ClinVar for Gene (Select 1950) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 3246726	NC_000004.11:g.(?_110925641)_(110925798_?)del	EGF	Deletion	not provided	GUncertain significance
Select item 3246704	NC_000004.11:g.(?_110481494)_(111554154_?)dup	CASP6, CFI +9 more	Duplication	not provided	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 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 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 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 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 3065614	NM_001963.6(EGF):c.1189+1G>A	EGF	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 3062767	GRCh37/hg19 4q24-35.2(chr4:101203509-190957473)x3	AADAT, ABCE1 +286 more	Copy number gain	not specified	GPathogenic
Select item 3033236	NM_001963.6(EGF):c.1258T>C (p.Leu420=)	EGF	Single nucleotide variant (synonymous variant)	EGF-related disorder	GLikely benign
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	HPGDS, SCRG1 +537 more	Copy number gain	not provided	GPathogenic
Select item 3021562	NM_001963.6(EGF):c.2476G>A (p.Glu826Lys)	EGF (E784K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3019425	NM_001963.6(EGF):c.2336C>T (p.Thr779Met)	LOC126807134, EGF (T737M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3015360	NM_001963.6(EGF):c.3171C>T (p.Tyr1057=)	EGF	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3014987	NM_001963.6(EGF):c.2469A>G (p.Leu823=)	EGF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3013450	NM_001963.6(EGF):c.1121C>T (p.Thr374Ile)	EGF (T374I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3013207	NM_001963.6(EGF):c.838A>G (p.Met280Val)	EGF (M280V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3008212	NM_001963.6(EGF):c.1190-17del	EGF	Deletion (intron variant)	not provided	GLikely benign
Select item 3008136	NM_001963.6(EGF):c.6G>A (p.Leu2=)	EGF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3007173	NM_001963.6(EGF):c.2533C>T (p.Arg845Trp)	EGF (R803W +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3000131	NM_001963.6(EGF):c.3073G>A (p.Ala1025Thr)	EGF (A983T +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2998685	NM_001963.6(EGF):c.288A>G (p.Gln96=)	EGF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2993345	NM_001963.6(EGF):c.1364G>C (p.Ser455Thr)	EGF (S413T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2992046	NM_001963.6(EGF):c.1829+18T>A	EGF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2990907	NM_001963.6(EGF):c.2491+12T>C	EGF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2984586	NM_001963.6(EGF):c.773G>A (p.Arg258His)	EGF (R258H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2982686	NM_001963.6(EGF):c.3068G>A (p.Arg1023His)	EGF (R981H +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2980278	NM_001963.6(EGF):c.639G>A (p.Arg213=)	EGF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2978674	NM_001963.6(EGF):c.1829+5G>T	EGF	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2976284	NM_001963.6(EGF):c.3528A>C (p.Glu1176Asp)	EGF (E1134D +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2973973	NM_001963.6(EGF):c.316T>C (p.Ser106Pro)	EGF (S106P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2967962	NM_001963.6(EGF):c.1763G>A (p.Arg588His)	EGF (R588H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2965125	NM_001963.6(EGF):c.3341T>C (p.Val1114Ala)	EGF (V1072A +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2965046	NM_001963.6(EGF):c.3025G>A (p.Gly1009Arg)	EGF (G967R +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2964989	NM_001963.6(EGF):c.127+13A>G	EGF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2964027	NM_001963.6(EGF):c.453C>T (p.His151=)	EGF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2962319	NM_001963.6(EGF):c.341T>G (p.Ile114Arg)	EGF (I114R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2909536	NM_001963.6(EGF):c.2608+5G>A	EGF	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2907749	NM_001963.6(EGF):c.3005+8A>C	EGF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2901812	NM_001963.6(EGF):c.3550T>C (p.Ser1184Pro)	EGF (S1143P +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2901253	NM_001963.6(EGF):c.1326C>T (p.Pro442=)	EGF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2900797	NM_001963.6(EGF):c.3313C>G (p.Gln1105Glu)	EGF (Q1063E +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2895354	NM_001963.6(EGF):c.2759_2760delinsTA (p.Glu920Val)	EGF (E920V +2 more)	Indel (missense variant +1 more)	not provided	GUncertain significance
Select item 2891044	NM_001963.6(EGF):c.3537C>T (p.Val1179=)	EGF	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2885154	NM_001963.6(EGF):c.837C>T (p.Asp279=)	EGF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2868658	NM_001963.6(EGF):c.1136A>T (p.Tyr379Phe)	EGF (Y379F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2868192	NM_001963.6(EGF):c.3475C>A (p.Gln1159Lys)	EGF (Q1118K +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2863184	NM_001963.6(EGF):c.3371-13G>T	EGF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2851409	NM_001963.6(EGF):c.1231G>C (p.Asp411His)	EGF (D369H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2849122	NM_001963.6(EGF):c.2068G>A (p.Val690Ile)	EGF, LOC126807134 (V648I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2840588	NM_001963.6(EGF):c.2806T>C (p.Tyr936His)	EGF (Y813H +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2834908	NM_001963.6(EGF):c.2152A>T (p.Arg718Ter)	EGF, LOC126807134 (R676* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2831582	NM_001963.6(EGF):c.2222-15T>C	LOC126807134, EGF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2831321	NM_001963.6(EGF):c.1836A>G (p.Leu612=)	EGF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2819720	NM_001963.6(EGF):c.2373T>A (p.Gly791=)	EGF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2817410	NM_001963.6(EGF):c.1917T>C (p.Ser639=)	EGF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2807653	NM_001963.6(EGF):c.1398G>A (p.Gly466=)	EGF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2807460	NM_001963.6(EGF):c.2053+6G>T	EGF	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2804214	NM_001963.6(EGF):c.958T>C (p.Leu320=)	EGF	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2803962	NM_001963.6(EGF):c.3173+15C>G	EGF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2801674	NM_001963.6(EGF):c.3371-8T>C	EGF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2799830	NM_001963.6(EGF):c.672C>T (p.Ser224=)	EGF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2798698	NM_001963.6(EGF):c.328-14A>G	EGF	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2792354	NM_001963.6(EGF):c.3159G>A (p.Gly1053=)	EGF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2788738	NM_001963.6(EGF):c.1313-3T>C	EGF	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2785439	NM_001963.6(EGF):c.761T>C (p.Leu254Pro)	EGF (L254P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2783032	NM_001963.6(EGF):c.3233T>G (p.Val1078Gly)	EGF (V1036G +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2772550	NM_001963.6(EGF):c.-185_87del (p.Met1fs)	EGF (M1fs)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2767200	NM_001963.6(EGF):c.1575+13del	EGF	Deletion (intron variant)	not provided	GLikely benign
Select item 2760522	NM_001963.6(EGF):c.2372-7T>A	EGF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2720957	NM_001963.6(EGF):c.1660G>C (p.Val554Leu)	EGF (V512L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2720950	NM_001963.6(EGF):c.2606C>T (p.Ser869Phe)	EGF (S827F +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2707665	NM_001963.6(EGF):c.1070T>C (p.Val357Ala)	EGF (V357A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2696299	NM_001963.6(EGF):c.2975A>G (p.Tyr992Cys)	EGF (Y869C +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2695686	NM_001963.6(EGF):c.3158G>A (p.Gly1053Glu)	EGF (G1011E +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2693051	NM_001963.6(EGF):c.2053+6G>C	EGF	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2655024	NM_001963.6(EGF):c.2673C>A (p.Thr891=)	EGF	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2631867	NM_001963.6(EGF):c.1003C>T (p.Gln335Ter)	EGF (Q335*)	Single nucleotide variant (nonsense +1 more)	EGF-related disorder	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 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 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 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 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 2509614	NM_001963.6(EGF):c.927C>A (p.Asp309Glu)	EGF (D309E)	Single nucleotide variant (missense variant)	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
Select item 2424334	NC_000004.11:g.(?_110834110)_(110932611_?)dup	EGF	Duplication	not provided	GUncertain significance
Select item 2419932	NM_001963.6(EGF):c.1966T>A (p.Leu656Met)	EGF (L614M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2419551	NM_001963.6(EGF):c.99C>T (p.Leu33=)	EGF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2419223	NM_001963.6(EGF):c.2491+8T>A	EGF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2418533	NM_001963.6(EGF):c.1066+7_1066+30dup	EGF	Duplication (splice donor variant +1 more)	not provided	GUncertain significance
Select item 2418342	NM_001963.6(EGF):c.2534G>A (p.Arg845Gln)	EGF (R803Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	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 2413247	NM_001963.6(EGF):c.1585G>T (p.Ala529Ser)	EGF (A487S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 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 2267758	NM_001963.6(EGF):c.1644G>T (p.Arg548Ser)	EGF (R548S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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