ClinVar Miner

List of variants reported as pathogenic for Berardinelli-Seip congenital lipodystrophy by Genetic Services Laboratory, University of Chicago

Included ClinVar conditions (9):

Berardinelli-Seip congenital lipodystrophy
Congenital generalized lipodystrophy type 1
Congenital generalized lipodystrophy type 2
Congenital generalized lipodystrophy type 2; Hereditary spastic paraplegia 17; Severe neurodegenerative syndrome with lipodystrophy; Neuronopathy, distal hereditary motor, type 5C
Congenital generalized lipodystrophy type 2; Neuronopathy, distal hereditary motor, type 5A; Hereditary spastic paraplegia 17; Severe neurodegenerative syndrome with lipodystrophy
Congenital generalized lipodystrophy type 2; Severe neurodegenerative syndrome with lipodystrophy
Congenital generalized lipodystrophy type 3
Congenital generalized lipodystrophy type 3; Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome; Pulmonary hypertension, primary, 3
Congenital generalized lipodystrophy type 3; Pulmonary hypertension, primary, 3

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_006412.4(AGPAT2):c.589-2A>G	rs116807569	0.00043
NM_006412.4(AGPAT2):c.406G>A (p.Gly136Arg)	rs797045222	0.00003
NM_001122955.4(BSCL2):c.1015C>T (p.Arg339Ter)	rs137852974
NM_001122955.4(BSCL2):c.942dup (p.Leu315fs)	rs1554983076
NM_001122955.4(BSCL2):c.974dup (p.Ile326fs)	rs749890533

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