"Laboratory of Metabolic Disorders, Peking University First Hospital"[ - ClinVar - NCBI

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Items: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 549714	NM_001122955.4(BSCL2):c.759_760del (p.Asn254fs)	BSCL2, HNRNPUL2-BSCL2 (N190fs +1 more)	Microsatellite (non-coding transcript variant +1 more)	Congenital generalized lipodystrophy type 2	GPathogenic
Select item 549715	NM_001122955.4(BSCL2):c.737_738insCCG (p.Glu246delinsAspArg)	BSCL2, HNRNPUL2-BSCL2	Insertion (non-coding transcript variant +1 more)	Congenital generalized lipodystrophy type 2	GLikely pathogenic
Select item 549713	NM_001122955.4(BSCL2):c.404+1G>T	BSCL2, HNRNPUL2-BSCL2	Single nucleotide variant (splice donor variant)	Congenital generalized lipodystrophy type 2	GPathogenic
Select item 549716	NM_001122955.4(BSCL2):c.402C>G (p.Tyr134Ter)	BSCL2, HNRNPUL2-BSCL2 (Y134* +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Congenital generalized lipodystrophy type 2	GPathogenic

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