"PreventionGenetics, part of Exact Sciences"[submitter] AND "DARS2"[ge - ClinVar - NCBI

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

Search results

Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 293813	NM_018122.5(DARS2):c.128-5T>A	DARS2	Single nucleotide variant (intron variant)	DARS2-related disorder +3 more	GBenign/Likely benign
Select item 1463639	NM_018122.5(DARS2):c.260A>G (p.Asp87Gly)	DARS2 (D87G)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2721146	NM_018122.5(DARS2):c.397-6_397-5del	DARS2	Microsatellite (intron variant)	not provided +1 more	GLikely benign
Select item 1061	NM_018122.5(DARS2):c.455G>T (p.Cys152Phe)	DARS2 (C152F)	Single nucleotide variant (missense variant)	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome +3 more	GPathogenic
Select item 1985825	NM_018122.5(DARS2):c.486C>T (p.Phe162=)	DARS2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 380113	NM_018122.5(DARS2):c.580G>A (p.Val194Ile)	DARS2 (V194I)	Single nucleotide variant (missense variant)	DARS2-related disorder +3 more	GBenign/Likely benign
Select item 2971236	NM_018122.5(DARS2):c.669C>T (p.Ala223=)	DARS2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3051074	NM_018122.5(DARS2):c.795T>C (p.Tyr265=)	DARS2	Single nucleotide variant (synonymous variant)	DARS2-related disorder	GLikely benign
Select item 1939399	NM_018122.5(DARS2):c.1380T>C (p.Ala460=)	DARS2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 137066	NM_018122.5(DARS2):c.1642C>A (p.Leu548Met)	DARS2 (L548M +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 2639566	NM_018122.5(DARS2):c.1692C>T (p.Leu564=)	DARS2	Single nucleotide variant (synonymous variant)	DARS2-related disorder +1 more	GLikely benign
Select item 293828	NM_018122.5(DARS2):c.1758C>T (p.Asp586=)	DARS2	Single nucleotide variant (synonymous variant)	DARS2-related disorder +2 more	GConflicting classifications of pathogenicity