ClinVar for MedGen (Select 419034) - ClinVar

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Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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)	Charcot-Marie-Tooth disease type 2	GUncertain significance
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 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 1030050	NM_001122955.4(BSCL2):c.629C>T (p.Ser210Leu)	BSCL2, HNRNPUL2-BSCL2 (S210L +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary spastic paraplegia 17	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 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 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 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 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 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 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 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)	Monogenic diabetes +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 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 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 257497	NM_001122955.4(BSCL2):c.486+11G>T	BSCL2, HNRNPUL2-BSCL2	Single nucleotide variant (intron variant)	not specified +7 more	GBenign
Select item 252929	NM_138927.4(SON):c.5753_5756del (p.Val1918fs)	SON (V1918fs)	Deletion (frameshift variant +2 more)	See cases +5 more	GPathogenic/Likely pathogenic
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 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 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 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 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 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 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)	not specified +8 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)	Hereditary spastic paraplegia 17 +4 more	GPathogenic

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Items: 55