"GeneDx"[submitter] AND "DARS2"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58109	GRCh38/hg38 1q23.1-25.1(chr1:157747246-176021247)x3	ADAMTS4, ADCY10 +775 more	Copy number gain	See cases	GPathogenic
Select item 60042	GRCh38/hg38 1q23.3-25.1(chr1:161740907-173965154)x1	ADCY10, ALDH9A1 +406 more	Copy number loss	See cases	GPathogenic
Select item 58111	GRCh38/hg38 1q23.3-25.2(chr1:164922655-180061589)x3	FAM163A, FAM20B +482 more	Copy number gain	See cases	GPathogenic
Select item 60046	GRCh38/hg38 1q24.2-25.1(chr1:168314822-175299299)x1	ANKRD45, ATP1B1 +232 more	Copy number loss	See cases	GPathogenic
Select item 2662360	NM_018122.5(DARS2):c.79G>A (p.Gly27Ser)	DARS2 (G27S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1397631	NM_018122.5(DARS2):c.91A>G (p.Arg31Gly)	DARS2 (R31G)	Single nucleotide variant (missense variant)	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome +2 more	GUncertain significance
Select item 1223781	NM_018122.5(DARS2):c.127+27A>G	DARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1216762	NM_018122.5(DARS2):c.127+88dup	DARS2	Duplication (intron variant)	not provided	GLikely benign
Select item 1198552	NM_018122.5(DARS2):c.127+92_127+93insTATTATTATTATTAT	DARS2	Insertion (intron variant)	not provided	GLikely benign
Select item 1181704	NM_018122.5(DARS2):c.127+92_127+93insTATTATTATTAT	DARS2	Insertion (intron variant)	not provided	GLikely benign
Select item 1244260	NM_018122.5(DARS2):c.127+94ATT[15]	DARS2	Microsatellite (intron variant)	not provided	GBenign
Select item 1226734	NM_018122.5(DARS2):c.127+94ATT[13]	DARS2	Microsatellite (intron variant)	not provided	GBenign
Select item 1222006	NM_018122.5(DARS2):c.127+94ATT[16]	DARS2	Microsatellite (intron variant)	not provided	GBenign
Select item 1179303	NM_018122.5(DARS2):c.127+94ATT[14]	DARS2	Microsatellite (intron variant)	not provided	GBenign
Select item 1221549	NM_018122.5(DARS2):c.127+94ATT[9]	DARS2	Microsatellite (intron variant)	not provided	GBenign
Select item 801577	NM_018122.5(DARS2):c.127+94ATT[10]	DARS2	Microsatellite (intron variant)	not provided +1 more	GBenign
Select item 672595	NM_018122.5(DARS2):c.127+172G>T	DARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 669478	NM_018122.5(DARS2):c.127+303C>T	DARS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 559193	NM_018122.5(DARS2):c.128-5dup	DARS2	Duplication (intron variant)	not provided	GBenign
Select item 559191	NM_018122.5(DARS2):c.128-6_128-5dup	DARS2	Duplication (intron variant)	not provided	GLikely benign
Select item 559189	NM_018122.5(DARS2):c.128-7_128-5dup	DARS2	Duplication (intron variant)	not provided	GLikely benign
Select item 1191734	NM_018122.5(DARS2):c.128-21T>C	DARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 293813	NM_018122.5(DARS2):c.128-5T>A	DARS2	Single nucleotide variant (intron variant)	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome +2 more	GBenign/Likely benign
Select item 377765	NM_018122.5(DARS2):c.128-4A>T	DARS2	Single nucleotide variant (intron variant)	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome +1 more	GConflicting classifications of pathogenicity
Select item 3338768	NM_018122.5(DARS2):c.149G>A (p.Arg50Gln)	DARS2 (R50Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1188834	NM_018122.5(DARS2):c.172C>G (p.Arg58Gly)	DARS2 (R58G)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 451395	NM_018122.5(DARS2):c.188G>A (p.Gly63Asp)	DARS2 (G63D)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1238647	NM_018122.5(DARS2):c.227+28G>T	DARS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1240418	NM_018122.5(DARS2):c.227+29C>T	DARS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 683695	NM_018122.5(DARS2):c.227+245A>G	DARS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 673680	NM_018122.5(DARS2):c.228-245T>C	DARS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 418155	NM_018122.5(DARS2):c.228-20dup	DARS2	Duplication (intron variant)	not provided	GLikely benign
Select item 559196	NM_018122.5(DARS2):c.228-20del	DARS2	Deletion (intron variant)	not provided	GLikely benign
Select item 2499836	NM_018122.5(DARS2):c.228-21_228-20delinsCC	DARS2	Indel (intron variant)	not provided	GUncertain significance
Select item 559195	NM_018122.5(DARS2):c.228-21_228-20insC	DARS2	Insertion (intron variant)	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome +1 more	GBenign/Likely benign
Select item 1057	NM_018122.5(DARS2):c.228-21_228-20delinsC	DARS2	Indel (intron variant)	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome +14 more	GPathogenic
Select item 510081	NM_018122.5(DARS2):c.228-20delinsCC	DARS2	Indel (intron variant)	not specified	GLikely benign
Select item 418156	NM_018122.5(DARS2):c.228-10dup	DARS2	Duplication (intron variant)	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome +1 more	GBenign/Likely benign
Select item 137068	NM_018122.5(DARS2):c.228-20T>C	DARS2	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 418157	NM_018122.5(DARS2):c.228-10del	DARS2	Deletion (intron variant)	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome +1 more	GBenign
Select item 137069	NM_018122.5(DARS2):c.228-19C>T	DARS2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1182591	NM_018122.5(DARS2):c.228-16C>A	DARS2	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1199571	NM_018122.5(DARS2):c.228-15C>A	DARS2	Single nucleotide variant (intron variant)	not provided	GPathogenic
Select item 509452	NM_018122.5(DARS2):c.228-15C>T	DARS2	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1209400	NM_018122.5(DARS2):c.228-14C>G	DARS2	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 1213670	NM_018122.5(DARS2):c.228-12C>A	DARS2	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 137070	NM_018122.5(DARS2):c.228-12C>G	DARS2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 875498	NM_018122.5(DARS2):c.228-10C>G	DARS2	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2580555	NM_018122.5(DARS2):c.259G>T (p.Asp87Tyr)	DARS2 (D87Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 683697	NM_018122.5(DARS2):c.294+215A>G	DARS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 379674	NM_018122.5(DARS2):c.303C>T (p.Ala101=)	DARS2	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1303065	NM_018122.5(DARS2):c.374G>A (p.Arg125His)	DARS2 (R125H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2663596	NM_018122.5(DARS2):c.382G>C (p.Gly128Arg)	DARS2 (G128R)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 449386	NM_018122.5(DARS2):c.396+2T>G	DARS2	Single nucleotide variant (splice donor variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1217385	NM_018122.5(DARS2):c.396+57G>C	DARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 673681	NM_018122.5(DARS2):c.396+312C>T	DARS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1223084	NM_018122.5(DARS2):c.397-42C>T	DARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 137071	NM_018122.5(DARS2):c.397-6T>G	DARS2	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1722987	NM_018122.5(DARS2):c.397-2A>G	DARS2	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1061	NM_018122.5(DARS2):c.455G>T (p.Cys152Phe)	DARS2 (C152F)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 451396	NM_018122.5(DARS2):c.469T>A (p.Phe157Ile)	DARS2 (F157I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1303066	NM_018122.5(DARS2):c.473A>T (p.Glu158Val)	DARS2 (E158V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1062	NM_018122.5(DARS2):c.492+2T>C	DARS2	Single nucleotide variant (splice donor variant)	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome +15 more	GPathogenic
Select item 1262630	NM_018122.5(DARS2):c.493-306C>T	DARS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235658	NM_018122.5(DARS2):c.493-77del	DARS2	Deletion (intron variant)	not provided	GBenign
Select item 137072	NM_018122.5(DARS2):c.493-3T>C	DARS2	Single nucleotide variant (intron variant)	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome +2 more	GBenign
Select item 1303533	NM_018122.5(DARS2):c.503C>T (p.Ala168Val)	DARS2 (A168V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 420970	NM_018122.5(DARS2):c.505C>T (p.Leu169Phe)	DARS2 (L169F)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1191134	NM_018122.5(DARS2):c.508C>T (p.Arg170Trp)	DARS2 (R170W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 451749	NM_018122.5(DARS2):c.509G>A (p.Arg170Gln)	DARS2 (R170Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 427121	NM_018122.5(DARS2):c.527T>C (p.Leu176Ser)	DARS2 (L176S)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1064	NM_018122.5(DARS2):c.536G>A (p.Arg179His)	DARS2 (R179H)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 293815	NM_018122.5(DARS2):c.567G>A (p.Leu189=)	DARS2	Single nucleotide variant (synonymous variant)	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome +2 more	GConflicting classifications of pathogenicity
Select item 380113	NM_018122.5(DARS2):c.580G>A (p.Val194Ile)	DARS2 (V194I)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 21547	NM_018122.5(DARS2):c.587A>G (p.Lys196Arg)	DARS2 (K196R)	Single nucleotide variant (missense variant)	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome +2 more	GBenign
Select item 1304576	NM_018122.5(DARS2):c.662G>A (p.Gly221Glu)	DARS2 (G221E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 137065	NM_018122.5(DARS2):c.663+8T>C	DARS2	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 1279309	NM_018122.5(DARS2):c.663+225_663+226insC	DARS2	Insertion (intron variant)	not provided	GBenign
Select item 1268362	NM_018122.5(DARS2):c.663+226T>C	DARS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231328	NM_018122.5(DARS2):c.663+226T>A	DARS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282378	NM_018122.5(DARS2):c.663+263G>T	DARS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1183401	NM_018122.5(DARS2):c.663+279dup	DARS2	Duplication (intron variant)	not provided	GBenign
Select item 1231622	NM_018122.5(DARS2):c.663+279del	DARS2	Deletion (intron variant)	not provided	GBenign
Select item 422381	NM_018122.5(DARS2):c.664-17_664-14del	DARS2	Deletion (intron variant)	not provided +2 more	GLikely benign
Select item 451302	NM_018122.5(DARS2):c.668C>G (p.Ala223Gly)	DARS2 (A223G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1303067	NM_018122.5(DARS2):c.742C>A (p.Gln248Lys)	DARS2 (Q248K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1188833	NM_018122.5(DARS2):c.742C>T (p.Gln248Ter)	DARS2 (Q248*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1364243	NM_018122.5(DARS2):c.749T>C (p.Leu250Pro)	DARS2 (L250P)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1289298	NM_018122.5(DARS2):c.770+242dup	DARS2	Duplication (intron variant)	not provided	GBenign
Select item 1223563	NM_018122.5(DARS2):c.770+242del	DARS2	Deletion (intron variant)	not provided	GLikely benign
Select item 683703	NM_018122.5(DARS2):c.771-171C>T	DARS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1310135	NM_018122.5(DARS2):c.785C>T (p.Ala262Val)	DARS2 (A262V)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1059	NM_018122.5(DARS2):c.787C>T (p.Arg263Ter)	DARS2 (R263*)	Single nucleotide variant (nonsense)	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome +1 more	GPathogenic
Select item 1060	NM_018122.5(DARS2):c.788G>A (p.Arg263Gln)	DARS2 (R263Q)	Single nucleotide variant (missense variant)	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2202881	NM_018122.5(DARS2):c.796C>T (p.Arg266Ter)	DARS2 (R266*)	Single nucleotide variant (nonsense)	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome +2 more	GPathogenic/Likely pathogenic
Select item 1303385	NM_018122.5(DARS2):c.829G>A (p.Glu277Lys)	DARS2 (E277K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1282377	NM_018122.5(DARS2):c.840+165del	DARS2	Deletion (intron variant)	not provided	GBenign
Select item 1209102	NM_018122.5(DARS2):c.841-40T>C	DARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 682542	NM_018122.5(DARS2):c.939T>G (p.Val313=)	DARS2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 426745	NM_018122.5(DARS2):c.948del (p.Pro317fs)	DARS2 (P317fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic

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