ClinVar Miner

List of variants in gene RECQL4 reported as pathogenic for Baller-Gerold syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 284
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004260.4(RECQL4):c.1390+2del rs386833843 0.00043
NM_004260.4(RECQL4):c.1573del (p.Cys525fs) rs386833845 0.00033
NM_004260.4(RECQL4):c.1048_1049del (p.Arg350fs) rs746636748 0.00013
NM_004260.4(RECQL4):c.2464-1G>C rs398124117 0.00012
NM_004260.4(RECQL4):c.2269C>T (p.Gln757Ter) rs137853229 0.00009
NM_004260.4(RECQL4):c.1391-1G>A rs117642173 0.00005
NM_004260.4(RECQL4):c.2650del (p.Gln884fs) rs1203766600 0.00005
NM_004260.4(RECQL4):c.3072del (p.Val1026fs) rs386833852 0.00005
NM_004260.4(RECQL4):c.2476C>T (p.Arg826Ter) rs386833851 0.00004
NM_004260.4(RECQL4):c.3072_3073del (p.Val1026fs) rs771538008 0.00004
NM_004260.4(RECQL4):c.1717C>T (p.Gln573Ter) rs1483085748 0.00003
NM_004260.4(RECQL4):c.2272C>T (p.Arg758Ter) rs758790200 0.00003
NM_004260.4(RECQL4):c.2492_2493del (p.His831fs) rs752729755 0.00003
NM_004260.4(RECQL4):c.2590C>T (p.Gln864Ter) rs1054186954 0.00002
NM_004260.4(RECQL4):c.1078C>T (p.Gln360Ter) rs375236875 0.00001
NM_004260.4(RECQL4):c.1397C>T (p.Pro466Leu) rs386833844 0.00001
NM_004260.4(RECQL4):c.1435C>T (p.Gln479Ter) rs1254532871 0.00001
NM_004260.4(RECQL4):c.1760del (p.Ala587fs) rs1827833554 0.00001
NM_004260.4(RECQL4):c.2059-1G>A rs386833849 0.00001
NM_004260.4(RECQL4):c.2161C>T (p.Arg721Ter) rs746691436 0.00001
NM_004260.4(RECQL4):c.2398C>T (p.Gln800Ter) rs1206089987 0.00001
NM_004260.4(RECQL4):c.2662C>T (p.Gln888Ter) rs1406641581 0.00001
NM_004260.4(RECQL4):c.2869C>T (p.Gln957Ter) rs368081792 0.00001
NM_004260.4(RECQL4):c.3056-2A>C rs786200889 0.00001
NM_004260.4(RECQL4):c.3061C>T (p.Arg1021Trp) rs137853232 0.00001
NM_004260.4(RECQL4):c.517C>T (p.Gln173Ter) rs373180788 0.00001
NM_004260.4(RECQL4):c.727C>T (p.Gln243Ter) rs1345625725 0.00001
NM_004260.4(RECQL4):c.752del (p.Ser251fs) rs1064796290 0.00001
NM_004260.4(RECQL4):c.910C>T (p.Gln304Ter) rs934534826 0.00001
NC_000008.10:g.(?_145736809)_(145739655_?)del
NC_000008.10:g.(?_145736814)_(145743168_?)del
NC_000008.10:g.(?_145737558)_(145739200_?)del
NC_000008.10:g.(?_145737562)_145739175del
NC_000008.10:g.(?_145737660)_(145737825_?)del
NC_000008.10:g.(?_145738234)_(145741987_?)del
NC_000008.10:g.(?_145738945)_(145743168_?)del
NC_000008.10:g.(?_145739302)_(145743168_?)del
NC_000008.11:g.(?_144514926)_(144517794_?)del
NC_000008.11:g.144515241CT[1]
NC_000008.11:g.144515850_144515851delinsG rs1564804342
NM_004260.4(RECQL4):c.1009del (p.Ala337fs)
NM_004260.4(RECQL4):c.1015del (p.Leu339fs) rs1060501384
NM_004260.4(RECQL4):c.1038_1039del (p.Arg347fs) rs1586821679
NM_004260.4(RECQL4):c.1048del (p.Arg350fs) rs770874039
NM_004260.4(RECQL4):c.1051_1052del (p.Gly351fs) rs1586821509
NM_004260.4(RECQL4):c.1089C>A (p.Tyr363Ter) rs377589237
NM_004260.4(RECQL4):c.1089C>G (p.Tyr363Ter) rs377589237
NM_004260.4(RECQL4):c.1097del (p.Gly366fs)
NM_004260.4(RECQL4):c.1102del (p.Ala368fs) rs886041662
NM_004260.4(RECQL4):c.1129C>T (p.Gln377Ter) rs372521987
NM_004260.4(RECQL4):c.1131_1131+3del rs1060501353
NM_004260.4(RECQL4):c.1137G>A (p.Trp379Ter) rs1360427319
NM_004260.4(RECQL4):c.1149G>A (p.Trp383Ter) rs1564804479
NM_004260.4(RECQL4):c.1162G>T (p.Glu388Ter) rs2130713508
NM_004260.4(RECQL4):c.1166_1167del (p.Cys389fs) rs34134064
NM_004260.4(RECQL4):c.1187_1188del (p.Thr396fs) rs1828085910
NM_004260.4(RECQL4):c.1203del (p.Glu401fs) rs1220902289
NM_004260.4(RECQL4):c.1209T>A (p.Cys403Ter)
NM_004260.4(RECQL4):c.1211del (p.Phe404fs) rs2130712718
NM_004260.4(RECQL4):c.1222C>T (p.Gln408Ter)
NM_004260.4(RECQL4):c.1223_1224insT (p.Gln408fs) rs1586819343
NM_004260.4(RECQL4):c.1236G>A (p.Trp412Ter) rs1554901674
NM_004260.4(RECQL4):c.1243C>T (p.Gln415Ter) rs2130712164
NM_004260.4(RECQL4):c.1252del (p.Arg418fs)
NM_004260.4(RECQL4):c.1264G>T (p.Glu422Ter)
NM_004260.4(RECQL4):c.1267G>T (p.Glu423Ter) rs1828019195
NM_004260.4(RECQL4):c.1274_1275del (p.Thr425fs)
NM_004260.4(RECQL4):c.1343_1347del (p.Pro448fs)
NM_004260.4(RECQL4):c.1356_1357del (p.Tyr454fs) rs2130707964
NM_004260.4(RECQL4):c.1377_1378del (p.Gly460fs)
NM_004260.4(RECQL4):c.1382del (p.Gln461fs) rs1564802842
NM_004260.4(RECQL4):c.1390+2T>C rs2130707477
NM_004260.4(RECQL4):c.1391-2A>G rs771839491
NM_004260.4(RECQL4):c.1400del (p.Ala467fs) rs1564802464
NM_004260.4(RECQL4):c.1409dup (p.Gln471fs) rs1827984994
NM_004260.4(RECQL4):c.1411C>T (p.Gln471Ter)
NM_004260.4(RECQL4):c.1411del (p.Gln471fs) rs2130706345
NM_004260.4(RECQL4):c.1423C>T (p.Gln475Ter)
NM_004260.4(RECQL4):c.1431del (p.His478fs)
NM_004260.4(RECQL4):c.1443dup (p.Arg482fs)
NM_004260.4(RECQL4):c.1527_1530del (p.Leu510fs)
NM_004260.4(RECQL4):c.1537C>T (p.Gln513Ter)
NM_004260.4(RECQL4):c.1561del (p.Arg521fs) rs2130703373
NM_004260.4(RECQL4):c.1568_1573delinsCCCCC (p.Ser523fs) rs1060501383
NM_004260.4(RECQL4):c.1573delinsCCCCC (p.Cys525fs)
NM_004260.4(RECQL4):c.1578del (p.Thr527fs)
NM_004260.4(RECQL4):c.1583del (p.Leu528fs) rs1564801266
NM_004260.4(RECQL4):c.1618C>T (p.Gln540Ter)
NM_004260.4(RECQL4):c.1631dup (p.Pro545fs) rs2130698955
NM_004260.4(RECQL4):c.1650_1656del (p.Ala551fs) rs786200887
NM_004260.4(RECQL4):c.1651del (p.Ala551fs)
NM_004260.4(RECQL4):c.1687G>T (p.Glu563Ter) rs1416634281
NM_004260.4(RECQL4):c.1699C>T (p.Gln567Ter) rs770709355
NM_004260.4(RECQL4):c.1711dup (p.Ala571fs)
NM_004260.4(RECQL4):c.1759del (p.Ala587fs) rs1564799470
NM_004260.4(RECQL4):c.1770_1807del (p.Pro591fs) rs780542343
NM_004260.4(RECQL4):c.1816G>T (p.Glu606Ter) rs878854644
NM_004260.4(RECQL4):c.1830dup (p.Ser611fs)
NM_004260.4(RECQL4):c.1834C>T (p.Gln612Ter) rs1554899728
NM_004260.4(RECQL4):c.1838G>A (p.Trp613Ter) rs1554899720
NM_004260.4(RECQL4):c.1852del (p.Arg618fs) rs909588820
NM_004260.4(RECQL4):c.1860C>A (p.Cys620Ter) rs1827815076
NM_004260.4(RECQL4):c.1861_1862insG (p.Tyr621Ter)
NM_004260.4(RECQL4):c.1887_1890del (p.Glu630fs) rs386833847
NM_004260.4(RECQL4):c.1888G>T (p.Glu630Ter)
NM_004260.4(RECQL4):c.191C>A (p.Ser64Ter) rs1554904702
NM_004260.4(RECQL4):c.1922_1923del (p.Thr641fs) rs1827788039
NM_004260.4(RECQL4):c.194_200del (p.Leu65fs) rs1554904685
NM_004260.4(RECQL4):c.1960C>T (p.Gln654Ter) rs552960344
NM_004260.4(RECQL4):c.198del (p.Ala67fs)
NM_004260.4(RECQL4):c.1990del (p.Leu664fs)
NM_004260.4(RECQL4):c.2013del (p.Thr672fs)
NM_004260.4(RECQL4):c.2026del (p.Leu676fs) rs2130690486
NM_004260.4(RECQL4):c.2051_2052del (p.Thr684fs)
NM_004260.4(RECQL4):c.2053_2054del (p.Asp685fs) rs2130690035
NM_004260.4(RECQL4):c.2059-1G>C rs386833849
NM_004260.4(RECQL4):c.2059-76_3204del
NM_004260.4(RECQL4):c.2064_2065del (p.Leu689fs)
NM_004260.4(RECQL4):c.2077C>T (p.Gln693Ter) rs1371868658
NM_004260.4(RECQL4):c.2083A>T (p.Lys695Ter) rs2130684472
NM_004260.4(RECQL4):c.2085del (p.Lys695fs) rs1457411812
NM_004260.4(RECQL4):c.2092C>T (p.Gln698Ter) rs994355873
NM_004260.4(RECQL4):c.2096del (p.Asn699fs) rs2130684253
NM_004260.4(RECQL4):c.2096dup (p.Asn699fs) rs2130684253
NM_004260.4(RECQL4):c.2118C>G (p.Tyr706Ter) rs574326650
NM_004260.4(RECQL4):c.211G>T (p.Glu71Ter)
NM_004260.4(RECQL4):c.2120_2159del (p.Cys707fs)
NM_004260.4(RECQL4):c.2139dup (p.Glu714fs)
NM_004260.4(RECQL4):c.2141_2142del (p.Glu714fs) rs746222099
NM_004260.4(RECQL4):c.2182_2189dup (p.Gly733fs)
NM_004260.4(RECQL4):c.2183G>A (p.Trp728Ter)
NM_004260.4(RECQL4):c.2184G>A (p.Trp728Ter) rs1466549456
NM_004260.4(RECQL4):c.2211dup (p.Lys738fs) rs1263096303
NM_004260.4(RECQL4):c.2215del (p.Thr739fs) rs2130680809
NM_004260.4(RECQL4):c.2216_2217del (p.Thr739fs)
NM_004260.4(RECQL4):c.221_222del (p.Glu74fs) rs773325186
NM_004260.4(RECQL4):c.2232C>G (p.Tyr744Ter)
NM_004260.4(RECQL4):c.2277dup (p.Phe760fs) rs2130679588
NM_004260.4(RECQL4):c.2288dup (p.Gln764fs) rs2130679413
NM_004260.4(RECQL4):c.2295del (p.Leu765fs)
NM_004260.4(RECQL4):c.2305del (p.Val769fs) rs2130679030
NM_004260.4(RECQL4):c.2322_2325dup (p.Met776fs)
NM_004260.4(RECQL4):c.236_237insCA (p.Pro80fs)
NM_004260.4(RECQL4):c.2374_2375insT (p.Pro792fs) rs2130677764
NM_004260.4(RECQL4):c.2378del (p.Pro793fs)
NM_004260.4(RECQL4):c.2379_2380dup (p.Ser794fs) rs878854645
NM_004260.4(RECQL4):c.237dup (p.Pro80fs) rs2130736361
NM_004260.4(RECQL4):c.2392_2402dup (p.Val802fs)
NM_004260.4(RECQL4):c.2398_2404del (p.Gln800fs)
NM_004260.4(RECQL4):c.2405_2409dup (p.Arg804fs) rs1827604419
NM_004260.4(RECQL4):c.2412_2420del (p.Ala805_Arg807del) rs766312203
NM_004260.4(RECQL4):c.2415_2419del (p.Ala805_Gly806insTer) rs1564794448
NM_004260.4(RECQL4):c.2415_2419dup (p.Arg807fs) rs1564794448
NM_004260.4(RECQL4):c.241del (p.His81fs)
NM_004260.4(RECQL4):c.2421_2425del (p.Asp808fs)
NM_004260.4(RECQL4):c.2422del (p.Asp808fs) rs1257273728
NM_004260.4(RECQL4):c.2428C>T (p.Gln810Ter)
NM_004260.4(RECQL4):c.2461C>T (p.Gln821Ter) rs1827595485
NM_004260.4(RECQL4):c.2464-1G>A rs398124117
NM_004260.4(RECQL4):c.2464_2468del (p.Gly822fs)
NM_004260.4(RECQL4):c.2479G>T (p.Glu827Ter)
NM_004260.4(RECQL4):c.2486_2501del (p.Arg829fs)
NM_004260.4(RECQL4):c.2492dup (p.His831fs)
NM_004260.4(RECQL4):c.2518del (p.Leu840fs) rs2130673117
NM_004260.4(RECQL4):c.2539C>T (p.Gln847Ter) rs1827556397
NM_004260.4(RECQL4):c.2547_2548del (p.Phe850fs) rs778141083
NM_004260.4(RECQL4):c.2552del (p.Pro851fs) rs1024114400
NM_004260.4(RECQL4):c.2631C>G (p.Tyr877Ter) rs762591075
NM_004260.4(RECQL4):c.2636del (p.Pro879fs) rs1215700016
NM_004260.4(RECQL4):c.2636dup (p.Gln880fs) rs1215700016
NM_004260.4(RECQL4):c.2638C>T (p.Gln880Ter) rs2130670832
NM_004260.4(RECQL4):c.2644_2647dup (p.Glu883delinsGlyTer) rs2130670737
NM_004260.4(RECQL4):c.2650C>T (p.Gln884Ter)
NM_004260.4(RECQL4):c.267_268del (p.Pro90fs)
NM_004260.4(RECQL4):c.2707del (p.Ala903fs)
NM_004260.4(RECQL4):c.2714_2727del (p.Pro905fs)
NM_004260.4(RECQL4):c.2719C>T (p.Gln907Ter) rs749389984
NM_004260.4(RECQL4):c.271C>T (p.Gln91Ter)
NM_004260.4(RECQL4):c.2749G>T (p.Glu917Ter)
NM_004260.4(RECQL4):c.2752G>T (p.Glu918Ter) rs762028333
NM_004260.4(RECQL4):c.2767_2768del (p.Leu923fs) rs757032044
NM_004260.4(RECQL4):c.2782G>T (p.Glu928Ter)
NM_004260.4(RECQL4):c.2802G>A (p.Trp934Ter) rs1827483654
NM_004260.4(RECQL4):c.2826_2827dup (p.Thr943fs)
NM_004260.4(RECQL4):c.2849del (p.Pro950fs)
NM_004260.4(RECQL4):c.2853_2869dup (p.Gln957fs)
NM_004260.4(RECQL4):c.2861_2877del (p.Ala954fs) rs1208137808
NM_004260.4(RECQL4):c.2863C>T (p.Gln955Ter)
NM_004260.4(RECQL4):c.287_300dup (p.Ser101fs)
NM_004260.4(RECQL4):c.2886-1G>A
NM_004260.4(RECQL4):c.2886-2A>G rs1402322681
NM_004260.4(RECQL4):c.2889del (p.Pro965fs) rs1586795973
NM_004260.4(RECQL4):c.2924del (p.Pro975fs)
NM_004260.4(RECQL4):c.2952_2958del (p.Val985fs) rs1259761865
NM_004260.4(RECQL4):c.2993G>A (p.Trp998Ter)
NM_004260.4(RECQL4):c.2994G>A (p.Trp998Ter)
NM_004260.4(RECQL4):c.2998del (p.Leu1000fs) rs1827432061
NM_004260.4(RECQL4):c.3008_3009del (p.Val1003fs) rs1586795055
NM_004260.4(RECQL4):c.3013_3014delinsTA (p.Arg1005Ter)
NM_004260.4(RECQL4):c.3022dup (p.Cys1008fs)
NM_004260.4(RECQL4):c.3025C>T (p.Gln1009Ter) rs1564790457
NM_004260.4(RECQL4):c.3025del (p.Gln1009fs)
NM_004260.4(RECQL4):c.3035G>A (p.Trp1012Ter) rs2130662004
NM_004260.4(RECQL4):c.3040del (p.His1014fs)
NM_004260.4(RECQL4):c.3115del (p.Ser1039fs)
NM_004260.4(RECQL4):c.3125del (p.Asp1042fs)
NM_004260.4(RECQL4):c.3132del (p.Ala1045fs)
NM_004260.4(RECQL4):c.3141_3142del (p.Lys1048fs) rs773765879
NM_004260.4(RECQL4):c.3148C>T (p.Gln1050Ter) rs1554896691
NM_004260.4(RECQL4):c.315C>G (p.Tyr105Ter) rs766643335
NM_004260.4(RECQL4):c.3161_3209del (p.Phe1054fs)
NM_004260.4(RECQL4):c.3163del (p.Leu1055fs) rs1827372162
NM_004260.4(RECQL4):c.3178C>T (p.Gln1060Ter)
NM_004260.4(RECQL4):c.3178_3185del (p.Gln1060fs)
NM_004260.4(RECQL4):c.3184dup (p.Arg1062fs) rs2130658485
NM_004260.4(RECQL4):c.318del (p.Gln107fs) rs775439596
NM_004260.4(RECQL4):c.3193C>T (p.Gln1065Ter) rs1586792875
NM_004260.4(RECQL4):c.319C>T (p.Gln107Ter)
NM_004260.4(RECQL4):c.3214_3215insC (p.Arg1072fs) rs1827352302
NM_004260.4(RECQL4):c.3223C>T (p.Gln1075Ter) rs1319295020
NM_004260.4(RECQL4):c.3262del (p.Cys1088fs) rs2130656050
NM_004260.4(RECQL4):c.3265del (p.Leu1089fs) rs2130655986
NM_004260.4(RECQL4):c.3277del (p.Asp1093fs) rs1356876749
NM_004260.4(RECQL4):c.3278_3279dup (p.Glu1094fs)
NM_004260.4(RECQL4):c.3278_3279insAAGGA (p.Asp1093fs)
NM_004260.4(RECQL4):c.3280G>T (p.Glu1094Ter) rs1586791537
NM_004260.4(RECQL4):c.3284_3287dup (p.Ser1097fs) rs1827314465
NM_004260.4(RECQL4):c.3289_3310dup (p.Leu1104fs)
NM_004260.4(RECQL4):c.3289dup (p.Ser1097fs)
NM_004260.4(RECQL4):c.3312_3319del (p.Gly1105fs) rs1827306118
NM_004260.4(RECQL4):c.3321C>G (p.Tyr1107Ter) rs376392965
NM_004260.4(RECQL4):c.3324_3325insAA (p.Glu1109fs) rs2130654895
NM_004260.4(RECQL4):c.3330dup (p.Glu1111fs) rs2130654806
NM_004260.4(RECQL4):c.3331G>T (p.Glu1111Ter) rs1331348912
NM_004260.4(RECQL4):c.3334G>T (p.Glu1112Ter) rs753620447
NM_004260.4(RECQL4):c.3334del (p.Glu1112fs)
NM_004260.4(RECQL4):c.3340C>T (p.Gln1114Ter) rs868635592
NM_004260.4(RECQL4):c.3367C>T (p.Gln1123Ter)
NM_004260.4(RECQL4):c.3397C>T (p.Gln1133Ter)
NM_004260.4(RECQL4):c.3404G>A (p.Trp1135Ter)
NM_004260.4(RECQL4):c.3405G>A (p.Trp1135Ter)
NM_004260.4(RECQL4):c.3416del (p.Val1139fs)
NM_004260.4(RECQL4):c.3433C>T (p.Gln1145Ter) rs1827248750
NM_004260.4(RECQL4):c.359_374delGACCAGCCCTGGGCCG rs1554903709
NM_004260.4(RECQL4):c.376del (p.Arg126fs)
NM_004260.4(RECQL4):c.384G>A (p.Trp128Ter)
NM_004260.4(RECQL4):c.400_416del (p.Ser134fs) rs2130729321
NM_004260.4(RECQL4):c.419del (p.Pro140fs) rs1406864413
NM_004260.4(RECQL4):c.461_462del (p.Lys154fs)
NM_004260.4(RECQL4):c.462_463insC (p.Val155fs) rs2130728440
NM_004260.4(RECQL4):c.481C>T (p.Gln161Ter)
NM_004260.4(RECQL4):c.526C>T (p.Gln176Ter) rs2130727195
NM_004260.4(RECQL4):c.539delinsCTCCCTAGCCCAGC (p.Ser180delinsThrProTer) rs1815053872
NM_004260.4(RECQL4):c.541C>T (p.Gln181Ter)
NM_004260.4(RECQL4):c.574C>T (p.Gln192Ter) rs1564808132
NM_004260.4(RECQL4):c.577C>T (p.Arg193Ter) rs754986197
NM_004260.4(RECQL4):c.615del (p.Ala207fs) rs1815033569
NM_004260.4(RECQL4):c.615dup (p.Lys206fs) rs1815033569
NM_004260.4(RECQL4):c.641C>A (p.Ser214Ter) rs1317950691
NM_004260.4(RECQL4):c.644_645del (p.Glu215fs) rs1586824938
NM_004260.4(RECQL4):c.652_653del (p.Gln218fs) rs745627867
NM_004260.4(RECQL4):c.660_661del (p.Ile221fs)
NM_004260.4(RECQL4):c.670G>T (p.Glu224Ter) rs775600052
NM_004260.4(RECQL4):c.674_675insT (p.Ala226fs) rs1564807584
NM_004260.4(RECQL4):c.686del (p.Gly229fs) rs1586824650
NM_004260.4(RECQL4):c.690_709del (p.Gly231fs) rs1586824430
NM_004260.4(RECQL4):c.694_707del (p.Ala232fs) rs2130723893
NM_004260.4(RECQL4):c.703C>T (p.Gln235Ter)
NM_004260.4(RECQL4):c.715del (p.Ala239fs)
NM_004260.4(RECQL4):c.757dup (p.Gln253fs)
NM_004260.4(RECQL4):c.792del (p.Arg263_Trp264insTer)
NM_004260.4(RECQL4):c.805del (p.Trp269fs) rs1060501370
NM_004260.4(RECQL4):c.806G>A (p.Trp269Ter) rs137853231
NM_004260.4(RECQL4):c.843_847dup (p.Gly283fs) rs2130721433
NM_004260.4(RECQL4):c.854del (p.Pro285fs) rs1292831710
NM_004260.4(RECQL4):c.854dup (p.Ser286fs)
NM_004260.4(RECQL4):c.865del (p.Ala289fs)
NM_004260.4(RECQL4):c.871del (p.Ala291fs) rs1389647533
NM_004260.4(RECQL4):c.897del (p.Glu301fs) rs2130720341
NM_004260.4(RECQL4):c.910_917dup (p.Gln306fs)
NM_004260.4(RECQL4):c.925C>T (p.Gln309Ter) rs1554902528
NM_004260.4(RECQL4):c.931_950del (p.Cys311fs)
NM_004260.4(RECQL4):c.988_1004del (p.Ala330fs) rs2130718160
NM_004260.4(RECQL4):c.988dup (p.Ala330fs) rs2130718434

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.