ClinVar Miner

List of variants in gene FLCN reported as likely pathogenic for renal carcinoma

Included ClinVar conditions (38):

ADRENOCORTICAL CARCINOMA, PEDIATRIC
Adenoid cystic carcinoma
Adrenal cortex carcinoma
Adrenocortical carcinoma, hereditary
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
Adrenocortical carcinoma, hereditary; Glioma susceptibility 1; Li-Fraumeni syndrome 1; Choroid plexus papilloma; Basal cell carcinoma, susceptibility to, 7; Colorectal cancer; Bone marrow failure syndrome 5
Aniridia 1; Foveal hypoplasia 1; Coloboma of optic nerve; Autosomal dominant keratitis; Isolated optic nerve hypoplasia; Irido-corneo-trabecular dysgenesis; 11p partial monosomy syndrome; Coloboma, ocular, autosomal dominant
Aniridia 1; Foveal hypoplasia 1; Coloboma of optic nerve; Autosomal dominant keratitis; Isolated optic nerve hypoplasia; Irido-corneo-trabecular dysgenesis; 11p partial monosomy syndrome; Congenital ocular coloboma
Aniridia 1; Foveal hypoplasia 1; Coloboma of optic nerve; Autosomal dominant keratitis; Isolated optic nerve hypoplasia; Irido-corneo-trabecular dysgenesis; Coloboma, ocular, autosomal dominant
Aniridia 1; Foveal hypoplasia 1; Isolated optic nerve hypoplasia; Irido-corneo-trabecular dysgenesis; 11p partial monosomy syndrome; Coloboma, ocular, autosomal dominant
Aniridia 2
Aniridia 3
Birt-Hogg-Dube syndrome; Familial spontaneous pneumothorax; Potocki-Lupski syndrome; Carcinoma of colon; Nonpapillary renal cell carcinoma
Birt-Hogg-Dube syndrome; Familial spontaneous pneumothorax; Potocki-Lupski syndrome; Nonpapillary renal cell carcinoma; Colorectal cancer
Childhood kidney cell carcinoma; High-grade astrocytoma with piloid features
Chromophobe renal cell carcinoma
Chuvash polycythemia; Pheochromocytoma; Von Hippel-Lindau syndrome; Nonpapillary renal cell carcinoma
Clear cell carcinoma of kidney
Diabetes mellitus type 1; Type 1 diabetes mellitus 20; Maturity-onset diabetes of the young type 3; Type 2 diabetes mellitus; Hepatic adenomas, familial; Nonpapillary renal cell carcinoma
Familial spontaneous pneumothorax; Nonpapillary renal cell carcinoma; Colorectal cancer; Birt-Hogg-Dube syndrome 1
Foveal hypoplasia 1
Foveal hypoplasia 1; Irido-corneo-trabecular dysgenesis
Gastrointestinal carcinoma; Adrenal cortex carcinoma
Hereditary papillary renal cell carcinoma
Hereditary renal cell carcinoma
Isolated optic nerve hypoplasia
Nonpapillary renal cell carcinoma
Optic nerve hypoplasia
Osteofibrous dysplasia; Papillary renal cell carcinoma type 1; Hepatocellular carcinoma; Autosomal recessive nonsyndromic hearing loss 97
Osteofibrous dysplasia; Papillary renal cell carcinoma type 1; Hepatocellular carcinoma; Autosomal recessive nonsyndromic hearing loss 97; Arthrogryposis, distal, IIa 11
PAX6-related ocular dysgenesis
Papillary renal cell carcinoma type 1
Renal cell carcinoma
Renal cell carcinoma, Xp11-associated
Renal cysts and diabetes syndrome; Type 2 diabetes mellitus; Nonpapillary renal cell carcinoma
Von Hippel-Lindau syndrome; Cerebellar hemangioblastoma; Papillary renal cell carcinoma type 1; Skin adenoma

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_144997.7(FLCN):c.779+1G>T	rs758175953	0.00001
NM_144997.7(FLCN):c.1357_1363del (p.Gly453fs)	rs1131690841
NM_144997.7(FLCN):c.1432+1G>A	rs755959303
NM_144997.7(FLCN):c.1657T>C (p.Trp553Arg)	rs1131690833
NM_144997.7(FLCN):c.189del (p.Ala64fs)	rs876660611
NM_144997.7(FLCN):c.44dup (p.Arg17fs)	rs1131690839
NM_144997.7(FLCN):c.871+2T>C
NM_144997.7(FLCN):c.970C>T (p.Gln324Ter)	rs2144896021

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