ClinVar Miner

List of variants reported as not provided for benign connective and soft tissue neoplasm

Included ClinVar conditions (20):

Acroosteolysis-keloid-like lesions-premature aging syndrome; Basal ganglia calcification, idiopathic, 4; Infantile myofibromatosis; Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
Astrocytoma; Kidney angiomyolipoma; Angiofibromas
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1; Lateral meningocele syndrome; Myofibromatosis, infantile, 2
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1; Lateral meningocele syndrome; Sneddon syndrome; Myofibromatosis, infantile, 2
Child syndrome
Child syndrome; CK syndrome
Craniopharyngioma
Encephalocraniocutaneous lipomatosis
Hypertelorism; Congenital cleft nose; Low-set ears; Tessier cleft; Facial asymmetry; Upper eyelid coloboma; Limbal dermoid; Pericallosal lipoma; Skin tags; Abnormal frontal bone morphology
Hypogonadotropic hypogonadism 2 with or without anosmia; Jackson-Weiss syndrome; Pfeiffer syndrome; Hartsfield-Bixler-Demyer syndrome; Osteoglophonic dysplasia; Trigonocephaly 1; Encephalocraniocutaneous lipomatosis
Infantile myofibromatosis
Multiple symmetric lipomatosis
Multiple symmetric lipomatosis; Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;
Myofibromatosis, infantile, 1
Myofibromatosis, infantile, 1; Acroosteolysis-keloid-like lesions-premature aging syndrome; Basal ganglia calcification, idiopathic, 4; Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
Myofibromatosis, infantile, 1; Hydrocephalus
Myofibromatosis, infantile, 1; Myeloproliferative disorder, chronic, with eosinophilia; Acroosteolysis-keloid-like lesions-premature aging syndrome; Idiopathic basal ganglia calcification 1; Basal ganglia calcification, idiopathic, 4; Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
Myofibromatosis, infantile, 2
Pericallosal lipoma; Skin tags; Midline facial cleft
Preauricular skin tag; Pericallosal lipoma; Skin tags

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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: 15

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HGVS	dbSNP	gnomAD frequency
NM_000435.3(NOTCH3):c.3062A>G (p.Tyr1021Cys)	rs1167405466	0.00001
NM_002609.4(PDGFRB):c.1681C>T (p.Arg561Cys)	rs367543286	0.00001
NM_004985.5(KRAS):c.35G>A (p.Gly12Asp)	rs121913529	0.00001
NM_004985.5(KRAS):c.38G>A (p.Gly13Asp)	rs112445441	0.00001
NM_004985.5(KRAS):c.437C>T (p.Ala146Val)	rs1057519725	0.00001
NM_004985.5(KRAS):c.57G>C (p.Leu19Phe)	rs121913538	0.00001
NM_000435.3(NOTCH3):c.3296G>A (p.Cys1099Tyr)	rs1555727841
NM_000435.3(NOTCH3):c.4556T>C (p.Leu1519Pro)	rs367543285
NM_004985.5(KRAS):c.436G>A (p.Ala146Thr)	rs121913527
NM_015922.3(NSDHL):c.1046A>G (p.Tyr349Cys)	rs137853863
NM_015922.3(NSDHL):c.262C>T (p.Arg88Ter)	rs104894903
NM_015922.3(NSDHL):c.314C>T (p.Ala105Val)	rs104894909
NM_015922.3(NSDHL):c.613G>A (p.Gly205Ser)	rs104894901
NM_023110.3(FGFR1):c.1638C>A (p.Asn546Lys)	rs779707422
NM_023110.3(FGFR1):c.1966A>G (p.Lys656Glu)	rs869320694

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