ClinVar for MedGen (Select 1723540) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2444135	NM_002047.4(GARS1):c.1004C>T (p.Ser335Phe)	GARS1 (S281F +1 more)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, type 5A	GUncertain significance
Select item 1994910	NM_002047.4(GARS1):c.376G>A (p.Asp126Asn)	GARS1 (D126N +1 more)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, type 5A +1 more	GUncertain significance
Select item 1992412	NM_002047.4(GARS1):c.2074A>G (p.Met692Val)	GARS1 (M638V +1 more)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, type 5A	GUncertain significance
Select item 1709762	NM_002047.4(GARS1):c.977T>C (p.Ile326Thr)	GARS1 (I272T +1 more)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, type 5A	GUncertain significance
Select item 1326212	NM_002047.4(GARS1):c.1015G>A (p.Gly339Arg)	GARS1 (G285R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 931791	NM_002047.4(GARS1):c.1002C>G (p.Ile334Met)	GARS1 (I280M +1 more)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, type 5A +2 more	GConflicting classifications of pathogenicity
Select item 911971	NM_002047.4(GARS1):c.*145C>A	GARS1	Single nucleotide variant (3 prime UTR variant)	Distal spinal muscular atrophy +2 more	GUncertain significance
Select item 911862	NM_002047.4(GARS1):c.1194+3A>C	GARS1	Single nucleotide variant (intron variant)	Neuronopathy, distal hereditary motor, type 5A +2 more	GUncertain significance
Select item 911861	NM_002047.4(GARS1):c.1188T>C (p.Val396=)	GARS1	Single nucleotide variant (synonymous variant)	Neuronopathy, distal hereditary motor, type 5A +2 more	GUncertain significance
Select item 911698	NM_002047.2(GARS1):c.-69T>G	GARS1	Single nucleotide variant (5 prime UTR variant)	Neuronopathy, distal hereditary motor, type 5A +2 more	GUncertain significance
Select item 910686	NM_002047.4(GARS1):c.1770A>G (p.Glu590=)	GARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2D +2 more	GUncertain significance
Select item 910635	NM_002047.4(GARS1):c.1143G>C (p.Gln381His)	GARS1 (Q381H +1 more)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, type 5A +2 more	GUncertain significance
Select item 910466	NM_002047.2(GARS1):c.-85C>A	GARS1	Single nucleotide variant (5 prime UTR variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 910465	NM_002047.2(GARS1):c.-166T>G	GARS1	Single nucleotide variant (5 prime UTR variant)	Charcot-Marie-Tooth disease type 2D +2 more	GUncertain significance
Select item 910408	NM_002047.2(GARS1):c.-280G>A	GARS1	Single nucleotide variant	Neuronopathy, distal hereditary motor, type 5A +2 more	GBenign
Select item 909538	NM_002047.2(GARS1):c.-180G>C	GARS1	Single nucleotide variant (5 prime UTR variant)	Neuronopathy, distal hereditary motor, type 5A +2 more	GUncertain significance
Select item 908914	NM_002047.4(GARS1):c.1253C>T (p.Thr418Met)	GARS1 (T364M +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2D +3 more	GConflicting classifications of pathogenicity
Select item 908741	NM_002047.2(GARS1):c.-64C>T	GARS1	Single nucleotide variant (5 prime UTR variant)	Charcot-Marie-Tooth disease type 2D +2 more	GUncertain significance
Select item 908681	NM_002047.2(GARS1):c.-195A>T	GARS1	Single nucleotide variant	Charcot-Marie-Tooth disease type 2D +2 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)	Neuronopathy, distal hereditary motor, type 5A +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)	Neuronopathy, distal hereditary motor, type 5A +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 834709	NM_002047.4(GARS1):c.1694T>A (p.Leu565Gln)	GARS1 (L511Q +1 more)	Single nucleotide variant (missense variant)	Distal spinal muscular atrophy +5 more	GConflicting classifications of pathogenicity
Select item 694991	NM_002047.4(GARS1):c.647A>G (p.His216Arg)	GARS1 (H162R +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 661670	NM_002047.4(GARS1):c.979G>A (p.Gly327Arg)	GARS1 (G273R +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +1 more	GPathogenic
Select item 649537	NM_002047.4(GARS1):c.616G>A (p.Val206Ile)	GARS1 (V152I +1 more)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, type 5A +3 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 617635	NM_002047.4(GARS1):c.643G>C (p.Asp215His)	GARS1 (D215H +1 more)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, type 5A	GLikely pathogenic
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 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 515141	NM_001122955.4(BSCL2):c.810C>T (p.Arg270=)	BSCL2, HNRNPUL2-BSCL2	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +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 476760	NM_002047.4(GARS1):c.700G>A (p.Glu234Lys)	GARS1 (E234K +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +3 more	GBenign/Likely benign
Select item 476747	NM_002047.4(GARS1):c.1000A>T (p.Ile334Phe)	GARS1 (I334F +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 441078	NM_002047.2(GARS1):c.-45C>G	GARS1	Single nucleotide variant (5 prime UTR variant)	Charcot-Marie-Tooth disease type 2D +1 more	Gnot provided
Select item 431819	NM_002047.4(GARS1):c.562G>A (p.Val188Ile)	GARS1 (V188I +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +4 more	GConflicting classifications of pathogenicity
Select item 422016	NM_002047.4(GARS1):c.253A>G (p.Lys85Glu)	GARS1 (K85E +1 more)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 410314	NM_002047.4(GARS1):c.1415A>G (p.His472Arg)	GARS1 (H472R +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +1 more	GPathogenic
Select item 410311	NM_002047.4(GARS1):c.262C>G (p.Gln88Glu)	GARS1 (Q88E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 410310	NM_002047.4(GARS1):c.1186G>A (p.Val396Ile)	GARS1 (V396I +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +3 more	GUncertain significance
Select item 360024	NM_002047.4(GARS1):c.*73A>G	GARS1	Single nucleotide variant (3 prime UTR variant)	Distal spinal muscular atrophy +2 more	GBenign
Select item 360023	NM_002047.4(GARS1):c.*67C>G	GARS1	Single nucleotide variant (3 prime UTR variant)	Distal spinal muscular atrophy +3 more	GBenign/Likely benign
Select item 360019	NM_002047.4(GARS1):c.2212G>A (p.Glu738Lys)	GARS1 (E738K +1 more)	Single nucleotide variant (missense variant)	Distal spinal muscular atrophy +5 more	GBenign/Likely benign
Select item 360018	NM_002047.4(GARS1):c.2211C>T (p.Ile737=)	GARS1	Single nucleotide variant (synonymous variant)	Distal spinal muscular atrophy +4 more	GConflicting classifications of pathogenicity
Select item 360017	NM_002047.4(GARS1):c.1923T>C (p.His641=)	GARS1	Single nucleotide variant (synonymous variant)	Distal spinal muscular atrophy +5 more	GBenign/Likely benign
Select item 360016	NM_002047.4(GARS1):c.1809+14T>C	GARS1	Single nucleotide variant (intron variant)	Distal spinal muscular atrophy +5 more	GConflicting classifications of pathogenicity
Select item 360015	NM_002047.4(GARS1):c.1761G>A (p.Thr587=)	GARS1	Single nucleotide variant (synonymous variant)	Distal spinal muscular atrophy +6 more	GBenign
Select item 360014	NM_002047.4(GARS1):c.1478A>G (p.Asn493Ser)	GARS1 (N493S +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +4 more	GConflicting classifications of pathogenicity
Select item 360013	NM_002047.4(GARS1):c.1420C>A (p.Arg474=)	GARS1	Single nucleotide variant (synonymous variant)	Distal spinal muscular atrophy +7 more	GBenign/Likely benign
Select item 360012	NM_002047.4(GARS1):c.1163G>A (p.Arg388Gln)	GARS1 (R388Q +1 more)	Single nucleotide variant (missense variant)	Distal spinal muscular atrophy +6 more	GBenign/Likely benign
Select item 360011	NM_002047.4(GARS1):c.1100A>G (p.Asn367Ser)	GARS1 (N367S +1 more)	Single nucleotide variant (missense variant)	Distal spinal muscular atrophy +6 more	GConflicting classifications of pathogenicity
Select item 360010	NM_002047.4(GARS1):c.1059C>G (p.His353Gln)	GARS1 (H353Q +1 more)	Single nucleotide variant (missense variant)	Distal spinal muscular atrophy +2 more	GUncertain significance
Select item 360009	NM_002047.4(GARS1):c.882-4A>G	GARS1	Single nucleotide variant (intron variant)	Distal spinal muscular atrophy +5 more	GConflicting classifications of pathogenicity
Select item 360008	NM_002047.4(GARS1):c.882-15T>G	GARS1	Single nucleotide variant (intron variant)	Distal spinal muscular atrophy +4 more	GConflicting classifications of pathogenicity
Select item 360007	NM_002047.4(GARS1):c.766G>C (p.Asp256His)	GARS1 (D256H +1 more)	Single nucleotide variant (missense variant)	Distal spinal muscular atrophy +4 more	GBenign/Likely benign
Select item 360006	NM_002047.4(GARS1):c.765G>A (p.Ala255=)	GARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2 +5 more	GConflicting classifications of pathogenicity
Select item 360005	NM_002047.4(GARS1):c.764C>T (p.Ala255Val)	GARS1 (A255V +1 more)	Single nucleotide variant (missense variant)	Distal spinal muscular atrophy +6 more	GConflicting classifications of pathogenicity
Select item 360004	NM_002047.4(GARS1):c.699C>T (p.Val233=)	GARS1	Single nucleotide variant (synonymous variant)	Distal spinal muscular atrophy +8 more	GBenign/Likely benign
Select item 360003	NM_002047.4(GARS1):c.384G>A (p.Leu128=)	GARS1	Single nucleotide variant (synonymous variant)	Distal spinal muscular atrophy +4 more	GConflicting classifications of pathogenicity
Select item 360002	NM_002047.4(GARS1):c.270C>T (p.Asp90=)	GARS1	Single nucleotide variant (synonymous variant)	Distal spinal muscular atrophy +7 more	GBenign/Likely benign
Select item 360001	NM_002047.4(GARS1):c.-36C>T	GARS1	Single nucleotide variant (5 prime UTR variant)	Distal spinal muscular atrophy +2 more	GUncertain significance
Select item 360000	NM_002047.4(GARS1):c.-36C>A	GARS1	Single nucleotide variant (5 prime UTR variant)	Distal spinal muscular atrophy +2 more	GBenign/Likely benign
Select item 359999	NM_002047.2(GARS1):c.-59C>T	GARS1	Single nucleotide variant (5 prime UTR variant)	Distal spinal muscular atrophy +2 more	GUncertain significance
Select item 359998	NM_002047.2(GARS1):c.-69T>A	GARS1	Single nucleotide variant (5 prime UTR variant)	Distal spinal muscular atrophy +2 more	GBenign
Select item 359997	NM_002047.2(GARS1):c.-80C>T	GARS1	Single nucleotide variant (5 prime UTR variant)	Distal spinal muscular atrophy +2 more	GUncertain significance
Select item 359996	NM_002047.2(GARS1):c.-177T>C	GARS1	Single nucleotide variant (5 prime UTR variant)	Distal spinal muscular atrophy +3 more	GBenign/Likely benign
Select item 359995	NM_002047.2(GARS1):c.-197G>C	GARS1	Single nucleotide variant	Distal spinal muscular atrophy +2 more	GUncertain significance
Select item 359994	NM_002047.2(GARS1):c.-205C>T	GARS1	Single nucleotide variant	Distal spinal muscular atrophy +3 more	GBenign/Likely benign
Select item 359993	NM_002047.2(GARS1):c.-217A>G	GARS1	Single nucleotide variant	Distal spinal muscular atrophy +3 more	GBenign
Select item 359992	NM_002047.2(GARS1):c.-225G>A	GARS1	Single nucleotide variant	Distal spinal muscular atrophy +3 more	GBenign/Likely benign
Select item 359991	NM_002047.2(GARS1):c.-237A>C	GARS1	Single nucleotide variant	Distal spinal muscular atrophy +2 more	GUncertain significance
Select item 359990	NM_002047.2(GARS1):c.-317G>A	GARS1	Single nucleotide variant	Distal spinal muscular atrophy +3 more	GBenign
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)	Hereditary spastic paraplegia +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)	Neuronopathy, distal hereditary motor, type 5A +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)	Congenital generalized lipodystrophy type 2 +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)	Neuronopathy, distal hereditary motor, type 5A +3 more	GConflicting classifications of pathogenicity
Select item 305184	NM_001122955.4(BSCL2):c.131G>A (p.Gly44Asp)	HNRNPUL2-BSCL2, 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)	Hereditary spastic paraplegia 17 +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)	BSCL2-related condition +2 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)	Neuronopathy, distal hereditary motor, type 5A +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)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 305179	NM_001122955.4(BSCL2):c.745G>T (p.Ala249Ser)	BSCL2, HNRNPUL2-BSCL2 (A249S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Neuronopathy, distal hereditary motor, type 5A +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)	Congenital generalized lipodystrophy type 2 +4 more	GConflicting classifications of pathogenicity
Select item 305177	NM_001122955.4(BSCL2):c.845C>T (p.Ala282Val)	HNRNPUL2-BSCL2, BSCL2 (A218V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	BSCL2-related condition +7 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)	BSCL2-related condition +6 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)	not specified +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)	Congenital generalized lipodystrophy 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 258538	NM_002047.4(GARS1):c.747T>C (p.Tyr249=)	GARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease +6 more	GBenign
Select item 258537	NM_002047.4(GARS1):c.659-43C>A	GARS1	Single nucleotide variant (intron variant)	Spinal muscular atrophy, infantile, James type +4 more	GBenign
Select item 258536	NM_002047.4(GARS1):c.2095-6C>T	GARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease +7 more	GBenign
Select item 258532	NM_002047.4(GARS1):c.124C>G (p.Pro42Ala)	GARS1 (P42A)	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth disease +7 more	GBenign
Select item 258530	NM_002047.4(GARS1):c.1031+14T>G	GARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease +6 more	GBenign/Likely benign
Select item 257499	NM_001122955.4(BSCL2):c.765+15C>T	HNRNPUL2-BSCL2, BSCL2	Single nucleotide variant (intron variant)	not provided +4 more	GBenign
Select item 257497	NM_001122955.4(BSCL2):c.486+11G>T	BSCL2, HNRNPUL2-BSCL2	Single nucleotide variant (intron variant)	Severe neurodegenerative syndrome with lipodystrophy +7 more	GBenign

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