ClinVar for MedGen (Select 865388) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 434539	NM_032043.3(BRIP1):c.1741C>T (p.Arg581Ter)	BRIP1 (R581*)	Single nucleotide variant (nonsense)	BRIP1-related condition +6 more	GPathogenic
Select item 434536	NM_032043.3(BRIP1):c.1141-9A>G	BRIP1	Single nucleotide variant (intron variant)	Familial cancer of breast +4 more	GConflicting classifications of pathogenicity
Select item 241648	NM_032043.3(BRIP1):c.2992_2993del (p.Lys998fs)	BRIP1	Deletion (frameshift variant)	BRIP1-associated familial cancer predisposition +6 more	GPathogenic/Likely pathogenic
Select item 199662	NM_000051.4(ATM):c.8732C>T (p.Thr2911Ile)	ATM, C11orf65 (T2911I)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 4738	NM_032043.3(BRIP1):c.2392C>T (p.Arg798Ter)	BRIP1 (R798*)	Single nucleotide variant (nonsense)	BRIP1-Related Disorders +9 more	GPathogenic/Likely pathogenic
Select item 4737	NM_032043.3(BRIP1):c.897G>A (p.Met299Ile)	BRIP1 (M299I)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group J +2 more	GUncertain significance
Select item 4736	NM_032043.3(BRIP1):c.139C>G (p.Pro47Ala)	BRIP1 (P47A)	Single nucleotide variant (missense variant)	BRIP1-Related Disorders +7 more	GConflicting classifications of pathogenicity

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