"Ambry Genetics"[submitter] AND "EGF"[gene] - ClinVar

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Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2396712	NM_001963.6(EGF):c.505G>A (p.Glu169Lys)	EGF (E169K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1977307	NM_001963.6(EGF):c.562G>A (p.Asp188Asn)	EGF (D188N)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2264717	NM_001963.6(EGF):c.574G>A (p.Val192Met)	EGF (V192M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228415	NM_001963.6(EGF):c.655T>C (p.Tyr219His)	EGF (Y219H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509614	NM_001963.6(EGF):c.927C>A (p.Asp309Glu)	EGF (D309E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303061	NM_001963.6(EGF):c.1014G>C (p.Leu338Phe)	EGF (L338F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2262474	NM_001963.6(EGF):c.1106T>C (p.Leu369Pro)	EGF (L327P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274724	NM_001963.6(EGF):c.1109G>T (p.Gly370Val)	EGF (G370V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274726	NM_001963.6(EGF):c.1180C>G (p.Arg394Gly)	EGF (R352G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249741	NM_001963.6(EGF):c.1253G>T (p.Gly418Val)	EGF (G376V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087615	NM_001963.6(EGF):c.1327G>A (p.Asp443Asn)	EGF (D401N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524364	NM_001963.6(EGF):c.1360C>G (p.Leu454Val)	EGF (L412V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2073505	NM_001963.6(EGF):c.1369G>A (p.Val457Ile)	EGF (V415I +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 901702	NM_001963.6(EGF):c.1416T>A (p.Asp472Glu)	EGF (D430E +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2076013	NM_001963.6(EGF):c.1484A>G (p.His495Arg)	EGF (H453R +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2267758	NM_001963.6(EGF):c.1644G>T (p.Arg548Ser)	EGF (R548S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 903650	NM_001963.6(EGF):c.1684G>C (p.Val562Leu)	EGF (V562L +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 1493277	NM_001963.6(EGF):c.1791C>G (p.Ile597Met)	EGF (I597M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2228858	NM_001963.6(EGF):c.1858A>C (p.Asn620His)	EGF (N578H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243016	NM_001963.6(EGF):c.1903G>T (p.Val635Phe)	EGF (V593F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555139	NM_001963.6(EGF):c.2018G>A (p.Gly673Asp)	EGF (G631D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233343	NM_001963.6(EGF):c.2218C>G (p.Pro740Ala)	EGF, LOC126807134 (P698A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388224	NM_001963.6(EGF):c.2239T>C (p.Tyr747His)	EGF, LOC126807134 (Y747H +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3274725	NM_001963.6(EGF):c.2248G>A (p.Gly750Arg)	EGF, LOC126807134 (G708R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087616	NM_001963.6(EGF):c.2327A>G (p.Asp776Gly)	EGF, LOC126807134 (D734G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1410240	NM_001963.6(EGF):c.2378A>T (p.Glu793Val)	EGF (E751V +1 more)	Single nucleotide variant (missense variant)	Renal hypomagnesemia 4 +2 more	GUncertain significance
Select item 2414569	NM_001963.6(EGF):c.2584G>A (p.Ala862Thr)	EGF (A820T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3087617	NM_001963.6(EGF):c.2594G>C (p.Gly865Ala)	EGF (G823A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3087618	NM_001963.6(EGF):c.2629G>A (p.Gly877Ser)	EGF (G835S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2619343	NM_001963.6(EGF):c.2723T>C (p.Ile908Thr)	EGF (I866T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2247782	NM_001963.6(EGF):c.2768G>T (p.Cys923Phe)	EGF (C881F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2249903	NM_001963.6(EGF):c.2843G>T (p.Gly948Val)	EGF (G948V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2612952	NM_001963.6(EGF):c.2973G>A (p.Met991Ile)	EGF (M868I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087619	NM_001963.6(EGF):c.3004A>G (p.Asn1002Asp)	EGF (N961D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211295	NM_001963.6(EGF):c.3361G>T (p.Ala1121Ser)	EGF (A1080S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1470686	NM_001963.6(EGF):c.3481A>G (p.Met1161Val)	EGF (M1119V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2618384	NM_001963.6(EGF):c.3532G>T (p.Gly1178Cys)	EGF (G1136C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2469627	NM_001963.6(EGF):c.3553C>G (p.Leu1185Val)	EGF (L1185V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Items: 38