ClinVar Miner

List of variants in gene PACS1 reported as uncertain significance for Schuurs-Hoeijmakers syndrome

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Gene type:
ClinVar version:
Total variants: 232
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HGVS dbSNP gnomAD frequency
NM_018026.4(PACS1):c.1412C>T (p.Thr471Met) rs148237222 0.00011
NM_018026.4(PACS1):c.1079G>A (p.Arg360Gln) rs756287691 0.00006
NM_018026.4(PACS1):c.385G>A (p.Val129Ile) rs115491121 0.00006
NM_018026.4(PACS1):c.1760G>A (p.Arg587Gln) rs201700614 0.00004
NM_018026.4(PACS1):c.2281C>A (p.Pro761Thr) rs578033982 0.00004
NM_018026.4(PACS1):c.1286C>G (p.Thr429Ser) rs760985201 0.00003
NM_018026.4(PACS1):c.1442C>T (p.Thr481Ile) rs781666830 0.00003
NM_018026.4(PACS1):c.2087C>T (p.Ser696Leu) rs764689853 0.00003
NM_018026.4(PACS1):c.2327C>G (p.Thr776Ser) rs140167187 0.00003
NM_018026.4(PACS1):c.1516C>T (p.Arg506Trp) rs373127343 0.00002
NM_018026.4(PACS1):c.1066C>T (p.Arg356Cys) rs751741898 0.00001
NM_018026.4(PACS1):c.1162A>G (p.Thr388Ala) rs1036338542 0.00001
NM_018026.4(PACS1):c.1319T>A (p.Ile440Asn) rs1186664977 0.00001
NM_018026.4(PACS1):c.1349A>G (p.Asp450Gly) rs1239297294 0.00001
NM_018026.4(PACS1):c.1992C>T (p.Leu664=) rs780838334 0.00001
NM_018026.4(PACS1):c.2146G>A (p.Gly716Arg) rs762496747 0.00001
NM_018026.4(PACS1):c.650A>G (p.Asn217Ser) rs767885129 0.00001
NM_018026.4(PACS1):c.65G>A (p.Gly22Glu) rs1857288713 0.00001
NM_018026.4(PACS1):c.712G>A (p.Val238Met) rs377164490 0.00001
NC_000011.9:g.(?_65983570)_(66010751_?)del
NC_000011.9:g.(?_65983971)_(65984266_?)del
NC_000011.9:g.(?_66006255)_(66010751_?)del
NM_018026.4(PACS1):c.1002T>G (p.Phe334Leu)
NM_018026.4(PACS1):c.1027G>A (p.Val343Ile)
NM_018026.4(PACS1):c.104AGC[3] (p.Gln38_Gln40del)
NM_018026.4(PACS1):c.104AGC[9] (p.Gln38_Gln40dup) rs749515977
NM_018026.4(PACS1):c.1069G>C (p.Glu357Gln)
NM_018026.4(PACS1):c.1075A>G (p.Ile359Val)
NM_018026.4(PACS1):c.1115G>A (p.Ser372Asn)
NM_018026.4(PACS1):c.1126T>G (p.Tyr376Asp)
NM_018026.4(PACS1):c.1129A>C (p.Asn377His)
NM_018026.4(PACS1):c.1199+5G>A
NM_018026.4(PACS1):c.1199+6C>T
NM_018026.4(PACS1):c.1200G>A (p.Lys400=)
NM_018026.4(PACS1):c.1220C>T (p.Ser407Leu)
NM_018026.4(PACS1):c.1224G>C (p.Gln408His)
NM_018026.4(PACS1):c.1224G>T (p.Gln408His)
NM_018026.4(PACS1):c.1238C>T (p.Thr413Met)
NM_018026.4(PACS1):c.1269C>A (p.Ser423Arg)
NM_018026.4(PACS1):c.1270C>T (p.Leu424Phe)
NM_018026.4(PACS1):c.1291_1293+6dup
NM_018026.4(PACS1):c.1295T>C (p.Met432Thr)
NM_018026.4(PACS1):c.1299A>T (p.Glu433Asp)
NM_018026.4(PACS1):c.1328C>T (p.Thr443Ile)
NM_018026.4(PACS1):c.1346A>G (p.Asp449Gly)
NM_018026.4(PACS1):c.1347T>A (p.Asp449Glu)
NM_018026.4(PACS1):c.1355T>G (p.Leu452Trp)
NM_018026.4(PACS1):c.1370C>T (p.Thr457Ile)
NM_018026.4(PACS1):c.1372C>G (p.Leu458Val)
NM_018026.4(PACS1):c.1374+5G>A
NM_018026.4(PACS1):c.1384G>A (p.Asp462Asn)
NM_018026.4(PACS1):c.1390G>T (p.Asp464Tyr)
NM_018026.4(PACS1):c.1414A>G (p.Ser472Gly)
NM_018026.4(PACS1):c.1423G>A (p.Val475Met)
NM_018026.4(PACS1):c.1427C>A (p.Pro476Gln)
NM_018026.4(PACS1):c.1427C>T (p.Pro476Leu)
NM_018026.4(PACS1):c.1439A>G (p.Lys480Arg)
NM_018026.4(PACS1):c.1441A>C (p.Thr481Pro)
NM_018026.4(PACS1):c.1447A>G (p.Met483Val)
NM_018026.4(PACS1):c.1448_1456del (p.Met483_Ser485del)
NM_018026.4(PACS1):c.1466A>T (p.Asp489Val)
NM_018026.4(PACS1):c.1467T>A (p.Asp489Glu)
NM_018026.4(PACS1):c.1473G>C (p.Gln491His)
NM_018026.4(PACS1):c.1491-3C>T
NM_018026.4(PACS1):c.1495G>A (p.Val499Met) rs115813669
NM_018026.4(PACS1):c.1504G>A (p.Val502Met) rs1185372426
NM_018026.4(PACS1):c.1504G>T (p.Val502Leu)
NM_018026.4(PACS1):c.1532C>T (p.Thr511Met)
NM_018026.4(PACS1):c.1538T>C (p.Leu513Pro)
NM_018026.4(PACS1):c.1547G>A (p.Arg516Gln)
NM_018026.4(PACS1):c.1564C>G (p.Leu522Val) rs2134735798
NM_018026.4(PACS1):c.1577C>T (p.Thr526Ile)
NM_018026.4(PACS1):c.1595A>G (p.Glu532Gly)
NM_018026.4(PACS1):c.1603C>T (p.Pro535Ser)
NM_018026.4(PACS1):c.1606G>T (p.Asp536Tyr)
NM_018026.4(PACS1):c.1612G>A (p.Gly538Ser)
NM_018026.4(PACS1):c.1619G>T (p.Ser540Ile)
NM_018026.4(PACS1):c.1622C>T (p.Thr541Met)
NM_018026.4(PACS1):c.1626+1G>T
NM_018026.4(PACS1):c.1626+6T>C
NM_018026.4(PACS1):c.1643_1648del (p.Val548_Tyr549del)
NM_018026.4(PACS1):c.1644_1648del (p.Tyr549fs)
NM_018026.4(PACS1):c.1651C>A (p.Gln551Lys)
NM_018026.4(PACS1):c.1658A>G (p.Asn553Ser)
NM_018026.4(PACS1):c.1661A>G (p.Gln554Arg)
NM_018026.4(PACS1):c.1677T>G (p.Asp559Glu)
NM_018026.4(PACS1):c.1679C>T (p.Ala560Val)
NM_018026.4(PACS1):c.1684C>G (p.Leu562Val)
NM_018026.4(PACS1):c.1753G>C (p.Asp585His)
NM_018026.4(PACS1):c.1755C>A (p.Asp585Glu)
NM_018026.4(PACS1):c.1759C>T (p.Arg587Trp)
NM_018026.4(PACS1):c.1771G>A (p.Val591Met)
NM_018026.4(PACS1):c.1771G>C (p.Val591Leu)
NM_018026.4(PACS1):c.1784C>T (p.Ser595Phe)
NM_018026.4(PACS1):c.1789G>A (p.Val597Met)
NM_018026.4(PACS1):c.1811C>T (p.Ser604Phe)
NM_018026.4(PACS1):c.1813G>A (p.Ala605Thr)
NM_018026.4(PACS1):c.1814C>T (p.Ala605Val)
NM_018026.4(PACS1):c.1825C>T (p.Arg609Trp)
NM_018026.4(PACS1):c.1826G>A (p.Arg609Gln)
NM_018026.4(PACS1):c.1834C>T (p.Arg612Cys)
NM_018026.4(PACS1):c.1835G>A (p.Arg612His)
NM_018026.4(PACS1):c.1839-18_1839-17insTGGGCAGTG
NM_018026.4(PACS1):c.1862C>T (p.Pro621Leu) rs1554993480
NM_018026.4(PACS1):c.1879G>C (p.Ala627Pro)
NM_018026.4(PACS1):c.1883C>T (p.Ala628Val)
NM_018026.4(PACS1):c.1891G>C (p.Gly631Arg)
NM_018026.4(PACS1):c.1927G>A (p.Val643Ile)
NM_018026.4(PACS1):c.1939G>T (p.Ala647Ser)
NM_018026.4(PACS1):c.1970T>C (p.Met657Thr)
NM_018026.4(PACS1):c.1972C>T (p.Arg658Cys)
NM_018026.4(PACS1):c.1978C>T (p.Leu660Phe)
NM_018026.4(PACS1):c.1987C>T (p.Pro663Ser)
NM_018026.4(PACS1):c.1993+5A>G
NM_018026.4(PACS1):c.1993+5del rs755334128
NM_018026.4(PACS1):c.2021G>T (p.Gly674Val)
NM_018026.4(PACS1):c.2029G>A (p.Asp677Asn)
NM_018026.4(PACS1):c.2062G>A (p.Gly688Ser)
NM_018026.4(PACS1):c.2062G>T (p.Gly688Cys)
NM_018026.4(PACS1):c.2071G>T (p.Asp691Tyr)
NM_018026.4(PACS1):c.2082T>G (p.Ser694Arg)
NM_018026.4(PACS1):c.2083C>T (p.Arg695Cys)
NM_018026.4(PACS1):c.2084G>A (p.Arg695His)
NM_018026.4(PACS1):c.2089G>A (p.Glu697Lys)
NM_018026.4(PACS1):c.2089G>C (p.Glu697Gln)
NM_018026.4(PACS1):c.2125C>T (p.Arg709Trp)
NM_018026.4(PACS1):c.2140G>A (p.Val714Ile)
NM_018026.4(PACS1):c.2145C>G (p.Asn715Lys)
NM_018026.4(PACS1):c.2152G>T (p.Ala718Ser)
NM_018026.4(PACS1):c.2156C>T (p.Thr719Met)
NM_018026.4(PACS1):c.2173G>A (p.Val725Met)
NM_018026.4(PACS1):c.2179G>A (p.Glu727Lys)
NM_018026.4(PACS1):c.2189T>G (p.Leu730Arg)
NM_018026.4(PACS1):c.2197C>T (p.Arg733Trp)
NM_018026.4(PACS1):c.2207+2dup
NM_018026.4(PACS1):c.2228A>C (p.Gln743Pro)
NM_018026.4(PACS1):c.2250+3G>A
NM_018026.4(PACS1):c.2250C>G (p.Gly750=)
NM_018026.4(PACS1):c.2293+3G>A
NM_018026.4(PACS1):c.2299G>A (p.Gly767Arg) rs2134748638
NM_018026.4(PACS1):c.2305G>A (p.Asp769Asn) rs751638632
NM_018026.4(PACS1):c.2309C>G (p.Ser770Cys)
NM_018026.4(PACS1):c.2311C>T (p.Pro771Ser)
NM_018026.4(PACS1):c.2345C>T (p.Pro782Leu)
NM_018026.4(PACS1):c.2353_2373del (p.Ser785_Asp791del)
NM_018026.4(PACS1):c.2357C>T (p.Ser786Leu)
NM_018026.4(PACS1):c.2363T>C (p.Leu788Pro)
NM_018026.4(PACS1):c.2377A>G (p.Thr793Ala)
NM_018026.4(PACS1):c.2401T>C (p.Ser801Pro)
NM_018026.4(PACS1):c.2402C>G (p.Ser801Cys)
NM_018026.4(PACS1):c.2405T>C (p.Met802Thr)
NM_018026.4(PACS1):c.2422A>G (p.Ile808Val)
NM_018026.4(PACS1):c.2425G>A (p.Val809Met)
NM_018026.4(PACS1):c.2437A>C (p.Asn813His)
NM_018026.4(PACS1):c.2444C>T (p.Pro815Leu)
NM_018026.4(PACS1):c.2453A>T (p.Asp818Val)
NM_018026.4(PACS1):c.2483T>A (p.Leu828Gln)
NM_018026.4(PACS1):c.2492C>G (p.Pro831Arg)
NM_018026.4(PACS1):c.2515G>A (p.Asp839Asn)
NM_018026.4(PACS1):c.2534C>T (p.Ser845Leu)
NM_018026.4(PACS1):c.2591G>A (p.Ser864Asn)
NM_018026.4(PACS1):c.2605C>A (p.Leu869Ile)
NM_018026.4(PACS1):c.2609C>T (p.Ser870Phe)
NM_018026.4(PACS1):c.2649C>A (p.Asn883Lys)
NM_018026.4(PACS1):c.2656+1G>A
NM_018026.4(PACS1):c.2674A>T (p.Ser892Cys)
NM_018026.4(PACS1):c.2767A>G (p.Met923Val)
NM_018026.4(PACS1):c.2771T>C (p.Leu924Pro)
NM_018026.4(PACS1):c.2776+4C>T
NM_018026.4(PACS1):c.2776+5G>C rs371976817
NM_018026.4(PACS1):c.2785G>A (p.Asp929Asn)
NM_018026.4(PACS1):c.2800A>G (p.Ser934Gly)
NM_018026.4(PACS1):c.2885C>G (p.Ala962Gly)
NM_018026.4(PACS1):c.2892A>C (p.Ter964Cys)
NM_018026.4(PACS1):c.368T>C (p.Leu123Ser)
NM_018026.4(PACS1):c.388A>C (p.Met130Leu)
NM_018026.4(PACS1):c.400A>G (p.Met134Val)
NM_018026.4(PACS1):c.401T>G (p.Met134Arg)
NM_018026.4(PACS1):c.403G>T (p.Asp135Tyr)
NM_018026.4(PACS1):c.427A>G (p.Ile143Val)
NM_018026.4(PACS1):c.433G>A (p.Val145Met)
NM_018026.4(PACS1):c.439C>A (p.Leu147Met)
NM_018026.4(PACS1):c.444+6T>A
NM_018026.4(PACS1):c.444+9G>A
NM_018026.4(PACS1):c.445G>A (p.Gly149Ser)
NM_018026.4(PACS1):c.463C>T (p.Arg155Cys)
NM_018026.4(PACS1):c.472G>A (p.Glu158Lys) rs745939017
NM_018026.4(PACS1):c.478G>A (p.Val160Ile)
NM_018026.4(PACS1):c.491G>T (p.Ser164Ile)
NM_018026.4(PACS1):c.511C>T (p.Leu171Phe)
NM_018026.4(PACS1):c.524_526del (p.Phe175del)
NM_018026.4(PACS1):c.534G>C (p.Gln178His)
NM_018026.4(PACS1):c.535-1G>A
NM_018026.4(PACS1):c.541C>A (p.His181Asn)
NM_018026.4(PACS1):c.554G>A (p.Arg185Gln)
NM_018026.4(PACS1):c.661-15T>A rs1565150720
NM_018026.4(PACS1):c.670C>T (p.His224Tyr)
NM_018026.4(PACS1):c.685G>A (p.Ala229Thr)
NM_018026.4(PACS1):c.710A>G (p.Asn237Ser)
NM_018026.4(PACS1):c.725C>G (p.Ser242Cys)
NM_018026.4(PACS1):c.733G>A (p.Val245Met)
NM_018026.4(PACS1):c.733G>T (p.Val245Leu)
NM_018026.4(PACS1):c.748A>G (p.Ile250Val)
NM_018026.4(PACS1):c.752A>C (p.Tyr251Ser)
NM_018026.4(PACS1):c.752A>G (p.Tyr251Cys)
NM_018026.4(PACS1):c.778C>A (p.His260Asn)
NM_018026.4(PACS1):c.798G>C (p.Lys266Asn)
NM_018026.4(PACS1):c.805+9C>G
NM_018026.4(PACS1):c.806-12T>C
NM_018026.4(PACS1):c.806-3C>T
NM_018026.4(PACS1):c.808C>T (p.Arg270Cys)
NM_018026.4(PACS1):c.809G>A (p.Arg270His)
NM_018026.4(PACS1):c.812C>T (p.Ser271Phe)
NM_018026.4(PACS1):c.814C>G (p.Pro272Ala)
NM_018026.4(PACS1):c.838GAAGAG[3] (p.Glu283_Ser284insGluGlu)
NM_018026.4(PACS1):c.892G>A (p.Gly298Arg)
NM_018026.4(PACS1):c.910G>A (p.Glu304Lys)
NM_018026.4(PACS1):c.911A>T (p.Glu304Val)
NM_018026.4(PACS1):c.915C>A (p.Asp305Glu)
NM_018026.4(PACS1):c.919G>A (p.Asp307Asn)
NM_018026.4(PACS1):c.941C>G (p.Thr314Ser)
NM_018026.4(PACS1):c.943C>G (p.Arg315Gly)
NM_018026.4(PACS1):c.943C>T (p.Arg315Trp)
NM_018026.4(PACS1):c.944G>A (p.Arg315Gln)
NM_018026.4(PACS1):c.956C>T (p.Thr319Ile)
NM_018026.4(PACS1):c.957_959dup (p.Ser320_Thr321insSer)
NM_018026.4(PACS1):c.970A>G (p.Ile324Val)
NM_018026.4(PACS1):c.978+1G>A
NM_018026.4(PACS1):c.978+6C>T
NM_018026.4(PACS1):c.979-18T>C
NM_018026.4(PACS1):c.979-8C>G
NM_018026.4(PACS1):c.994C>G (p.Gln332Glu)

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