ClinVar for MedGen (Select 6728) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 376212	NM_005228.5(EGFR):c.2527G>A (p.Val843Ile)	EGFR (V843I +3 more)	Single nucleotide variant (missense variant)	EGFR-related lung cancer	GUncertain significance
Select item 376211	NM_005228.5(EGFR):c.1636C>T (p.Pro546Ser)	EGFR (P546S +3 more)	Single nucleotide variant (missense variant)	Head and neck neoplasm	GLikely pathogenic
Select item 376081	NM_005228.5(EGFR):c.2257C>T (p.Pro753Ser)	EGFR (P753S +3 more)	Single nucleotide variant (missense variant)	Head and neck neoplasm +1 more	GLikely pathogenic
Select item 375896	NM_006218.4(PIK3CA):c.1633G>C (p.Glu545Gln)	PIK3CA (E545Q)	Single nucleotide variant (missense variant)	Small cell lung carcinoma +26 more	GPathogenic/Likely pathogenic; drug response
Select item 142144	NM_000546.6(TP53):c.916C>T (p.Arg306Ter)	TP53 (R174* +3 more)	Single nucleotide variant (nonsense)	Hereditary breast ovarian cancer syndrome +5 more	GPathogenic OOncogenic
Select item 13273	NM_000141.5(FGFR2):c.758C>G (p.Pro253Arg)	FGFR2 (P253R +3 more)	Single nucleotide variant (missense variant +2 more)	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis +12 more	GPathogenic/Likely pathogenic

ClinVar