ClinVar for MedGen (Select 76018) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 861467	NM_004656.4(BAP1):c.535C>T (p.Arg179Trp)	BAP1 (R179W)	Single nucleotide variant (missense variant)	BAP1-related tumor predisposition syndrome +1 more	GConflicting classifications of pathogenicity
Select item 233403	NM_000051.4(ATM):c.9019G>T (p.Glu3007Ter)	ATM, C11orf65 (E3007*)	Single nucleotide variant (nonsense +1 more)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 218955	NM_001405607.1(PBRM1):c.4043_4050del (p.Asp1348fs)	PBRM1 (D1344fs +33 more)	Deletion (frameshift variant +1 more)	Clear cell carcinoma of kidney	GPathogenic
Select item 14948	NM_000545.8(HNF1A):c.92G>A (p.Gly31Asp)	HNF1A (G31D)	Single nucleotide variant (missense variant)	Monogenic diabetes	GBenignFDA Recognized database
Select item 14927	NM_000545.8(HNF1A):c.872dup (p.Gly292fs)	HNF1A (G292fs)	Duplication (frameshift variant)	Monogenic diabetes	GPathogenicFDA Recognized database
Select item 7602	NM_002542.6(OGG1):c.137G>A (p.Arg46Gln)	OGG1 (R46Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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