ClinVar Miner

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

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Gene type:
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Total variants: 60
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HGVS dbSNP
NM_004260.3(RECQL4):c.1015del (p.Leu339fs) rs1060501384
NM_004260.3(RECQL4):c.1048_1049del (p.Arg350fs) rs746636748
NM_004260.3(RECQL4):c.1051_1052del (p.Gly351fs)
NM_004260.3(RECQL4):c.1131_1131+3delGGTA rs1060501353
NM_004260.3(RECQL4):c.1164_1165GT[1] (p.Cys389fs) rs34134064
NM_004260.3(RECQL4):c.1171_1172delinsC (p.Gly391fs) rs1564804342
NM_004260.3(RECQL4):c.1203del (p.Glu401fs) rs1220902289
NM_004260.3(RECQL4):c.1223_1224insT (p.Gln408fs)
NM_004260.3(RECQL4):c.1236G>A (p.Trp412Ter) rs1554901674
NM_004260.3(RECQL4):c.1390+2delT rs386833843
NM_004260.3(RECQL4):c.1391-1G>A rs117642173
NM_004260.3(RECQL4):c.1400del (p.Ala467fs) rs1564802464
NM_004260.3(RECQL4):c.143_144del (p.Leu48fs) rs1554904773
NM_004260.3(RECQL4):c.1568_1573delinsCCCCC (p.Ser523fs) rs1060501383
NM_004260.3(RECQL4):c.1573del (p.Cys525fs) rs386833845
NM_004260.3(RECQL4):c.1699C>T (p.Gln567Ter)
NM_004260.3(RECQL4):c.1770_1807del (p.Pro591fs) rs780542343
NM_004260.3(RECQL4):c.1816G>T (p.Glu606Ter) rs878854644
NM_004260.3(RECQL4):c.1834C>T (p.Gln612Ter) rs1554899728
NM_004260.3(RECQL4):c.1838G>A (p.Trp613Ter) rs1554899720
NM_004260.3(RECQL4):c.194_200del (p.Leu65fs) rs1554904685
NM_004260.3(RECQL4):c.1960C>T (p.Gln654Ter) rs552960344
NM_004260.3(RECQL4):c.2085del (p.Lys695fs) rs1457411812
NM_004260.3(RECQL4):c.2161C>T (p.Arg721Ter)
NM_004260.3(RECQL4):c.219_220AG[1] (p.Glu74fs) rs773325186
NM_004260.3(RECQL4):c.2269C>T (p.Gln757Ter) rs137853229
NM_004260.3(RECQL4):c.2379_2380dup (p.Ser794fs) rs878854645
NM_004260.3(RECQL4):c.2410_2414CGGGC[3] (p.Arg807fs)
NM_004260.3(RECQL4):c.2464-1G>A
NM_004260.3(RECQL4):c.2464-1G>C rs398124117
NM_004260.3(RECQL4):c.2476C>T (p.Arg826Ter) rs386833851
NM_004260.3(RECQL4):c.2492_2493del (p.His831fs) rs752729755
NM_004260.3(RECQL4):c.2545_2546GT[1] (p.Phe850fs) rs778141083
NM_004260.3(RECQL4):c.2590C>T (p.Gln864Ter) rs1054186954
NM_004260.3(RECQL4):c.2636dup (p.Gln880fs)
NM_004260.3(RECQL4):c.2662C>T (p.Gln888Ter)
NM_004260.3(RECQL4):c.2869C>T (p.Gln957Ter)
NM_004260.3(RECQL4):c.2889del (p.Pro965fs)
NM_004260.3(RECQL4):c.3006_3007TG[1] (p.Val1003fs)
NM_004260.3(RECQL4):c.3056-2A>C rs786200889
NM_004260.3(RECQL4):c.3061C>T (p.Arg1021Trp) rs137853232
NM_004260.3(RECQL4):c.3072_3073del (p.Val1026fs) rs771538008
NM_004260.3(RECQL4):c.3072del (p.Val1026fs) rs386833852
NM_004260.3(RECQL4):c.3139_3140GA[1] (p.Lys1048fs)
NM_004260.3(RECQL4):c.3148C>T (p.Gln1050Ter) rs1554896691
NM_004260.3(RECQL4):c.315C>G (p.Tyr105Ter)
NM_004260.3(RECQL4):c.318del (p.Gln107fs) rs775439596
NM_004260.3(RECQL4):c.3277del (p.Asp1093fs) rs1356876749
NM_004260.3(RECQL4):c.3280G>T (p.Glu1094Ter)
NM_004260.3(RECQL4):c.574C>T (p.Gln192Ter) rs1564808132
NM_004260.3(RECQL4):c.641C>A (p.Ser214Ter) rs1317950691
NM_004260.3(RECQL4):c.642_643AG[1] (p.Glu215fs)
NM_004260.3(RECQL4):c.674_675insT (p.Ala226fs) rs1564807584
NM_004260.3(RECQL4):c.686del (p.Gly229fs)
NM_004260.3(RECQL4):c.690_709del (p.Gly231fs)
NM_004260.3(RECQL4):c.752del (p.Ser251fs) rs1064796290
NM_004260.3(RECQL4):c.805del (p.Trp269fs) rs1060501370
NM_004260.3(RECQL4):c.871del (p.Ala291fs) rs1389647533
NM_004260.3(RECQL4):c.910C>T (p.Gln304Ter)
NM_004260.3(RECQL4):c.925C>T (p.Gln309Ter) rs1554902528

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