DARS1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 147544	GRCh38/hg38 2q14.3-22.1(chr2:123445762-140592538)x1	ACMSD, AMER3 +336 more	Copy number loss	See cases	GPathogenic
Select item 1031971	NM_001349.4(DARS1):c.1493G>A (p.Arg498Gln)	DARS1 (R498Q +1 more)	Single nucleotide variant (missense variant)	Hypomyelination with brain stem and spinal cord involvement and leg spasticity	GUncertain significance
Select item 1311067	NM_001349.4(DARS1):c.1492C>T (p.Arg498Ter)	DARS1 (R398* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2124048	NM_001349.4(DARS1):c.1486C>G (p.Pro496Ala)	DARS1 (P396A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 522693	NM_001349.4(DARS1):c.1481G>A (p.Arg494His)	DARS1 (R494H +1 more)	Single nucleotide variant (missense variant)	Hypomyelination with brain stem and spinal cord involvement and leg spasticity	GLikely pathogenic
Select item 2203149	NM_001349.4(DARS1):c.1480C>T (p.Arg494Cys)	DARS1 (R494C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 50991	NM_001349.4(DARS1):c.1480C>G (p.Arg494Gly)	DARS1 (R494G +1 more)	Single nucleotide variant (missense variant)	Hypomyelination with brain stem and spinal cord involvement and leg spasticity	GPathogenic
Select item 1682544	NM_001349.4(DARS1):c.1460G>A (p.Arg487His)	DARS1 (R387H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 50989	NM_001349.4(DARS1):c.1459C>T (p.Arg487Cys)	DARS1 (R487C +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 596672	NM_001349.4(DARS1):c.1432A>C (p.Met478Leu)	DARS1 (M478L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2083742	NM_001349.4(DARS1):c.1426G>A (p.Val476Ile)	DARS1 (V476I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 380521	NM_001349.4(DARS1):c.1417T>C (p.Leu473=)	DARS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1936091	NM_001349.4(DARS1):c.1414+19T>G	DARS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 381423	NM_001349.4(DARS1):c.1414+18C>T	DARS1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1008335	NM_001349.4(DARS1):c.1391C>T (p.Pro464Leu)	DARS1 (P364L +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1958188	NM_001349.4(DARS1):c.1380C>T (p.Arg460=)	DARS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 50990	NM_001349.4(DARS1):c.1379G>A (p.Arg460His)	DARS1 (R460H +1 more)	Single nucleotide variant (missense variant)	Hypomyelination with brain stem and spinal cord involvement and leg spasticity	GPathogenic
Select item 3034295	NM_001349.4(DARS1):c.1374C>G (p.Ser458=)	DARS1	Single nucleotide variant (synonymous variant)	DARS1-related condition	GLikely benign
Select item 3002478	NM_001349.4(DARS1):c.1343-7T>A	DARS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1682545	NM_001349.4(DARS1):c.1343-7T>C	DARS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 380520	NM_001349.4(DARS1):c.1342+14A>G	DARS1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 2181585	NM_001349.4(DARS1):c.1342+9_1342+13del	DARS1	Deletion (intron variant)	not provided	GLikely benign
Select item 1999669	NM_001349.4(DARS1):c.1342+12A>G	DARS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1682546	NM_001349.4(DARS1):c.1323_1324del (p.Arg441fs)	DARS1 (R341fs +1 more)	Microsatellite (frameshift variant)	not provided	GUncertain significance
Select item 383481	NM_001349.4(DARS1):c.1308A>G (p.Gln436=)	DARS1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1702952	NM_001349.4(DARS1):c.1298A>G (p.His433Arg)	DARS1 (H333R +1 more)	Single nucleotide variant (missense variant)	Hypomyelination with brain stem and spinal cord involvement and leg spasticity	GUncertain significance
Select item 2440706	NM_001349.4(DARS1):c.1288C>T (p.Gln430Ter)	DARS1 (Q330* +1 more)	Single nucleotide variant (nonsense)	Hypomyelination with brain stem and spinal cord involvement and leg spasticity	GUncertain significance
Select item 2179121	NM_001349.4(DARS1):c.1285G>A (p.Ala429Thr)	DARS1 (A429T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 488394	NM_001349.4(DARS1):c.1277T>C (p.Leu426Ser)	DARS1 (L426S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1682547	NM_001349.4(DARS1):c.1261A>G (p.Arg421Gly)	DARS1 (R321G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2170806	NM_001349.4(DARS1):c.1249G>A (p.Asp417Asn)	DARS1 (D317N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1696554	NM_001349.4(DARS1):c.1231-455A>G	DARS1	Single nucleotide variant (intron variant)	Hypomyelination with brain stem and spinal cord involvement and leg spasticity	GUncertain significance
Select item 513252	NM_001349.4(DARS1):c.1230+17T>C	DARS1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 2122887	NM_001349.4(DARS1):c.1230+13G>A	DARS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3016271	NM_001349.4(DARS1):c.1230+8A>G	DARS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1928454	NM_001349.4(DARS1):c.1230+1G>A	DARS1	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 1682548	NM_001349.4(DARS1):c.1210A>G (p.Met404Val)	DARS1 (M304V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1961544	NM_001349.4(DARS1):c.1191T>C (p.Ala397=)	DARS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 508845	NM_001349.4(DARS1):c.1158A>G (p.Thr386=)	DARS1	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 714277	NM_001349.4(DARS1):c.1150-5T>G	DARS1	Single nucleotide variant (intron variant)	DARS1-related condition +1 more	GConflicting classifications of pathogenicity
Select item 2024046	NM_001349.4(DARS1):c.1150-10_1150-8del	DARS1	Deletion (intron variant)	not provided	GUncertain significance
Select item 1928866	NM_001349.4(DARS1):c.1149+15A>G	DARS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 596674	NM_001349.4(DARS1):c.1149+8T>G	DARS1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2778397	NM_001349.4(DARS1):c.1149+7C>G	DARS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1682549	NM_001349.4(DARS1):c.1149+7C>A	DARS1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 2019676	NM_001349.4(DARS1):c.1149+3A>C	DARS1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 372877	NM_001349.4(DARS1):c.1129G>C (p.Gly377Arg)	DARS1 (G377R +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1682550	NM_001349.4(DARS1):c.1125G>A (p.Leu375=)	DARS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1908091	NM_001349.4(DARS1):c.1119A>G (p.Glu373=)	DARS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3043641	NM_001349.4(DARS1):c.1107-10T>C	DARS1	Single nucleotide variant (intron variant)	DARS1-related condition	GLikely benign
Select item 2994047	NM_001349.4(DARS1):c.1107-13G>A	DARS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 667528	NM_001349.4(DARS1):c.1104G>C (p.Leu368=)	DARS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1919383	NM_001349.4(DARS1):c.1102C>T (p.Leu368=)	DARS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 50986	NM_001349.4(DARS1):c.1099G>T (p.Asp367Tyr)	DARS1 (D367Y +1 more)	Single nucleotide variant (missense variant)	Hypomyelination with brain stem and spinal cord involvement and leg spasticity	GPathogenic
Select item 449875	NM_001349.4(DARS1):c.1088G>A (p.Gly363Glu)	DARS1 (G363E +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1682551	NM_001349.4(DARS1):c.1083A>G (p.Glu361=)	DARS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2651382	NM_001349.4(DARS1):c.1080C>T (p.Val360=)	DARS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2493909	NM_001349.4(DARS1):c.1078G>A (p.Val360Ile)	DARS1 (V260I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1682552	NM_001349.4(DARS1):c.1076G>A (p.Gly359Glu)	DARS1 (G259E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2188150	NM_001349.4(DARS1):c.1069G>A (p.Glu357Lys)	DARS1 (E357K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1682553	NM_001349.4(DARS1):c.1024C>A (p.Pro342Thr)	DARS1 (P242T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1682554	NM_001349.4(DARS1):c.1023G>T (p.Glu341Asp)	DARS1 (E241D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2807151	NM_001349.4(DARS1):c.1003G>A (p.Glu335Lys)	DARS1 (E235K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1990479	NM_001349.4(DARS1):c.1000T>C (p.Cys334Arg)	DARS1 (C334R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2025893	NM_001349.4(DARS1):c.987T>C (p.Asn329=)	DARS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1961838	NM_001349.4(DARS1):c.985A>C (p.Asn329His)	DARS1 (N229H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1920486	NM_001349.4(DARS1):c.960-15T>C	DARS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1249864	NM_001349.4(DARS1):c.960-86T>C	DARS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238895	NM_001349.4(DARS1):c.959+104C>A	DARS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1327259	NM_001349.4(DARS1):c.959+65dup	DARS1	Duplication (intron variant)	not provided	GBenign
Select item 1682555	NM_001349.4(DARS1):c.959+17G>A	DARS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1997597	NM_001349.4(DARS1):c.959+3A>T	DARS1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2132688	NM_001349.4(DARS1):c.949C>T (p.Leu317Phe)	DARS1 (L317F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 373478	NM_001349.4(DARS1):c.944A>G (p.Lys315Arg)	DARS1 (K315R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602014	NM_001349.4(DARS1):c.908T>C (p.Met303Thr)	DARS1 (M203T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2413721	NM_001349.4(DARS1):c.900C>T (p.His300=)	DARS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1920406	NM_001349.4(DARS1):c.898C>G (p.His300Asp)	DARS1 (H300D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1981198	NM_001349.4(DARS1):c.858T>G (p.Phe286Leu)	DARS1 (F186L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 720762	NM_001349.4(DARS1):c.858T>C (p.Phe286=)	DARS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 982592	NM_001349.4(DARS1):c.845A>C (p.His282Pro)	DARS1 (H182P +1 more)	Single nucleotide variant (missense variant)	Hypomyelination with brain stem and spinal cord involvement and leg spasticity	GUncertain significance
Select item 143190	NM_001349.4(DARS1):c.839A>T (p.His280Leu)	DARS1 (H280L +1 more)	Single nucleotide variant (missense variant)	Hypomyelination with brain stem and spinal cord involvement and leg spasticity	GPathogenic
Select item 1928471	NM_001349.4(DARS1):c.832A>T (p.Asn278Tyr)	DARS1 (N278Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 387255	NM_001349.4(DARS1):c.822G>A (p.Ala274=)	DARS1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 2988443	NM_001349.4(DARS1):c.821C>G (p.Ala274Gly)	DARS1 (A174G +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 50987	NM_001349.4(DARS1):c.821C>T (p.Ala274Val)	DARS1 (A274V +1 more)	Single nucleotide variant (missense variant)	Hypomyelination with brain stem and spinal cord involvement and leg spasticity	GPathogenic
Select item 382069	NM_001349.4(DARS1):c.802A>G (p.Ile268Val)	DARS1 (I268V +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 1682556	NM_001349.4(DARS1):c.767T>A (p.Met256Lys)	DARS1 (M156K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 50988	NM_001349.4(DARS1):c.766A>C (p.Met256Leu)	DARS1 (M256L +1 more)	Single nucleotide variant (missense variant)	Hypomyelination with brain stem and spinal cord involvement and leg spasticity	GPathogenic
Select item 757428	NM_001349.4(DARS1):c.753G>A (p.Gln251=)	DARS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2174772	NM_001349.4(DARS1):c.728A>G (p.Asn243Ser)	DARS1 (N243S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1682557	NM_001349.4(DARS1):c.698A>G (p.Asn233Ser)	DARS1 (N133S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1182781	NM_001349.4(DARS1):c.677-46T>C	DARS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1329668	NM_001349.4(DARS1):c.676+125del	DARS1	Deletion (intron variant)	not provided	GLikely benign
Select item 377267	NM_001349.4(DARS1):c.671T>C (p.Ile224Thr)	DARS1 (I224T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1974614	NM_001349.4(DARS1):c.667A>G (p.Ile223Val)	DARS1 (I123V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1030430	NM_001349.4(DARS1):c.644T>C (p.Phe215Ser)	DARS1 (F215S +1 more)	Single nucleotide variant (missense variant)	Hypomyelination with brain stem and spinal cord involvement and leg spasticity	GUncertain significance
Select item 2070735	NM_001349.4(DARS1):c.622G>C (p.Glu208Gln)	DARS1 (E208Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2815571	NM_001349.4(DARS1):c.603C>T (p.Gly201=)	DARS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1682558	NM_001349.4(DARS1):c.599C>G (p.Ser200Cys)	DARS1 (S100C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 449797	NM_001349.4(DARS1):c.590G>A (p.Arg197His)	DARS1 (R197H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity

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