"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "RARS2"[gene] - ClinVar - NCBI

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Items: 11

	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)	Pontocerebellar hypoplasia type 6 +3 more	GBenign/Likely benign
Select item 909638	NM_020320.5(RARS2):c.1367G>A (p.Arg456His)	RARS2 (R281H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 130100	NM_020320.5(RARS2):c.991A>G (p.Ile331Val)	RARS2 (I331V +1 more)	Single nucleotide variant (missense variant +1 more)	Pontocerebellar hypoplasia type 6 +2 more	GBenign/Likely benign
Select item 130099	NM_020320.5(RARS2):c.872A>G (p.Lys291Arg)	RARS2 (K291R +1 more)	Single nucleotide variant (missense variant +1 more)	Pontocerebellar hypoplasia type 6 +1 more	GBenign
Select item 130098	NM_020320.5(RARS2):c.703G>A (p.Val235Met)	RARS2 (V235M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign
Select item 130096	NM_020320.5(RARS2):c.606C>T (p.Leu202=)	RARS2	Single nucleotide variant (synonymous variant +1 more)	Pontocerebellar hypoplasia type 6 +2 more	GBenign
Select item 2682943	NM_020320.5(RARS2):c.569A>G (p.Tyr190Cys)	RARS2 (Y15C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 138891	NM_020320.5(RARS2):c.456T>C (p.Asn152=)	RARS2	Single nucleotide variant (5 prime UTR variant +2 more)	Pontocerebellar hypoplasia type 6 +2 more	GConflicting classifications of pathogenicity
Select item 130094	NM_020320.5(RARS2):c.155A>T (p.Lys52Ile)	RARS2 (K52I)	Single nucleotide variant (5 prime UTR variant +2 more)	Pontocerebellar hypoplasia type 6 +2 more	GBenign
Select item 195354	NM_020320.5(RARS2):c.78A>C (p.Thr26=)	RARS2	Single nucleotide variant (5 prime UTR variant +3 more)	Pontocerebellar hypoplasia type 6 +1 more	GConflicting classifications of pathogenicity
Select item 130097	NM_020320.5(RARS2):c.63A>G (p.Pro21=)	RARS2	Single nucleotide variant (5 prime UTR variant +3 more)	Pontocerebellar hypoplasia type 6 +2 more	GBenign/Likely benign