C0346153[trait identifier] AND "Genomic Medicine Lab, University of Ca - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 12587	NM_004985.5(KRAS):c.458A>T (p.Asp153Val)	KRAS (D153V)	Single nucleotide variant (3 prime UTR variant +1 more)	Noonan syndrome	GPathogenic FDA Recognized database
Select item 51070	NM_000059.4(BRCA2):c.1138del (p.Ser380fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 52603	NM_000059.4(BRCA2):c.8487+3A>G	BRCA2	Single nucleotide variant (intron variant)	Familial cancer of breast +6 more	GPathogenic/Likely pathogenic
Select item 38221	NM_000059.4(BRCA2):c.9235del (p.Val3079fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 17662	NM_007294.4(BRCA1):c.68_69del (p.Glu23fs)	BRCA1 (E23fs)	Microsatellite (frameshift variant +2 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic FDA Recognized database
Select item 187416	NM_032043.3(BRIP1):c.2992_2995del (p.Lys998fs)	BRIP1 (K998fs)	Deletion (frameshift variant)	Hereditary breast ovarian cancer syndrome +5 more	GConflicting classifications of pathogenicity
Select item 182452	NM_007194.4(CHEK2):c.409C>T (p.Arg137Ter)	CHEK2 (R137* +1 more)	Single nucleotide variant (nonsense +1 more)	Familial cancer of breast +8 more	GPathogenic

ClinVar