"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "HNRNPUL2-BSCL2 - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 193938	NM_001122955.4(BSCL2):c.1367G>A (p.Arg456His)	BSCL2, HNRNPUL2-BSCL2 (R456H +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 393431	NM_001122955.4(BSCL2):c.1299TTCTGC[1] (p.434SA[1])	BSCL2, HNRNPUL2-BSCL2	Microsatellite (non-coding transcript variant +2 more)	Monogenic diabetes +7 more	GConflicting classifications of pathogenicity
Select item 696445	NM_001122955.4(BSCL2):c.1207GAG[1] (p.Glu404del)	BSCL2, HNRNPUL2-BSCL2 (E340del +2 more)	Microsatellite (inframe_deletion +2 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 476819	NM_001122955.4(BSCL2):c.1147G>A (p.Gly383Arg)	BSCL2, HNRNPUL2-BSCL2 (G319R +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Congenital generalized lipodystrophy type 2 +6 more	GUncertain significance
Select item 199176	NM_001122955.4(BSCL2):c.1100C>T (p.Pro367Leu)	BSCL2, HNRNPUL2-BSCL2 (P367L +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +6 more	GConflicting classifications of pathogenicity
Select item 851343	NM_001122955.4(BSCL2):c.940G>A (p.Val314Met)	BSCL2, HNRNPUL2-BSCL2 (V250M +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Charcot-Marie-Tooth disease type 2 +1 more	GUncertain significance
Select item 411579	NM_001122955.4(BSCL2):c.923C>T (p.Thr308Ile)	BSCL2, HNRNPUL2-BSCL2 (T244I +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Charcot-Marie-Tooth disease type 2 +1 more	GUncertain significance
Select item 952139	NM_001122955.4(BSCL2):c.835C>T (p.Arg279Cys)	BSCL2, HNRNPUL2-BSCL2 (R215C +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Charcot-Marie-Tooth disease type 2 +1 more	GUncertain significance
Select item 1694051	NM_001122955.4(BSCL2):c.769G>C (p.Val257Leu)	BSCL2, HNRNPUL2-BSCL2 (V193L +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 246574	NM_001122955.4(BSCL2):c.745G>A (p.Ala249Thr)	BSCL2, HNRNPUL2-BSCL2 (A185T +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 700938	NM_001122955.4(BSCL2):c.532C>G (p.Leu178Val)	BSCL2, HNRNPUL2-BSCL2 (L114V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Charcot-Marie-Tooth disease type 2 +1 more	GConflicting classifications of pathogenicity
Select item 1694052	NM_001122955.4(BSCL2):c.512G>T (p.Arg171Leu)	BSCL2, HNRNPUL2-BSCL2 (R107L +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Charcot-Marie-Tooth disease type 2 +1 more	GUncertain significance
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 660571	NM_001122955.4(BSCL2):c.285T>G (p.Phe95Leu)	BSCL2, HNRNPUL2-BSCL2 (F31L +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +2 more	GUncertain significance