ClinVar for OMIM (Select 113705) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 140755	NM_152617.4(RNF168):c.391C>T (p.Arg131Ter)	RNF168 (R131*)	Single nucleotide variant (nonsense)	not provided	GPathogenic/Likely pathogenic
Select item 128042	NM_007194.4(CHEK2):c.1100del (p.Thr367fs)	CHEK2 (T146fs +4 more)	Deletion (frameshift variant)	Breast and/or ovarian cancer +21 more	GPathogenic
Select item 13128	NM_002875.5(RAD51):c.-98G>C	LOC130056864, RAD51	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 5824	NM_002894.3(RBBP8):c.1009A>G (p.Lys337Glu)	RBBP8 (K337E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3037	NM_000051.4(ATM):c.8671+2_8671+3insTA	ATM, C11orf65	Insertion (intron variant)	Papillary renal cell carcinoma type 1 +1 more	GPathogenic
Select item 1782	NM_000102.4(CYP17A1):c.715C>T (p.Arg239Ter)	CYP17A1, CYP17A1-AS1 (R239*)	Single nucleotide variant (nonsense)	Deficiency of steroid 17-alpha-monooxygenase +1 more	GPathogenic
Select item 822	NM_000038.6(APC):c.3920T>A (p.Ile1307Lys)	APC (I1307K +12 more)	Single nucleotide variant (missense variant)	not provided +7 more	GConflicting classifications of pathogenicity; association; risk factor

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