ClinVar for Gene (Select 575) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3384214	Single allele	LOC101928902, LOC105375798 +289 more	Duplication	Recombinant 8 syndrome	GLikely pathogenic
Select item 3270552	NM_001702.3(ADGRB1):c.4217C>G (p.Ala1406Gly)	ADGRB1 (A1406G +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270541	NM_001702.3(ADGRB1):c.3127C>T (p.His1043Tyr)	ADGRB1 (H103Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270533	NM_001702.3(ADGRB1):c.2174G>A (p.Arg725Gln)	ADGRB1 (R725Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270527	NM_001702.3(ADGRB1):c.2384G>T (p.Gly795Val)	ADGRB1 (G792V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270524	NM_001702.3(ADGRB1):c.3764G>A (p.Arg1255Gln)	ADGRB1 (R1249Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270514	NM_001702.3(ADGRB1):c.881T>C (p.Val294Ala)	ADGRB1, LOC130001305 (V294A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270504	NM_001702.3(ADGRB1):c.611A>C (p.His204Pro)	ADGRB1 (H204P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270495	NM_001702.3(ADGRB1):c.1631G>A (p.Arg544Gln)	ADGRB1 (R541Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270485	NM_001702.3(ADGRB1):c.733G>A (p.Glu245Lys)	ADGRB1 (E245K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270478	NM_001702.3(ADGRB1):c.4145C>T (p.Thr1382Met)	ADGRB1 (T1382M +4 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3270469	NM_001702.3(ADGRB1):c.875C>G (p.Pro292Arg)	ADGRB1, LOC130001305 (P292R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270460	NM_001702.3(ADGRB1):c.4619C>T (p.Thr1540Met)	ADGRB1 (T1540M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3236641	NM_001702.3(ADGRB1):c.471del (p.Arg159fs)	ADGRB1 (R159fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3084000	NM_001702.3(ADGRB1):c.956G>A (p.Arg319His)	ADGRB1 (R319H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083997	NM_001702.3(ADGRB1):c.943G>A (p.Gly315Ser)	ADGRB1, LOC130001305 (G315S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083996	NM_001702.3(ADGRB1):c.890G>A (p.Gly297Asp)	ADGRB1, LOC130001305 (G297D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083988	NM_001702.3(ADGRB1):c.659C>T (p.Ala220Val)	ADGRB1 (A220V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083983	NM_001702.3(ADGRB1):c.4735G>A (p.Asp1579Asn)	ADGRB1 (D1573N +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083979	NM_001702.3(ADGRB1):c.469C>T (p.Arg157Trp)	ADGRB1 (R157W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083976	NM_001702.3(ADGRB1):c.4625C>T (p.Thr1542Met)	ADGRB1 (T1542M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083970	NM_001702.3(ADGRB1):c.4444T>C (p.Phe1482Leu)	ADGRB1 (F542L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083965	NM_001702.3(ADGRB1):c.4363C>T (p.Pro1455Ser)	ADGRB1 (P560S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083956	NM_001702.3(ADGRB1):c.4346C>T (p.Pro1449Leu)	ADGRB1 (P1443L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083915	NM_001702.3(ADGRB1):c.3883C>G (p.Pro1295Ala)	ADGRB1 (P355A +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083911	NM_001702.3(ADGRB1):c.3874C>A (p.Pro1292Thr)	ADGRB1 (P1286T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083907	NM_001702.3(ADGRB1):c.3866A>G (p.His1289Arg)	ADGRB1 (H349R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083897	NM_001702.3(ADGRB1):c.3463C>G (p.Leu1155Val)	ADGRB1 (L215V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083887	NM_001702.3(ADGRB1):c.3325A>T (p.Ile1109Phe)	ADGRB1 (I1103F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083875	NM_001702.3(ADGRB1):c.2870T>C (p.Val957Ala)	ADGRB1 (V954A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083870	NM_001702.3(ADGRB1):c.2738C>G (p.Pro913Arg)	ADGRB1 (P913R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3083862	NM_001702.3(ADGRB1):c.2585G>A (p.Arg862His)	ADGRB1 (R862H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083843	NM_001702.3(ADGRB1):c.2125G>A (p.Val709Ile)	ADGRB1 (V706I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083824	NM_001702.3(ADGRB1):c.1882C>T (p.Pro628Ser)	ADGRB1 (P625S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083818	NM_001702.3(ADGRB1):c.1817G>A (p.Arg606His)	ADGRB1 (R606H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083810	NM_001702.3(ADGRB1):c.1754A>G (p.Asn585Ser)	ADGRB1 (N585S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083798	NM_001702.3(ADGRB1):c.1652G>A (p.Gly551Glu)	ADGRB1 (G548E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083795	NM_001702.3(ADGRB1):c.1530G>C (p.Glu510Asp)	ADGRB1 (E510D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083793	NM_001702.3(ADGRB1):c.131C>A (p.Ala44Asp)	ADGRB1 (A44D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083790	NM_001702.3(ADGRB1):c.1237G>A (p.Asp413Asn)	ADGRB1 (D413N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 3024645	GRCh37/hg19 8q23.3-24.3(chr8:113392581-146364022)x3	NRBP2, NSMCE2 +173 more	Copy number gain	not provided	GPathogenic
Select item 2684556	GRCh37/hg19 8q24.3(chr8:141419599-146295771)x3	ADCK5, ADGRB1 +95 more	Copy number gain	not provided	GPathogenic
Select item 2622003	NM_001702.3(ADGRB1):c.88G>C (p.Ala30Pro)	ADGRB1 (A30P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619516	NM_001702.3(ADGRB1):c.2227C>T (p.Arg743Trp)	ADGRB1 (R743W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604298	NM_001702.3(ADGRB1):c.4021C>A (p.Leu1341Met)	ADGRB1 (L1338M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603019	NM_001702.3(ADGRB1):c.725G>C (p.Gly242Ala)	ADGRB1 (G242A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597402	NM_001702.3(ADGRB1):c.4415G>A (p.Arg1472Gln)	ADGRB1 (R1472Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590511	NM_001702.3(ADGRB1):c.1717C>T (p.Arg573Trp)	ADGRB1 (R570W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537524	NM_001702.3(ADGRB1):c.3767C>T (p.Pro1256Leu)	ADGRB1 (P1250L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536273	NM_001702.3(ADGRB1):c.2216A>G (p.Lys739Arg)	ADGRB1 (K736R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536131	NM_001702.3(ADGRB1):c.3139C>T (p.Arg1047Cys)	ADGRB1 (R107C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535878	NM_001702.3(ADGRB1):c.842T>G (p.Leu281Arg)	ADGRB1 (L281R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531508	NM_001702.3(ADGRB1):c.2363T>C (p.Met788Thr)	ADGRB1 (M788T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530832	NM_001702.3(ADGRB1):c.2079G>T (p.Met693Ile)	ADGRB1 (M690I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530150	NM_001702.3(ADGRB1):c.1964G>A (p.Arg655Gln)	ADGRB1 (R655Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494636	NM_001702.3(ADGRB1):c.3815C>T (p.Pro1272Leu)	ADGRB1 (P1269L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478626	NM_001702.3(ADGRB1):c.199C>T (p.Arg67Cys)	ADGRB1 (R67C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476183	NM_001702.3(ADGRB1):c.1300C>T (p.Arg434Cys)	ADGRB1 (R434C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470821	NM_001702.3(ADGRB1):c.4502G>A (p.Arg1501Gln)	ADGRB1 (R1495Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458695	NM_001702.3(ADGRB1):c.2338G>A (p.Gly780Arg)	ADGRB1 (G780R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409110	NM_001702.3(ADGRB1):c.4358C>T (p.Thr1453Met)	ADGRB1 (T1447M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397755	NM_001702.3(ADGRB1):c.4477C>A (p.Gln1493Lys)	ADGRB1 (Q1490K +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388174	NM_001702.3(ADGRB1):c.1808G>A (p.Arg603Gln)	ADGRB1 (R600Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385615	NM_001702.3(ADGRB1):c.2266A>C (p.Met756Leu)	ADGRB1 (M753L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379434	NM_001702.3(ADGRB1):c.2201C>T (p.Ala734Val)	ADGRB1 (A734V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378302	NM_001702.3(ADGRB1):c.655G>A (p.Glu219Lys)	ADGRB1 (E219K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374545	NM_001702.3(ADGRB1):c.4301C>T (p.Pro1434Leu)	ADGRB1 (P539L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367448	NM_001702.3(ADGRB1):c.2534C>T (p.Thr845Met)	ADGRB1 (T842M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355153	NM_001702.3(ADGRB1):c.4172G>A (p.Arg1391His)	ADGRB1 (R1388H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348284	NM_001702.3(ADGRB1):c.4253C>T (p.Pro1418Leu)	ADGRB1 (P523L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339928	NM_001702.3(ADGRB1):c.676G>A (p.Gly226Arg)	ADGRB1 (G226R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311139	NM_001702.3(ADGRB1):c.4198A>C (p.Ser1400Arg)	ADGRB1 (S1397R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310060	NM_001702.3(ADGRB1):c.1734T>G (p.His578Gln)	ADGRB1 (H578Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296563	NM_001702.3(ADGRB1):c.113C>T (p.Pro38Leu)	ADGRB1 (P38L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290211	NM_001702.3(ADGRB1):c.4681G>A (p.Val1561Met)	ADGRB1 (V1555M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277788	NM_001702.3(ADGRB1):c.2750T>A (p.Leu917His)	ADGRB1 (L914H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2277787	NM_001702.3(ADGRB1):c.2708C>A (p.Pro903His)	ADGRB1 (P900H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2274377	NM_001702.3(ADGRB1):c.548G>T (p.Arg183Leu)	ADGRB1 (R183L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260649	NM_001702.3(ADGRB1):c.3094G>A (p.Glu1032Lys)	ADGRB1 (E1029K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253916	NM_001702.3(ADGRB1):c.4187G>A (p.Arg1396His)	ADGRB1 (R1396H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252382	NM_001702.3(ADGRB1):c.674C>T (p.Ala225Val)	ADGRB1 (A225V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251567	NM_001702.3(ADGRB1):c.2029A>G (p.Thr677Ala)	ADGRB1 (T674A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245998	NM_001702.3(ADGRB1):c.391G>A (p.Ala131Thr)	ADGRB1 (A131T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243143	NM_001702.3(ADGRB1):c.4193C>A (p.Pro1398His)	ADGRB1 (P1392H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232568	NM_001702.3(ADGRB1):c.997C>T (p.Arg333Trp)	ADGRB1 (R333W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229346	NM_001702.3(ADGRB1):c.32T>G (p.Val11Gly)	ADGRB1 (V11G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221933	NM_001702.3(ADGRB1):c.4178C>T (p.Pro1393Leu)	ADGRB1 (P1387L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220637	NM_001702.3(ADGRB1):c.647T>C (p.Leu216Pro)	ADGRB1 (L216P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216269	NM_001702.3(ADGRB1):c.3376A>G (p.Lys1126Glu)	ADGRB1 (K1120E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214604	NM_001702.3(ADGRB1):c.4213G>A (p.Glu1405Lys)	ADGRB1 (E465K +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808357	GRCh37/hg19 8q24.3(chr8:142836592-144175046)x1	ADGRB1, ARC +14 more	Copy number loss	not provided	GUncertain significance
Select item 1711167	GRCh37/hg19 8q13.2-24.3(chr8:68912432-146295771)x2	AARD, ABRA +335 more	Copy number gain	See cases	GPathogenic
Select item 1706511	GRCh37/hg19 8q21.2-24.3(chr8:84712253-146295771)x3	AARD, ABRA +285 more	Copy number gain	See cases	GPathogenic
Select item 1703544	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	AARD, ABRA +665 more	Copy number gain	Polydactyly	GPathogenic
Select item 1676301	GRCh37/hg19 8q22.1-24.3(chr8:96496503-146295711)	FZD6, PCAT1 +236 more	Copy number gain	not provided	GPathogenic
Select item 1527465	GRCh37/hg19 8q24.21-24.3(chr8:130863093-146295771)	ADCK5, ADCY8 +117 more	Copy number gain	not specified	GPathogenic
Select item 1527440	GRCh37/hg19 8q13.2-24.3(chr8:70382990-146295771)	DCAF4L2, DCSTAMP +333 more	Copy number gain	not specified	GPathogenic
Select item 1327759	NM_001702.3(ADGRB1):c.2130+15C>G	ADGRB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 973039	NM_001702.3(ADGRB1):c.2696dup (p.Gln900fs)	ADGRB1 (Q900fs)	Duplication (frameshift variant)	not provided	Gnot provided

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