ClinVar Miner

List of variants in gene BSCL2, HNRNPUL2-BSCL2 studied for Berardinelli-Seip congenital lipodystrophy

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 60
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HGVS dbSNP
NM_001122955.3(BSCL2):c.124C>T (p.Arg42Cys) rs201493373
NM_001122955.3(BSCL2):c.131G>A (p.Gly44Asp) rs769536524
NM_001122955.3(BSCL2):c.133G>A (p.Gly45Ser) rs3763853
NM_001122955.3(BSCL2):c.184C>T (p.Leu62Phe) rs756907468
NM_001122955.3(BSCL2):c.334C>T (p.Leu112Phe) rs1057517657
NM_001122955.3(BSCL2):c.604C>T (p.Arg202Ter) rs137852970
NM_001122955.3(BSCL2):c.826G>C (p.Ala276Pro) rs137852971
NM_032667.6(BSCL2):c.*49T>G rs368144792
NM_032667.6(BSCL2):c.-133G>A rs112877243
NM_032667.6(BSCL2):c.-140A>C rs886048443
NM_032667.6(BSCL2):c.-154G>C rs575422877
NM_032667.6(BSCL2):c.-182C>A rs117597269
NM_032667.6(BSCL2):c.-183G>A rs117862461
NM_032667.6(BSCL2):c.-194G>T rs549450153
NM_032667.6(BSCL2):c.1042+14T>G rs778380128
NM_032667.6(BSCL2):c.1043-2A>C rs1565142553
NM_032667.6(BSCL2):c.1088T>C (p.Leu363Pro) rs145649423
NM_032667.6(BSCL2):c.1106C>T (p.Ala369Val)
NM_032667.6(BSCL2):c.154_155dup (p.Tyr53fs) rs1057517658
NM_032667.6(BSCL2):c.192_193delinsGGA (p.Ser64fs) rs786205068
NM_032667.6(BSCL2):c.193delinsGGA (p.Pro65fs) rs1057517659
NM_032667.6(BSCL2):c.210C>G (p.Tyr70Ter) rs557044760
NM_032667.6(BSCL2):c.212+1G>T rs1565152616
NM_032667.6(BSCL2):c.232A>G (p.Thr78Ala) rs1565150951
NM_032667.6(BSCL2):c.256G>A (p.Val86Ile) rs149412531
NM_032667.6(BSCL2):c.294+11G>T rs72929434
NM_032667.6(BSCL2):c.301_302insAA (p.Met101fs) rs786205069
NM_032667.6(BSCL2):c.315_316del (p.Tyr106fs) rs786205070
NM_032667.6(BSCL2):c.317_321del (p.Tyr106fs) rs587777608
NM_032667.6(BSCL2):c.325dup (p.Thr109fs) rs786205071
NM_032667.6(BSCL2):c.352C>A (p.Pro118Thr) rs886048442
NM_032667.6(BSCL2):c.396C>T (p.Cys132=) rs369806785
NM_032667.6(BSCL2):c.423C>T (p.Ser141=) rs140208002
NM_032667.6(BSCL2):c.545_546insCCG (p.Glu182delinsAspArg) rs747297291
NM_032667.6(BSCL2):c.553G>A (p.Ala185Thr) rs10776
NM_032667.6(BSCL2):c.553G>T (p.Ala185Ser) rs10776
NM_032667.6(BSCL2):c.563_564GA[2] (p.Asn190fs) rs1565144681
NM_032667.6(BSCL2):c.565G>T (p.Glu189Ter) rs137852975
NM_032667.6(BSCL2):c.573+15C>T rs79586077
NM_032667.6(BSCL2):c.574-2A>G rs1013079991
NM_032667.6(BSCL2):c.584C>T (p.Thr195Ile) rs1565144468
NM_032667.6(BSCL2):c.631G>A (p.Gly211Arg) rs151018278
NM_032667.6(BSCL2):c.636del (p.Tyr213fs) rs758843908
NM_032667.6(BSCL2):c.652_662del (p.Ala218fs) rs1064797076
NM_032667.6(BSCL2):c.653C>T (p.Ala218Val) rs185341934
NM_032667.6(BSCL2):c.669C>T (p.Leu223=) rs370926100
NM_032667.6(BSCL2):c.671+5G>A rs786205072
NM_032667.6(BSCL2):c.672-2A>C rs766061024
NM_032667.6(BSCL2):c.672-2A>G rs766061024
NM_032667.6(BSCL2):c.672-3C>G rs786205073
NM_032667.6(BSCL2):c.747C>T (p.Ile249=) rs200300686
NM_032667.6(BSCL2):c.750dup (p.Leu251fs) rs1554983076
NM_032667.6(BSCL2):c.782dup (p.Ile262fs) rs749890533
NM_032667.6(BSCL2):c.793C>T (p.Arg265Ter) rs587777606
NM_032667.6(BSCL2):c.814-2A>G rs879254029
NM_032667.6(BSCL2):c.823C>T (p.Arg275Ter) rs137852974
NM_032667.6(BSCL2):c.862A>G (p.Ile288Val) rs775718358
NM_032667.6(BSCL2):c.908C>T (p.Pro303Leu) rs144245125
NM_032667.6(BSCL2):c.945A>G (p.Glu315=) rs6856
NM_032667.6(BSCL2):c.975C>T (p.Ser325=) rs17850877

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