C1720863[trait identifier] AND "Mendelics"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 143858	NM_001122955.4(BSCL2):c.985C>T (p.Arg329Ter)	HNRNPUL2-BSCL2, BSCL2 (R329*)	Single nucleotide variant (non-coding transcript variant +2 more)	Charcot-Marie-Tooth disease type 2 +1 more	GPathogenic
Select item 372117	NM_001122955.4(BSCL2):c.766-2A>G	BSCL2, HNRNPUL2-BSCL2	Single nucleotide variant (splice acceptor variant)	Congenital generalized lipodystrophy type 2	GPathogenic
Select item 4537	NM_001122955.4(BSCL2):c.604C>T (p.Arg202Ter)	BSCL2, HNRNPUL2-BSCL2 (R138* +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Neuronopathy, distal hereditary motor, type 5C +2 more	GPathogenic
Select item 4536	NM_001122955.4(BSCL2):c.517dup (p.Thr173fs)	BSCL2, HNRNPUL2-BSCL2 (T109fs +1 more)	Duplication (frameshift variant +1 more)	Congenital generalized lipodystrophy type 2 +4 more	GPathogenic
Select item 4532	NM_001122955.4(BSCL2):c.493_494insAA (p.Met165fs)	BSCL2, HNRNPUL2-BSCL2 (M101fs +1 more)	Insertion (non-coding transcript variant +1 more)	Congenital generalized lipodystrophy type 2	GPathogenic
Select item 1685254	NM_001122955.4(BSCL2):c.486+1G>T	BSCL2, HNRNPUL2-BSCL2	Single nucleotide variant (splice donor variant)	Congenital generalized lipodystrophy type 2	GLikely pathogenic

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