"Genome-Nilou Lab"[submitter] AND "DARS2"[gene] - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 801577	NM_018122.5(DARS2):c.127+94ATT[10]	DARS2	Microsatellite (intron variant)	not provided +1 more	GBenign
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 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 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 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 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 379674	NM_018122.5(DARS2):c.303C>T (p.Ala101=)	DARS2	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
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 137071	NM_018122.5(DARS2):c.397-6T>G	DARS2	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
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 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 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 873471	NM_018122.5(DARS2):c.493-1G>C	DARS2	Single nucleotide variant (splice acceptor variant)	See cases +1 more	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 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 801579	NM_018122.5(DARS2):c.610C>G (p.Leu204Val)	DARS2 (L204V)	Single nucleotide variant (missense variant)	not provided +2 more	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 422381	NM_018122.5(DARS2):c.664-17_664-14del	DARS2	Deletion (intron variant)	not provided +2 more	GLikely benign
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 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 682542	NM_018122.5(DARS2):c.939T>G (p.Val313=)	DARS2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 21546	NM_018122.5(DARS2):c.1013G>A (p.Gly338Glu)	DARS2 (G338E)	Single nucleotide variant (missense variant)	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome +1 more	GBenign
Select item 1460958	NM_018122.5(DARS2):c.1118C>A (p.Pro373His)	DARS2 (P373H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1404898	NM_018122.5(DARS2):c.1142G>T (p.Arg381Met)	DARS2 (R381M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 875553	NM_018122.5(DARS2):c.1241T>C (p.Val414Ala)	DARS2 (V414A)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 377767	NM_018122.5(DARS2):c.1345-16C>T	DARS2	Single nucleotide variant (intron variant)	not provided +2 more	GLikely benign
Select item 2131380	NM_018122.5(DARS2):c.1375T>G (p.Cys459Gly)	DARS2 (C408G +1 more)	Single nucleotide variant (missense variant)	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome +1 more	GUncertain significance
Select item 2037410	NM_018122.5(DARS2):c.1381G>T (p.Asp461Tyr)	DARS2 (D461Y +1 more)	Single nucleotide variant (missense variant)	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome +2 more	GUncertain significance
Select item 517966	NM_018122.5(DARS2):c.1497G>A (p.Ser499=)	DARS2	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 806288	NM_018122.5(DARS2):c.1563+5C>T	DARS2	Single nucleotide variant (intron variant)	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome +1 more	GUncertain significance
Select item 137066	NM_018122.5(DARS2):c.1642C>A (p.Leu548Met)	DARS2 (L548M +1 more)	Single nucleotide variant (missense variant)	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome +2 more	GBenign/Likely benign
Select item 1510912	NM_018122.5(DARS2):c.1660G>A (p.Ala554Thr)	DARS2 (A503T +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 137067	NM_018122.5(DARS2):c.1750+19T>G	DARS2	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 2047022	NM_018122.5(DARS2):c.1768T>A (p.Cys590Ser)	DARS2 (C539S +1 more)	Single nucleotide variant (missense variant)	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome +1 more	GUncertain significance
Select item 30863	NM_018122.5(DARS2):c.1825C>T (p.Arg609Trp)	DARS2 (R609W +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 293832	NM_018122.5(DARS2):c.*210T>C	DARS2	Single nucleotide variant (3 prime UTR variant)	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome +1 more	GBenign

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Items: 42