ClinVar for MedGen (Select 863567) - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3338124	EGFR, ILE365ASN	EGFR	Variation	Inflammatory skin and bowel disease, neonatal, 2	GPathogenic
Select item 3338123	EGFR, ARG98TER	EGFR	Variation	Inflammatory skin and bowel disease, neonatal, 2	GPathogenic
Select item 3236362	NM_005228.5(EGFR):c.976T>A (p.Cys326Ser)	EGFR (C273S +3 more)	Single nucleotide variant (missense variant)	Inflammatory skin and bowel disease, neonatal, 2	GUncertain significance
Select item 1481031	NM_005228.5(EGFR):c.676A>C (p.Lys226Gln)	EGFR (K173Q +2 more)	Single nucleotide variant (missense variant +1 more)	EGFR-related lung cancer +2 more	GUncertain significance
Select item 1255377	NM_005228.5(EGFR):c.1498+22A>T	EGFR	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1166017	NM_005228.5(EGFR):c.2709T>C (p.Thr903=)	EGFR	Single nucleotide variant (synonymous variant)	Inflammatory skin and bowel disease, neonatal, 2 +2 more	GBenign
Select item 997522	NM_005228.5(EGFR):c.1690C>T (p.Pro564Ser)	EGFR (P297S +3 more)	Single nucleotide variant (missense variant)	Inflammatory skin and bowel disease, neonatal, 2 +2 more	GUncertain significance
Select item 259680	NM_005228.5(EGFR):c.474C>T (p.Asn158=)	EGFR	Single nucleotide variant (synonymous variant +1 more)	Inflammatory skin and bowel disease, neonatal, 2 +4 more	GBenign
Select item 259677	NM_005228.5(EGFR):c.1887T>A (p.Thr629=)	EGFR	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign
Select item 157499	NM_005228.5(EGFR):c.1283G>A (p.Gly428Asp)	EGFR (G428D +3 more)	Single nucleotide variant (missense variant)	EGFR-related lung cancer	GPathogenic
Select item 134031	NM_005228.5(EGFR):c.3485G>A (p.Ser1162Asn)	EGFR (S1162N +3 more)	Single nucleotide variant (missense variant)	Inflammatory skin and bowel disease, neonatal, 2 +2 more	GBenign/Likely benign
Select item 134021	NM_005228.5(EGFR):c.1562G>A (p.Arg521Lys)	EGFR (R521K +3 more)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign
Select item 45271	NM_005228.5(EGFR):c.2361G>A (p.Gln787=)	EGFR, EGFR-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary cancer-predisposing syndrome +6 more	GBenign
Select item 16613	NM_005228.5(EGFR):c.2369C>T (p.Thr790Met)	EGFR, EGFR-AS1 (T790M +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	erlotinib response - Efficacy +2 more	Gdrug response OOncogenic