GARS1[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 797

<< First< Prev

Page of 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CCDC146, CCDC201 +4735 more	Copy number loss	See cases	GPathogenic
Select item 59678	GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3	ABCB5, ACTB +1148 more	Copy number gain	See cases	GPathogenic
Select item 57453	GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3	LOC126860013, LOC126860014 +1298 more	Copy number gain	See cases	GPathogenic
Select item 147609	GRCh38/hg38 7p21.1-14.3(chr7:20561456-32005143)x1	ABCB5, ADCYAP1R1 +387 more	Copy number loss	See cases	GPathogenic
Select item 57469	GRCh38/hg38 7p14.3(chr7:30420933-34560665)x3	ADCYAP1R1, AQP1 +85 more	Copy number gain	See cases	GPathogenic
Select item 683987	NM_002047.2(GARS1):c.-534T>C	GARS1	Single nucleotide variant	not provided	GBenign
Select item 1187748	NC_000007.14:g.30594476T>C	GARS1	Single nucleotide variant	not provided	GLikely benign
Select item 675532	NM_002047.2(GARS1):c.-418T>A	GARS1	Single nucleotide variant	not provided	GBenign
Select item 359990	NM_002047.2(GARS1):c.-317G>A	GARS1	Single nucleotide variant	Distal spinal muscular atrophy +3 more	GBenign
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 359991	NM_002047.2(GARS1):c.-237A>C	GARS1	Single nucleotide variant	Distal spinal muscular atrophy +2 more	GUncertain significance
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 359993	NM_002047.2(GARS1):c.-217A>G	GARS1	Single nucleotide variant	Distal spinal muscular atrophy +3 more	GBenign
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 359995	NM_002047.2(GARS1):c.-197G>C	GARS1	Single nucleotide variant	Distal spinal muscular atrophy +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 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 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 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 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 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 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 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 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 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 546127	NM_002047.2(GARS1):c.-45C>T	GARS1	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
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 511107	NM_002047.4(GARS1):c.-40C>A	GARS1	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 422928	NM_002047.4(GARS1):c.-38G>A	GARS1	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
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 426829	NM_002047.4(GARS1):c.-31C>A	GARS1	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 917322	NM_002047.4(GARS1):c.-14A>G	GARS1	Single nucleotide variant (5 prime UTR variant)	Charcot-Marie-Tooth disease	GLikely benign
Select item 507357	NM_002047.4(GARS1):c.-6A>G	GARS1	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1316195	NM_002047.4(GARS1):c.-1C>A	GARS1	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 936043	NM_002047.4(GARS1):c.1A>T (p.Met1Leu)	GARS1 (M1L)	Single nucleotide variant (5 prime UTR variant +2 more)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 1053662	NM_002047.4(GARS1):c.3G>T (p.Met1Ile)	GARS1 (M1I)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 246591	NM_002047.4(GARS1):c.3G>A (p.Met1Ile)	GARS1 (M1I)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2805168	NM_002047.4(GARS1):c.5C>T (p.Pro2Leu)	GARS1 (P2L)	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 1096484	NM_002047.4(GARS1):c.6C>T (p.Pro2=)	GARS1	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 860885	NM_002047.4(GARS1):c.8C>A (p.Ser3Tyr)	GARS1 (S3Y)	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 1899357	NM_002047.4(GARS1):c.11C>G (p.Pro4Arg)	GARS1 (P4R)	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 220422	NM_002047.4(GARS1):c.11C>T (p.Pro4Leu)	GARS1 (P4L)	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 2 +6 more	GBenign/Likely benign
Select item 1155271	NM_002047.4(GARS1):c.12G>A (p.Pro4=)	GARS1	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2021700	NM_002047.4(GARS1):c.17C>T (p.Pro6Leu)	GARS1 (P6L)	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 760493	NM_002047.4(GARS1):c.18A>G (p.Pro6=)	GARS1	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 657471	NM_002047.4(GARS1):c.19G>T (p.Val7Leu)	GARS1 (V7L)	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 2 +2 more	GConflicting classifications of pathogenicity
Select item 1799772	NM_002047.4(GARS1):c.20T>G (p.Val7Gly)	GARS1 (V7G)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3005091	NM_002047.4(GARS1):c.28A>G (p.Arg10Gly)	GARS1 (R10G)	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 1800402	NM_002047.4(GARS1):c.31G>A (p.Gly11Ser)	GARS1 (G11S)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
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 1059724	NM_002047.4(GARS1):c.37C>T (p.Arg13Cys)	GARS1 (R13C)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 2 +1 more	GUncertain significance
Select item 476757	NM_002047.4(GARS1):c.38_39delinsCT (p.Arg13Pro)	GARS1 (R13P)	Indel (missense variant +1 more)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 2913323	NM_002047.4(GARS1):c.43G>A (p.Ala15Thr)	GARS1 (A15T)	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 694989	NM_002047.4(GARS1):c.44C>T (p.Ala15Val)	GARS1 (A15V)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 2919422	NM_002047.4(GARS1):c.45T>G (p.Ala15=)	GARS1	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 543196	NM_002047.4(GARS1):c.47TGC[7] (p.Leu19_Leu20dup)	GARS1	Microsatellite (5 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 2 +1 more	GUncertain significance
Select item 476759	NM_002047.4(GARS1):c.47TGC[6] (p.Leu20dup)	GARS1	Microsatellite (5 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 1192037	NM_002047.4(GARS1):c.46C>G (p.Leu16Val)	GARS1 (L16V)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 416092	NM_002047.4(GARS1):c.47TGC[4] (p.Leu20del)	GARS1 (L20del)	Microsatellite (5 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 2 +1 more	GBenign/Likely benign
Select item 2417794	NM_002047.4(GARS1):c.48G>A (p.Leu16=)	GARS1	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 416090	NM_002047.4(GARS1):c.51G>A (p.Leu17=)	GARS1	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +3 more	GBenign/Likely benign
Select item 962841	NM_002047.4(GARS1):c.52C>A (p.Leu18Met)	GARS1 (L18M)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GUncertain significance
Select item 1203950	NM_002047.4(GARS1):c.59T>C (p.Leu20Pro)	GARS1 (L20P)	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 2 +3 more	GConflicting classifications of pathogenicity
Select item 1124319	NM_002047.4(GARS1):c.69G>T (p.Arg23=)	GARS1	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 384840	NM_002047.4(GARS1):c.69G>A (p.Arg23=)	GARS1	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 1156828	NM_002047.4(GARS1):c.72C>T (p.Leu24=)	GARS1	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2432037	NM_002047.4(GARS1):c.76del (p.Ala26fs)	GARS1 (A26fs)	Deletion (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2915038	NM_002047.4(GARS1):c.80G>A (p.Arg27Gln)	GARS1 (R27Q)	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 1680873	NM_002047.4(GARS1):c.87G>T (p.Ser29=)	GARS1	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 374602	NM_002047.4(GARS1):c.90C>T (p.Leu30=)	GARS1	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2005148	NM_002047.4(GARS1):c.93_94delinsCG (p.Leu32Val)	GARS1 (L32V)	Indel (5 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 390140	NM_002047.4(GARS1):c.93G>A (p.Leu31=)	GARS1	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GLikely 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 217861	NM_002047.4(GARS1):c.95T>C (p.Leu32Pro)	GARS1 (L32P)	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth disease	GBenign
Select item 1698077	NM_002047.4(GARS1):c.100C>T (p.Arg34Trp)	GARS1 (R34W)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 2422410	NM_002047.4(GARS1):c.101G>T (p.Arg34Leu)	GARS1 (R34L)	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 1680874	NM_002047.4(GARS1):c.101G>A (p.Arg34Gln)	GARS1 (R34Q)	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 2 +1 more	GUncertain significance
Select item 2411942	NM_002047.4(GARS1):c.104C>T (p.Ser35Phe)	GARS1 (S35F)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 804827	NM_002047.4(GARS1):c.104C>G (p.Ser35Cys)	GARS1 (S35C)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 1680875	NM_002047.4(GARS1):c.108C>T (p.Leu36=)	GARS1	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 1680878	NM_002047.4(GARS1):c.110G>A (p.Ser37Asn)	GARS1 (S37N)	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 1680877	NM_002047.4(GARS1):c.110del (p.Ser37fs)	GARS1 (S37fs)	Deletion (frameshift variant +1 more)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 573677	NM_002047.4(GARS1):c.112G>A (p.Ala38Thr)	GARS1 (A38T)	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 2 +1 more	GUncertain significance
Select item 1680879	NM_002047.4(GARS1):c.114G>T (p.Ala38=)	GARS1	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2891312	NM_002047.4(GARS1):c.117C>T (p.Ala39=)	GARS1	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 950612	NM_002047.4(GARS1):c.123C>A (p.Cys41Ter)	GARS1 (C41*)	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 549699	NM_002047.4(GARS1):c.123_124insG (p.Pro42fs)	GARS1 (P42fs)	Insertion (frameshift variant +1 more)	Motor neuron disease	GUncertain significance
Select item 2716926	NM_002047.4(GARS1):c.124C>A (p.Pro42Thr)	GARS1 (P42T)	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 2	GLikely benign
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 1680880	NM_002047.4(GARS1):c.125C>T (p.Pro42Leu)	GARS1 (P42L)	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 1680881	NM_002047.4(GARS1):c.128C>G (p.Pro43Arg)	GARS1 (P43R)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 1037240	NM_002047.4(GARS1):c.128C>T (p.Pro43Leu)	GARS1 (P43L)	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 2	GBenign
Select item 917320	NM_002047.4(GARS1):c.129G>T (p.Pro43=)	GARS1	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth disease	GLikely benign
Select item 694990	NM_002047.4(GARS1):c.130A>C (p.Ile44Leu)	GARS1 (I44L)	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 938114	NM_002047.4(GARS1):c.131T>G (p.Ile44Ser)	GARS1 (I44S)	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 3025449	NM_002047.4(GARS1):c.138G>A (p.Leu46=)	GARS1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1903083	NM_002047.4(GARS1):c.141C>A (p.Pro47=)	GARS1	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 585899	NM_002047.4(GARS1):c.144C>T (p.Ala48=)	GARS1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 2697924	NM_002047.4(GARS1):c.145G>C (p.Ala49Pro)	GARS1 (A49P)	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 2	GUncertain significance

<< First< Prev

Page of 8