ADGB[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155377	GRCh38/hg38 6q23.2-27(chr6:133537271-165875545)x3	LOC129997450, LOC129997451 +1002 more	Copy number gain	See cases	GPathogenic
Select item 147665	GRCh38/hg38 6q23.3-25.3(chr6:135358150-155455117)x3	LOC129389692, LOC129389693 +614 more	Copy number gain	See cases	GPathogenic
Select item 57020	GRCh38/hg38 6q24.1-27(chr6:141132990-169339571)x3	FBXO5, FNDC1 +865 more	Copy number gain	See cases	GPathogenic
Select item 58452	GRCh38/hg38 6q24.2-25.2(chr6:144932561-152985364)x1	ADGB, ADGB-DT +227 more	Copy number loss	See cases	GPathogenic
Select item 242923	NC_000006.11:g.146735206_147036914del301709	ADGB, ADGB-DT +4 more	Deletion	Fragile X syndrome	GPathogenic
Select item 57320	GRCh38/hg38 6q24.3-25.1(chr6:146481119-151427629)x1	LOC132089373, LOC132090771 +172 more	Copy number loss	See cases	GPathogenic
Select item 3083098	NM_024694.4(ADGB):c.28G>A (p.Glu10Lys)	ADGB (E10K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083194	NM_024694.4(ADGB):c.47C>G (p.Ser16Trp)	ADGB (S16W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208697	NM_024694.4(ADGB):c.50C>T (p.Ala17Val)	ADGB (A17V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082961	NM_024694.4(ADGB):c.127G>A (p.Gly43Arg)	ADGB (G43R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2656976	NM_024694.4(ADGB):c.403-7T>C	ADGB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2224135	NM_024694.4(ADGB):c.509C>T (p.Pro170Leu)	ADGB (P170L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277063	NM_024694.4(ADGB):c.547G>T (p.Ala183Ser)	ADGB (A183S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482687	NM_024694.4(ADGB):c.754A>C (p.Ile252Leu)	ADGB (I252L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083243	NM_024694.4(ADGB):c.823G>C (p.Glu275Gln)	ADGB (E275Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083249	NM_024694.4(ADGB):c.881T>C (p.Ile294Thr)	ADGB (I294T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606507	NM_024694.4(ADGB):c.934G>A (p.Val312Met)	ADGB (V312M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083252	NM_024694.4(ADGB):c.958C>A (p.Pro320Thr)	ADGB (P320T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397477	NM_024694.4(ADGB):c.961G>A (p.Gly321Arg)	ADGB (G321R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2656977	NM_024694.4(ADGB):c.1040C>A (p.Ser347Tyr)	ADGB (S347Y)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2225060	NM_024694.4(ADGB):c.1057G>A (p.Ala353Thr)	ADGB (A353T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537352	NM_024694.4(ADGB):c.1085A>G (p.Lys362Arg)	ADGB (K362R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082941	NM_024694.4(ADGB):c.1130A>T (p.Asp377Val)	ADGB (D377V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228998	NM_024694.4(ADGB):c.1132G>A (p.Gly378Arg)	ADGB (G378R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343552	NM_024694.4(ADGB):c.1149C>G (p.Phe383Leu)	ADGB (F383L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082948	NM_024694.4(ADGB):c.1156T>A (p.Ser386Thr)	ADGB (S386T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082954	NM_024694.4(ADGB):c.1229T>C (p.Ile410Thr)	ADGB (I410T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082958	NM_024694.4(ADGB):c.1249G>A (p.Val417Ile)	ADGB (V417I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532527	NM_024694.4(ADGB):c.1447C>T (p.Arg483Cys)	ADGB (R483C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540501	NM_024694.4(ADGB):c.1474G>T (p.Asp492Tyr)	ADGB (D492Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219282	NM_024694.4(ADGB):c.1556C>T (p.Pro519Leu)	ADGB (P519L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475949	NM_024694.4(ADGB):c.1561A>G (p.Thr521Ala)	ADGB (T521A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082997	NM_024694.4(ADGB):c.1585G>A (p.Val529Met)	ADGB (V529M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282441	NM_024694.4(ADGB):c.1589G>T (p.Arg530Leu)	ADGB (R530L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527126	NM_024694.4(ADGB):c.1592C>T (p.Ser531Phe)	ADGB (S531F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394396	NM_024694.4(ADGB):c.1646C>G (p.Thr549Ser)	ADGB (T549S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508844	NM_024694.4(ADGB):c.1709G>A (p.Gly570Glu)	ADGB (G570E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083023	NM_024694.4(ADGB):c.1804G>A (p.Glu602Lys)	ADGB (E602K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083029	NM_024694.4(ADGB):c.1847C>T (p.Ser616Leu)	ADGB (S616L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251526	NM_024694.4(ADGB):c.1861C>T (p.Pro621Ser)	ADGB (P621S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083036	NM_024694.4(ADGB):c.1886A>C (p.Lys629Thr)	ADGB (K629T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405080	NM_024694.4(ADGB):c.1955G>A (p.Ser652Asn)	ADGB (S652N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312760	NM_024694.4(ADGB):c.2035C>G (p.Leu679Val)	ADGB (L679V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083045	NM_024694.4(ADGB):c.2116C>T (p.Pro706Ser)	ADGB (P706S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391951	NM_024694.4(ADGB):c.2221G>A (p.Val741Ile)	ADGB (V741I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083052	NM_024694.4(ADGB):c.2224C>T (p.Arg742Cys)	ADGB (R742C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361790	NM_024694.4(ADGB):c.2225G>A (p.Arg742His)	ADGB (R742H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408682	NM_024694.4(ADGB):c.2228T>G (p.Leu743Arg)	ADGB (L743R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083063	NM_024694.4(ADGB):c.2245A>G (p.Met749Val)	ADGB (M749V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385603	NM_024694.4(ADGB):c.2363G>A (p.Arg788Gln)	ADGB (R788Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596403	NM_024694.4(ADGB):c.2539T>C (p.Trp847Arg)	ADGB (W847R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345313	NM_024694.4(ADGB):c.2542C>T (p.Arg848Cys)	ADGB (R848C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083074	NM_024694.4(ADGB):c.2555A>T (p.Lys852Ile)	ADGB (K852I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523939	NM_024694.4(ADGB):c.2562A>C (p.Gln854His)	ADGB (Q854H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083079	NM_024694.4(ADGB):c.2626C>T (p.Leu876Phe)	ADGB (L876F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607581	NM_024694.4(ADGB):c.2675A>C (p.Lys892Thr)	ADGB (K892T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322548	NM_024694.4(ADGB):c.2680T>C (p.Cys894Arg)	ADGB (C894R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247047	NM_024694.4(ADGB):c.2710G>A (p.Ala904Thr)	ADGB (A904T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212939	NM_024694.4(ADGB):c.2786G>A (p.Arg929Lys)	ADGB (R929K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547204	NM_024694.4(ADGB):c.2803G>C (p.Glu935Gln)	ADGB (E935Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455029	NM_024694.4(ADGB):c.2832A>C (p.Gln944His)	ADGB (Q944H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280723	NM_024694.4(ADGB):c.2894T>C (p.Met965Thr)	ADGB (M965T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552558	NM_024694.4(ADGB):c.3131C>G (p.Pro1044Arg)	ADGB (P1044R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461289	NM_024694.4(ADGB):c.3166A>G (p.Thr1056Ala)	ADGB (T1056A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589613	NM_024694.4(ADGB):c.3326G>A (p.Arg1109Gln)	ADGB (R1109Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484518	NM_024694.4(ADGB):c.3472G>A (p.Val1158Met)	ADGB (V1158M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510574	NM_024694.4(ADGB):c.3578C>G (p.Ser1193Cys)	ADGB (S1193C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2656978	NM_024694.4(ADGB):c.3592G>T (p.Glu1198Ter)	ADGB (E1198*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2619276	NM_024694.4(ADGB):c.3650G>A (p.Gly1217Asp)	ADGB (G1217D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338023	NM_024694.4(ADGB):c.3679G>T (p.Gly1227Cys)	ADGB (G1227C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513506	NM_024694.4(ADGB):c.3713C>T (p.Thr1238Ile)	ADGB (T1238I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314851	NM_024694.4(ADGB):c.3718A>G (p.Thr1240Ala)	ADGB (T1240A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510575	NM_024694.4(ADGB):c.4064A>T (p.Asp1355Val)	ADGB (D1355V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083127	NM_024694.4(ADGB):c.4078T>C (p.Tyr1360His)	ADGB (Y1360H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345490	NM_024694.4(ADGB):c.4079A>G (p.Tyr1360Cys)	ADGB (Y1360C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326633	NM_024694.4(ADGB):c.4084A>G (p.Ile1362Val)	ADGB (I1362V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266266	NM_024694.4(ADGB):c.4144G>A (p.Glu1382Lys)	ADGB (E1382K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083139	NM_024694.4(ADGB):c.4147A>T (p.Arg1383Trp)	ADGB (R1383W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484547	NM_024694.4(ADGB):c.4225C>G (p.Arg1409Gly)	ADGB (R1409G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527266	NM_024694.4(ADGB):c.4235A>T (p.Tyr1412Phe)	ADGB (Y1412F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531652	NM_024694.4(ADGB):c.4252A>C (p.Lys1418Gln)	ADGB (K1418Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083152	NM_024694.4(ADGB):c.4272G>C (p.Glu1424Asp)	ADGB (E1424D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465341	NM_024694.4(ADGB):c.4336G>A (p.Val1446Ile)	ADGB (V1446I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083157	NM_024694.4(ADGB):c.4349A>G (p.Asn1450Ser)	ADGB (N1450S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219873	NM_024694.4(ADGB):c.4384A>G (p.Met1462Val)	ADGB (M1462V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394425	NM_024694.4(ADGB):c.4385T>A (p.Met1462Lys)	ADGB (M1462K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467800	NM_024694.4(ADGB):c.4447G>A (p.Asp1483Asn)	ADGB (D1483N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259511	NM_024694.4(ADGB):c.4471G>C (p.Glu1491Gln)	ADGB (E1491Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207987	NM_024694.4(ADGB):c.4507C>T (p.Arg1503Cys)	ADGB (R1503C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243368	NM_024694.4(ADGB):c.4562C>T (p.Pro1521Leu)	ADGB (P1521L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555797	NM_024694.4(ADGB):c.4607A>G (p.Glu1536Gly)	ADGB (E1536G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083178	NM_024694.4(ADGB):c.4633C>T (p.Arg1545Trp)	ADGB (R1545W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595561	NM_024694.4(ADGB):c.4636A>G (p.Lys1546Glu)	ADGB (K1546E)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2475170	NM_024694.4(ADGB):c.4700C>A (p.Ala1567Glu)	ADGB (A1567E)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2611262	NM_024694.4(ADGB):c.4755C>G (p.Asn1585Lys)	ADGB (N1585K)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2518401	NM_024694.4(ADGB):c.4772G>A (p.Arg1591Gln)	ADGB (R1591Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 2394428	NM_024694.4(ADGB):c.4827A>T (p.Leu1609Phe)	ADGB (L1609F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083203	NM_024694.4(ADGB):c.4856T>A (p.Ile1619Asn)	ADGB (I1619N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218673	NM_024694.4(ADGB):c.4872A>T (p.Arg1624Ser)	ADGB (R1624S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218219	NM_024694.4(ADGB):c.4889C>T (p.Ala1630Val)	ADGB (A1630V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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