"ITMI"[submitter] AND "EGFR"[gene] - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 134032	NM_005228.5(EGFR):c.493C>T (p.Arg165Trp)	EGFR (R165W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 134018	NM_005228.5(EGFR):c.1177G>C (p.Asp393His)	LOC126860048, EGFR (D393H +3 more)	Single nucleotide variant (missense variant)	EGFR-related lung cancer +1 more	GUncertain significance
Select item 134019	NM_005228.5(EGFR):c.1443T>G (p.Phe481Leu)	EGFR (F481L +3 more)	Single nucleotide variant (missense variant)	EGFR-related lung cancer	GUncertain significance
Select item 134020	NM_005228.5(EGFR):c.1534C>T (p.Pro512Ser)	EGFR (P512S +3 more)	Single nucleotide variant (missense variant)	EGFR-related lung cancer	GUncertain significance
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 134022	NM_005228.5(EGFR):c.1570G>A (p.Val524Ile)	EGFR (V524I +3 more)	Single nucleotide variant (missense variant)	EGFR-related lung cancer +3 more	GConflicting classifications of pathogenicity
Select item 134023	NM_005228.5(EGFR):c.1580G>A (p.Arg527Gln)	EGFR (R527Q +3 more)	Single nucleotide variant (missense variant)	EGFR-related lung cancer +1 more	GLikely benign
Select item 134024	NM_005228.5(EGFR):c.1632T>C (p.Gly544=)	EGFR	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 134033	NM_005228.5(EGFR):c.1881-831C>A	EGFR (L640I)	Single nucleotide variant (missense variant +1 more)	not specified	Gnot provided
Select item 134034	NM_005228.5(EGFR):c.1881-641C>T	EGFR (S703F)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 134025	NM_005228.5(EGFR):c.2024G>A (p.Arg675Gln)	EGFR (R675Q +3 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 135516	NM_005228.5(EGFR):c.2061+2T>C	EGFR	Single nucleotide variant (splice donor variant)	EGFR-related lung cancer	GLikely pathogenic
Select item 134026	NM_005228.5(EGFR):c.2224G>A (p.Val742Ile)	EGFR (V742I +3 more)	Single nucleotide variant (missense variant)	Diffuse midline glioma, H3 K27-altered +1 more	GConflicting classifications of pathogenicity
Select item 134027	NM_005228.5(EGFR):c.2885G>A (p.Arg962His)	EGFR (R962H +3 more)	Single nucleotide variant (missense variant)	EGFR-related lung cancer +2 more	GConflicting classifications of pathogenicity
Select item 134029	NM_005228.5(EGFR):c.2963A>C (p.His988Pro)	EGFR (H988P +3 more)	Single nucleotide variant (missense variant)	Lung cancer +3 more	GBenign/Likely benign
Select item 134028	NM_005228.5(EGFR):c.2981_2983delinsGTG (p.Asp994_Ser995delinsGlyAla)	EGFR	Indel (missense variant)	not specified	Gnot provided
Select item 135517	NM_005228.5(EGFR):c.3271+42T>G	EGFR (S1060A +1 more)	Single nucleotide variant (missense variant +1 more)	EGFR-related disorder	GUncertain significance
Select item 135518	NM_005228.5(EGFR):c.3271+81C>T	EGFR (Q1073* +1 more)	Single nucleotide variant (nonsense +1 more)	not specified	Gnot provided
Select item 134030	NM_005228.5(EGFR):c.3467A>C (p.His1156Pro)	EGFR (H1156P +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer +2 more	GConflicting classifications of pathogenicity
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

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Items: 20