ClinVar for MedGen (Select 316946) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 1 to 100 of 103

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664447	NM_002047.4(GARS1):c.718G>C (p.Glu240Gln)	GARS1 (E186Q +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2D	GUncertain significance
Select item 2664446	NM_002047.4(GARS1):c.1787G>A (p.Arg596Gln)	GARS1 (R542Q +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2D	GUncertain significance
Select item 2664445	NM_002047.4(GARS1):c.1393del (p.Ser465fs)	GARS1 (S411fs +1 more)	Deletion (frameshift variant)	Charcot-Marie-Tooth disease type 2D	GUncertain significance
Select item 1678563	NM_002047.4(GARS1):c.155G>A (p.Arg52Gln)	GARS1 (R52Q)	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 2D	GUncertain significance
Select item 1342184	NM_002047.4(GARS1):c.1007C>A (p.Pro336His)	GARS1 (P282H +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2D	GPathogenic
Select item 1328435	NM_002047.4(GARS1):c.1296C>A (p.His432Gln)	GARS1 (H378Q +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2D	GUncertain significance
Select item 1184267	NM_002047.4(GARS1):c.598G>T (p.Asp200Tyr)	GARS1 (D146Y +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2D	Gnot provided
Select item 984908	NM_002047.4(GARS1):c.794C>A (p.Ser265Tyr)	GARS1 (S265Y +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2D	GPathogenic
Select item 972132	NM_002047.4(GARS1):c.1454C>T (p.Pro485Leu)	GARS1 (P485L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
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)	Distal spinal muscular atrophy +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)	Distal spinal muscular atrophy +3 more	GConflicting classifications of pathogenicity
Select item 910465	NM_002047.2(GARS1):c.-166T>G	GARS1	Single nucleotide variant (5 prime UTR variant)	Distal spinal muscular atrophy +2 more	GUncertain significance
Select item 910408	NM_002047.2(GARS1):c.-280G>A	GARS1	Single nucleotide variant	Distal spinal muscular atrophy +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)	Distal spinal muscular atrophy +2 more	GUncertain significance
Select item 908681	NM_002047.2(GARS1):c.-195A>T	GARS1	Single nucleotide variant	Neuronopathy, distal hereditary motor, type 5A +2 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 812167	NM_002047.4(GARS1):c.34G>A (p.Ala12Thr)	GARS1 (A12T)	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 2D	GUncertain significance
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 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 637544	NM_002047.4(GARS1):c.815T>A (p.Leu272Gln)	GARS1 (L272Q +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2D +1 more	GUncertain significance
Select item 637543	NM_002047.4(GARS1):c.1955G>C (p.Gly652Ala)	GARS1 (G652A +1 more)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, autosomal dominant +2 more	GConflicting classifications of pathogenicity
Select item 637542	NM_002047.4(GARS1):c.631T>C (p.Cys211Arg)	GARS1 (C211R +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GLikely pathogenic
Select item 637502	NM_002047.4(GARS1):c.1031+1G>A	GARS1	Single nucleotide variant (splice donor variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 637501	NM_002047.4(GARS1):c.1809+1G>A	GARS1	Single nucleotide variant (splice donor variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 637108	NM_002047.4(GARS1):c.455C>T (p.Pro152Leu)	GARS1 (P152L +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease +1 more	GUncertain significance
Select item 637059	NM_002047.4(GARS1):c.332C>T (p.Ala111Val)	GARS1 (A111V +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 585901	NM_002047.4(GARS1):c.2159A>C (p.Glu720Ala)	GARS1 (E720A +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2D +3 more	GConflicting classifications of pathogenicity
Select item 543227	NM_002047.4(GARS1):c.1001T>A (p.Ile334Asn)	GARS1 (I334N +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +1 more	GPathogenic/Likely pathogenic
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 447371	NM_002047.4(GARS1):c.1171C>T (p.Arg391Cys)	GARS1 (R391C +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
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)	GARS1-related condition +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)	not provided +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 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 246654	NM_002047.4(GARS1):c.2042C>T (p.Pro681Leu)	GARS1 (P681L +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2D +3 more	GUncertain significance
Select item 245830	NM_002047.4(GARS1):c.305A>G (p.Lys102Arg)	GARS1 (K102R +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +2 more	GUncertain significance
Select item 245685	NM_002047.4(GARS1):c.302G>A (p.Arg101His)	GARS1 (R101H +1 more)	Single nucleotide variant (missense variant)	Distal spinal muscular atrophy +5 more	GConflicting classifications of pathogenicity
Select item 220422	NM_002047.4(GARS1):c.11C>T (p.Pro4Leu)	GARS1 (P4L)	Single nucleotide variant (5 prime UTR variant +1 more)	Distal spinal muscular atrophy +6 more	GBenign/Likely benign
Select item 219915	NM_002047.4(GARS1):c.1962C>T (p.Ile654=)	GARS1	Single nucleotide variant (synonymous variant)	Distal spinal muscular atrophy +7 more	GBenign/Likely benign
Select item 216930	NM_002047.4(GARS1):c.998A>T (p.Glu333Val)	GARS1 (E333V +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2D +1 more	GLikely pathogenic
Select item 216550	NM_002047.4(GARS1):c.1852G>A (p.Val618Ile)	GARS1 (V618I +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +5 more	GConflicting classifications of pathogenicity
Select item 209157	NM_002047.4(GARS1):c.1904C>T (p.Ser635Leu)	GARS1 (S635L +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +2 more	GConflicting classifications of pathogenicity
Select item 194367	NM_002047.4(GARS1):c.1716G>A (p.Pro572=)	GARS1	Single nucleotide variant (synonymous variant)	Distal spinal muscular atrophy +7 more	GConflicting classifications of pathogenicity
Select item 188100	NM_002047.4(GARS1):c.803C>T (p.Thr268Ile)	GARS1 (T268I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +8 more	GBenign/Likely benign
Select item 137444	NM_002047.4(GARS1):c.93G>C (p.Leu31=)	GARS1	Single nucleotide variant (5 prime UTR variant +1 more)	Distal spinal muscular atrophy +5 more	GBenign
Select item 137443	NM_002047.4(GARS1):c.2145A>G (p.Thr715=)	GARS1	Single nucleotide variant (synonymous variant)	Distal spinal muscular atrophy +5 more	GBenign
Select item 137442	NM_002047.4(GARS1):c.1833T>C (p.Val611=)	GARS1	Single nucleotide variant (synonymous variant)	Distal spinal muscular atrophy +6 more	GBenign
Select item 137441	NM_002047.4(GARS1):c.1613+9T>C	GARS1	Single nucleotide variant (intron variant)	Distal spinal muscular atrophy +6 more	GBenign
Select item 137440	NM_002047.4(GARS1):c.1062T>C (p.Phe354=)	GARS1	Single nucleotide variant (synonymous variant)	Distal spinal muscular atrophy +6 more	GBenign
Select item 137439	NM_002047.4(GARS1):c.222+5C>T	GARS1	Single nucleotide variant (intron variant)	Distal spinal muscular atrophy +5 more	GBenign
Select item 9209	NM_002047.4(GARS1):c.893C>T (p.Pro298Leu)	GARS1 (P244L +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2D	GConflicting classifications of pathogenicity
Select item 9208	NM_002047.4(GARS1):c.1660G>A (p.Asp554Asn)	GARS1 (D500N +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2D +2 more	GConflicting classifications of pathogenicity
Select item 9207	NM_002047.4(GARS1):c.1738G>C (p.Gly580Arg)	GARS1 (G526R +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GPathogenic

<< First< Prev

Page of 2