"Genome Diagnostics Laboratory, The Hospital for Sick Children"[submit - ClinVar

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Items: 22

	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)	Charcot-Marie-Tooth disease type 2 +5 more	GConflicting classifications of pathogenicity
Select item 566241	NM_001122955.4(BSCL2):c.1298C>T (p.Ala433Val)	BSCL2, HNRNPUL2-BSCL2 (A369V +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Neuronopathy, distal hereditary motor, type 5A +5 more	GUncertain significance
Select item 387999	NM_001122955.4(BSCL2):c.1282C>T (p.Pro428Ser)	BSCL2, HNRNPUL2-BSCL2 (P364S +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Charcot-Marie-Tooth disease type 2 +7 more	GUncertain significance
Select item 128532	NM_001122955.4(BSCL2):c.1280T>C (p.Leu427Pro)	BSCL2, HNRNPUL2-BSCL2 (L427P +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Congenital generalized lipodystrophy type 2 +10 more	GConflicting classifications of pathogenicity
Select item 509292	NM_001122955.4(BSCL2):c.1234+7G>A	HNRNPUL2-BSCL2, BSCL2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia +5 more	GConflicting classifications of pathogenicity
Select item 411581	NM_001122955.4(BSCL2):c.1145C>T (p.Ser382Leu)	HNRNPUL2-BSCL2, BSCL2 (S382L +3 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Charcot-Marie-Tooth disease type 2 +8 more	GUncertain significance
Select item 128533	NM_001122955.4(BSCL2):c.1137A>G (p.Glu379=)	BSCL2, HNRNPUL2-BSCL2 (K268R)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided +8 more	GBenign
Select item 1027334	NM_001122955.4(BSCL2):c.1120G>C (p.Asp374His)	BSCL2, HNRNPUL2-BSCL2 (D310H +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary spastic paraplegia +1 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)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 1344244	NM_001122955.4(BSCL2):c.1028A>G (p.Asn343Ser)	BSCL2, HNRNPUL2-BSCL2 (I232V +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Charcot-Marie-Tooth disease type 2 +1 more	GUncertain significance
Select item 1024491	NM_001122955.4(BSCL2):c.1022G>A (p.Arg341Lys)	BSCL2, HNRNPUL2-BSCL2 (E230K +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Charcot-Marie-Tooth disease type 2 +5 more	GUncertain significance
Select item 4541	NM_001122955.4(BSCL2):c.863+5G>A	BSCL2, HNRNPUL2-BSCL2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 697352	NM_001122955.4(BSCL2):c.846G>A (p.Ala282=)	BSCL2, HNRNPUL2-BSCL2	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary spastic paraplegia +1 more	GConflicting classifications of pathogenicity
Select item 476815	NM_001122955.4(BSCL2):c.844G>A (p.Ala282Thr)	BSCL2, HNRNPUL2-BSCL2 (A282T +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Congenital generalized lipodystrophy type 2 +5 more	GUncertain significance
Select item 1344243	NM_001122955.4(BSCL2):c.631-8C>T	BSCL2, HNRNPUL2-BSCL2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 220467	NM_001122955.4(BSCL2):c.588C>T (p.Cys196=)	BSCL2, HNRNPUL2-BSCL2	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary spastic paraplegia +6 more	GConflicting classifications of pathogenicity
Select item 1344242	NM_001122955.4(BSCL2):c.507G>A (p.Pro169=)	BSCL2, HNRNPUL2-BSCL2	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary spastic paraplegia +1 more	GLikely benign
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)	Hereditary spastic paraplegia 17 +8 more	GPathogenic
Select item 1344241	NM_001122955.4(BSCL2):c.359A>T (p.Tyr120Phe)	BSCL2, HNRNPUL2-BSCL2 (Y120F +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary spastic paraplegia +2 more	GUncertain significance
Select item 1344245	NM_001122955.4(BSCL2):c.281A>T (p.Gln94Leu)	BSCL2, HNRNPUL2-BSCL2 (Q30L +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary spastic paraplegia	GUncertain significance
Select item 305189	NM_001122955.4(BSCL2):c.88-662C>A	BSCL2, HNRNPUL2-BSCL2	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary spastic paraplegia +3 more	GConflicting classifications of pathogenicity
Select item 305190	NM_001122955.4(BSCL2):c.88-663G>A	BSCL2, HNRNPUL2-BSCL2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity

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Items: 22