"Genetic Services Laboratory, University of Chicago"[submitter] AND "R - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 130095	NM_020320.5(RARS2):c.1704A>G (p.Lys568=)	RARS2, SLC35A1	Single nucleotide variant (synonymous variant +1 more)	Pontoneocerebellar hypoplasia +3 more	GBenign/Likely benign
Select item 436507	NM_020320.5(RARS2):c.1438G>A (p.Gly480Arg)	RARS2 (G480R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1335989	NM_020320.5(RARS2):c.1246G>T (p.Glu416Ter)	RARS2 (E241* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 212016	NM_020320.5(RARS2):c.1054_1055del (p.Lys352fs)	RARS2 (K352fs +1 more)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 130100	NM_020320.5(RARS2):c.991A>G (p.Ile331Val)	RARS2 (I331V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 138896	NM_020320.5(RARS2):c.888G>C (p.Thr296=)	RARS2	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 130099	NM_020320.5(RARS2):c.872A>G (p.Lys291Arg)	RARS2 (K291R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 358236	NM_020320.5(RARS2):c.754T>A (p.Tyr252Asn)	RARS2 (Y252N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GUncertain significance
Select item 212017	NM_020320.5(RARS2):c.726A>G (p.Gln242=)	RARS2	Single nucleotide variant (synonymous variant +1 more)	Pontocerebellar hypoplasia type 6 +2 more	GBenign/Likely benign
Select item 130098	NM_020320.5(RARS2):c.703G>A (p.Val235Met)	RARS2 (V235M +1 more)	Single nucleotide variant (missense variant +1 more)	RARS2-related condition +3 more	GBenign
Select item 130096	NM_020320.5(RARS2):c.606C>T (p.Leu202=)	RARS2	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign
Select item 436508	NM_020320.5(RARS2):c.370del (p.Gln124fs)	RARS2 (Q124fs)	Deletion (5 prime UTR variant +2 more)	Pontocerebellar hypoplasia type 6	GLikely pathogenic
Select item 130094	NM_020320.5(RARS2):c.155A>T (p.Lys52Ile)	RARS2 (K52I)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified +2 more	GBenign
Select item 130097	NM_020320.5(RARS2):c.63A>G (p.Pro21=)	RARS2	Single nucleotide variant (5 prime UTR variant +3 more)	not specified +2 more	GBenign/Likely benign
Select item 974848	NM_020320.5(RARS2):c.1A>T (p.Met1Leu)	RARS2 (M1L)	Single nucleotide variant (5 prime UTR variant +3 more)	Pontocerebellar hypoplasia type 6 +1 more	GPathogenic/Likely pathogenic
Select item 802251	NM_020320.5(RARS2):c.-2A>G	RARS2	Single nucleotide variant (5 prime UTR variant +1 more)	Pontocerebellar hypoplasia type 6 +1 more	GConflicting classifications of pathogenicity
Select item 138893	NM_020320.5(RARS2):c.-8A>C	RARS2	Single nucleotide variant (5 prime UTR variant +1 more)	RARS2-related condition +2 more	GBenign/Likely benign