ClinVar for Gene (Select 2617) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3098599	NM_002047.4(GARS1):c.38G>C (p.Arg13Pro)	GARS1 (R13P)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3098598	NM_002047.4(GARS1):c.331G>A (p.Ala111Thr)	GARS1 (A57T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098596	NM_002047.4(GARS1):c.226G>A (p.Asp76Asn)	GARS1 (D22N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098593	NM_002047.4(GARS1):c.1243C>G (p.Leu415Val)	GARS1 (L361V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098592	NM_002047.4(GARS1):c.110G>T (p.Ser37Ile)	GARS1 (S37I)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3063000	GRCh37/hg19 7p14.3(chr7:28940557-31806164)x3	ADCYAP1R1, AQP1 +21 more	Copy number gain	not specified	GUncertain significance
Select item 3062983	GRCh37/hg19 7p21.1-14.3(chr7:17736012-30663423)x1	ABCB5, CBX3 +75 more	Copy number loss	not specified	GPathogenic
Select item 3062970	GRCh37/hg19 7p14.3(chr7:30655068-31166676)x3	ADCYAP1R1, AQP1 +5 more	Copy number gain	not specified	GUncertain significance
Select item 3029843	NM_002047.4(GARS1):c.2217A>G (p.Glu739=)	GARS1	Single nucleotide variant (synonymous variant)	GARS1-related condition	GLikely benign
Select item 3029561	NM_002047.4(GARS1):c.1359+2dup	GARS1	Duplication (splice donor variant)	GARS1-related condition	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 3022397	NM_002047.4(GARS1):c.1529A>G (p.Lys510Arg)	GARS1 (K456R +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 3022343	NM_002047.4(GARS1):c.212T>C (p.Val71Ala)	GARS1 (V71A +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 3020742	NM_002047.4(GARS1):c.944A>G (p.Asn315Ser)	GARS1 (N261S +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 3020643	NM_002047.4(GARS1):c.1995C>T (p.Gly665=)	GARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 3020312	NM_002047.4(GARS1):c.1646T>C (p.Phe549Ser)	GARS1 (F495S +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 3020000	NM_002047.4(GARS1):c.1031+9C>G	GARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
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 3000930	NM_002047.4(GARS1):c.1454C>G (p.Pro485Arg)	GARS1 (P431R +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 3000368	NM_002047.4(GARS1):c.1400A>T (p.Tyr467Phe)	GARS1 (Y413F +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 2986715	NM_002047.4(GARS1):c.154C>G (p.Arg52Gly)	GARS1 (R52G)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 2979625	NM_002047.4(GARS1):c.1743G>A (p.Leu581=)	GARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2978551	NM_002047.4(GARS1):c.689A>G (p.Lys230Arg)	GARS1 (K230R +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 2972068	NM_002047.4(GARS1):c.1700-11C>G	GARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2963265	NM_002047.4(GARS1):c.838T>C (p.Leu280=)	GARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2963086	NM_002047.4(GARS1):c.2218T>A (p.Ter740Arg)	GARS1	Single nucleotide variant (stop lost)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 2961222	NM_002047.4(GARS1):c.1786C>T (p.Arg596Ter)	GARS1 (R542* +1 more)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 2956389	NM_002047.4(GARS1):c.659C>A (p.Ala220Asp)	GARS1 (A166D +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 2921088	NM_002047.4(GARS1):c.1780C>T (p.His594Tyr)	GARS1 (H540Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2915214	NM_002047.4(GARS1):c.633T>C (p.Cys211=)	GARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
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 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 2913200	NM_002047.4(GARS1):c.969T>G (p.Ala323=)	GARS1	Single nucleotide variant (synonymous variant)	GARS1-related condition +1 more	GLikely benign
Select item 2912876	NM_002047.4(GARS1):c.1041A>C (p.Thr347=)	GARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2908504	NM_002047.4(GARS1):c.325-2A>G	GARS1	Single nucleotide variant (splice acceptor variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 2906254	NM_002047.4(GARS1):c.658+13A>T	GARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2905844	NM_002047.4(GARS1):c.1359+3A>G	GARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 2902755	NM_002047.4(GARS1):c.223-5G>A	GARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2895219	NM_002047.4(GARS1):c.1809+12T>A	GARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2891826	NM_002047.4(GARS1):c.2010C>T (p.Val670=)	GARS1	Single nucleotide variant (synonymous variant)	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 2887911	NM_002047.4(GARS1):c.1893C>G (p.Val631=)	GARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2886647	NM_002047.4(GARS1):c.1005C>T (p.Ser335=)	GARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2874592	NM_002047.4(GARS1):c.1172G>T (p.Arg391Leu)	GARS1 (R337L +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 2862177	NM_002047.4(GARS1):c.909G>C (p.Gly303=)	GARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2859352	NM_002047.4(GARS1):c.835A>G (p.Asn279Asp)	GARS1 (N279D +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 2850090	NM_002047.4(GARS1):c.1810-4C>T	GARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2849283	NM_002047.4(GARS1):c.1642A>C (p.Thr548Pro)	GARS1 (T494P +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2847428	NM_002047.4(GARS1):c.1031+10A>T	GARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2845700	NM_002047.4(GARS1):c.895G>C (p.Glu299Gln)	GARS1 (E299Q +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 2840085	NM_002047.4(GARS1):c.1023C>T (p.Ile341=)	GARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2837974	NM_002047.4(GARS1):c.2165_2169del (p.Arg722fs)	GARS1 (R668fs +1 more)	Deletion (frameshift variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 2827395	NM_002047.4(GARS1):c.1237A>G (p.Ile413Val)	GARS1 (I359V +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 2819795	NM_002047.4(GARS1):c.1943A>G (p.Asp648Gly)	GARS1 (D594G +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 2818185	NM_002047.4(GARS1):c.2055T>C (p.Thr685=)	GARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2810314	NM_002047.4(GARS1):c.1720G>A (p.Val574Ile)	GARS1 (V520I +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 2807392	NM_002047.4(GARS1):c.1805G>A (p.Arg602Lys)	GARS1 (R602K +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	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 2802344	NM_002047.4(GARS1):c.1903+16T>G	GARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2799454	NM_002047.4(GARS1):c.1109A>G (p.Asp370Gly)	GARS1 (D316G +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 2797116	NM_002047.4(GARS1):c.2037del (p.Thr680fs)	GARS1 (T626fs +1 more)	Deletion (frameshift variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 2793406	NM_002047.4(GARS1):c.1031+7C>T	GARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2791243	NM_002047.4(GARS1):c.1046C>T (p.Ala349Val)	GARS1 (A349V +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 2785895	NM_002047.4(GARS1):c.197C>G (p.Pro66Arg)	GARS1 (P12R +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 2784913	NM_002047.4(GARS1):c.1088C>G (p.Pro363Arg)	GARS1 (P309R +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 2780111	NM_002047.4(GARS1):c.659-14C>G	GARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 2772122	NM_002047.4(GARS1):c.324G>A (p.Lys108=)	GARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 2770010	NM_002047.4(GARS1):c.2047A>G (p.Thr683Ala)	GARS1 (T629A +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 2769184	NM_002047.4(GARS1):c.1699+23_1699+26del	GARS1	Deletion (intron variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2767331	NM_002047.4(GARS1):c.474G>A (p.Lys158=)	GARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2761153	NM_002047.4(GARS1):c.784A>G (p.Asn262Asp)	GARS1 (N208D +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +1 more	GLikely benign
Select item 2760164	NM_002047.4(GARS1):c.1490T>G (p.Phe497Cys)	GARS1 (F443C +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 2758606	NM_002047.4(GARS1):c.1903+14A>G	GARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2757546	NM_002047.4(GARS1):c.735+12A>G	GARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2755532	NM_002047.4(GARS1):c.1428C>G (p.Thr476=)	GARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2755034	NM_002047.4(GARS1):c.751C>G (p.Gln251Glu)	GARS1 (Q197E +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 2754365	NM_002047.4(GARS1):c.1970G>A (p.Arg657His)	GARS1 (R603H +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 2741988	NM_002047.4(GARS1):c.736-13A>G	GARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2740403	NM_002047.4(GARS1):c.1592A>G (p.Glu531Gly)	GARS1 (E531G +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 2735441	NM_002047.4(GARS1):c.1017A>G (p.Gly339=)	GARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2734981	NM_002047.4(GARS1):c.999G>C (p.Glu333Asp)	GARS1 (E333D +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GPathogenic
Select item 2733401	NM_002047.4(GARS1):c.837C>A (p.Asn279Lys)	GARS1 (N279K +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 2731484	NM_002047.4(GARS1):c.900T>C (p.Thr300=)	GARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2731258	NM_002047.4(GARS1):c.882-16T>G	GARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2729972	NM_002047.4(GARS1):c.216C>T (p.Arg72=)	GARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2729672	NM_002047.4(GARS1):c.1809+20G>A	GARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2728020	NM_002047.4(GARS1):c.2049T>C (p.Thr683=)	GARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2724927	NM_002047.4(GARS1):c.1700-6T>C	GARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2724010	NM_002047.4(GARS1):c.263A>G (p.Gln88Arg)	GARS1 (Q88R +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 2723777	NM_002047.4(GARS1):c.1944C>T (p.Asp648=)	GARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2723772	NM_002047.4(GARS1):c.1699+18A>G	GARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2721774	NM_002047.4(GARS1):c.1468-15T>C	GARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2720980	NM_002047.4(GARS1):c.2110A>G (p.Ser704Gly)	GARS1 (S650G +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 2720370	NM_002047.4(GARS1):c.1510A>G (p.Ile504Val)	GARS1 (I450V +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 2719794	NM_002047.4(GARS1):c.1734C>T (p.Ser578=)	GARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2	GLikely benign
Select item 2719422	NM_002047.4(GARS1):c.570-8T>G	GARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 2717164	NM_002047.4(GARS1):c.535G>A (p.Asp179Asn)	GARS1 (D125N +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	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 2708778	NM_002047.4(GARS1):c.2193T>A (p.Thr731=)	GARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2	GUncertain significance

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