 [GRCh37] Chr19:19p13.3	likely benign\|uncertain significance
NM_000455.5(STK11):c.807G>A (p.Lys269=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002418313]\|Peutz-Jeghers syndrome [RCV001465375]\|not specified [RCV000424657]	Chr19:1221285 [GRCh38] Chr19:1221284 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.291-14C>T	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000583832]\|Peutz-Jeghers syndrome [RCV002064977]\|not specified [RCV000428067]	Chr19:1218403 [GRCh38] Chr19:1218402 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.735-17C>T	single nucleotide variant	Peutz-Jeghers syndrome [RCV002064943]\|not specified [RCV000438703]	Chr19:1221196 [GRCh38] Chr19:1221195 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.530T>A (p.Ile177Asn)	single nucleotide variant	Peutz-Jeghers syndrome [RCV000418761]	Chr19:1220438 [GRCh38] Chr19:1220437 [GRCh37] Chr19:19p13.3	likely pathogenic
NM_000455.5(STK11):c.644G>A (p.Gly215Asp)	single nucleotide variant	Peutz-Jeghers syndrome [RCV000427128]	Chr19:1220627 [GRCh38] Chr19:1220626 [GRCh37] Chr19:19p13.3	likely pathogenic
NM_000455.5(STK11):c.323A>G (p.Lys108Arg)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002323584]\|Peutz-Jeghers syndrome [RCV000434992]	Chr19:1218449 [GRCh38] Chr19:1218448 [GRCh37] Chr19:19p13.3	likely pathogenic\|uncertain significance
NM_000455.5(STK11):c.924G>C (p.Trp308Cys)	single nucleotide variant	Peutz-Jeghers syndrome [RCV000435765]	Chr19:1222988 [GRCh38] Chr19:1222987 [GRCh37] Chr19:19p13.3	likely pathogenic
NM_000455.5(STK11):c.168G>C (p.Gly56=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002402158]\|Peutz-Jeghers syndrome [RCV003617809]\|not specified [RCV000424839]	Chr19:1207081 [GRCh38] Chr19:1207080 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.48G>A (p.Glu16=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001188608]\|Peutz-Jeghers syndrome [RCV000945242]\|not provided [RCV001712300]	Chr19:1206961 [GRCh38] Chr19:1206960 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.*16+8G>A	single nucleotide variant	not specified [RCV000424941]	Chr19:1226671 [GRCh38] Chr19:1226670 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.1140T>C (p.Asn380=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001017439]\|Peutz-Jeghers syndrome [RCV001436137]\|not specified [RCV000428614]	Chr19:1226485 [GRCh38] Chr19:1226484 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.1109-14C>T	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000580471]\|Peutz-Jeghers syndrome [RCV000663190]\|not specified [RCV000442774]	Chr19:1226440 [GRCh38] Chr19:1226439 [GRCh37] Chr19:19p13.3	benign\|likely benign
NM_000455.5(STK11):c.1108+19C>T	single nucleotide variant	Peutz-Jeghers syndrome [RCV002062669]\|not specified [RCV000419175]	Chr19:1223191 [GRCh38] Chr19:1223190 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.837C>T (p.Gly279=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001017652]\|Peutz-Jeghers syndrome [RCV000540568]\|not specified [RCV000421695]	Chr19:1221315 [GRCh38] Chr19:1221314 [GRCh37] Chr19:19p13.3	benign\|likely benign
NM_000455.5(STK11):c.921-4G>A	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002374671]\|not specified [RCV000435822]	Chr19:1222981 [GRCh38] Chr19:1222980 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.766G>T (p.Glu256Ter)	single nucleotide variant	Peutz-Jeghers syndrome [RCV003138001]\|not provided [RCV000423599]	Chr19:1221244 [GRCh38] Chr19:1221243 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.759C>T (p.Tyr253=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000579679]\|Peutz-Jeghers syndrome [RCV001416175]\|not specified [RCV000421885]	Chr19:1221237 [GRCh38] Chr19:1221236 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.414A>G (p.Glu138=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000561912]\|Peutz-Jeghers syndrome [RCV000535758]\|not specified [RCV000425393]	Chr19:1219363 [GRCh38] Chr19:1219362 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.464+11G>C	single nucleotide variant	not specified [RCV000429022]	Chr19:1219424 [GRCh38] Chr19:1219423 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.*16+14G>A	single nucleotide variant	not specified [RCV000429120]	Chr19:1226677 [GRCh38] Chr19:1226676 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.690C>T (p.Thr230=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002374651]\|not specified [RCV000443233]	Chr19:1220673 [GRCh38] Chr19:1220672 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.862+20G>T	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000581006]\|Peutz-Jeghers syndrome [RCV002059721]\|not specified [RCV000443260]	Chr19:1221360 [GRCh38] Chr19:1221359 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.*16+20G>T	single nucleotide variant	not specified [RCV000443261]	Chr19:1226683 [GRCh38] Chr19:1226682 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.734+17C>G	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000580559]\|Peutz-Jeghers syndrome [RCV001808801]\|not specified [RCV000443296]	Chr19:1220734 [GRCh38] Chr19:1220733 [GRCh37] Chr19:19p13.3	benign\|likely benign
NM_000455.5(STK11):c.*11C>T	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000580331]\|not specified [RCV000425589]	Chr19:1226658 [GRCh38] Chr19:1226657 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.996G>A (p.Trp332Ter)	single nucleotide variant	Neoplasm [RCV000425766]	Chr19:1223060 [GRCh38] Chr19:1223059 [GRCh37] Chr19:19p13.3	likely pathogenic
NM_000455.5(STK11):c.738C>T (p.Tyr246=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001026360]\|Peutz-Jeghers syndrome [RCV000632851]\|not provided [RCV001704388]	Chr19:1221216 [GRCh38] Chr19:1221215 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.84C>T (p.Arg28=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000563651]\|Peutz-Jeghers syndrome [RCV000869543]\|not specified [RCV000419797]	Chr19:1206997 [GRCh38] Chr19:1206996 [GRCh37] Chr19:19p13.3	benign\|likely benign
NM_000455.5(STK11):c.*16+16G>C	single nucleotide variant	not specified [RCV000419886]	Chr19:1226679 [GRCh38] Chr19:1226678 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.300A>G (p.Gln100=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001018020]\|Peutz-Jeghers syndrome [RCV000950548]\|not specified [RCV000440027]	Chr19:1218426 [GRCh38] Chr19:1218425 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.291-20C>G	single nucleotide variant	Peutz-Jeghers syndrome [RCV003617807]\|not specified [RCV000420095]	Chr19:1218397 [GRCh38] Chr19:1218396 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.216G>T (p.Leu72=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000567323]\|Peutz-Jeghers syndrome [RCV000471045]\|not provided [RCV001696834]	Chr19:1207129 [GRCh38] Chr19:1207128 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.*17-13T>A	single nucleotide variant	not specified [RCV000426183]	Chr19:1227580 [GRCh38] Chr19:1227579 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.*9G>A	single nucleotide variant	STK11-related condition [RCV003897906]\|not provided [RCV003441854]	Chr19:1226656 [GRCh38] Chr19:1226655 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.595G>T (p.Glu199Ter)	single nucleotide variant	Neoplasm [RCV000436703]	Chr19:1220503 [GRCh38] Chr19:1220502 [GRCh37] Chr19:19p13.3	likely pathogenic
NM_000455.5(STK11):c.863-6C>T	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000580960]\|Peutz-Jeghers syndrome [RCV000456171]\|STK11-related condition [RCV003950368]\|not specified [RCV000443788]	Chr19:1221943 [GRCh38] Chr19:1221942 [GRCh37] Chr19:19p13.3	benign\|likely benign
NM_000455.5(STK11):c.544C>T (p.Leu182=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002348211]\|Peutz-Jeghers syndrome [RCV000530197]\|not provided [RCV001721330]	Chr19:1220452 [GRCh38] Chr19:1220451 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.582C>G (p.Asp194Glu)	single nucleotide variant	Neoplasm of the pancreas [RCV002244864]	Chr19:1220490 [GRCh38] Chr19:1220489 [GRCh37] Chr19:19p13.3	likely pathogenic
NM_000455.5(STK11):c.595G>A (p.Glu199Lys)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001024723]\|Neoplasm [RCV000426356]\|Peutz-Jeghers syndrome [RCV001068577]	Chr19:1220503 [GRCh38] Chr19:1220502 [GRCh37] Chr19:19p13.3	likely pathogenic\|uncertain significance
NM_000455.5(STK11):c.869T>C (p.Leu290Pro)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002374723]\|Peutz-Jeghers syndrome [RCV001362693]\|not provided [RCV000434265]	Chr19:1221955 [GRCh38] Chr19:1221954 [GRCh37] Chr19:19p13.3	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance
NM_000455.5(STK11):c.1060T>C (p.Phe354Leu)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002411286]\|Peutz-Jeghers syndrome [RCV001397182]\|Squamous cell lung carcinoma [RCV000419471]	Chr19:1223124 [GRCh38] Chr19:1223123 [GRCh37] Chr19:19p13.3	likely pathogenic\|likely benign\|uncertain significance
NM_000455.5(STK11):c.290+15C>T	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000579703]\|Peutz-Jeghers syndrome [RCV002061529]\|not specified [RCV000423041]	Chr19:1207218 [GRCh38] Chr19:1207217 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.465-20C>T	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000579993]\|Peutz-Jeghers syndrome [RCV002063370]\|not specified [RCV000426537]	Chr19:1220353 [GRCh38] Chr19:1220352 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.*17-6C>T	single nucleotide variant	not specified [RCV000433615]	Chr19:1227587 [GRCh38] Chr19:1227586 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.*16+7C>T	single nucleotide variant	not specified [RCV000437101]	Chr19:1226670 [GRCh38] Chr19:1226669 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.735-9G>C	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000580189]\|Peutz-Jeghers syndrome [RCV000870435]\|not provided [RCV001703547]	Chr19:1221204 [GRCh38] Chr19:1221203 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.163C>T (p.Leu55=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000771641]\|Peutz-Jeghers syndrome [RCV000548288]\|not provided [RCV001355079]\|not specified [RCV000420325]	Chr19:1207076 [GRCh38] Chr19:1207075 [GRCh37] Chr19:19p13.3	likely benign\|uncertain significance
NM_000455.5(STK11):c.726G>A (p.Gly242=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000569132]\|Peutz-Jeghers syndrome [RCV000632853]\|not specified [RCV000420369]	Chr19:1220709 [GRCh38] Chr19:1220708 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.465-15G>T	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000580528]\|Peutz-Jeghers syndrome [RCV002061610]\|not specified [RCV000423201]	Chr19:1220358 [GRCh38] Chr19:1220357 [GRCh37] Chr19:19p13.3	likely benign\|uncertain significance
NM_000455.5(STK11):c.*17-14C>T	single nucleotide variant	not specified [RCV000426703]	Chr19:1227579 [GRCh38] Chr19:1227578 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.581A>T (p.Asp194Val)	single nucleotide variant	Neoplasm [RCV000437343]	Chr19:1220489 [GRCh38] Chr19:1220488 [GRCh37] Chr19:19p13.3	likely pathogenic
NM_000455.5(STK11):c.*16+18C>T	single nucleotide variant	not specified [RCV000440860]	Chr19:1226681 [GRCh38] Chr19:1226680 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.*16+19C>T	single nucleotide variant	not specified [RCV000420418]	Chr19:1226682 [GRCh38] Chr19:1226681 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.843G>A (p.Pro281=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000775657]\|Peutz-Jeghers syndrome [RCV000874100]\|STK11-related condition [RCV003892130]\|not provided [RCV001720071]	Chr19:1221321 [GRCh38] Chr19:1221320 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.368A>G (p.Gln123Arg)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001525032]\|Peutz-Jeghers syndrome [RCV001861484]\|Squamous cell lung carcinoma [RCV000420556]	Chr19:1218494 [GRCh38] Chr19:1218493 [GRCh37] Chr19:19p13.3	likely pathogenic\|uncertain significance
NM_000455.5(STK11):c.734+19C>T	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000579548]\|Peutz-Jeghers syndrome [RCV002064935]\|STK11-related condition [RCV003922739]\|not specified [RCV000430745]	Chr19:1220736 [GRCh38] Chr19:1220735 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.-11C>T	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000581115]\|not specified [RCV000433985]	Chr19:1206903 [GRCh38] Chr19:1206902 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.267C>T (p.Pro89=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000569221]\|Peutz-Jeghers syndrome [RCV000632871]\|not specified [RCV000437605]	Chr19:1207180 [GRCh38] Chr19:1207179 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.256C>G (p.Arg86Gly)	single nucleotide variant	Squamous cell lung carcinoma [RCV000444791]	Chr19:1207169 [GRCh38] Chr19:1207168 [GRCh37] Chr19:19p13.3	likely pathogenic
NM_000455.5(STK11):c.129del (p.Lys44fs)	deletion	Peutz-Jeghers syndrome [RCV000466541]	Chr19:1207041 [GRCh38] Chr19:1207040 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.105C>A (p.Ile35=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000572661]\|Peutz-Jeghers syndrome [RCV000466546]	Chr19:1207018 [GRCh38] Chr19:1207017 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.1293G>A (p.Lys431=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002383841]\|Peutz-Jeghers syndrome [RCV000470338]	Chr19:1226638 [GRCh38] Chr19:1226637 [GRCh37] Chr19:19p13.3	likely benign\|uncertain significance
NM_000455.5(STK11):c.1087A>G (p.Thr363Ala)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000564324]\|Peutz-Jeghers syndrome [RCV000685209]\|not provided [RCV000479121]	Chr19:1223151 [GRCh38] Chr19:1223150 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1282T>A (p.Ser428Thr)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000567982]\|Melanoma, cutaneous malignant, susceptibility to, 1 [RCV003470542]\|Peutz-Jeghers syndrome [RCV000702071]\|not provided [RCV000479267]\|not specified [RCV001192853]	Chr19:1226627 [GRCh38] Chr19:1226626 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.941C>T (p.Pro314Leu)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001019328]\|Peutz-Jeghers syndrome [RCV001219458]\|not provided [RCV000483299]	Chr19:1223005 [GRCh38] Chr19:1223004 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.407T>C (p.Met136Thr)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000492630]\|Peutz-Jeghers syndrome [RCV000463079]\|not provided [RCV000520340]\|not specified [RCV001199886]	Chr19:1219356 [GRCh38] Chr19:1219355 [GRCh37] Chr19:19p13.3	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance
NM_000455.5(STK11):c.1178A>C (p.Asn393Thr)	single nucleotide variant	Peutz-Jeghers syndrome [RCV000463119]	Chr19:1226523 [GRCh38] Chr19:1226522 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.102C>T (p.Val34=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001009748]\|Peutz-Jeghers syndrome [RCV000474227]	Chr19:1207015 [GRCh38] Chr19:1207014 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.317G>A (p.Arg106Gln)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000573267]\|Peutz-Jeghers syndrome [RCV000796866]\|not provided [RCV000479549]	Chr19:1218443 [GRCh38] Chr19:1218442 [GRCh37] Chr19:19p13.3	conflicting interpretations of pathogenicity\|uncertain significance
NM_000455.5(STK11):c.911G>A (p.Arg304Gln)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000569076]\|Peutz-Jeghers syndrome [RCV000536973]\|STK11-related condition [RCV003409655]\|not provided [RCV000479636]\|not specified [RCV003493594]	Chr19:1221997 [GRCh38] Chr19:1221996 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1045GAGGAC[3] (p.349ED[3])	microsatellite	Hereditary cancer-predisposing syndrome [RCV003168969]\|Malignant tumor of breast [RCV001354484]\|Peutz-Jeghers syndrome [RCV001234124]\|not provided [RCV000483610]	Chr19:1223104..1223105 [GRCh38] Chr19:1223103..1223104 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.7G>A (p.Val3Met)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001178630]\|Melanoma, cutaneous malignant, susceptibility to, 1 [RCV003464003]\|Peutz-Jeghers syndrome [RCV000632816]\|not provided [RCV000483652]	Chr19:1206920 [GRCh38] Chr19:1206919 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.465-10C>G	single nucleotide variant	Breast and/or ovarian cancer [RCV003492063]\|Hereditary cancer-predisposing syndrome [RCV001181771]\|Malignant tumor of breast [RCV001357591]\|Peutz-Jeghers syndrome [RCV000459363]	Chr19:1220363 [GRCh38] Chr19:1220362 [GRCh37] Chr19:19p13.3	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_000455.5(STK11):c.1048G>A (p.Asp350Asn)	single nucleotide variant	Peutz-Jeghers syndrome [RCV000459508]	Chr19:1223112 [GRCh38] Chr19:1223111 [GRCh37] Chr19:19p13.3	uncertain significance
NC_000019.10:g.(?_1221949)_(1222006_?)del	deletion	Peutz-Jeghers syndrome [RCV000463268]	Chr19:1221949..1222006 [GRCh38] Chr19:1221948..1222005 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.234G>A (p.Lys78=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000579512]\|Peutz-Jeghers syndrome [RCV000466957]	Chr19:1207147 [GRCh38] Chr19:1207146 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.1190C>A (p.Ala397Glu)	single nucleotide variant	not provided [RCV000479740]	Chr19:1226535 [GRCh38] Chr19:1226534 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.863-5_863-3del	microsatellite	Hereditary cancer [RCV001537796]\|Hereditary cancer-predisposing syndrome [RCV001018110]\|Peutz-Jeghers syndrome [RCV000704310]\|not provided [RCV000483886]\|not specified [RCV001824797]	Chr19:1221941..1221943 [GRCh38] Chr19:1221940..1221942 [GRCh37] Chr19:19p13.3	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NC_000019.10:g.(?_1218417)_(1223172_?)del	deletion	Peutz-Jeghers syndrome [RCV000467252]	Chr19:1218417..1223172 [GRCh38] Chr19:1218416..1223171 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.375-9G>T	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003584617]\|Peutz-Jeghers syndrome [RCV001460356]\|not provided [RCV003441890]	Chr19:1219315 [GRCh38] Chr19:1219314 [GRCh37] Chr19:19p13.3	likely benign\|uncertain significance
NM_000455.5(STK11):c.935_936del (p.Lys312fs)	deletion	Peutz-Jeghers syndrome [RCV000474608]	Chr19:1222998..1222999 [GRCh38] Chr19:1222997..1222998 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.1112A>T (p.Gln371Leu)	single nucleotide variant	Peutz-Jeghers syndrome [RCV000474669]	Chr19:1226457 [GRCh38] Chr19:1226456 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.527A>G (p.Asp176Gly)	single nucleotide variant	not provided [RCV000482078]	Chr19:1220435 [GRCh38] Chr19:1220434 [GRCh37] Chr19:19p13.3	likely pathogenic
NM_000455.5(STK11):c.630C>A (p.Cys210Ter)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002367637]\|Peutz-Jeghers syndrome [RCV000807012]\|not provided [RCV000482087]	Chr19:1220613 [GRCh38] Chr19:1220612 [GRCh37] Chr19:19p13.3	pathogenic\|likely pathogenic
NM_000455.5(STK11):c.863-14C>G	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001185055]\|Peutz-Jeghers syndrome [RCV001809435]\|not provided [RCV000480152]	Chr19:1221935 [GRCh38] Chr19:1221934 [GRCh37] Chr19:19p13.3	conflicting interpretations of pathogenicity\|uncertain significance
NM_000455.5(STK11):c.735-16_735-15del	deletion	Hereditary cancer-predisposing syndrome [RCV000775655]\|Peutz-Jeghers syndrome [RCV001809436]\|not specified [RCV000480165]	Chr19:1221196..1221197 [GRCh38] Chr19:1221195..1221196 [GRCh37] Chr19:19p13.3	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_000455.5(STK11):c.1142G>A (p.Gly381Glu)	single nucleotide variant	Peutz-Jeghers syndrome [RCV000459961]	Chr19:1226487 [GRCh38] Chr19:1226486 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.43G>A (p.Gly15Ser)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001022426]\|Peutz-Jeghers syndrome [RCV000471272]	Chr19:1206956 [GRCh38] Chr19:1206955 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.842dup (p.Leu282fs)	duplication	Hereditary cancer-predisposing syndrome [RCV000492505]\|Peutz-Jeghers syndrome [RCV000474843]\|not provided [RCV001566266]	Chr19:1221314..1221315 [GRCh38] Chr19:1221313..1221314 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.431C>T (p.Pro144Leu)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001187834]\|Peutz-Jeghers syndrome [RCV000704757]\|not provided [RCV000484471]	Chr19:1219380 [GRCh38] Chr19:1219379 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1261_1262inv (p.Ser421Leu)	inversion	Hereditary cancer-predisposing syndrome [RCV000220434]\|Peutz-Jeghers syndrome [RCV000463989]\|not provided [RCV001653818]	Chr19:1226606..1226607 [GRCh38] Chr19:1226605..1226606 [GRCh37] Chr19:19p13.3	conflicting interpretations of pathogenicity\|uncertain significance
NM_000455.5(STK11):c.1163A>G (p.Lys388Arg)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000569327]\|Peutz-Jeghers syndrome [RCV000543251]\|not provided [RCV000589090]	Chr19:1226508 [GRCh38] Chr19:1226507 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.171A>G (p.Glu57=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002402302]\|Peutz-Jeghers syndrome [RCV000460484]	Chr19:1207084 [GRCh38] Chr19:1207083 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.1205C>G (p.Thr402Ser)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002348256]\|Peutz-Jeghers syndrome [RCV000464100]\|not specified [RCV001420889]	Chr19:1226550 [GRCh38] Chr19:1226549 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1251C>T (p.Ala417=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000566439]\|Peutz-Jeghers syndrome [RCV001079780]\|STK11-related condition [RCV003942500]	Chr19:1226596 [GRCh38] Chr19:1226595 [GRCh37] Chr19:19p13.3	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_000455.5(STK11):c.375-5C>A	single nucleotide variant	Peutz-Jeghers syndrome [RCV000471772]	Chr19:1219319 [GRCh38] Chr19:1219318 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.39G>C (p.Thr13=)	single nucleotide variant	Peutz-Jeghers syndrome [RCV001463473]	Chr19:1206952 [GRCh38] Chr19:1206951 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.1071G>T (p.Glu357Asp)	single nucleotide variant	Familial ovarian cancer [RCV001356730]\|Hereditary cancer-predisposing syndrome [RCV000571538]\|Lip and oral cavity carcinoma [RCV001255638]\|Peutz-Jeghers syndrome [RCV001082664]\|not provided [RCV000833846]\|not specified [RCV002268095]	Chr19:1223135 [GRCh38] Chr19:1223134 [GRCh37] Chr19:19p13.3	pathogenic\|benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_000455.5(STK11):c.827G>T (p.Gly276Val)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000572801]\|Peutz-Jeghers syndrome [RCV000459041]\|not provided [RCV000487182]\|not specified [RCV001260426]	Chr19:1221305 [GRCh38] Chr19:1221304 [GRCh37] Chr19:19p13.3	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_000455.5(STK11):c.125G>T (p.Arg42Leu)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000566963]\|Malignant tumor of breast [RCV001357284]\|Peutz-Jeghers syndrome [RCV000460664]\|not provided [RCV000766867]\|not specified [RCV000483419]	Chr19:1207038 [GRCh38] Chr19:1207037 [GRCh37] Chr19:19p13.3	conflicting interpretations of pathogenicity\|uncertain significance
NM_000455.5(STK11):c.1256C>T (p.Ser419Phe)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001182995]\|Peutz-Jeghers syndrome [RCV000530692]\|not provided [RCV000480918]	Chr19:1226601 [GRCh38] Chr19:1226600 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.875A>G (p.Tyr292Cys)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001181521]\|Peutz-Jeghers syndrome [RCV000457048]	Chr19:1221961 [GRCh38] Chr19:1221960 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1124A>G (p.Glu375Gly)	single nucleotide variant	Peutz-Jeghers syndrome [RCV000464501]	Chr19:1226469 [GRCh38] Chr19:1226468 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.960G>A (p.Val320=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000568437]\|Peutz-Jeghers syndrome [RCV000468211]	Chr19:1223024 [GRCh38] Chr19:1223023 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.299A>G (p.Gln100Arg)	single nucleotide variant	Breast and/or ovarian cancer [RCV001798818]\|Hereditary cancer-predisposing syndrome [RCV000569984]\|Melanoma, cutaneous malignant, susceptibility to, 1 [RCV003463836]\|Peutz-Jeghers syndrome [RCV000468289]\|not specified [RCV001293537]	Chr19:1218425 [GRCh38] Chr19:1218424 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1274G>C (p.Arg425Pro)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002374735]\|Peutz-Jeghers syndrome [RCV000468308]\|not provided [RCV003477938]	Chr19:1226619 [GRCh38] Chr19:1226618 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1075G>A (p.Asp359Asn)	single nucleotide variant	Peutz-Jeghers syndrome [RCV000471819]\|STK11-related condition [RCV003392262]	Chr19:1223139 [GRCh38] Chr19:1223138 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.558C>T (p.Thr186=)	single nucleotide variant	Carcinoma of pancreas [RCV002506136]\|Hereditary cancer-predisposing syndrome [RCV000573277]\|Peutz-Jeghers syndrome [RCV000475672]\|not provided [RCV001707697]\|not specified [RCV000589376]	Chr19:1220466 [GRCh38] Chr19:1220465 [GRCh37] Chr19:19p13.3	benign\|likely benign\|uncertain significance
NM_000455.5(STK11):c.959T>C (p.Val320Ala)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002383924]\|not provided [RCV000485417]	Chr19:1223023 [GRCh38] Chr19:1223022 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.61G>A (p.Gly21Ser)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000776368]\|Melanoma, cutaneous malignant, susceptibility to, 1 [RCV003463991]\|Peutz-Jeghers syndrome [RCV000809834]\|not provided [RCV000485517]	Chr19:1206974 [GRCh38] Chr19:1206973 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.944C>T (p.Pro315Leu)	single nucleotide variant	Breast and/or ovarian cancer [RCV003150213]\|Hereditary cancer-predisposing syndrome [RCV000567303]\|Peutz-Jeghers syndrome [RCV000457133]\|not provided [RCV001284363]\|not specified [RCV001527035]	Chr19:1223008 [GRCh38] Chr19:1223007 [GRCh37] Chr19:19p13.3	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_000455.5(STK11):c.735-10C>T	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000775656]\|Malignant tumor of breast [RCV001354492]\|Peutz-Jeghers syndrome [RCV001087418]\|not provided [RCV000461007]\|not specified [RCV001192855]	Chr19:1221203 [GRCh38] Chr19:1221202 [GRCh37] Chr19:19p13.3	benign\|likely benign
NM_000455.5(STK11):c.1068C>T (p.Ile356=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000568288]\|Peutz-Jeghers syndrome [RCV000476064]\|not provided [RCV001696879]	Chr19:1223132 [GRCh38] Chr19:1223131 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.1243C>T (p.Arg415Cys)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000570343]\|Peutz-Jeghers syndrome [RCV000469436]\|not provided [RCV000484937]\|not specified [RCV003155182]	Chr19:1226588 [GRCh38] Chr19:1226587 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1098C>G (p.Phe366Leu)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001183864]	Chr19:1223162 [GRCh38] Chr19:1223161 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.464+14_464+15delinsTT	indel	not provided [RCV000481382]	Chr19:1219427..1219428 [GRCh38] Chr19:1219426..1219427 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.*17-10C>T	single nucleotide variant	not provided [RCV001721551]	Chr19:1227583 [GRCh38] Chr19:1227582 [GRCh37] Chr19:19p13.3	likely benign\|uncertain significance
NM_000455.5(STK11):c.-50_-43del	deletion	not specified [RCV000485731]	Chr19:1206864..1206871 [GRCh38] Chr19:1206863..1206870 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.750G>A (p.Thr250=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000583559]\|Peutz-Jeghers syndrome [RCV000461110]	Chr19:1221228 [GRCh38] Chr19:1221227 [GRCh37] Chr19:19p13.3	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_000455.5(STK11):c.735C>G (p.Leu245=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000569002]\|Peutz-Jeghers syndrome [RCV000464853]\|not provided [RCV001284360]\|not specified [RCV001199901]	Chr19:1221213 [GRCh38] Chr19:1221212 [GRCh37] Chr19:19p13.3	benign\|likely benign\|uncertain significance
NM_000455.5(STK11):c.989_996del (p.Asp330fs)	deletion	Peutz-Jeghers syndrome [RCV000464957]	Chr19:1223051..1223058 [GRCh38] Chr19:1223050..1223057 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.889A>C (p.Arg297=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001018458]\|Peutz-Jeghers syndrome [RCV000468697]	Chr19:1221975 [GRCh38] Chr19:1221974 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.1016C>G (p.Pro339Arg)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000573350]\|Peutz-Jeghers syndrome [RCV000472320]	Chr19:1223080 [GRCh38] Chr19:1223079 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.*16+20G>A	single nucleotide variant	not provided [RCV001722396]	Chr19:1226683 [GRCh38] Chr19:1226682 [GRCh37] Chr19:19p13.3	likely benign\|uncertain significance
NM_000455.5(STK11):c.870_872del (p.Glu291del)	deletion	not provided [RCV000481684]	Chr19:1221956..1221958 [GRCh38] Chr19:1221955..1221957 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1271_1272delinsAG (p.Ile424Lys)	indel	not provided [RCV000481685]	Chr19:1226616..1226617 [GRCh38] Chr19:1226615..1226616 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.*35G>T	single nucleotide variant	not specified [RCV000481763]	Chr19:1227611 [GRCh38] Chr19:1227610 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.555C>G (p.Thr185=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000568052]\|Peutz-Jeghers syndrome [RCV001467948]	Chr19:1220463 [GRCh38] Chr19:1220462 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.71C>T (p.Thr24Met)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000568581]\|Peutz-Jeghers syndrome [RCV000472539]\|not provided [RCV003477937]	Chr19:1206984 [GRCh38] Chr19:1206983 [GRCh37] Chr19:19p13.3	conflicting interpretations of pathogenicity\|uncertain significance
NM_000455.5(STK11):c.841_842del (p.Pro281fs)	deletion	not provided [RCV000485596]	Chr19:1221315..1221316 [GRCh38] Chr19:1221314..1221315 [GRCh37] Chr19:19p13.3	pathogenic\|likely pathogenic\|likely benign\|uncertain significance
NM_000455.5(STK11):c.735-18C>T	single nucleotide variant	Peutz-Jeghers syndrome [RCV003617816]\|not provided [RCV000486231]	Chr19:1221195 [GRCh38] Chr19:1221194 [GRCh37] Chr19:19p13.3	likely benign\|uncertain significance
NM_000455.5(STK11):c.16+7_16+36del	deletion	Hereditary cancer-predisposing syndrome [RCV001190705]\|not specified [RCV000486370]	Chr19:1226664..1226693 [GRCh38] Chr19:1226663..1226692 [GRCh37] Chr19:19p13.3	likely benign\|uncertain significance
NM_000455.5(STK11):c.1105C>T (p.Pro369Ser)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000568350]\|Melanoma, cutaneous malignant, susceptibility to, 1 [RCV003465250]\|Peutz-Jeghers syndrome [RCV001219709]	Chr19:1223169 [GRCh38] Chr19:1223168 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.348G>T (p.Val116=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000492302]\|Peutz-Jeghers syndrome [RCV000461529]\|not provided [RCV003478000]	Chr19:1218474 [GRCh38] Chr19:1218473 [GRCh37] Chr19:19p13.3	likely benign\|uncertain significance
NM_000455.5(STK11):c.156G>T (p.Gly52=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000573421]\|Peutz-Jeghers syndrome [RCV000465420]	Chr19:1207069 [GRCh38] Chr19:1207068 [GRCh37] Chr19:19p13.3	likely benign\|uncertain significance
NM_000455.5(STK11):c.1037_1042del (p.Gly346_Ala347del)	deletion	Hereditary cancer-predisposing syndrome [RCV000579444]\|Peutz-Jeghers syndrome [RCV000472798]\|not specified [RCV001800673]	Chr19:1223100..1223105 [GRCh38] Chr19:1223099..1223104 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.667G>A (p.Glu223Lys)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002365582]\|Peutz-Jeghers syndrome [RCV000476773]	Chr19:1220650 [GRCh38] Chr19:1220649 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.29_40del	deletion	not specified [RCV000482193]	Chr19:1227600..1227611 [GRCh38] Chr19:1227599..1227610 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.1195C>A (p.Gln399Lys)	single nucleotide variant	Carcinoma of pancreas [RCV000765434]\|Hereditary cancer-predisposing syndrome [RCV000579669]\|Peutz-Jeghers syndrome [RCV000458053]	Chr19:1226540 [GRCh38] Chr19:1226539 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1017G>C (p.Pro339=)	single nucleotide variant	Peutz-Jeghers syndrome [RCV001499654]	Chr19:1223081 [GRCh38] Chr19:1223080 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.652G>A (p.Ala218Thr)	single nucleotide variant	Peutz-Jeghers syndrome [RCV002525808]\|not provided [RCV000482499]	Chr19:1220635 [GRCh38] Chr19:1220634 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1124AGG[1] (p.Glu376del)	microsatellite	Hereditary cancer-predisposing syndrome [RCV000565927]\|Peutz-Jeghers syndrome [RCV000685196]\|not provided [RCV000482588]	Chr19:1226468..1226470 [GRCh38] Chr19:1226467..1226469 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.-7del	deletion	Hereditary cancer-predisposing syndrome [RCV000579851]\|Peutz-Jeghers syndrome [RCV001775122]\|not specified [RCV000487021]	Chr19:1206905 [GRCh38] Chr19:1206904 [GRCh37] Chr19:19p13.3	likely benign\|uncertain significance
NC_000019.10:g.(?_1218417)_(1219413_?)del	deletion	Peutz-Jeghers syndrome [RCV000462047]	Chr19:1218417..1219413 [GRCh38] Chr19:1218416..1219412 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.558C>A (p.Thr186=)	single nucleotide variant	Peutz-Jeghers syndrome [RCV000462060]	Chr19:1220466 [GRCh38] Chr19:1220465 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1168G>C (p.Val390Leu)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001010118]\|Peutz-Jeghers syndrome [RCV001809431]\|not provided [RCV000482762]	Chr19:1226513 [GRCh38] Chr19:1226512 [GRCh37] Chr19:19p13.3	conflicting interpretations of pathogenicity\|uncertain significance
NM_000455.5(STK11):c.674C>T (p.Ala225Val)	single nucleotide variant	Peutz-Jeghers syndrome [RCV000462348]	Chr19:1220657 [GRCh38] Chr19:1220656 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1045GAGGAC[1] (p.349ED[1])	microsatellite	Hereditary cancer-predisposing syndrome [RCV001017134]\|Peutz-Jeghers syndrome [RCV000469680]\|not provided [RCV001284237]	Chr19:1223105..1223110 [GRCh38] Chr19:1223104..1223109 [GRCh37] Chr19:19p13.3	conflicting interpretations of pathogenicity\|uncertain significance
NM_000455.5(STK11):c.1218G>C (p.Ala406=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001010383]\|Peutz-Jeghers syndrome [RCV000469744]	Chr19:1226563 [GRCh38] Chr19:1226562 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.952G>A (p.Ala318Thr)	single nucleotide variant	Peutz-Jeghers syndrome [RCV000469875]	Chr19:1223016 [GRCh38] Chr19:1223015 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.910del (p.Arg304fs)	deletion	Hereditary cancer-predisposing syndrome [RCV002374885]\|Peutz-Jeghers syndrome [RCV001865435]\|not provided [RCV000487243]	Chr19:1221995 [GRCh38] Chr19:1221994 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.577T>G (p.Ser193Ala)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002356782]\|Melanoma, cutaneous malignant, susceptibility to, 1 [RCV003470565]\|Peutz-Jeghers syndrome [RCV000632811]\|not provided [RCV000483028]	Chr19:1220485 [GRCh38] Chr19:1220484 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.934A>C (p.Lys312Gln)	single nucleotide variant	Peutz-Jeghers syndrome [RCV000458631]	Chr19:1222998 [GRCh38] Chr19:1222997 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.489C>T (p.Gly163=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000561025]\|Peutz-Jeghers syndrome [RCV000458820]	Chr19:1220397 [GRCh38] Chr19:1220396 [GRCh37] Chr19:19p13.3	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_000455.5(STK11):c.1046A>C (p.Glu349Ala)	single nucleotide variant	Breast and/or ovarian cancer [RCV003150212]\|Hereditary cancer-predisposing syndrome [RCV002402227]\|Peutz-Jeghers syndrome [RCV000458847]	Chr19:1223110 [GRCh38] Chr19:1223109 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1109-9C>T	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001525938]\|Peutz-Jeghers syndrome [RCV000462631]	Chr19:1226445 [GRCh38] Chr19:1226444 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.358G>T (p.Glu120Ter)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000492438]\|Peutz-Jeghers syndrome [RCV001809438]\|not provided [RCV000480132]	Chr19:1218484 [GRCh38] Chr19:1218483 [GRCh37] Chr19:19p13.3	pathogenic\|likely pathogenic
NM_000455.5(STK11):c.598-5C>T	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000568452]	Chr19:1220576 [GRCh38] Chr19:1220575 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.199del (p.Leu67fs)	deletion	Peutz-Jeghers syndrome [RCV000804860]\|not provided [RCV000508299]	Chr19:1207112 [GRCh38] Chr19:1207111 [GRCh37] Chr19:19p13.3	pathogenic\|likely pathogenic
NM_000455.5(STK11):c.1286C>T (p.Ala429Val)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001189892]\|Peutz-Jeghers syndrome [RCV001809460]\|not specified [RCV000508410]	Chr19:1226631 [GRCh38] Chr19:1226630 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.854T>C (p.Leu285Pro)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002413391]\|Peutz-Jeghers syndrome [RCV000697905]\|not specified [RCV000508448]	Chr19:1221332 [GRCh38] Chr19:1221331 [GRCh37] Chr19:19p13.3	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance
NM_000455.5(STK11):c.752del (p.Gly251fs)	deletion	Hereditary cancer-predisposing syndrome [RCV000492086]	Chr19:1221228 [GRCh38] Chr19:1221227 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.1104G>A (p.Val368=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000492147]	Chr19:1223168 [GRCh38] Chr19:1223167 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.890_907del (p.Arg297_Gln302del)	deletion	Hereditary cancer-predisposing syndrome [RCV000492152]	Chr19:1221973..1221990 [GRCh38] Chr19:1221972..1221989 [GRCh37] Chr19:19p13.3	likely pathogenic
NM_000455.5(STK11):c.608dup (p.Phe204fs)	duplication	Hereditary cancer-predisposing syndrome [RCV000492160]	Chr19:1220588..1220589 [GRCh38] Chr19:1220587..1220588 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.481A>T (p.Ile161Phe)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000492167]\|Peutz-Jeghers syndrome [RCV001809447]\|not provided [RCV000522813]	Chr19:1220389 [GRCh38] Chr19:1220388 [GRCh37] Chr19:19p13.3	likely pathogenic\|uncertain significance
NM_000455.5(STK11):c.1120G>A (p.Glu374Lys)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000492193]\|Peutz-Jeghers syndrome [RCV000531354]	Chr19:1226465 [GRCh38] Chr19:1226464 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.658C>T (p.Gln220Ter)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000492208]\|Peutz-Jeghers syndrome [RCV000557192]\|not provided [RCV001548233]	Chr19:1220641 [GRCh38] Chr19:1220640 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.497_500dup (p.His168fs)	duplication	Hereditary cancer-predisposing syndrome [RCV000492215]	Chr19:1220403..1220404 [GRCh38] Chr19:1220402..1220403 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.816C>G (p.Tyr272Ter)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000492232]	Chr19:1221294 [GRCh38] Chr19:1221293 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.151_162del (p.Met51_Leu54del)	deletion	Hereditary cancer-predisposing syndrome [RCV000492248]\|Peutz-Jeghers syndrome [RCV003507283]	Chr19:1207059..1207070 [GRCh38] Chr19:1207058..1207069 [GRCh37] Chr19:19p13.3	likely pathogenic\|uncertain significance
NM_000455.5(STK11):c.367C>T (p.Gln123Ter)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000492251]\|Peutz-Jeghers syndrome [RCV001856951]	Chr19:1218493 [GRCh38] Chr19:1218492 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.709G>C (p.Asp237His)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000492258]	Chr19:1220692 [GRCh38] Chr19:1220691 [GRCh37] Chr19:19p13.3	likely pathogenic\|uncertain significance
NM_000455.5(STK11):c.664_666dup (p.Pro222dup)	duplication	Hereditary cancer-predisposing syndrome [RCV000492259]	Chr19:1220646..1220647 [GRCh38] Chr19:1220645..1220646 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.465-2A>C	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000492282]	Chr19:1220371 [GRCh38] Chr19:1220370 [GRCh37] Chr19:19p13.3	likely pathogenic
NM_000455.5(STK11):c.363_367dup (p.Gln123fs)	duplication	Hereditary cancer-predisposing syndrome [RCV000492296]	Chr19:1218488..1218489 [GRCh38] Chr19:1218487..1218488 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.164T>C (p.Leu55Pro)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000492311]	Chr19:1207077 [GRCh38] Chr19:1207076 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.911G>C (p.Arg304Pro)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000492320]\|Peutz-Jeghers syndrome [RCV003507284]\|not provided [RCV003105924]	Chr19:1221997 [GRCh38] Chr19:1221996 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.843dup (p.Leu282fs)	duplication	Hereditary cancer-predisposing syndrome [RCV000492368]\|Peutz-Jeghers syndrome [RCV000990129]	Chr19:1221320..1221321 [GRCh38] Chr19:1221319..1221320 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.713T>A (p.Ile238Asn)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000492388]	Chr19:1220696 [GRCh38] Chr19:1220695 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.640C>T (p.Gln214Ter)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000492400]\|Peutz-Jeghers syndrome [RCV001269112]	Chr19:1220623 [GRCh38] Chr19:1220622 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.862+1G>T	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000492404]\|Peutz-Jeghers syndrome [RCV000807365]	Chr19:1221341 [GRCh38] Chr19:1221340 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.1063G>A (p.Asp355Asn)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002413389]\|Peutz-Jeghers syndrome [RCV000815148]\|not provided [RCV002292557]\|not specified [RCV000505996]	Chr19:1223127 [GRCh38] Chr19:1223126 [GRCh37] Chr19:19p13.3	conflicting interpretations of pathogenicity\|uncertain significance
GRCh37/hg19 19p13.3(chr19:260911-1965786)x3	copy number gain	See cases [RCV000511452]	Chr19:260911..1965786 [GRCh37] Chr19:19p13.3	likely pathogenic
NM_000455.5(STK11):c.195_198del (p.Glu65fs)	deletion	Hereditary cancer-predisposing syndrome [RCV000492429]	Chr19:1207108..1207111 [GRCh38] Chr19:1207107..1207110 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.734+2T>C	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000492457]	Chr19:1220719 [GRCh38] Chr19:1220718 [GRCh37] Chr19:19p13.3	likely pathogenic
NM_000455.5(STK11):c.209dup (p.Thr71fs)	duplication	Hereditary cancer-predisposing syndrome [RCV000492465]	Chr19:1207121..1207122 [GRCh38] Chr19:1207120..1207121 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.734+1G>C	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000492482]	Chr19:1220718 [GRCh38] Chr19:1220717 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.545T>G (p.Leu182Arg)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000492488]	Chr19:1220453 [GRCh38] Chr19:1220452 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.863-2A>G	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000492497]	Chr19:1221947 [GRCh38] Chr19:1221946 [GRCh37] Chr19:19p13.3	likely pathogenic
NM_000455.5(STK11):c.180C>G (p.Tyr60Ter)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000492522]\|Peutz-Jeghers syndrome [RCV000540715]	Chr19:1207093 [GRCh38] Chr19:1207092 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.156_157del (p.Asp53fs)	deletion	Hereditary cancer-predisposing syndrome [RCV000492531]	Chr19:1207066..1207067 [GRCh38] Chr19:1207065..1207066 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.920+1G>A	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000492545]\|Peutz-Jeghers syndrome [RCV000709574]	Chr19:1222007 [GRCh38] Chr19:1222006 [GRCh37] Chr19:19p13.3	pathogenic\|likely pathogenic
NM_000455.5(STK11):c.598-2A>G	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000492574]\|Peutz-Jeghers syndrome [RCV001389743]	Chr19:1220579 [GRCh38] Chr19:1220578 [GRCh37] Chr19:19p13.3	pathogenic\|likely pathogenic
NM_000455.4(STK11):c.487delGins19 (p.?)	indel	Hereditary cancer-predisposing syndrome [RCV000492578]	Chr19:1220395 [GRCh38] Chr19:1220394 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.876del (p.Glu291_Tyr292insTer)	deletion	Hereditary cancer-predisposing syndrome [RCV000492598]	Chr19:1221962 [GRCh38] Chr19:1221961 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.913C>T (p.Gln305Ter)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000492604]\|Peutz-Jeghers syndrome [RCV001386709]\|not provided [RCV000657704]	Chr19:1221999 [GRCh38] Chr19:1221998 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.290+1G>A	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000492614]\|Peutz-Jeghers syndrome [RCV000533344]	Chr19:1207204 [GRCh38] Chr19:1207203 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.540dup (p.Asn181fs)	duplication	Hereditary cancer-predisposing syndrome [RCV000492647]\|Peutz-Jeghers syndrome [RCV003617817]	Chr19:1220444..1220445 [GRCh38] Chr19:1220443..1220444 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.374+1A>G	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000492655]\|Peutz-Jeghers syndrome [RCV001214909]	Chr19:1218501 [GRCh38] Chr19:1218500 [GRCh37] Chr19:19p13.3	pathogenic\|likely pathogenic
NM_000455.5(STK11):c.373dup (p.Met125fs)	duplication	Hereditary cancer-predisposing syndrome [RCV000492673]	Chr19:1218495..1218496 [GRCh38] Chr19:1218494..1218495 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.543C>G (p.Asn181Lys)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000492674]\|Peutz-Jeghers syndrome [RCV000819570]	Chr19:1220451 [GRCh38] Chr19:1220450 [GRCh37] Chr19:19p13.3	pathogenic\|likely pathogenic\|uncertain significance
NM_000455.5(STK11):c.106del (p.Tyr36fs)	deletion	Hereditary cancer-predisposing syndrome [RCV000492692]	Chr19:1207019 [GRCh38] Chr19:1207018 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.93dup (p.Thr32fs)	duplication	Hereditary cancer-predisposing syndrome [RCV000492722]	Chr19:1207004..1207005 [GRCh38] Chr19:1207003..1207004 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.155_157del (p.Gly52del)	deletion	Hereditary cancer-predisposing syndrome [RCV000492735]\|Peutz-Jeghers syndrome [RCV000693516]	Chr19:1207066..1207068 [GRCh38] Chr19:1207065..1207067 [GRCh37] Chr19:19p13.3	likely pathogenic\|uncertain significance
NM_000455.5(STK11):c.172G>A (p.Gly58Ser)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000492751]	Chr19:1207085 [GRCh38] Chr19:1207084 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.446del (p.Pro149fs)	deletion	Hereditary cancer-predisposing syndrome [RCV000492754]	Chr19:1219393 [GRCh38] Chr19:1219392 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.238C>G (p.Leu80Val)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000492758]\|Melanoma, cutaneous malignant, susceptibility to, 1 [RCV003464060]\|Peutz-Jeghers syndrome [RCV001316347]	Chr19:1207151 [GRCh38] Chr19:1207150 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.159_170del (p.Asp53_Gly56del)	deletion	Hereditary cancer-predisposing syndrome [RCV000492760]\|Peutz-Jeghers syndrome [RCV002523987]\|not specified [RCV000583353]	Chr19:1207065..1207076 [GRCh38] Chr19:1207064..1207075 [GRCh37] Chr19:19p13.3	likely pathogenic\|uncertain significance
NM_000455.5(STK11):c.180C>A (p.Tyr60Ter)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000492762]\|Peutz-Jeghers syndrome [RCV000550769]	Chr19:1207093 [GRCh38] Chr19:1207092 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.4(STK11):c.179dup (p.Tyr60Terfs)	duplication	not provided [RCV000506793]	Chr19:1207092 [GRCh38] Chr19:1207091 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.942T>C (p.Pro314=)	single nucleotide variant	Peutz-Jeghers syndrome [RCV001125997]\|not specified [RCV000507813]	Chr19:1223006 [GRCh38] Chr19:1223005 [GRCh37] Chr19:19p13.3	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_000455.5(STK11):c.189G>A (p.Val63=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002413390]\|Peutz-Jeghers syndrome [RCV000524668]\|not provided [RCV002275065]\|not specified [RCV000507883]	Chr19:1207102 [GRCh38] Chr19:1207101 [GRCh37] Chr19:19p13.3	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_000455.5(STK11):c.117C>T (p.Arg39=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001010158]\|Peutz-Jeghers syndrome [RCV000937456]\|not specified [RCV000507940]	Chr19:1207030 [GRCh38] Chr19:1207029 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.639C>T (p.Ser213=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000569567]\|Peutz-Jeghers syndrome [RCV002530344]	Chr19:1220622 [GRCh38] Chr19:1220621 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.1175T>G (p.Met392Arg)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000569598]\|Peutz-Jeghers syndrome [RCV001247509]	Chr19:1226520 [GRCh38] Chr19:1226519 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1203C>T (p.Ser401=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000569955]\|Peutz-Jeghers syndrome [RCV001499326]	Chr19:1226548 [GRCh38] Chr19:1226547 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.639C>G (p.Ser213Arg)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000572906]	Chr19:1220622 [GRCh38] Chr19:1220621 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.93C>T (p.Ser31=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000575383]\|Peutz-Jeghers syndrome [RCV000879397]	Chr19:1207006 [GRCh38] Chr19:1207005 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.30C>T (p.Gly10=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000575435]\|Peutz-Jeghers syndrome [RCV001858142]	Chr19:1206943 [GRCh38] Chr19:1206942 [GRCh37] Chr19:19p13.3	likely benign\|uncertain significance
NM_000455.5(STK11):c.1211C>A (p.Ser404Tyr)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001010339]\|Peutz-Jeghers syndrome [RCV000525214]	Chr19:1226556 [GRCh38] Chr19:1226555 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.179_180dup (p.Gly61fs)	duplication	Peutz-Jeghers syndrome [RCV000525862]	Chr19:1207091..1207092 [GRCh38] Chr19:1207090..1207091 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.49C>G (p.Leu17Val)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000774552]\|Peutz-Jeghers syndrome [RCV000526066]\|STK11-related condition [RCV003983109]	Chr19:1206962 [GRCh38] Chr19:1206961 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1209A>G (p.Lys403=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000575708]	Chr19:1226554 [GRCh38] Chr19:1226553 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.559G>C (p.Gly187Arg)	single nucleotide variant	Peutz-Jeghers syndrome [RCV000544810]	Chr19:1220467 [GRCh38] Chr19:1220466 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.486C>T (p.Asp162=)	single nucleotide variant	Carcinoma of pancreas [RCV002490970]\|Hereditary cancer-predisposing syndrome [RCV000777278]\|Peutz-Jeghers syndrome [RCV000547648]	Chr19:1220394 [GRCh38] Chr19:1220393 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.1222G>A (p.Gly408Ser)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000573130]\|Peutz-Jeghers syndrome [RCV001049296]	Chr19:1226567 [GRCh38] Chr19:1226566 [GRCh37] Chr19:19p13.3	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_000455.5(STK11):c.273G>A (p.Gly91=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003278881]\|Peutz-Jeghers syndrome [RCV000528283]	Chr19:1207186 [GRCh38] Chr19:1207185 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.53T>C (p.Met18Thr)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000575786]\|Peutz-Jeghers syndrome [RCV000798678]	Chr19:1206966 [GRCh38] Chr19:1206965 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.276G>A (p.Glu92=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000575822]	Chr19:1207189 [GRCh38] Chr19:1207188 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.1141G>A (p.Gly381Arg)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002456067]\|Peutz-Jeghers syndrome [RCV000529286]	Chr19:1226486 [GRCh38] Chr19:1226485 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.305T>C (p.Leu102Pro)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000576011]	Chr19:1218431 [GRCh38] Chr19:1218430 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1106C>G (p.Pro369Arg)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000570729]\|Peutz-Jeghers syndrome [RCV001809676]	Chr19:1223170 [GRCh38] Chr19:1223169 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.900C>G (p.Ile300Met)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000573757]	Chr19:1221986 [GRCh38] Chr19:1221985 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1051G>A (p.Glu351Lys)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000571262]\|Melanoma, cutaneous malignant, susceptibility to, 1 [RCV003459373]\|Peutz-Jeghers syndrome [RCV000814419]	Chr19:1223115 [GRCh38] Chr19:1223114 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1265G>C (p.Ser422Thr)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003300757]	Chr19:1226610 [GRCh38] Chr19:1226609 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.884_888del (p.Ala295fs)	deletion	Peutz-Jeghers syndrome [RCV000537729]	Chr19:1221969..1221973 [GRCh38] Chr19:1221968..1221972 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.773A>C (p.Asp258Ala)	single nucleotide variant	Inborn genetic diseases [RCV003248687]	Chr19:1221251 [GRCh38] Chr19:1221250 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.618G>C (p.Ala206=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000571887]\|Peutz-Jeghers syndrome [RCV001125011]	Chr19:1220601 [GRCh38] Chr19:1220600 [GRCh37] Chr19:19p13.3	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	copy number gain	See cases [RCV000512296]	Chr19:260912..58956888 [GRCh37] Chr19:19p13.3-q13.43	pathogenic
NM_000455.5(STK11):c.90C>G (p.Asp30Glu)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000572006]\|Peutz-Jeghers syndrome [RCV001809609]	Chr19:1207003 [GRCh38] Chr19:1207002 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.4(STK11):c.918_919delinsTCC (p.Ser307fs)	indel	Peutz-Jeghers syndrome [RCV000632804]	Chr19:1222004..1222005 [GRCh38] Chr19:1222003..1222004 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.895_901dup (p.Arg301fs)	duplication	Peutz-Jeghers syndrome [RCV000632807]	Chr19:1221979..1221980 [GRCh38] Chr19:1221978..1221979 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.468C>G (p.Tyr156Ter)	single nucleotide variant	Peutz-Jeghers syndrome [RCV000632808]	Chr19:1220376 [GRCh38] Chr19:1220375 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.1273C>A (p.Arg425Ser)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000572126]\|Peutz-Jeghers syndrome [RCV001346901]	Chr19:1226618 [GRCh38] Chr19:1226617 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1147C>G (p.Arg383Gly)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001017466]\|Peutz-Jeghers syndrome [RCV000632814]	Chr19:1226492 [GRCh38] Chr19:1226491 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.238C>T (p.Leu80Phe)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002431871]\|Peutz-Jeghers syndrome [RCV000632817]	Chr19:1207151 [GRCh38] Chr19:1207150 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.157dup (p.Asp53fs)	duplication	Hereditary cancer-predisposing syndrome [RCV002404753]\|Peutz-Jeghers syndrome [RCV000632819]	Chr19:1207065..1207066 [GRCh38] Chr19:1207064..1207065 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.1277G>T (p.Arg426Leu)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001175694]\|Peutz-Jeghers syndrome [RCV000632829]	Chr19:1226622 [GRCh38] Chr19:1226621 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1078A>G (p.Ile360Val)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001175695]\|Peutz-Jeghers syndrome [RCV000632830]	Chr19:1223142 [GRCh38] Chr19:1223141 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.762C>T (p.Pro254=)	single nucleotide variant	Peutz-Jeghers syndrome [RCV000632862]	Chr19:1221240 [GRCh38] Chr19:1221239 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.507C>T (p.Ser169=)	single nucleotide variant	Peutz-Jeghers syndrome [RCV000632868]	Chr19:1220415 [GRCh38] Chr19:1220414 [GRCh37] Chr19:19p13.3	likely benign
NC_000019.10:g.(?_1218411)_(1220723_?)del	deletion	Peutz-Jeghers syndrome [RCV000632875]	Chr19:1218411..1220723 [GRCh38] Chr19:1218410..1220722 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.727del (p.Val243fs)	deletion	Peutz-Jeghers syndrome [RCV000515491]	Chr19:1220707 [GRCh38] Chr19:1220706 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.428T>C (p.Val143Ala)	single nucleotide variant	Breast cancer, susceptibility to [RCV000656476]	Chr19:1219377 [GRCh38] Chr19:1219376 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1212C>T (p.Ser404=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000573266]\|Peutz-Jeghers syndrome [RCV000632866]\|not provided [RCV003478270]\|not specified [RCV001821681]	Chr19:1226557 [GRCh38] Chr19:1226556 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.4(STK11):c.821delinsAC (p.Ile274fs)	indel	Peutz-Jeghers syndrome [RCV000632803]	Chr19:1221299 [GRCh38] Chr19:1221298 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.761C>G (p.Pro254Arg)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001175693]\|Peutz-Jeghers syndrome [RCV000632820]	Chr19:1221239 [GRCh38] Chr19:1221238 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.458C>A (p.Ala153Asp)	single nucleotide variant	Peutz-Jeghers syndrome [RCV000632806]	Chr19:1219407 [GRCh38] Chr19:1219406 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.256C>T (p.Arg86Ter)	single nucleotide variant	Melanoma, cutaneous malignant, susceptibility to, 1 [RCV003459509]\|Peutz-Jeghers syndrome [RCV000632832]	Chr19:1207169 [GRCh38] Chr19:1207168 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.598-1G>A	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003362870]\|Peutz-Jeghers syndrome [RCV000632836]	Chr19:1220580 [GRCh38] Chr19:1220579 [GRCh37] Chr19:19p13.3	pathogenic\|likely pathogenic
NM_000455.5(STK11):c.770G>C (p.Gly257Ala)	single nucleotide variant	Peutz-Jeghers syndrome [RCV000632840]	Chr19:1221248 [GRCh38] Chr19:1221247 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1026G>A (p.Glu342=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002385992]\|Peutz-Jeghers syndrome [RCV000632842]	Chr19:1223090 [GRCh38] Chr19:1223089 [GRCh37] Chr19:19p13.3	likely benign\|uncertain significance
NM_000455.5(STK11):c.523A>G (p.Lys175Glu)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002343226]\|Peutz-Jeghers syndrome [RCV000632843]	Chr19:1220431 [GRCh38] Chr19:1220430 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.831C>A (p.Asp277Glu)	single nucleotide variant	Peutz-Jeghers syndrome [RCV000632844]	Chr19:1221309 [GRCh38] Chr19:1221308 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.419T>C (p.Leu140Pro)	single nucleotide variant	Peutz-Jeghers syndrome [RCV000632845]	Chr19:1219368 [GRCh38] Chr19:1219367 [GRCh37] Chr19:19p13.3	pathogenic\|uncertain significance
NM_000455.5(STK11):c.1279C>T (p.Leu427=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001010715]\|Peutz-Jeghers syndrome [RCV001423288]\|not provided [RCV000632847]	Chr19:1226624 [GRCh38] Chr19:1226623 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.270C>T (p.Asn90=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001181982]\|Peutz-Jeghers syndrome [RCV000632848]	Chr19:1207183 [GRCh38] Chr19:1207182 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.210G>A (p.Glu70=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001179803]\|Peutz-Jeghers syndrome [RCV000632852]	Chr19:1207123 [GRCh38] Chr19:1207122 [GRCh37] Chr19:19p13.3	likely benign
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	copy number gain	See cases [RCV000511289]	Chr19:260912..58956888 [GRCh37] Chr19:19p13.3-q13.43	pathogenic\|uncertain significance
NM_000455.5(STK11):c.143A>G (p.Lys48Arg)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000772687]\|Peutz-Jeghers syndrome [RCV001321016]\|not specified [RCV000609565]	Chr19:1207056 [GRCh38] Chr19:1207055 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.795_796dup (p.Asn266fs)	microsatellite	Peutz-Jeghers syndrome [RCV000632838]	Chr19:1221270..1221271 [GRCh38] Chr19:1221269..1221270 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.291-18C>T	single nucleotide variant	Peutz-Jeghers syndrome [RCV002529534]\|not specified [RCV000600050]	Chr19:1218399 [GRCh38] Chr19:1218398 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.-17A>G	single nucleotide variant	not specified [RCV000609585]	Chr19:1206897 [GRCh38] Chr19:1206896 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.918C>T (p.His306=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000571795]\|Peutz-Jeghers syndrome [RCV000982680]	Chr19:1222004 [GRCh38] Chr19:1222003 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.810G>A (p.Gly270=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000574321]\|Peutz-Jeghers syndrome [RCV003617830]	Chr19:1221288 [GRCh38] Chr19:1221287 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.1108+18C>G	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001176361]\|Peutz-Jeghers syndrome [RCV002063219]\|not specified [RCV000615826]	Chr19:1223190 [GRCh38] Chr19:1223189 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.1109-17T>C	single nucleotide variant	Peutz-Jeghers syndrome [RCV001860352]\|not specified [RCV000610454]	Chr19:1226437 [GRCh38] Chr19:1226436 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.1108+460C>T	single nucleotide variant	not provided [RCV003312424]	Chr19:1223632 [GRCh38] Chr19:1223631 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.54G>A (p.Met18Ile)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000570526]\|Peutz-Jeghers syndrome [RCV001219409]	Chr19:1206967 [GRCh38] Chr19:1206966 [GRCh37] Chr19:19p13.3	uncertain significance
NC_000019.9:g.(?_1206907)_(1222011_?)dup	duplication	Peutz-Jeghers syndrome [RCV000534940]	Chr19:1206908..1222012 [GRCh38] Chr19:1206907..1222011 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1102G>A (p.Val368Met)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000570582]\|Peutz-Jeghers syndrome [RCV000824509]\|not provided [RCV001552383]	Chr19:1223166 [GRCh38] Chr19:1223165 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.76A>G (p.Ile26Val)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002404387]\|Peutz-Jeghers syndrome [RCV000527741]	Chr19:1206989 [GRCh38] Chr19:1206988 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.122A>C (p.Lys41Thr)	single nucleotide variant	Peutz-Jeghers syndrome [RCV000528814]	Chr19:1207035 [GRCh38] Chr19:1207034 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.841C>T (p.Pro281Ser)	single nucleotide variant	Peutz-Jeghers syndrome [RCV000529632]	Chr19:1221319 [GRCh38] Chr19:1221318 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.837C>A (p.Gly279=)	single nucleotide variant	Familial ovarian cancer [RCV001356806]\|Hereditary cancer-predisposing syndrome [RCV000571229]\|Peutz-Jeghers syndrome [RCV000879771]	Chr19:1221315 [GRCh38] Chr19:1221314 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.921-9del	deletion	Peutz-Jeghers syndrome [RCV002532788]\|not specified [RCV000611817]	Chr19:1222976 [GRCh38] Chr19:1222975 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.789G>A (p.Leu263=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002420646]\|Peutz-Jeghers syndrome [RCV001860330]\|not specified [RCV000614579]	Chr19:1221267 [GRCh38] Chr19:1221266 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.829G>C (p.Asp277His)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000573902]\|Peutz-Jeghers syndrome [RCV001853750]	Chr19:1221307 [GRCh38] Chr19:1221306 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.290+18G>A	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001177929]\|Peutz-Jeghers syndrome [RCV002066682]\|not specified [RCV000604623]	Chr19:1207221 [GRCh38] Chr19:1207220 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.75C>T (p.Phe25=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000574061]\|Peutz-Jeghers syndrome [RCV002060542]	Chr19:1206988 [GRCh38] Chr19:1206987 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.-11del	deletion	not specified [RCV000605235]	Chr19:1206901 [GRCh38] Chr19:1206900 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.863-10T>G	single nucleotide variant	Peutz-Jeghers syndrome [RCV000632855]	Chr19:1221939 [GRCh38] Chr19:1221938 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.991C>T (p.Arg331Trp)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000217573]\|Peutz-Jeghers syndrome [RCV000460876]\|not provided [RCV003477719]\|not specified [RCV001293583]	Chr19:1223055 [GRCh38] Chr19:1223054 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.176C>G (p.Ser59Cys)	single nucleotide variant	not provided [RCV000213610]	Chr19:1207089 [GRCh38] Chr19:1207088 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.724G>T (p.Gly242Trp)	single nucleotide variant	Peutz-Jeghers syndrome [RCV000226562]	Chr19:1220707 [GRCh38] Chr19:1220706 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.120C>T (p.Arg40=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000571116]\|Peutz-Jeghers syndrome [RCV000232514]\|not specified [RCV000482947]	Chr19:1207033 [GRCh38] Chr19:1207032 [GRCh37] Chr19:19p13.3	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_000455.5(STK11):c.460C>G (p.His154Asp)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002338706]\|Peutz-Jeghers syndrome [RCV000233110]	Chr19:1219409 [GRCh38] Chr19:1219408 [GRCh37] Chr19:19p13.3	likely pathogenic\|uncertain significance
NM_000455.5(STK11):c.542A>G (p.Asn181Ser)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000492112]\|Peutz-Jeghers syndrome [RCV000241351]	Chr19:1220450 [GRCh38] Chr19:1220449 [GRCh37] Chr19:19p13.3	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity
NM_000455.5(STK11):c.1273C>T (p.Arg425Cys)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000564533]\|Melanoma, cutaneous malignant, susceptibility to, 1 [RCV003459198]\|Peutz-Jeghers syndrome [RCV000560595]	Chr19:1226618 [GRCh38] Chr19:1226617 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.*413C>A	single nucleotide variant	Peutz-Jeghers syndrome [RCV000275800]	Chr19:1227989 [GRCh38] Chr19:1227988 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.*201G>A	single nucleotide variant	Peutz-Jeghers syndrome [RCV000342946]	Chr19:1227777 [GRCh38] Chr19:1227776 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.-311C>T	single nucleotide variant	Peutz-Jeghers syndrome [RCV000324682]\|not provided [RCV001544734]	Chr19:1206603 [GRCh38] Chr19:1206602 [GRCh37] Chr19:19p13.3	benign\|likely benign
NM_000455.5(STK11):c.1224C>T (p.Gly408=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000572625]\|Peutz-Jeghers syndrome [RCV001481328]	Chr19:1226569 [GRCh38] Chr19:1226568 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.*6G>A	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000582343]\|Peutz-Jeghers syndrome [RCV001808824]\|not specified [RCV000432723]	Chr19:1226653 [GRCh38] Chr19:1226652 [GRCh37] Chr19:19p13.3	likely benign\|uncertain significance
NM_000455.5(STK11):c.112C>A (p.Pro38Thr)	single nucleotide variant	Peutz-Jeghers syndrome [RCV000474390]	Chr19:1207025 [GRCh38] Chr19:1207024 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.464+3G>A	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000581483]\|Peutz-Jeghers syndrome [RCV000474445]	Chr19:1219416 [GRCh38] Chr19:1219415 [GRCh37] Chr19:19p13.3	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_000455.5(STK11):c.434A>C (p.Glu145Ala)	single nucleotide variant	not provided [RCV000486069]	Chr19:1219383 [GRCh38] Chr19:1219382 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.123G>A (p.Lys41=)	single nucleotide variant	Peutz-Jeghers syndrome [RCV000541626]	Chr19:1207036 [GRCh38] Chr19:1207035 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.1145A>G (p.Gln382Arg)	single nucleotide variant	Familial ovarian cancer [RCV001355465]\|Hereditary cancer-predisposing syndrome [RCV001017452]\|Peutz-Jeghers syndrome [RCV000632802]	Chr19:1226490 [GRCh38] Chr19:1226489 [GRCh37] Chr19:19p13.3	conflicting interpretations of pathogenicity\|uncertain significance
NM_000455.5(STK11):c.22C>G (p.Gln8Glu)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001015109]\|Peutz-Jeghers syndrome [RCV000632809]	Chr19:1206935 [GRCh38] Chr19:1206934 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.920G>A (p.Ser307Asn)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001019004]\|Peutz-Jeghers syndrome [RCV000632810]	Chr19:1222006 [GRCh38] Chr19:1222005 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1210T>C (p.Ser404Pro)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003302995]\|Peutz-Jeghers syndrome [RCV000632812]	Chr19:1226555 [GRCh38] Chr19:1226554 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.620A>G (p.Asp207Gly)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001175692]\|Peutz-Jeghers syndrome [RCV000632815]\|not provided [RCV001766345]	Chr19:1220603 [GRCh38] Chr19:1220602 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.336G>C (p.Gln112His)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000772391]\|Peutz-Jeghers syndrome [RCV000632821]	Chr19:1218462 [GRCh38] Chr19:1218461 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.374+3A>G	single nucleotide variant	Peutz-Jeghers syndrome [RCV000632822]	Chr19:1218503 [GRCh38] Chr19:1218502 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.617C>G (p.Ala206Gly)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000775311]\|Peutz-Jeghers syndrome [RCV000632823]	Chr19:1220600 [GRCh38] Chr19:1220599 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1250C>G (p.Ala417Gly)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001182961]\|Peutz-Jeghers syndrome [RCV000632824]	Chr19:1226595 [GRCh38] Chr19:1226594 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1066A>G (p.Ile356Val)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001009829]\|Peutz-Jeghers syndrome [RCV000632825]	Chr19:1223130 [GRCh38] Chr19:1223129 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1102G>C (p.Val368Leu)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002431872]\|Peutz-Jeghers syndrome [RCV000632826]	Chr19:1223166 [GRCh38] Chr19:1223165 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.364A>C (p.Lys122Gln)	single nucleotide variant	Peutz-Jeghers syndrome [RCV000632827]	Chr19:1218490 [GRCh38] Chr19:1218489 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1097_1108+1232del	deletion	Peutz-Jeghers syndrome [RCV000632831]	Chr19:1223159..1224402 [GRCh38] Chr19:1223158..1224401 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.463G>T (p.Gly155Trp)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000775651]\|Peutz-Jeghers syndrome [RCV000632834]	Chr19:1219412 [GRCh38] Chr19:1219411 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.298C>G (p.Gln100Glu)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000775650]\|Peutz-Jeghers syndrome [RCV000632835]\|not specified [RCV000781895]	Chr19:1218424 [GRCh38] Chr19:1218423 [GRCh37] Chr19:19p13.3	conflicting interpretations of pathogenicity\|uncertain significance
NM_000455.5(STK11):c.1077C>T (p.Asp359=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002420695]\|Peutz-Jeghers syndrome [RCV000632849]	Chr19:1223141 [GRCh38] Chr19:1223140 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.853C>T (p.Leu285=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002413809]\|Peutz-Jeghers syndrome [RCV000632856]	Chr19:1221331 [GRCh38] Chr19:1221330 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.987G>A (p.Lys329=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001175696]\|Peutz-Jeghers syndrome [RCV001447027]\|not provided [RCV000827459]	Chr19:1223051 [GRCh38] Chr19:1223050 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.18G>C (p.Pro6=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002413810]\|Peutz-Jeghers syndrome [RCV000632860]	Chr19:1206931 [GRCh38] Chr19:1206930 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.207G>A (p.Ser69=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003162813]\|Peutz-Jeghers syndrome [RCV000632863]	Chr19:1207120 [GRCh38] Chr19:1207119 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.702C>T (p.Phe234=)	single nucleotide variant	Peutz-Jeghers syndrome [RCV000632864]	Chr19:1220685 [GRCh38] Chr19:1220684 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.819C>T (p.Ala273=)	single nucleotide variant	Peutz-Jeghers syndrome [RCV000632869]	Chr19:1221297 [GRCh38] Chr19:1221296 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.1191G>C (p.Ala397=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000775664]\|Peutz-Jeghers syndrome [RCV000632870]\|not provided [RCV001653960]	Chr19:1226536 [GRCh38] Chr19:1226535 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.840C>T (p.Pro280=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001017715]\|Peutz-Jeghers syndrome [RCV001490067]\|not provided [RCV000759362]	Chr19:1221318 [GRCh38] Chr19:1221317 [GRCh37] Chr19:19p13.3	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_000455.5(STK11):c.9G>A (p.Val3=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002385993]\|Peutz-Jeghers syndrome [RCV000632873]	Chr19:1206922 [GRCh38] Chr19:1206921 [GRCh37] Chr19:19p13.3	likely benign
NC_000019.9:g.(?_1206907)_(1207208_?)dup	duplication	Peutz-Jeghers syndrome [RCV000632876]	Chr19:1206908..1207209 [GRCh38] Chr19:1206907..1207208 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.891G>A (p.Arg297=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003362861]\|not specified [RCV000607698]	Chr19:1221977 [GRCh38] Chr19:1221976 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.480G>T (p.Leu160=)	single nucleotide variant	Carcinoma of colon [RCV001356159]\|Hereditary cancer-predisposing syndrome [RCV001177845]\|Peutz-Jeghers syndrome [RCV000934535]\|not specified [RCV000605163]	Chr19:1220388 [GRCh38] Chr19:1220387 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.734+41T>C	single nucleotide variant	Peutz-Jeghers syndrome [RCV001809688]\|not provided [RCV001613391]\|not specified [RCV000596190]	Chr19:1220758 [GRCh38] Chr19:1220757 [GRCh37] Chr19:19p13.3	benign
NM_000455.5(STK11):c.555C>T (p.Thr185=)	single nucleotide variant	Peutz-Jeghers syndrome [RCV001489093]\|not specified [RCV000606220]	Chr19:1220463 [GRCh38] Chr19:1220462 [GRCh37] Chr19:19p13.3	likely benign
GRCh37/hg19 19p13.3(chr19:259395-3152419)	copy number gain	Global developmental delay [RCV000626520]	Chr19:259395..3152419 [GRCh37] Chr19:19p13.3	likely pathogenic
NM_000455.5(STK11):c.1109-21C>T	single nucleotide variant	Peutz-Jeghers syndrome [RCV000662450]	Chr19:1226433 [GRCh38] Chr19:1226432 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.597+15G>T	single nucleotide variant	Peutz-Jeghers syndrome [RCV000662688]	Chr19:1220520 [GRCh38] Chr19:1220519 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.290+21_290+26dup	duplication	Hereditary cancer-predisposing syndrome [RCV001177940]\|Peutz-Jeghers syndrome [RCV000663312]\|not specified [RCV002465747]	Chr19:1207219..1207220 [GRCh38] Chr19:1207218..1207219 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.921-2A>C	single nucleotide variant	Peutz-Jeghers syndrome [RCV000664331]	Chr19:1222983 [GRCh38] Chr19:1222982 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.56C>T (p.Ser19Leu)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000777388]\|Peutz-Jeghers syndrome [RCV000663263]	Chr19:1206969 [GRCh38] Chr19:1206968 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.920+28C>T	single nucleotide variant	Peutz-Jeghers syndrome [RCV000662382]	Chr19:1222034 [GRCh38] Chr19:1222033 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.374+2T>C	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002343410]\|Peutz-Jeghers syndrome [RCV000663005]\|not provided [RCV001800843]	Chr19:1218502 [GRCh38] Chr19:1218501 [GRCh37] Chr19:19p13.3	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance
NM_000455.5(STK11):c.465-17GT[2]	microsatellite	Hereditary cancer-predisposing syndrome [RCV000771626]\|Peutz-Jeghers syndrome [RCV000663076]\|not provided [RCV001692256]	Chr19:1220356..1220357 [GRCh38] Chr19:1220355..1220356 [GRCh37] Chr19:19p13.3	benign\|likely benign
NM_000455.5(STK11):c.290+3A>C	single nucleotide variant	Peutz-Jeghers syndrome [RCV000699364]	Chr19:1207206 [GRCh38] Chr19:1207205 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.-1114_290+1del	deletion	Peutz-Jeghers syndrome [RCV000699422]	Chr19:1205799..1207203 [GRCh38] Chr19:1205798..1207202 [GRCh37] Chr19:19p13.3	pathogenic
GRCh37/hg19 19p13.3(chr19:260911-3200875)x3	copy number gain	not provided [RCV000684094]	Chr19:260911..3200875 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.616G>T (p.Ala206Ser)	single nucleotide variant	not provided [RCV000679322]	Chr19:1220599 [GRCh38] Chr19:1220598 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.921-58A>G	single nucleotide variant	not specified [RCV000679328]	Chr19:1222927 [GRCh38] Chr19:1222926 [GRCh37] Chr19:19p13.3	benign
NM_000455.5(STK11):c.921-29_921-28del	deletion	not provided [RCV000679327]	Chr19:1222955..1222956 [GRCh38] Chr19:1222954..1222955 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.921-24G>A	single nucleotide variant	not provided [RCV000679326]	Chr19:1222961 [GRCh38] Chr19:1222960 [GRCh37] Chr19:19p13.3	likely benign
GRCh37/hg19 19p13.3(chr19:715724-1438636)x3	copy number gain	not provided [RCV000684086]	Chr19:715724..1438636 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.10G>T (p.Val4Leu)	single nucleotide variant	Peutz-Jeghers syndrome [RCV000701189]	Chr19:1206923 [GRCh38] Chr19:1206922 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.888G>T (p.Lys296Asn)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001018455]\|Melanoma, cutaneous malignant, susceptibility to, 1 [RCV003459660]\|Peutz-Jeghers syndrome [RCV000685112]	Chr19:1221974 [GRCh38] Chr19:1221973 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.730A>C (p.Thr244Pro)	single nucleotide variant	Peutz-Jeghers syndrome [RCV000700248]	Chr19:1220713 [GRCh38] Chr19:1220712 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.748A>G (p.Thr250Ala)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001026488]\|Peutz-Jeghers syndrome [RCV000686238]	Chr19:1221226 [GRCh38] Chr19:1221225 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1040C>T (p.Ala347Val)	single nucleotide variant	Familial ovarian cancer [RCV001356397]\|Hereditary cancer-predisposing syndrome [RCV000775312]\|Peutz-Jeghers syndrome [RCV000700925]\|not provided [RCV002286784]\|not specified [RCV002222607]	Chr19:1223104 [GRCh38] Chr19:1223103 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.410A>G (p.Gln137Arg)	single nucleotide variant	Peutz-Jeghers syndrome [RCV000689708]	Chr19:1219359 [GRCh38] Chr19:1219358 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1071G>A (p.Glu357=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002422489]\|Peutz-Jeghers syndrome [RCV000689824]	Chr19:1223135 [GRCh38] Chr19:1223134 [GRCh37] Chr19:19p13.3	likely benign\|uncertain significance
NM_000455.5(STK11):c.785A>G (p.Lys262Arg)	single nucleotide variant	Peutz-Jeghers syndrome [RCV000689966]	Chr19:1221263 [GRCh38] Chr19:1221262 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.157G>A (p.Asp53Asn)	single nucleotide variant	Peutz-Jeghers syndrome [RCV000692857]	Chr19:1207070 [GRCh38] Chr19:1207069 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.82dup (p.Arg28fs)	duplication	Peutz-Jeghers syndrome [RCV000709570]	Chr19:1206993..1206994 [GRCh38] Chr19:1206992..1206993 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.188T>C (p.Val63Ala)	single nucleotide variant	Peutz-Jeghers syndrome [RCV000709571]	Chr19:1207101 [GRCh38] Chr19:1207100 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.217T>C (p.Cys73Arg)	single nucleotide variant	Peutz-Jeghers syndrome [RCV000709572]	Chr19:1207130 [GRCh38] Chr19:1207129 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.375-13C>T	single nucleotide variant	Peutz-Jeghers syndrome [RCV000709573]	Chr19:1219311 [GRCh38] Chr19:1219310 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1128G>T (p.Glu376Asp)	single nucleotide variant	Peutz-Jeghers syndrome [RCV000709575]	Chr19:1226473 [GRCh38] Chr19:1226472 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1108+6T>C	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003584725]\|Peutz-Jeghers syndrome [RCV000701806]	Chr19:1223178 [GRCh38] Chr19:1223177 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.211A>C (p.Thr71Pro)	single nucleotide variant	Peutz-Jeghers syndrome [RCV000695026]	Chr19:1207124 [GRCh38] Chr19:1207123 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.105_106del (p.Tyr36fs)	deletion	Peutz-Jeghers syndrome [RCV000707328]	Chr19:1207017..1207018 [GRCh38] Chr19:1207016..1207017 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.113C>T (p.Pro38Leu)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000777884]\|Peutz-Jeghers syndrome [RCV000691132]\|not specified [RCV003320207]	Chr19:1207026 [GRCh38] Chr19:1207025 [GRCh37] Chr19:19p13.3	uncertain significance
NC_000019.10:g.(?_1206908)_(1221346_?)del	deletion	Peutz-Jeghers syndrome [RCV000707852]	Chr19:1206908..1221346 [GRCh38] Chr19:1206907..1221345 [GRCh37] Chr19:19p13.3	pathogenic
NC_000019.10:g.(?_1206904)_(1226657_?)del	deletion	Peutz-Jeghers syndrome [RCV000707940]	Chr19:1206904..1226657 [GRCh38] Chr19:1206903..1226656 [GRCh37] Chr19:19p13.3	pathogenic
NC_000019.10:g.(?_1221939)_(1222016_?)del	deletion	Peutz-Jeghers syndrome [RCV000708064]	Chr19:1221939..1222016 [GRCh38] Chr19:1221938..1222015 [GRCh37] Chr19:19p13.3	pathogenic
NC_000019.9:g.(?_1206903)_(1207212_?)dup	duplication	Peutz-Jeghers syndrome [RCV000708096]	Chr19:1206904..1207213 [GRCh38] Chr19:1206903..1207212 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1069G>C (p.Glu357Gln)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002406561]\|Peutz-Jeghers syndrome [RCV000691840]	Chr19:1223133 [GRCh38] Chr19:1223132 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.300A>C (p.Gln100His)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002440421]\|Peutz-Jeghers syndrome [RCV000685676]	Chr19:1218426 [GRCh38] Chr19:1218425 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.721G>T (p.Ala241Ser)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002369917]\|Peutz-Jeghers syndrome [RCV000699987]\|not provided [RCV001558092]\|not specified [RCV001800856]	Chr19:1220704 [GRCh38] Chr19:1220703 [GRCh37] Chr19:19p13.3	likely benign\|uncertain significance
NM_000455.5(STK11):c.659A>G (p.Gln220Arg)	single nucleotide variant	Peutz-Jeghers syndrome [RCV000689377]	Chr19:1220642 [GRCh38] Chr19:1220641 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.598G>A (p.Ala200Thr)	single nucleotide variant	Peutz-Jeghers syndrome [RCV000692139]	Chr19:1220581 [GRCh38] Chr19:1220580 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.121A>C (p.Lys41Gln)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001010400]\|Peutz-Jeghers syndrome [RCV000689479]	Chr19:1207034 [GRCh38] Chr19:1207033 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1079T>C (p.Ile360Thr)	single nucleotide variant	Peutz-Jeghers syndrome [RCV000699013]	Chr19:1223143 [GRCh38] Chr19:1223142 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.473G>A (p.Cys158Tyr)	single nucleotide variant	Peutz-Jeghers syndrome [RCV000692416]	Chr19:1220381 [GRCh38] Chr19:1220380 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.133C>G (p.Leu45Val)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000708762]\|Peutz-Jeghers syndrome [RCV003117510]	Chr19:1207046 [GRCh38] Chr19:1207045 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.229G>A (p.Val77Ile)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003362915]\|Melanoma, cutaneous malignant, susceptibility to, 1 [RCV003465628]\|Peutz-Jeghers syndrome [RCV000703826]	Chr19:1207142 [GRCh38] Chr19:1207141 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.463G>C (p.Gly155Arg)	single nucleotide variant	Melanoma, cutaneous malignant, susceptibility to, 1 [RCV003465638]\|Peutz-Jeghers syndrome [RCV000706630]	Chr19:1219412 [GRCh38] Chr19:1219411 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1179C>G (p.Asn393Lys)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001010156]\|Peutz-Jeghers syndrome [RCV000694814]	Chr19:1226524 [GRCh38] Chr19:1226523 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.16+8_16+17dup	duplication	Peutz-Jeghers syndrome [RCV000709576]	Chr19:1226665..1226666 [GRCh38] Chr19:1226664..1226665 [GRCh37] Chr19:19p13.3	likely pathogenic\|uncertain significance
NM_000455.5(STK11):c.406A>G (p.Met136Val)	single nucleotide variant	Peutz-Jeghers syndrome [RCV000701965]	Chr19:1219355 [GRCh38] Chr19:1219354 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.724G>A (p.Gly242Arg)	single nucleotide variant	Peutz-Jeghers syndrome [RCV000690196]	Chr19:1220707 [GRCh38] Chr19:1220706 [GRCh37] Chr19:19p13.3	pathogenic\|uncertain significance
NM_000455.5(STK11):c.1109G>A (p.Gly370Glu)	single nucleotide variant	Peutz-Jeghers syndrome [RCV000690294]	Chr19:1226454 [GRCh38] Chr19:1226453 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.31A>T (p.Met11Leu)	single nucleotide variant	Colon cancer [RCV002287438]\|Hereditary cancer-predisposing syndrome [RCV001019148]\|Peutz-Jeghers syndrome [RCV000695432]\|not specified [RCV002268255]	Chr19:1206944 [GRCh38] Chr19:1206943 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.58G>A (p.Val20Met)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002352225]\|Peutz-Jeghers syndrome [RCV000707650]	Chr19:1206971 [GRCh38] Chr19:1206970 [GRCh37] Chr19:19p13.3	uncertain significance
NC_000019.9:g.(?_852319)_(1226656_?)dup	duplication	Peutz-Jeghers syndrome [RCV000707897]	Chr19:852319..1226656 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1182C>T (p.Gly394=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001010191]\|Peutz-Jeghers syndrome [RCV000696421]\|not provided [RCV002462036]	Chr19:1226527 [GRCh38] Chr19:1226526 [GRCh37] Chr19:19p13.3	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_000455.5(STK11):c.528C>A (p.Asp176Glu)	single nucleotide variant	Peutz-Jeghers syndrome [RCV000705710]	Chr19:1220436 [GRCh38] Chr19:1220435 [GRCh37] Chr19:19p13.3	uncertain significance
NC_000019.9:g.(?_852323)_(1226652_?)del	deletion	Peutz-Jeghers syndrome [RCV000708221]	Chr19:852323..1226652 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.541_543delinsGAA (p.Asn181Glu)	indel	Hereditary cancer-predisposing syndrome [RCV002343505]\|Peutz-Jeghers syndrome [RCV000698721]	Chr19:1220449..1220451 [GRCh38] Chr19:1220448..1220450 [GRCh37] Chr19:19p13.3	likely pathogenic\|uncertain significance
NM_000455.5(STK11):c.799A>G (p.Ile267Val)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001027028]\|Melanoma, cutaneous malignant, susceptibility to, 1 [RCV003459677]\|Peutz-Jeghers syndrome [RCV000689117]	Chr19:1221277 [GRCh38] Chr19:1221276 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.629G>T (p.Cys210Phe)	single nucleotide variant	Peutz-Jeghers syndrome [RCV000705929]	Chr19:1220612 [GRCh38] Chr19:1220611 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.291-1G>T	single nucleotide variant	Peutz-Jeghers syndrome [RCV000696998]\|not provided [RCV001777175]	Chr19:1218416 [GRCh38] Chr19:1218415 [GRCh37] Chr19:19p13.3	pathogenic\|not provided
NM_000455.5(STK11):c.884C>T (p.Ala295Val)	single nucleotide variant	Peutz-Jeghers syndrome [RCV000697072]	Chr19:1221970 [GRCh38] Chr19:1221969 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.290+2_290+4del	deletion	Hereditary cancer-predisposing syndrome [RCV001016914]\|Peutz-Jeghers syndrome [RCV000689283]	Chr19:1207205..1207207 [GRCh38] Chr19:1207204..1207206 [GRCh37] Chr19:19p13.3	likely pathogenic
NM_000455.5(STK11):c.449T>A (p.Val150Glu)	single nucleotide variant	Peutz-Jeghers syndrome [RCV000706179]	Chr19:1219398 [GRCh38] Chr19:1219397 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1255_1256insTGAT (p.Ser419fs)	insertion	Peutz-Jeghers syndrome [RCV000697074]	Chr19:1226599..1226600 [GRCh38] Chr19:1226598..1226599 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.737A>G (p.Tyr246Cys)	single nucleotide variant	Peutz-Jeghers syndrome [RCV000701363]	Chr19:1221215 [GRCh38] Chr19:1221214 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.374+272G>A	single nucleotide variant	not provided [RCV001548474]	Chr19:1218772 [GRCh38] Chr19:1218771 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.375-194G>A	single nucleotide variant	not provided [RCV001643756]	Chr19:1219130 [GRCh38] Chr19:1219129 [GRCh37] Chr19:19p13.3	benign
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3	copy number gain	not provided [RCV000752444]	Chr19:260912..59097160 [GRCh37] Chr19:19p13.3-q13.43	pathogenic
GRCh37/hg19 19p13.3(chr19:1119019-1451274)x1	copy number loss	not provided [RCV000739953]	Chr19:1119019..1451274 [GRCh37] Chr19:19p13.3	pathogenic
GRCh37/hg19 19p13.3(chr19:1127876-1228644)x1	copy number loss	not provided [RCV000739957]	Chr19:1127876..1228644 [GRCh37] Chr19:19p13.3	benign
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3	copy number gain	not provided [RCV000752439]	Chr19:68029..59110290 [GRCh37] Chr19:19p13.3-q13.43	pathogenic
NM_000455.5(STK11):c.-1114_290+1dup	duplication	not provided [RCV001284364]	Chr19:1205798..1205799 [GRCh38] Chr19:1205797..1205798 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.699C>G (p.Gly233=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002372622]\|Peutz-Jeghers syndrome [RCV001395844]	Chr19:1220682 [GRCh38] Chr19:1220681 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.255G>A (p.Leu85=)	single nucleotide variant	Peutz-Jeghers syndrome [RCV001499775]	Chr19:1207168 [GRCh38] Chr19:1207167 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.1108+527C>T	single nucleotide variant	not provided [RCV003312425]	Chr19:1223699 [GRCh38] Chr19:1223698 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.781_788dup (p.Leu263fs)	duplication	not provided [RCV000759360]	Chr19:1221258..1221259 [GRCh38] Chr19:1221257..1221258 [GRCh37] Chr19:19p13.3	likely pathogenic
NM_000455.5(STK11):c.-280C>A	single nucleotide variant	Peutz-Jeghers syndrome [RCV000990121]	Chr19:1206634 [GRCh38] Chr19:1206633 [GRCh37] Chr19:19p13.3	likely benign
NC_000019.10:g.(?_1206914)_(1226647_?)del	deletion	Peutz-Jeghers syndrome [RCV001031938]	Chr19:1206913..1226646 [GRCh37] Chr19:19p13.3	pathogenic
NC_000019.10:g.(?_1218407)_(1222016_?)del	deletion	Peutz-Jeghers syndrome [RCV001032309]	Chr19:1218406..1222015 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.464+290G>A	single nucleotide variant	not provided [RCV001612403]	Chr19:1219703 [GRCh38] Chr19:1219702 [GRCh37] Chr19:19p13.3	benign
GRCh37/hg19 19p13.3(chr19:423160-1429367)x3	copy number gain	not provided [RCV000752449]	Chr19:423160..1429367 [GRCh37] Chr19:19p13.3	uncertain significance
GRCh37/hg19 19p13.3(chr19:1192769-1257027)x4	copy number gain	not provided [RCV000752489]	Chr19:1192769..1257027 [GRCh37] Chr19:19p13.3	benign
GRCh37/hg19 19p13.3(chr19:1199676-1257027)x4	copy number gain	not provided [RCV000752490]	Chr19:1199676..1257027 [GRCh37] Chr19:19p13.3	benign
GRCh37/hg19 19p13.3(chr19:1199676-1271274)x4	copy number gain	not provided [RCV000752491]	Chr19:1199676..1271274 [GRCh37] Chr19:19p13.3	benign
GRCh37/hg19 19p13.3(chr19:1199815-1244170)x4	copy number gain	not provided [RCV000752492]	Chr19:1199815..1244170 [GRCh37] Chr19:19p13.3	benign
GRCh37/hg19 19p13.3(chr19:1200713-1257027)x4	copy number gain	not provided [RCV000752493]	Chr19:1200713..1257027 [GRCh37] Chr19:19p13.3	benign
GRCh37/hg19 19p13.3(chr19:1218523-1257027)x4	copy number gain	not provided [RCV000752494]	Chr19:1218523..1257027 [GRCh37] Chr19:19p13.3	benign
GRCh37/hg19 19p13.3(chr19:1221319-1257027)x4	copy number gain	not provided [RCV000752495]	Chr19:1221319..1257027 [GRCh37] Chr19:19p13.3	benign
NM_000455.5(STK11):c.717G>T (p.Trp239Cys)	single nucleotide variant	not provided [RCV000986039]	Chr19:1220700 [GRCh38] Chr19:1220699 [GRCh37] Chr19:19p13.3	likely pathogenic
NM_000455.5(STK11):c.69C>T (p.Asp23=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001025895]\|Peutz-Jeghers syndrome [RCV000945074]	Chr19:1206982 [GRCh38] Chr19:1206981 [GRCh37] Chr19:19p13.3	likely benign\|conflicting interpretations of pathogenicity
NM_000455.5(STK11):c.327T>C (p.Asn109=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001019636]\|Peutz-Jeghers syndrome [RCV000876645]\|not provided [RCV001709696]	Chr19:1218453 [GRCh38] Chr19:1218452 [GRCh37] Chr19:19p13.3	benign\|likely benign
NM_000455.5(STK11):c.456G>A (p.Gln152=)	single nucleotide variant	Peutz-Jeghers syndrome [RCV001473351]	Chr19:1219405 [GRCh38] Chr19:1219404 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.863-8C>T	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001176140]\|Peutz-Jeghers syndrome [RCV001478697]	Chr19:1221941 [GRCh38] Chr19:1221940 [GRCh37] Chr19:19p13.3	likely benign\|uncertain significance
NM_000455.5(STK11):c.921-8G>T	single nucleotide variant	Peutz-Jeghers syndrome [RCV001506300]	Chr19:1222977 [GRCh38] Chr19:1222976 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.291-9C>T	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001180437]\|Peutz-Jeghers syndrome [RCV001449290]	Chr19:1218408 [GRCh38] Chr19:1218407 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.423C>T (p.Asp141=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003169396]\|Peutz-Jeghers syndrome [RCV001402875]	Chr19:1219372 [GRCh38] Chr19:1219371 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.216G>A (p.Leu72=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003363009]\|Peutz-Jeghers syndrome [RCV001493087]	Chr19:1207129 [GRCh38] Chr19:1207128 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.834T>C (p.Cys278=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001183184]\|Peutz-Jeghers syndrome [RCV001503767]	Chr19:1221312 [GRCh38] Chr19:1221311 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.975C>T (p.Ser325=)	single nucleotide variant	Peutz-Jeghers syndrome [RCV001434613]	Chr19:1223039 [GRCh38] Chr19:1223038 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.720G>T (p.Ser240=)	single nucleotide variant	Peutz-Jeghers syndrome [RCV001452495]	Chr19:1220703 [GRCh38] Chr19:1220702 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.57G>T (p.Ser19=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002354887]\|Peutz-Jeghers syndrome [RCV000983233]	Chr19:1206970 [GRCh38] Chr19:1206969 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.1131C>T (p.Ala377=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001017406]\|Peutz-Jeghers syndrome [RCV001405596]	Chr19:1226476 [GRCh38] Chr19:1226475 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.734+8C>T	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001181032]\|Peutz-Jeghers syndrome [RCV000921423]	Chr19:1220725 [GRCh38] Chr19:1220724 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.607C>T (p.Pro203Ser)	single nucleotide variant	Peutz-Jeghers syndrome [RCV001040469]	Chr19:1220590 [GRCh38] Chr19:1220589 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.289A>T (p.Lys97Ter)	single nucleotide variant	Peutz-Jeghers syndrome [RCV001057998]	Chr19:1207202 [GRCh38] Chr19:1207201 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.1065C>G (p.Asp355Glu)	single nucleotide variant	Peutz-Jeghers syndrome [RCV001061082]	Chr19:1223129 [GRCh38] Chr19:1223128 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.585G>A (p.Leu195=)	single nucleotide variant	Peutz-Jeghers syndrome [RCV001049091]	Chr19:1220493 [GRCh38] Chr19:1220492 [GRCh37] Chr19:19p13.3	likely benign\|uncertain significance
NM_000455.5(STK11):c.173G>A (p.Gly58Asp)	single nucleotide variant	Peutz-Jeghers syndrome [RCV001036911]	Chr19:1207086 [GRCh38] Chr19:1207085 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.374+6del	deletion	Peutz-Jeghers syndrome [RCV001052878]\|not specified [RCV001192854]	Chr19:1218505 [GRCh38] Chr19:1218504 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.881C>T (p.Pro294Leu)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002374898]\|Peutz-Jeghers syndrome [RCV001049299]	Chr19:1221967 [GRCh38] Chr19:1221966 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.725G>A (p.Gly242Glu)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002386321]\|Peutz-Jeghers syndrome [RCV000780764]\|not provided [RCV000759359]	Chr19:1220708 [GRCh38] Chr19:1220707 [GRCh37] Chr19:19p13.3	likely pathogenic\|uncertain significance
NM_000455.5(STK11):c.1042G>A (p.Asp348Asn)	single nucleotide variant	Peutz-Jeghers syndrome [RCV001061490]	Chr19:1223106 [GRCh38] Chr19:1223105 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.206C>T (p.Ser69Leu)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001181514]\|Peutz-Jeghers syndrome [RCV001061780]	Chr19:1207119 [GRCh38] Chr19:1207118 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.233A>G (p.Lys78Arg)	single nucleotide variant	Peutz-Jeghers syndrome [RCV001035408]	Chr19:1207146 [GRCh38] Chr19:1207145 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.61G>T (p.Gly21Cys)	single nucleotide variant	Peutz-Jeghers syndrome [RCV001039056]	Chr19:1206974 [GRCh38] Chr19:1206973 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.396C>G (p.Cys132Trp)	single nucleotide variant	Peutz-Jeghers syndrome [RCV001049876]\|not provided [RCV003478675]	Chr19:1219345 [GRCh38] Chr19:1219344 [GRCh37] Chr19:19p13.3	likely pathogenic\|uncertain significance
NM_000455.5(STK11):c.1157T>C (p.Leu386Pro)	single nucleotide variant	Peutz-Jeghers syndrome [RCV001053656]	Chr19:1226502 [GRCh38] Chr19:1226501 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.445C>T (p.Pro149Ser)	single nucleotide variant	Peutz-Jeghers syndrome [RCV001047030]	Chr19:1219394 [GRCh38] Chr19:1219393 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.607C>G (p.Pro203Ala)	single nucleotide variant	Peutz-Jeghers syndrome [RCV001048329]	Chr19:1220590 [GRCh38] Chr19:1220589 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.862+5G>T	single nucleotide variant	Peutz-Jeghers syndrome [RCV001052745]	Chr19:1221345 [GRCh38] Chr19:1221344 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.464+4C>A	single nucleotide variant	Peutz-Jeghers syndrome [RCV001072101]	Chr19:1219417 [GRCh38] Chr19:1219416 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.110A>G (p.Gln37Arg)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000772434]\|Peutz-Jeghers syndrome [RCV001809799]	Chr19:1207023 [GRCh38] Chr19:1207022 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.-16G>A	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000772590]	Chr19:1206898 [GRCh38] Chr19:1206897 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.195G>C (p.Glu65Asp)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000772837]	Chr19:1207108 [GRCh38] Chr19:1207107 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.953C>T (p.Ala318Val)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000772860]	Chr19:1223017 [GRCh38] Chr19:1223016 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.854T>G (p.Leu285Arg)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000772942]\|Peutz-Jeghers syndrome [RCV002534043]	Chr19:1221332 [GRCh38] Chr19:1221331 [GRCh37] Chr19:19p13.3	likely pathogenic\|uncertain significance
NM_000455.5(STK11):c.1108+7C>G	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000773029]	Chr19:1223179 [GRCh38] Chr19:1223178 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.504T>C (p.His168=)	single nucleotide variant	Familial ovarian cancer [RCV001354800]\|Hereditary cancer-predisposing syndrome [RCV000773056]\|Peutz-Jeghers syndrome [RCV000935513]	Chr19:1220412 [GRCh38] Chr19:1220411 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.1108+12G>C	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000773219]\|Peutz-Jeghers syndrome [RCV002067263]	Chr19:1223184 [GRCh38] Chr19:1223183 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.846C>T (p.Leu282=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000773491]\|Peutz-Jeghers syndrome [RCV000941686]	Chr19:1221324 [GRCh38] Chr19:1221323 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.291-12_291-10dup	duplication	Hereditary cancer-predisposing syndrome [RCV000773590]	Chr19:1218404..1218405 [GRCh38] Chr19:1218403..1218404 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.1013T>C (p.Val338Ala)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000773690]\|Peutz-Jeghers syndrome [RCV002534089]\|not provided [RCV003442063]	Chr19:1223077 [GRCh38] Chr19:1223076 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1077C>G (p.Asp359Glu)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000774868]\|Peutz-Jeghers syndrome [RCV001362546]\|not specified [RCV003321730]	Chr19:1223141 [GRCh38] Chr19:1223140 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.597+8C>G	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000774870]	Chr19:1220513 [GRCh38] Chr19:1220512 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.890G>A (p.Arg297Lys)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000774875]\|Peutz-Jeghers syndrome [RCV000809778]	Chr19:1221976 [GRCh38] Chr19:1221975 [GRCh37] Chr19:19p13.3	pathogenic\|uncertain significance
NM_000455.5(STK11):c.291-13C>T	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000774877]\|Peutz-Jeghers syndrome [RCV002534163]	Chr19:1218404 [GRCh38] Chr19:1218403 [GRCh37] Chr19:19p13.3	likely benign\|conflicting interpretations of pathogenicity
NM_000455.5(STK11):c.433G>C (p.Glu145Gln)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000773845]\|Peutz-Jeghers syndrome [RCV003617861]	Chr19:1219382 [GRCh38] Chr19:1219381 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.840C>A (p.Pro280=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000773881]\|Peutz-Jeghers syndrome [RCV001464995]	Chr19:1221318 [GRCh38] Chr19:1221317 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.-9G>A	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000775648]\|not specified [RCV003320211]	Chr19:1206905 [GRCh38] Chr19:1206904 [GRCh37] Chr19:19p13.3	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_000455.5(STK11):c.174C>T (p.Gly58=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000775649]	Chr19:1207087 [GRCh38] Chr19:1207086 [GRCh37] Chr19:19p13.3	likely benign\|uncertain significance
NM_000455.5(STK11):c.598-20G>A	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000775652]\|Peutz-Jeghers syndrome [RCV002067323]	Chr19:1220561 [GRCh38] Chr19:1220560 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.858G>A (p.Leu286=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000775658]\|Peutz-Jeghers syndrome [RCV001495882]	Chr19:1221336 [GRCh38] Chr19:1221335 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.1129G>A (p.Ala377Thr)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000775662]\|Peutz-Jeghers syndrome [RCV001302122]	Chr19:1226474 [GRCh38] Chr19:1226473 [GRCh37] Chr19:19p13.3	conflicting interpretations of pathogenicity\|uncertain significance
NM_000455.5(STK11):c.1199T>A (p.Leu400Gln)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000775665]\|Peutz-Jeghers syndrome [RCV000801087]\|not provided [RCV003442066]	Chr19:1226544 [GRCh38] Chr19:1226543 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.598-10A>G	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000773736]	Chr19:1220571 [GRCh38] Chr19:1220570 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.576C>T (p.Ile192=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000773880]\|Peutz-Jeghers syndrome [RCV001441084]\|not provided [RCV001585700]	Chr19:1220484 [GRCh38] Chr19:1220483 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.921-18G>A	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000774249]	Chr19:1222967 [GRCh38] Chr19:1222966 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.465-5C>A	single nucleotide variant	not specified [RCV000781890]	Chr19:1220368 [GRCh38] Chr19:1220367 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.425G>A (p.Ser142Asn)	single nucleotide variant	Peutz-Jeghers syndrome [RCV000797412]\|not specified [RCV000781893]	Chr19:1219374 [GRCh38] Chr19:1219373 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1248G>C (p.Lys416Asn)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002388411]\|Peutz-Jeghers syndrome [RCV001059114]\|not specified [RCV000781894]	Chr19:1226593 [GRCh38] Chr19:1226592 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.662C>T (p.Pro221Leu)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000776676]\|Peutz-Jeghers syndrome [RCV000803358]	Chr19:1220645 [GRCh38] Chr19:1220644 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.301C>T (p.Leu101=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000776696]\|Peutz-Jeghers syndrome [RCV001497852]	Chr19:1218427 [GRCh38] Chr19:1218426 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.735-13C>T	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000776767]\|Peutz-Jeghers syndrome [RCV003507312]\|not specified [RCV002268280]	Chr19:1221200 [GRCh38] Chr19:1221199 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.152dup (p.Met51fs)	duplication	Peutz-Jeghers syndrome [RCV000778089]	Chr19:1207064..1207065 [GRCh38] Chr19:1207063..1207064 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.-4C>T	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000771692]\|Peutz-Jeghers syndrome [RCV000990125]	Chr19:1206910 [GRCh38] Chr19:1206909 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1194G>C (p.Ala398=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000772439]\|Peutz-Jeghers syndrome [RCV002536629]	Chr19:1226539 [GRCh38] Chr19:1226538 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.290+8T>C	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000776850]	Chr19:1207211 [GRCh38] Chr19:1207210 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.335A>G (p.Gln112Arg)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000776954]	Chr19:1218461 [GRCh38] Chr19:1218460 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.135C>T (p.Leu45=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000776970]\|Peutz-Jeghers syndrome [RCV001415881]	Chr19:1207048 [GRCh38] Chr19:1207047 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.862+16C>G	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000777076]\|Peutz-Jeghers syndrome [RCV002535592]	Chr19:1221356 [GRCh38] Chr19:1221355 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.375-11T>C	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000771342]\|Peutz-Jeghers syndrome [RCV002061049]	Chr19:1219313 [GRCh38] Chr19:1219312 [GRCh37] Chr19:19p13.3	likely benign\|uncertain significance
NM_000455.5(STK11):c.1053G>T (p.Glu351Asp)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000777129]	Chr19:1223117 [GRCh38] Chr19:1223116 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.979G>A (p.Asp327Asn)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000777149]\|Peutz-Jeghers syndrome [RCV001809800]	Chr19:1223043 [GRCh38] Chr19:1223042 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.943C>G (p.Pro315Ala)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000777362]\|Peutz-Jeghers syndrome [RCV001869121]	Chr19:1223007 [GRCh38] Chr19:1223006 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.374+13G>A	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000777391]\|Peutz-Jeghers syndrome [RCV002068532]	Chr19:1218513 [GRCh38] Chr19:1218512 [GRCh37] Chr19:19p13.3	likely benign\|uncertain significance
NM_000455.5(STK11):c.307A>G (p.Arg103Gly)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000777404]\|Peutz-Jeghers syndrome [RCV001856143]	Chr19:1218433 [GRCh38] Chr19:1218432 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.928C>T (p.Arg310Trp)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000771627]\|Peutz-Jeghers syndrome [RCV001869078]	Chr19:1222992 [GRCh38] Chr19:1222991 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.735-12C>T	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000777463]\|Peutz-Jeghers syndrome [RCV002068534]	Chr19:1221201 [GRCh38] Chr19:1221200 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.291-3del	deletion	Hereditary cancer-predisposing syndrome [RCV000777530]	Chr19:1218412 [GRCh38] Chr19:1218411 [GRCh37] Chr19:19p13.3	uncertain significance
NC_000019.9:g.(?_1206903)_(1226656_?)dup	duplication	Peutz-Jeghers syndrome [RCV000817269]	Chr19:1206904..1226657 [GRCh38] Chr19:1206903..1226656 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.291-15T>C	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000772226]	Chr19:1218402 [GRCh38] Chr19:1218401 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.71C>G (p.Thr24Arg)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000772378]\|Peutz-Jeghers syndrome [RCV001295486]	Chr19:1206984 [GRCh38] Chr19:1206983 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.402T>C (p.Cys134=)	single nucleotide variant	Peutz-Jeghers syndrome [RCV001439498]	Chr19:1219351 [GRCh38] Chr19:1219350 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.1197_1198delinsAT (p.Gln399_Leu400=)	indel	Peutz-Jeghers syndrome [RCV000981453]	Chr19:1226542..1226543 [GRCh38] Chr19:1226541..1226542 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.645C>G (p.Gly215=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001025287]\|Peutz-Jeghers syndrome [RCV001425222]	Chr19:1220628 [GRCh38] Chr19:1220627 [GRCh37] Chr19:19p13.3	likely benign
NC_000019.9:g.(?_852323)_(1222011_?)del	deletion	Peutz-Jeghers syndrome [RCV000708465]	Chr19:852323..1222011 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.375-2A>G	single nucleotide variant	Peutz-Jeghers syndrome [RCV001055291]	Chr19:1219322 [GRCh38] Chr19:1219321 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.829G>A (p.Asp277Asn)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001190034]\|Peutz-Jeghers syndrome [RCV001062281]\|not provided [RCV003324815]	Chr19:1221307 [GRCh38] Chr19:1221306 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.290+13T>G	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000772399]\|Peutz-Jeghers syndrome [RCV002534019]	Chr19:1207216 [GRCh38] Chr19:1207215 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.1221G>C (p.Glu407Asp)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV000774151]\|Peutz-Jeghers syndrome [RCV001873138]	Chr19:1226566 [GRCh38] Chr19:1226565 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.982_983del (p.Thr328fs)	microsatellite	Hereditary cancer-predisposing syndrome [RCV000772564]	Chr19:1223044..1223045 [GRCh38] Chr19:1223043..1223044 [GRCh37] Chr19:19p13.3	likely pathogenic
NM_000455.5(STK11):c.1239T>C (p.Pro413=)	single nucleotide variant	Peutz-Jeghers syndrome [RCV000860553]	Chr19:1226584 [GRCh38] Chr19:1226583 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.1152G>C (p.Arg384=)	single nucleotide variant	Peutz-Jeghers syndrome [RCV001444035]	Chr19:1226497 [GRCh38] Chr19:1226496 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.204C>T (p.Asp68=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001014238]\|Peutz-Jeghers syndrome [RCV001495707]	Chr19:1207117 [GRCh38] Chr19:1207116 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.734+8C>A	single nucleotide variant	Peutz-Jeghers syndrome [RCV001415827]	Chr19:1220725 [GRCh38] Chr19:1220724 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.863-7T>C	single nucleotide variant	Peutz-Jeghers syndrome [RCV001498337]	Chr19:1221942 [GRCh38] Chr19:1221941 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.375-8C>T	single nucleotide variant	Peutz-Jeghers syndrome [RCV000941930]	Chr19:1219316 [GRCh38] Chr19:1219315 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.598-4A>G	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001024748]\|Peutz-Jeghers syndrome [RCV000982050]	Chr19:1220577 [GRCh38] Chr19:1220576 [GRCh37] Chr19:19p13.3	likely benign\|uncertain significance
NM_000455.5(STK11):c.384G>C (p.Val128=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002363488]\|Peutz-Jeghers syndrome [RCV000975904]\|not provided [RCV003478597]	Chr19:1219333 [GRCh38] Chr19:1219332 [GRCh37] Chr19:19p13.3	likely benign\|uncertain significance
NM_000455.5(STK11):c.714C>T (p.Ile238=)	single nucleotide variant	Peutz-Jeghers syndrome [RCV001451674]	Chr19:1220697 [GRCh38] Chr19:1220696 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.516T>C (p.Ile172=)	single nucleotide variant	Peutz-Jeghers syndrome [RCV001438201]	Chr19:1220424 [GRCh38] Chr19:1220423 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.693C>T (p.Phe231=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001184250]\|Peutz-Jeghers syndrome [RCV001085136]\|not provided [RCV000759358]	Chr19:1220676 [GRCh38] Chr19:1220675 [GRCh37] Chr19:19p13.3	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_000455.5(STK11):c.1109-7C>T	single nucleotide variant	Peutz-Jeghers syndrome [RCV001482880]	Chr19:1226447 [GRCh38] Chr19:1226446 [GRCh37] Chr19:19p13.3	likely benign
GRCh37/hg19 19p13.3(chr19:260911-1319319)	copy number loss	Peutz-Jeghers syndrome [RCV002280635]	Chr19:260911..1319319 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.1247A>G (p.Lys416Arg)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001010536]\|Peutz-Jeghers syndrome [RCV000804493]\|not provided [RCV001284240]	Chr19:1226592 [GRCh38] Chr19:1226591 [GRCh37] Chr19:19p13.3	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_000455.5(STK11):c.1108G>C (p.Gly370Arg)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002458412]\|Peutz-Jeghers syndrome [RCV000793314]\|not provided [RCV003478490]	Chr19:1223172 [GRCh38] Chr19:1223171 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1253G>A (p.Cys418Tyr)	single nucleotide variant	Peutz-Jeghers syndrome [RCV000814312]	Chr19:1226598 [GRCh38] Chr19:1226597 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.625A>C (p.Thr209Pro)	single nucleotide variant	Peutz-Jeghers syndrome [RCV000797034]	Chr19:1220608 [GRCh38] Chr19:1220607 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1173T>C (p.Cys391=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003353069]\|Peutz-Jeghers syndrome [RCV001500642]\|not provided [RCV000835854]	Chr19:1226518 [GRCh38] Chr19:1226517 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.508C>G (p.Gln170Glu)	single nucleotide variant	Peutz-Jeghers syndrome [RCV000793992]	Chr19:1220416 [GRCh38] Chr19:1220415 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.375-3C>T	single nucleotide variant	Peutz-Jeghers syndrome [RCV000814960]	Chr19:1219321 [GRCh38] Chr19:1219320 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.*17-87C>T	single nucleotide variant	not provided [RCV000836104]	Chr19:1227506 [GRCh38] Chr19:1227505 [GRCh37] Chr19:19p13.3	benign
NM_000455.5(STK11):c.375G>A (p.Met125Ile)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001021067]\|Peutz-Jeghers syndrome [RCV000816344]	Chr19:1219324 [GRCh38] Chr19:1219323 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.196G>A (p.Val66Met)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001524349]\|Peutz-Jeghers syndrome [RCV000791472]	Chr19:1207109 [GRCh38] Chr19:1207108 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1229C>A (p.Ala410Asp)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002363118]\|Melanoma, cutaneous malignant, susceptibility to, 1 [RCV003461225]\|Peutz-Jeghers syndrome [RCV000814590]	Chr19:1226574 [GRCh38] Chr19:1226573 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.66G>A (p.Met22Ile)	single nucleotide variant	Peutz-Jeghers syndrome [RCV000801710]	Chr19:1206979 [GRCh38] Chr19:1206978 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.684G>A (p.Leu228=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001025726]\|Peutz-Jeghers syndrome [RCV000871473]	Chr19:1220667 [GRCh38] Chr19:1220666 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.379A>G (p.Met127Val)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001021171]\|Peutz-Jeghers syndrome [RCV000800341]	Chr19:1219328 [GRCh38] Chr19:1219327 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.176C>T (p.Ser59Phe)	single nucleotide variant	Peutz-Jeghers syndrome [RCV000818544]	Chr19:1207089 [GRCh38] Chr19:1207088 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.39G>A (p.Thr13=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002325555]\|Peutz-Jeghers syndrome [RCV000803867]	Chr19:1206952 [GRCh38] Chr19:1206951 [GRCh37] Chr19:19p13.3	likely benign\|uncertain significance
NM_000455.5(STK11):c.-551C>T	single nucleotide variant	Peutz-Jeghers syndrome [RCV000990120]	Chr19:1206363 [GRCh38] Chr19:1206362 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.83G>A (p.Arg28His)	single nucleotide variant	Peutz-Jeghers syndrome [RCV000792451]	Chr19:1206996 [GRCh38] Chr19:1206995 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.498C>G (p.Tyr166Ter)	single nucleotide variant	Peutz-Jeghers syndrome [RCV000818713]	Chr19:1220406 [GRCh38] Chr19:1220405 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.920+9C>A	single nucleotide variant	Peutz-Jeghers syndrome [RCV001423444]	Chr19:1222015 [GRCh38] Chr19:1222014 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.399G>T (p.Val133=)	single nucleotide variant	Peutz-Jeghers syndrome [RCV000976921]	Chr19:1219348 [GRCh38] Chr19:1219347 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.17C>G (p.Pro6Arg)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001013222]\|Peutz-Jeghers syndrome [RCV000802367]	Chr19:1206930 [GRCh38] Chr19:1206929 [GRCh37] Chr19:19p13.3	uncertain significance
NC_000019.9:g.(?_1206903)_(1222015_?)dup	duplication	Peutz-Jeghers syndrome [RCV000812009]	Chr19:1206904..1222016 [GRCh38] Chr19:1206903..1222015 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1151G>T (p.Arg384Leu)	single nucleotide variant	Peutz-Jeghers syndrome [RCV000800204]	Chr19:1226496 [GRCh38] Chr19:1226495 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.16C>A (p.Pro6Thr)	single nucleotide variant	Peutz-Jeghers syndrome [RCV000807083]	Chr19:1206929 [GRCh38] Chr19:1206928 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1093G>A (p.Asp365Asn)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001182547]\|Peutz-Jeghers syndrome [RCV000823045]	Chr19:1223157 [GRCh38] Chr19:1223156 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.404G>C (p.Gly135Ala)	single nucleotide variant	Peutz-Jeghers syndrome [RCV000807135]	Chr19:1219353 [GRCh38] Chr19:1219352 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.511G>A (p.Gly171Ser)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001023575]\|Peutz-Jeghers syndrome [RCV000801323]	Chr19:1220419 [GRCh38] Chr19:1220418 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.920+195C>T	single nucleotide variant	not provided [RCV000839495]	Chr19:1222201 [GRCh38] Chr19:1222200 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.4G>C (p.Glu2Gln)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002257967]\|Peutz-Jeghers syndrome [RCV000804942]	Chr19:1206917 [GRCh38] Chr19:1206916 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.123G>T (p.Lys41Asn)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002256528]\|Peutz-Jeghers syndrome [RCV000804943]	Chr19:1207036 [GRCh38] Chr19:1207035 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.862+199C>A	single nucleotide variant	not provided [RCV000836637]	Chr19:1221539 [GRCh38] Chr19:1221538 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.325A>C (p.Asn109His)	single nucleotide variant	Peutz-Jeghers syndrome [RCV000821891]	Chr19:1218451 [GRCh38] Chr19:1218450 [GRCh37] Chr19:19p13.3	uncertain significance
NC_000019.10:g.(?_1219314)_(1222016_?)del	deletion	Peutz-Jeghers syndrome [RCV000798162]	Chr19:1219314..1222016 [GRCh38] Chr19:1219313..1222015 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.1192_1193delinsTT (p.Ala398Leu)	indel	Hereditary cancer-predisposing syndrome [RCV001010267]\|Peutz-Jeghers syndrome [RCV001317359]	Chr19:1226537..1226538 [GRCh38] Chr19:1226536..1226537 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1058T>G (p.Leu353Arg)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001009759]	Chr19:1223122 [GRCh38] Chr19:1223121 [GRCh37] Chr19:19p13.3	uncertain significance
NC_000019.10:g.(?_1218407)_(1226647_?)del	deletion	Peutz-Jeghers syndrome [RCV001031281]	Chr19:1218406..1226646 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.1236C>A (p.Asn412Lys)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003362962]\|Peutz-Jeghers syndrome [RCV000807401]\|STK11-related condition [RCV003411784]	Chr19:1226581 [GRCh38] Chr19:1226580 [GRCh37] Chr19:19p13.3	uncertain significance
GRCh37/hg19 19p13.3(chr19:260911-4788357)x3	copy number gain	not provided [RCV000846988]	Chr19:260911..4788357 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.291-15_292del	deletion	Peutz-Jeghers syndrome [RCV000810792]	Chr19:1218401..1218417 [GRCh38] Chr19:1218400..1218416 [GRCh37] Chr19:19p13.3	likely pathogenic
NC_000019.9:g.(?_1206903)_(1223181_?)dup	duplication	Peutz-Jeghers syndrome [RCV000796795]	Chr19:1206904..1223182 [GRCh38] Chr19:1206903..1223181 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.182G>A (p.Gly61Asp)	single nucleotide variant	Peutz-Jeghers syndrome [RCV001065836]	Chr19:1207095 [GRCh38] Chr19:1207094 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.762dup (p.Phe255fs)	duplication	Peutz-Jeghers syndrome [RCV000812140]	Chr19:1221236..1221237 [GRCh38] Chr19:1221235..1221236 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.755_758dup (p.Pro254fs)	duplication	Peutz-Jeghers syndrome [RCV000798408]	Chr19:1221232..1221233 [GRCh38] Chr19:1221231..1221232 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.559G>T (p.Gly187Cys)	single nucleotide variant	Peutz-Jeghers syndrome [RCV000821253]	Chr19:1220467 [GRCh38] Chr19:1220466 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1255T>A (p.Ser419Thr)	single nucleotide variant	Peutz-Jeghers syndrome [RCV000810370]	Chr19:1226600 [GRCh38] Chr19:1226599 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.965dup (p.Pro324fs)	duplication	Peutz-Jeghers syndrome [RCV000815167]	Chr19:1223028..1223029 [GRCh38] Chr19:1223027..1223028 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.963del (p.Ile322fs)	deletion	Peutz-Jeghers syndrome [RCV000821780]	Chr19:1223025 [GRCh38] Chr19:1223024 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.967C>T (p.Pro323Ser)	single nucleotide variant	Peutz-Jeghers syndrome [RCV000802395]\|not provided [RCV002473143]	Chr19:1223031 [GRCh38] Chr19:1223030 [GRCh37] Chr19:19p13.3	uncertain significance
NC_000019.10:g.(?_1206904)_(1219423_?)del	deletion	Peutz-Jeghers syndrome [RCV000797480]	Chr19:1206904..1219423 [GRCh38] Chr19:1206903..1219422 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.197_225del (p.Val66fs)	deletion	Peutz-Jeghers syndrome [RCV000796991]	Chr19:1207104..1207132 [GRCh38] Chr19:1207103..1207131 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.920+1del	deletion	Peutz-Jeghers syndrome [RCV000813551]	Chr19:1222006 [GRCh38] Chr19:1222005 [GRCh37] Chr19:19p13.3	pathogenic\|likely pathogenic
NM_000455.5(STK11):c.983C>T (p.Thr328Ile)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001805892]\|Peutz-Jeghers syndrome [RCV000816984]	Chr19:1223047 [GRCh38] Chr19:1223046 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.291G>A (p.Lys97=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003307517]\|Peutz-Jeghers syndrome [RCV000813934]	Chr19:1218417 [GRCh38] Chr19:1218416 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1062_1073del (p.Glu357_Ile360del)	deletion	Peutz-Jeghers syndrome [RCV000811854]	Chr19:1223126..1223137 [GRCh38] Chr19:1223125..1223136 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.940C>T (p.Pro314Ser)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001019285]\|Peutz-Jeghers syndrome [RCV000795455]	Chr19:1223004 [GRCh38] Chr19:1223003 [GRCh37] Chr19:19p13.3	conflicting interpretations of pathogenicity\|uncertain significance
NM_000455.5(STK11):c.679G>A (p.Gly227Ser)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001025659]\|Peutz-Jeghers syndrome [RCV000797980]\|not provided [RCV001800885]	Chr19:1220662 [GRCh38] Chr19:1220661 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.374+254C>T	single nucleotide variant	not provided [RCV000839425]	Chr19:1218754 [GRCh38] Chr19:1218753 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.*17-97A>C	single nucleotide variant	not provided [RCV000836083]	Chr19:1227496 [GRCh38] Chr19:1227495 [GRCh37] Chr19:19p13.3	benign
NM_000455.5(STK11):c.347T>C (p.Val116Ala)	single nucleotide variant	Peutz-Jeghers syndrome [RCV000804710]	Chr19:1218473 [GRCh38] Chr19:1218472 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.983C>G (p.Thr328Ser)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001180638]\|Peutz-Jeghers syndrome [RCV001875994]	Chr19:1223047 [GRCh38] Chr19:1223046 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.922T>C (p.Trp308Arg)	single nucleotide variant	Peutz-Jeghers syndrome [RCV001046337]	Chr19:1222986 [GRCh38] Chr19:1222985 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.392A>G (p.Tyr131Cys)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001021459]	Chr19:1219341 [GRCh38] Chr19:1219340 [GRCh37] Chr19:19p13.3	uncertain significance
NC_000019.10:g.(?_1206914)_(1207213_?)dup	duplication	Peutz-Jeghers syndrome [RCV001032820]	Chr19:1206913..1207212 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.694_695del (p.Ser232fs)	microsatellite	Peutz-Jeghers syndrome [RCV001067108]	Chr19:1220675..1220676 [GRCh38] Chr19:1220674..1220675 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.388G>T (p.Glu130Ter)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001021366]	Chr19:1219337 [GRCh38] Chr19:1219336 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.956C>T (p.Pro319Leu)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001019501]\|Peutz-Jeghers syndrome [RCV001860946]	Chr19:1223020 [GRCh38] Chr19:1223019 [GRCh37] Chr19:19p13.3	likely benign\|uncertain significance
GRCh37/hg19 19p13.3(chr19:260911-3501271)x3	copy number gain	not provided [RCV001007025]	Chr19:260911..3501271 [GRCh37] Chr19:19p13.3	pathogenic
GRCh37/hg19 19p13.3(chr19:260912-4384674)x3	copy number gain	See cases [RCV001007443]	Chr19:260912..4384674 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.261_262dup (p.Ile88fs)	duplication	Peutz-Jeghers syndrome [RCV001043113]	Chr19:1207173..1207174 [GRCh38] Chr19:1207172..1207173 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.-95G>T	single nucleotide variant	Peutz-Jeghers syndrome [RCV000990124]	Chr19:1206819 [GRCh38] Chr19:1206818 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.465-4G>C	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001022849]\|Peutz-Jeghers syndrome [RCV001465068]	Chr19:1220369 [GRCh38] Chr19:1220368 [GRCh37] Chr19:19p13.3	likely benign\|uncertain significance
NM_000455.5(STK11):c.291-19C>A	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001175745]	Chr19:1218398 [GRCh38] Chr19:1218397 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.735-12del	deletion	Hereditary cancer-predisposing syndrome [RCV001176614]	Chr19:1221198 [GRCh38] Chr19:1221197 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.734+20G>C	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001183894]\|Peutz-Jeghers syndrome [RCV003507359]	Chr19:1220737 [GRCh38] Chr19:1220736 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.385A>G (p.Met129Val)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001021306]\|Peutz-Jeghers syndrome [RCV003617880]	Chr19:1219334 [GRCh38] Chr19:1219333 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.375-33C>T	single nucleotide variant	Peutz-Jeghers syndrome [RCV000990127]	Chr19:1219291 [GRCh38] Chr19:1219290 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.202G>T (p.Asp68Tyr)	single nucleotide variant	Peutz-Jeghers syndrome [RCV001213750]	Chr19:1207115 [GRCh38] Chr19:1207114 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.719C>T (p.Ser240Leu)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002375130]\|Melanoma, cutaneous malignant, susceptibility to, 1 [RCV003462677]\|Peutz-Jeghers syndrome [RCV001202671]	Chr19:1220702 [GRCh38] Chr19:1220701 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1292_*15del (p.Lys431fs)	deletion	Peutz-Jeghers syndrome [RCV001233405]	Chr19:1226630..1226655 [GRCh38] Chr19:1226629..1226654 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.60_61delinsTT (p.Gly21Cys)	indel	Peutz-Jeghers syndrome [RCV001217112]	Chr19:1206973..1206974 [GRCh38] Chr19:1206972..1206973 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.509A>C (p.Gln170Pro)	single nucleotide variant	Peutz-Jeghers syndrome [RCV001222958]	Chr19:1220417 [GRCh38] Chr19:1220416 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.290+1G>T	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002436941]\|Peutz-Jeghers syndrome [RCV001239135]	Chr19:1207204 [GRCh38] Chr19:1207203 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.375-7_375-6del	microsatellite	Hereditary cancer-predisposing syndrome [RCV002366011]\|Peutz-Jeghers syndrome [RCV001224608]	Chr19:1219315..1219316 [GRCh38] Chr19:1219314..1219315 [GRCh37] Chr19:19p13.3	likely pathogenic\|uncertain significance
NM_000455.5(STK11):c.1240G>T (p.Ala414Ser)	single nucleotide variant	Peutz-Jeghers syndrome [RCV001217512]\|not provided [RCV001760202]	Chr19:1226585 [GRCh38] Chr19:1226584 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.933del (p.Lys312fs)	deletion	Peutz-Jeghers syndrome [RCV001237781]	Chr19:1222997 [GRCh38] Chr19:1222996 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.314T>G (p.Leu105Ter)	single nucleotide variant	Peutz-Jeghers syndrome [RCV001209963]	Chr19:1218440 [GRCh38] Chr19:1218439 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.144G>T (p.Lys48Asn)	single nucleotide variant	Peutz-Jeghers syndrome [RCV001225160]	Chr19:1207057 [GRCh38] Chr19:1207056 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1088C>G (p.Thr363Ser)	single nucleotide variant	Peutz-Jeghers syndrome [RCV001221717]	Chr19:1223152 [GRCh38] Chr19:1223151 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.69C>A (p.Asp23Glu)	single nucleotide variant	Peutz-Jeghers syndrome [RCV001238401]	Chr19:1206982 [GRCh38] Chr19:1206981 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.863-3_863-2dup	duplication	Hereditary cancer-predisposing syndrome [RCV002375133]\|Peutz-Jeghers syndrome [RCV001203779]	Chr19:1221945..1221946 [GRCh38] Chr19:1221944..1221945 [GRCh37] Chr19:19p13.3	likely benign\|uncertain significance
NM_000455.5(STK11):c.954_956delinsCCAGGTGGGA (p.Pro319fs)	indel	Peutz-Jeghers syndrome [RCV001239930]	Chr19:1223018..1223020 [GRCh38] Chr19:1223017..1223019 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.961C>G (p.Pro321Ala)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002379862]\|Peutz-Jeghers syndrome [RCV001226041]	Chr19:1223025 [GRCh38] Chr19:1223024 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1100C>A (p.Thr367Lys)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003584870]\|Peutz-Jeghers syndrome [RCV001235867]	Chr19:1223164 [GRCh38] Chr19:1223163 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.614_618del (p.Ala205fs)	deletion	Peutz-Jeghers syndrome [RCV001232825]	Chr19:1220595..1220599 [GRCh38] Chr19:1220594..1220598 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.754C>A (p.Leu252Met)	single nucleotide variant	Peutz-Jeghers syndrome [RCV001213222]	Chr19:1221232 [GRCh38] Chr19:1221231 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.233A>C (p.Lys78Thr)	single nucleotide variant	Peutz-Jeghers syndrome [RCV001216535]	Chr19:1207146 [GRCh38] Chr19:1207145 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.418_420del (p.Leu140del)	deletion	Marfanoid habitus and intellectual disability [RCV000850457]\|Peutz-Jeghers syndrome [RCV001050610]	Chr19:1219365..1219367 [GRCh38] Chr19:1219364..1219366 [GRCh37] Chr19:19p13.3	conflicting interpretations of pathogenicity\|uncertain significance
NM_000455.5(STK11):c.930del (p.Lys311fs)	deletion	not provided [RCV000986040]	Chr19:1222993 [GRCh38] Chr19:1222992 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.862+1G>A	single nucleotide variant	Peutz-Jeghers syndrome [RCV003316947]	Chr19:1221341 [GRCh38] Chr19:1221340 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.-474G>A	single nucleotide variant	Peutz-Jeghers syndrome [RCV001122148]	Chr19:1206440 [GRCh38] Chr19:1206439 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.*142G>T	single nucleotide variant	Peutz-Jeghers syndrome [RCV001122345]	Chr19:1227718 [GRCh38] Chr19:1227717 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.*353C>A	single nucleotide variant	Peutz-Jeghers syndrome [RCV001125133]	Chr19:1227929 [GRCh38] Chr19:1227928 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.*634G>A	single nucleotide variant	Peutz-Jeghers syndrome [RCV001128185]	Chr19:1228210 [GRCh38] Chr19:1228209 [GRCh37] Chr19:19p13.3	uncertain significance
NM_001393918.1(CBARP):c.*861C>T	single nucleotide variant	Peutz-Jeghers syndrome [RCV001128188]	Chr19:1228318 [GRCh38] Chr19:1228317 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.25C>T (p.Leu9=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001184869]\|Peutz-Jeghers syndrome [RCV002559876]	Chr19:1206938 [GRCh38] Chr19:1206937 [GRCh37] Chr19:19p13.3	likely benign
NC_000019.9:g.(?_589926)_(1401495_?)dup	duplication	Cerebral creatine deficiency syndrome [RCV001032652]	Chr19:589926..1401495 [GRCh37] Chr19:19p13.3	uncertain significance
NC_000019.9:g.(?_589946)_(2151333_?)dup	duplication	Cyclical neutropenia [RCV003107569]	Chr19:589946..2151333 [GRCh37] Chr19:19p13.3	uncertain significance
NC_000019.10:g.1205638G>T	single nucleotide variant	not provided [RCV001690299]	Chr19:1205638 [GRCh38] Chr19:1205637 [GRCh37] Chr19:19p13.3	benign
NM_000455.5(STK11):c.812del (p.Ser271fs)	deletion	Germ cell tumor of testis [RCV001542798]	Chr19:1221290 [GRCh38] Chr19:1221289 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.465-195C>T	single nucleotide variant	not provided [RCV001636340]	Chr19:1220178 [GRCh38] Chr19:1220177 [GRCh37] Chr19:19p13.3	benign
NM_000455.5(STK11):c.291-197C>T	single nucleotide variant	not provided [RCV001716152]	Chr19:1218220 [GRCh38] Chr19:1218219 [GRCh37] Chr19:19p13.3	benign
NM_000455.5(STK11):c.*16+9C>T	single nucleotide variant	not provided [RCV001680116]	Chr19:1226672 [GRCh38] Chr19:1226671 [GRCh37] Chr19:19p13.3	benign
NM_000455.5(STK11):c.464+139_464+146del	deletion	not provided [RCV001557171]	Chr19:1219547..1219554 [GRCh38] Chr19:1219546..1219553 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.767A>T (p.Glu256Val)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002405238]\|not specified [RCV001553663]	Chr19:1221245 [GRCh38] Chr19:1221244 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.375-99G>T	single nucleotide variant	not provided [RCV001541420]	Chr19:1219225 [GRCh38] Chr19:1219224 [GRCh37] Chr19:19p13.3	benign
NM_000455.5(STK11):c.920+263A>G	single nucleotide variant	not provided [RCV001690104]	Chr19:1222269 [GRCh38] Chr19:1222268 [GRCh37] Chr19:19p13.3	benign
NM_000455.5(STK11):c.290+2T>A	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003293654]\|Peutz-Jeghers syndrome [RCV003507494]	Chr19:1207205 [GRCh38] Chr19:1207204 [GRCh37] Chr19:19p13.3	pathogenic\|likely pathogenic
NM_000455.5(STK11):c.1122A>G (p.Glu374=)	single nucleotide variant	Peutz-Jeghers syndrome [RCV000943152]	Chr19:1226467 [GRCh38] Chr19:1226466 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.863-5C>T	single nucleotide variant	Peutz-Jeghers syndrome [RCV000990130]	Chr19:1221944 [GRCh38] Chr19:1221943 [GRCh37] Chr19:19p13.3	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_000455.5(STK11):c.792T>C (p.Phe264=)	single nucleotide variant	Peutz-Jeghers syndrome [RCV001464931]	Chr19:1221270 [GRCh38] Chr19:1221269 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.252G>A (p.Lys84=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001015849]\|Peutz-Jeghers syndrome [RCV001433718]	Chr19:1207165 [GRCh38] Chr19:1207164 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.306G>T (p.Leu102=)	single nucleotide variant	Peutz-Jeghers syndrome [RCV000918090]	Chr19:1218432 [GRCh38] Chr19:1218431 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.597+9G>C	single nucleotide variant	Peutz-Jeghers syndrome [RCV001443163]	Chr19:1220514 [GRCh38] Chr19:1220513 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.609G>T (p.Pro203=)	single nucleotide variant	Peutz-Jeghers syndrome [RCV000930049]	Chr19:1220592 [GRCh38] Chr19:1220591 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.375-6C>A	single nucleotide variant	Peutz-Jeghers syndrome [RCV001466331]	Chr19:1219318 [GRCh38] Chr19:1219317 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.645C>T (p.Gly215=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003169356]\|Peutz-Jeghers syndrome [RCV001491039]	Chr19:1220628 [GRCh38] Chr19:1220627 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.921-6T>C	single nucleotide variant	Peutz-Jeghers syndrome [RCV001401980]	Chr19:1222979 [GRCh38] Chr19:1222978 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.304C>T (p.Leu102=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003169472]\|Peutz-Jeghers syndrome [RCV001447872]	Chr19:1218430 [GRCh38] Chr19:1218429 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.*603T>G	single nucleotide variant	Peutz-Jeghers syndrome [RCV001126100]	Chr19:1228179 [GRCh38] Chr19:1228178 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.*629C>T	single nucleotide variant	Peutz-Jeghers syndrome [RCV001126102]	Chr19:1228205 [GRCh38] Chr19:1228204 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.*631G>A	single nucleotide variant	Peutz-Jeghers syndrome [RCV001126103]	Chr19:1228207 [GRCh38] Chr19:1228206 [GRCh37] Chr19:19p13.3	uncertain significance
NC_000019.10:g.(?_1218407)_(1226657_?)del	deletion	Peutz-Jeghers syndrome [RCV001032176]	Chr19:1218406..1226656 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.288_289dup (p.Lys97fs)	duplication	Hereditary cancer-predisposing syndrome [RCV002436817]\|Peutz-Jeghers syndrome [RCV001212374]	Chr19:1207199..1207200 [GRCh38] Chr19:1207198..1207199 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.1183A>C (p.Thr395Pro)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001179943]\|Peutz-Jeghers syndrome [RCV003617900]	Chr19:1226528 [GRCh38] Chr19:1226527 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.7G>C (p.Val3Leu)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001179969]\|Peutz-Jeghers syndrome [RCV001875963]	Chr19:1206920 [GRCh38] Chr19:1206919 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.283G>A (p.Val95Met)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002436843]\|Peutz-Jeghers syndrome [RCV001219130]	Chr19:1207196 [GRCh38] Chr19:1207195 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.175T>C (p.Ser59Pro)	single nucleotide variant	Peutz-Jeghers syndrome [RCV001242811]	Chr19:1207088 [GRCh38] Chr19:1207087 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.228C>T (p.Ala76=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001188166]\|Peutz-Jeghers syndrome [RCV002068495]	Chr19:1207141 [GRCh38] Chr19:1207140 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.1233C>G (p.Pro411=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001188254]	Chr19:1226578 [GRCh38] Chr19:1226577 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.882G>C (p.Pro294=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001188573]	Chr19:1221968 [GRCh38] Chr19:1221967 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.374+16T>C	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001188672]\|Peutz-Jeghers syndrome [RCV002069038]	Chr19:1218516 [GRCh38] Chr19:1218515 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.-1097G>T	single nucleotide variant	Peutz-Jeghers syndrome [RCV001127899]	Chr19:1205817 [GRCh38] Chr19:1205816 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.312G>T (p.Arg104Ser)	single nucleotide variant	Peutz-Jeghers syndrome [RCV001127998]	Chr19:1218438 [GRCh38] Chr19:1218437 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1250C>T (p.Ala417Val)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003353220]\|Peutz-Jeghers syndrome [RCV001223437]	Chr19:1226595 [GRCh38] Chr19:1226594 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1121A>G (p.Glu374Gly)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001176481]	Chr19:1226466 [GRCh38] Chr19:1226465 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.631C>A (p.Arg211=)	single nucleotide variant	Peutz-Jeghers syndrome [RCV001209024]	Chr19:1220614 [GRCh38] Chr19:1220613 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1096T>G (p.Phe366Val)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001177912]\|Peutz-Jeghers syndrome [RCV001875867]	Chr19:1223160 [GRCh38] Chr19:1223159 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.913C>A (p.Gln305Lys)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001189844]	Chr19:1221999 [GRCh38] Chr19:1221998 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.551T>C (p.Leu184Pro)	single nucleotide variant	Peutz-Jeghers syndrome [RCV001051672]	Chr19:1220459 [GRCh38] Chr19:1220458 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.26T>A (p.Leu9Gln)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001190513]\|Peutz-Jeghers syndrome [RCV001247437]	Chr19:1206939 [GRCh38] Chr19:1206938 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1162A>C (p.Lys388Gln)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001182798]\|Peutz-Jeghers syndrome [RCV001321488]	Chr19:1226507 [GRCh38] Chr19:1226506 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.9_10delinsTA	indel	Hereditary cancer-predisposing syndrome [RCV001185810]	Chr19:1226656..1226657 [GRCh38] Chr19:1226655..1226656 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.290+15C>G	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001178601]\|Peutz-Jeghers syndrome [RCV002559747]	Chr19:1207218 [GRCh38] Chr19:1207217 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.465-7C>G	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001190834]\|Peutz-Jeghers syndrome [RCV001859145]	Chr19:1220366 [GRCh38] Chr19:1220365 [GRCh37] Chr19:19p13.3	likely benign\|uncertain significance
NM_000455.5(STK11):c.734+13C>A	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001190924]\|Peutz-Jeghers syndrome [RCV002069136]	Chr19:1220730 [GRCh38] Chr19:1220729 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.668A>G (p.Glu223Gly)	single nucleotide variant	Peutz-Jeghers syndrome [RCV001125012]	Chr19:1220651 [GRCh38] Chr19:1220650 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.598-3C>T	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002357018]\|Peutz-Jeghers syndrome [RCV001237862]	Chr19:1220578 [GRCh38] Chr19:1220577 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.465-17G>T	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001183853]	Chr19:1220356 [GRCh38] Chr19:1220355 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.1108+13G>T	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001178913]	Chr19:1223185 [GRCh38] Chr19:1223184 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.1278G>T (p.Arg426=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001178957]	Chr19:1226623 [GRCh38] Chr19:1226622 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.921-8G>C	single nucleotide variant	Peutz-Jeghers syndrome [RCV001229236]	Chr19:1222977 [GRCh38] Chr19:1222976 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1114G>A (p.Val372Ile)	single nucleotide variant	Melanoma, cutaneous malignant, susceptibility to, 1 [RCV003469351]\|Peutz-Jeghers syndrome [RCV001211771]	Chr19:1226459 [GRCh38] Chr19:1226458 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.863-20C>T	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001191409]\|Peutz-Jeghers syndrome [RCV003617914]	Chr19:1221929 [GRCh38] Chr19:1221928 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.375-19del	deletion	Carcinoma of pancreas [RCV001196875]	Chr19:1219305 [GRCh38] Chr19:1219304 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.465-11G>A	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001185105]	Chr19:1220362 [GRCh38] Chr19:1220361 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1009G>A (p.Val337Met)	single nucleotide variant	Peutz-Jeghers syndrome [RCV001241493]	Chr19:1223073 [GRCh38] Chr19:1223072 [GRCh37] Chr19:19p13.3	uncertain significance
NC_000019.10:g.(?_1218407)_(1223182_?)del	deletion	Peutz-Jeghers syndrome [RCV001031953]	Chr19:1218406..1223181 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.448G>A (p.Val150Met)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001186709]\|Peutz-Jeghers syndrome [RCV001210961]	Chr19:1219397 [GRCh38] Chr19:1219396 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.920+3G>T	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001177988]\|Peutz-Jeghers syndrome [RCV001875870]	Chr19:1222009 [GRCh38] Chr19:1222008 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.862+9C>T	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001178214]\|Peutz-Jeghers syndrome [RCV003617898]	Chr19:1221349 [GRCh38] Chr19:1221348 [GRCh37] Chr19:19p13.3	likely benign\|uncertain significance
NM_000455.5(STK11):c.1172G>A (p.Cys391Tyr)	single nucleotide variant	Peutz-Jeghers syndrome [RCV001218237]	Chr19:1226517 [GRCh38] Chr19:1226516 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.67G>C (p.Asp23His)	single nucleotide variant	Peutz-Jeghers syndrome [RCV001218270]	Chr19:1206980 [GRCh38] Chr19:1206979 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.46G>A (p.Glu16Lys)	single nucleotide variant	Peutz-Jeghers syndrome [RCV001238406]	Chr19:1206959 [GRCh38] Chr19:1206958 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.993G>A (p.Arg331=)	single nucleotide variant	Peutz-Jeghers syndrome [RCV001450211]	Chr19:1223057 [GRCh38] Chr19:1223056 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.894C>G (p.Phe298Leu)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001185567]\|Peutz-Jeghers syndrome [RCV001495350]	Chr19:1221980 [GRCh38] Chr19:1221979 [GRCh37] Chr19:19p13.3	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_000455.5(STK11):c.682C>T (p.Leu228=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002363405]\|Peutz-Jeghers syndrome [RCV001402426]	Chr19:1220665 [GRCh38] Chr19:1220664 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.510G>A (p.Gln170=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001526092]\|not provided [RCV000986038]	Chr19:1220418 [GRCh38] Chr19:1220417 [GRCh37] Chr19:19p13.3	likely benign\|uncertain significance
NC_000019.10:g.1205491A>G	single nucleotide variant	not provided [RCV001570654]	Chr19:1205491 [GRCh38] Chr19:1205490 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.862+6A>G	single nucleotide variant	not provided [RCV001552192]	Chr19:1221346 [GRCh38] Chr19:1221345 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.-167C>T	single nucleotide variant	Peutz-Jeghers syndrome [RCV000990122]	Chr19:1206747 [GRCh38] Chr19:1206746 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.-99C>T	single nucleotide variant	Peutz-Jeghers syndrome [RCV000990123]	Chr19:1206815 [GRCh38] Chr19:1206814 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.*17-162C>T	single nucleotide variant	not provided [RCV001549996]	Chr19:1227431 [GRCh38] Chr19:1227430 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.291-32C>T	single nucleotide variant	not provided [RCV001636219]\|not specified [RCV002268544]	Chr19:1218385 [GRCh38] Chr19:1218384 [GRCh37] Chr19:19p13.3	benign
NM_000455.5(STK11):c.652del (p.Ala218fs)	deletion	Lung cancer [RCV002465353]	Chr19:1220634 [GRCh38] Chr19:1220633 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.653_669del (p.Ala218fs)	deletion	Lung cancer [RCV002465355]	Chr19:1220635..1220651 [GRCh38] Chr19:1220634..1220650 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.735-87G>A	single nucleotide variant	not provided [RCV001561196]	Chr19:1221126 [GRCh38] Chr19:1221125 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.616del (p.Ala206fs)	deletion	Lung cancer [RCV002465231]	Chr19:1220598 [GRCh38] Chr19:1220597 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.1188G>C (p.Glu396Asp)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001010229]	Chr19:1226533 [GRCh38] Chr19:1226532 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1197G>T (p.Gln399His)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001010246]\|Melanoma, cutaneous malignant, susceptibility to, 1 [RCV003467589]\|Peutz-Jeghers syndrome [RCV001862762]	Chr19:1226542 [GRCh38] Chr19:1226541 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1217C>G (p.Ala406Gly)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001010375]\|Melanoma, cutaneous malignant, susceptibility to, 1 [RCV003467590]\|Peutz-Jeghers syndrome [RCV001050408]\|not specified [RCV002465820]	Chr19:1226562 [GRCh38] Chr19:1226561 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.209A>G (p.Glu70Gly)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002418545]\|Peutz-Jeghers syndrome [RCV001066252]	Chr19:1207122 [GRCh38] Chr19:1207121 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.526del (p.Asp176fs)	deletion	Hereditary cancer-predisposing syndrome [RCV001023827]	Chr19:1220433 [GRCh38] Chr19:1220432 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.1001G>A (p.Ser334Asn)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001009635]\|Peutz-Jeghers syndrome [RCV003617868]	Chr19:1223065 [GRCh38] Chr19:1223064 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.862+206C>T	single nucleotide variant	not provided [RCV001594741]	Chr19:1221546 [GRCh38] Chr19:1221545 [GRCh37] Chr19:19p13.3	benign
NM_000455.5(STK11):c.375-194_375-193del	deletion	not provided [RCV001655370]	Chr19:1219130..1219131 [GRCh38] Chr19:1219129..1219130 [GRCh37] Chr19:19p13.3	benign
NM_000455.5(STK11):c.1108+199C>T	single nucleotide variant	not provided [RCV001723209]	Chr19:1223371 [GRCh38] Chr19:1223370 [GRCh37] Chr19:19p13.3	benign
NM_000455.5(STK11):c.374+270G>T	single nucleotide variant	not provided [RCV001677425]	Chr19:1218770 [GRCh38] Chr19:1218769 [GRCh37] Chr19:19p13.3	benign
NM_000455.5(STK11):c.*17-11C>A	single nucleotide variant	not provided [RCV001638494]	Chr19:1227582 [GRCh38] Chr19:1227581 [GRCh37] Chr19:19p13.3	benign
NM_000455.5(STK11):c.1233C>T (p.Pro411=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001175779]	Chr19:1226578 [GRCh38] Chr19:1226577 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.715T>G (p.Trp239Gly)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001026100]	Chr19:1220698 [GRCh38] Chr19:1220697 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.*701C>A	single nucleotide variant	Peutz-Jeghers syndrome [RCV001128187]	Chr19:1228277 [GRCh38] Chr19:1228276 [GRCh37] Chr19:19p13.3	uncertain significance
NM_001393918.1(CBARP):c.*837C>T	single nucleotide variant	Peutz-Jeghers syndrome [RCV001128189]	Chr19:1228342 [GRCh38] Chr19:1228341 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1A>T (p.Met1Leu)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001187941]	Chr19:1206914 [GRCh38] Chr19:1206913 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.-388C>T	single nucleotide variant	Peutz-Jeghers syndrome [RCV001124916]	Chr19:1206526 [GRCh38] Chr19:1206525 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.*411T>C	single nucleotide variant	Peutz-Jeghers syndrome [RCV001125134]	Chr19:1227987 [GRCh38] Chr19:1227986 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.291-10_922del	deletion	Peutz-Jeghers syndrome [RCV001048932]	Chr19:1218407..1222986 [GRCh38] Chr19:1218406..1222985 [GRCh37] Chr19:19p13.3	likely pathogenic
NM_000455.5(STK11):c.932A>G (p.Lys311Arg)	single nucleotide variant	Peutz-Jeghers syndrome [RCV001048948]	Chr19:1222996 [GRCh38] Chr19:1222995 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.768A>C (p.Glu256Asp)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001026710]	Chr19:1221246 [GRCh38] Chr19:1221245 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.792del (p.Phe264fs)	deletion	Hereditary cancer-predisposing syndrome [RCV001026963]	Chr19:1221268 [GRCh38] Chr19:1221267 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.-6T>A	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001188594]	Chr19:1206908 [GRCh38] Chr19:1206907 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.495G>A (p.Glu165=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001023326]	Chr19:1220403 [GRCh38] Chr19:1220402 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.805A>G (p.Lys269Glu)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001027121]	Chr19:1221283 [GRCh38] Chr19:1221282 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.-333G>T	single nucleotide variant	Peutz-Jeghers syndrome [RCV001124917]	Chr19:1206581 [GRCh38] Chr19:1206580 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1125G>A (p.Glu375=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001189094]	Chr19:1226470 [GRCh38] Chr19:1226469 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.81C>T (p.His27=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001189261]\|Peutz-Jeghers syndrome [RCV001426283]	Chr19:1206994 [GRCh38] Chr19:1206993 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.464+44dup	duplication	Squamous cell lung carcinoma [RCV001250930]\|not provided [RCV001593261]\|not specified [RCV002268431]	Chr19:1219452..1219453 [GRCh38] Chr19:1219451..1219452 [GRCh37] Chr19:19p13.3	benign\|likely benign\|uncertain significance
NM_000455.5(STK11):c.464+95T>C	single nucleotide variant	Squamous cell lung carcinoma [RCV001250931]	Chr19:1219508 [GRCh38] Chr19:1219507 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.*347G>A	single nucleotide variant	Peutz-Jeghers syndrome [RCV001125131]	Chr19:1227923 [GRCh38] Chr19:1227922 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.105C>T (p.Ile35=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002400012]\|Peutz-Jeghers syndrome [RCV001403302]	Chr19:1207018 [GRCh38] Chr19:1207017 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.964del (p.Ile322fs)	deletion	Peutz-Jeghers syndrome [RCV000823781]	Chr19:1223028 [GRCh38] Chr19:1223027 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.992G>T (p.Arg331Leu)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002386402]\|Peutz-Jeghers syndrome [RCV000796850]	Chr19:1223056 [GRCh38] Chr19:1223055 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.113C>G (p.Pro38Arg)	single nucleotide variant	Peutz-Jeghers syndrome [RCV000792286]\|not specified [RCV001805858]	Chr19:1207026 [GRCh38] Chr19:1207025 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.18_19delinsAA (p.Gln7Lys)	indel	Peutz-Jeghers syndrome [RCV000815055]	Chr19:1206931..1206932 [GRCh38] Chr19:1206930..1206931 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.38C>T (p.Thr13Met)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001181154]\|Peutz-Jeghers syndrome [RCV000820072]	Chr19:1206951 [GRCh38] Chr19:1206950 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1073A>G (p.Asp358Gly)	single nucleotide variant	Peutz-Jeghers syndrome [RCV001209942]	Chr19:1223137 [GRCh38] Chr19:1223136 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.153G>A (p.Met51Ile)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001182869]\|Peutz-Jeghers syndrome [RCV003617904]	Chr19:1207066 [GRCh38] Chr19:1207065 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.*613C>T	single nucleotide variant	Peutz-Jeghers syndrome [RCV001126101]	Chr19:1228189 [GRCh38] Chr19:1228188 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.862+145C>T	single nucleotide variant	not provided [RCV001651816]	Chr19:1221485 [GRCh38] Chr19:1221484 [GRCh37] Chr19:19p13.3	benign
NM_000455.5(STK11):c.464+141G>T	single nucleotide variant	not provided [RCV001714439]	Chr19:1219554 [GRCh38] Chr19:1219553 [GRCh37] Chr19:19p13.3	benign
GRCh37/hg19 19p13.3(chr19:1205244-1479188)x1	copy number loss	not provided [RCV002472605]	Chr19:1205244..1479188 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.151A>G (p.Met51Val)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002393319]\|Peutz-Jeghers syndrome [RCV001066045]	Chr19:1207064 [GRCh38] Chr19:1207063 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.921-12G>A	single nucleotide variant	not provided [RCV001723454]	Chr19:1222973 [GRCh38] Chr19:1222972 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.424A>G (p.Ser142Gly)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001022131]\|Peutz-Jeghers syndrome [RCV002549548]	Chr19:1219373 [GRCh38] Chr19:1219372 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.432G>T (p.Pro144=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001022305]\|Peutz-Jeghers syndrome [RCV001495883]	Chr19:1219381 [GRCh38] Chr19:1219380 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.*348C>G	single nucleotide variant	Peutz-Jeghers syndrome [RCV001125132]	Chr19:1227924 [GRCh38] Chr19:1227923 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1180G>T (p.Gly394Cys)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001010165]	Chr19:1226525 [GRCh38] Chr19:1226524 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.464+1G>A	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001185859]\|Peutz-Jeghers syndrome [RCV001377432]	Chr19:1219414 [GRCh38] Chr19:1219413 [GRCh37] Chr19:19p13.3	pathogenic\|likely pathogenic
NM_000455.5(STK11):c.1093G>T (p.Asp365Tyr)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001185910]	Chr19:1223157 [GRCh38] Chr19:1223156 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1227G>C (p.Arg409=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001010437]	Chr19:1226572 [GRCh38] Chr19:1226571 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.124C>T (p.Arg42Trp)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001178794]\|Peutz-Jeghers syndrome [RCV001875910]	Chr19:1207037 [GRCh38] Chr19:1207036 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.402T>G (p.Cys134Trp)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001178795]\|Peutz-Jeghers syndrome [RCV001230390]	Chr19:1219351 [GRCh38] Chr19:1219350 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.465-19G>A	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001178796]\|Peutz-Jeghers syndrome [RCV001875911]	Chr19:1220354 [GRCh38] Chr19:1220353 [GRCh37] Chr19:19p13.3	likely benign\|uncertain significance
NM_000455.5(STK11):c.1108+13G>A	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001189770]	Chr19:1223185 [GRCh38] Chr19:1223184 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.-136C>T	single nucleotide variant	Peutz-Jeghers syndrome [RCV001125891]	Chr19:1206778 [GRCh38] Chr19:1206777 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.735-14C>T	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001181034]\|Peutz-Jeghers syndrome [RCV002068286]	Chr19:1221199 [GRCh38] Chr19:1221198 [GRCh37] Chr19:19p13.3	likely benign\|uncertain significance
NM_000455.5(STK11):c.862+14C>T	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001181035]\|Peutz-Jeghers syndrome [RCV002067916]	Chr19:1221354 [GRCh38] Chr19:1221353 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.1269G>A (p.Lys423=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001010670]	Chr19:1226614 [GRCh38] Chr19:1226613 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.223A>G (p.Arg75Gly)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001014878]	Chr19:1207136 [GRCh38] Chr19:1207135 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.612C>G (p.Phe204Leu)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001178798]\|Peutz-Jeghers syndrome [RCV002555495]	Chr19:1220595 [GRCh38] Chr19:1220594 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1263C>A (p.Ser421Arg)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001186104]	Chr19:1226608 [GRCh38] Chr19:1226607 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.920+17G>T	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001185647]\|Peutz-Jeghers syndrome [RCV002068418]	Chr19:1222023 [GRCh38] Chr19:1222022 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.1291A>C (p.Lys431Gln)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001010791]	Chr19:1226636 [GRCh38] Chr19:1226635 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.242del (p.Lys81fs)	deletion	Hereditary cancer-predisposing syndrome [RCV001015503]	Chr19:1207154 [GRCh38] Chr19:1207153 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.1300T>C (p.Ter434Arg)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001182807]	Chr19:1226645 [GRCh38] Chr19:1226644 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.766G>A (p.Glu256Lys)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001182876]\|Peutz-Jeghers syndrome [RCV001295145]	Chr19:1221244 [GRCh38] Chr19:1221243 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.848C>G (p.Ser283Cys)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001184174]	Chr19:1221326 [GRCh38] Chr19:1221325 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.678C>A (p.Asn226Lys)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003160355]\|Peutz-Jeghers syndrome [RCV001046718]	Chr19:1220661 [GRCh38] Chr19:1220660 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.374+7T>G	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001175920]	Chr19:1218507 [GRCh38] Chr19:1218506 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.774C>A (p.Asp258Glu)	single nucleotide variant	Peutz-Jeghers syndrome [RCV001066703]	Chr19:1221252 [GRCh38] Chr19:1221251 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.583C>G (p.Leu195Val)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001024587]	Chr19:1220491 [GRCh38] Chr19:1220490 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.288G>A (p.Lys96=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001016880]\|Peutz-Jeghers syndrome [RCV001396348]	Chr19:1207201 [GRCh38] Chr19:1207200 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.1029C>G (p.Asp343Glu)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001017063]	Chr19:1223093 [GRCh38] Chr19:1223092 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.138C>T (p.Ile46=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001179985]\|Peutz-Jeghers syndrome [RCV002067906]	Chr19:1207051 [GRCh38] Chr19:1207050 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.290+17G>A	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001180124]\|Peutz-Jeghers syndrome [RCV001875972]	Chr19:1207220 [GRCh38] Chr19:1207219 [GRCh37] Chr19:19p13.3	likely benign\|uncertain significance
NM_000455.5(STK11):c.1194G>T (p.Ala398=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001191688]	Chr19:1226539 [GRCh38] Chr19:1226538 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.354C>G (p.Tyr118Ter)	single nucleotide variant	Peutz-Jeghers syndrome [RCV001067850]	Chr19:1218480 [GRCh38] Chr19:1218479 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.241A>C (p.Lys81Gln)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001181882]\|Peutz-Jeghers syndrome [RCV001297639]	Chr19:1207154 [GRCh38] Chr19:1207153 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.603G>A (p.Leu201=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001024830]	Chr19:1220586 [GRCh38] Chr19:1220585 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.1053_1058dup (p.Asp352_Leu353dup)	duplication	Hereditary cancer-predisposing syndrome [RCV001017146]\|Peutz-Jeghers syndrome [RCV001211505]	Chr19:1223116..1223117 [GRCh38] Chr19:1223115..1223116 [GRCh37] Chr19:19p13.3	likely benign\|uncertain significance
NM_000455.5(STK11):c.771G>C (p.Gly257=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001182657]	Chr19:1221249 [GRCh38] Chr19:1221248 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.-835C>T	single nucleotide variant	Peutz-Jeghers syndrome [RCV001127901]	Chr19:1206079 [GRCh38] Chr19:1206078 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.-775G>A	single nucleotide variant	Peutz-Jeghers syndrome [RCV001127904]	Chr19:1206139 [GRCh38] Chr19:1206138 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.146A>T (p.Tyr49Phe)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001011752]	Chr19:1207059 [GRCh38] Chr19:1207058 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.838C>T (p.Pro280Ser)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001017674]\|Peutz-Jeghers syndrome [RCV001061947]	Chr19:1221316 [GRCh38] Chr19:1221315 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.839C>T (p.Pro280Leu)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001017687]\|Peutz-Jeghers syndrome [RCV001317877]\|not specified [RCV001199900]	Chr19:1221317 [GRCh38] Chr19:1221316 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.855G>A (p.Leu285=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001018001]\|Peutz-Jeghers syndrome [RCV002550838]	Chr19:1221333 [GRCh38] Chr19:1221332 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.920+15G>T	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001187036]	Chr19:1222021 [GRCh38] Chr19:1222020 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.-590C>T	single nucleotide variant	Peutz-Jeghers syndrome [RCV001122146]	Chr19:1206324 [GRCh38] Chr19:1206323 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1018T>C (p.Tyr340His)	single nucleotide variant	Peutz-Jeghers syndrome [RCV001128096]	Chr19:1223082 [GRCh38] Chr19:1223081 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.*668C>A	single nucleotide variant	Peutz-Jeghers syndrome [RCV001128186]	Chr19:1228244 [GRCh38] Chr19:1228243 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.308G>C (p.Arg103Thr)	single nucleotide variant	Peutz-Jeghers syndrome [RCV001047992]	Chr19:1218434 [GRCh38] Chr19:1218433 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.669G>A (p.Glu223=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001025545]	Chr19:1220652 [GRCh38] Chr19:1220651 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.863-3C>T	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001018108]\|Peutz-Jeghers syndrome [RCV001809918]	Chr19:1221946 [GRCh38] Chr19:1221945 [GRCh37] Chr19:19p13.3	conflicting interpretations of pathogenicity\|uncertain significance
NM_000455.5(STK11):c.606C>G (p.His202Gln)	single nucleotide variant	Peutz-Jeghers syndrome [RCV001122238]	Chr19:1220589 [GRCh38] Chr19:1220588 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.*113T>G	single nucleotide variant	Peutz-Jeghers syndrome [RCV001122344]	Chr19:1227689 [GRCh38] Chr19:1227688 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.-806C>T	single nucleotide variant	Peutz-Jeghers syndrome [RCV001127902]	Chr19:1206108 [GRCh38] Chr19:1206107 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.-783G>A	single nucleotide variant	Peutz-Jeghers syndrome [RCV001127903]	Chr19:1206131 [GRCh38] Chr19:1206130 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.159C>T (p.Asp53=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001012367]\|Peutz-Jeghers syndrome [RCV001398969]	Chr19:1207072 [GRCh38] Chr19:1207071 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.12G>A (p.Val4=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001180347]\|Peutz-Jeghers syndrome [RCV001459357]\|not specified [RCV003493810]	Chr19:1206925 [GRCh38] Chr19:1206924 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.772del (p.Asp258fs)	deletion	Peutz-Jeghers syndrome [RCV001860501]\|not specified [RCV001001057]	Chr19:1221247 [GRCh38] Chr19:1221246 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.969A>G (p.Pro323=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001182048]\|Peutz-Jeghers syndrome [RCV001441487]	Chr19:1223033 [GRCh38] Chr19:1223032 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.1088C>A (p.Thr363Asn)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001009872]	Chr19:1223152 [GRCh38] Chr19:1223151 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1150C>G (p.Arg384Gly)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001009992]	Chr19:1226495 [GRCh38] Chr19:1226494 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.945G>T (p.Pro315=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001181915]\|Peutz-Jeghers syndrome [RCV002068301]	Chr19:1223009 [GRCh38] Chr19:1223008 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.735-51C>T	single nucleotide variant	not provided [RCV001685191]	Chr19:1221162 [GRCh38] Chr19:1221161 [GRCh37] Chr19:19p13.3	benign
NC_000019.9:g.(?_852326)_(1226646_?)del	deletion	Peutz-Jeghers syndrome [RCV001033230]	Chr19:852326..1226646 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.*16+19C>G	single nucleotide variant	not provided [RCV001585552]	Chr19:1226682 [GRCh38] Chr19:1226681 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.1205C>T (p.Thr402Ile)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001010299]\|Peutz-Jeghers syndrome [RCV003507343]	Chr19:1226550 [GRCh38] Chr19:1226549 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1277G>A (p.Arg426Gln)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001010707]\|Peutz-Jeghers syndrome [RCV001221602]	Chr19:1226622 [GRCh38] Chr19:1226621 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1284G>T (p.Ser428=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001010750]\|Peutz-Jeghers syndrome [RCV001395522]\|not specified [RCV002298818]	Chr19:1226629 [GRCh38] Chr19:1226628 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.54G>T (p.Met18Ile)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001024190]\|Peutz-Jeghers syndrome [RCV001047448]	Chr19:1206967 [GRCh38] Chr19:1206966 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.*176C>T	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001706961]	Chr19:1227752 [GRCh38] Chr19:1227751 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.138C>G (p.Ile46Met)	single nucleotide variant	Peutz-Jeghers syndrome [RCV001048259]	Chr19:1207051 [GRCh38] Chr19:1207050 [GRCh37] Chr19:19p13.3	uncertain significance
NC_000019.9:g.(?_852319)_(1226656_?)del	deletion	Peutz-Jeghers syndrome [RCV001033903]	Chr19:852319..1226656 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.991C>G (p.Arg331Gly)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002379621]\|Peutz-Jeghers syndrome [RCV001070079]	Chr19:1223055 [GRCh38] Chr19:1223054 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.922_931delinsCC (p.Trp308fs)	indel	Hereditary cancer-predisposing syndrome [RCV001019033]	Chr19:1222986..1222995 [GRCh38] Chr19:1222985..1222994 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.290+78C>T	single nucleotide variant	not provided [RCV001683888]	Chr19:1207281 [GRCh38] Chr19:1207280 [GRCh37] Chr19:19p13.3	benign
NM_000455.5(STK11):c.*16+13G>A	single nucleotide variant	not provided [RCV001588401]	Chr19:1226676 [GRCh38] Chr19:1226675 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.50T>C (p.Leu17Pro)	single nucleotide variant	Peutz-Jeghers syndrome [RCV001068126]	Chr19:1206963 [GRCh38] Chr19:1206962 [GRCh37] Chr19:19p13.3	uncertain significance
NC_000019.10:g.(?_1222975)_(1226647_?)del	deletion	Peutz-Jeghers syndrome [RCV001032184]	Chr19:1222974..1226646 [GRCh37] Chr19:19p13.3	likely pathogenic
NM_000455.5(STK11):c.997C>T (p.Arg333Cys)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001181037]\|Peutz-Jeghers syndrome [RCV001202795]\|not provided [RCV002254954]\|not specified [RCV002465838]	Chr19:1223061 [GRCh38] Chr19:1223060 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.772G>A (p.Asp258Asn)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001026762]	Chr19:1221250 [GRCh38] Chr19:1221249 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.806del (p.Lys269fs)	deletion	Hereditary cancer-predisposing syndrome [RCV001027134]	Chr19:1221283 [GRCh38] Chr19:1221282 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.812G>A (p.Ser271Asn)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001027203]\|Peutz-Jeghers syndrome [RCV001368925]\|not provided [RCV002067710]	Chr19:1221290 [GRCh38] Chr19:1221289 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.967C>G (p.Pro323Ala)	single nucleotide variant	Peutz-Jeghers syndrome [RCV001071182]	Chr19:1223031 [GRCh38] Chr19:1223030 [GRCh37] Chr19:19p13.3	uncertain significance
GRCh37/hg19 19p13.3(chr19:1075192-2256387)x3	copy number gain	not provided [RCV001007026]	Chr19:1075192..2256387 [GRCh37] Chr19:19p13.3	likely pathogenic
NM_000455.5(STK11):c.1236C>G (p.Asn412Lys)	single nucleotide variant	Peutz-Jeghers syndrome [RCV001056363]	Chr19:1226581 [GRCh38] Chr19:1226580 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.820A>G (p.Ile274Val)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001027280]	Chr19:1221298 [GRCh38] Chr19:1221297 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1126G>A (p.Glu376Lys)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003160291]\|Peutz-Jeghers syndrome [RCV001042613]	Chr19:1226471 [GRCh38] Chr19:1226470 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.697G>C (p.Gly233Arg)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002365737]\|Peutz-Jeghers syndrome [RCV001061155]	Chr19:1220680 [GRCh38] Chr19:1220679 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1216G>A (p.Ala406Thr)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001010372]\|Peutz-Jeghers syndrome [RCV001860634]\|not provided [RCV003319430]	Chr19:1226561 [GRCh38] Chr19:1226560 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1262G>A (p.Ser421Asn)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001010636]\|Melanoma, cutaneous malignant, susceptibility to, 1 [RCV003461318]	Chr19:1226607 [GRCh38] Chr19:1226606 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.734+14C>T	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001181033]\|Peutz-Jeghers syndrome [RCV002558987]\|STK11-related condition [RCV003898178]	Chr19:1220731 [GRCh38] Chr19:1220730 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.722C>T (p.Ala241Val)	single nucleotide variant	Peutz-Jeghers syndrome [RCV001220068]	Chr19:1220705 [GRCh38] Chr19:1220704 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.601C>T (p.Leu201=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001024813]\|Peutz-Jeghers syndrome [RCV002067679]	Chr19:1220584 [GRCh38] Chr19:1220583 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.605A>T (p.His202Leu)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001024847]	Chr19:1220588 [GRCh38] Chr19:1220587 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.443T>G (p.Phe148Cys)	single nucleotide variant	Peutz-Jeghers syndrome [RCV001214530]	Chr19:1219392 [GRCh38] Chr19:1219391 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.626C>G (p.Thr209Ser)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001025060]\|Peutz-Jeghers syndrome [RCV002551914]	Chr19:1220609 [GRCh38] Chr19:1220608 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.637A>G (p.Ser213Gly)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001025196]\|Peutz-Jeghers syndrome [RCV001223430]	Chr19:1220620 [GRCh38] Chr19:1220619 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.151A>T (p.Met51Leu)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001011961]	Chr19:1207064 [GRCh38] Chr19:1207063 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.64A>G (p.Met22Val)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001025339]\|Melanoma, cutaneous malignant, susceptibility to, 1 [RCV003461406]\|Peutz-Jeghers syndrome [RCV001044306]	Chr19:1206977 [GRCh38] Chr19:1206976 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.65T>G (p.Met22Arg)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001025447]	Chr19:1206978 [GRCh38] Chr19:1206977 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1040_1045del (p.Ala347_Asp348del)	deletion	Hereditary cancer-predisposing syndrome [RCV002393500]\|Peutz-Jeghers syndrome [RCV001214999]	Chr19:1223102..1223107 [GRCh38] Chr19:1223101..1223106 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.807G>T (p.Lys269Asn)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003284065]\|Peutz-Jeghers syndrome [RCV001216597]	Chr19:1221285 [GRCh38] Chr19:1221284 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.69C>G (p.Asp23Glu)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001025894]\|Peutz-Jeghers syndrome [RCV001809951]\|not provided [RCV001284358]	Chr19:1206982 [GRCh38] Chr19:1206981 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.711C>A (p.Asp237Glu)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001026060]	Chr19:1220694 [GRCh38] Chr19:1220693 [GRCh37] Chr19:19p13.3	likely pathogenic
NM_000455.5(STK11):c.*565G>A	single nucleotide variant	Peutz-Jeghers syndrome [RCV001126099]	Chr19:1228141 [GRCh38] Chr19:1228140 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1283C>A (p.Ser428Ter)	single nucleotide variant	Peutz-Jeghers syndrome [RCV001202790]	Chr19:1226628 [GRCh38] Chr19:1226627 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1244G>T (p.Arg415Leu)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002393290]\|Peutz-Jeghers syndrome [RCV001059617]	Chr19:1226589 [GRCh38] Chr19:1226588 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.743T>C (p.Ile248Thr)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001026439]\|Peutz-Jeghers syndrome [RCV001340410]	Chr19:1221221 [GRCh38] Chr19:1221220 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1066A>C (p.Ile356Leu)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001009828]\|Peutz-Jeghers syndrome [RCV001049761]	Chr19:1223130 [GRCh38] Chr19:1223129 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.351A>T (p.Leu117Phe)	single nucleotide variant	Peutz-Jeghers syndrome [RCV001035367]	Chr19:1218477 [GRCh38] Chr19:1218476 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1226G>C (p.Arg409Pro)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001177476]\|Peutz-Jeghers syndrome [RCV001064346]\|not provided [RCV002464366]	Chr19:1226571 [GRCh38] Chr19:1226570 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.801C>A (p.Ile267=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001027070]	Chr19:1221279 [GRCh38] Chr19:1221278 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.863-2_863-1del	deletion	not provided [RCV001171936]	Chr19:1221947..1221948 [GRCh38] Chr19:1221946..1221947 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.990C>A (p.Asp330Glu)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001019881]	Chr19:1223054 [GRCh38] Chr19:1223053 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1065C>T (p.Asp355=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001009822]\|Peutz-Jeghers syndrome [RCV001451418]\|STK11-related condition [RCV003898032]	Chr19:1223129 [GRCh38] Chr19:1223128 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.1136A>C (p.His379Pro)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001009979]	Chr19:1226481 [GRCh38] Chr19:1226480 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.830_836dup (p.Pro280fs)	duplication	Hereditary cancer-predisposing syndrome [RCV001027387]	Chr19:1221306..1221307 [GRCh38] Chr19:1221305..1221306 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.365A>G (p.Lys122Arg)	single nucleotide variant	Peutz-Jeghers syndrome [RCV001229096]	Chr19:1218491 [GRCh38] Chr19:1218490 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1161C>T (p.Pro387=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001010047]\|Peutz-Jeghers syndrome [RCV001482534]	Chr19:1226506 [GRCh38] Chr19:1226505 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.612C>A (p.Phe204Leu)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001183121]\|Peutz-Jeghers syndrome [RCV001360652]	Chr19:1220595 [GRCh38] Chr19:1220594 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.224G>A (p.Arg75Lys)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001014926]\|Peutz-Jeghers syndrome [RCV001873257]	Chr19:1207137 [GRCh38] Chr19:1207136 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.-580G>A	single nucleotide variant	Peutz-Jeghers syndrome [RCV001122147]	Chr19:1206334 [GRCh38] Chr19:1206333 [GRCh37] Chr19:19p13.3	benign
NM_000455.5(STK11):c.1082T>C (p.Ile361Thr)	single nucleotide variant	Peutz-Jeghers syndrome [RCV001050898]	Chr19:1223146 [GRCh38] Chr19:1223145 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.24G>T (p.Gln8His)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001015729]	Chr19:1206937 [GRCh38] Chr19:1206936 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.-893C>T	single nucleotide variant	Peutz-Jeghers syndrome [RCV001127900]	Chr19:1206021 [GRCh38] Chr19:1206020 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.598-2A>C	single nucleotide variant	Peutz-Jeghers syndrome [RCV001041182]	Chr19:1220579 [GRCh38] Chr19:1220578 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.291-9C>G	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001184461]	Chr19:1218408 [GRCh38] Chr19:1218407 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.14A>G (p.Asp5Gly)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002391119]\|Peutz-Jeghers syndrome [RCV001041297]	Chr19:1206927 [GRCh38] Chr19:1206926 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.115CGC[1] (p.Arg40del)	microsatellite	Hereditary cancer-predisposing syndrome [RCV002339692]\|Peutz-Jeghers syndrome [RCV001248225]	Chr19:1207028..1207030 [GRCh38] Chr19:1207027..1207029 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.279C>T (p.Ala93=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001016368]\|Peutz-Jeghers syndrome [RCV003617877]	Chr19:1207192 [GRCh38] Chr19:1207191 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.277G>A (p.Ala93Thr)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001016585]\|Peutz-Jeghers syndrome [RCV001063234]	Chr19:1207190 [GRCh38] Chr19:1207189 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.17C>T (p.Pro6Leu)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001525629]\|Peutz-Jeghers syndrome [RCV001213601]	Chr19:1206930 [GRCh38] Chr19:1206929 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.291-1G>A	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001016940]	Chr19:1218416 [GRCh38] Chr19:1218415 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.1010T>C (p.Val337Ala)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001016991]\|Peutz-Jeghers syndrome [RCV001860850]	Chr19:1223074 [GRCh38] Chr19:1223073 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1091A>G (p.Gln364Arg)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001017249]\|Peutz-Jeghers syndrome [RCV001318342]	Chr19:1223155 [GRCh38] Chr19:1223154 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.836G>T (p.Gly279Val)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001017642]	Chr19:1221314 [GRCh38] Chr19:1221313 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.291G>C (p.Lys97Asn)	single nucleotide variant	Peutz-Jeghers syndrome [RCV001062565]	Chr19:1218417 [GRCh38] Chr19:1218416 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.84_97dup (p.Glu33fs)	duplication	Peutz-Jeghers syndrome [RCV001052181]	Chr19:1206989..1206990 [GRCh38] Chr19:1206988..1206989 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.291-2A>C	single nucleotide variant	Peutz-Jeghers syndrome [RCV001037969]	Chr19:1218415 [GRCh38] Chr19:1218414 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.394T>C (p.Cys132Arg)	single nucleotide variant	Peutz-Jeghers syndrome [RCV001056706]	Chr19:1219343 [GRCh38] Chr19:1219342 [GRCh37] Chr19:19p13.3	likely pathogenic\|uncertain significance
NM_000455.5(STK11):c.635C>G (p.Thr212Ser)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001025172]	Chr19:1220618 [GRCh38] Chr19:1220617 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.-302G>A	single nucleotide variant	Peutz-Jeghers syndrome [RCV001124918]	Chr19:1206612 [GRCh38] Chr19:1206611 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.460C>T (p.His154Tyr)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002339549]\|Peutz-Jeghers syndrome [RCV001211988]	Chr19:1219409 [GRCh38] Chr19:1219408 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.671_920+333del	deletion	Peutz-Jeghers syndrome [RCV001056972]	Chr19:1220653..1222338 [GRCh38] Chr19:1220652..1222337 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.675C>T (p.Ala225=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001025619]\|Peutz-Jeghers syndrome [RCV003617890]	Chr19:1220658 [GRCh38] Chr19:1220657 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.*460G>A	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002509614]\|Peutz-Jeghers syndrome [RCV001125135]	Chr19:1228036 [GRCh38] Chr19:1228035 [GRCh37] Chr19:19p13.3	benign\|likely benign
NM_000455.5(STK11):c.716G>A (p.Trp239Ter)	single nucleotide variant	Carcinoma of pancreas [RCV001197734]	Chr19:1220699 [GRCh38] Chr19:1220698 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.-774C>T	single nucleotide variant	Peutz-Jeghers syndrome [RCV001122145]	Chr19:1206140 [GRCh38] Chr19:1206139 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.682C>G (p.Leu228Val)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001025700]	Chr19:1220665 [GRCh38] Chr19:1220664 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.168G>A (p.Gly56=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001012742]\|Peutz-Jeghers syndrome [RCV001449492]	Chr19:1207081 [GRCh38] Chr19:1207080 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.1238C>G (p.Pro413Arg)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001180873]	Chr19:1226583 [GRCh38] Chr19:1226582 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.399G>C (p.Val133=)	single nucleotide variant	Peutz-Jeghers syndrome [RCV001122236]	Chr19:1219348 [GRCh38] Chr19:1219347 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.*332C>T	single nucleotide variant	Peutz-Jeghers syndrome [RCV001122346]	Chr19:1227908 [GRCh38] Chr19:1227907 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.727G>A (p.Val243Ile)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001026224]	Chr19:1220710 [GRCh38] Chr19:1220709 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.-150G>A	single nucleotide variant	Peutz-Jeghers syndrome [RCV001125890]	Chr19:1206764 [GRCh38] Chr19:1206763 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.-128G>T	single nucleotide variant	Peutz-Jeghers syndrome [RCV001125892]	Chr19:1206786 [GRCh38] Chr19:1206785 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.465-51T>C	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002327379]\|Squamous cell lung carcinoma [RCV001250932]\|not provided [RCV001692348]	Chr19:1220322 [GRCh38] Chr19:1220321 [GRCh37] Chr19:19p13.3	benign\|uncertain significance
NM_000455.5(STK11):c.598-32C>T	single nucleotide variant	Squamous cell lung carcinoma [RCV001250933]	Chr19:1220549 [GRCh38] Chr19:1220548 [GRCh37] Chr19:19p13.3	uncertain significance
NC_000019.10:g.(1207204_1218416)_(1219414_1220372)del	deletion	Peutz-Jeghers syndrome [RCV001261500]	Chr19:1218415..1219413 [GRCh37] Chr19:19p13.3	pathogenic
NC_000019.10:g.(1207203_1218415)_(1219413_1220371)del	deletion	Peutz-Jeghers syndrome [RCV001254847]	Chr19:1218415..1219413 [GRCh38] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.382G>C (p.Val128Leu)	single nucleotide variant	Peutz-Jeghers syndrome [RCV002304242]\|not provided [RCV002284646]	Chr19:1219331 [GRCh38] Chr19:1219330 [GRCh37] Chr19:19p13.3	uncertain significance
GRCh37/hg19 19p13.3(chr19:260911-2256387)x3	copy number gain	See cases [RCV002285065]	Chr19:260911..2256387 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.673G>A (p.Ala225Thr)	single nucleotide variant	Peutz-Jeghers syndrome [RCV001810015]\|not provided [RCV001284357]	Chr19:1220656 [GRCh38] Chr19:1220655 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.793dup (p.Glu265fs)	duplication	Peutz-Jeghers syndrome [RCV001258215]	Chr19:1221270..1221271 [GRCh38] Chr19:1221269..1221270 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.262A>G (p.Ile88Val)	single nucleotide variant	Peutz-Jeghers syndrome [RCV001324590]	Chr19:1207175 [GRCh38] Chr19:1207174 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.69del (p.Asp23fs)	deletion	Peutz-Jeghers syndrome [RCV001264565]	Chr19:1206982 [GRCh38] Chr19:1206981 [GRCh37] Chr19:19p13.3	likely pathogenic
NM_000455.5(STK11):c.1026G>T (p.Glu342Asp)	single nucleotide variant	Peutz-Jeghers syndrome [RCV001258216]	Chr19:1223090 [GRCh38] Chr19:1223089 [GRCh37] Chr19:19p13.3	uncertain significance
NC_000019.9:g.(?_1206903)_(1223181_?)dup	duplication	Peutz-Jeghers syndrome [RCV001327822]	Chr19:1206903..1223181 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1201A>G (p.Ser401Gly)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002350607]\|Peutz-Jeghers syndrome [RCV001326665]	Chr19:1226546 [GRCh38] Chr19:1226545 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.580G>C (p.Asp194His)	single nucleotide variant	Peutz-Jeghers syndrome [RCV001327886]\|not provided [RCV002070151]	Chr19:1220488 [GRCh38] Chr19:1220487 [GRCh37] Chr19:19p13.3	likely pathogenic\|uncertain significance
NM_000455.5(STK11):c.961C>A (p.Pro321Thr)	single nucleotide variant	Peutz-Jeghers syndrome [RCV001296274]	Chr19:1223025 [GRCh38] Chr19:1223024 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.359A>C (p.Glu120Ala)	single nucleotide variant	Peutz-Jeghers syndrome [RCV001307294]	Chr19:1218485 [GRCh38] Chr19:1218484 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.725G>T (p.Gly242Val)	single nucleotide variant	Peutz-Jeghers syndrome [RCV001289560]	Chr19:1220708 [GRCh38] Chr19:1220707 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.506G>A (p.Ser169Asn)	single nucleotide variant	Peutz-Jeghers syndrome [RCV001303341]	Chr19:1220414 [GRCh38] Chr19:1220413 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1225C>A (p.Arg409=)	single nucleotide variant	Peutz-Jeghers syndrome [RCV001450345]\|not specified [RCV001293500]	Chr19:1226570 [GRCh38] Chr19:1226569 [GRCh37] Chr19:19p13.3	benign\|likely benign
NM_000455.5(STK11):c.1083C>G (p.Ile361Met)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002430078]\|Peutz-Jeghers syndrome [RCV001294825]	Chr19:1223147 [GRCh38] Chr19:1223146 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.917A>G (p.His306Arg)	single nucleotide variant	Peutz-Jeghers syndrome [RCV001318307]	Chr19:1222003 [GRCh38] Chr19:1222002 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.978A>G (p.Pro326=)	single nucleotide variant	Peutz-Jeghers syndrome [RCV001415432]	Chr19:1223042 [GRCh38] Chr19:1223041 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.825G>T (p.Pro275=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002432150]\|Peutz-Jeghers syndrome [RCV001414983]	Chr19:1221303 [GRCh38] Chr19:1221302 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.735C>T (p.Leu245=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003375262]\|Peutz-Jeghers syndrome [RCV001361424]	Chr19:1221213 [GRCh38] Chr19:1221212 [GRCh37] Chr19:19p13.3	likely benign\|uncertain significance
NM_000455.5(STK11):c.802G>A (p.Gly268Arg)	single nucleotide variant	Peutz-Jeghers syndrome [RCV001338402]	Chr19:1221280 [GRCh38] Chr19:1221279 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.274G>A (p.Glu92Lys)	single nucleotide variant	Peutz-Jeghers syndrome [RCV001361615]	Chr19:1207187 [GRCh38] Chr19:1207186 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1192G>A (p.Ala398Thr)	single nucleotide variant	Peutz-Jeghers syndrome [RCV001374210]	Chr19:1226537 [GRCh38] Chr19:1226536 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.984C>A (p.Thr328=)	single nucleotide variant	Peutz-Jeghers syndrome [RCV001413311]	Chr19:1223048 [GRCh38] Chr19:1223047 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.-2_290+1013del	deletion	Generalized juvenile polyposis/juvenile polyposis coli [RCV001358560]	Chr19:1206912..1208216 [GRCh38] Chr19:1206911..1208215 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.1113G>C (p.Gln371His)	single nucleotide variant	Peutz-Jeghers syndrome [RCV001370676]	Chr19:1226458 [GRCh38] Chr19:1226457 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.291-2_374+91del	deletion	Generalized juvenile polyposis/juvenile polyposis coli [RCV001355139]	Chr19:1218414..1218590 [GRCh38] Chr19:1218413..1218589 [GRCh37] Chr19:19p13.3	likely pathogenic
NC_000019.9:g.(?_589926)_(1401495_?)dup	duplication	Cerebral creatine deficiency syndrome [RCV001307813]	Chr19:589926..1401495 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.737A>C (p.Tyr246Ser)	single nucleotide variant	Peutz-Jeghers syndrome [RCV001327761]	Chr19:1221215 [GRCh38] Chr19:1221214 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.10G>C (p.Val4Leu)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002432012]\|Peutz-Jeghers syndrome [RCV001359808]	Chr19:1206923 [GRCh38] Chr19:1206922 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.879A>G (p.Glu293=)	single nucleotide variant	Peutz-Jeghers syndrome [RCV001397496]	Chr19:1221965 [GRCh38] Chr19:1221964 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.1193_1219del (p.Ala398_Ala406del)	deletion	Peutz-Jeghers syndrome [RCV001315112]	Chr19:1226533..1226559 [GRCh38] Chr19:1226532..1226558 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1259C>A (p.Ala420Asp)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002509659]\|Peutz-Jeghers syndrome [RCV001313487]	Chr19:1226604 [GRCh38] Chr19:1226603 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.734+3A>G	single nucleotide variant	Peutz-Jeghers syndrome [RCV001361899]	Chr19:1220720 [GRCh38] Chr19:1220719 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1266C>G (p.Ser422Arg)	single nucleotide variant	Peutz-Jeghers syndrome [RCV001315330]	Chr19:1226611 [GRCh38] Chr19:1226610 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.775A>G (p.Asn259Asp)	single nucleotide variant	Peutz-Jeghers syndrome [RCV001343441]	Chr19:1221253 [GRCh38] Chr19:1221252 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.448G>C (p.Val150Leu)	single nucleotide variant	Peutz-Jeghers syndrome [RCV001322781]	Chr19:1219397 [GRCh38] Chr19:1219396 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.112C>T (p.Pro38Ser)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002322224]\|Peutz-Jeghers syndrome [RCV001315492]	Chr19:1207025 [GRCh38] Chr19:1207024 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.11T>C (p.Val4Ala)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002350638]\|Peutz-Jeghers syndrome [RCV001346665]	Chr19:1206924 [GRCh38] Chr19:1206923 [GRCh37] Chr19:19p13.3	likely benign\|uncertain significance
NM_000455.5(STK11):c.1226G>T (p.Arg409Leu)	single nucleotide variant	Melanoma, cutaneous malignant, susceptibility to, 1 [RCV003469535]\|Peutz-Jeghers syndrome [RCV001309659]	Chr19:1226571 [GRCh38] Chr19:1226570 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.946G>T (p.Ala316Ser)	single nucleotide variant	not specified [RCV001269188]	Chr19:1223010 [GRCh38] Chr19:1223009 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.281A>G (p.Asn94Ser)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003169927]\|Peutz-Jeghers syndrome [RCV001374106]	Chr19:1207194 [GRCh38] Chr19:1207193 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.374+6C>T	single nucleotide variant	Peutz-Jeghers syndrome [RCV001341086]	Chr19:1218506 [GRCh38] Chr19:1218505 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.818C>T (p.Ala273Val)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003166854]\|Melanoma, cutaneous malignant, susceptibility to, 1 [RCV003462893]\|Peutz-Jeghers syndrome [RCV001320760]\|not provided [RCV001773639]	Chr19:1221296 [GRCh38] Chr19:1221295 [GRCh37] Chr19:19p13.3	likely benign\|uncertain significance
NM_000455.5(STK11):c.504T>A (p.His168Gln)	single nucleotide variant	Peutz-Jeghers syndrome [RCV001344173]	Chr19:1220412 [GRCh38] Chr19:1220411 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.205T>C (p.Ser69Pro)	single nucleotide variant	Peutz-Jeghers syndrome [RCV001345194]	Chr19:1207118 [GRCh38] Chr19:1207117 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.290+4A>T	single nucleotide variant	Peutz-Jeghers syndrome [RCV001347608]	Chr19:1207207 [GRCh38] Chr19:1207206 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1127A>T (p.Glu376Val)	single nucleotide variant	Peutz-Jeghers syndrome [RCV001344447]	Chr19:1226472 [GRCh38] Chr19:1226471 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1156C>T (p.Leu386Phe)	single nucleotide variant	Peutz-Jeghers syndrome [RCV001363749]	Chr19:1226501 [GRCh38] Chr19:1226500 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.940C>G (p.Pro314Ala)	single nucleotide variant	Peutz-Jeghers syndrome [RCV001364375]	Chr19:1223004 [GRCh38] Chr19:1223003 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1234A>G (p.Asn412Asp)	single nucleotide variant	Peutz-Jeghers syndrome [RCV001364454]	Chr19:1226579 [GRCh38] Chr19:1226578 [GRCh37] Chr19:19p13.3	uncertain significance
NC_000019.9:g.(?_1206913)_(1226646_?)dup	duplication	Peutz-Jeghers syndrome [RCV001343351]	Chr19:1206913..1226646 [GRCh37] Chr19:19p13.3	uncertain significance
NC_000019.9:g.(?_1206913)_(1222015_?)dup	duplication	Peutz-Jeghers syndrome [RCV001299580]	Chr19:1206913..1222015 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.898ATCCGGCAG[3] (p.300IRQ[3])	microsatellite	Peutz-Jeghers syndrome [RCV001360209]	Chr19:1221983..1221984 [GRCh38] Chr19:1221982..1221983 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.367C>G (p.Gln123Glu)	single nucleotide variant	Peutz-Jeghers syndrome [RCV001366748]	Chr19:1218493 [GRCh38] Chr19:1218492 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.829G>T (p.Asp277Tyr)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002431954]\|Peutz-Jeghers syndrome [RCV001340811]	Chr19:1221307 [GRCh38] Chr19:1221306 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1140T>G (p.Asn380Lys)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002456462]\|Peutz-Jeghers syndrome [RCV001327417]	Chr19:1226485 [GRCh38] Chr19:1226484 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1061T>C (p.Phe354Ser)	single nucleotide variant	Peutz-Jeghers syndrome [RCV001351269]	Chr19:1223125 [GRCh38] Chr19:1223124 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.70A>G (p.Thr24Ala)	single nucleotide variant	Peutz-Jeghers syndrome [RCV001371939]	Chr19:1206983 [GRCh38] Chr19:1206982 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.147C>T (p.Tyr49=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001525031]\|Peutz-Jeghers syndrome [RCV001501265]\|not provided [RCV001815571]	Chr19:1207060 [GRCh38] Chr19:1207059 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.567C>T (p.Thr189=)	single nucleotide variant	Peutz-Jeghers syndrome [RCV001412944]	Chr19:1220475 [GRCh38] Chr19:1220474 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.1109-4C>A	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001525825]\|Peutz-Jeghers syndrome [RCV001474572]	Chr19:1226450 [GRCh38] Chr19:1226449 [GRCh37] Chr19:19p13.3	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_000455.5(STK11):c.734+14C>A	single nucleotide variant	Carcinoma of colon [RCV001356903]\|Peutz-Jeghers syndrome [RCV002070234]	Chr19:1220731 [GRCh38] Chr19:1220730 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.472T>C (p.Cys158Arg)	single nucleotide variant	Peutz-Jeghers syndrome [RCV001350556]\|not provided [RCV001762604]	Chr19:1220380 [GRCh38] Chr19:1220379 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.29G>T (p.Gly10Val)	single nucleotide variant	Peutz-Jeghers syndrome [RCV001337492]	Chr19:1206942 [GRCh38] Chr19:1206941 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.343G>A (p.Asp115Asn)	single nucleotide variant	Peutz-Jeghers syndrome [RCV001365889]	Chr19:1218469 [GRCh38] Chr19:1218468 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.627C>A (p.Thr209=)	single nucleotide variant	Peutz-Jeghers syndrome [RCV001482191]	Chr19:1220610 [GRCh38] Chr19:1220609 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.909C>T (p.Ile303=)	single nucleotide variant	Peutz-Jeghers syndrome [RCV001492467]	Chr19:1221995 [GRCh38] Chr19:1221994 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.960G>T (p.Val320=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002384831]\|Peutz-Jeghers syndrome [RCV001496400]	Chr19:1223024 [GRCh38] Chr19:1223023 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.597+8C>A	single nucleotide variant	Peutz-Jeghers syndrome [RCV001503003]	Chr19:1220513 [GRCh38] Chr19:1220512 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.1109-7C>G	single nucleotide variant	Peutz-Jeghers syndrome [RCV001430762]	Chr19:1226447 [GRCh38] Chr19:1226446 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.981C>T (p.Asp327=)	single nucleotide variant	Peutz-Jeghers syndrome [RCV001400020]	Chr19:1223045 [GRCh38] Chr19:1223044 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.1024_1027del (p.Glu342fs)	deletion	Peutz-Jeghers syndrome [RCV001380657]	Chr19:1223087..1223090 [GRCh38] Chr19:1223086..1223089 [GRCh37] Chr19:19p13.3	pathogenic\|uncertain significance
NM_000455.5(STK11):c.102C>G (p.Val34=)	single nucleotide variant	Peutz-Jeghers syndrome [RCV001488820]	Chr19:1207015 [GRCh38] Chr19:1207014 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.1098C>T (p.Phe366=)	single nucleotide variant	Peutz-Jeghers syndrome [RCV001462780]	Chr19:1223162 [GRCh38] Chr19:1223161 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.863-1G>C	single nucleotide variant	Peutz-Jeghers syndrome [RCV001376748]	Chr19:1221948 [GRCh38] Chr19:1221947 [GRCh37] Chr19:19p13.3	likely pathogenic
NM_000455.5(STK11):c.593C>A (p.Ala198Asp)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001525181]	Chr19:1220501 [GRCh38] Chr19:1220500 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.354_362del (p.Tyr118_Glu121delinsTer)	deletion	Peutz-Jeghers syndrome [RCV001386418]	Chr19:1218479..1218487 [GRCh38] Chr19:1218478..1218486 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.1185A>T (p.Thr395=)	single nucleotide variant	Peutz-Jeghers syndrome [RCV001500786]	Chr19:1226530 [GRCh38] Chr19:1226529 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.735-4G>A	single nucleotide variant	Peutz-Jeghers syndrome [RCV001448548]	Chr19:1221209 [GRCh38] Chr19:1221208 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.291-1G>C	single nucleotide variant	Peutz-Jeghers syndrome [RCV001389316]	Chr19:1218416 [GRCh38] Chr19:1218415 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.334C>T (p.Gln112Ter)	single nucleotide variant	Peutz-Jeghers syndrome [RCV001389317]	Chr19:1218460 [GRCh38] Chr19:1218459 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.464+1dup	duplication	Peutz-Jeghers syndrome [RCV001389318]	Chr19:1219411..1219412 [GRCh38] Chr19:1219410..1219411 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.145dup (p.Tyr49fs)	duplication	Peutz-Jeghers syndrome [RCV001389758]	Chr19:1207057..1207058 [GRCh38] Chr19:1207056..1207057 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.199C>T (p.Leu67=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003160678]\|Peutz-Jeghers syndrome [RCV001418658]	Chr19:1207112 [GRCh38] Chr19:1207111 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.608_627del (p.Pro203fs)	deletion	Peutz-Jeghers syndrome [RCV001389447]	Chr19:1220587..1220606 [GRCh38] Chr19:1220586..1220605 [GRCh37] Chr19:19p13.3	pathogenic
NC_000019.9:g.(?_1206907)_(1226652_?)del	deletion	Peutz-Jeghers syndrome [RCV001389609]	Chr19:1206907..1226652 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.120C>G (p.Arg40=)	single nucleotide variant	Peutz-Jeghers syndrome [RCV001417771]	Chr19:1207033 [GRCh38] Chr19:1207032 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.1080C>T (p.Ile360=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002420916]\|Peutz-Jeghers syndrome [RCV001410238]	Chr19:1223144 [GRCh38] Chr19:1223143 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.852C>T (p.Asp284=)	single nucleotide variant	Peutz-Jeghers syndrome [RCV001430785]	Chr19:1221330 [GRCh38] Chr19:1221329 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.87C>T (p.Ile29=)	single nucleotide variant	Peutz-Jeghers syndrome [RCV001444694]	Chr19:1207000 [GRCh38] Chr19:1206999 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.912G>T (p.Arg304=)	single nucleotide variant	Peutz-Jeghers syndrome [RCV001440220]	Chr19:1221998 [GRCh38] Chr19:1221997 [GRCh37] Chr19:19p13.3	likely benign
NC_000019.9:g.(?_1218406)_1222985del	deletion	Peutz-Jeghers syndrome [RCV001376784]		likely pathogenic
NM_000455.5(STK11):c.640_653del (p.Gln214fs)	deletion	Peutz-Jeghers syndrome [RCV001386590]	Chr19:1220621..1220634 [GRCh38] Chr19:1220620..1220633 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.1176G>A (p.Met392Ile)	single nucleotide variant	Peutz-Jeghers syndrome [RCV001427215]	Chr19:1226521 [GRCh38] Chr19:1226520 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.1010_1011del (p.Val337fs)	microsatellite	Peutz-Jeghers syndrome [RCV001391230]	Chr19:1223072..1223073 [GRCh38] Chr19:1223071..1223072 [GRCh37] Chr19:19p13.3	pathogenic
NC_000019.9:g.(?_1206913)_(1207212_?)del	deletion	Peutz-Jeghers syndrome [RCV001386945]	Chr19:1206913..1207212 [GRCh37] Chr19:19p13.3	pathogenic
NC_000019.9:g.(?_1206903)_(1207212_?)del	deletion	Peutz-Jeghers syndrome [RCV001386946]	Chr19:1206903..1207212 [GRCh37] Chr19:19p13.3	pathogenic
NC_000019.9:g.(?_1220366)_(1220510_?)del	deletion	Peutz-Jeghers syndrome [RCV001386947]	Chr19:1220366..1220510 [GRCh37] Chr19:19p13.3	pathogenic
NC_000019.9:g.(?_1218406)_(1219422_?)del	deletion	Peutz-Jeghers syndrome [RCV001386948]	Chr19:1218406..1219422 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.291-4C>T	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003584939]\|Peutz-Jeghers syndrome [RCV001424517]	Chr19:1218413 [GRCh38] Chr19:1218412 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.332_333insG (p.Ile111fs)	insertion	Peutz-Jeghers syndrome [RCV001387076]	Chr19:1218458..1218459 [GRCh38] Chr19:1218457..1218458 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.675C>G (p.Ala225=)	single nucleotide variant	Peutz-Jeghers syndrome [RCV001409203]	Chr19:1220658 [GRCh38] Chr19:1220657 [GRCh37] Chr19:19p13.3	likely benign
NC_000019.9:g.(?_1223158)_1224401del	deletion	Peutz-Jeghers syndrome [RCV001387095]		pathogenic
NC_000019.9:g.(?_1220652)_1222337del	deletion	Peutz-Jeghers syndrome [RCV001387096]		pathogenic
NC_000019.9:g.(?_1221107)_(1227749_?)del	deletion	Peutz-Jeghers syndrome [RCV001384701]	Chr19:1221107..1227749 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.969A>C (p.Pro323=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002377661]\|Peutz-Jeghers syndrome [RCV001419888]	Chr19:1223033 [GRCh38] Chr19:1223032 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.597+9G>T	single nucleotide variant	Peutz-Jeghers syndrome [RCV001438427]	Chr19:1220514 [GRCh38] Chr19:1220513 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.378T>C (p.Tyr126=)	single nucleotide variant	Peutz-Jeghers syndrome [RCV001443371]	Chr19:1219327 [GRCh38] Chr19:1219326 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.*34C>A	single nucleotide variant	not provided [RCV001653214]	Chr19:1227610 [GRCh38] Chr19:1227609 [GRCh37] Chr19:19p13.3	benign
NM_000455.5(STK11):c.*16+239G>T	single nucleotide variant	not provided [RCV001684172]	Chr19:1226902 [GRCh38] Chr19:1226901 [GRCh37] Chr19:19p13.3	benign
NM_000455.5(STK11):c.*16+217A>C	single nucleotide variant	not provided [RCV001655437]	Chr19:1226880 [GRCh38] Chr19:1226879 [GRCh37] Chr19:19p13.3	benign
NM_000455.5(STK11):c.*16+110C>T	single nucleotide variant	not provided [RCV001675560]	Chr19:1226773 [GRCh38] Chr19:1226772 [GRCh37] Chr19:19p13.3	benign
NM_000455.5(STK11):c.237C>A (p.Ile79=)	single nucleotide variant	Peutz-Jeghers syndrome [RCV001476141]	Chr19:1207150 [GRCh38] Chr19:1207149 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.729C>A (p.Val243=)	single nucleotide variant	Peutz-Jeghers syndrome [RCV001466028]	Chr19:1220712 [GRCh38] Chr19:1220711 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.*16+6del	deletion	not provided [RCV001694035]	Chr19:1226666 [GRCh38] Chr19:1226665 [GRCh37] Chr19:19p13.3	benign
NM_000455.5(STK11):c.863-295G>A	single nucleotide variant	not provided [RCV001617304]	Chr19:1221654 [GRCh38] Chr19:1221653 [GRCh37] Chr19:19p13.3	benign
NM_000455.5(STK11):c.708G>T (p.Val236=)	single nucleotide variant	Peutz-Jeghers syndrome [RCV001470297]	Chr19:1220691 [GRCh38] Chr19:1220690 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.*16+234G>C	single nucleotide variant	not provided [RCV001585085]	Chr19:1226897 [GRCh38] Chr19:1226896 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.-48C>T	single nucleotide variant	not provided [RCV001715639]	Chr19:1206866 [GRCh38] Chr19:1206865 [GRCh37] Chr19:19p13.3	benign
NM_000455.5(STK11):c.570C>G (p.Leu190=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002350913]\|Peutz-Jeghers syndrome [RCV001452769]	Chr19:1220478 [GRCh38] Chr19:1220477 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.968C>T (p.Pro323Leu)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001524461]	Chr19:1223032 [GRCh38] Chr19:1223031 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.*70C>G	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001706962]	Chr19:1227646 [GRCh38] Chr19:1227645 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.654T>A (p.Ala218=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001526275]\|Peutz-Jeghers syndrome [RCV001428496]	Chr19:1220637 [GRCh38] Chr19:1220636 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.889_890del (p.Arg297fs)	microsatellite	Peutz-Jeghers syndrome [RCV001381098]	Chr19:1221973..1221974 [GRCh38] Chr19:1221972..1221973 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.1215G>A (p.Arg405=)	single nucleotide variant	Peutz-Jeghers syndrome [RCV001495641]	Chr19:1226560 [GRCh38] Chr19:1226559 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.27G>T (p.Leu9=)	single nucleotide variant	Peutz-Jeghers syndrome [RCV001502149]	Chr19:1206940 [GRCh38] Chr19:1206939 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.1161C>A (p.Pro387=)	single nucleotide variant	Peutz-Jeghers syndrome [RCV001506128]	Chr19:1226506 [GRCh38] Chr19:1226505 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.345T>C (p.Asp115=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002334565]\|Peutz-Jeghers syndrome [RCV001506864]\|not provided [RCV001806214]	Chr19:1218471 [GRCh38] Chr19:1218470 [GRCh37] Chr19:19p13.3	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_000455.5(STK11):c.855G>C (p.Leu285=)	single nucleotide variant	Peutz-Jeghers syndrome [RCV001403737]	Chr19:1221333 [GRCh38] Chr19:1221332 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.579C>G (p.Ser193=)	single nucleotide variant	Peutz-Jeghers syndrome [RCV001440493]	Chr19:1220487 [GRCh38] Chr19:1220486 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.1260C>A (p.Ala420=)	single nucleotide variant	Peutz-Jeghers syndrome [RCV001485101]	Chr19:1226605 [GRCh38] Chr19:1226604 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.1109-3del	deletion	Peutz-Jeghers syndrome [RCV001398259]	Chr19:1226449 [GRCh38] Chr19:1226448 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.258A>G (p.Arg86=)	single nucleotide variant	Peutz-Jeghers syndrome [RCV001436797]	Chr19:1207171 [GRCh38] Chr19:1207170 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.348G>C (p.Val116=)	single nucleotide variant	Peutz-Jeghers syndrome [RCV001463385]	Chr19:1218474 [GRCh38] Chr19:1218473 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.465-11G>C	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001524145]	Chr19:1220362 [GRCh38] Chr19:1220361 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.734+1G>A	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002384545]\|Peutz-Jeghers syndrome [RCV001380249]	Chr19:1220718 [GRCh38] Chr19:1220717 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.558C>G (p.Thr186=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003584924]\|Peutz-Jeghers syndrome [RCV001404827]	Chr19:1220466 [GRCh38] Chr19:1220465 [GRCh37] Chr19:19p13.3	likely benign
NC_000019.9:g.(?_1218406)_(1218509_?)del	deletion	Peutz-Jeghers syndrome [RCV001384398]	Chr19:1218406..1218509 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.951A>G (p.Glu317=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002377854]\|Peutz-Jeghers syndrome [RCV001494565]	Chr19:1223015 [GRCh38] Chr19:1223014 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.375-9G>C	single nucleotide variant	Peutz-Jeghers syndrome [RCV001459698]	Chr19:1219315 [GRCh38] Chr19:1219314 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.240C>T (p.Leu80=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002258246]\|Peutz-Jeghers syndrome [RCV001424516]\|STK11-related condition [RCV003946111]	Chr19:1207153 [GRCh38] Chr19:1207152 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.788T>A (p.Leu263Ter)	single nucleotide variant	Peutz-Jeghers syndrome [RCV001384681]	Chr19:1221266 [GRCh38] Chr19:1221265 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.540G>A (p.Gly180=)	single nucleotide variant	Peutz-Jeghers syndrome [RCV001484104]	Chr19:1220448 [GRCh38] Chr19:1220447 [GRCh37] Chr19:19p13.3	likely benign
NC_000019.9:g.(?_1204415)_1207036del	deletion	Peutz-Jeghers syndrome [RCV001384702]		pathogenic
NM_000455.5(STK11):c.*16+6G>A	single nucleotide variant	not specified [RCV002246853]	Chr19:1226669 [GRCh38] Chr19:1226668 [GRCh37] Chr19:19p13.3	benign
NM_000455.5(STK11):c.179_180insAA (p.Tyr60Ter)	insertion	Hereditary cancer-predisposing syndrome [RCV002257205]	Chr19:1207091..1207092 [GRCh38] Chr19:1207090..1207091 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.*475C>T	single nucleotide variant	not provided [RCV001727063]	Chr19:1228051 [GRCh38] Chr19:1228050 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.784A>T (p.Lys262Ter)	single nucleotide variant	Melanoma, cutaneous malignant, susceptibility to, 1 [RCV002246746]	Chr19:1221262 [GRCh38] Chr19:1221261 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.*17-6C>G	single nucleotide variant	not specified [RCV002246854]	Chr19:1227587 [GRCh38] Chr19:1227586 [GRCh37] Chr19:19p13.3	benign
NM_000455.5(STK11):c.1055A>T (p.Asp352Val)	single nucleotide variant	Peutz-Jeghers syndrome [RCV003617950]\|not specified [RCV002248880]	Chr19:1223119 [GRCh38] Chr19:1223118 [GRCh37] Chr19:19p13.3	uncertain significance
NC_000019.9:g.1199801_1212900dup	duplication	Peutz-Jeghers syndrome [RCV002254856]	Chr19:1199801..1212900 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1109G>T (p.Gly370Val)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002258543]	Chr19:1226454 [GRCh38] Chr19:1226453 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.340G>T (p.Val114Leu)	single nucleotide variant	not provided [RCV001767403]	Chr19:1218466 [GRCh38] Chr19:1218465 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.634A>G (p.Thr212Ala)	single nucleotide variant	Peutz-Jeghers syndrome [RCV003771893]\|not specified [RCV001733367]	Chr19:1220617 [GRCh38] Chr19:1220616 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.543C>T (p.Asn181=)	single nucleotide variant	Breast and/or ovarian cancer [RCV001799466]\|Hereditary cancer-predisposing syndrome [RCV003299007]	Chr19:1220451 [GRCh38] Chr19:1220450 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.941C>A (p.Pro314His)	single nucleotide variant	not provided [RCV001794790]	Chr19:1223005 [GRCh38] Chr19:1223004 [GRCh37] Chr19:19p13.3	uncertain significance
NC_000019.9:g.(1222006_1223105)_(1226494_1227591)del	deletion	Peutz-Jeghers syndrome [RCV001733368]	Chr19:1223105..1226494 [GRCh37] Chr19:19p13.3	likely pathogenic
t(17;19)(q25.1;p13.3)	translocation	Adrenal cortex carcinoma [RCV001815153]	Chr17:73763652..73763653 [GRCh37] Chr19:1221964..1221965 [GRCh37] Chr17:17q25.1 Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1292A>C (p.Lys431Thr)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001805590]	Chr19:1226637 [GRCh38] Chr19:1226636 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.565A>G (p.Thr189Ala)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001805709]	Chr19:1220473 [GRCh38] Chr19:1220472 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.317G>C (p.Arg106Pro)	single nucleotide variant	not specified [RCV001820464]	Chr19:1218443 [GRCh38] Chr19:1218442 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1149C>T (p.Arg383=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002458628]\|Peutz-Jeghers syndrome [RCV003772325]\|not specified [RCV001822382]	Chr19:1226494 [GRCh38] Chr19:1226493 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.-12C>T	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001805257]	Chr19:1206902 [GRCh38] Chr19:1206901 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.740A>G (p.Asn247Ser)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001804356]\|Peutz-Jeghers syndrome [RCV001869506]	Chr19:1221218 [GRCh38] Chr19:1221217 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1206C>A (p.Thr402=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001805416]\|Peutz-Jeghers syndrome [RCV002077251]	Chr19:1226551 [GRCh38] Chr19:1226550 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.735-1G>T	single nucleotide variant	not provided [RCV001806457]	Chr19:1221212 [GRCh38] Chr19:1221211 [GRCh37] Chr19:19p13.3	not provided
NM_000455.5(STK11):c.465-6C>G	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001805557]	Chr19:1220367 [GRCh38] Chr19:1220366 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1119A>G (p.Pro373=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001805592]	Chr19:1226464 [GRCh38] Chr19:1226463 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.115C>A (p.Arg39Ser)	single nucleotide variant	not provided [RCV001806544]	Chr19:1207028 [GRCh38] Chr19:1207027 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.27G>A (p.Leu9=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001805497]\|Peutz-Jeghers syndrome [RCV002074199]	Chr19:1206940 [GRCh38] Chr19:1206939 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.863-2A>T	single nucleotide variant	not provided [RCV001806456]	Chr19:1221947 [GRCh38] Chr19:1221946 [GRCh37] Chr19:19p13.3	not provided
NM_000455.5(STK11):c.228C>A (p.Ala76=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001805700]	Chr19:1207141 [GRCh38] Chr19:1207140 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.1274G>T (p.Arg425Leu)	single nucleotide variant	Peutz-Jeghers syndrome [RCV002009034]	Chr19:1226619 [GRCh38] Chr19:1226618 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.946G>A (p.Ala316Thr)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002449486]\|Peutz-Jeghers syndrome [RCV001864265]	Chr19:1223010 [GRCh38] Chr19:1223009 [GRCh37] Chr19:19p13.3	uncertain significance
NC_000019.9:g.(?_1206913)_(1219422_?)del	deletion	Peutz-Jeghers syndrome [RCV002041847]	Chr19:1206913..1219422 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.350del (p.Leu117fs)	deletion	Peutz-Jeghers syndrome [RCV001949534]	Chr19:1218475 [GRCh38] Chr19:1218474 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.709G>A (p.Asp237Asn)	single nucleotide variant	Peutz-Jeghers syndrome [RCV002025069]	Chr19:1220692 [GRCh38] Chr19:1220691 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.356_374+1del	deletion	Peutz-Jeghers syndrome [RCV002023146]	Chr19:1218481..1218500 [GRCh38] Chr19:1218480..1218499 [GRCh37] Chr19:19p13.3	likely pathogenic
NM_000455.5(STK11):c.290+1G>C	single nucleotide variant	Peutz-Jeghers syndrome [RCV001864373]	Chr19:1207204 [GRCh38] Chr19:1207203 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.1208A>T (p.Lys403Ile)	single nucleotide variant	Peutz-Jeghers syndrome [RCV001970371]	Chr19:1226553 [GRCh38] Chr19:1226552 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1268A>G (p.Lys423Arg)	single nucleotide variant	Peutz-Jeghers syndrome [RCV001872558]	Chr19:1226613 [GRCh38] Chr19:1226612 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1193C>G (p.Ala398Gly)	single nucleotide variant	Peutz-Jeghers syndrome [RCV001913423]	Chr19:1226538 [GRCh38] Chr19:1226537 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.446C>T (p.Pro149Leu)	single nucleotide variant	Peutz-Jeghers syndrome [RCV001874781]	Chr19:1219395 [GRCh38] Chr19:1219394 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.374+18G>A	single nucleotide variant	Peutz-Jeghers syndrome [RCV001915522]	Chr19:1218518 [GRCh38] Chr19:1218517 [GRCh37] Chr19:19p13.3	likely benign\|uncertain significance
NM_000455.5(STK11):c.1270A>G (p.Ile424Val)	single nucleotide variant	Peutz-Jeghers syndrome [RCV001893040]	Chr19:1226615 [GRCh38] Chr19:1226614 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.329T>A (p.Val110Asp)	single nucleotide variant	Peutz-Jeghers syndrome [RCV001848634]	Chr19:1218455 [GRCh38] Chr19:1218454 [GRCh37] Chr19:19p13.3	likely pathogenic\|uncertain significance
NM_000455.5(STK11):c.851A>G (p.Asp284Gly)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002406942]\|Peutz-Jeghers syndrome [RCV001911825]	Chr19:1221329 [GRCh38] Chr19:1221328 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.792_793insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGCTCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCACAGTGCTGTGATTACAGGCGTGAGCCACCGCGCCCGGCCTACAAGTTGTTT (p.Glu265delinsPhePhePhePhePhePheXaaXaaXaaXaaAlaLeuLeuThrSerTer)	insertion	Peutz-Jeghers syndrome [RCV001892030]	Chr19:1221257..1221258 [GRCh38] Chr19:1221256..1221257 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.465-4_465-3dup	duplication	Peutz-Jeghers syndrome [RCV001889880]	Chr19:1220367..1220368 [GRCh38] Chr19:1220366..1220367 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.358G>C (p.Glu120Gln)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002334926]\|Peutz-Jeghers syndrome [RCV001946290]	Chr19:1218484 [GRCh38] Chr19:1218483 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.582_596del (p.Asp194_Ala198del)	deletion	Peutz-Jeghers syndrome [RCV002041100]	Chr19:1220486..1220500 [GRCh38] Chr19:1220485..1220499 [GRCh37] Chr19:19p13.3	pathogenic\|uncertain significance
NM_000455.5(STK11):c.466_477del (p.Tyr156_Gln159del)	deletion	Peutz-Jeghers syndrome [RCV002022693]	Chr19:1220373..1220384 [GRCh38] Chr19:1220372..1220383 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.735-6A>G	single nucleotide variant	Peutz-Jeghers syndrome [RCV001838842]	Chr19:1221207 [GRCh38] Chr19:1221206 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.132dup (p.Leu45fs)	duplication	Peutz-Jeghers syndrome [RCV001970180]	Chr19:1207044..1207045 [GRCh38] Chr19:1207043..1207044 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.19C>T (p.Gln7Ter)	single nucleotide variant	Peutz-Jeghers syndrome [RCV001890059]	Chr19:1206932 [GRCh38] Chr19:1206931 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.669_670del (p.Glu223fs)	microsatellite	Peutz-Jeghers syndrome [RCV001927648]	Chr19:1220650..1220651 [GRCh38] Chr19:1220649..1220650 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.1275C>T (p.Arg425=)	single nucleotide variant	Peutz-Jeghers syndrome [RCV002007444]	Chr19:1226620 [GRCh38] Chr19:1226619 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.20A>G (p.Gln7Arg)	single nucleotide variant	Peutz-Jeghers syndrome [RCV002040911]	Chr19:1206933 [GRCh38] Chr19:1206932 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.589_597+6del	deletion	Peutz-Jeghers syndrome [RCV001986006]	Chr19:1220494..1220508 [GRCh38] Chr19:1220493..1220507 [GRCh37] Chr19:19p13.3	likely pathogenic
NM_000455.5(STK11):c.1246A>G (p.Lys416Glu)	single nucleotide variant	Peutz-Jeghers syndrome [RCV002040094]	Chr19:1226591 [GRCh38] Chr19:1226590 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.389A>T (p.Glu130Val)	single nucleotide variant	Peutz-Jeghers syndrome [RCV001927175]	Chr19:1219338 [GRCh38] Chr19:1219337 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.374+5C>A	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002346328]\|Peutz-Jeghers syndrome [RCV002036479]	Chr19:1218505 [GRCh38] Chr19:1218504 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1057_1074dup (p.Leu353_Asp358dup)	duplication	Peutz-Jeghers syndrome [RCV001941187]	Chr19:1223120..1223121 [GRCh38] Chr19:1223119..1223120 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.899T>A (p.Ile300Asn)	single nucleotide variant	Peutz-Jeghers syndrome [RCV001887672]	Chr19:1221985 [GRCh38] Chr19:1221984 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.250A>C (p.Lys84Gln)	single nucleotide variant	Peutz-Jeghers syndrome [RCV001888459]	Chr19:1207163 [GRCh38] Chr19:1207162 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.921C>G (p.Ser307Arg)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002370353]\|Peutz-Jeghers syndrome [RCV002050706]	Chr19:1222985 [GRCh38] Chr19:1222984 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.37A>G (p.Thr13Ala)	single nucleotide variant	Peutz-Jeghers syndrome [RCV002034956]	Chr19:1206950 [GRCh38] Chr19:1206949 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.443T>C (p.Phe148Ser)	single nucleotide variant	Peutz-Jeghers syndrome [RCV002020035]	Chr19:1219392 [GRCh38] Chr19:1219391 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.347_350dup (p.Leu117fs)	duplication	Peutz-Jeghers syndrome [RCV001936713]	Chr19:1218472..1218473 [GRCh38] Chr19:1218471..1218472 [GRCh37] Chr19:19p13.3	pathogenic
NC_000019.9:g.(?_589946)_(1650247_?)dup	duplication	not provided [RCV001940167]	Chr19:589946..1650247 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1102G>T (p.Val368Leu)	single nucleotide variant	Peutz-Jeghers syndrome [RCV002048182]	Chr19:1223166 [GRCh38] Chr19:1223165 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1156C>A (p.Leu386Ile)	single nucleotide variant	Peutz-Jeghers syndrome [RCV001942770]	Chr19:1226501 [GRCh38] Chr19:1226500 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.976C>T (p.Pro326Ser)	single nucleotide variant	Peutz-Jeghers syndrome [RCV001944854]	Chr19:1223040 [GRCh38] Chr19:1223039 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1159C>T (p.Pro387Ser)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002352620]\|Peutz-Jeghers syndrome [RCV001978658]	Chr19:1226504 [GRCh38] Chr19:1226503 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.278C>T (p.Ala93Val)	single nucleotide variant	Peutz-Jeghers syndrome [RCV001886713]	Chr19:1207191 [GRCh38] Chr19:1207190 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1087A>C (p.Thr363Pro)	single nucleotide variant	Peutz-Jeghers syndrome [RCV002000521]	Chr19:1223151 [GRCh38] Chr19:1223150 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.374+12G>A	single nucleotide variant	Peutz-Jeghers syndrome [RCV001962635]	Chr19:1218512 [GRCh38] Chr19:1218511 [GRCh37] Chr19:19p13.3	likely benign\|uncertain significance
NM_000455.5(STK11):c.583del (p.Leu195fs)	deletion	Peutz-Jeghers syndrome [RCV001888255]	Chr19:1220490 [GRCh38] Chr19:1220489 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.454C>T (p.Gln152Ter)	single nucleotide variant	Peutz-Jeghers syndrome [RCV001951192]	Chr19:1219403 [GRCh38] Chr19:1219402 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.867G>A (p.Met289Ile)	single nucleotide variant	Peutz-Jeghers syndrome [RCV001963601]	Chr19:1221953 [GRCh38] Chr19:1221952 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.218G>A (p.Cys73Tyr)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002423207]\|Peutz-Jeghers syndrome [RCV002010022]	Chr19:1207131 [GRCh38] Chr19:1207130 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1044C>G (p.Asp348Glu)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002397903]\|Peutz-Jeghers syndrome [RCV001925838]	Chr19:1223108 [GRCh38] Chr19:1223107 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.916C>T (p.His306Tyr)	single nucleotide variant	Peutz-Jeghers syndrome [RCV001878747]	Chr19:1222002 [GRCh38] Chr19:1222001 [GRCh37] Chr19:19p13.3	pathogenic
NC_000019.9:g.(?_1050900)_(1242628_?)dup	duplication	not provided [RCV001917717]	Chr19:1050900..1242628 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.477G>C (p.Gln159His)	single nucleotide variant	Peutz-Jeghers syndrome [RCV001882277]	Chr19:1220385 [GRCh38] Chr19:1220384 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.826G>A (p.Gly276Ser)	single nucleotide variant	Peutz-Jeghers syndrome [RCV001877557]	Chr19:1221304 [GRCh38] Chr19:1221303 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1068C>A (p.Ile356=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002406970]\|Peutz-Jeghers syndrome [RCV001899280]	Chr19:1223132 [GRCh38] Chr19:1223131 [GRCh37] Chr19:19p13.3	likely benign\|uncertain significance
NM_000455.5(STK11):c.109dup (p.Gln37fs)	duplication	Peutz-Jeghers syndrome [RCV001994478]	Chr19:1207020..1207021 [GRCh38] Chr19:1207019..1207020 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.986A>G (p.Lys329Arg)	single nucleotide variant	Peutz-Jeghers syndrome [RCV002027126]	Chr19:1223050 [GRCh38] Chr19:1223049 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1171T>G (p.Cys391Gly)	single nucleotide variant	Peutz-Jeghers syndrome [RCV001881739]	Chr19:1226516 [GRCh38] Chr19:1226515 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.29dup (p.Met11fs)	duplication	Melanoma, cutaneous malignant, susceptibility to, 1 [RCV003464277]\|Peutz-Jeghers syndrome [RCV001992664]	Chr19:1206939..1206940 [GRCh38] Chr19:1206938..1206939 [GRCh37] Chr19:19p13.3	pathogenic\|likely pathogenic
NM_000455.5(STK11):c.300A>T (p.Gln100His)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003170207]\|Peutz-Jeghers syndrome [RCV001956581]	Chr19:1218426 [GRCh38] Chr19:1218425 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.621C>G (p.Asp207Glu)	single nucleotide variant	Peutz-Jeghers syndrome [RCV002027369]	Chr19:1220604 [GRCh38] Chr19:1220603 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.865A>T (p.Met289Leu)	single nucleotide variant	Peutz-Jeghers syndrome [RCV002051145]	Chr19:1221951 [GRCh38] Chr19:1221950 [GRCh37] Chr19:19p13.3	uncertain significance
NC_000019.9:g.(?_1206913)_(1223181_?)del	deletion	Peutz-Jeghers syndrome [RCV001953815]	Chr19:1206913..1223181 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.1189G>A (p.Ala397Thr)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003365554]\|Peutz-Jeghers syndrome [RCV001933320]	Chr19:1226534 [GRCh38] Chr19:1226533 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.212C>T (p.Thr71Met)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002423247]\|Peutz-Jeghers syndrome [RCV002013897]	Chr19:1207125 [GRCh38] Chr19:1207124 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.16C>T (p.Pro6Ser)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002407038]\|Peutz-Jeghers syndrome [RCV001898858]	Chr19:1206929 [GRCh38] Chr19:1206928 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1240G>A (p.Ala414Thr)	single nucleotide variant	Peutz-Jeghers syndrome [RCV001957499]	Chr19:1226585 [GRCh38] Chr19:1226584 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.296T>C (p.Ile99Thr)	single nucleotide variant	Peutz-Jeghers syndrome [RCV001884949]	Chr19:1218422 [GRCh38] Chr19:1218421 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.914A>G (p.Gln305Arg)	single nucleotide variant	Peutz-Jeghers syndrome [RCV001992270]\|not specified [RCV003321892]	Chr19:1222000 [GRCh38] Chr19:1221999 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.328del (p.Val110fs)	deletion	Peutz-Jeghers syndrome [RCV001994600]	Chr19:1218454 [GRCh38] Chr19:1218453 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.820A>C (p.Ile274Leu)	single nucleotide variant	Peutz-Jeghers syndrome [RCV001980574]	Chr19:1221298 [GRCh38] Chr19:1221297 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.417G>A (p.Met139Ile)	single nucleotide variant	Peutz-Jeghers syndrome [RCV001997013]	Chr19:1219366 [GRCh38] Chr19:1219365 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.337C>A (p.Leu113Met)	single nucleotide variant	Peutz-Jeghers syndrome [RCV001979453]	Chr19:1218463 [GRCh38] Chr19:1218462 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.254_255insCT (p.Leu85fs)	insertion	Peutz-Jeghers syndrome [RCV001925106]	Chr19:1207166..1207167 [GRCh38] Chr19:1207165..1207166 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.1015C>T (p.Pro339Ser)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002334795]\|Peutz-Jeghers syndrome [RCV001886305]	Chr19:1223079 [GRCh38] Chr19:1223078 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.815A>G (p.Tyr272Cys)	single nucleotide variant	Peutz-Jeghers syndrome [RCV001885787]	Chr19:1221293 [GRCh38] Chr19:1221292 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.956C>A (p.Pro319Gln)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002386880]\|Peutz-Jeghers syndrome [RCV002020029]	Chr19:1223020 [GRCh38] Chr19:1223019 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.373A>G (p.Met125Val)	single nucleotide variant	Peutz-Jeghers syndrome [RCV001961565]	Chr19:1218499 [GRCh38] Chr19:1218498 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.67G>A (p.Asp23Asn)	single nucleotide variant	Peutz-Jeghers syndrome [RCV001991318]	Chr19:1206980 [GRCh38] Chr19:1206979 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.955C>T (p.Pro319Ser)	single nucleotide variant	Peutz-Jeghers syndrome [RCV001867506]	Chr19:1223019 [GRCh38] Chr19:1223018 [GRCh37] Chr19:19p13.3	uncertain significance
NC_000019.9:g.(?_1219313)_(1219422_?)del	deletion	Peutz-Jeghers syndrome [RCV002019518]	Chr19:1219313..1219422 [GRCh37] Chr19:19p13.3	likely pathogenic
NM_000455.5(STK11):c.597+2T>A	single nucleotide variant	Peutz-Jeghers syndrome [RCV001864977]	Chr19:1220507 [GRCh38] Chr19:1220506 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.1137C>A (p.His379Gln)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003585160]\|Peutz-Jeghers syndrome [RCV001972217]	Chr19:1226482 [GRCh38] Chr19:1226481 [GRCh37] Chr19:19p13.3	uncertain significance
NC_000019.9:g.(?_1221202)_(1221349_?)del	deletion	Peutz-Jeghers syndrome [RCV001951261]	Chr19:1221202..1221349 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.841_842dup (p.Leu282fs)	duplication	Peutz-Jeghers syndrome [RCV001904379]	Chr19:1221314..1221315 [GRCh38] Chr19:1221313..1221314 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.141dup (p.Lys48fs)	duplication	Peutz-Jeghers syndrome [RCV001877147]	Chr19:1207053..1207054 [GRCh38] Chr19:1207052..1207053 [GRCh37] Chr19:19p13.3	pathogenic\|likely pathogenic
NM_000455.5(STK11):c.442T>A (p.Phe148Ile)	single nucleotide variant	Peutz-Jeghers syndrome [RCV002046474]	Chr19:1219391 [GRCh38] Chr19:1219390 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.587G>C (p.Gly196Ala)	single nucleotide variant	Peutz-Jeghers syndrome [RCV001979392]	Chr19:1220495 [GRCh38] Chr19:1220494 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.566C>G (p.Thr189Ser)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002344107]\|Peutz-Jeghers syndrome [RCV001980120]	Chr19:1220474 [GRCh38] Chr19:1220473 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.940_941del (p.Pro314fs)	deletion	Peutz-Jeghers syndrome [RCV001916542]	Chr19:1223004..1223005 [GRCh38] Chr19:1223003..1223004 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.38C>G (p.Thr13Arg)	single nucleotide variant	Peutz-Jeghers syndrome [RCV001897931]	Chr19:1206951 [GRCh38] Chr19:1206950 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.863-5del	deletion	Peutz-Jeghers syndrome [RCV001938789]	Chr19:1221943 [GRCh38] Chr19:1221942 [GRCh37] Chr19:19p13.3	likely benign\|uncertain significance
NM_000455.5(STK11):c.974G>C (p.Ser325Thr)	single nucleotide variant	Peutz-Jeghers syndrome [RCV001999321]	Chr19:1223038 [GRCh38] Chr19:1223037 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.958G>T (p.Val320Leu)	single nucleotide variant	Peutz-Jeghers syndrome [RCV001884652]	Chr19:1223022 [GRCh38] Chr19:1223021 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.823C>T (p.Pro275Ser)	single nucleotide variant	Peutz-Jeghers syndrome [RCV002030538]	Chr19:1221301 [GRCh38] Chr19:1221300 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.898ATCCGGCAG[1] (p.300IRQ[1])	microsatellite	Peutz-Jeghers syndrome [RCV002016309]	Chr19:1221984..1221992 [GRCh38] Chr19:1221983..1221991 [GRCh37] Chr19:19p13.3	pathogenic\|likely pathogenic
NM_000455.5(STK11):c.1167C>A (p.Ala389=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002331353]\|Peutz-Jeghers syndrome [RCV002047192]	Chr19:1226512 [GRCh38] Chr19:1226511 [GRCh37] Chr19:19p13.3	likely benign\|uncertain significance
NM_000455.5(STK11):c.166G>T (p.Gly56Trp)	single nucleotide variant	Peutz-Jeghers syndrome [RCV002047368]	Chr19:1207079 [GRCh38] Chr19:1207078 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.487_490dup (p.Leu164fs)	duplication	Peutz-Jeghers syndrome [RCV001972514]	Chr19:1220393..1220394 [GRCh38] Chr19:1220392..1220393 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.920+9C>G	single nucleotide variant	Peutz-Jeghers syndrome [RCV002111997]	Chr19:1222015 [GRCh38] Chr19:1222014 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.351A>G (p.Leu117=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002454453]\|Peutz-Jeghers syndrome [RCV002109387]\|STK11-related condition [RCV003895786]	Chr19:1218477 [GRCh38] Chr19:1218476 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.1155C>T (p.Gly385=)	single nucleotide variant	Peutz-Jeghers syndrome [RCV002187553]	Chr19:1226500 [GRCh38] Chr19:1226499 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.863-15C>A	single nucleotide variant	Peutz-Jeghers syndrome [RCV002088594]	Chr19:1221934 [GRCh38] Chr19:1221933 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.920+9C>T	single nucleotide variant	Peutz-Jeghers syndrome [RCV002085086]	Chr19:1222015 [GRCh38] Chr19:1222014 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.375-16_375-15delinsCC	indel	Peutz-Jeghers syndrome [RCV002146817]	Chr19:1219308..1219309 [GRCh38] Chr19:1219307..1219308 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.1109-16G>A	single nucleotide variant	Peutz-Jeghers syndrome [RCV002207571]	Chr19:1226438 [GRCh38] Chr19:1226437 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.375-20G>A	single nucleotide variant	Peutz-Jeghers syndrome [RCV002124338]	Chr19:1219304 [GRCh38] Chr19:1219303 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.465-15G>A	single nucleotide variant	Peutz-Jeghers syndrome [RCV002107794]	Chr19:1220358 [GRCh38] Chr19:1220357 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.570C>T (p.Leu190=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002346417]\|Peutz-Jeghers syndrome [RCV002111411]	Chr19:1220478 [GRCh38] Chr19:1220477 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.734+13C>G	single nucleotide variant	Peutz-Jeghers syndrome [RCV002126524]	Chr19:1220730 [GRCh38] Chr19:1220729 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.597+15G>C	single nucleotide variant	Peutz-Jeghers syndrome [RCV002089640]	Chr19:1220520 [GRCh38] Chr19:1220519 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.290+20G>A	single nucleotide variant	Peutz-Jeghers syndrome [RCV002169679]	Chr19:1207223 [GRCh38] Chr19:1207222 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.450G>C (p.Val150=)	single nucleotide variant	Peutz-Jeghers syndrome [RCV002084684]	Chr19:1219399 [GRCh38] Chr19:1219398 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.231C>G (p.Val77=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002443197]\|Peutz-Jeghers syndrome [RCV002147734]	Chr19:1207144 [GRCh38] Chr19:1207143 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.734+17C>T	single nucleotide variant	Peutz-Jeghers syndrome [RCV002096263]	Chr19:1220734 [GRCh38] Chr19:1220733 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.804G>C (p.Gly268=)	single nucleotide variant	Peutz-Jeghers syndrome [RCV002193928]	Chr19:1221282 [GRCh38] Chr19:1221281 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.1230C>A (p.Ala410=)	single nucleotide variant	Peutz-Jeghers syndrome [RCV002152554]	Chr19:1226575 [GRCh38] Chr19:1226574 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.148C>T (p.Leu50=)	single nucleotide variant	Peutz-Jeghers syndrome [RCV002167596]	Chr19:1207061 [GRCh38] Chr19:1207060 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.444C>T (p.Phe148=)	single nucleotide variant	Peutz-Jeghers syndrome [RCV002211734]	Chr19:1219393 [GRCh38] Chr19:1219392 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.1030C>T (p.Leu344=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002382329]\|Peutz-Jeghers syndrome [RCV002093201]	Chr19:1223094 [GRCh38] Chr19:1223093 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.290+10G>A	single nucleotide variant	Peutz-Jeghers syndrome [RCV002093314]	Chr19:1207213 [GRCh38] Chr19:1207212 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.735-15C>T	single nucleotide variant	Peutz-Jeghers syndrome [RCV002216349]	Chr19:1221198 [GRCh38] Chr19:1221197 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.201G>C (p.Leu67=)	single nucleotide variant	Peutz-Jeghers syndrome [RCV002193954]	Chr19:1207114 [GRCh38] Chr19:1207113 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.318G>C (p.Arg106=)	single nucleotide variant	Peutz-Jeghers syndrome [RCV002151954]	Chr19:1218444 [GRCh38] Chr19:1218443 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.920+16G>A	single nucleotide variant	Peutz-Jeghers syndrome [RCV002080632]	Chr19:1222022 [GRCh38] Chr19:1222021 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.1245C>A (p.Arg415=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002391312]\|Peutz-Jeghers syndrome [RCV002133090]	Chr19:1226590 [GRCh38] Chr19:1226589 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.734+19del	deletion	Peutz-Jeghers syndrome [RCV002132448]	Chr19:1220730 [GRCh38] Chr19:1220729 [GRCh37] Chr19:19p13.3	benign
NM_000455.5(STK11):c.863-12G>A	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002256920]\|Peutz-Jeghers syndrome [RCV002109495]	Chr19:1221937 [GRCh38] Chr19:1221936 [GRCh37] Chr19:19p13.3	likely benign\|uncertain significance
NM_000455.5(STK11):c.464+16A>G	single nucleotide variant	Peutz-Jeghers syndrome [RCV002208084]	Chr19:1219429 [GRCh38] Chr19:1219428 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.863-11C>T	single nucleotide variant	Peutz-Jeghers syndrome [RCV002133233]	Chr19:1221938 [GRCh38] Chr19:1221937 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.464+17G>C	single nucleotide variant	Peutz-Jeghers syndrome [RCV002114021]	Chr19:1219430 [GRCh38] Chr19:1219429 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.1086C>T (p.Tyr362=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003585234]\|Peutz-Jeghers syndrome [RCV002208441]	Chr19:1223150 [GRCh38] Chr19:1223149 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.921-5T>C	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003161354]\|Peutz-Jeghers syndrome [RCV002165032]	Chr19:1222980 [GRCh38] Chr19:1222979 [GRCh37] Chr19:19p13.3	likely benign\|uncertain significance
NM_000455.5(STK11):c.464+15C>A	single nucleotide variant	Peutz-Jeghers syndrome [RCV002094212]	Chr19:1219428 [GRCh38] Chr19:1219427 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.651G>C (p.Pro217=)	single nucleotide variant	Peutz-Jeghers syndrome [RCV002212991]	Chr19:1220634 [GRCh38] Chr19:1220633 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.1047G>A (p.Glu349=)	single nucleotide variant	Peutz-Jeghers syndrome [RCV002113594]	Chr19:1223111 [GRCh38] Chr19:1223110 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.561T>C (p.Gly187=)	single nucleotide variant	Peutz-Jeghers syndrome [RCV002096848]	Chr19:1220469 [GRCh38] Chr19:1220468 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.291-20C>T	single nucleotide variant	Peutz-Jeghers syndrome [RCV002132817]	Chr19:1218397 [GRCh38] Chr19:1218396 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.552C>G (p.Leu184=)	single nucleotide variant	Peutz-Jeghers syndrome [RCV002079727]	Chr19:1220460 [GRCh38] Chr19:1220459 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.1272C>T (p.Ile424=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002443198]\|Peutz-Jeghers syndrome [RCV002152574]	Chr19:1226617 [GRCh38] Chr19:1226616 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.290+18G>T	single nucleotide variant	Peutz-Jeghers syndrome [RCV002197172]	Chr19:1207221 [GRCh38] Chr19:1207220 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.57G>A (p.Ser19=)	single nucleotide variant	Peutz-Jeghers syndrome [RCV002121283]	Chr19:1206970 [GRCh38] Chr19:1206969 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.294A>G (p.Glu98=)	single nucleotide variant	Peutz-Jeghers syndrome [RCV002099588]	Chr19:1218420 [GRCh38] Chr19:1218419 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.342G>A (p.Val114=)	single nucleotide variant	Peutz-Jeghers syndrome [RCV002157706]	Chr19:1218468 [GRCh38] Chr19:1218467 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.375-16G>A	single nucleotide variant	Peutz-Jeghers syndrome [RCV002179319]	Chr19:1219308 [GRCh38] Chr19:1219307 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.920+15G>A	single nucleotide variant	Peutz-Jeghers syndrome [RCV002154886]	Chr19:1222021 [GRCh38] Chr19:1222020 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.72G>A (p.Thr24=)	single nucleotide variant	Peutz-Jeghers syndrome [RCV002102512]	Chr19:1206985 [GRCh38] Chr19:1206984 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.374+19_374+24del	deletion	Peutz-Jeghers syndrome [RCV002102913]	Chr19:1218518..1218523 [GRCh38] Chr19:1218517..1218522 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.1281G>T (p.Leu427=)	single nucleotide variant	Peutz-Jeghers syndrome [RCV002204404]	Chr19:1226626 [GRCh38] Chr19:1226625 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.18G>A (p.Pro6=)	single nucleotide variant	Peutz-Jeghers syndrome [RCV002100802]	Chr19:1206931 [GRCh38] Chr19:1206930 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.597+20_597+21dup	duplication	Peutz-Jeghers syndrome [RCV002122230]	Chr19:1220519..1220520 [GRCh38] Chr19:1220518..1220519 [GRCh37] Chr19:19p13.3	benign
NM_000455.5(STK11):c.1272C>A (p.Ile424=)	single nucleotide variant	Peutz-Jeghers syndrome [RCV002157436]	Chr19:1226617 [GRCh38] Chr19:1226616 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.546G>A (p.Leu182=)	single nucleotide variant	Peutz-Jeghers syndrome [RCV002218209]	Chr19:1220454 [GRCh38] Chr19:1220453 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.290+19G>T	single nucleotide variant	Peutz-Jeghers syndrome [RCV002176906]	Chr19:1207222 [GRCh38] Chr19:1207221 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.921-19T>C	single nucleotide variant	Peutz-Jeghers syndrome [RCV002199488]	Chr19:1222966 [GRCh38] Chr19:1222965 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.598-13_598-9del	deletion	Peutz-Jeghers syndrome [RCV002139038]	Chr19:1220564..1220568 [GRCh38] Chr19:1220563..1220567 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.687C>T (p.Asp229=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002361461]\|Peutz-Jeghers syndrome [RCV002216498]	Chr19:1220670 [GRCh38] Chr19:1220669 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.862+6_862+7dup	duplication	Peutz-Jeghers syndrome [RCV002137408]	Chr19:1221344..1221345 [GRCh38] Chr19:1221343..1221344 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.1008T>G (p.Thr336=)	single nucleotide variant	Peutz-Jeghers syndrome [RCV002100515]	Chr19:1223072 [GRCh38] Chr19:1223071 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.290+7A>T	single nucleotide variant	Peutz-Jeghers syndrome [RCV002177923]	Chr19:1207210 [GRCh38] Chr19:1207209 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.249G>T (p.Lys83Asn)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001015760]	Chr19:1207162 [GRCh38] Chr19:1207161 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.568C>T (p.Leu190Phe)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001181440]	Chr19:1220476 [GRCh38] Chr19:1220475 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1228G>A (p.Ala410Thr)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001181689]\|Peutz-Jeghers syndrome [RCV001360003]\|not provided [RCV002259382]	Chr19:1226573 [GRCh38] Chr19:1226572 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1099A>G (p.Thr367Ala)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001017286]\|Peutz-Jeghers syndrome [RCV001860859]	Chr19:1223163 [GRCh38] Chr19:1223162 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.833G>A (p.Cys278Tyr)	single nucleotide variant	Peutz-Jeghers syndrome [RCV001060046]	Chr19:1221311 [GRCh38] Chr19:1221310 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.550C>A (p.Leu184Ile)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001024205]\|Peutz-Jeghers syndrome [RCV001809950]	Chr19:1220458 [GRCh38] Chr19:1220457 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.464+3_464+468del	deletion	Peutz-Jeghers syndrome [RCV001202362]	Chr19:1219412..1219877 [GRCh38] Chr19:1219411..1219876 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.763T>G (p.Phe255Val)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001026659]	Chr19:1221241 [GRCh38] Chr19:1221240 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.770G>A (p.Gly257Glu)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001026744]	Chr19:1221248 [GRCh38] Chr19:1221247 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.860A>G (p.Lys287Arg)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002445336]\|Peutz-Jeghers syndrome [RCV001064819]	Chr19:1221338 [GRCh38] Chr19:1221337 [GRCh37] Chr19:19p13.3	likely benign\|uncertain significance
NM_000455.5(STK11):c.265C>T (p.Pro89Ser)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001016141]\|Peutz-Jeghers syndrome [RCV001343233]	Chr19:1207178 [GRCh38] Chr19:1207177 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.375-7G>T	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001525230]	Chr19:1219317 [GRCh38] Chr19:1219316 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.649C>T (p.Pro217Ser)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV001525246]	Chr19:1220632 [GRCh38] Chr19:1220631 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.352T>C (p.Tyr118His)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002458684]\|Peutz-Jeghers syndrome [RCV001894927]	Chr19:1218478 [GRCh38] Chr19:1218477 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1169T>C (p.Val390Ala)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003303525]\|Peutz-Jeghers syndrome [RCV001968844]	Chr19:1226514 [GRCh38] Chr19:1226513 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.881C>G (p.Pro294Arg)	single nucleotide variant	Peutz-Jeghers syndrome [RCV001871062]	Chr19:1221967 [GRCh38] Chr19:1221966 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1267A>C (p.Lys423Gln)	single nucleotide variant	Peutz-Jeghers syndrome [RCV001870845]	Chr19:1226612 [GRCh38] Chr19:1226611 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.795G>C (p.Glu265Asp)	single nucleotide variant	Peutz-Jeghers syndrome [RCV002039055]	Chr19:1221273 [GRCh38] Chr19:1221272 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.964A>G (p.Ile322Val)	single nucleotide variant	Peutz-Jeghers syndrome [RCV002019661]	Chr19:1223028 [GRCh38] Chr19:1223027 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.613G>T (p.Ala205Ser)	single nucleotide variant	Peutz-Jeghers syndrome [RCV001900807]	Chr19:1220596 [GRCh38] Chr19:1220595 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.429_441del (p.Pro144fs)	deletion	Peutz-Jeghers syndrome [RCV001993197]	Chr19:1219373..1219385 [GRCh38] Chr19:1219372..1219384 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.863-16G>T	single nucleotide variant	Peutz-Jeghers syndrome [RCV002205903]	Chr19:1221933 [GRCh38] Chr19:1221932 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.920+18_920+26del	deletion	Peutz-Jeghers syndrome [RCV002207357]	Chr19:1222019..1222027 [GRCh38] Chr19:1222018..1222026 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.374+13G>C	single nucleotide variant	Peutz-Jeghers syndrome [RCV002209568]	Chr19:1218513 [GRCh38] Chr19:1218512 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.744C>T (p.Ile248=)	single nucleotide variant	Peutz-Jeghers syndrome [RCV002142291]	Chr19:1221222 [GRCh38] Chr19:1221221 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.598-9C>T	single nucleotide variant	Peutz-Jeghers syndrome [RCV002164550]	Chr19:1220572 [GRCh38] Chr19:1220571 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.464+9G>C	single nucleotide variant	Peutz-Jeghers syndrome [RCV002138736]	Chr19:1219422 [GRCh38] Chr19:1219421 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.290+19G>A	single nucleotide variant	Peutz-Jeghers syndrome [RCV002137182]	Chr19:1207222 [GRCh38] Chr19:1207221 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.597+18G>C	single nucleotide variant	Peutz-Jeghers syndrome [RCV002156058]	Chr19:1220523 [GRCh38] Chr19:1220522 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.921-20C>G	single nucleotide variant	Peutz-Jeghers syndrome [RCV002175530]	Chr19:1222965 [GRCh38] Chr19:1222964 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.1230C>G (p.Ala410=)	single nucleotide variant	Peutz-Jeghers syndrome [RCV002101983]	Chr19:1226575 [GRCh38] Chr19:1226574 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.734+11del	deletion	Peutz-Jeghers syndrome [RCV002119665]	Chr19:1220725 [GRCh38] Chr19:1220724 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.464+19G>C	single nucleotide variant	Peutz-Jeghers syndrome [RCV002098302]	Chr19:1219432 [GRCh38] Chr19:1219431 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.735-12C>G	single nucleotide variant	Peutz-Jeghers syndrome [RCV002140882]	Chr19:1221201 [GRCh38] Chr19:1221200 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.291-5C>T	single nucleotide variant	Peutz-Jeghers syndrome [RCV002180991]	Chr19:1218412 [GRCh38] Chr19:1218411 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.375-18G>A	single nucleotide variant	Peutz-Jeghers syndrome [RCV002103865]	Chr19:1219306 [GRCh38] Chr19:1219305 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.375-14C>T	single nucleotide variant	Peutz-Jeghers syndrome [RCV002120971]	Chr19:1219310 [GRCh38] Chr19:1219309 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.291-17T>C	single nucleotide variant	Peutz-Jeghers syndrome [RCV002138967]	Chr19:1218400 [GRCh38] Chr19:1218399 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.813C>T (p.Ser271=)	single nucleotide variant	Peutz-Jeghers syndrome [RCV002139128]	Chr19:1221291 [GRCh38] Chr19:1221290 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.522C>T (p.His174=)	single nucleotide variant	Peutz-Jeghers syndrome [RCV002119843]	Chr19:1220430 [GRCh38] Chr19:1220429 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.192G>A (p.Lys64=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003161618]\|Peutz-Jeghers syndrome [RCV002137950]	Chr19:1207105 [GRCh38] Chr19:1207104 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.464+16A>T	single nucleotide variant	Peutz-Jeghers syndrome [RCV002098817]	Chr19:1219429 [GRCh38] Chr19:1219428 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.862+18C>T	single nucleotide variant	Peutz-Jeghers syndrome [RCV002138303]	Chr19:1221358 [GRCh38] Chr19:1221357 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.464+18G>C	single nucleotide variant	Peutz-Jeghers syndrome [RCV002100949]	Chr19:1219431 [GRCh38] Chr19:1219430 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.933G>A (p.Lys311=)	single nucleotide variant	Peutz-Jeghers syndrome [RCV002178633]	Chr19:1222997 [GRCh38] Chr19:1222996 [GRCh37] Chr19:19p13.3	likely benign
NC_000019.9:g.(?_1219313)_(1220726_?)del	deletion	Peutz-Jeghers syndrome [RCV003111260]	Chr19:1219313..1220726 [GRCh37] Chr19:19p13.3	pathogenic
NC_000019.9:g.(?_589946)_(5696788_?)dup	duplication	not provided [RCV003113597]	Chr19:589946..5696788 [GRCh37] Chr19:19p13.3	uncertain significance
NC_000019.9:g.(?_1206913)_(1650247_?)del	deletion	Cerebral creatine deficiency syndrome [RCV003119440]	Chr19:1206913..1650247 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.344A>G (p.Asp115Gly)	single nucleotide variant	Peutz-Jeghers syndrome [RCV003118989]	Chr19:1218470 [GRCh38] Chr19:1218469 [GRCh37] Chr19:19p13.3	uncertain significance
NC_000019.9:g.(?_589946)_(4818389_?)dup	duplication	not provided [RCV003105391]	Chr19:589946..4818389 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.332del (p.Ile111fs)	deletion	Peutz-Jeghers syndrome [RCV003128554]	Chr19:1218458 [GRCh38] Chr19:1218457 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.1132A>T (p.Ser378Cys)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002257203]	Chr19:1226477 [GRCh38] Chr19:1226476 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.439C>A (p.Arg147Ser)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002257206]	Chr19:1219388 [GRCh38] Chr19:1219387 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.930G>C (p.Arg310=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002255911]\|Peutz-Jeghers syndrome [RCV003094223]	Chr19:1222994 [GRCh38] Chr19:1222993 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.944del (p.Pro315fs)	deletion	Peutz-Jeghers syndrome [RCV002243552]	Chr19:1223007 [GRCh38] Chr19:1223006 [GRCh37] Chr19:19p13.3	likely pathogenic
NM_000455.5(STK11):c.734+44G>A	single nucleotide variant	not specified [RCV002269106]	Chr19:1220761 [GRCh38] Chr19:1220760 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.779del (p.Ile260fs)	deletion	Familial adenomatous polyposis 1 [RCV002267182]	Chr19:1221257 [GRCh38] Chr19:1221256 [GRCh37] Chr19:19p13.3	likely pathogenic
NM_000455.5(STK11):c.337C>T (p.Leu113=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002451814]\|Peutz-Jeghers syndrome [RCV003099438]	Chr19:1218463 [GRCh38] Chr19:1218462 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.597+31G>A	single nucleotide variant	not specified [RCV002269103]	Chr19:1220536 [GRCh38] Chr19:1220535 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.598-36C>T	single nucleotide variant	not specified [RCV002269105]	Chr19:1220545 [GRCh38] Chr19:1220544 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.464+32C>G	single nucleotide variant	not specified [RCV002269101]	Chr19:1219445 [GRCh38] Chr19:1219444 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.799A>C (p.Ile267Leu)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002419108]	Chr19:1221277 [GRCh38] Chr19:1221276 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.73T>C (p.Phe25Leu)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002384882]	Chr19:1206986 [GRCh38] Chr19:1206985 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.285G>C (p.Val95=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002435471]	Chr19:1207198 [GRCh38] Chr19:1207197 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.797A>C (p.Asn266Thr)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002419029]	Chr19:1221275 [GRCh38] Chr19:1221274 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.597+17G>C	single nucleotide variant	not provided [RCV002276408]	Chr19:1220522 [GRCh38] Chr19:1220521 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.290+21T>G	single nucleotide variant	not specified [RCV002269088]	Chr19:1207224 [GRCh38] Chr19:1207223 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.1108+521C>T	single nucleotide variant	not provided [RCV002263129]	Chr19:1223693 [GRCh38] Chr19:1223692 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.1108+40G>C	single nucleotide variant	not specified [RCV002269108]	Chr19:1223212 [GRCh38] Chr19:1223211 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.536C>G (p.Pro179Arg)	single nucleotide variant	Peutz-Jeghers syndrome [RCV003236430]	Chr19:1220444 [GRCh38] Chr19:1220443 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.290+38C>T	single nucleotide variant	not specified [RCV002269092]	Chr19:1207241 [GRCh38] Chr19:1207240 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.1109-23del	deletion	not specified [RCV002269109]	Chr19:1226430 [GRCh38] Chr19:1226429 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.597+21G>T	single nucleotide variant	not specified [RCV002269102]	Chr19:1220526 [GRCh38] Chr19:1220525 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.876C>G (p.Tyr292Ter)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002373063]\|Peutz-Jeghers syndrome [RCV003101532]\|not provided [RCV002269107]	Chr19:1221962 [GRCh38] Chr19:1221961 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.326dup (p.Asn109fs)	duplication	Peutz-Jeghers syndrome [RCV002294600]	Chr19:1218447..1218448 [GRCh38] Chr19:1218446..1218447 [GRCh37] Chr19:19p13.3	likely pathogenic
NM_000455.5(STK11):c.1108+531G>C	single nucleotide variant	not provided [RCV002263130]	Chr19:1223703 [GRCh38] Chr19:1223702 [GRCh37] Chr19:19p13.3	benign\|likely benign
NM_000455.5(STK11):c.375G>T (p.Met125Ile)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002349366]	Chr19:1219324 [GRCh38] Chr19:1219323 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1228G>T (p.Ala410Ser)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003164431]\|Peutz-Jeghers syndrome [RCV002288277]	Chr19:1226573 [GRCh38] Chr19:1226572 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1A>G (p.Met1Val)	single nucleotide variant	not provided [RCV002287099]	Chr19:1206914 [GRCh38] Chr19:1206913 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.256del (p.Arg86fs)	deletion	Hereditary cancer-predisposing syndrome [RCV002452753]	Chr19:1207169 [GRCh38] Chr19:1207168 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.62G>T (p.Gly21Val)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002368786]	Chr19:1206975 [GRCh38] Chr19:1206974 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.111G>C (p.Gln37His)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002438035]\|Peutz-Jeghers syndrome [RCV003775412]	Chr19:1207024 [GRCh38] Chr19:1207023 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.290+1197C>T	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002438067]	Chr19:1208400 [GRCh38] Chr19:1208399 [GRCh37] Chr19:19p13.3	benign
NM_000455.5(STK11):c.290+4del	deletion	Hereditary cancer-predisposing syndrome [RCV002438069]	Chr19:1207206 [GRCh38] Chr19:1207205 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.965del (p.Ile322fs)	deletion	Hereditary cancer-predisposing syndrome [RCV002385391]	Chr19:1223029 [GRCh38] Chr19:1223028 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.979G>T (p.Asp327Tyr)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002387221]	Chr19:1223043 [GRCh38] Chr19:1223042 [GRCh37] Chr19:19p13.3	uncertain significance
NC_000019.9:g.(?_1205797)_(1223172_1226452)del	deletion	Peutz-Jeghers syndrome [RCV002282827]	Chr19:1205797..1223172 [GRCh37] Chr19:19p13.3	likely pathogenic
NM_000455.5(STK11):c.263T>C (p.Ile88Thr)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002452976]	Chr19:1207176 [GRCh38] Chr19:1207175 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.677del (p.Asn226fs)	deletion	Hereditary cancer-predisposing syndrome [RCV002369353]	Chr19:1220659 [GRCh38] Chr19:1220658 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.626C>T (p.Thr209Ile)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002368653]\|Peutz-Jeghers syndrome [RCV003617981]	Chr19:1220609 [GRCh38] Chr19:1220608 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.267del (p.Asn90fs)	deletion	Hereditary cancer-predisposing syndrome [RCV002437319]	Chr19:1207177 [GRCh38] Chr19:1207176 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.811A>T (p.Ser271Cys)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002421274]	Chr19:1221289 [GRCh38] Chr19:1221288 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1257del (p.Ala420fs)	deletion	Hereditary cancer-predisposing syndrome [RCV002421302]	Chr19:1226601 [GRCh38] Chr19:1226600 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.816C>A (p.Tyr272Ter)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002421462]	Chr19:1221294 [GRCh38] Chr19:1221293 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.1188G>A (p.Glu396=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002351242]\|Peutz-Jeghers syndrome [RCV003775996]	Chr19:1226533 [GRCh38] Chr19:1226532 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.33G>A (p.Met11Ile)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002452043]\|Peutz-Jeghers syndrome [RCV003102364]	Chr19:1206946 [GRCh38] Chr19:1206945 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1070A>C (p.Glu357Ala)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002421515]\|Peutz-Jeghers syndrome [RCV003618018]	Chr19:1223134 [GRCh38] Chr19:1223133 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.553A>C (p.Thr185Pro)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002351869]	Chr19:1220461 [GRCh38] Chr19:1220460 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.28G>A (p.Gly10Ser)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002438054]	Chr19:1206941 [GRCh38] Chr19:1206940 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.628T>G (p.Cys210Gly)	single nucleotide variant	Peutz-Jeghers syndrome [RCV002297037]	Chr19:1220611 [GRCh38] Chr19:1220610 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1123G>A (p.Glu375Lys)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003300753]	Chr19:1226468 [GRCh38] Chr19:1226467 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.438G>A (p.Lys146=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003300754]	Chr19:1219387 [GRCh38] Chr19:1219386 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.119G>T (p.Arg40Leu)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002346897]	Chr19:1207032 [GRCh38] Chr19:1207031 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.11T>G (p.Val4Gly)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002347181]	Chr19:1206924 [GRCh38] Chr19:1206923 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.464+38_464+39insTGGGGGC	microsatellite	not specified [RCV002466210]	Chr19:1219445..1219446 [GRCh38] Chr19:1219444..1219445 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.464+34G>T	single nucleotide variant	not specified [RCV002466211]	Chr19:1219447 [GRCh38] Chr19:1219446 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.1243C>A (p.Arg415Ser)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003585279]\|Peutz-Jeghers syndrome [RCV002573582]\|not specified [RCV002466212]	Chr19:1226588 [GRCh38] Chr19:1226587 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.794A>G (p.Glu265Gly)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002416853]	Chr19:1221272 [GRCh38] Chr19:1221271 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.49C>T (p.Leu17=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002343016]	Chr19:1206962 [GRCh38] Chr19:1206961 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.796A>C (p.Asn266His)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002416914]	Chr19:1221274 [GRCh38] Chr19:1221273 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1176G>T (p.Met392Ile)	single nucleotide variant	not provided [RCV002464861]	Chr19:1226521 [GRCh38] Chr19:1226520 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1080C>G (p.Ile360Met)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002417649]	Chr19:1223144 [GRCh38] Chr19:1223143 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.632G>C (p.Arg211Pro)	single nucleotide variant	Peutz-Jeghers syndrome [RCV002303004]	Chr19:1220615 [GRCh38] Chr19:1220614 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.211A>G (p.Thr71Ala)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002417591]	Chr19:1207124 [GRCh38] Chr19:1207123 [GRCh37] Chr19:19p13.3	uncertain significance
NC_000019.9:g.(?_1206913)_(3771740_?)dup	duplication	not provided [RCV003154903]	Chr19:1206913..3771740 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1139A>C (p.Asn380Thr)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002321000]	Chr19:1226484 [GRCh38] Chr19:1226483 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.213G>T (p.Thr71=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002430527]	Chr19:1207126 [GRCh38] Chr19:1207125 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.139G>A (p.Gly47Ser)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002389213]\|Peutz-Jeghers syndrome [RCV003095090]	Chr19:1207052 [GRCh38] Chr19:1207051 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.933G>T (p.Lys311Asn)	single nucleotide variant	Peutz-Jeghers syndrome [RCV002298271]	Chr19:1222997 [GRCh38] Chr19:1222996 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1072G>T (p.Asp358Tyr)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002423822]	Chr19:1223136 [GRCh38] Chr19:1223135 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.663_675del (p.Pro222fs)	deletion	Hereditary cancer-predisposing syndrome [RCV002375910]	Chr19:1220643..1220655 [GRCh38] Chr19:1220642..1220654 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.885del (p.Lys296fs)	deletion	Hereditary cancer-predisposing syndrome [RCV002375949]	Chr19:1221970 [GRCh38] Chr19:1221969 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.78C>A (p.Ile26=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002416629]\|Peutz-Jeghers syndrome [RCV003103451]	Chr19:1206991 [GRCh38] Chr19:1206990 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.264C>G (p.Ile88Met)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002428682]\|Peutz-Jeghers syndrome [RCV003102070]	Chr19:1207177 [GRCh38] Chr19:1207176 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1133G>A (p.Ser378Asn)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002445507]	Chr19:1226478 [GRCh38] Chr19:1226477 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.735-4G>T	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002380262]	Chr19:1221209 [GRCh38] Chr19:1221208 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.433G>A (p.Glu145Lys)	single nucleotide variant	Peutz-Jeghers syndrome [RCV002305156]	Chr19:1219382 [GRCh38] Chr19:1219381 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1138A>G (p.Asn380Asp)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002326476]	Chr19:1226483 [GRCh38] Chr19:1226482 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.156_157dup (p.Asp53fs)	duplication	Hereditary cancer-predisposing syndrome [RCV002405390]	Chr19:1207065..1207066 [GRCh38] Chr19:1207064..1207065 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.1184_1185del (p.Thr395fs)	microsatellite	Hereditary cancer-predisposing syndrome [RCV002337662]	Chr19:1226527..1226528 [GRCh38] Chr19:1226526..1226527 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1067T>C (p.Ile356Thr)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002408250]\|Melanoma, cutaneous malignant, susceptibility to, 1 [RCV003464536]	Chr19:1223131 [GRCh38] Chr19:1223130 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.982A>C (p.Thr328Pro)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002376856]	Chr19:1223046 [GRCh38] Chr19:1223045 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1006A>G (p.Thr336Ala)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002417271]	Chr19:1223070 [GRCh38] Chr19:1223069 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1262G>T (p.Ser421Ile)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002447553]	Chr19:1226607 [GRCh38] Chr19:1226606 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1269G>C (p.Lys423Asn)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002373835]	Chr19:1226614 [GRCh38] Chr19:1226613 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.597+1G>A	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002356090]	Chr19:1220506 [GRCh38] Chr19:1220505 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.226G>A (p.Ala76Thr)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002443873]	Chr19:1207139 [GRCh38] Chr19:1207138 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.268A>G (p.Asn90Asp)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002428937]	Chr19:1207181 [GRCh38] Chr19:1207180 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.244A>G (p.Lys82Glu)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002450496]	Chr19:1207157 [GRCh38] Chr19:1207156 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.465G>T (p.Gly155=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002335107]	Chr19:1220373 [GRCh38] Chr19:1220372 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.992G>C (p.Arg331Pro)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002382859]	Chr19:1223056 [GRCh38] Chr19:1223055 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.156G>C (p.Gly52=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002405641]	Chr19:1207069 [GRCh38] Chr19:1207068 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.465-4G>T	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002330463]	Chr19:1220369 [GRCh38] Chr19:1220368 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.465-5C>G	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002330465]\|Peutz-Jeghers syndrome [RCV003617970]	Chr19:1220368 [GRCh38] Chr19:1220367 [GRCh37] Chr19:19p13.3	likely benign\|uncertain significance
NM_000455.5(STK11):c.635C>A (p.Thr212Asn)	single nucleotide variant	Peutz-Jeghers syndrome [RCV002300376]	Chr19:1220618 [GRCh38] Chr19:1220617 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.824del (p.Pro275fs)	deletion	Hereditary cancer-predisposing syndrome [RCV002430149]	Chr19:1221300 [GRCh38] Chr19:1221299 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.479_489del (p.Leu160fs)	deletion	Hereditary cancer-predisposing syndrome [RCV002330711]	Chr19:1220385..1220395 [GRCh38] Chr19:1220384..1220394 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.862+5G>A	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002371154]	Chr19:1221345 [GRCh38] Chr19:1221344 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.645del (p.Ser216fs)	deletion	Hereditary cancer-predisposing syndrome [RCV002361887]	Chr19:1220628 [GRCh38] Chr19:1220627 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.836_837delinsTA (p.Gly279Val)	indel	Hereditary cancer-predisposing syndrome [RCV002434746]	Chr19:1221314..1221315 [GRCh38] Chr19:1221313..1221314 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.920+2_920+31del	deletion	Hereditary cancer-predisposing syndrome [RCV002371245]	Chr19:1222007..1222036 [GRCh38] Chr19:1222006..1222035 [GRCh37] Chr19:19p13.3	likely pathogenic
NM_000455.5(STK11):c.921-5T>G	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002371266]	Chr19:1222980 [GRCh38] Chr19:1222979 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1000A>G (p.Ser334Gly)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002363955]	Chr19:1223064 [GRCh38] Chr19:1223063 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.729C>T (p.Val243=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002382726]\|Peutz-Jeghers syndrome [RCV003098531]	Chr19:1220712 [GRCh38] Chr19:1220711 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.650C>G (p.Pro217Arg)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002364166]	Chr19:1220633 [GRCh38] Chr19:1220632 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.901del (p.Arg301fs)	deletion	Hereditary cancer-predisposing syndrome [RCV002376421]	Chr19:1221986 [GRCh38] Chr19:1221985 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.477G>A (p.Gln159=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002330685]	Chr19:1220385 [GRCh38] Chr19:1220384 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.905A>T (p.Gln302Leu)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003585245]\|Peutz-Jeghers syndrome [RCV002295969]	Chr19:1221991 [GRCh38] Chr19:1221990 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.780C>G (p.Ile260Met)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002409939]	Chr19:1221258 [GRCh38] Chr19:1221257 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.892_903dup (p.Arg301_Gln302insPheSerIleArg)	duplication	Hereditary cancer-predisposing syndrome [RCV002376137]	Chr19:1221975..1221976 [GRCh38] Chr19:1221974..1221975 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.143A>C (p.Lys48Thr)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002394328]	Chr19:1207056 [GRCh38] Chr19:1207055 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.223A>C (p.Arg75=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002428335]	Chr19:1207136 [GRCh38] Chr19:1207135 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.160C>G (p.Leu54Val)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002394812]\|Peutz-Jeghers syndrome [RCV003774408]	Chr19:1207073 [GRCh38] Chr19:1207072 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.360A>G (p.Glu120=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002455302]	Chr19:1218486 [GRCh38] Chr19:1218485 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.712A>G (p.Ile238Val)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002378336]\|Melanoma, cutaneous malignant, susceptibility to, 1 [RCV003464483]	Chr19:1220695 [GRCh38] Chr19:1220694 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1285G>A (p.Ala429Thr)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002383171]\|Peutz-Jeghers syndrome [RCV003094919]	Chr19:1226630 [GRCh38] Chr19:1226629 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.136A>C (p.Ile46Leu)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002383659]	Chr19:1207049 [GRCh38] Chr19:1207048 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1130C>G (p.Ala377Gly)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002320808]\|Peutz-Jeghers syndrome [RCV003507408]	Chr19:1226475 [GRCh38] Chr19:1226474 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.831C>G (p.Asp277Glu)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002430415]	Chr19:1221309 [GRCh38] Chr19:1221308 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1054G>A (p.Asp352Asn)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002406174]	Chr19:1223118 [GRCh38] Chr19:1223117 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1004_1019dup (p.Leu341fs)	duplication	Hereditary cancer-predisposing syndrome [RCV002401136]	Chr19:1223066..1223067 [GRCh38] Chr19:1223065..1223066 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.1204A>C (p.Thr402Pro)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002351999]	Chr19:1226549 [GRCh38] Chr19:1226548 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.107dup (p.Tyr36Ter)	duplication	Hereditary cancer-predisposing syndrome [RCV002424339]	Chr19:1207019..1207020 [GRCh38] Chr19:1207018..1207019 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.1059C>T (p.Leu353=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002401612]	Chr19:1223123 [GRCh38] Chr19:1223122 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.903G>A (p.Arg301=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002378467]	Chr19:1221989 [GRCh38] Chr19:1221988 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.734_734+2dup	duplication	Hereditary cancer-predisposing syndrome [RCV002380209]	Chr19:1220716..1220717 [GRCh38] Chr19:1220715..1220716 [GRCh37] Chr19:19p13.3	likely pathogenic
NM_000455.5(STK11):c.1078A>T (p.Ile360Phe)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002422162]\|Melanoma, cutaneous malignant, susceptibility to, 1 [RCV003464545]	Chr19:1223142 [GRCh38] Chr19:1223141 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.874T>G (p.Tyr292Asp)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002373554]	Chr19:1221960 [GRCh38] Chr19:1221959 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.279C>A (p.Ala93=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002441500]	Chr19:1207192 [GRCh38] Chr19:1207191 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.878A>C (p.Glu293Ala)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002373662]	Chr19:1221964 [GRCh38] Chr19:1221963 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.589G>A (p.Val197Met)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002355668]	Chr19:1220497 [GRCh38] Chr19:1220496 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.246del (p.Lys83fs)	deletion	Hereditary cancer-predisposing syndrome [RCV002450596]	Chr19:1207159 [GRCh38] Chr19:1207158 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.427G>C (p.Val143Leu)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002330114]\|Peutz-Jeghers syndrome [RCV003617965]	Chr19:1219376 [GRCh38] Chr19:1219375 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.462dup (p.Gly155fs)	duplication	Hereditary cancer-predisposing syndrome [RCV002330392]	Chr19:1219410..1219411 [GRCh38] Chr19:1219409..1219410 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.863-4T>G	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002371182]	Chr19:1221945 [GRCh38] Chr19:1221944 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.914A>C (p.Gln305Pro)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002378781]	Chr19:1222000 [GRCh38] Chr19:1221999 [GRCh37] Chr19:19p13.3	likely pathogenic
NM_000455.5(STK11):c.1223G>A (p.Gly408Asp)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002361927]	Chr19:1226568 [GRCh38] Chr19:1226567 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.850G>C (p.Asp284His)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002447744]\|Peutz-Jeghers syndrome [RCV003617991]	Chr19:1221328 [GRCh38] Chr19:1221327 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.539G>A (p.Gly180Glu)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002347233]	Chr19:1220447 [GRCh38] Chr19:1220446 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.896C>A (p.Ser299Tyr)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002376239]	Chr19:1221982 [GRCh38] Chr19:1221981 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.899T>G (p.Ile300Ser)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002376316]	Chr19:1221985 [GRCh38] Chr19:1221984 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.444C>G (p.Phe148Leu)	single nucleotide variant	Peutz-Jeghers syndrome [RCV002296363]	Chr19:1219393 [GRCh38] Chr19:1219392 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.450G>T (p.Val150=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002339903]	Chr19:1219399 [GRCh38] Chr19:1219398 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.208G>C (p.Glu70Gln)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002424032]	Chr19:1207121 [GRCh38] Chr19:1207120 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.461A>G (p.His154Arg)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002342501]	Chr19:1219410 [GRCh38] Chr19:1219409 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.965T>G (p.Ile322Ser)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002376518]	Chr19:1223029 [GRCh38] Chr19:1223028 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.827del (p.Gly276fs)	deletion	Hereditary cancer-predisposing syndrome [RCV002412566]	Chr19:1221303 [GRCh38] Chr19:1221302 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.420G>C (p.Leu140=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002327950]	Chr19:1219369 [GRCh38] Chr19:1219368 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.453C>G (p.Cys151Trp)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002330314]	Chr19:1219402 [GRCh38] Chr19:1219401 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.464+1G>C	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002342608]	Chr19:1219414 [GRCh38] Chr19:1219413 [GRCh37] Chr19:19p13.3	likely pathogenic
NM_000455.5(STK11):c.1242C>T (p.Ala414=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002380409]\|Peutz-Jeghers syndrome [RCV003617984]	Chr19:1226587 [GRCh38] Chr19:1226586 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.1280T>C (p.Leu427Pro)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002376665]\|Peutz-Jeghers syndrome [RCV003094860]	Chr19:1226625 [GRCh38] Chr19:1226624 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1199T>G (p.Leu400Arg)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002344643]\|Peutz-Jeghers syndrome [RCV003096692]	Chr19:1226544 [GRCh38] Chr19:1226543 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.490C>T (p.Leu164=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002340688]\|Peutz-Jeghers syndrome [RCV003096522]\|not specified [RCV003235706]	Chr19:1220398 [GRCh38] Chr19:1220397 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.478C>T (p.Leu160=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002337805]	Chr19:1220386 [GRCh38] Chr19:1220385 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.475C>G (p.Gln159Glu)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002337660]	Chr19:1220383 [GRCh38] Chr19:1220382 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.475C>T (p.Gln159Ter)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002337663]\|Peutz-Jeghers syndrome [RCV003507415]	Chr19:1220383 [GRCh38] Chr19:1220382 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.465-21_465del	deletion	Hereditary cancer-predisposing syndrome [RCV002330459]	Chr19:1220348..1220369 [GRCh38] Chr19:1220347..1220368 [GRCh37] Chr19:19p13.3	likely pathogenic
NM_000455.5(STK11):c.119G>A (p.Arg40His)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002346866]	Chr19:1207032 [GRCh38] Chr19:1207031 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.610T>G (p.Phe204Val)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002360229]	Chr19:1220593 [GRCh38] Chr19:1220592 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.521A>C (p.His174Pro)	single nucleotide variant	Peutz-Jeghers syndrome [RCV002303239]	Chr19:1220429 [GRCh38] Chr19:1220428 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.880C>T (p.Pro294Ser)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002373730]\|Melanoma, cutaneous malignant, susceptibility to, 1 [RCV003471366]\|Peutz-Jeghers syndrome [RCV003617994]	Chr19:1221966 [GRCh38] Chr19:1221965 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.648C>A (p.Ser216=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002356235]\|Peutz-Jeghers syndrome [RCV003098263]	Chr19:1220631 [GRCh38] Chr19:1220630 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.497A>G (p.Tyr166Cys)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002342887]	Chr19:1220405 [GRCh38] Chr19:1220404 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.311G>C (p.Arg104Thr)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002320481]\|Peutz-Jeghers syndrome [RCV003507406]	Chr19:1218437 [GRCh38] Chr19:1218436 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.651G>T (p.Pro217=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002364230]	Chr19:1220634 [GRCh38] Chr19:1220633 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.465G>A (p.Gly155=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002335104]\|Peutz-Jeghers syndrome [RCV003775943]	Chr19:1220373 [GRCh38] Chr19:1220372 [GRCh37] Chr19:19p13.3	likely benign\|uncertain significance
NM_000455.5(STK11):c.106T>C (p.Tyr36His)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002413237]	Chr19:1207019 [GRCh38] Chr19:1207018 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.653C>G (p.Ala218Gly)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002364310]	Chr19:1220636 [GRCh38] Chr19:1220635 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.586G>C (p.Gly196Arg)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002353450]	Chr19:1220494 [GRCh38] Chr19:1220493 [GRCh37] Chr19:19p13.3	likely pathogenic
NM_000455.5(STK11):c.1221G>A (p.Glu407=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002361527]	Chr19:1226566 [GRCh38] Chr19:1226565 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.13G>A (p.Asp5Asn)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002389244]\|Peutz-Jeghers syndrome [RCV003095092]	Chr19:1206926 [GRCh38] Chr19:1206925 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.734+20G>T	single nucleotide variant	Peutz-Jeghers syndrome [RCV003014816]	Chr19:1220737 [GRCh38] Chr19:1220736 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.796A>G (p.Asn266Asp)	single nucleotide variant	Peutz-Jeghers syndrome [RCV002617097]	Chr19:1221274 [GRCh38] Chr19:1221273 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.990C>T (p.Asp330=)	single nucleotide variant	Peutz-Jeghers syndrome [RCV002880791]	Chr19:1223054 [GRCh38] Chr19:1223053 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.1109-11C>G	single nucleotide variant	Peutz-Jeghers syndrome [RCV003016107]	Chr19:1226443 [GRCh38] Chr19:1226442 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.183C>T (p.Gly61=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003308225]\|Peutz-Jeghers syndrome [RCV002686016]	Chr19:1207096 [GRCh38] Chr19:1207095 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.1108+16G>C	single nucleotide variant	Peutz-Jeghers syndrome [RCV002690314]	Chr19:1223188 [GRCh38] Chr19:1223187 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.734+15C>T	single nucleotide variant	Peutz-Jeghers syndrome [RCV002975579]	Chr19:1220732 [GRCh38] Chr19:1220731 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.72G>T (p.Thr24=)	single nucleotide variant	Peutz-Jeghers syndrome [RCV002636088]	Chr19:1206985 [GRCh38] Chr19:1206984 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.863-13G>A	single nucleotide variant	Peutz-Jeghers syndrome [RCV002756559]	Chr19:1221936 [GRCh38] Chr19:1221935 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.597+17G>T	single nucleotide variant	Peutz-Jeghers syndrome [RCV002730608]	Chr19:1220522 [GRCh38] Chr19:1220521 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.606C>T (p.His202=)	single nucleotide variant	Peutz-Jeghers syndrome [RCV002815351]	Chr19:1220589 [GRCh38] Chr19:1220588 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.1001G>C (p.Ser334Thr)	single nucleotide variant	Peutz-Jeghers syndrome [RCV002681889]	Chr19:1223065 [GRCh38] Chr19:1223064 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.920+13T>C	single nucleotide variant	Peutz-Jeghers syndrome [RCV002730845]	Chr19:1222019 [GRCh38] Chr19:1222018 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.374+14T>C	single nucleotide variant	Peutz-Jeghers syndrome [RCV002838056]	Chr19:1218514 [GRCh38] Chr19:1218513 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.1186G>A (p.Glu396Lys)	single nucleotide variant	Peutz-Jeghers syndrome [RCV002971515]	Chr19:1226531 [GRCh38] Chr19:1226530 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.920+2T>C	single nucleotide variant	Peutz-Jeghers syndrome [RCV003017386]	Chr19:1222008 [GRCh38] Chr19:1222007 [GRCh37] Chr19:19p13.3	likely pathogenic
NM_000455.5(STK11):c.266C>G (p.Pro89Arg)	single nucleotide variant	Peutz-Jeghers syndrome [RCV002903759]	Chr19:1207179 [GRCh38] Chr19:1207178 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.920+17G>A	single nucleotide variant	Peutz-Jeghers syndrome [RCV002882295]	Chr19:1222023 [GRCh38] Chr19:1222022 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.920+12C>G	single nucleotide variant	Peutz-Jeghers syndrome [RCV002726298]	Chr19:1222018 [GRCh38] Chr19:1222017 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.597+13T>G	single nucleotide variant	Peutz-Jeghers syndrome [RCV003017306]	Chr19:1220518 [GRCh38] Chr19:1220517 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.1106C>A (p.Pro369His)	single nucleotide variant	Peutz-Jeghers syndrome [RCV002886090]	Chr19:1223170 [GRCh38] Chr19:1223169 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.291-5C>G	single nucleotide variant	Peutz-Jeghers syndrome [RCV003003288]	Chr19:1218412 [GRCh38] Chr19:1218411 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.620A>T (p.Asp207Val)	single nucleotide variant	Peutz-Jeghers syndrome [RCV002825140]	Chr19:1220603 [GRCh38] Chr19:1220602 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.482T>C (p.Ile161Thr)	single nucleotide variant	Peutz-Jeghers syndrome [RCV003020574]	Chr19:1220390 [GRCh38] Chr19:1220389 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.158dup (p.Asp53fs)	duplication	Peutz-Jeghers syndrome [RCV002871366]	Chr19:1207070..1207071 [GRCh38] Chr19:1207069..1207070 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.385del (p.Met129fs)	deletion	Peutz-Jeghers syndrome [RCV002844047]	Chr19:1219334 [GRCh38] Chr19:1219333 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.556A>G (p.Thr186Ala)	single nucleotide variant	Peutz-Jeghers syndrome [RCV003036651]	Chr19:1220464 [GRCh38] Chr19:1220463 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.852C>G (p.Asp284Glu)	single nucleotide variant	Peutz-Jeghers syndrome [RCV003078408]	Chr19:1221330 [GRCh38] Chr19:1221329 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.874T>C (p.Tyr292His)	single nucleotide variant	Peutz-Jeghers syndrome [RCV003078142]	Chr19:1221960 [GRCh38] Chr19:1221959 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.598-12_598-11dup	duplication	Peutz-Jeghers syndrome [RCV002948933]	Chr19:1220568..1220569 [GRCh38] Chr19:1220567..1220568 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.834_858del (p.Asp277_Cys278insTer)	deletion	Peutz-Jeghers syndrome [RCV002846738]	Chr19:1221309..1221333 [GRCh38] Chr19:1221308..1221332 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.266C>T (p.Pro89Leu)	single nucleotide variant	Peutz-Jeghers syndrome [RCV003054126]	Chr19:1207179 [GRCh38] Chr19:1207178 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.598-6C>T	single nucleotide variant	Peutz-Jeghers syndrome [RCV002756719]	Chr19:1220575 [GRCh38] Chr19:1220574 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.549G>A (p.Leu183=)	single nucleotide variant	Peutz-Jeghers syndrome [RCV002736471]	Chr19:1220457 [GRCh38] Chr19:1220456 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.1109-14_1109-11dup	duplication	Peutz-Jeghers syndrome [RCV002181408]	Chr19:1226438..1226439 [GRCh38] Chr19:1226437..1226438 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.597+19G>A	single nucleotide variant	Peutz-Jeghers syndrome [RCV002217284]	Chr19:1220524 [GRCh38] Chr19:1220523 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.340G>A (p.Val114Met)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002452158]\|Peutz-Jeghers syndrome [RCV003775620]	Chr19:1218466 [GRCh38] Chr19:1218465 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.289_290+1del	microsatellite	Hereditary cancer-predisposing syndrome [RCV002437919]	Chr19:1207198..1207200 [GRCh38] Chr19:1207197..1207199 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.464+322C>T	single nucleotide variant	Lung adenocarcinoma [RCV003129630]	Chr19:1219735 [GRCh38] Chr19:1219734 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1109-955A>G	single nucleotide variant	Squamous cell carcinoma [RCV003129615]	Chr19:1225499 [GRCh38] Chr19:1225498 [GRCh37] Chr19:19p13.3	benign
NM_000455.5(STK11):c.464+23_464+39del	deletion	Hereditary cancer-predisposing syndrome [RCV002342609]	Chr19:1219430..1219446 [GRCh38] Chr19:1219429..1219445 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.32T>C (p.Met11Thr)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002326216]	Chr19:1206945 [GRCh38] Chr19:1206944 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.792T>G (p.Phe264Leu)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002416790]	Chr19:1221270 [GRCh38] Chr19:1221269 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1034A>G (p.His345Arg)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV002389517]\|Peutz-Jeghers syndrome [RCV003618004]	Chr19:1223098 [GRCh38] Chr19:1223097 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.692_694del (p.Phe231del)	deletion	Melanoma, cutaneous malignant, susceptibility to, 1 [RCV003465912]\|Peutz-Jeghers syndrome [RCV003036077]	Chr19:1220673..1220675 [GRCh38] Chr19:1220672..1220674 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.432_454dup (p.Gln152fs)	duplication	Peutz-Jeghers syndrome [RCV003038678]	Chr19:1219375..1219376 [GRCh38] Chr19:1219374..1219375 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.91T>G (p.Ser31Ala)	single nucleotide variant	Peutz-Jeghers syndrome [RCV002913951]	Chr19:1207004 [GRCh38] Chr19:1207003 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.464+14G>C	single nucleotide variant	Peutz-Jeghers syndrome [RCV003021161]	Chr19:1219427 [GRCh38] Chr19:1219426 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.680G>A (p.Gly227Asp)	single nucleotide variant	Peutz-Jeghers syndrome [RCV002824317]	Chr19:1220663 [GRCh38] Chr19:1220662 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1116C>G (p.Val372=)	single nucleotide variant	Peutz-Jeghers syndrome [RCV002867823]	Chr19:1226461 [GRCh38] Chr19:1226460 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.353A>G (p.Tyr118Cys)	single nucleotide variant	Peutz-Jeghers syndrome [RCV002886242]	Chr19:1218479 [GRCh38] Chr19:1218478 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.494del (p.Glu165fs)	deletion	Peutz-Jeghers syndrome [RCV002999966]	Chr19:1220402 [GRCh38] Chr19:1220401 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.677A>G (p.Asn226Ser)	single nucleotide variant	Peutz-Jeghers syndrome [RCV003039024]	Chr19:1220660 [GRCh38] Chr19:1220659 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.597+20G>T	single nucleotide variant	Peutz-Jeghers syndrome [RCV003005678]	Chr19:1220525 [GRCh38] Chr19:1220524 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.862+17_862+23del	deletion	Peutz-Jeghers syndrome [RCV002766067]	Chr19:1221354..1221360 [GRCh38] Chr19:1221353..1221359 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.582C>T (p.Asp194=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003170882]\|Peutz-Jeghers syndrome [RCV003026008]	Chr19:1220490 [GRCh38] Chr19:1220489 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.689C>G (p.Thr230Ser)	single nucleotide variant	Peutz-Jeghers syndrome [RCV003039893]	Chr19:1220672 [GRCh38] Chr19:1220671 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.148C>G (p.Leu50Val)	single nucleotide variant	Peutz-Jeghers syndrome [RCV002624227]	Chr19:1207061 [GRCh38] Chr19:1207060 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1042del (p.Asp348fs)	deletion	Peutz-Jeghers syndrome [RCV002876712]	Chr19:1223105 [GRCh38] Chr19:1223104 [GRCh37] Chr19:19p13.3	uncertain significance
NC_000019.10:g.1220380_1220381insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGGCTGGCCGGGCAGAGTGGCTCCTCACTTCCCAGACGGGGTGGTTGCCAGACGGAGGGGCTCCTCACTTCTCAGACGGGGCCCGCAGGTACTTCT	insertion	Peutz-Jeghers syndrome [RCV002872579]	Chr19:1220364..1220365 [GRCh38] Chr19:1220363..1220364 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.131_136del (p.Lys44_Leu45del)	deletion	Peutz-Jeghers syndrome [RCV002872223]	Chr19:1207042..1207047 [GRCh38] Chr19:1207041..1207046 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.778A>G (p.Ile260Val)	single nucleotide variant	Peutz-Jeghers syndrome [RCV003025366]	Chr19:1221256 [GRCh38] Chr19:1221255 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1109-16dup	duplication	Peutz-Jeghers syndrome [RCV002828178]	Chr19:1226437..1226438 [GRCh38] Chr19:1226436..1226437 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.51G>T (p.Leu17=)	single nucleotide variant	Peutz-Jeghers syndrome [RCV003058037]	Chr19:1206964 [GRCh38] Chr19:1206963 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.1084T>A (p.Tyr362Asn)	single nucleotide variant	Peutz-Jeghers syndrome [RCV002572644]	Chr19:1223148 [GRCh38] Chr19:1223147 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.356A>G (p.Asn119Ser)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003167554]\|Peutz-Jeghers syndrome [RCV002642668]	Chr19:1218482 [GRCh38] Chr19:1218481 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.758A>G (p.Tyr253Cys)	single nucleotide variant	Peutz-Jeghers syndrome [RCV002828389]	Chr19:1221236 [GRCh38] Chr19:1221235 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.464G>T (p.Gly155Val)	single nucleotide variant	Peutz-Jeghers syndrome [RCV002914994]	Chr19:1219413 [GRCh38] Chr19:1219412 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1033_1108+9dup	duplication	Peutz-Jeghers syndrome [RCV002876047]	Chr19:1223093..1223094 [GRCh38] Chr19:1223092..1223093 [GRCh37] Chr19:19p13.3	likely pathogenic\|uncertain significance
NM_000455.5(STK11):c.1204A>G (p.Thr402Ala)	single nucleotide variant	Peutz-Jeghers syndrome [RCV003043349]	Chr19:1226549 [GRCh38] Chr19:1226548 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1109-11C>T	single nucleotide variant	Peutz-Jeghers syndrome [RCV003042608]	Chr19:1226443 [GRCh38] Chr19:1226442 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.921-1G>A	single nucleotide variant	Peutz-Jeghers syndrome [RCV003041338]	Chr19:1222984 [GRCh38] Chr19:1222983 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.1132A>G (p.Ser378Gly)	single nucleotide variant	Peutz-Jeghers syndrome [RCV002575654]	Chr19:1226477 [GRCh38] Chr19:1226476 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.24G>A (p.Gln8=)	single nucleotide variant	Peutz-Jeghers syndrome [RCV002876279]	Chr19:1206937 [GRCh38] Chr19:1206936 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.989A>G (p.Asp330Gly)	single nucleotide variant	Peutz-Jeghers syndrome [RCV003042911]	Chr19:1223053 [GRCh38] Chr19:1223052 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.920+1G>C	single nucleotide variant	Peutz-Jeghers syndrome [RCV002872251]	Chr19:1222007 [GRCh38] Chr19:1222006 [GRCh37] Chr19:19p13.3	likely pathogenic
NM_000455.5(STK11):c.219C>G (p.Cys73Trp)	single nucleotide variant	Peutz-Jeghers syndrome [RCV003030406]	Chr19:1207132 [GRCh38] Chr19:1207131 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.670A>G (p.Ile224Val)	single nucleotide variant	Peutz-Jeghers syndrome [RCV003029863]	Chr19:1220653 [GRCh38] Chr19:1220652 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.868C>A (p.Leu290Ile)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003585342]\|Peutz-Jeghers syndrome [RCV003047361]	Chr19:1221954 [GRCh38] Chr19:1221953 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.22C>A (p.Gln8Lys)	single nucleotide variant	Peutz-Jeghers syndrome [RCV002833003]	Chr19:1206935 [GRCh38] Chr19:1206934 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1152G>A (p.Arg384=)	single nucleotide variant	Peutz-Jeghers syndrome [RCV003049426]	Chr19:1226497 [GRCh38] Chr19:1226496 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.920+19C>T	single nucleotide variant	Peutz-Jeghers syndrome [RCV003048788]	Chr19:1222025 [GRCh38] Chr19:1222024 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.863-17C>G	single nucleotide variant	Peutz-Jeghers syndrome [RCV002633044]	Chr19:1221932 [GRCh38] Chr19:1221931 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.920+18G>A	single nucleotide variant	Peutz-Jeghers syndrome [RCV003065863]	Chr19:1222024 [GRCh38] Chr19:1222023 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.983C>A (p.Thr328Asn)	single nucleotide variant	Peutz-Jeghers syndrome [RCV003092061]	Chr19:1223047 [GRCh38] Chr19:1223046 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1033C>T (p.His345Tyr)	single nucleotide variant	Peutz-Jeghers syndrome [RCV002988664]	Chr19:1223097 [GRCh38] Chr19:1223096 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1260C>T (p.Ala420=)	single nucleotide variant	Peutz-Jeghers syndrome [RCV002810431]	Chr19:1226605 [GRCh38] Chr19:1226604 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.734+5G>A	single nucleotide variant	Peutz-Jeghers syndrome [RCV003064528]	Chr19:1220722 [GRCh38] Chr19:1220721 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.909C>G (p.Ile303Met)	single nucleotide variant	Peutz-Jeghers syndrome [RCV003064530]	Chr19:1221995 [GRCh38] Chr19:1221994 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.51G>A (p.Leu17=)	single nucleotide variant	Peutz-Jeghers syndrome [RCV002899122]	Chr19:1206964 [GRCh38] Chr19:1206963 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.863-19C>G	single nucleotide variant	Peutz-Jeghers syndrome [RCV003029462]	Chr19:1221930 [GRCh38] Chr19:1221929 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.804G>A (p.Gly268=)	single nucleotide variant	Peutz-Jeghers syndrome [RCV002988521]	Chr19:1221282 [GRCh38] Chr19:1221281 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.372A>G (p.Lys124=)	single nucleotide variant	Peutz-Jeghers syndrome [RCV002630529]	Chr19:1218498 [GRCh38] Chr19:1218497 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.1099_1108+73del	deletion	Peutz-Jeghers syndrome [RCV002899058]	Chr19:1223162..1223244 [GRCh38] Chr19:1223161..1223243 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.375-17T>G	single nucleotide variant	Peutz-Jeghers syndrome [RCV002856143]	Chr19:1219307 [GRCh38] Chr19:1219306 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.920+16G>C	single nucleotide variant	Peutz-Jeghers syndrome [RCV003011464]	Chr19:1222022 [GRCh38] Chr19:1222021 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.735-10C>A	single nucleotide variant	Peutz-Jeghers syndrome [RCV003064529]	Chr19:1221203 [GRCh38] Chr19:1221202 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.1109-19C>T	single nucleotide variant	Peutz-Jeghers syndrome [RCV002627685]	Chr19:1226435 [GRCh38] Chr19:1226434 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.472T>G (p.Cys158Gly)	single nucleotide variant	Peutz-Jeghers syndrome [RCV002810719]	Chr19:1220380 [GRCh38] Chr19:1220379 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1108+9G>A	single nucleotide variant	Peutz-Jeghers syndrome [RCV002898771]	Chr19:1223181 [GRCh38] Chr19:1223180 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.573A>C (p.Lys191Asn)	single nucleotide variant	Peutz-Jeghers syndrome [RCV002938441]	Chr19:1220481 [GRCh38] Chr19:1220480 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.886A>T (p.Lys296Ter)	single nucleotide variant	Peutz-Jeghers syndrome [RCV002966525]	Chr19:1221972 [GRCh38] Chr19:1221971 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.682C>A (p.Leu228Met)	single nucleotide variant	Peutz-Jeghers syndrome [RCV003086475]	Chr19:1220665 [GRCh38] Chr19:1220664 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.856C>T (p.Leu286=)	single nucleotide variant	Peutz-Jeghers syndrome [RCV002806862]	Chr19:1221334 [GRCh38] Chr19:1221333 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.882G>T (p.Pro294=)	single nucleotide variant	Peutz-Jeghers syndrome [RCV002806478]	Chr19:1221968 [GRCh38] Chr19:1221967 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.1011G>C (p.Val337=)	single nucleotide variant	Peutz-Jeghers syndrome [RCV003026970]	Chr19:1223075 [GRCh38] Chr19:1223074 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.859A>G (p.Lys287Glu)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003358027]\|Peutz-Jeghers syndrome [RCV002933916]	Chr19:1221337 [GRCh38] Chr19:1221336 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.374+9T>C	single nucleotide variant	Peutz-Jeghers syndrome [RCV002810251]	Chr19:1218509 [GRCh38] Chr19:1218508 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.921-20C>T	single nucleotide variant	Peutz-Jeghers syndrome [RCV003087585]	Chr19:1222965 [GRCh38] Chr19:1222964 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.1109-16_1109-15delinsTG	indel	Peutz-Jeghers syndrome [RCV003068255]	Chr19:1226438..1226439 [GRCh38] Chr19:1226437..1226438 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.734+12G>C	single nucleotide variant	Peutz-Jeghers syndrome [RCV003067086]	Chr19:1220729 [GRCh38] Chr19:1220728 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.465-20C>A	single nucleotide variant	Peutz-Jeghers syndrome [RCV003092827]	Chr19:1220353 [GRCh38] Chr19:1220352 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.930G>A (p.Arg310=)	single nucleotide variant	Peutz-Jeghers syndrome [RCV003052479]	Chr19:1222994 [GRCh38] Chr19:1222993 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.361G>A (p.Glu121Lys)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003170995]\|Peutz-Jeghers syndrome [RCV003066756]	Chr19:1218487 [GRCh38] Chr19:1218486 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.464+140dup	duplication	Squamous cell carcinoma [RCV003129604]	Chr19:1219552..1219553 [GRCh38] Chr19:1219551..1219552 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.863-15C>T	single nucleotide variant	Peutz-Jeghers syndrome [RCV002721529]	Chr19:1221934 [GRCh38] Chr19:1221933 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.275A>T (p.Glu92Val)	single nucleotide variant	Peutz-Jeghers syndrome [RCV003052554]	Chr19:1207188 [GRCh38] Chr19:1207187 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.597+14A>T	single nucleotide variant	Peutz-Jeghers syndrome [RCV003072134]	Chr19:1220519 [GRCh38] Chr19:1220518 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.1148G>C (p.Arg383Pro)	single nucleotide variant	Peutz-Jeghers syndrome [RCV002590002]	Chr19:1226493 [GRCh38] Chr19:1226492 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1191G>T (p.Ala397=)	single nucleotide variant	Peutz-Jeghers syndrome [RCV002613248]	Chr19:1226536 [GRCh38] Chr19:1226535 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.811_812del (p.Ser271fs)	deletion	Peutz-Jeghers syndrome [RCV003050509]	Chr19:1221288..1221289 [GRCh38] Chr19:1221287..1221288 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.863-20C>G	single nucleotide variant	Peutz-Jeghers syndrome [RCV002612640]	Chr19:1221929 [GRCh38] Chr19:1221928 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.1243del (p.Arg415fs)	deletion	Hereditary cancer-predisposing syndrome [RCV003203483]	Chr19:1226586 [GRCh38] Chr19:1226585 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.374+5C>G	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003187692]	Chr19:1218505 [GRCh38] Chr19:1218504 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.42G>T (p.Glu14Asp)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003187693]	Chr19:1206955 [GRCh38] Chr19:1206954 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.513C>T (p.Gly171=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003187694]\|Peutz-Jeghers syndrome [RCV003618054]	Chr19:1220421 [GRCh38] Chr19:1220420 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.12G>C (p.Val4=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003187695]	Chr19:1206925 [GRCh38] Chr19:1206924 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.541_542dup (p.Asn181fs)	duplication	Hereditary cancer-predisposing syndrome [RCV003187696]	Chr19:1220448..1220449 [GRCh38] Chr19:1220447..1220448 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.62G>C (p.Gly21Ala)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003187697]	Chr19:1206975 [GRCh38] Chr19:1206974 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1135C>T (p.His379Tyr)	single nucleotide variant	not provided [RCV003221607]	Chr19:1226480 [GRCh38] Chr19:1226479 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.374+2T>A	single nucleotide variant	Gastric cancer [RCV003164590]	Chr19:1218502 [GRCh38] Chr19:1218501 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.157del (p.Asp53fs)	deletion	Hereditary cancer-predisposing syndrome [RCV003203531]\|not provided [RCV003481468]	Chr19:1207066 [GRCh38] Chr19:1207065 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.292G>A (p.Glu98Lys)	single nucleotide variant	Peutz-Jeghers syndrome [RCV003142473]	Chr19:1218418 [GRCh38] Chr19:1218417 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.142A>G (p.Lys48Glu)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003300751]	Chr19:1207055 [GRCh38] Chr19:1207054 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1090C>T (p.Gln364Ter)	single nucleotide variant	Gastric cancer [RCV003164592]\|Hereditary cancer-predisposing syndrome [RCV003164591]\|Peutz-Jeghers syndrome [RCV003235727]	Chr19:1223154 [GRCh38] Chr19:1223153 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.455A>T (p.Gln152Leu)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003186179]	Chr19:1219404 [GRCh38] Chr19:1219403 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.272G>A (p.Gly91Glu)	single nucleotide variant	not provided [RCV003219042]	Chr19:1207185 [GRCh38] Chr19:1207184 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1184C>T (p.Thr395Ile)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003203297]	Chr19:1226529 [GRCh38] Chr19:1226528 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.481A>C (p.Ile161Leu)	single nucleotide variant	not specified [RCV003322389]	Chr19:1220389 [GRCh38] Chr19:1220388 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.735-46A>G	single nucleotide variant	not specified [RCV003322392]	Chr19:1221167 [GRCh38] Chr19:1221166 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.1181G>T (p.Gly394Val)	single nucleotide variant	not specified [RCV003322394]	Chr19:1226526 [GRCh38] Chr19:1226525 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.734+49G>C	single nucleotide variant	not specified [RCV003322391]	Chr19:1220766 [GRCh38] Chr19:1220765 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.862+27G>C	single nucleotide variant	not specified [RCV003322393]	Chr19:1221367 [GRCh38] Chr19:1221366 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.297T>A (p.Ile99=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003306577]	Chr19:1218423 [GRCh38] Chr19:1218422 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.1232_1243del (p.Pro411_Ala414del)	deletion	Hereditary cancer-predisposing syndrome [RCV003306578]	Chr19:1226573..1226584 [GRCh38] Chr19:1226572..1226583 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.511G>C (p.Gly171Arg)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003306579]	Chr19:1220419 [GRCh38] Chr19:1220418 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.597+22C>T	single nucleotide variant	not specified [RCV003322390]	Chr19:1220527 [GRCh38] Chr19:1220526 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.178dup (p.Tyr60fs)	duplication	not provided [RCV003326990]	Chr19:1207089..1207090 [GRCh38] Chr19:1207088..1207089 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.759C>G (p.Tyr253Ter)	single nucleotide variant	not provided [RCV003329606]	Chr19:1221237 [GRCh38] Chr19:1221236 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.536C>A (p.Pro179Gln)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003360637]	Chr19:1220444 [GRCh38] Chr19:1220443 [GRCh37] Chr19:19p13.3	likely pathogenic
NM_000455.5(STK11):c.619GAC[1] (p.Asp208del)	microsatellite	Hereditary cancer-predisposing syndrome [RCV003360636]	Chr19:1220602..1220604 [GRCh38] Chr19:1220601..1220603 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.547C>T (p.Leu183=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003360635]	Chr19:1220455 [GRCh38] Chr19:1220454 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.487_490del (p.Gly163fs)	deletion	Hereditary cancer-predisposing syndrome [RCV003360632]	Chr19:1220394..1220397 [GRCh38] Chr19:1220393..1220396 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.398T>A (p.Val133Glu)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003363835]	Chr19:1219347 [GRCh38] Chr19:1219346 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1151G>C (p.Arg384Pro)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003370910]\|Peutz-Jeghers syndrome [RCV003507505]	Chr19:1226496 [GRCh38] Chr19:1226495 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.921-112G>T	single nucleotide variant	Melanoma, cutaneous malignant, susceptibility to, 1 [RCV003463567]	Chr19:1222873 [GRCh38] Chr19:1222872 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1295A>G (p.Gln432Arg)	single nucleotide variant	Melanoma, cutaneous malignant, susceptibility to, 1 [RCV003463568]	Chr19:1226640 [GRCh38] Chr19:1226639 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.936A>C (p.Lys312Asn)	single nucleotide variant	Melanoma, cutaneous malignant, susceptibility to, 1 [RCV003463569]	Chr19:1223000 [GRCh38] Chr19:1222999 [GRCh37] Chr19:19p13.3	uncertain significance
NC_000019.10:g.1205344G>C	single nucleotide variant	not provided [RCV002511904]	Chr19:1205344 [GRCh38] Chr19:1205343 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.621C>A (p.Asp207Glu)	single nucleotide variant	not specified [RCV003489657]	Chr19:1220604 [GRCh38] Chr19:1220603 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.235A>G (p.Ile79Val)	single nucleotide variant	not provided [RCV003477378]	Chr19:1207148 [GRCh38] Chr19:1207147 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.367C>A (p.Gln123Lys)	single nucleotide variant	not provided [RCV003477379]	Chr19:1218493 [GRCh38] Chr19:1218492 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1108+19C>G	single nucleotide variant	Peutz-Jeghers syndrome [RCV003875178]	Chr19:1223191 [GRCh38] Chr19:1223190 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.423C>G (p.Asp141Glu)	single nucleotide variant	not provided [RCV003477380]	Chr19:1219372 [GRCh38] Chr19:1219371 [GRCh37] Chr19:19p13.3	uncertain significance
GRCh37/hg19 19p13.3-13.2(chr19:260912-7246777)x3	copy number gain	not provided [RCV003485190]	Chr19:260912..7246777 [GRCh37] Chr19:19p13.3-13.2	pathogenic
NM_000455.5(STK11):c.818C>G (p.Ala273Gly)	single nucleotide variant	not provided [RCV003477381]	Chr19:1221296 [GRCh38] Chr19:1221295 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1217del (p.Ala406fs)	deletion	Melanoma, cutaneous malignant, susceptibility to, 1 [RCV003466420]	Chr19:1226562 [GRCh38] Chr19:1226561 [GRCh37] Chr19:19p13.3	likely pathogenic
NM_000455.5(STK11):c.884C>G (p.Ala295Gly)	single nucleotide variant	Melanoma, cutaneous malignant, susceptibility to, 1 [RCV003466415]	Chr19:1221970 [GRCh38] Chr19:1221969 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1168G>T (p.Val390Leu)	single nucleotide variant	Melanoma, cutaneous malignant, susceptibility to, 1 [RCV003466419]	Chr19:1226513 [GRCh38] Chr19:1226512 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.921-113G>T	single nucleotide variant	Melanoma, cutaneous malignant, susceptibility to, 1 [RCV003463570]	Chr19:1222872 [GRCh38] Chr19:1222871 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.838C>A (p.Pro280Thr)	single nucleotide variant	Melanoma, cutaneous malignant, susceptibility to, 1 [RCV003466418]\|Peutz-Jeghers syndrome [RCV003618087]	Chr19:1221316 [GRCh38] Chr19:1221315 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.735-13C>G	single nucleotide variant	Peutz-Jeghers syndrome [RCV003882579]	Chr19:1221200 [GRCh38] Chr19:1221199 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.815dup (p.Tyr272Ter)	duplication	Peutz-Jeghers syndrome [RCV003508873]	Chr19:1221292..1221293 [GRCh38] Chr19:1221291..1221292 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.863-13G>C	single nucleotide variant	Peutz-Jeghers syndrome [RCV003507641]	Chr19:1221936 [GRCh38] Chr19:1221935 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.920+6_920+21del	deletion	Peutz-Jeghers syndrome [RCV003507664]	Chr19:1222010..1222025 [GRCh38] Chr19:1222009..1222024 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.748del (p.Thr250fs)	deletion	Peutz-Jeghers syndrome [RCV003507754]	Chr19:1221226 [GRCh38] Chr19:1221225 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.452G>T (p.Cys151Phe)	single nucleotide variant	Peutz-Jeghers syndrome [RCV003507941]	Chr19:1219401 [GRCh38] Chr19:1219400 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.45C>G (p.Gly15=)	single nucleotide variant	Peutz-Jeghers syndrome [RCV003508125]	Chr19:1206958 [GRCh38] Chr19:1206957 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.537G>C (p.Pro179=)	single nucleotide variant	Peutz-Jeghers syndrome [RCV003508199]	Chr19:1220445 [GRCh38] Chr19:1220444 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.634A>C (p.Thr212Pro)	single nucleotide variant	Peutz-Jeghers syndrome [RCV003508152]	Chr19:1220617 [GRCh38] Chr19:1220616 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.734+13C>T	single nucleotide variant	Peutz-Jeghers syndrome [RCV003508416]	Chr19:1220730 [GRCh38] Chr19:1220729 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.467A>G (p.Tyr156Cys)	single nucleotide variant	Peutz-Jeghers syndrome [RCV003507685]	Chr19:1220375 [GRCh38] Chr19:1220374 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.913C>G (p.Gln305Glu)	single nucleotide variant	Peutz-Jeghers syndrome [RCV003508451]	Chr19:1221999 [GRCh38] Chr19:1221998 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1119A>C (p.Pro373=)	single nucleotide variant	Peutz-Jeghers syndrome [RCV003506811]	Chr19:1226464 [GRCh38] Chr19:1226463 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.921-15T>C	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003585833]\|Peutz-Jeghers syndrome [RCV003618100]	Chr19:1222970 [GRCh38] Chr19:1222969 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.1194dup (p.Gln399fs)	duplication	Peutz-Jeghers syndrome [RCV003506866]	Chr19:1226538..1226539 [GRCh38] Chr19:1226537..1226538 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.469T>G (p.Phe157Val)	single nucleotide variant	Peutz-Jeghers syndrome [RCV003506887]	Chr19:1220377 [GRCh38] Chr19:1220376 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.597+12C>T	single nucleotide variant	Peutz-Jeghers syndrome [RCV003506955]	Chr19:1220517 [GRCh38] Chr19:1220516 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.257G>A (p.Arg86Gln)	single nucleotide variant	Peutz-Jeghers syndrome [RCV003506978]	Chr19:1207170 [GRCh38] Chr19:1207169 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.137T>A (p.Ile46Asn)	single nucleotide variant	Peutz-Jeghers syndrome [RCV003507859]	Chr19:1207050 [GRCh38] Chr19:1207049 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.375-20G>T	single nucleotide variant	Peutz-Jeghers syndrome [RCV003508654]	Chr19:1219304 [GRCh38] Chr19:1219303 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.597+7A>G	single nucleotide variant	Peutz-Jeghers syndrome [RCV003507037]	Chr19:1220512 [GRCh38] Chr19:1220511 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.633G>A (p.Arg211=)	single nucleotide variant	Peutz-Jeghers syndrome [RCV003507106]	Chr19:1220616 [GRCh38] Chr19:1220615 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.863-20C>A	single nucleotide variant	Peutz-Jeghers syndrome [RCV003508018]	Chr19:1221929 [GRCh38] Chr19:1221928 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.597+16G>C	single nucleotide variant	Peutz-Jeghers syndrome [RCV003508077]	Chr19:1220521 [GRCh38] Chr19:1220520 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.5A>G (p.Glu2Gly)	single nucleotide variant	Peutz-Jeghers syndrome [RCV003507200]	Chr19:1206918 [GRCh38] Chr19:1206917 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.602_606del (p.Leu201fs)	deletion	Peutz-Jeghers syndrome [RCV003508093]	Chr19:1220581..1220585 [GRCh38] Chr19:1220580..1220584 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.371A>C (p.Lys124Thr)	single nucleotide variant	Peutz-Jeghers syndrome [RCV003508109]	Chr19:1218497 [GRCh38] Chr19:1218496 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.330C>A (p.Val110=)	single nucleotide variant	Peutz-Jeghers syndrome [RCV003508113]	Chr19:1218456 [GRCh38] Chr19:1218455 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.924G>T (p.Trp308Cys)	single nucleotide variant	Peutz-Jeghers syndrome [RCV003508874]	Chr19:1222988 [GRCh38] Chr19:1222987 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.695C>T (p.Ser232Phe)	single nucleotide variant	Peutz-Jeghers syndrome [RCV003508191]	Chr19:1220678 [GRCh38] Chr19:1220677 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1189_1190delinsTT (p.Ala397Leu)	indel	Peutz-Jeghers syndrome [RCV003508943]	Chr19:1226534..1226535 [GRCh38] Chr19:1226533..1226534 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.734+12_734+17dup	duplication	Peutz-Jeghers syndrome [RCV003508967]	Chr19:1220724..1220725 [GRCh38] Chr19:1220723..1220724 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.334C>A (p.Gln112Lys)	single nucleotide variant	Peutz-Jeghers syndrome [RCV003507959]	Chr19:1218460 [GRCh38] Chr19:1218459 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.162G>A (p.Leu54=)	single nucleotide variant	Peutz-Jeghers syndrome [RCV003508789]	Chr19:1207075 [GRCh38] Chr19:1207074 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.429G>A (p.Val143=)	single nucleotide variant	Peutz-Jeghers syndrome [RCV003508795]	Chr19:1219378 [GRCh38] Chr19:1219377 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.1036_1037del (p.Gly346fs)	deletion	Peutz-Jeghers syndrome [RCV003485928]	Chr19:1223100..1223101 [GRCh38] Chr19:1223099..1223100 [GRCh37] Chr19:19p13.3	likely pathogenic
NM_000455.5(STK11):c.1175T>A (p.Met392Lys)	single nucleotide variant	Peutz-Jeghers syndrome [RCV003507028]	Chr19:1226520 [GRCh38] Chr19:1226519 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1173T>G (p.Cys391Trp)	single nucleotide variant	Peutz-Jeghers syndrome [RCV003507212]	Chr19:1226518 [GRCh38] Chr19:1226517 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.646dup (p.Ser216fs)	duplication	Peutz-Jeghers syndrome [RCV003507230]	Chr19:1220628..1220629 [GRCh38] Chr19:1220627..1220628 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.280A>G (p.Asn94Asp)	single nucleotide variant	Peutz-Jeghers syndrome [RCV003508980]	Chr19:1207193 [GRCh38] Chr19:1207192 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.374+18G>C	single nucleotide variant	Peutz-Jeghers syndrome [RCV003506844]	Chr19:1218518 [GRCh38] Chr19:1218517 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.375-10A>T	single nucleotide variant	Peutz-Jeghers syndrome [RCV003506985]	Chr19:1219314 [GRCh38] Chr19:1219313 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.375-18G>C	single nucleotide variant	Peutz-Jeghers syndrome [RCV003507052]	Chr19:1219306 [GRCh38] Chr19:1219305 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.140G>T (p.Gly47Val)	single nucleotide variant	Peutz-Jeghers syndrome [RCV003507542]	Chr19:1207053 [GRCh38] Chr19:1207052 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.606C>A (p.His202Gln)	single nucleotide variant	Peutz-Jeghers syndrome [RCV003875911]	Chr19:1220589 [GRCh38] Chr19:1220588 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.36C>T (p.Phe12=)	single nucleotide variant	Peutz-Jeghers syndrome [RCV003508511]	Chr19:1206949 [GRCh38] Chr19:1206948 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.897_905del (p.300IRQ[1])	deletion	Peutz-Jeghers syndrome [RCV003507762]	Chr19:1221983..1221991 [GRCh38] Chr19:1221982..1221990 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.786G>A (p.Lys262=)	single nucleotide variant	Peutz-Jeghers syndrome [RCV003825503]	Chr19:1221264 [GRCh38] Chr19:1221263 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.132G>C (p.Lys44Asn)	single nucleotide variant	Peutz-Jeghers syndrome [RCV003506999]	Chr19:1207045 [GRCh38] Chr19:1207044 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.784A>C (p.Lys262Gln)	single nucleotide variant	Peutz-Jeghers syndrome [RCV003506914]	Chr19:1221262 [GRCh38] Chr19:1221261 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.598-16C>T	single nucleotide variant	Peutz-Jeghers syndrome [RCV003506970]	Chr19:1220565 [GRCh38] Chr19:1220564 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.78C>T (p.Ile26=)	single nucleotide variant	Peutz-Jeghers syndrome [RCV003507157]	Chr19:1206991 [GRCh38] Chr19:1206990 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.204C>G (p.Asp68Glu)	single nucleotide variant	Peutz-Jeghers syndrome [RCV003508438]	Chr19:1207117 [GRCh38] Chr19:1207116 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.597+16_597+17insTA	insertion	Peutz-Jeghers syndrome [RCV003508441]	Chr19:1220521..1220522 [GRCh38] Chr19:1220520..1220521 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.597+20G>C	single nucleotide variant	Peutz-Jeghers syndrome [RCV003508442]	Chr19:1220525 [GRCh38] Chr19:1220524 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.597+10T>C	single nucleotide variant	not specified [RCV003494226]	Chr19:1220515 [GRCh38] Chr19:1220514 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.892T>C (p.Phe298Leu)	single nucleotide variant	Peutz-Jeghers syndrome [RCV003507155]	Chr19:1221978 [GRCh38] Chr19:1221977 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.375-16G>C	single nucleotide variant	Peutz-Jeghers syndrome [RCV003508536]	Chr19:1219308 [GRCh38] Chr19:1219307 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.395G>A (p.Cys132Tyr)	single nucleotide variant	Peutz-Jeghers syndrome [RCV003507519]	Chr19:1219344 [GRCh38] Chr19:1219343 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.291-40C>T	single nucleotide variant	not specified [RCV003494225]	Chr19:1218377 [GRCh38] Chr19:1218376 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.464+20dup	duplication	Peutz-Jeghers syndrome [RCV003507649]	Chr19:1219429..1219430 [GRCh38] Chr19:1219428..1219429 [GRCh37] Chr19:19p13.3	benign
NM_000455.5(STK11):c.734+16C>T	single nucleotide variant	Peutz-Jeghers syndrome [RCV003507751]	Chr19:1220733 [GRCh38] Chr19:1220732 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.375-8C>G	single nucleotide variant	Peutz-Jeghers syndrome [RCV003507795]	Chr19:1219316 [GRCh38] Chr19:1219315 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.393C>T (p.Tyr131=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003585827]\|Peutz-Jeghers syndrome [RCV003618099]	Chr19:1219342 [GRCh38] Chr19:1219341 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.1082T>G (p.Ile361Ser)	single nucleotide variant	Peutz-Jeghers syndrome [RCV003508076]	Chr19:1223146 [GRCh38] Chr19:1223145 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.271G>A (p.Gly91Arg)	single nucleotide variant	Peutz-Jeghers syndrome [RCV003507720]	Chr19:1207184 [GRCh38] Chr19:1207183 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.971C>A (p.Pro324Gln)	single nucleotide variant	Peutz-Jeghers syndrome [RCV003507786]	Chr19:1223035 [GRCh38] Chr19:1223034 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.920+8G>T	single nucleotide variant	Peutz-Jeghers syndrome [RCV003508067]	Chr19:1222014 [GRCh38] Chr19:1222013 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.1109-13G>C	single nucleotide variant	Peutz-Jeghers syndrome [RCV003508100]	Chr19:1226441 [GRCh38] Chr19:1226440 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.1196A>G (p.Gln399Arg)	single nucleotide variant	Peutz-Jeghers syndrome [RCV003508012]	Chr19:1226541 [GRCh38] Chr19:1226540 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1108+6T>G	single nucleotide variant	Peutz-Jeghers syndrome [RCV003508102]	Chr19:1223178 [GRCh38] Chr19:1223177 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1108+17C>T	single nucleotide variant	Peutz-Jeghers syndrome [RCV003506781]	Chr19:1223189 [GRCh38] Chr19:1223188 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.735-21_735-11del	deletion	Peutz-Jeghers syndrome [RCV003508257]	Chr19:1221192..1221202 [GRCh38] Chr19:1221191..1221201 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.598-12G>C	single nucleotide variant	Peutz-Jeghers syndrome [RCV003617500]	Chr19:1220569 [GRCh38] Chr19:1220568 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.309G>A (p.Arg103=)	single nucleotide variant	Peutz-Jeghers syndrome [RCV003618313]	Chr19:1218435 [GRCh38] Chr19:1218434 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.766G>C (p.Glu256Gln)	single nucleotide variant	Peutz-Jeghers syndrome [RCV003618683]	Chr19:1221244 [GRCh38] Chr19:1221243 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.42G>C (p.Glu14Asp)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003585823]	Chr19:1206955 [GRCh38] Chr19:1206954 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.139G>C (p.Gly47Arg)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003585824]	Chr19:1207052 [GRCh38] Chr19:1207051 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.291-12T>A	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003585825]	Chr19:1218405 [GRCh38] Chr19:1218404 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.798C>T (p.Asn266=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003585831]	Chr19:1221276 [GRCh38] Chr19:1221275 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.920+3G>A	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003585832]	Chr19:1222009 [GRCh38] Chr19:1222008 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1014G>A (p.Val338=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003585834]	Chr19:1223078 [GRCh38] Chr19:1223077 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.1071G>C (p.Glu357Asp)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003585835]	Chr19:1223135 [GRCh38] Chr19:1223134 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1220A>G (p.Glu407Gly)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003585836]	Chr19:1226565 [GRCh38] Chr19:1226564 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1265G>T (p.Ser422Ile)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003585838]	Chr19:1226610 [GRCh38] Chr19:1226609 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1041G>T (p.Ala347=)	single nucleotide variant	Peutz-Jeghers syndrome [RCV003619057]	Chr19:1223105 [GRCh38] Chr19:1223104 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.644G>T (p.Gly215Val)	single nucleotide variant	Peutz-Jeghers syndrome [RCV003617335]	Chr19:1220627 [GRCh38] Chr19:1220626 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.124C>G (p.Arg42Gly)	single nucleotide variant	Peutz-Jeghers syndrome [RCV003617404]	Chr19:1207037 [GRCh38] Chr19:1207036 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.915_920+5delinsCATCCGGCAGATCCGGCAGATGCCGGCAGATCCGGCAGATCCGGCAGATC	indel	Peutz-Jeghers syndrome [RCV003618753]	Chr19:1222001..1222011 [GRCh38] Chr19:1222000..1222010 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.332T>A (p.Ile111Asn)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003585826]	Chr19:1218458 [GRCh38] Chr19:1218457 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.568C>G (p.Leu190Val)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003585828]	Chr19:1220476 [GRCh38] Chr19:1220475 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.598G>T (p.Ala200Ser)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003585830]	Chr19:1220581 [GRCh38] Chr19:1220580 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1253G>T (p.Cys418Phe)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003585837]	Chr19:1226598 [GRCh38] Chr19:1226597 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.877G>C (p.Glu293Gln)	single nucleotide variant	Peutz-Jeghers syndrome [RCV003618280]	Chr19:1221963 [GRCh38] Chr19:1221962 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.465-19G>C	single nucleotide variant	Peutz-Jeghers syndrome [RCV003619012]	Chr19:1220354 [GRCh38] Chr19:1220353 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.939T>C (p.His313=)	single nucleotide variant	Peutz-Jeghers syndrome [RCV003618341]	Chr19:1223003 [GRCh38] Chr19:1223002 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.505A>G (p.Ser169Gly)	single nucleotide variant	Peutz-Jeghers syndrome [RCV003617485]	Chr19:1220413 [GRCh38] Chr19:1220412 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.352T>G (p.Tyr118Asp)	single nucleotide variant	Peutz-Jeghers syndrome [RCV003617486]	Chr19:1218478 [GRCh38] Chr19:1218477 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.287A>G (p.Lys96Arg)	single nucleotide variant	Peutz-Jeghers syndrome [RCV003618385]	Chr19:1207200 [GRCh38] Chr19:1207199 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.62dup (p.Met22fs)	duplication	Peutz-Jeghers syndrome [RCV003617520]	Chr19:1206972..1206973 [GRCh38] Chr19:1206971..1206972 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.966C>T (p.Ile322=)	single nucleotide variant	Peutz-Jeghers syndrome [RCV003617535]	Chr19:1223030 [GRCh38] Chr19:1223029 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.1109-19C>G	single nucleotide variant	Peutz-Jeghers syndrome [RCV003618424]	Chr19:1226435 [GRCh38] Chr19:1226434 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.1250C>A (p.Ala417Asp)	single nucleotide variant	Peutz-Jeghers syndrome [RCV003618487]	Chr19:1226595 [GRCh38] Chr19:1226594 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.804G>T (p.Gly268=)	single nucleotide variant	Peutz-Jeghers syndrome [RCV003617400]	Chr19:1221282 [GRCh38] Chr19:1221281 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1110A>G (p.Gly370=)	single nucleotide variant	Peutz-Jeghers syndrome [RCV003618581]	Chr19:1226455 [GRCh38] Chr19:1226454 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.1109-19C>A	single nucleotide variant	Peutz-Jeghers syndrome [RCV003617424]	Chr19:1226435 [GRCh38] Chr19:1226434 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.1177A>T (p.Asn393Tyr)	single nucleotide variant	Peutz-Jeghers syndrome [RCV003617445]	Chr19:1226522 [GRCh38] Chr19:1226521 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.979G>C (p.Asp327His)	single nucleotide variant	Peutz-Jeghers syndrome [RCV003618494]	Chr19:1223043 [GRCh38] Chr19:1223042 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.557C>T (p.Thr186Ile)	single nucleotide variant	Peutz-Jeghers syndrome [RCV003618623]	Chr19:1220465 [GRCh38] Chr19:1220464 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.439C>G (p.Arg147Gly)	single nucleotide variant	Peutz-Jeghers syndrome [RCV003618626]	Chr19:1219388 [GRCh38] Chr19:1219387 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.597+4G>C	single nucleotide variant	Peutz-Jeghers syndrome [RCV003618644]	Chr19:1220509 [GRCh38] Chr19:1220508 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1109-20A>G	single nucleotide variant	Peutz-Jeghers syndrome [RCV003618130]	Chr19:1226434 [GRCh38] Chr19:1226433 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.734+22dup	duplication	Peutz-Jeghers syndrome [RCV003618666]	Chr19:1220736..1220737 [GRCh38] Chr19:1220735..1220736 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.885C>T (p.Ala295=)	single nucleotide variant	Peutz-Jeghers syndrome [RCV003618148]	Chr19:1221971 [GRCh38] Chr19:1221970 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.1165G>A (p.Ala389Thr)	single nucleotide variant	Peutz-Jeghers syndrome [RCV003618150]	Chr19:1226510 [GRCh38] Chr19:1226509 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1037G>A (p.Gly346Asp)	single nucleotide variant	Peutz-Jeghers syndrome [RCV003618183]	Chr19:1223101 [GRCh38] Chr19:1223100 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.465-13G>A	single nucleotide variant	Peutz-Jeghers syndrome [RCV003617666]	Chr19:1220360 [GRCh38] Chr19:1220359 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.95C>T (p.Thr32Ile)	single nucleotide variant	Peutz-Jeghers syndrome [RCV003618452]	Chr19:1207008 [GRCh38] Chr19:1207007 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.710A>C (p.Asp237Ala)	single nucleotide variant	Peutz-Jeghers syndrome [RCV003618462]	Chr19:1220693 [GRCh38] Chr19:1220692 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.912G>A (p.Arg304=)	single nucleotide variant	Peutz-Jeghers syndrome [RCV003617430]	Chr19:1221998 [GRCh38] Chr19:1221997 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.1109-20A>T	single nucleotide variant	Peutz-Jeghers syndrome [RCV003618472]	Chr19:1226434 [GRCh38] Chr19:1226433 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.140G>A (p.Gly47Asp)	single nucleotide variant	Peutz-Jeghers syndrome [RCV003618523]	Chr19:1207053 [GRCh38] Chr19:1207052 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.465-16T>C	single nucleotide variant	Peutz-Jeghers syndrome [RCV003618803]	Chr19:1220357 [GRCh38] Chr19:1220356 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.1108+10G>C	single nucleotide variant	Peutz-Jeghers syndrome [RCV003618110]	Chr19:1223182 [GRCh38] Chr19:1223181 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.1192G>C (p.Ala398Pro)	single nucleotide variant	Peutz-Jeghers syndrome [RCV003617631]	Chr19:1226537 [GRCh38] Chr19:1226536 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.735-16T>G	single nucleotide variant	Peutz-Jeghers syndrome [RCV003617706]	Chr19:1221197 [GRCh38] Chr19:1221196 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.921-13T>C	single nucleotide variant	Peutz-Jeghers syndrome [RCV003619051]	Chr19:1222972 [GRCh38] Chr19:1222971 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.735-10C>G	single nucleotide variant	Peutz-Jeghers syndrome [RCV003618139]	Chr19:1221203 [GRCh38] Chr19:1221202 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.862+3G>A	single nucleotide variant	Peutz-Jeghers syndrome [RCV003618159]	Chr19:1221343 [GRCh38] Chr19:1221342 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.339G>A (p.Leu113=)	single nucleotide variant	Peutz-Jeghers syndrome [RCV003619092]	Chr19:1218465 [GRCh38] Chr19:1218464 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.587G>A (p.Gly196Asp)	single nucleotide variant	Peutz-Jeghers syndrome [RCV003617395]	Chr19:1220495 [GRCh38] Chr19:1220494 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.374+5C>T	single nucleotide variant	Peutz-Jeghers syndrome [RCV003618210]	Chr19:1218505 [GRCh38] Chr19:1218504 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.715_719dup (p.Ala241fs)	duplication	Peutz-Jeghers syndrome [RCV003618367]	Chr19:1220695..1220696 [GRCh38] Chr19:1220694..1220695 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.1124A>C (p.Glu375Ala)	single nucleotide variant	Peutz-Jeghers syndrome [RCV003618377]	Chr19:1226469 [GRCh38] Chr19:1226468 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1021T>C (p.Leu341=)	single nucleotide variant	Peutz-Jeghers syndrome [RCV003617414]	Chr19:1223085 [GRCh38] Chr19:1223084 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.1281G>C (p.Leu427=)	single nucleotide variant	Peutz-Jeghers syndrome [RCV003618498]	Chr19:1226626 [GRCh38] Chr19:1226625 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.290+6T>C	single nucleotide variant	Peutz-Jeghers syndrome [RCV003617509]	Chr19:1207209 [GRCh38] Chr19:1207208 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.910C>G (p.Arg304Gly)	single nucleotide variant	Peutz-Jeghers syndrome [RCV003617557]	Chr19:1221996 [GRCh38] Chr19:1221995 [GRCh37] Chr19:19p13.3	likely pathogenic
NM_000455.5(STK11):c.476A>G (p.Gln159Arg)	single nucleotide variant	Peutz-Jeghers syndrome [RCV003617594]	Chr19:1220384 [GRCh38] Chr19:1220383 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.478C>G (p.Leu160Val)	single nucleotide variant	Peutz-Jeghers syndrome [RCV003617602]	Chr19:1220386 [GRCh38] Chr19:1220385 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.735-16T>A	single nucleotide variant	Peutz-Jeghers syndrome [RCV003618328]	Chr19:1221197 [GRCh38] Chr19:1221196 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.1108+16dup	duplication	Peutz-Jeghers syndrome [RCV003618322]	Chr19:1223183..1223184 [GRCh38] Chr19:1223182..1223183 [GRCh37] Chr19:19p13.3	benign
NM_000455.5(STK11):c.291-19C>T	single nucleotide variant	Peutz-Jeghers syndrome [RCV003617639]	Chr19:1218398 [GRCh38] Chr19:1218397 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.291-14C>G	single nucleotide variant	Peutz-Jeghers syndrome [RCV003618655]	Chr19:1218403 [GRCh38] Chr19:1218402 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.563G>A (p.Gly188Asp)	single nucleotide variant	Peutz-Jeghers syndrome [RCV003618402]	Chr19:1220471 [GRCh38] Chr19:1220470 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.290+19G>C	single nucleotide variant	Peutz-Jeghers syndrome [RCV003618963]	Chr19:1207222 [GRCh38] Chr19:1207221 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.902G>C (p.Arg301Pro)	single nucleotide variant	Peutz-Jeghers syndrome [RCV003618790]	Chr19:1221988 [GRCh38] Chr19:1221987 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.374+10C>T	single nucleotide variant	Peutz-Jeghers syndrome [RCV003820411]	Chr19:1218510 [GRCh38] Chr19:1218509 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.920+14G>A	single nucleotide variant	Peutz-Jeghers syndrome [RCV003845996]	Chr19:1222020 [GRCh38] Chr19:1222019 [GRCh37] Chr19:19p13.3	likely benign
GRCh37/hg19 19p13.3(chr19:260911-1210337)x1	copy number loss	not specified [RCV003986113]	Chr19:260911..1210337 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.961_962delinsT (p.Pro321fs)	indel	Peutz-Jeghers syndrome [RCV003867381]	Chr19:1223025..1223026 [GRCh38] Chr19:1223024..1223025 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.156G>A (p.Gly52=)	single nucleotide variant	Peutz-Jeghers syndrome [RCV003868607]	Chr19:1207069 [GRCh38] Chr19:1207068 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.492G>A (p.Leu164=)	single nucleotide variant	Peutz-Jeghers syndrome [RCV003844753]	Chr19:1220400 [GRCh38] Chr19:1220399 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.290+20G>T	single nucleotide variant	Peutz-Jeghers syndrome [RCV003818559]	Chr19:1207223 [GRCh38] Chr19:1207222 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.599C>T (p.Ala200Val)	single nucleotide variant	Peutz-Jeghers syndrome [RCV003858514]	Chr19:1220582 [GRCh38] Chr19:1220581 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.464+10C>G	single nucleotide variant	STK11-related condition [RCV003949245]	Chr19:1219423 [GRCh38] Chr19:1219422 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.865A>G (p.Met289Val)	single nucleotide variant	Peutz-Jeghers syndrome [RCV003618561]	Chr19:1221951 [GRCh38] Chr19:1221950 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1206C>T (p.Thr402=)	single nucleotide variant	Peutz-Jeghers syndrome [RCV002867505]	Chr19:1226551 [GRCh38] Chr19:1226550 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.213G>C (p.Thr71=)	single nucleotide variant	Peutz-Jeghers syndrome [RCV002624228]	Chr19:1207126 [GRCh38] Chr19:1207125 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.260G>A (p.Arg87Lys)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003187689]	Chr19:1207173 [GRCh38] Chr19:1207172 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.196G>T (p.Val66Leu)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003187690]	Chr19:1207109 [GRCh38] Chr19:1207108 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1109G>C (p.Gly370Ala)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003187691]\|Peutz-Jeghers syndrome [RCV003779546]	Chr19:1226454 [GRCh38] Chr19:1226453 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1222G>C (p.Gly408Arg)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003187698]	Chr19:1226567 [GRCh38] Chr19:1226566 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.883G>T (p.Ala295Ser)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003187699]	Chr19:1221969 [GRCh38] Chr19:1221968 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.717del (p.Trp239fs)	deletion	Peutz-Jeghers syndrome [RCV003338153]	Chr19:1220699 [GRCh38] Chr19:1220698 [GRCh37] Chr19:19p13.3	likely pathogenic
NM_000455.5(STK11):c.26T>C (p.Leu9Pro)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003368073]\|Peutz-Jeghers syndrome [RCV003337821]	Chr19:1206939 [GRCh38] Chr19:1206938 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.1124A>T (p.Glu375Val)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003356787]	Chr19:1226469 [GRCh38] Chr19:1226468 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.794A>C (p.Glu265Ala)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003358375]	Chr19:1221272 [GRCh38] Chr19:1221271 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.849T>G (p.Ser283=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003358374]	Chr19:1221327 [GRCh38] Chr19:1221326 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.202G>A (p.Asp68Asn)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003358371]	Chr19:1207115 [GRCh38] Chr19:1207114 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.984C>T (p.Thr328=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003358373]	Chr19:1223048 [GRCh38] Chr19:1223047 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.598-21_598dup	duplication	Hereditary cancer-predisposing syndrome [RCV003358372]	Chr19:1220558..1220559 [GRCh38] Chr19:1220557..1220558 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.988G>A (p.Asp330Asn)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003360639]	Chr19:1223052 [GRCh38] Chr19:1223051 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.290+4A>C	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003360634]	Chr19:1207207 [GRCh38] Chr19:1207206 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.993G>C (p.Arg331=)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003360633]	Chr19:1223057 [GRCh38] Chr19:1223056 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.737ACA[1] (p.Asn247del)	microsatellite	Hereditary cancer-predisposing syndrome [RCV003360631]\|Peutz-Jeghers syndrome [RCV003507502]	Chr19:1221215..1221217 [GRCh38] Chr19:1221214..1221216 [GRCh37] Chr19:19p13.3	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance
NM_000455.5(STK11):c.33G>C (p.Met11Ile)	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003360638]	Chr19:1206946 [GRCh38] Chr19:1206945 [GRCh37] Chr19:19p13.3	uncertain significance
NM_000455.5(STK11):c.*309G>A	single nucleotide variant	Hereditary cancer-predisposing syndrome [RCV003482221]	Chr19:1227885 [GRCh38] Chr19:1227884 [GRCh37] Chr19:19p13.3	likely benign
NC_000019.10:g.1201926G>A	single nucleotide variant	not provided [RCV002276059]	Chr19:1201926 [GRCh38] Chr19:1201925 [GRCh37] Chr19:19p13.3	benign\|likely benign
NM_000455.5(STK11):c.375del (p.Met125fs)	deletion	Peutz-Jeghers syndrome [RCV003506981]	Chr19:1219324 [GRCh38] Chr19:1219323 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.471_472del (p.Phe157fs)	deletion	Peutz-Jeghers syndrome [RCV003619011]	Chr19:1220378..1220379 [GRCh38] Chr19:1220377..1220378 [GRCh37] Chr19:19p13.3	pathogenic
NM_000455.5(STK11):c.920+10C>T	single nucleotide variant	Peutz-Jeghers syndrome [RCV003618199]	Chr19:1222016 [GRCh38] Chr19:1222015 [GRCh37] Chr19:19p13.3	likely benign
NM_000455.5(STK11):c.752G>T (p.Gly251Val)	single nucleotide variant	Peutz-Jeghers syndrome [RCV003617337]	Chr19:1221230 [GRCh38] Chr19:1221229 [GRCh37] Chr19:19p13.3	likely pathogenic

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	3375
Count of miRNA genes:	955
Interacting mature miRNAs:	1221
Transcripts:	ENST00000326873, ENST00000585465, ENST00000585748, ENST00000585851, ENST00000586243, ENST00000586358, ENST00000589152, ENST00000591133, ENST00000593219
Prediction methods:	Miranda, Rnahybrid
Result types:	miRGate_prediction

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

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

Markers in Region

RH104368

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	19	1,223,679 - 1,223,869	UniSTS	GRCh37
Build 36	19	1,174,679 - 1,174,869	RGD	NCBI36
Celera	19	1,157,912 - 1,158,102	RGD
Cytogenetic Map	19	p13.3	UniSTS
HuRef	19	999,360 - 999,550	UniSTS
GeneMap99-GB4 RH Map	19	6.06	UniSTS

REU1905

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	19	1,209,529 - 1,209,710	UniSTS	GRCh37
Build 36	19	1,160,529 - 1,160,710	RGD	NCBI36
Celera	19	1,143,762 - 1,143,943	RGD
Cytogenetic Map	19	p13.3	UniSTS
HuRef	19	985,198 - 985,379	UniSTS

Expression

RNA-SEQ Expression

High: > 1000 TPM value Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system

circulatory system

endocrine system

exocrine system

hemolymphoid system

hepatobiliary system

integumental system

musculoskeletal system

nervous system

renal system

reproductive system

respiratory system

sensory system

adipose tissue

appendage

entire extraembryonic component

High

Medium

2411

2767

1566

469

1890

313

4349

2042

3197

326

1420

1561

170

1203

2788

Low

217

157

153

151

511

Below cutoff

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NG_007460	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_000455	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001407255	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NR_176325	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AB209553	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC004221	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC011544	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF035625	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF217978	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AH005839	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AH006100	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AJ844634	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK128518	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK314858	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC007981	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC019334	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BM993274	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BQ222023	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BU174122	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BU739451	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471139	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068259	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	EF644172	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	GU573916	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KU178339	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KU178340	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	U63333	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

ENST00000326873 ⟹ ENSP00000324856

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	1,205,778 - 1,228,431 (+)	Ensembl

RefSeq Acc Id:

ENST00000585465 ⟹ ENSP00000490268

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	1,205,778 - 1,228,095 (+)	Ensembl

RefSeq Acc Id:

ENST00000585748 ⟹ ENSP00000477641

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	1,177,558 - 1,228,431 (+)	Ensembl

RefSeq Acc Id:

ENST00000585851 ⟹ ENSP00000467912

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	1,206,869 - 1,228,431 (+)	Ensembl

RefSeq Acc Id:

ENST00000586243 ⟹ ENSP00000467240

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	1,205,805 - 1,228,094 (+)	Ensembl

RefSeq Acc Id:

ENST00000586358

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	1,207,091 - 1,221,958 (+)	Ensembl

RefSeq Acc Id:

ENST00000589152

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	1,206,824 - 1,228,012 (+)	Ensembl

RefSeq Acc Id:

ENST00000591133

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	1,220,013 - 1,223,104 (+)	Ensembl

RefSeq Acc Id:

ENST00000593219 ⟹ ENSP00000466610

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	1,206,816 - 1,219,357 (+)	Ensembl

RefSeq Acc Id:

ENST00000652231 ⟹ ENSP00000498804

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	1,206,186 - 1,223,873 (+)	Ensembl

RefSeq Acc Id:

NM_000455 ⟹ NP_000446

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	1,205,778 - 1,228,431 (+)	NCBI
GRCh37	19	1,205,798 - 1,228,434 (+)	ENTREZGENE
Build 36	19	1,156,798 - 1,179,434 (+)	NCBI Archive
HuRef	19	981,572 - 1,004,116 (+)	ENTREZGENE
CHM1_1	19	1,205,350 - 1,228,397 (+)	NCBI
T2T-CHM13v2.0	19	1,174,325 - 1,196,989 (+)	NCBI

Sequence:

show sequence

GAGGTAAACAAGATGGCGGCGGCGTGTCGGGCGCGGAAGGGGGAGGCGGCCCGGGGCGCCCGCG
AGTGAGGCGCGGGGCGGCGAAGGGAGCGCGGGTGGCGGCACTTGCTGCCGCGGCCTTGGATGGG
CTGGGCCCCCCTCGCCGCTCCGCCTCCTCCACACGCGCGGCGGCCGCGGCGAGGGGGACGCGCC
GCCCGGGGCCCGGCACCTTCGGGAACCCCCCGGCCCGGAGCCTGCGGCCTGCGCCGCCTCGGCC
GCCGGGAGCCCCGTGGAGCCCCCGCCGCCGCGCCGCCCCGCGGACCGGACGCTGAGGGCACTCG
GGGCGGGGCGCGCGCTCGGGCAGACGTTTGCGGGGAGGGGGGCGCCTGCCGGGCCCCGGCGACC
ACCTTGGGGGTCGCGGGCCGGCTCGGGGGGCGCCCAGTGCGGGCCCTCGCGGGCGCCGGGCAGC
GACCAGCCCTGAGCGGAGCTGTTGGCCGCGGCGGGAGGCCTCCCGGACGCCCCCAGCCCCCCGA
ACGCTCGCCCGGGCCGGCGGGAGTCGGCGCCCCCCGGGAGGTCCGCTCGGTCGTCCGCGGCGGA
GCGTTTGCTCCTGGGACAGGCGGTGGGACCGGGGCGTCGCCGGAGACGCCCCCAGCGAAGTTGG
GCTCTCCAGGTGTGGGGGTCCCGGGGGGTAGCGACGTCGCGGACCCGGCCTGTGGGATGGGCGG
CCCGGAGAAGACTGCGCTCGGCCGTGTTCATACTTGTCCGTGGGCCTGAGGTCCCCGGAGGATG
ACCTAGCACTGAAAAGCCCCGGCCGGCCTCCCCAGGGTCCCCGAGGACGAAGTTGACCCTGACC
GGGCCGTCTCCCAGTTCTGAGGCCCGGGTCCCACTGGAACTCGCGTCTGAGCCGCCGTCCCGGA
CCCCCGGTGCCCGCCGGTCCGCAGACCCTGCACCGGGCTTGGACTCGCAGCCGGGACTGACGTG
TAGAACAATCGTTTCTGTTGGAAGAAGGGTTTTTCCCTTCCTTTTGGGGTTTTTGTTGCCTTTT
TTTTTTCTTTTTTCTTTGTAAAATTTTGGAGAAGGGAAGTCGGAACACAAGGAAGGACCGCTCA
CCCGCGGACTCAGGGCTGGCGGCGGGACTCCAGGACCCTGGGTCCAGCATGGAGGTGGTGGACC
CGCAGCAGCTGGGCATGTTCACGGAGGGCGAGCTGATGTCGGTGGGTATGGACACGTTCATCCA
CCGCATCGACTCCACCGAGGTCATCTACCAGCCGCGCCGCAAGCGGGCCAAGCTCATCGGCAAG
TACCTGATGGGGGACCTGCTGGGGGAAGGCTCTTACGGCAAGGTGAAGGAGGTGCTGGACTCGG
AGACGCTGTGCAGGAGGGCCGTCAAGATCCTCAAGAAGAAGAAGTTGCGAAGGATCCCCAACGG
GGAGGCCAACGTGAAGAAGGAAATTCAACTACTGAGGAGGTTACGGCACAAAAATGTCATCCAG
CTGGTGGATGTGTTATACAACGAAGAGAAGCAGAAAATGTATATGGTGATGGAGTACTGCGTGT
GTGGCATGCAGGAAATGCTGGACAGCGTGCCGGAGAAGCGTTTCCCAGTGTGCCAGGCCCACGG
GTACTTCTGTCAGCTGATTGACGGCCTGGAGTACCTGCATAGCCAGGGCATTGTGCACAAGGAC
ATCAAGCCGGGGAACCTGCTGCTCACCACCGGTGGCACCCTCAAAATCTCCGACCTGGGCGTGG
CCGAGGCACTGCACCCGTTCGCGGCGGACGACACCTGCCGGACCAGCCAGGGCTCCCCGGCTTT
CCAGCCGCCCGAGATTGCCAACGGCCTGGACACCTTCTCCGGCTTCAAGGTGGACATCTGGTCG
GCTGGGGTCACCCTCTACAACATCACCACGGGTCTGTACCCCTTCGAAGGGGACAACATCTACA
AGTTGTTTGAGAACATCGGGAAGGGGAGCTACGCCATCCCGGGCGACTGTGGCCCCCCGCTCTC
TGACCTGCTGAAAGGGATGCTTGAGTACGAACCGGCCAAGAGGTTCTCCATCCGGCAGATCCGG
CAGCACAGCTGGTTCCGGAAGAAACATCCTCCGGCTGAAGCACCAGTGCCCATCCCACCGAGCC
CAGACACCAAGGACCGGTGGCGCAGCATGACTGTGGTGCCGTACTTGGAGGACCTGCACGGCGC
GGACGAGGACGAGGACCTCTTCGACATCGAGGATGACATCATCTACACTCAGGACTTCACGGTG
CCCGGACAGGTCCCAGAAGAGGAGGCCAGTCACAATGGACAGCGCCGGGGCCTCCCCAAGGCCG
TGTGTATGAACGGCACAGAGGCGGCGCAGCTGAGCACCAAATCCAGGGCGGAGGGCCGGGCCCC
CAACCCTGCCCGCAAGGCCTGCTCCGCCAGCAGCAAGATCCGCCGGCTGTCGGCCTGCAAGCAG
CAGTGAGGCTGGCCGCCTGCAGCCCGTGTCCAGGAGCCCCGCCAGGTGCCCGCGCCAGGCCCTC
AGTCTTCCTGCCGGTTCCGCCCGCCCTCCCGGAGAGGTGGCCGCCATGCTTCTGTGCCGACCAC
GCCCCAGGACCTCCGGAGCGCCCTGCAGGGCCGGGCAGGGGGACAGCAGGGACCGGGCGCAGCC
CTCCCCCCTCGGCCGCCCGGCAGTGCACGCGGCTTGTTGACTTCGCAGCCCCGGGCGGAGCCTT
CCCGGGCGGGCGTGGGAGGAGGGAGGCGGCCTCCATGCACTTTATGTGGAGACTACTGGCCCCG
CCCGTGGCCTCGTGCTCCGCAGGGCGCCCAGCGCCGTCCGGCGGCCCCGCCGCAGACCAGCTGG
CGGGTGTGGAGACCAGGCTCCTGACCCCGCCATGCATGCAGCGCCACCTGGAAGCCGCGCGGCC
GCTTTGGTTTTTTGTTTGGTTGGTTCCATTTTCTTTTTTTCTTTTTTTTTTTAAGAAAAAATAA
AAGGTGGATTTGAGCTGTGGCTGTGAGGGGTGTTTGGGAGCTGCTGGGTGGCAGGGGGGCTGTG
GGGTCGGGCTCACGTCGCGGCCGCCTTTGCGCTCTCGGGTCACCCTGCTTTGGCGGCCCGGCCG
GAGGGCAGGACCCTCACCTCTCCCCCAAGGCCACTGCGCTCTTGGGACCCCAGAGAAAACCCGG
AGCAAGCAGGAGTGTGCGGTCAATATTTATATCATCCAGAAAAGAAAAACACGAGAAACGCCAT
CGCGGGATGGTGCAGACGCGGCGGGGACTCGGAGGGTGCCGTGCGGGCGAGGCCGCCCAAATTT
GGCAATAAATAAAGCTTGGGAAGCTTGGA

hide sequence

RefSeq Acc Id:

NM_001407255 ⟹ NP_001394184

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	1,205,778 - 1,223,875 (+)	NCBI
T2T-CHM13v2.0	19	1,174,325 - 1,192,433 (+)	NCBI

RefSeq Acc Id:

NR_176325

RefSeq Status:

REVIEWED

Type:

NON-CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	1,205,778 - 1,228,431 (+)	NCBI
T2T-CHM13v2.0	19	1,174,325 - 1,196,989 (+)	NCBI

Protein Sequences


Protein RefSeqs	NP_000446	(Get FASTA)	NCBI Sequence Viewer
	NP_001394184	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAB05809	(Get FASTA)	NCBI Sequence Viewer
	AAB97833	(Get FASTA)	NCBI Sequence Viewer
	AAC15742	(Get FASTA)	NCBI Sequence Viewer
	AAC39527	(Get FASTA)	NCBI Sequence Viewer
	AAF97257	(Get FASTA)	NCBI Sequence Viewer
	AAG17221	(Get FASTA)	NCBI Sequence Viewer
	AAH07981	(Get FASTA)	NCBI Sequence Viewer
	AAH19334	(Get FASTA)	NCBI Sequence Viewer
	ABR45718	(Get FASTA)	NCBI Sequence Viewer
	ADD71158	(Get FASTA)	NCBI Sequence Viewer
	ALQ33797	(Get FASTA)	NCBI Sequence Viewer
	ALQ33798	(Get FASTA)	NCBI Sequence Viewer
	BAD92790	(Get FASTA)	NCBI Sequence Viewer
	BAG37374	(Get FASTA)	NCBI Sequence Viewer
	CAH59749	(Get FASTA)	NCBI Sequence Viewer
	EAW69538	(Get FASTA)	NCBI Sequence Viewer
	EAW69539	(Get FASTA)	NCBI Sequence Viewer
	EAW69540	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000324856
	ENSP00000324856.6
	ENSP00000466610.1
	ENSP00000467912.2
	ENSP00000477641.2
	ENSP00000490268.1
	ENSP00000490268.2
	ENSP00000498804
	ENSP00000498804.1
GenBank Protein	Q15831	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_000446 ⟸ NM_000455
- Peptide Label:	isoform 1
- UniProtKB:	B2RBX7 (UniProtKB/Swiss-Prot), E7EW76 (UniProtKB/Swiss-Prot), Q15831 (UniProtKB/Swiss-Prot), A0A0S2Z4D1 (UniProtKB/TrEMBL), A6YR18 (UniProtKB/TrEMBL)
- Sequence:	show sequence MEVVDPQQLGMFTEGELMSVGMDTFIHRIDSTEVIYQPRRKRAKLIGKYLMGDLLGEGSYGKVK EVLDSETLCRRAVKILKKKKLRRIPNGEANVKKEIQLLRRLRHKNVIQLVDVLYNEEKQKMYMV MEYCVCGMQEMLDSVPEKRFPVCQAHGYFCQLIDGLEYLHSQGIVHKDIKPGNLLLTTGGTLKI SDLGVAEALHPFAADDTCRTSQGSPAFQPPEIANGLDTFSGFKVDIWSAGVTLYNITTGLYPFE GDNIYKLFENIGKGSYAIPGDCGPPLSDLLKGMLEYEPAKRFSIRQIRQHSWFRKKHPPAEAPV PIPPSPDTKDRWRSMTVVPYLEDLHGADEDEDLFDIEDDIIYTQDFTVPGQVPEEEASHNGQRR GLPKAVCMNGTEAAQLSTKSRAEGRAPNPARKACSASSKIRRLSACKQQ hide sequence

RefSeq Acc Id:

ENSP00000467912 ⟸ ENST00000585851

RefSeq Acc Id:

ENSP00000477641 ⟸ ENST00000585748

RefSeq Acc Id:

ENSP00000490268 ⟸ ENST00000585465

RefSeq Acc Id:

ENSP00000467240 ⟸ ENST00000586243

RefSeq Acc Id:

ENSP00000498804 ⟸ ENST00000652231

RefSeq Acc Id:

ENSP00000324856 ⟸ ENST00000326873

RefSeq Acc Id:

ENSP00000466610 ⟸ ENST00000593219

RefSeq Acc Id:	NP_001394184 ⟸ NM_001407255
- Peptide Label:	isoform 2
- UniProtKB:	Q9HBS3 (UniProtKB/TrEMBL)

Protein Domains

Protein kinase

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q15831-F1-model_v2	AlphaFold	Q15831	1-433	view protein structure

Promoters

RGD ID:

6795432

Promoter ID:

HG_KWN:28371

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell, CD4+TCell_12Hour, Jurkat, K562, Lymphoblastoid, NB4

Transcripts:

ENST00000326873, ENST00000405031, NM_000455

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	19	1,156,401 - 1,158,002 (+)	MPROMDB

RGD ID:

7237793

Promoter ID:

EPDNEW_H24642

Type:

initiation region

Name:

STK11_2

Description:

serine/threonine kinase 11

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Alternative Promoters:

null; see alsoEPDNEW_H24643

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	1,206,444 - 1,206,504	EPDNEW

RGD ID:

7237795

Promoter ID:

EPDNEW_H24643

Type:

initiation region

Name:

STK11_1

Description:

serine/threonine kinase 11

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Alternative Promoters:

null; see alsoEPDNEW_H24642

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	1,206,787 - 1,206,847	EPDNEW

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:11389	AgrOrtholog
COSMIC	STK11	COSMIC
Ensembl Genes	ENSG00000118046	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript	ENST00000326873	ENTREZGENE
	ENST00000326873.12	UniProtKB/Swiss-Prot
	ENST00000585465.2	UniProtKB/TrEMBL
	ENST00000585465.3	UniProtKB/Swiss-Prot
	ENST00000585748.3	UniProtKB/TrEMBL
	ENST00000585851.2	UniProtKB/TrEMBL
	ENST00000593219.5	UniProtKB/TrEMBL
	ENST00000652231	ENTREZGENE
	ENST00000652231.1	UniProtKB/Swiss-Prot
Gene3D-CATH	Transferase(Phosphotransferase) domain 1	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx	ENSG00000118046	GTEx
HGNC ID	HGNC:11389	ENTREZGENE
Human Proteome Map	STK11	Human Proteome Map
InterPro	Kinase-like_dom_sf	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	LKB1_c	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Prot_kinase_dom	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Protein_kinase_ATP_BS	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Ser/Thr_kinase_AS	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:6794	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene	6794	ENTREZGENE
OMIM	602216	OMIM
PANTHER	CALCIUM/CALMODULIN-DEPENDENT PROTEIN KINASE KINASE-RELATED	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	SERINE/THREONINE-PROTEIN KINASE STK11	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	Pkinase	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA36198	PharmGKB
PROSITE	PROTEIN_KINASE_ATP	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	PROTEIN_KINASE_DOM	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	PROTEIN_KINASE_ST	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART	S_TKc	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP	SSF56112	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt	A0A087WT72_HUMAN	UniProtKB/TrEMBL
	A0A0S2Z4C7_HUMAN	UniProtKB/TrEMBL
	A0A0S2Z4D1	ENTREZGENE, UniProtKB/TrEMBL
	A0A1B0GUW2_HUMAN	UniProtKB/TrEMBL
	A6YR18	ENTREZGENE, UniProtKB/TrEMBL
	B2RBX7	ENTREZGENE
	D4P556_HUMAN	UniProtKB/TrEMBL
	E7EW76	ENTREZGENE
	K7EMR0_HUMAN	UniProtKB/TrEMBL
	K7EQN8_HUMAN	UniProtKB/TrEMBL
	Q15831	ENTREZGENE
	Q5ZEZ1_HUMAN	UniProtKB/TrEMBL
	Q9HBS3	ENTREZGENE, UniProtKB/TrEMBL
	Q9NS52_HUMAN	UniProtKB/TrEMBL
	STK11_HUMAN	UniProtKB/Swiss-Prot
UniProt Secondary	B2RBX7	UniProtKB/Swiss-Prot
	E7EW76	UniProtKB/Swiss-Prot

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Disease Annotations - MGI

Imported Disease Annotations - OMIM

RGD Manual Annotations

Imported Annotations - KEGG (archival)

Imported Human Phenotype Annotations - HPO

Imported Human Phenotype Annotations - ClinVar

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Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Disease Annotations - MGI

Imported Disease Annotations - OMIM

RGD Manual Annotations

Imported Annotations - KEGG (archival)

Imported Human Phenotype Annotations - HPO

Imported Human Phenotype Annotations - ClinVar