List of variants in gene combination BSCL2, HNRNPUL2-BSCL2 reported as uncertain significance for Congenital generalized lipodystrophy type 2

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 30

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HGVS	dbSNP	gnomAD frequency
NM_001122955.4(BSCL2):c.88-674G>T	rs549450153	0.00088
NM_001122955.4(BSCL2):c.124C>T (p.Arg42Cys)	rs201493373	0.00061
NM_001122955.4(BSCL2):c.823G>A (p.Gly275Arg)	rs151018278	0.00036
NM_001122955.4(BSCL2):c.131G>A (p.Gly44Asp)	rs769536524	0.00019
NM_001122955.4(BSCL2):c.615C>T (p.Ser205=)	rs140208002	0.00019
NM_001122955.4(BSCL2):c.861C>T (p.Leu287=)	rs370926100	0.00016
NM_001122955.4(BSCL2):c.844G>A (p.Ala282Thr)	rs190842600	0.00014
NM_001122955.4(BSCL2):c.448G>A (p.Val150Ile)	rs149412531	0.00013
NM_001122955.4(BSCL2):c.588C>T (p.Cys196=)	rs369806785	0.00011
NM_001122955.4(BSCL2):c.*49T>G	rs368144792	0.00010
NM_001122955.4(BSCL2):c.*58G>A	rs755714656	0.00010
NM_001122955.4(BSCL2):c.745G>A (p.Ala249Thr)	rs10776	0.00010
NM_001122955.4(BSCL2):c.1202G>A (p.Gly401Glu)	rs767463971	0.00008
NM_001122955.4(BSCL2):c.1201G>A (p.Gly401Arg)	rs138964424	0.00005
NM_001122955.4(BSCL2):c.1234+14T>G	rs778380128	0.00004
NM_001122955.4(BSCL2):c.184C>T (p.Leu62Phe)	rs756907468	0.00003
NM_001122955.4(BSCL2):c.1200C>T (p.Ser400=)	rs766492897	0.00002
NM_001122955.4(BSCL2):c.199A>C (p.Asn67His)	rs1057524897	0.00002
NM_001122955.4(BSCL2):c.986G>A (p.Arg329Gln)	rs771322168	0.00002
NM_001122955.4(BSCL2):c.1054A>G (p.Ile352Val)	rs775718358	0.00001
NM_001122955.4(BSCL2):c.991C>T (p.Arg331Cys)	rs773431994	0.00001
NM_001122955.4(BSCL2):c.1207GAG[1] (p.Glu404del)	rs556562410
NM_001122955.4(BSCL2):c.1299TTCTGC[1] (p.434SA[1])	rs747175358
NM_001122955.4(BSCL2):c.367A>T (p.Thr123Ser)	rs1349958377
NM_001122955.4(BSCL2):c.404G>C (p.Arg135Thr)	rs2083508651
NM_001122955.4(BSCL2):c.424A>G (p.Thr142Ala)	rs1565150951
NM_001122955.4(BSCL2):c.544C>A (p.Pro182Thr)	rs886048442
NM_001122955.4(BSCL2):c.745G>T (p.Ala249Ser)	rs10776
NM_001122955.4(BSCL2):c.810C>T (p.Arg270=)	rs998498207
NM_001122955.4(BSCL2):c.88-620A>C	rs886048443

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