C2931276[trait identifier] AND "GeneReviews"[submitter] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 372120	NM_001122955.4(BSCL2):c.974dup (p.Ile326fs)	BSCL2, HNRNPUL2-BSCL2 (I326fs +1 more)	Duplication (non-coding transcript variant +2 more)	Congenital generalized lipodystrophy type 2 +6 more	GPathogenic
Select item 372119	NM_001122955.4(BSCL2):c.864-2A>G	BSCL2, HNRNPUL2-BSCL2	Single nucleotide variant (intron variant +1 more)	Congenital generalized lipodystrophy type 2 +3 more	GPathogenic
Select item 4541	NM_001122955.4(BSCL2):c.863+5G>A	BSCL2, HNRNPUL2-BSCL2	Single nucleotide variant (intron variant)	Neuronopathy, distal hereditary motor, type 5C +4 more	GUncertain significance
Select item 4539	NM_001122955.4(BSCL2):c.826G>C (p.Ala276Pro)	BSCL2, HNRNPUL2-BSCL2 (A212P +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Congenital generalized lipodystrophy type 2 +4 more	GPathogenic
Select item 4536	NM_001122955.4(BSCL2):c.517dup (p.Thr173fs)	BSCL2, HNRNPUL2-BSCL2 (T109fs +1 more)	Duplication (non-coding transcript variant +1 more)	Charcot-Marie-Tooth disease type 2 +4 more	GPathogenic
Select item 1706474	NM_001122955.4(BSCL2):c.479G>A (p.Arg160His)	BSCL2, HNRNPUL2-BSCL2 (R160H +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Neuronopathy, distal hereditary motor, type 5C +4 more	GUncertain significance
Select item 476810	NM_001122955.4(BSCL2):c.461C>G (p.Ser154Trp)	BSCL2, HNRNPUL2-BSCL2 (S154W +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Charcot-Marie-Tooth disease type 2	GPathogenic
Select item 4544	NM_001122955.4(BSCL2):c.461C>T (p.Ser154Leu)	BSCL2, HNRNPUL2-BSCL2 (S90L +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Charcot-Marie-Tooth disease type 2 +3 more	GPathogenic/Likely pathogenic
Select item 4543	NM_001122955.4(BSCL2):c.455A>G (p.Asn152Ser)	BSCL2, HNRNPUL2-BSCL2 (N88S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Charcot-Marie-Tooth disease type 2 +8 more	GPathogenic