ClinVar for MedGen (Select 318593) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1696444	NM_001122955.4(BSCL2):c.1310C>T (p.Ala437Val)	BSCL2, HNRNPUL2-BSCL2 (A373V +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Hereditary spastic paraplegia 17 +3 more	GUncertain significance
Select item 1687147	NM_001122955.4(BSCL2):c.862dup (p.Arg288fs)	HNRNPUL2-BSCL2, BSCL2 (R224fs +1 more)	Duplication (non-coding transcript variant +1 more)	Congenital generalized lipodystrophy type 2	GLikely pathogenic
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
Select item 1647630	NM_001122955.4(BSCL2):c.933C>T (p.Ser311=)	BSCL2, HNRNPUL2-BSCL2	Single nucleotide variant (non-coding transcript variant +2 more)	Charcot-Marie-Tooth disease type 2 +5 more	GLikely benign
Select item 1639158	NM_001122955.4(BSCL2):c.487-20A>T	BSCL2, HNRNPUL2-BSCL2	Single nucleotide variant (intron variant)	Congenital generalized lipodystrophy type 2 +4 more	GBenign/Likely benign
Select item 1633139	NM_001122955.4(BSCL2):c.405-21TCC[2]	BSCL2, HNRNPUL2-BSCL2	Microsatellite (intron variant)	Charcot-Marie-Tooth disease type 2 +4 more	GLikely benign
Select item 1594642	NM_001122955.4(BSCL2):c.1269G>A (p.Thr423=)	BSCL2, HNRNPUL2-BSCL2	Single nucleotide variant (non-coding transcript variant +2 more)	Congenital generalized lipodystrophy type 2 +4 more	GLikely benign
Select item 1407816	NM_001122955.4(BSCL2):c.443T>C (p.Phe148Ser)	BSCL2, HNRNPUL2-BSCL2 (F84S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Neuronopathy, distal hereditary motor, type 5C +4 more	GUncertain significance
Select item 1320708	NM_001122955.4(BSCL2):c.1385C>A (p.Ser462Tyr)	BSCL2, HNRNPUL2-BSCL2 (S398Y +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Neuronopathy, distal hereditary motor, type 5C +4 more	GUncertain significance
Select item 1316091	NM_001122955.4(BSCL2):c.1264C>G (p.Leu422Val)	BSCL2, HNRNPUL2-BSCL2 (L358V +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Hereditary spastic paraplegia 17 +4 more	GUncertain significance
Select item 1246946	NM_001122955.4(BSCL2):c.1234+20G>A	BSCL2, HNRNPUL2-BSCL2	Single nucleotide variant (intron variant)	Severe neurodegenerative syndrome with lipodystrophy +5 more	GBenign/Likely benign
Select item 1118997	NM_001122955.4(BSCL2):c.1235-6G>A	BSCL2, HNRNPUL2-BSCL2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 17 +4 more	GLikely benign
Select item 1032981	NM_001122955.4(BSCL2):c.367A>T (p.Thr123Ser)	BSCL2, HNRNPUL2-BSCL2 (T123S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Congenital generalized lipodystrophy type 2 +4 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)	Neuronopathy, distal hereditary motor, type 5C +5 more	GUncertain significance
Select item 951620	NM_001122955.4(BSCL2):c.1300T>G (p.Ser434Ala)	BSCL2, HNRNPUL2-BSCL2 (S434A +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Charcot-Marie-Tooth disease type 2 +5 more	GUncertain significance
Select item 939665	NM_001122955.4(BSCL2):c.1071A>G (p.Pro357=)	BSCL2, HNRNPUL2-BSCL2 (Q246R)	Single nucleotide variant (non-coding transcript variant +2 more)	Hereditary spastic paraplegia 17 +5 more	GUncertain significance
Select item 879799	NM_001122955.4(BSCL2):c.986G>A (p.Arg329Gln)	BSCL2, HNRNPUL2-BSCL2 (R265Q +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Congenital generalized lipodystrophy type 2 +5 more	GUncertain significance
Select item 879798	NM_001122955.4(BSCL2):c.991C>T (p.Arg331Cys)	BSCL2, HNRNPUL2-BSCL2 (R331C +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Congenital generalized lipodystrophy type 2 +2 more	GUncertain significance
Select item 879418	NM_001122955.4(BSCL2):c.1200C>T (p.Ser400=)	BSCL2, HNRNPUL2-BSCL2	Single nucleotide variant (non-coding transcript variant +2 more)	Congenital generalized lipodystrophy type 2 +2 more	GConflicting classifications of pathogenicity
Select item 877793	NM_001122955.4(BSCL2):c.*58G>A	BSCL2, HNRNPUL2-BSCL2	Single nucleotide variant (non-coding transcript variant +1 more)	Neuronopathy, distal hereditary motor, type 5A +1 more	GUncertain significance
Select item 871579	NM_001122955.4(BSCL2):c.404G>C (p.Arg135Thr)	BSCL2, HNRNPUL2-BSCL2 (R71T +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Congenital generalized lipodystrophy type 2 +1 more	GConflicting classifications of pathogenicity
Select item 858508	NM_001122955.4(BSCL2):c.1097C>G (p.Thr366Ser)	BSCL2, HNRNPUL2-BSCL2 (L255V +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Charcot-Marie-Tooth disease type 2 +4 more	GUncertain significance
Select item 856620	NM_001122955.4(BSCL2):c.257G>A (p.Gly86Asp)	BSCL2, HNRNPUL2-BSCL2 (G86D +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Severe neurodegenerative syndrome with lipodystrophy +4 more	GUncertain significance
Select item 697875	NM_001122955.4(BSCL2):c.624G>A (p.Ser208=)	BSCL2, HNRNPUL2-BSCL2	Single nucleotide variant (non-coding transcript variant +1 more)	Neuronopathy, distal hereditary motor, type 5C +4 more	GLikely benign
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 678151	NM_001122955.4(BSCL2):c.765+69A>G	BSCL2, HNRNPUL2-BSCL2	Single nucleotide variant (intron variant)	Severe neurodegenerative syndrome with lipodystrophy +4 more	GBenign
Select item 665085	NM_001122955.4(BSCL2):c.1160A>G (p.Gln387Arg)	BSCL2, HNRNPUL2-BSCL2 (Q387R +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Severe neurodegenerative syndrome with lipodystrophy +4 more	GUncertain significance
Select item 660998	NM_001122955.4(BSCL2):c.630G>A (p.Ser210=)	BSCL2, HNRNPUL2-BSCL2	Single nucleotide variant (non-coding transcript variant +1 more)	Neuronopathy, distal hereditary motor, type 5C +4 more	GUncertain significance
Select item 660054	NM_001122955.4(BSCL2):c.1244C>T (p.Ser415Phe)	BSCL2, HNRNPUL2-BSCL2 (S351F +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Severe neurodegenerative syndrome with lipodystrophy +4 more	GUncertain significance
Select item 646533	NM_001122955.4(BSCL2):c.1299TTCTGC[3] (p.434SA[3])	BSCL2, HNRNPUL2-BSCL2	Microsatellite (non-coding transcript variant +2 more)	not provided +5 more	GUncertain significance
Select item 631661	NM_001122955.4(BSCL2):c.424A>G (p.Thr142Ala)	BSCL2, HNRNPUL2-BSCL2 (T142A +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Congenital generalized lipodystrophy type 2 +1 more	GUncertain significance
Select item 623295	NM_001122955.4(BSCL2):c.1235-2A>C	BSCL2, HNRNPUL2-BSCL2	Single nucleotide variant (splice acceptor variant)	Congenital generalized lipodystrophy type 2	GLikely pathogenic
Select item 623294	NM_001122955.4(BSCL2):c.776C>T (p.Thr259Ile)	BSCL2, HNRNPUL2-BSCL2 (T195I +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 617998	NM_001122955.4(BSCL2):c.934G>A (p.Val312Ile)	BSCL2, HNRNPUL2-BSCL2 (V248I +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Charcot-Marie-Tooth disease type 2 +6 more	GUncertain significance
Select item 595335	NM_001122955.4(BSCL2):c.806A>G (p.Lys269Arg)	BSCL2, HNRNPUL2-BSCL2 (K205R +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Charcot-Marie-Tooth disease type 2 +5 more	GUncertain significance
Select item 569480	NM_001122955.4(BSCL2):c.359A>G (p.Tyr120Cys)	BSCL2, HNRNPUL2-BSCL2 (Y56C +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Charcot-Marie-Tooth disease type 2 +5 more	GConflicting classifications of pathogenicity
Select item 567989	NM_001122955.4(BSCL2):c.1202G>A (p.Gly401Glu)	BSCL2, HNRNPUL2-BSCL2 (G337E +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Charcot-Marie-Tooth disease type 2 +6 more	GUncertain significance
Select item 567295	NM_001122955.4(BSCL2):c.773C>T (p.Pro258Leu)	BSCL2, HNRNPUL2-BSCL2 (P258L +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Charcot-Marie-Tooth disease type 2 +4 more	GUncertain significance
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)	Hereditary spastic paraplegia +5 more	GUncertain significance
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
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 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 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 515141	NM_001122955.4(BSCL2):c.810C>T (p.Arg270=)	BSCL2, HNRNPUL2-BSCL2	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +4 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 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 476816	NM_001122955.4(BSCL2):c.1069C>T (p.Pro357Ser)	BSCL2, HNRNPUL2-BSCL2 (P293S +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Congenital generalized lipodystrophy type 2 +6 more	GUncertain significance
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)	Charcot-Marie-Tooth disease type 2 +5 more	GUncertain significance
Select item 434545	NM_001122955.4(BSCL2):c.942dup (p.Leu315fs)	BSCL2, HNRNPUL2-BSCL2 (L315fs +1 more)	Duplication (non-coding transcript variant +2 more)	Congenital generalized lipodystrophy type 2	GPathogenic
Select item 429873	NM_001122955.4(BSCL2):c.62A>T (p.Gln21Leu)	BSCL2, GNG3 +1 more (Q21L)	Single nucleotide variant (genic upstream transcript variant +2 more)	Neuronopathy, distal hereditary motor, type 5C +4 more	GUncertain significance
Select item 424623	NM_001122955.4(BSCL2):c.844_854del (p.Ala282fs)	BSCL2, HNRNPUL2-BSCL2 (A218fs +1 more)	Deletion (non-coding transcript variant +1 more)	Congenital generalized lipodystrophy type 2 +1 more	GPathogenic/Likely pathogenic
Select item 411581	NM_001122955.4(BSCL2):c.1145C>T (p.Ser382Leu)	BSCL2, HNRNPUL2-BSCL2 (S382L +3 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Hereditary spastic paraplegia +8 more	GUncertain significance
Select item 393433	NM_001122955.4(BSCL2):c.199A>C (p.Asn67His)	BSCL2, HNRNPUL2-BSCL2 (N3H +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Charcot-Marie-Tooth disease type 2 +5 more	GUncertain significance
Select item 393431	NM_001122955.4(BSCL2):c.1299TTCTGC[1] (p.434SA[1])	BSCL2, HNRNPUL2-BSCL2	Microsatellite (non-coding transcript variant +2 more)	Inborn genetic diseases +7 more	GConflicting classifications of pathogenicity
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)	Hereditary spastic paraplegia 17 +7 more	GUncertain significance
Select item 386954	NM_001122955.4(BSCL2):c.88-19C>T	BSCL2, HNRNPUL2-BSCL2	Single nucleotide variant (intron variant)	not specified +4 more	GLikely benign
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)	Berardinelli-Seip congenital lipodystrophy	GUncertain significance
Select item 372118	NM_001122955.4(BSCL2):c.864-2A>C	BSCL2, HNRNPUL2-BSCL2	Single nucleotide variant (intron variant +1 more)	Congenital generalized lipodystrophy type 2	Gnot provided
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 372116	NM_001122955.4(BSCL2):c.385delinsGGA (p.Pro129fs)	BSCL2, HNRNPUL2-BSCL2 (P65fs +1 more)	Indel (non-coding transcript variant +1 more)	Berardinelli-Seip congenital lipodystrophy	GUncertain significance
Select item 372115	NM_001122955.4(BSCL2):c.346_347dup (p.Tyr117fs)	BSCL2, HNRNPUL2-BSCL2 (Y117fs +1 more)	Duplication (non-coding transcript variant +1 more)	Berardinelli-Seip congenital lipodystrophy	GUncertain significance
Select item 372114	NM_001122955.4(BSCL2):c.334C>T (p.Leu112Phe)	BSCL2, HNRNPUL2-BSCL2 (L112F +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 305191	NM_001122955.4(BSCL2):c.88-674G>T	BSCL2, HNRNPUL2-BSCL2	Single nucleotide variant (5 prime UTR variant +1 more)	Congenital generalized lipodystrophy type 2 +1 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
Select item 305189	NM_001122955.4(BSCL2):c.88-662C>A	BSCL2, HNRNPUL2-BSCL2	Single nucleotide variant (5 prime UTR variant +1 more)	Congenital generalized lipodystrophy type 2 +3 more	GConflicting classifications of pathogenicity
Select item 305188	NM_001122955.4(BSCL2):c.88-634G>C	BSCL2, HNRNPUL2-BSCL2	Single nucleotide variant (5 prime UTR variant +1 more)	Congenital generalized lipodystrophy type 2 +1 more	GLikely benign
Select item 305187	NM_001122955.4(BSCL2):c.88-620A>C	BSCL2, HNRNPUL2-BSCL2	Single nucleotide variant (5 prime UTR variant +1 more)	Congenital generalized lipodystrophy type 2 +1 more	GUncertain significance
Select item 305186	NM_001122955.4(BSCL2):c.88-613G>A	BSCL2, HNRNPUL2-BSCL2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 305185	NM_001122955.4(BSCL2):c.124C>T (p.Arg42Cys)	BSCL2, HNRNPUL2-BSCL2 (R42C)	Single nucleotide variant (non-coding transcript variant +2 more)	Congenital generalized lipodystrophy type 2 +3 more	GConflicting classifications of pathogenicity
Select item 305184	NM_001122955.4(BSCL2):c.131G>A (p.Gly44Asp)	BSCL2, HNRNPUL2-BSCL2 (G44D)	Single nucleotide variant (non-coding transcript variant +2 more)	Congenital generalized lipodystrophy type 2 +1 more	GUncertain significance
Select item 305183	NM_001122955.4(BSCL2):c.133G>A (p.Gly45Ser)	BSCL2, HNRNPUL2-BSCL2 (G45S)	Single nucleotide variant (non-coding transcript variant +2 more)	Congenital generalized lipodystrophy type 2 +6 more	GBenign/Likely benign
Select item 305182	NM_001122955.4(BSCL2):c.184C>T (p.Leu62Phe)	BSCL2, HNRNPUL2-BSCL2 (L62F)	Single nucleotide variant (non-coding transcript variant +2 more)	Neuronopathy, distal hereditary motor, type 5A +1 more	GUncertain significance
Select item 305181	NM_001122955.4(BSCL2):c.544C>A (p.Pro182Thr)	BSCL2, HNRNPUL2-BSCL2 (P118T +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Congenital generalized lipodystrophy type 2 +1 more	GUncertain significance
Select item 305180	NM_001122955.4(BSCL2):c.615C>T (p.Ser205=)	BSCL2, HNRNPUL2-BSCL2	Single nucleotide variant (non-coding transcript variant +1 more)	Congenital generalized lipodystrophy type 2 +4 more	GConflicting classifications of pathogenicity
Select item 305179	NM_001122955.4(BSCL2):c.745G>T (p.Ala249Ser)	HNRNPUL2-BSCL2, BSCL2 (A249S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Charcot-Marie-Tooth disease type 2 +2 more	GUncertain significance
Select item 305178	NM_001122955.4(BSCL2):c.823G>A (p.Gly275Arg)	BSCL2, HNRNPUL2-BSCL2 (G211R +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Charcot-Marie-Tooth disease type 2 +4 more	GConflicting classifications of pathogenicity
Select item 305177	NM_001122955.4(BSCL2):c.845C>T (p.Ala282Val)	BSCL2, HNRNPUL2-BSCL2 (A218V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Charcot-Marie-Tooth disease type 2 +6 more	GConflicting classifications of pathogenicity
Select item 305176	NM_001122955.4(BSCL2):c.861C>T (p.Leu287=)	BSCL2, HNRNPUL2-BSCL2	Single nucleotide variant (non-coding transcript variant +1 more)	Neuronopathy, distal hereditary motor, type 5A +5 more	GConflicting classifications of pathogenicity
Select item 305175	NM_001122955.4(BSCL2):c.939C>T (p.Ile313=)	BSCL2, HNRNPUL2-BSCL2	Single nucleotide variant (non-coding transcript variant +2 more)	Charcot-Marie-Tooth disease type 2 +5 more	GBenign/Likely benign
Select item 305174	NM_001122955.4(BSCL2):c.1054A>G (p.Ile352Val)	BSCL2, HNRNPUL2-BSCL2 (I288V +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Congenital generalized lipodystrophy type 2 +1 more	GUncertain significance
Select item 305173	NM_001122955.4(BSCL2):c.1234+14T>G	BSCL2, HNRNPUL2-BSCL2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2 +2 more	GConflicting classifications of pathogenicity
Select item 305172	NM_001122955.4(BSCL2):c.*49T>G	HNRNPUL2-BSCL2, BSCL2	Single nucleotide variant (non-coding transcript variant +1 more)	Congenital generalized lipodystrophy type 2 +1 more	GUncertain significance
Select item 289075	NM_001122955.4(BSCL2):c.968G>T (p.Trp323Leu)	BSCL2, HNRNPUL2-BSCL2 (W323L +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Neuronopathy, distal hereditary motor, type 5C +6 more	GUncertain significance
Select item 257500	NM_001122955.4(BSCL2):c.766-49T>C	BSCL2, HNRNPUL2-BSCL2	Single nucleotide variant (intron variant)	not provided +5 more	GBenign
Select item 257499	NM_001122955.4(BSCL2):c.765+15C>T	BSCL2, HNRNPUL2-BSCL2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2 +4 more	GBenign
Select item 257497	NM_001122955.4(BSCL2):c.486+11G>T	BSCL2, HNRNPUL2-BSCL2	Single nucleotide variant (intron variant)	not specified +7 more	GBenign
Select item 246599	NM_001122955.4(BSCL2):c.448G>A (p.Val150Ile)	BSCL2, HNRNPUL2-BSCL2 (V150I +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
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 246509	NM_001122955.4(BSCL2):c.299G>T (p.Cys100Phe)	BSCL2, HNRNPUL2-BSCL2 (C100F +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary spastic paraplegia 17 +6 more	GUncertain significance
Select item 245977	NM_001122955.4(BSCL2):c.1006-2A>G	BSCL2, HNRNPUL2-BSCL2	Single nucleotide variant (splice acceptor variant)	Congenital generalized lipodystrophy type 2 +1 more	GPathogenic/Likely pathogenic
Select item 245942	NM_001122955.4(BSCL2):c.1168G>A (p.Glu390Lys)	BSCL2, HNRNPUL2-BSCL2 (E326K +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified +7 more	GUncertain significance
Select item 245798	NM_001122955.4(BSCL2):c.1201G>A (p.Gly401Arg)	BSCL2, HNRNPUL2-BSCL2 (G337R +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Congenital generalized lipodystrophy type 2 +4 more	GUncertain significance
Select item 241725	NM_001122955.4(BSCL2):c.1034G>A (p.Arg345Gln)	BSCL2, HNRNPUL2-BSCL2 (R281Q +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +6 more	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 210545	NM_001122955.4(BSCL2):c.1031C>T (p.Ser344Phe)	BSCL2, HNRNPUL2-BSCL2 (S280F +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +6 more	GConflicting classifications of pathogenicity
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)	Inborn genetic diseases +5 more	GConflicting classifications of pathogenicity
Select item 155731	NM_001122955.4(BSCL2):c.1167C>T (p.Ser389=)	BSCL2, HNRNPUL2-BSCL2 (P278L)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth disease type 2 +2 more	GLikely benign
Select item 143858	NM_001122955.4(BSCL2):c.985C>T (p.Arg329Ter)	BSCL2, HNRNPUL2-BSCL2 (R329*)	Single nucleotide variant (non-coding transcript variant +2 more)	Congenital generalized lipodystrophy type 2 +1 more	GPathogenic
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)	Hereditary spastic paraplegia +8 more	GBenign

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