ClinVar Miner

List of variants in gene RIT1 reported as likely benign for Noonan syndrome

Included ClinVar conditions (23):

Cardiofaciocutaneous syndrome 1; Lung cancer; Noonan syndrome 1; LEOPARD syndrome 3; Noonan syndrome 7
Familial cancer of breast; Hereditary diffuse gastric cancer; Lung cancer; Noonan syndrome 3; Epidermal nevus syndrome; Cerebral arteriovenous malformation; Bladder cancer, somatic; Carcinoma of pancreas; RAS-associated autoimmune leukoproliferative disorder; Acute myeloid leukemia; Cardiofaciocutaneous syndrome 2
Gingival fibromatosis 1; Noonan syndrome 4
LEOPARD syndrome 1; Noonan syndrome
LEOPARD syndrome 2; Noonan syndrome 5
LEOPARD syndrome 2; Noonan syndrome 5; Cardiomyopathy, dilated, 1NN
Noonan syndrome
Noonan syndrome 1
Noonan syndrome 10
Noonan syndrome 1; Cardiofaciocutaneous syndrome 3
Noonan syndrome 1; Juvenile myelomonocytic leukemia; Metachondromatosis; LEOPARD syndrome 1
Noonan syndrome 1; LEOPARD syndrome 1
Noonan syndrome 2
Noonan syndrome 3
Noonan syndrome 3; Cardiofaciocutaneous syndrome 2
Noonan syndrome 3; Epidermal nevus syndrome; RAS-associated autoimmune leukoproliferative disorder; Acute myeloid leukemia; Cardiofaciocutaneous syndrome 2
Noonan syndrome 4
Noonan syndrome 5
Noonan syndrome 6
Noonan syndrome 7
Noonan syndrome 8
Noonan syndrome 9
Schwannomatosis 2; Noonan syndrome 10

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Gene type:		Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 2

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HGVS	dbSNP
NM_006912.5(RIT1):c.237+10C>A	rs367785615
NM_006912.5(RIT1):c.393T>C (p.Leu131=)	rs34974790

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