ClinVar for MedGen (Select 2377) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 574001	NM_007294.4(BRCA1):c.2885A>G (p.Glu962Gly)	BRCA1 (E962G +20 more)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 91366	NM_000535.7(PMS2):c.736_741delinsTGTGTGTGAAG (p.Pro246_Pro247delinsCysValTer)	PMS2	Indel (nonsense +2 more)	Lynch syndrome	GPathogenic
Select item 12577	NM_002467.6(MYC):c.220C>G (p.Pro74Ala)	MYC (P74A +1 more)	Single nucleotide variant (missense variant)	Cholesteatoma of middle ear +1 more	Gother OLikely oncogenic
Select item 12576	NM_002467.6(MYC):c.162G>C (p.Glu54Asp)	MYC (E54D +1 more)	Single nucleotide variant (missense variant)	Burkitt lymphoma	GPathogenic
Select item 12575	NM_002467.6(MYC):c.302A>C (p.Asn101Thr)	MYC (N101T +1 more)	Single nucleotide variant (missense variant)	Neoplasm +1 more	GPathogenic/Likely pathogenic
Select item 12574	NM_002467.6(MYC):c.214C>T (p.Pro72Ser)	MYC (P72S +1 more)	Single nucleotide variant (missense variant)	Burkitt lymphoma	GPathogenic

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