ClinVar for Gene (Select 30817) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3271046	NM_013447.4(ADGRE2):c.1303G>A (p.Gly435Ser)	ADGRE2 (G342S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271043	NM_013447.4(ADGRE2):c.847G>C (p.Asp283His)	ADGRE2 (D234H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271033	NM_013447.4(ADGRE2):c.2456C>G (p.Pro819Arg)	ADGRE2 (P761R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270991	NM_013447.4(ADGRE2):c.2228G>T (p.Cys743Phe)	ADGRE2 (C650F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270980	NM_013447.4(ADGRE2):c.502A>C (p.Thr168Pro)	ADGRE2 (T168P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3270972	NM_013447.4(ADGRE2):c.892A>G (p.Asn298Asp)	ADGRE2 (N205D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270961	NM_013447.4(ADGRE2):c.887T>C (p.Leu296Ser)	ADGRE2 (L247S +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3270950	NM_013447.4(ADGRE2):c.883G>A (p.Gly295Ser)	ADGRE2 (G246S +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3270939	NM_013447.4(ADGRE2):c.880C>A (p.Pro294Thr)	ADGRE2 (P245T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270922	NM_013447.4(ADGRE2):c.550G>A (p.Val184Met)	ADGRE2 (V184M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3242692	NC_000019.9:g.(?_14883134)_(14885138_?)del	ADGRE2	Deletion	not provided	GUncertain significance
Select item 3242691	NC_000019.9:g.(?_14884730)_(14887568_?)del	ADGRE2	Deletion	not provided	GUncertain significance
Select item 3242689	NC_000019.9:g.(?_14847048)_(14854616_?)del	ADGRE2	Deletion	not provided	GUncertain significance
Select item 3084819	NM_013447.4(ADGRE2):c.925G>T (p.Asp309Tyr)	ADGRE2 (D260Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084815	NM_013447.4(ADGRE2):c.788C>T (p.Thr263Ile)	ADGRE2 (T170I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084814	NM_013447.4(ADGRE2):c.716G>A (p.Arg239His)	ADGRE2 (R190H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084802	NM_013447.4(ADGRE2):c.559T>C (p.Tyr187His)	ADGRE2 (Y187H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3084799	NM_013447.4(ADGRE2):c.539G>A (p.Cys180Tyr)	ADGRE2 (C180Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3084791	NM_013447.4(ADGRE2):c.490G>A (p.Val164Met)	ADGRE2 (V164M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3084788	NM_013447.4(ADGRE2):c.409G>A (p.Val137Ile)	ADGRE2 (V137I)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3084778	NM_013447.4(ADGRE2):c.2389A>G (p.Arg797Gly)	ADGRE2 (R739G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084763	NM_013447.4(ADGRE2):c.2135A>G (p.Asn712Ser)	ADGRE2 (N619S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084752	NM_013447.4(ADGRE2):c.1929G>A (p.Met643Ile)	ADGRE2 (M550I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084690	NM_013447.4(ADGRE2):c.104A>G (p.Gln35Arg)	ADGRE2 (Q35R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084686	NM_013447.4(ADGRE2):c.1048A>G (p.Asn350Asp)	ADGRE2 (N350D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062393	GRCh37/hg19 19p13.13-13.11(chr19:13970692-18139376)x3	CYP4F8, DCAF15 +109 more	Copy number gain	not specified	GUncertain significance
Select item 3060873	NM_013447.4(ADGRE2):c.420C>T (p.Leu140=)	ADGRE2	Single nucleotide variant (synonymous variant +1 more)	ADGRE2-related disorder	GBenign
Select item 3060872	NM_013447.4(ADGRE2):c.432G>C (p.Thr144=)	ADGRE2	Single nucleotide variant (synonymous variant +1 more)	ADGRE2-related disorder	GBenign
Select item 3059959	NM_013447.4(ADGRE2):c.429C>T (p.Tyr143=)	ADGRE2	Single nucleotide variant (synonymous variant +1 more)	ADGRE2-related disorder	GBenign
Select item 3052714	NM_013447.4(ADGRE2):c.563A>G (p.Gln188Arg)	ADGRE2 (Q188R)	Single nucleotide variant (missense variant +1 more)	ADGRE2-related disorder	GBenign
Select item 3050177	NM_013447.4(ADGRE2):c.519A>G (p.Pro173=)	ADGRE2	Single nucleotide variant (synonymous variant +1 more)	ADGRE2-related disorder	GLikely benign
Select item 3049533	NM_013447.4(ADGRE2):c.-10A>T	ADGRE2	Single nucleotide variant (5 prime UTR variant)	ADGRE2-related disorder	GLikely benign
Select item 3044484	NM_013447.4(ADGRE2):c.499T>C (p.Cys167Arg)	ADGRE2 (C167R)	Single nucleotide variant (missense variant +1 more)	ADGRE2-related disorder	GBenign
Select item 3042606	NM_013447.4(ADGRE2):c.807G>A (p.Pro269=)	ADGRE2	Single nucleotide variant (synonymous variant)	ADGRE2-related disorder	GLikely benign
Select item 3035633	NM_013447.4(ADGRE2):c.654C>T (p.Ser218=)	ADGRE2	Single nucleotide variant (synonymous variant)	ADGRE2-related disorder	GLikely benign
Select item 3029902	NM_013447.4(ADGRE2):c.782-5T>C	ADGRE2	Single nucleotide variant (intron variant)	ADGRE2-related disorder	GLikely benign
Select item 3029409	NM_013447.4(ADGRE2):c.782-8C>G	ADGRE2	Single nucleotide variant (intron variant)	ADGRE2-related disorder	GLikely benign
Select item 3022634	NM_013447.4(ADGRE2):c.2063del (p.Phe688fs)	ADGRE2 (F595fs +3 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3021722	NM_013447.4(ADGRE2):c.2262G>A (p.Pro754=)	ADGRE2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3020978	NM_013447.4(ADGRE2):c.182C>G (p.Pro61Arg)	ADGRE2 (P61R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3019438	NM_013447.4(ADGRE2):c.274T>A (p.Tyr92Asn)	ADGRE2 (Y92N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3017858	NM_013447.4(ADGRE2):c.348G>A (p.Thr116=)	ADGRE2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3016964	NM_013447.4(ADGRE2):c.2270G>A (p.Arg757Gln)	ADGRE2 (R757Q +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3015025	NM_013447.4(ADGRE2):c.1508T>C (p.Ile503Thr)	ADGRE2 (I454T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3011207	NM_013447.4(ADGRE2):c.1012G>A (p.Glu338Lys)	ADGRE2 (E289K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3009841	NM_013447.4(ADGRE2):c.829A>G (p.Thr277Ala)	ADGRE2 (T184A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3008421	NM_013447.4(ADGRE2):c.2027G>T (p.Cys676Phe)	ADGRE2 (C627F +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3006802	NM_013447.4(ADGRE2):c.919G>T (p.Ala307Ser)	ADGRE2 (A307S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3006403	NM_013447.4(ADGRE2):c.1257G>C (p.Leu419=)	ADGRE2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3005827	NM_013447.4(ADGRE2):c.2183+18G>A	ADGRE2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3004488	NM_013447.4(ADGRE2):c.1775A>T (p.Gln592Leu)	ADGRE2 (Q499L +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3001132	NM_013447.4(ADGRE2):c.32-16C>T	ADGRE2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3000989	NM_013447.4(ADGRE2):c.230T>C (p.Val77Ala)	ADGRE2 (V77A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3000542	NM_013447.4(ADGRE2):c.1192+12G>T	ADGRE2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2999363	NM_013447.4(ADGRE2):c.2210A>T (p.Gln737Leu)	ADGRE2 (Q737L +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2999093	NM_013447.4(ADGRE2):c.1085-3T>C	ADGRE2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2997614	NM_013447.4(ADGRE2):c.1956C>T (p.Tyr652=)	ADGRE2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2993700	NM_013447.4(ADGRE2):c.2218A>G (p.Ile740Val)	ADGRE2 (I647V +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2993310	NM_013447.4(ADGRE2):c.79A>G (p.Arg27Gly)	ADGRE2 (R27G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2992177	NM_013447.4(ADGRE2):c.2183+11G>A	ADGRE2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2989860	NM_013447.4(ADGRE2):c.122A>G (p.Asn41Ser)	ADGRE2 (N41S)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2989172	NM_013447.4(ADGRE2):c.199+4C>T	ADGRE2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2988878	NM_013447.4(ADGRE2):c.1417-4G>A	ADGRE2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2988210	NM_013447.4(ADGRE2):c.214G>A (p.Ala72Thr)	ADGRE2 (A72T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2986690	NM_013447.4(ADGRE2):c.1820A>T (p.His607Leu)	ADGRE2 (H549L +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2986011	NM_013447.4(ADGRE2):c.2080G>A (p.Ala694Thr)	ADGRE2 (A636T +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2982799	NM_013447.4(ADGRE2):c.1432C>G (p.Gln478Glu)	ADGRE2 (Q429E +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2979321	NM_013447.4(ADGRE2):c.82+4A>G	ADGRE2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2978511	NM_013447.4(ADGRE2):c.1243G>A (p.Ala415Thr)	ADGRE2 (A415T +2 more)	Single nucleotide variant (missense variant)	Vibratory urticaria +2 more	GConflicting classifications of pathogenicity
Select item 2975901	NM_013447.4(ADGRE2):c.1399T>C (p.Phe467Leu)	ADGRE2 (F374L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2975880	NM_013447.4(ADGRE2):c.885C>T (p.Gly295=)	ADGRE2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2975735	NM_013447.4(ADGRE2):c.1353C>G (p.Ala451=)	ADGRE2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2974178	NM_013447.4(ADGRE2):c.2352+9G>T	ADGRE2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2974108	NM_013447.4(ADGRE2):c.1576C>T (p.His526Tyr)	ADGRE2 (H477Y +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2973357	NM_013447.4(ADGRE2):c.1896G>A (p.Thr632=)	ADGRE2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2972948	NM_013447.4(ADGRE2):c.1590+16G>A	ADGRE2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2971681	NM_013447.4(ADGRE2):c.829-18C>T	ADGRE2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2971652	NM_013447.4(ADGRE2):c.1368C>A (p.Asn456Lys)	ADGRE2 (N456K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2971524	NM_013447.4(ADGRE2):c.1385G>C (p.Ser462Thr)	ADGRE2 (S413T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2970689	NM_013447.4(ADGRE2):c.1590+14G>A	ADGRE2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2970162	NM_013447.4(ADGRE2):c.1556G>C (p.Ser519Thr)	ADGRE2 (S470T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2969175	NM_013447.4(ADGRE2):c.906+14C>A	ADGRE2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2967682	NM_013447.4(ADGRE2):c.200-13T>C	ADGRE2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2965187	NM_013447.4(ADGRE2):c.1428G>A (p.Pro476=)	ADGRE2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2962860	NM_013447.4(ADGRE2):c.2431A>G (p.Ser811Gly)	ADGRE2 (S718G +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2962796	NM_013447.4(ADGRE2):c.1789-20G>A	ADGRE2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2962141	NM_013447.4(ADGRE2):c.1062C>A (p.Asn354Lys)	ADGRE2 (N354K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2961154	NM_013447.4(ADGRE2):c.342G>A (p.Glu114=)	ADGRE2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2960150	NM_013447.4(ADGRE2):c.1591-9G>A	ADGRE2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2960134	NM_013447.4(ADGRE2):c.907A>G (p.Ser303Gly)	ADGRE2 (S254G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2959667	NM_013447.4(ADGRE2):c.1417-16T>C	ADGRE2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2958346	NM_013447.4(ADGRE2):c.1416+9T>C	ADGRE2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2956326	NM_013447.4(ADGRE2):c.276C>T (p.Tyr92=)	ADGRE2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2918640	NM_013447.4(ADGRE2):c.1727C>T (p.Ser576Leu)	ADGRE2 (S576L +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2916715	NM_013447.4(ADGRE2):c.1149G>A (p.Val383=)	ADGRE2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2914261	NM_013447.4(ADGRE2):c.77C>T (p.Ser26Phe)	ADGRE2 (S26F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2912152	NM_013447.4(ADGRE2):c.1257G>A (p.Leu419=)	ADGRE2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2905783	NM_013447.4(ADGRE2):c.2463G>T (p.Thr821=)	ADGRE2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2902081	NM_013447.4(ADGRE2):c.1414C>T (p.Arg472Cys)	ADGRE2 (R423C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2900372	NM_013447.4(ADGRE2):c.2004C>G (p.His668Gln)	ADGRE2 (H619Q +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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