ClinVar Miner

List of variants reported as likely pathogenic for familial melanoma by Center of Human Genetics, Hôpital Erasme

Included ClinVar conditions (19):

Acute myeloid leukemia; Dyskeratosis congenita, autosomal dominant 2; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1; Melanoma, cutaneous malignant, susceptibility to, 9
Carcinoma of pancreas; Peutz-Jeghers syndrome; Melanoma, cutaneous malignant, susceptibility to, 1; Germ cell tumor of testis
Cardiofaciocutaneous syndrome 1; LEOPARD syndrome 3; Noonan syndrome 7; Melanoma, cutaneous malignant, susceptibility to, 1; Colorectal cancer; Lung cancer
Cardiofaciocutaneous syndrome 1; Noonan syndrome 1; LEOPARD syndrome 3; Noonan syndrome 7; Melanoma, cutaneous malignant, susceptibility to, 1; Colorectal cancer; Lung cancer
Endometrial carcinoma; Macrocephaly-autism syndrome; Familial meningioma; Squamous cell carcinoma of the head and neck; Bannayan-Riley-Ruvalcaba syndrome; Malignant tumor of prostate; Thyroid cancer, nonmedullary, 2; VACTERL with hydrocephalus; Glioma susceptibility 2; Cowden syndrome 1; Melanoma, cutaneous malignant, susceptibility to, 1
Familial cancer of breast; Breast-ovarian cancer, familial, susceptibility to, 2; Fanconi anemia complementation group D1; Medulloblastoma; Wilms tumor 1; Malignant tumor of prostate; Pancreatic cancer, susceptibility to, 2; Glioma susceptibility 3; Melanoma, cutaneous malignant, susceptibility to, 1
Familial melanoma
Glioma susceptibility 1; Melanoma, cutaneous malignant, susceptibility to, 1
Interstitial lung disease 2; Aplastic anemia; Dyskeratosis congenita, autosomal dominant 1; Acute myeloid leukemia; Dyskeratosis congenita, autosomal dominant 2; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1; Melanoma, cutaneous malignant, susceptibility to, 9
Melanoma, cutaneous malignant, susceptibility to, 1
Melanoma, cutaneous malignant, susceptibility to, 2
Melanoma, cutaneous malignant, susceptibility to, 3
Melanoma, cutaneous malignant, susceptibility to, 5
Melanoma, cutaneous malignant, susceptibility to, 6
Melanoma, cutaneous malignant, susceptibility to, 9
Melanoma-pancreatic cancer syndrome; Melanoma, cutaneous malignant, susceptibility to, 2; Melanoma and neural system tumor syndrome
Peutz-Jeghers syndrome; Melanoma, cutaneous malignant, susceptibility to, 1; Familial pancreatic carcinoma; Germ cell tumor of testis
Tumor predisposition syndrome 3
Tyrosinase-positive oculocutaneous albinism; Skin/hair/eye pigmentation, variation in, 2; Increased analgesia from kappa-opioid receptor agonist, female-specific; Melanoma, cutaneous malignant, susceptibility to, 5

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_015450.3(POT1):c.233T>C (p.Ile78Thr)	rs947005337	0.00001
NM_015450.3(POT1):c.349C>T (p.Arg117Cys)	rs780936436
NM_015450.3(POT1):c.818G>A (p.Arg273Gln)	rs587777476

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