ClinVar Miner

List of variants reported as likely benign for Baller-Gerold syndrome by Invitae

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 247
Download table as spreadsheet
HGVS dbSNP
NM_004260.3(RECQL4):c.1011C>A (p.Ala337=) rs759971028
NM_004260.3(RECQL4):c.1014C>T (p.Pro338=) rs373657692
NM_004260.3(RECQL4):c.1023C>T (p.Ile341=) rs371421344
NM_004260.3(RECQL4):c.1028C>T (p.Pro343Leu) rs549381989
NM_004260.3(RECQL4):c.1044T>C (p.His348=) rs754473947
NM_004260.3(RECQL4):c.1062A>G (p.Val354=) rs774698155
NM_004260.3(RECQL4):c.1063C>A (p.Arg355=) rs368601097
NM_004260.3(RECQL4):c.1089C>T (p.Tyr363=) rs377589237
NM_004260.3(RECQL4):c.10C>T (p.Leu4=) rs878854640
NM_004260.3(RECQL4):c.1115G>C (p.Arg372Thr) rs200097701
NM_004260.3(RECQL4):c.1131+9G>A rs373765596
NM_004260.3(RECQL4):c.114C>G (p.Thr38=) rs948891282
NM_004260.3(RECQL4):c.114C>T (p.Thr38=) rs948891282
NM_004260.3(RECQL4):c.1150C>A (p.Arg384=) rs766026341
NM_004260.3(RECQL4):c.1170T>C (p.Phe390=) rs768991485
NM_004260.3(RECQL4):c.1176T>G (p.Gly392=) rs1054027953
NM_004260.3(RECQL4):c.118+9G>A rs1472638346
NM_004260.3(RECQL4):c.1188A>G (p.Thr396=) rs1002397552
NM_004260.3(RECQL4):c.1227C>T (p.Phe409=) rs1060504219
NM_004260.3(RECQL4):c.1237_1238delinsAG (p.Ala413Arg) rs587778652
NM_004260.3(RECQL4):c.1251C>T (p.Pro417=) rs1060504213
NM_004260.3(RECQL4):c.1258+10C>T rs1554901592
NM_004260.3(RECQL4):c.1258+8A>G rs1554901599
NM_004260.3(RECQL4):c.1284T>C (p.Val428=) rs766635144
NM_004260.3(RECQL4):c.1347C>T (p.Thr449=) rs200763671
NM_004260.3(RECQL4):c.1351C>T (p.Leu451=) rs1257077599
NM_004260.3(RECQL4):c.1359C>G (p.Leu453=) rs1331671057
NM_004260.3(RECQL4):c.1390+8G>A rs746758227
NM_004260.3(RECQL4):c.1391-4G>T rs190388213
NM_004260.3(RECQL4):c.1391-7T>C rs566362207
NM_004260.3(RECQL4):c.1404G>A (p.Glu468=) rs371046973
NM_004260.3(RECQL4):c.1431G>T (p.Gly477=) rs760661879
NM_004260.3(RECQL4):c.1440C>T (p.Ala480=) rs1060504216
NM_004260.3(RECQL4):c.1446C>T (p.Arg482=) rs1279339947
NM_004260.3(RECQL4):c.1458G>A (p.Glu486=) rs1060504211
NM_004260.3(RECQL4):c.1483+7G>A rs373192242
NM_004260.3(RECQL4):c.1484-10C>T rs1307887954
NM_004260.3(RECQL4):c.1491C>T (p.Ser497=) rs369306389
NM_004260.3(RECQL4):c.1494G>A (p.Thr498=) rs557281237
NM_004260.3(RECQL4):c.1498C>T (p.Leu500=) rs892424433
NM_004260.3(RECQL4):c.1530G>C (p.Leu510=) rs372597841
NM_004260.3(RECQL4):c.1545A>G (p.Pro515=) rs773560213
NM_004260.3(RECQL4):c.1548G>A (p.Ala516=) rs377022089
NM_004260.3(RECQL4):c.1554C>T (p.Leu518=) rs780249574
NM_004260.3(RECQL4):c.1576C>T (p.Leu526Phe) rs200732690
NM_004260.3(RECQL4):c.1581G>A (p.Thr527=) rs367559988
NM_004260.3(RECQL4):c.1593T>C (p.Ser531=) rs1273482820
NM_004260.3(RECQL4):c.1597C>T (p.Leu533=) rs769939735
NM_004260.3(RECQL4):c.1614T>C (p.Asp538=) rs563786469
NM_004260.3(RECQL4):c.1620+5_1620+6dup rs1554900517
NM_004260.3(RECQL4):c.1621-4G>C rs765558442
NM_004260.3(RECQL4):c.1647G>A (p.Lys549=) rs371972881
NM_004260.3(RECQL4):c.1696C>T (p.Leu566=) rs371981215
NM_004260.3(RECQL4):c.1705-6C>T rs1554899989
NM_004260.3(RECQL4):c.1725C>T (p.His575=) rs773841916
NM_004260.3(RECQL4):c.1729C>T (p.Leu577=) rs973513805
NM_004260.3(RECQL4):c.1755G>C (p.Val585=) rs539370260
NM_004260.3(RECQL4):c.1755G>T (p.Val585=) rs539370260
NM_004260.3(RECQL4):c.1770C>G (p.Leu590=) rs377398995
NM_004260.3(RECQL4):c.1776A>G (p.Pro592=) rs1025483401
NM_004260.3(RECQL4):c.1779C>T (p.Ala593=) rs369939552
NM_004260.3(RECQL4):c.1833C>T (p.Ser611=) rs777698581
NM_004260.3(RECQL4):c.1847A>G (p.Asn616Ser) rs199654783
NM_004260.3(RECQL4):c.1848C>T (p.Asn616=) rs758924887
NM_004260.3(RECQL4):c.1863C>T (p.Tyr621=) rs1208882721
NM_004260.3(RECQL4):c.1864C>T (p.Leu622=) rs373717016
NM_004260.3(RECQL4):c.1869C>T (p.Arg623=) rs368736533
NM_004260.3(RECQL4):c.1872C>T (p.Val624=) rs201815449
NM_004260.3(RECQL4):c.1902G>T (p.Val634=) rs1395441455
NM_004260.3(RECQL4):c.1911C>T (p.Phe637=) rs765491293
NM_004260.3(RECQL4):c.1929A>G (p.Thr643=) rs761693070
NM_004260.3(RECQL4):c.192G>C (p.Ser64=) rs559507124
NM_004260.3(RECQL4):c.1953C>T (p.Asp651=) rs778308001
NM_004260.3(RECQL4):c.1965C>T (p.His655=) rs1060504209
NM_004260.3(RECQL4):c.1966C>T (p.Leu656=) rs55667349
NM_004260.3(RECQL4):c.1995C>T (p.His665=) rs759235313
NM_004260.3(RECQL4):c.2031C>T (p.Ser677=) rs749542193
NM_004260.3(RECQL4):c.2058+9G>A rs766002126
NM_004260.3(RECQL4):c.2059-5A>C rs370542063
NM_004260.3(RECQL4):c.2059-6C>T rs375702394
NM_004260.3(RECQL4):c.2059-7T>C rs1386690213
NM_004260.3(RECQL4):c.2059-8C>T rs777819705
NM_004260.3(RECQL4):c.2070G>A (p.Thr690=) rs779945948
NM_004260.3(RECQL4):c.2086C>A (p.Arg696Ser) rs531970883
NM_004260.3(RECQL4):c.2091T>C (p.Phe697=) rs386833850
NM_004260.3(RECQL4):c.2100C>T (p.Leu700=) rs775812008
NM_004260.3(RECQL4):c.2112C>T (p.Ile704=) rs368140492
NM_004260.3(RECQL4):c.213+7dup rs760933755
NM_004260.3(RECQL4):c.214-7C>T rs1047492140
NM_004260.3(RECQL4):c.2148C>T (p.Ile716=) rs772168426
NM_004260.3(RECQL4):c.2154G>C (p.Ala718=) rs745813211
NM_004260.3(RECQL4):c.2175C>T (p.His725=) rs569844897
NM_004260.3(RECQL4):c.2201-4A>G rs1554898543
NM_004260.3(RECQL4):c.2201-5C>G rs764321990
NM_004260.3(RECQL4):c.2201-8C>T rs200942592
NM_004260.3(RECQL4):c.2235C>T (p.His745=) rs372501393
NM_004260.3(RECQL4):c.2280C>T (p.Phe760=) rs1060504217
NM_004260.3(RECQL4):c.2301G>A (p.Val767=) rs1442614863
NM_004260.3(RECQL4):c.2307G>A (p.Val769=) rs1554898349
NM_004260.3(RECQL4):c.2343A>G (p.Pro781=) rs1060504215
NM_004260.3(RECQL4):c.2346T>C (p.Asp782=) rs752556078
NM_004260.3(RECQL4):c.2355T>C (p.Ala785=) rs1554898259
NM_004260.3(RECQL4):c.2406G>A (p.Val802=) rs754692026
NM_004260.3(RECQL4):c.240C>T (p.Pro80=) rs878854646
NM_004260.3(RECQL4):c.2424C>T (p.Asp808=) rs377301609
NM_004260.3(RECQL4):c.2426G>A (p.Gly809Glu) rs550469990
NM_004260.3(RECQL4):c.2463+7A>C rs767159855
NM_004260.3(RECQL4):c.2463+7_2463+8del rs750392035
NM_004260.3(RECQL4):c.2463+9C>T rs756789862
NM_004260.3(RECQL4):c.2464-4G>A rs371431265
NM_004260.3(RECQL4):c.2493T>C (p.His831=) rs780421783
NM_004260.3(RECQL4):c.2511G>A (p.Thr837=) rs772866964
NM_004260.3(RECQL4):c.2514C>T (p.Asp838=) rs771820219
NM_004260.3(RECQL4):c.2518C>T (p.Leu840=) rs201106179
NM_004260.3(RECQL4):c.2520G>T (p.Leu840=) rs1554897859
NM_004260.3(RECQL4):c.2529G>A (p.Lys843=) rs1554897835
NM_004260.3(RECQL4):c.252G>C (p.Arg84=) rs1483294893
NM_004260.3(RECQL4):c.2538A>G (p.Val846=) rs746303718
NM_004260.3(RECQL4):c.2568C>A (p.Thr856=) rs1401559978
NM_004260.3(RECQL4):c.2571C>T (p.Cys857=) rs368088860
NM_004260.3(RECQL4):c.2580G>A (p.Pro860=) rs370134665
NM_004260.3(RECQL4):c.2592G>A (p.Gln864=) rs878854648
NM_004260.3(RECQL4):c.261C>A (p.Thr87=) rs924413586
NM_004260.3(RECQL4):c.2631C>T (p.Tyr877=) rs762591075
NM_004260.3(RECQL4):c.2634C>A (p.Pro878=) rs769166199
NM_004260.3(RECQL4):c.2634C>G (p.Pro878=) rs769166199
NM_004260.3(RECQL4):c.2637T>A (p.Pro879=) rs909977633
NM_004260.3(RECQL4):c.2664A>G (p.Gln888=) rs779076624
NM_004260.3(RECQL4):c.2670C>T (p.Ala890=) rs780935988
NM_004260.3(RECQL4):c.2700T>C (p.His900=) rs1554897521
NM_004260.3(RECQL4):c.2715A>G (p.Pro905=) rs1463979799
NM_004260.3(RECQL4):c.2724T>C (p.Leu908=) rs368908286
NM_004260.3(RECQL4):c.2727C>T (p.Thr909=) rs757228367
NM_004260.3(RECQL4):c.2730A>T (p.Val910=) rs547042284
NM_004260.3(RECQL4):c.2736T>G (p.Ala912=) rs1013860595
NM_004260.3(RECQL4):c.2755+10C>T rs775596331
NM_004260.3(RECQL4):c.2756-5C>T rs541518527
NM_004260.3(RECQL4):c.2756-8G>T rs372723857
NM_004260.3(RECQL4):c.2757C>T (p.Ala919=) rs374692233
NM_004260.3(RECQL4):c.2769G>A (p.Leu923=) rs368618566
NM_004260.3(RECQL4):c.2775C>T (p.Cys925=) rs376838923
NM_004260.3(RECQL4):c.2799C>T (p.His933=) rs769613313
NM_004260.3(RECQL4):c.27G>A (p.Glu9=) rs1554905164
NM_004260.3(RECQL4):c.2805G>A (p.Leu935=) rs371434213
NM_004260.3(RECQL4):c.2820C>T (p.Thr940=) rs758900021
NM_004260.3(RECQL4):c.286C>A (p.Arg96=) rs375568877
NM_004260.3(RECQL4):c.2877G>A (p.Leu959=) rs779276650
NM_004260.3(RECQL4):c.2885+8C>T rs370547126
NM_004260.3(RECQL4):c.2885+9G>A rs578139954
NM_004260.3(RECQL4):c.2886-10C>T rs1060504220
NM_004260.3(RECQL4):c.2886-4A>C rs1554897071
NM_004260.3(RECQL4):c.2904G>A (p.Val968=) rs1554897039
NM_004260.3(RECQL4):c.2943C>G (p.Gly981=) rs1362234337
NM_004260.3(RECQL4):c.2949C>T (p.Ser983=) rs751727270
NM_004260.3(RECQL4):c.2952C>T (p.Ser984=) rs373784742
NM_004260.3(RECQL4):c.2953G>A (p.Val985Met) rs200629599
NM_004260.3(RECQL4):c.3009G>A (p.Val1003=) rs34919378
NM_004260.3(RECQL4):c.3010C>T (p.Arg1004Trp) rs36023964
NM_004260.3(RECQL4):c.3027G>A (p.Gln1009=) rs372660887
NM_004260.3(RECQL4):c.3033G>A (p.Gln1011=) rs1478532229
NM_004260.3(RECQL4):c.3042C>T (p.His1014=) rs750400159
NM_004260.3(RECQL4):c.3055+7C>G rs372511135
NM_004260.3(RECQL4):c.3056-6C>T rs748382510
NM_004260.3(RECQL4):c.3072A>G (p.Thr1024=) rs754479836
NM_004260.3(RECQL4):c.308C>T (p.Pro103Leu) rs199543866
NM_004260.3(RECQL4):c.3102C>T (p.Ala1034=) rs774570166
NM_004260.3(RECQL4):c.3132C>T (p.Thr1044=) rs373238823
NM_004260.3(RECQL4):c.3147C>T (p.Asp1049=) rs767781957
NM_004260.3(RECQL4):c.3156T>C (p.Cys1052=) rs200530038
NM_004260.3(RECQL4):c.3162C>T (p.Phe1054=) rs373372297
NM_004260.3(RECQL4):c.3204C>T (p.Ala1068=) rs764423233
NM_004260.3(RECQL4):c.3207T>C (p.Arg1069=) rs1060504218
NM_004260.3(RECQL4):c.3210G>A (p.Leu1070=) rs539631209
NM_004260.3(RECQL4):c.3216A>G (p.Arg1072=) rs1060504212
NM_004260.3(RECQL4):c.3225G>A (p.Gln1075=) rs1554896553
NM_004260.3(RECQL4):c.3236+9G>A rs747467559
NM_004260.3(RECQL4):c.3246C>T (p.Phe1082=) rs748604051
NM_004260.3(RECQL4):c.3303G>A (p.Lys1101=) rs771528925
NM_004260.3(RECQL4):c.3305A>G (p.Asp1102Gly) rs762384825
NM_004260.3(RECQL4):c.3309G>T (p.Leu1103=) rs986482653
NM_004260.3(RECQL4):c.3348G>A (p.Pro1116=) rs368712314
NM_004260.3(RECQL4):c.3363C>T (p.Asp1121=) rs148752485
NM_004260.3(RECQL4):c.3375C>T (p.Pro1125=) rs749208991
NM_004260.3(RECQL4):c.337C>A (p.Leu113Met) rs370011366
NM_004260.3(RECQL4):c.3384G>C (p.Gly1128=) rs376559433
NM_004260.3(RECQL4):c.3393+7_3393+8delinsAT rs1060504210
NM_004260.3(RECQL4):c.3402T>C (p.Asp1134=) rs371037028
NM_004260.3(RECQL4):c.3438C>T (p.Phe1146=) rs1554895855
NM_004260.3(RECQL4):c.3444C>T (p.Ser1148=) rs754479731
NM_004260.3(RECQL4):c.3450G>A (p.Arg1150=) rs1554895831
NM_004260.3(RECQL4):c.3465C>T (p.Phe1155=) rs376874393
NM_004260.3(RECQL4):c.3474G>A (p.Arg1158=) rs1060504221
NM_004260.3(RECQL4):c.3495C>T (p.His1165=) rs202083938
NM_004260.3(RECQL4):c.3502+10G>A rs908693736
NM_004260.3(RECQL4):c.3502+8C>G rs1060504222
NM_004260.3(RECQL4):c.3503-4G>A rs747471318
NM_004260.3(RECQL4):c.3507C>T (p.Ser1169=) rs370738615
NM_004260.3(RECQL4):c.3519G>A (p.Pro1173=) rs754019797
NM_004260.3(RECQL4):c.3519G>T (p.Pro1173=) rs754019797
NM_004260.3(RECQL4):c.355-5C>T rs372368046
NM_004260.3(RECQL4):c.355-8C>T rs368782236
NM_004260.3(RECQL4):c.357C>T (p.Ala119=) rs758460596
NM_004260.3(RECQL4):c.3582C>T (p.Ala1194=) rs772747279
NM_004260.3(RECQL4):c.3600G>A (p.Thr1200=) rs35225938
NM_004260.3(RECQL4):c.3622C>T (p.Arg1208Cys) rs41555416
NM_004260.3(RECQL4):c.3624C>A (p.Arg1208=) rs56341125
NM_004260.3(RECQL4):c.388C>T (p.Leu130=) rs878854650
NM_004260.3(RECQL4):c.399C>T (p.Ala133=) rs1554903680
NM_004260.3(RECQL4):c.417C>T (p.Thr139=) rs1554903649
NM_004260.3(RECQL4):c.444C>T (p.Val148=) rs559167672
NM_004260.3(RECQL4):c.447C>T (p.Pro149=) rs377485079
NM_004260.3(RECQL4):c.465C>T (p.Val155=) rs116137512
NM_004260.3(RECQL4):c.486C>A (p.Leu162=) rs955555365
NM_004260.3(RECQL4):c.486C>T (p.Leu162=) rs955555365
NM_004260.3(RECQL4):c.504G>A (p.Arg168=) rs750760763
NM_004260.3(RECQL4):c.507A>G (p.Pro169=) rs755588645
NM_004260.3(RECQL4):c.513G>C (p.Arg171=) rs878854651
NM_004260.3(RECQL4):c.514C>T (p.Leu172Phe) rs188859497
NM_004260.3(RECQL4):c.516C>G (p.Leu172=) rs1554903496
NM_004260.3(RECQL4):c.525G>A (p.Leu175=) rs562163514
NM_004260.3(RECQL4):c.556C>T (p.Leu186=) rs1171892293
NM_004260.3(RECQL4):c.558A>G (p.Leu186=) rs376582536
NM_004260.3(RECQL4):c.594C>G (p.Val198=) rs1060504214
NM_004260.3(RECQL4):c.612C>T (p.Ala204=) rs1026557548
NM_004260.3(RECQL4):c.621C>G (p.Ala207=) rs1554903266
NM_004260.3(RECQL4):c.634C>T (p.Leu212=) rs377012693
NM_004260.3(RECQL4):c.663C>T (p.Ile221=) rs367960606
NM_004260.3(RECQL4):c.675G>A (p.Ser225=) rs760733547
NM_004260.3(RECQL4):c.681C>T (p.Val227=) rs567959067
NM_004260.3(RECQL4):c.699C>T (p.Gly233=) rs770614796
NM_004260.3(RECQL4):c.69G>A (p.Gly23=) rs1034662952
NM_004260.3(RECQL4):c.705G>A (p.Gln235=) rs1177971610
NM_004260.3(RECQL4):c.735C>T (p.Val245=) rs373764166
NM_004260.3(RECQL4):c.804C>G (p.Pro268=) rs1240656822
NM_004260.3(RECQL4):c.804C>T (p.Pro268=) rs1240656822
NM_004260.3(RECQL4):c.85-4A>T rs942704068
NM_004260.3(RECQL4):c.85-8C>T rs1315086855
NM_004260.3(RECQL4):c.852C>T (p.Pro284=) rs1292797558
NM_004260.3(RECQL4):c.864G>A (p.Gly288=) rs1182438148
NM_004260.3(RECQL4):c.870G>A (p.Gly290=) rs889504089
NM_004260.3(RECQL4):c.897A>G (p.Pro299=) rs1554902618
NM_004260.3(RECQL4):c.901G>A (p.Glu301Lys) rs34633809
NM_004260.3(RECQL4):c.945G>A (p.Ser315=) rs371593078
NM_004260.3(RECQL4):c.948C>T (p.Asn316=) rs747324399
NM_004260.3(RECQL4):c.969C>T (p.Ser323=) rs745658597
NM_004260.3(RECQL4):c.999T>C (p.Ala333=) rs368084547
NM_004260.3(RECQL4):c.99G>T (p.Ala33=) rs546842338

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