ClinVar Miner

List of variants reported as likely pathogenic for melanocytic nevus

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
Achondroplasia; Camptodactyly-tall stature-scoliosis-hearing loss syndrome; Cervical cancer; Crouzon syndrome-acanthosis nigricans 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; LADD syndrome 1
Achondroplasia; Camptodactyly-tall stature-scoliosis-hearing loss syndrome; Cervical cancer; Crouzon syndrome-acanthosis nigricans 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; Lacrimoauriculodentodigital syndrome 2
Becker nevus syndrome; Baraitser-Winter syndrome 1; Developmental malformations-deafness-dystonia syndrome; Congenital smooth muscle hamartoma, with or without hemihypertrophy; ACTB-associated syndromic thrombocytopenia
CLOVES syndrome
Child syndrome
Child syndrome; CK syndrome
Epidermal nevus
Epidermolytic ichthyosis; Epidermal nevus; Ichthyosis; Abnormality of the thyroid gland
Familial cancer of breast; Hemifacial myohyperplasia; Megalencephaly-capillary malformation-polymicrogyria syndrome; Congenital macrodactylia; Seborrheic keratosis; Epidermal nevus; CLAPO syndrome; CLOVES syndrome; Ovarian cancer; Cerebral cavernous malformation 4; Cowden syndrome 5; Hepatocellular carcinoma; Gastric cancer; Colorectal cancer; 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; 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
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
Pulmonic stenosis; Isolated Pierre-Robin syndrome; Tapered finger; Tricuspid regurgitation; Abnormal facial shape; Overlapping toe; Ovarian cyst; Calcaneovalgus deformity; Abnormal muscle tone; Short metatarsal; Left-to-right shunt; Short palpebral fissure; Blue nevus; Cleft palate; Patent ductus arteriosus
Thumb deformity; Atrial septal defect; Small thenar eminence; Clubbing of fingers; Blue nevus; Abnormal radial ray morphology
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: 23

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HGVS	dbSNP	gnomAD frequency
NM_000094.4(COL7A1):c.1442G>A (p.Arg481His)	rs147040026	0.00002
NM_005343.4(HRAS):c.181C>A (p.Gln61Lys)	rs28933406
NM_005343.4(HRAS):c.182A>G (p.Gln61Arg)	rs121913233
NM_005343.4(HRAS):c.37G>T (p.Gly13Cys)	rs104894228
NM_005343.4(HRAS):c.38G>A (p.Gly13Asp)	rs104894226
NM_005343.4(HRAS):c.38G>T (p.Gly13Val)	rs104894226
NM_006218.4(PIK3CA):c.1252G>A (p.Glu418Lys)	rs397517199
NM_006218.4(PIK3CA):c.1624G>A (p.Glu542Lys)	rs121913273
NM_006218.4(PIK3CA):c.1633G>A (p.Glu545Lys)	rs104886003
NM_006218.4(PIK3CA):c.263G>A (p.Arg88Gln)	rs121913287
NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg)	rs121913279
NM_006218.4(PIK3CA):c.325GAA[1] (p.Glu110del)	rs1724343994
NM_006218.4(PIK3CA):c.813+2T>C
NM_015922.3(NSDHL):c.1114del (p.Val372fs)	rs587784222
NM_015922.3(NSDHL):c.317C>T (p.Ser106Leu)	rs1602937895
NM_015922.3(NSDHL):c.387del (p.Ile129fs)
NM_015922.3(NSDHL):c.595C>T (p.Arg199Cys)	rs587784223
NM_015922.3(NSDHL):c.727G>A (p.Val243Met)	rs587784224
NM_033360.4(KRAS):c.64C>A (p.Gln22Lys)	rs121913236
NM_181486.4(TBX5):c.253C>A (p.Pro85Thr)	rs1565941579
NM_181523.3(PIK3R1):c.1699A>G (p.Lys567Glu)	rs1747645807
NM_181523.3(PIK3R1):c.1732_1738delinsTGTAAGAAAG (p.Asp578_Tyr580delinsCysLysLysAsp)	rs2112277098
NM_181523.3(PIK3R1):c.1735_1740del (p.Gln579_Tyr580del)	rs751582616

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