ClinVar Miner

List of variants reported as likely benign for benign neoplasm of skin by Illumina Laboratory Services, Illumina

Included ClinVar conditions (30):

Achondroplasia; Camptodactyly-tall stature-scoliosis-hearing loss syndrome; Cervical cancer; Crouzon syndrome-acanthosis nigricans syndrome; Levy-Hollister syndrome; Muenke syndrome; Thanatophoric dysplasia type 1; Thanatophoric dysplasia, type 2; Malignant tumor of urinary bladder; Hypochondroplasia; Epidermal nevus; Severe achondroplasia-developmental delay-acanthosis nigricans syndrome; Colorectal cancer; Germ cell tumor of testis
Achondroplasia; Camptodactyly-tall stature-scoliosis-hearing loss syndrome; Cervical cancer; Crouzon syndrome-acanthosis nigricans syndrome; Levy-Hollister syndrome; Muenke syndrome; Thanatophoric dysplasia type 1; Thanatophoric dysplasia, type 2; Malignant tumor of urinary bladder; Hypochondroplasia; Epidermal nevus; Severe achondroplasia-developmental delay-acanthosis nigricans syndrome; Malignant tumor of testis; Carcinoma of colon
Bullous ichthyosiform erythroderma; Epidermal nevus; Ichthyosis; Abnormality of the thyroid gland
CLOVES syndrome
Child syndrome
Child syndrome; CK syndrome
Encephalocraniocutaneous lipomatosis
Epidermal nevus
Epidermolytic acanthoma
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; Megalencephaly-capillary malformation-polymicrogyria syndrome; Congenital macrodactylia; Seborrheic keratosis; Epidermal nevus; Neoplasm of ovary; 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; Neoplasm of ovary; 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; Carcinoma of pancreas; Autoimmune lymphoproliferative syndrome type 4; Acute myeloid leukemia; Cardiofaciocutaneous syndrome 2; Gastric cancer; Lung cancer
Hypogonadotropic hypogonadism 2 with or without anosmia; Jackson-Weiss syndrome; Pfeiffer syndrome; Hartsfield-Bixler-Demyer syndrome; Osteoglophonic dysplasia; Trigonocephaly 1; Encephalocraniocutaneous lipomatosis
Large congenital melanocytic nevus
Large congenital melanocytic nevus; Linear nevus sebaceous syndrome; Malignant tumor of urinary bladder; Costello syndrome; Epidermal nevus; Thyroid cancer, nonmedullary, 2
Large congenital melanocytic nevus; Neurocutaneous melanocytosis; Linear nevus sebaceous syndrome; Epidermal nevus; Thyroid cancer, nonmedullary, 2; Noonan syndrome 6; Autoimmune lymphoproliferative syndrome type 4; Colorectal cancer
Large congenital melanocytic nevus; Obesity; Atypical behavior; Scoliosis; Abnormal facial shape; Hyperpigmentation of the skin; Neonatal hypotonia; Hypoplastic toenails; Short toe; Long foot; Poor suck; Increased intracranial pressure; Accelerated skeletal maturation
Linear nevus sebaceous syndrome
Linear nevus sebaceous syndrome; Costello syndrome
Neurocutaneous melanocytosis
Nevus comedonicus syndrome
Noonan syndrome 3; Linear nevus sebaceous syndrome; Autoimmune lymphoproliferative syndrome type 4; Acute myeloid leukemia; Cardiofaciocutaneous syndrome 2
Skin hemangioma
Tufted angioma of skin
Uterine leiomyoma; Cutaneous leiomyoma
Verrucous hemangioma
White sponge nevus 1
White sponge nevus 2
Wooly hair nevus

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)
		ClinVar version:

Total variants: 20

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HGVS	dbSNP	gnomAD frequency
NM_002272.4(KRT4):c.205C>T (p.Arg69Ter)	rs200860840	0.00183
NM_153490.3(KRT13):c.-45C>A	rs367712050	0.00029
NM_153490.3(KRT13):c.1238A>T (p.Asp413Val)	rs200269035	0.00010
NM_002272.4(KRT4):c.1386G>A (p.Val462=)	rs373947229	0.00009
NM_002272.4(KRT4):c.1192C>T (p.His398Tyr)	rs374654554	0.00006
NM_002272.4(KRT4):c.359C>A (p.Thr120Asn)	rs201805600	0.00006
NM_002272.4(KRT4):c.466C>T (p.Gln156Ter)	rs535497819	0.00005
NM_002272.4(KRT4):c.1204G>A (p.Val402Ile)	rs772882487	0.00004
NM_002272.4(KRT4):c.954T>C (p.Ile318=)	rs770727989	0.00004
NM_002272.4(KRT4):c.513G>A (p.Leu171=)	rs774677002	0.00003
NM_002272.4(KRT4):c.527C>T (p.Thr176Met)	rs370759790	0.00003
NM_002272.4(KRT4):c.945C>T (p.Tyr315=)	rs778125368	0.00003
NM_153490.3(KRT13):c.291C>T (p.Gly97=)	rs747752896	0.00003
NM_002272.4(KRT4):c.1147G>A (p.Val383Met)	rs751984023	0.00002
NM_002272.4(KRT4):c.-54A>T	rs369760401	0.00001
NM_153490.3(KRT13):c.844G>A (p.Glu282Lys)	rs202057977	0.00001
NM_153490.3(KRT13):c.9C>T (p.Leu3=)	rs185787290	0.00001
NM_002272.4(KRT4):c.1346+15A>T	rs931479
NM_002272.4(KRT4):c.801C>T (p.Asp267=)	rs369207280
NM_153490.3(KRT13):c.610G>A (p.Val204Met)	rs138102206

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