ADGRB2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 149963	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	LINC02811, LITATS1 +1147 more	Copy number gain	See cases	GPathogenic
Select item 58058	GRCh38/hg38 1p36.11-35.2(chr1:26963045-32279045)x3	ADGRB2, AHDC1 +348 more	Copy number gain	See cases	GPathogenic
Select item 146124	GRCh38/hg38 1p35.3-35.1(chr1:28424867-33122854)x1	LOC129929998, LOC129929999 +293 more	Copy number loss	See cases	GPathogenic
Select item 59931	GRCh38/hg38 1p35.2-35.1(chr1:30766758-33359428)x1	A3GALT2, ADGRB2 +214 more	Copy number loss	See cases	GPathogenic
Select item 154853	GRCh38/hg38 1p35.2(chr1:30864842-32021241)x3	ADGRB2, COL16A1 +78 more	Copy number gain	See cases	GUncertain significance
Select item 58059	GRCh38/hg38 1p35.2-35.1(chr1:31122108-32402160)x3	LOC129930033, LOC129930034 +117 more	Copy number gain	See cases	GPathogenic
Select item 2887982	NM_001364857.2(ADGRB2):c.4735G>A (p.Gly1579Ser)	ADGRB2 (G1545S +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1548756	NM_001364857.2(ADGRB2):c.4730C>T (p.Pro1577Leu)	ADGRB2 (P1543L +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2263773	NM_001364857.2(ADGRB2):c.4724A>G (p.Glu1575Gly)	ADGRB2 (E1575G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 773632	NM_001364857.2(ADGRB2):c.4716G>A (p.Glu1572=)	ADGRB2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1494750	NM_001364857.2(ADGRB2):c.4685G>A (p.Arg1562Gln)	ADGRB2 (R1528Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3015695	NM_001364857.2(ADGRB2):c.4679G>A (p.Arg1560Gln)	ADGRB2 (R1559Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1564794	NM_001364857.2(ADGRB2):c.4671C>A (p.Pro1557=)	ADGRB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3084175	NM_001364857.2(ADGRB2):c.4669C>G (p.Pro1557Ala)	ADGRB2 (P1556A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237483	NM_001364857.2(ADGRB2):c.4619G>A (p.Arg1540His)	ADGRB2 (R1540H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383712	NM_001364857.2(ADGRB2):c.4615C>T (p.Arg1539Trp)	ADGRB2 (R1538W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1598588	NM_001364857.2(ADGRB2):c.4594C>T (p.Arg1532Cys)	ADGRB2 (R1498C +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1939355	NM_001364857.2(ADGRB2):c.4573-12C>T	ADGRB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1989701	NM_001364857.2(ADGRB2):c.4573-13G>A	ADGRB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1513948	NM_001364857.2(ADGRB2):c.4572+1G>A	ADGRB2	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2900782	NM_001364857.2(ADGRB2):c.4563C>T (p.Ser1521=)	ADGRB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1929046	NM_001364857.2(ADGRB2):c.4559G>A (p.Arg1520Gln)	ADGRB2 (R1486Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1409742	NM_001364857.2(ADGRB2):c.4555G>A (p.Glu1519Lys)	ADGRB2 (E1518K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 718417	NM_001364857.2(ADGRB2):c.4554C>G (p.Ala1518=)	ADGRB2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1596373	NM_001364857.2(ADGRB2):c.4551A>G (p.Ala1517=)	ADGRB2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 740234	NM_001364857.2(ADGRB2):c.4542G>A (p.Ser1514=)	ADGRB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2588189	NM_001364857.2(ADGRB2):c.4541C>T (p.Ser1514Leu)	ADGRB2 (S1480L +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2638605	NM_001364857.2(ADGRB2):c.4516A>C (p.Arg1506=)	ADGRB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1600941	NM_001364857.2(ADGRB2):c.4516-17G>A	ADGRB2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2981641	NM_001364857.2(ADGRB2):c.4515+16G>A	ADGRB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 788761	NM_001364857.2(ADGRB2):c.4515+10C>T	ADGRB2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1641501	NM_001364857.2(ADGRB2):c.4515+7G>C	ADGRB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 775529	NM_001364857.2(ADGRB2):c.4508C>T (p.Thr1503Met)	ADGRB2 (T1469M +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3270614	NM_001364857.2(ADGRB2):c.4495C>T (p.Arg1499Cys)	ADGRB2 (R1465C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084168	NM_001364857.2(ADGRB2):c.4490G>A (p.Arg1497His)	ADGRB2 (R1496H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266867	NM_001364857.2(ADGRB2):c.4490G>T (p.Arg1497Leu)	ADGRB2 (R1496L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1559485	NM_001364857.2(ADGRB2):c.4461G>A (p.Glu1487=)	ADGRB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2267509	NM_001364857.2(ADGRB2):c.4439G>A (p.Arg1480Gln)	ADGRB2 (R1479Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463179	NM_001364857.2(ADGRB2):c.4432C>T (p.Arg1478Trp)	ADGRB2 (R1444W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1989031	NM_001364857.2(ADGRB2):c.4416+11TG[3]	ADGRB2	Microsatellite (intron variant)	not provided	GBenign
Select item 2896822	NM_001364857.2(ADGRB2):c.4416+10A>G	ADGRB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 430853	NM_001364857.2(ADGRB2):c.4393C>T (p.Arg1465Trp)	ADGRB2 (R1465W +1 more)	Single nucleotide variant (missense variant)	Progressive spastic paraparesis	GLikely pathogenic
Select item 1503759	NM_001364857.2(ADGRB2):c.4327C>T (p.Arg1443Trp)	ADGRB2 (R1410W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2264033	NM_001364857.2(ADGRB2):c.4322G>A (p.Arg1441His)	ADGRB2 (R1441H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2067477	NM_001364857.2(ADGRB2):c.4294G>A (p.Ala1432Thr)	ADGRB2 (A1399T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3084160	NM_001364857.2(ADGRB2):c.4288C>T (p.Pro1430Ser)	ADGRB2 (P1397S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2984237	NM_001364857.2(ADGRB2):c.4281G>A (p.Pro1427=)	ADGRB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1631284	NM_001364857.2(ADGRB2):c.4275G>A (p.Pro1425=)	ADGRB2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2911586	NM_001364857.2(ADGRB2):c.4232C>T (p.Ala1411Val)	ADGRB2 (A1378V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2378565	NM_001364857.2(ADGRB2):c.4201G>A (p.Val1401Met)	ADGRB2 (V1401M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 775530	NM_001364857.2(ADGRB2):c.4197G>A (p.Leu1399=)	ADGRB2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3252064	NM_001364857.2(ADGRB2):c.4150C>T (p.Arg1384Ter)	ADGRB2 (R1351* +1 more)	Single nucleotide variant (nonsense)	Hereditary spastic paraplegia	GUncertain significance
Select item 2712978	NM_001364857.2(ADGRB2):c.4134G>A (p.Pro1378=)	ADGRB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1596382	NM_001364857.2(ADGRB2):c.4134G>C (p.Pro1378=)	ADGRB2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1644766	NM_001364857.2(ADGRB2):c.4113G>C (p.Glu1371Asp)	ADGRB2 (E1338D +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1473149	NM_001364857.2(ADGRB2):c.4093G>A (p.Gly1365Ser)	ADGRB2 (G1365S +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 3016061	NM_001364857.2(ADGRB2):c.4067G>A (p.Arg1356Gln)	ADGRB2 (R1323Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1600222	NM_001364857.2(ADGRB2):c.3892C>T (p.Leu1298=)	ADGRB2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2416057	NM_001364857.2(ADGRB2):c.3865C>T (p.Pro1289Ser)	ADGRB2 (P1256S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3084156	NM_001364857.2(ADGRB2):c.3859G>A (p.Val1287Met)	ADGRB2 (V1254M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2716212	NM_001364857.2(ADGRB2):c.3817C>T (p.Arg1273Cys)	ADGRB2 (R1240C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1550354	NM_001364857.2(ADGRB2):c.3792G>A (p.Pro1264=)	ADGRB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2695672	NM_001364857.2(ADGRB2):c.3789C>A (p.Asn1263Lys)	ADGRB2 (N1230K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 756090	NM_001364857.2(ADGRB2):c.3786C>T (p.Cys1262=)	ADGRB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2117547	NM_001364857.2(ADGRB2):c.3761-19C>G	ADGRB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1561657	NM_001364857.2(ADGRB2):c.3760+11C>T	ADGRB2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2261751	NM_001364857.2(ADGRB2):c.3706C>A (p.Gln1236Lys)	ADGRB2 (Q1236K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1969676	NM_001364857.2(ADGRB2):c.3705G>T (p.Gly1235=)	ADGRB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 738726	NM_001364857.2(ADGRB2):c.3702C>T (p.Asn1234=)	ADGRB2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 780228	NM_001364857.2(ADGRB2):c.3663G>A (p.Arg1221=)	ADGRB2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2512853	NM_001364857.2(ADGRB2):c.3620G>A (p.Arg1207Gln)	ADGRB2 (R1174Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1373453	NM_001364857.2(ADGRB2):c.3578C>T (p.Ala1193Val)	ADGRB2 (A1160V +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1987033	NM_001364857.2(ADGRB2):c.3577G>A (p.Ala1193Thr)	ADGRB2 (A1160T +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1590551	NM_001364857.2(ADGRB2):c.3576C>T (p.Ser1192=)	ADGRB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2338222	NM_001364857.2(ADGRB2):c.3569T>C (p.Phe1190Ser)	ADGRB2 (F1190S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084147	NM_001364857.2(ADGRB2):c.3514G>A (p.Val1172Ile)	ADGRB2 (V1172I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2062953	NM_001364857.2(ADGRB2):c.3513C>T (p.Ala1171=)	ADGRB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1643610	NM_001364857.2(ADGRB2):c.3498C>T (p.Leu1166=)	ADGRB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3003495	NM_001364857.2(ADGRB2):c.3476T>C (p.Val1159Ala)	ADGRB2 (V1126A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2307604	NM_001364857.2(ADGRB2):c.3407C>T (p.Ala1136Val)	ADGRB2 (A1136V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2516312	NM_001364857.2(ADGRB2):c.3373G>C (p.Ala1125Pro)	ADGRB2 (A1125P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2958233	NM_001364857.2(ADGRB2):c.3353+18G>C	ADGRB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1589198	NM_001364857.2(ADGRB2):c.3353+12dup	ADGRB2	Duplication (intron variant)	not provided	GBenign
Select item 1900348	NM_001364857.2(ADGRB2):c.3353+12del	ADGRB2	Deletion (intron variant)	not provided	GBenign
Select item 1599789	NM_001364857.2(ADGRB2):c.3353+12G>A	ADGRB2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1610588	NM_001364857.2(ADGRB2):c.3353+11G>C	ADGRB2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2754390	NM_001364857.2(ADGRB2):c.3353+10G>A	ADGRB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2973166	NM_001364857.2(ADGRB2):c.3353+6G>A	ADGRB2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1429532	NM_001364857.2(ADGRB2):c.3353+6G>C	ADGRB2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1469370	NM_001364857.2(ADGRB2):c.3352G>A (p.Gly1118Arg)	ADGRB2 (G1118R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2152708	NM_001364857.2(ADGRB2):c.3351C>T (p.Ala1117=)	ADGRB2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2611263	NM_001364857.2(ADGRB2):c.3328G>A (p.Asp1110Asn)	ADGRB2 (D1110N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2711262	NM_001364857.2(ADGRB2):c.3314G>A (p.Arg1105His)	ADGRB2 (R1105H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2366496	NM_001364857.2(ADGRB2):c.3313C>T (p.Arg1105Cys)	ADGRB2 (R1105C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 871137	NM_001364857.2(ADGRB2):c.3309G>A (p.Met1103Ile)	ADGRB2 (M1103I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2523470	NM_001364857.2(ADGRB2):c.3292G>A (p.Val1098Ile)	ADGRB2 (V1098I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084114	NM_001364857.2(ADGRB2):c.3280A>G (p.Ile1094Val)	ADGRB2 (I1094V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1635461	NM_001364857.2(ADGRB2):c.3268-14T>A	ADGRB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1531719	NM_001364857.2(ADGRB2):c.3267+11G>A	ADGRB2	Single nucleotide variant (intron variant)	not provided	GBenign

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