ClinVar Miner

List of variants studied for respiratory system cancer by Molekularpathologisches Zentrum, Universitaetsklinikum Heidelberg

Included ClinVar conditions (36):

Adrenocortical carcinoma, hereditary; Familial cancer of breast; Glioma susceptibility 1; Bone osteosarcoma; Li-Fraumeni syndrome 1; Nasopharyngeal carcinoma; Carcinoma of pancreas; Choroid plexus papilloma; Basal cell carcinoma, susceptibility to, 7; Hepatocellular carcinoma; Colorectal cancer; Bone marrow failure syndrome 5
Adrenocortical carcinoma, hereditary; Familial cancer of breast; Glioma susceptibility 1; Bone osteosarcoma; Li-Fraumeni syndrome 1; Nasopharyngeal carcinoma; Carcinoma of pancreas; Choroid plexus papilloma; Carcinoma of colon; Basal cell carcinoma, susceptibility to, 7; Hepatocellular carcinoma
Adrenocortical carcinoma, hereditary; Familial cancer of breast; Glioma susceptibility 1; Bone osteosarcoma; Li-Fraumeni syndrome 1; Nasopharyngeal carcinoma; Choroid plexus papilloma; Basal cell carcinoma, susceptibility to, 7; Familial pancreatic carcinoma; Hepatocellular carcinoma; Colorectal cancer; Bone marrow failure syndrome 5
Autoimmune lymphoproliferative syndrome type 1; Lung cancer
Autosomal recessive juvenile Parkinson disease 2; Ovarian neoplasm; Lung cancer
Bone osteosarcoma; Malignant tumor of urinary bladder; Small cell lung carcinoma; Retinoblastoma
Cardiofaciocutaneous syndrome 1; LEOPARD syndrome 3; Noonan syndrome 7; Melanoma, cutaneous malignant, susceptibility to, 1; Colorectal cancer; Lung cancer
Cardiofaciocutaneous syndrome 1; Lung carcinoma; Noonan syndrome 1; LEOPARD syndrome 3; Noonan syndrome 7
Cardiofaciocutaneous syndrome 1; Noonan syndrome 1; LEOPARD syndrome 3; Noonan syndrome 7; Melanoma, cutaneous malignant, susceptibility to, 1; Colorectal cancer; Lung cancer
DE SANCTIS-CACCHIONE SYNDROME; Cerebrooculofacioskeletal syndrome 1; Cockayne syndrome type 2; Lung carcinoma; UV-sensitive syndrome 1; Age related macular degeneration 5; Premature ovarian failure 11
DE SANCTIS-CACCHIONE SYNDROME; Cerebrooculofacioskeletal syndrome 1; Cockayne syndrome type 2; UV-sensitive syndrome 1; Age related macular degeneration 5; Premature ovarian failure 11; Lung cancer
Euthyroid goiter; Pleuropulmonary blastoma
Euthyroid goiter; Rhabdomyosarcoma, embryonal, 2; Pleuropulmonary blastoma; Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome
Familial cancer of breast; Autoimmune lymphoproliferative syndrome type 2B; Hepatocellular carcinoma; Lung cancer
Familial cancer of breast; Hereditary diffuse gastric adenocarcinoma; Lung carcinoma; Noonan syndrome 3; Linear nevus sebaceous syndrome; Cerebral arteriovenous malformation; Malignant tumor of urinary bladder; Carcinoma of pancreas; Autoimmune lymphoproliferative syndrome type 4; Acute myeloid leukemia; Cardiofaciocutaneous syndrome 2
Familial cancer of breast; Lung carcinoma; Malignant tumor of prostate; Carcinoma of colon
Familial cancer of breast; Megalencephaly-capillary malformation-polymicrogyria syndrome; Congenital macrodactylia; Seborrheic keratosis; Epidermal nevus; Ovarian neoplasm; CLAPO syndrome; CLOVES syndrome; Cowden syndrome 5; Hepatocellular carcinoma; Gastric cancer; Colorectal cancer; Lung cancer
Familial cancer of breast; Megalencephaly-capillary malformation-polymicrogyria syndrome; Lung carcinoma; Congenital macrodactylia; Seborrheic keratosis; Epidermal nevus; Ovarian neoplasm; CLAPO syndrome; CLOVES syndrome; Carcinoma of colon; Neoplasm of stomach; Cowden syndrome 5; Hepatocellular carcinoma
Familial cancer of breast; Noonan syndrome 3; Linear nevus sebaceous syndrome; Toriello-Lacassie-Droste syndrome; Cerebral arteriovenous malformation; Malignant tumor of urinary bladder; Autoimmune lymphoproliferative syndrome type 4; Acute myeloid leukemia; Cardiofaciocutaneous syndrome 2; Familial pancreatic carcinoma; Gastric cancer; Lung cancer
Familial cancer of breast; Noonan syndrome 3; Linear nevus sebaceous syndrome; Toriello-Lacassie-Droste syndrome; Cerebral arteriovenous malformation; Malignant tumor of urinary bladder; Carcinoma of pancreas; Autoimmune lymphoproliferative syndrome type 4; Acute myeloid leukemia; Cardiofaciocutaneous syndrome 2; Gastric cancer; Lung cancer
Familial cancer of breast; Ovarian neoplasm; Lung cancer
Inflammatory skin and bowel disease, neonatal, 2; Lung cancer
Laryngeal squamous cell carcinoma
Leprosy, susceptibility to, 2; Lung carcinoma; Autosomal recessive juvenile Parkinson disease 2; Ovarian neoplasm
Lung adenocarcinoma
Lung cancer
Lung carcinoma
Lung sarcomatoid carcinoma
Nasopharyngeal carcinoma
Nasopharyngeal carcinoma, susceptibility to, 3
Non-small cell lung carcinoma
Non-small cell lung carcinoma; Neoplasm of the large intestine
Pleuropulmonary blastoma
Rhabdomyosarcoma, embryonal, 2; Pleuropulmonary blastoma
Small cell lung carcinoma
Squamous cell lung carcinoma

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 9

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_024675.4(PALB2):c.79G>T (p.Glu27Ter)	rs878855122	0.00002
NM_004304.5(ALK):c.3607G>A (p.Asp1203Asn)	rs759845895	0.00001
NM_000249.4(MLH1):c.109G>C (p.Glu37Gln)	rs63751012
NM_003482.4(KMT2D):c.1940del (p.Pro647fs)	rs770315135
NM_003482.4(KMT2D):c.4379dup (p.Leu1461fs)	rs1240601136
NM_004304.5(ALK):c.3538G>C (p.Val1180Leu)
NM_004304.5(ALK):c.3586C>A (p.Leu1196Met)	rs1057519784
NM_004304.5(ALK):c.3604G>A (p.Gly1202Arg)	rs1057519783
NM_006164.5(NFE2L2):c.246A>T (p.Glu82Asp)	rs2105458487

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