ClinVar for Gene (Select 166647) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3270449	NM_145290.4(ADGRA3):c.1133G>T (p.Arg378Leu)	ADGRA3 (R378L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270437	NM_145290.4(ADGRA3):c.3743A>C (p.Lys1248Thr)	ADGRA3 (K1248T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270426	NM_145290.4(ADGRA3):c.1059G>T (p.Arg353Ser)	ADGRA3 (R353S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270416	NM_145290.4(ADGRA3):c.2158T>C (p.Cys720Arg)	ADGRA3 (C720R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270396	NM_145290.4(ADGRA3):c.2243G>A (p.Gly748Glu)	ADGRA3 (G748E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270386	NM_145290.4(ADGRA3):c.2645G>C (p.Gly882Ala)	ADGRA3 (G882A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083770	NM_145290.4(ADGRA3):c.76G>C (p.Ala26Pro)	ADGRA3 (A26P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083763	NM_145290.4(ADGRA3):c.736A>G (p.Met246Val)	ADGRA3 (M246V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083754	NM_145290.4(ADGRA3):c.512G>A (p.Gly171Glu)	ADGRA3 (G171E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083689	NM_145290.4(ADGRA3):c.3431A>G (p.Glu1144Gly)	ADGRA3 (E1144G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083651	NM_145290.4(ADGRA3):c.2707C>T (p.Arg903Trp)	ADGRA3 (R903W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083557	NM_145290.4(ADGRA3):c.1235C>G (p.Ser412Cys)	ADGRA3 (S412C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083526	NM_145290.4(ADGRA3):c.1032T>A (p.Ser344Arg)	ADGRA3 (S344R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062750	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	ABLIM2, ACOX3 +226 more	Copy number gain	not specified	GPathogenic
Select item 3057996	NM_145290.4(ADGRA3):c.706+8A>G	ADGRA3	Single nucleotide variant (intron variant)	ADGRA3-related disorder	GLikely benign
Select item 3054518	NM_145290.4(ADGRA3):c.2988C>T (p.Leu996=)	ADGRA3	Single nucleotide variant (synonymous variant)	ADGRA3-related disorder	GLikely benign
Select item 3027666	NM_145290.4(ADGRA3):c.95G>T (p.Gly32Val)	ADGRA3 (G32V)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3027665	NM_145290.4(ADGRA3):c.108C>G (p.Ala36=)	ADGRA3	Single nucleotide variant (synonymous variant)	Retinal dystrophy	GUncertain significance
Select item 3027664	NM_145290.4(ADGRA3):c.309G>A (p.Gly103=)	ADGRA3	Single nucleotide variant (synonymous variant)	Retinal dystrophy	GUncertain significance
Select item 3027663	NM_145290.4(ADGRA3):c.366A>T (p.Pro122=)	ADGRA3	Single nucleotide variant (synonymous variant)	Retinal dystrophy	GUncertain significance
Select item 3027662	NM_145290.4(ADGRA3):c.501A>G (p.Ser167=)	ADGRA3	Single nucleotide variant (synonymous variant)	Retinal dystrophy	GLikely benign
Select item 3027661	NM_145290.4(ADGRA3):c.808G>C (p.Asp270His)	ADGRA3 (D270H)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3027659	NM_145290.4(ADGRA3):c.819G>T (p.Met273Ile)	ADGRA3 (M273I)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3027658	NM_145290.4(ADGRA3):c.950G>A (p.Gly317Glu)	ADGRA3 (G317E)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3027657	NM_145290.4(ADGRA3):c.1443+1G>A	ADGRA3	Single nucleotide variant (splice donor variant)	Retinal dystrophy	GUncertain significance
Select item 3027656	NM_145290.4(ADGRA3):c.1842T>A (p.Pro614=)	ADGRA3	Single nucleotide variant (synonymous variant)	Retinal dystrophy	GUncertain significance
Select item 3027655	NM_145290.4(ADGRA3):c.1850T>G (p.Leu617Arg)	ADGRA3 (L617R)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3027654	NM_145290.4(ADGRA3):c.1880G>C (p.Arg627Thr)	ADGRA3 (R627T)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3027653	NM_145290.4(ADGRA3):c.2000C>T (p.Thr667Ile)	ADGRA3 (T667I)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3027652	NM_145290.4(ADGRA3):c.2251C>T (p.Leu751=)	ADGRA3	Single nucleotide variant (synonymous variant)	Retinal dystrophy	GUncertain significance
Select item 3027651	NM_145290.4(ADGRA3):c.2844C>T (p.Arg948=)	ADGRA3	Single nucleotide variant (synonymous variant)	Retinal dystrophy	GUncertain significance
Select item 3027650	NM_145290.4(ADGRA3):c.3030G>T (p.Trp1010Cys)	ADGRA3 (W1010C)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3027649	NM_145290.4(ADGRA3):c.3644A>G (p.Glu1215Gly)	ADGRA3 (E1215G)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3027648	NM_145290.4(ADGRA3):c.3893A>C (p.Glu1298Ala)	ADGRA3 (E1298A)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3012233	NM_145290.4(ADGRA3):c.1911A>C (p.Gln637His)	ADGRA3 (Q637H)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3005974	NM_145290.4(ADGRA3):c.624G>A (p.Thr208=)	ADGRA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3005409	NM_145290.4(ADGRA3):c.2947A>T (p.Thr983Ser)	ADGRA3 (T983S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3005186	NM_145290.4(ADGRA3):c.1511C>T (p.Ala504Val)	ADGRA3 (A504V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3003695	NM_145290.4(ADGRA3):c.545+5G>A	ADGRA3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3003629	NM_145290.4(ADGRA3):c.3837A>C (p.Lys1279Asn)	ADGRA3 (K1279N)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3000175	NM_145290.4(ADGRA3):c.1810-13T>G	ADGRA3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2998858	NM_145290.4(ADGRA3):c.185A>G (p.Lys62Arg)	ADGRA3 (K62R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2998136	NM_145290.4(ADGRA3):c.2233-5C>T	ADGRA3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2996389	NM_145290.4(ADGRA3):c.1659G>C (p.Thr553=)	ADGRA3	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2996227	NM_145290.4(ADGRA3):c.3767C>T (p.Pro1256Leu)	ADGRA3 (P1256L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2996094	NM_145290.4(ADGRA3):c.2977C>A (p.His993Asn)	ADGRA3 (H993N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2993391	NM_145290.4(ADGRA3):c.181G>A (p.Gly61Ser)	ADGRA3 (G61S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2993005	NM_145290.4(ADGRA3):c.2723+13T>C	ADGRA3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2985348	NM_145290.4(ADGRA3):c.3219C>T (p.Asn1073=)	ADGRA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2984267	NM_145290.4(ADGRA3):c.401+13A>G	ADGRA3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2983502	NM_145290.4(ADGRA3):c.2661T>C (p.Ile887=)	ADGRA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2983426	NM_145290.4(ADGRA3):c.2520A>G (p.Val840=)	ADGRA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2981148	NM_145290.4(ADGRA3):c.3216C>T (p.Val1072=)	ADGRA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2979608	NM_145290.4(ADGRA3):c.110C>T (p.Ala37Val)	ADGRA3 (A37V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2979323	NM_145290.4(ADGRA3):c.2512G>A (p.Ala838Thr)	ADGRA3 (A838T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2979290	NM_145290.4(ADGRA3):c.1470A>G (p.Ala490=)	ADGRA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2976723	NM_145290.4(ADGRA3):c.842G>A (p.Gly281Glu)	ADGRA3 (G281E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2971316	NM_145290.4(ADGRA3):c.1444-19T>C	ADGRA3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2970204	NM_145290.4(ADGRA3):c.2233-17T>C	ADGRA3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2969984	NM_145290.4(ADGRA3):c.3088G>A (p.Val1030Ile)	ADGRA3 (V1030I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2965122	NM_145290.4(ADGRA3):c.2071C>T (p.Arg691Cys)	ADGRA3 (R691C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2963339	NM_145290.4(ADGRA3):c.1140C>G (p.Thr380=)	ADGRA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2960702	NM_145290.4(ADGRA3):c.3076G>A (p.Val1026Ile)	ADGRA3 (V1026I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2957541	NM_145290.4(ADGRA3):c.38C>A (p.Pro13Gln)	ADGRA3 (P13Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2956748	NM_145290.4(ADGRA3):c.32C>G (p.Ala11Gly)	ADGRA3 (A11G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2956606	NM_145290.4(ADGRA3):c.1680C>G (p.Phe560Leu)	ADGRA3 (F560L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2912483	NM_145290.4(ADGRA3):c.1836G>A (p.Gln612=)	ADGRA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2903853	NM_145290.4(ADGRA3):c.3642C>T (p.Asn1214=)	ADGRA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2900224	NM_145290.4(ADGRA3):c.997A>G (p.Asn333Asp)	ADGRA3 (N333D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2889149	NM_145290.4(ADGRA3):c.401+3_401+6del	ADGRA3	Deletion (splice donor variant)	not provided	GUncertain significance
Select item 2887803	NM_145290.4(ADGRA3):c.1896T>C (p.Ser632=)	ADGRA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2882175	NM_145290.4(ADGRA3):c.725C>T (p.Pro242Leu)	ADGRA3 (P242L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2879897	NM_145290.4(ADGRA3):c.2075G>A (p.Arg692Gln)	ADGRA3 (R692Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2879102	NM_145290.4(ADGRA3):c.2742_2743insTC (p.Pro915fs)	ADGRA3 (P915fs)	Insertion (frameshift variant)	not provided	GUncertain significance
Select item 2874286	NM_145290.4(ADGRA3):c.1606-9C>G	ADGRA3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2871384	NM_145290.4(ADGRA3):c.1883C>G (p.Pro628Arg)	ADGRA3 (P628R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2871270	NM_145290.4(ADGRA3):c.2813T>C (p.Ile938Thr)	ADGRA3 (I938T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2870910	NM_145290.4(ADGRA3):c.920+3A>G	ADGRA3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2869411	NM_145290.4(ADGRA3):c.3781A>G (p.Ser1261Gly)	ADGRA3 (S1261G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2867246	NM_145290.4(ADGRA3):c.2213G>A (p.Ser738Asn)	ADGRA3 (S738N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2866239	NM_145290.4(ADGRA3):c.2818A>C (p.Ile940Leu)	ADGRA3 (I940L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2861267	NM_145290.4(ADGRA3):c.2799G>C (p.Met933Ile)	ADGRA3 (M933I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2855263	NM_145290.4(ADGRA3):c.1031G>A (p.Ser344Asn)	ADGRA3 (S344N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2853845	NM_145290.4(ADGRA3):c.71T>C (p.Leu24Pro)	ADGRA3 (L24P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2847193	NM_145290.4(ADGRA3):c.1304C>G (p.Thr435Ser)	ADGRA3 (T435S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2846338	NM_145290.4(ADGRA3):c.2976T>C (p.Phe992=)	ADGRA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2843060	NM_145290.4(ADGRA3):c.3357G>A (p.Gln1119=)	ADGRA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2841628	NM_145290.4(ADGRA3):c.641G>C (p.Cys214Ser)	ADGRA3 (C214S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2838878	NM_145290.4(ADGRA3):c.2482-8C>T	ADGRA3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2838347	NM_145290.4(ADGRA3):c.1992T>C (p.Thr664=)	ADGRA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2838276	NM_145290.4(ADGRA3):c.2934G>A (p.Leu978=)	ADGRA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2837528	NM_145290.4(ADGRA3):c.2301T>C (p.Ala767=)	ADGRA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2831180	NM_145290.4(ADGRA3):c.3001C>G (p.Leu1001Val)	ADGRA3 (L1001V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2827895	NM_145290.4(ADGRA3):c.2240C>A (p.Thr747Lys)	ADGRA3 (T747K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2827495	NM_145290.4(ADGRA3):c.2460G>A (p.Arg820=)	ADGRA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2825103	NM_145290.4(ADGRA3):c.3923G>T (p.Gly1308Val)	ADGRA3 (G1308V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2825022	NM_145290.4(ADGRA3):c.2885T>A (p.Leu962Ter)	ADGRA3 (L962*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2820481	NM_145290.4(ADGRA3):c.3008T>C (p.Leu1003Ser)	ADGRA3 (L1003S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2818102	NM_145290.4(ADGRA3):c.3257C>G (p.Ala1086Gly)	ADGRA3 (A1086G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2817658	NM_145290.4(ADGRA3):c.60G>A (p.Ser20=)	ADGRA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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