C1140680[trait identifier] AND "Institute of Medical Genetics and Appl - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 187280	NM_001048174.2(MUTYH):c.460C>T (p.Arg154Cys)	MUTYH (R182C +8 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 37989	NM_000059.4(BRCA2):c.5682C>G (p.Tyr1894Ter)	BRCA2 (Y1894*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 55427	NM_007294.4(BRCA1):c.5152+5G>A	BRCA1	Single nucleotide variant (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 1 +4 more	GPathogenic/Likely pathogenic
Select item 55015	NM_007294.4(BRCA1):c.3817C>T (p.Gln1273Ter)	BRCA1, LOC126862571 (Q1273* +21 more)	Single nucleotide variant (nonsense +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 37426	NM_007294.4(BRCA1):c.1687C>T (p.Gln563Ter)	BRCA1 (Q563* +20 more)	Single nucleotide variant (nonsense +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 1004354	NM_032043.3(BRIP1):c.2718G>T (p.Glu906Asp)	BRIP1 (E906D)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance

ClinVar