ClinVar Miner

List of variants reported as pathogenic for Berardinelli-Seip congenital lipodystrophy by Laboratory of Metabolic Disorders, Peking University First Hospital

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_001122955.4(BSCL2):c.402C>G (p.Tyr134Ter)	rs557044760
NM_001122955.4(BSCL2):c.404+1G>T	rs1565152616
NM_001122955.4(BSCL2):c.759_760del (p.Asn254fs)	rs1565144681
NM_006412.4(AGPAT2):c.513del (p.Glu172fs)	rs1564290914
NM_006412.4(AGPAT2):c.622_626del (p.Ser208fs)	rs1564290079

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