ClinVar Miner

List of variants reported as likely pathogenic for GRACILE syndrome

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Total variants: 31
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HGVS dbSNP
NM_001079866.2(BCS1L):c.-49-539T>A rs386833855
NM_001079866.2(BCS1L):c.-50+388C>G rs1006907254
NM_001079866.2(BCS1L):c.-50+405A>G rs898301590
NM_001079866.2(BCS1L):c.1007+2_1007+5del rs1553597934
NM_001079866.2(BCS1L):c.1036C>T (p.Arg346Ter) rs550497120
NM_001079866.2(BCS1L):c.1127T>A (p.Leu376Ter) rs1553598145
NM_001079866.2(BCS1L):c.1244_1245del (p.Glu415fs) rs1057516786
NM_001079866.2(BCS1L):c.205C>T (p.Arg69Cys) rs377025174
NM_001079866.2(BCS1L):c.245C>A (p.Ser82Ter) rs749196764
NM_001079866.2(BCS1L):c.296C>T (p.Pro99Leu) rs121908572
NM_001079866.2(BCS1L):c.320+1G>T rs386833856
NM_001079866.2(BCS1L):c.349C>T (p.Arg117Ter) rs777735526
NM_001079866.2(BCS1L):c.372dup (p.Asp125fs) rs1553596638
NM_001079866.2(BCS1L):c.418del (p.Leu140fs) rs1057517412
NM_001079866.2(BCS1L):c.431G>A (p.Arg144Gln) rs386833857
NM_001079866.2(BCS1L):c.460+1G>A rs1553596761
NM_001079866.2(BCS1L):c.460+2T>C rs1057516954
NM_001079866.2(BCS1L):c.472del (p.Ala158fs) rs1553596929
NM_001079866.2(BCS1L):c.534del (p.Phe179fs) rs1553596996
NM_001079866.2(BCS1L):c.53del (p.Ala18fs) rs1553595997
NM_001079866.2(BCS1L):c.550C>T (p.Arg184Cys) rs121908578
NM_001079866.2(BCS1L):c.556C>T (p.Arg186Ter) rs779331797
NM_001079866.2(BCS1L):c.607dup (p.Arg203fs) rs1057516255
NM_001079866.2(BCS1L):c.655+1G>A rs1057516802
NM_001079866.2(BCS1L):c.772del (p.Asp258fs) rs1363475546
NM_001079866.2(BCS1L):c.821del (p.Pro274fs) rs760559534
NM_001079866.2(BCS1L):c.871C>T (p.Arg291Ter) rs201454788
NM_001079866.2(BCS1L):c.889+1G>A rs1057516346
NM_001079866.2(BCS1L):c.889+1G>T rs1057516346
NM_001079866.2(BCS1L):c.973dup (p.Arg325fs) rs1057516518
NM_001079866.2(BCS1L):c.980T>C (p.Val327Ala) rs386833858

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