ClinVar Miner

List of variants reported as uncertain significance for Noonan syndrome 3

Included ClinVar conditions (6):

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; 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
Noonan syndrome 3
Noonan syndrome 3; Autoimmune lymphoproliferative syndrome type 4; Acute myeloid leukemia; Cardiofaciocutaneous syndrome 2
Noonan syndrome 3; Cardiofaciocutaneous syndrome 2
Noonan syndrome 3; Linear nevus sebaceous syndrome; Autoimmune lymphoproliferative syndrome type 4; Acute myeloid leukemia; Cardiofaciocutaneous syndrome 2

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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: 8

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HGVS	dbSNP	gnomAD frequency
NM_007373.4(SHOC2):c.1477C>T (p.Leu493Phe)	rs1026930115	0.00009
NM_033360.4(KRAS):c.389C>T (p.Ala130Val)	rs730880473	0.00002
NM_004985.5(KRAS):c.111+8T>G	rs779370636	0.00001
NM_033360.4(KRAS):c.112-5C>T	rs376520586	0.00001
NM_004985.5(KRAS):c.388_389delinsAT (p.Ala130Ile)	rs1951383854
NM_004985.5(KRAS):c.76A>C (p.Asn26His)	rs794727277
NM_007373.4(SHOC2):c.1159A>G (p.Lys387Glu)	rs1848438761
NM_033360.4(KRAS):c.101_106del	rs1339924833

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