"GeneDx"[submitter] AND "BSCL2"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59755	GRCh38/hg38 11q12.3(chr11:62452571-62862781)x3	AHNAK, B3GAT3 +95 more	Copy number gain	See cases	GPathogenic
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 3368223	NM_001122955.4(BSCL2):c.1379C>T (p.Ser460Phe)	BSCL2, HNRNPUL2-BSCL2 (S396F +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 1700319	NM_001122955.4(BSCL2):c.1376G>C (p.Cys459Ser)	BSCL2, HNRNPUL2-BSCL2 (C395S +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided +1 more	GUncertain significance
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 388768	NM_001122955.4(BSCL2):c.1361G>T (p.Arg454Leu)	BSCL2, HNRNPUL2-BSCL2 (R390L +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 411580	NM_001122955.4(BSCL2):c.1354G>T (p.Ala452Ser)	BSCL2, HNRNPUL2-BSCL2 (A452S +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases +3 more	GUncertain significance
Select item 234682	NM_001122955.4(BSCL2):c.1325C>T (p.Thr442Ile)	BSCL2, HNRNPUL2-BSCL2 (T378I +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	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 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 234752	NM_001122955.4(BSCL2):c.1309G>C (p.Ala437Pro)	BSCL2, HNRNPUL2-BSCL2 (A437P +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Charcot-Marie-Tooth disease type 2 +1 more	GUncertain significance
Select item 943575	NM_001122955.4(BSCL2):c.1282CCTGCT[4] (p.428PA[4])	BSCL2, HNRNPUL2-BSCL2	Microsatellite (inframe_insertion +2 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 241723	NM_001122955.4(BSCL2):c.1288C>T (p.Pro430Ser)	BSCL2, HNRNPUL2-BSCL2 (P366S +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided +2 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 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)	Hereditary spastic paraplegia +10 more	GConflicting classifications of pathogenicity
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 509502	NM_001122955.4(BSCL2):c.1234+19C>T	BSCL2, HNRNPUL2-BSCL2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2 +1 more	GLikely benign
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 2662203	NM_001122955.4(BSCL2):c.1234+4A>C	BSCL2, HNRNPUL2-BSCL2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
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 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 450639	NM_001122955.4(BSCL2):c.1193C>G (p.Pro398Arg)	BSCL2, HNRNPUL2-BSCL2 (P334R +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1329585	NM_001122955.4(BSCL2):c.1179A>T (p.Lys393Asn)	BSCL2, HNRNPUL2-BSCL2 (K329N +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
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 1272580	NM_001122955.4(BSCL2):c.1153+26C>T	BSCL2, HNRNPUL2-BSCL2	Single nucleotide variant (intron variant)	not provided	GBenign
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 1413285	NM_001122955.4(BSCL2):c.1144T>C (p.Ser382Pro)	BSCL2, HNRNPUL2-BSCL2 (S382P +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided +1 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)	Hereditary spastic paraplegia +8 more	GBenign
Select item 800271	NM_001122955.4(BSCL2):c.1102C>A (p.Gln368Lys)	BSCL2, HNRNPUL2-BSCL2 (Q304K +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
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 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 220174	NM_001122955.4(BSCL2):c.1049G>A (p.Arg350Gln)	HNRNPUL2-BSCL2, BSCL2 (R350Q +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Charcot-Marie-Tooth disease 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 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)	Congenital generalized lipodystrophy type 2 +6 more	GConflicting classifications of pathogenicity
Select item 381712	NM_001122955.4(BSCL2):c.1017A>G (p.Arg339=)	BSCL2, HNRNPUL2-BSCL2 (E228G)	Single nucleotide variant (non-coding transcript variant +2 more)	Charcot-Marie-Tooth disease type 2 +2 more	GLikely benign
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 381311	NM_001122955.4(BSCL2):c.1006-8C>T	BSCL2, HNRNPUL2-BSCL2	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 257496	NM_001122955.4(BSCL2):c.1006-50T>G	BSCL2, HNRNPUL2-BSCL2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 210544	NM_001122955.4(BSCL2):c.1005+4G>T	BSCL2, HNRNPUL2-BSCL2	Single nucleotide variant (intron variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 576407	NM_001122955.4(BSCL2):c.992G>A (p.Arg331His)	BSCL2, HNRNPUL2-BSCL2 (R267H +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Charcot-Marie-Tooth disease type 2 +2 more	GConflicting classifications of pathogenicity
Select item 1315799	NM_001122955.4(BSCL2):c.973G>A (p.Gly325Ser)	BSCL2, HNRNPUL2-BSCL2 (G261S +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Charcot-Marie-Tooth disease 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 2581975	NM_001122955.4(BSCL2):c.943C>T (p.Leu315Phe)	BSCL2, HNRNPUL2-BSCL2 (L251F +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
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 1806645	NM_001122955.4(BSCL2):c.938T>C (p.Ile313Thr)	BSCL2, HNRNPUL2-BSCL2 (I249T +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 1187066	NM_001122955.4(BSCL2):c.907G>A (p.Val303Ile)	BSCL2, HNRNPUL2-BSCL2 (V239I +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 386388	NM_001122955.4(BSCL2):c.870G>C (p.Leu290=)	BSCL2, HNRNPUL2-BSCL2	Single nucleotide variant (non-coding transcript variant +2 more)	not specified +2 more	GLikely benign
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 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 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 2633479	NM_001122955.4(BSCL2):c.829T>C (p.Tyr277His)	BSCL2, HNRNPUL2-BSCL2 (Y213H +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 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 1707735	NM_001122955.4(BSCL2):c.773C>G (p.Pro258Arg)	BSCL2, HNRNPUL2-BSCL2 (P194R +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 390155	NM_001122955.4(BSCL2):c.770T>A (p.Val257Glu)	HNRNPUL2-BSCL2, BSCL2 (V193E +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3366150	NM_001122955.4(BSCL2):c.769G>A (p.Val257Met)	BSCL2, HNRNPUL2-BSCL2 (V193M +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	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 677575	NM_001122955.4(BSCL2):c.766-79G>T	BSCL2, HNRNPUL2-BSCL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 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 1678788	NM_001122955.4(BSCL2):c.765G>A (p.Ser255=)	BSCL2, HNRNPUL2-BSCL2	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 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 430032	NM_001122955.4(BSCL2):c.680TCT[1] (p.Phe228del)	BSCL2, HNRNPUL2-BSCL2 (F164del +1 more)	Microsatellite (inframe_deletion +1 more)	Charcot-Marie-Tooth disease type 2 +1 more	GUncertain significance
Select item 387079	NM_001122955.4(BSCL2):c.660C>T (p.Leu220=)	BSCL2, HNRNPUL2-BSCL2	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +1 more	GLikely benign
Select item 3373097	NM_001122955.4(BSCL2):c.653A>T (p.Asp218Val)	BSCL2, HNRNPUL2-BSCL2 (D154V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1707025	NM_001122955.4(BSCL2):c.634A>G (p.Met212Val)	HNRNPUL2-BSCL2, BSCL2 (M148V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 446898	NM_001122955.4(BSCL2):c.631G>A (p.Val211Met)	BSCL2, HNRNPUL2-BSCL2 (V147M +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +1 more	GUncertain significance
Select item 805503	NM_001122955.4(BSCL2):c.631-6C>A	BSCL2, HNRNPUL2-BSCL2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1320704	NM_001122955.4(BSCL2):c.631-10C>G	HNRNPUL2-BSCL2, BSCL2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1208286	NM_001122955.4(BSCL2):c.630+64G>T	BSCL2, HNRNPUL2-BSCL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 511345	NM_001122955.4(BSCL2):c.630+11G>T	BSCL2, HNRNPUL2-BSCL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1804458	NM_001122955.4(BSCL2):c.618TTC[1] (p.Ser208del)	BSCL2, HNRNPUL2-BSCL2 (S144del +1 more)	Microsatellite (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 387196	NM_001122955.4(BSCL2):c.621T>C (p.Ser207=)	BSCL2, HNRNPUL2-BSCL2	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +1 more	GLikely benign
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 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 246212	NM_001122955.4(BSCL2):c.487-14G>A	BSCL2, HNRNPUL2-BSCL2	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 674182	NM_001122955.4(BSCL2):c.487-34A>T	BSCL2, HNRNPUL2-BSCL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 678230	NM_001122955.4(BSCL2):c.487-129G>T	BSCL2, HNRNPUL2-BSCL2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264384	NM_001122955.4(BSCL2):c.487-255C>T	BSCL2, HNRNPUL2-BSCL2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 677314	NM_001122955.4(BSCL2):c.486+182C>T	BSCL2, HNRNPUL2-BSCL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 677263	NM_001122955.4(BSCL2):c.486+123G>A	BSCL2, HNRNPUL2-BSCL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 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 448995	NM_001122955.4(BSCL2):c.457G>A (p.Val153Ile)	BSCL2, HNRNPUL2-BSCL2 (V153I +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
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)	not specified +8 more	GPathogenic
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 451024	NM_001122955.4(BSCL2):c.445C>G (p.Pro149Ala)	HNRNPUL2-BSCL2, BSCL2 (P149A +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 387300	NM_001122955.4(BSCL2):c.432A>T (p.Ser144=)	BSCL2, HNRNPUL2-BSCL2	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +2 more	GLikely benign
Select item 246596	NM_001122955.4(BSCL2):c.420C>T (p.Ser140=)	BSCL2, HNRNPUL2-BSCL2	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 245687	NM_001122955.4(BSCL2):c.409G>A (p.Asp137Asn)	BSCL2, HNRNPUL2-BSCL2 (D137N +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GUncertain significance
Select item 1418830	NM_001122955.4(BSCL2):c.405-11A>G	BSCL2, HNRNPUL2-BSCL2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2 +1 more	GConflicting classifications of pathogenicity
Select item 1194318	NM_001122955.4(BSCL2):c.405-205_405-202del	BSCL2, HNRNPUL2-BSCL2	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1222631	NM_001122955.4(BSCL2):c.404+207dup	BSCL2, HNRNPUL2-BSCL2	Duplication (intron variant)	not provided	GBenign
Select item 1254461	NM_001122955.4(BSCL2):c.404+225del	BSCL2, HNRNPUL2-BSCL2	Deletion (intron variant)	not provided	GBenign
Select item 1208299	NM_001122955.4(BSCL2):c.404+207A>T	BSCL2, HNRNPUL2-BSCL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 383582	NM_001122955.4(BSCL2):c.404+15C>G	HNRNPUL2-BSCL2, BSCL2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2 +1 more	GLikely benign
Select item 1320470	NM_001122955.4(BSCL2):c.325T>C (p.Ser109Pro)	BSCL2, HNRNPUL2-BSCL2 (S109P +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 423315	NM_001122955.4(BSCL2):c.311T>A (p.Leu104His)	BSCL2, HNRNPUL2-BSCL2 (L104H +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Charcot-Marie-Tooth disease type 2 +1 more	GUncertain significance
Select item 512376	NM_001122955.4(BSCL2):c.306C>T (p.Ile102=)	HNRNPUL2-BSCL2, BSCL2	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +1 more	GLikely benign

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