"Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 220422	NM_002047.4(GARS1):c.11C>T (p.Pro4Leu)	GARS1 (P4L)	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth disease +6 more	GBenign/Likely benign
Select item 137444	NM_002047.4(GARS1):c.93G>C (p.Leu31=)	GARS1	Single nucleotide variant (5 prime UTR variant +1 more)	Distal spinal muscular atrophy +5 more	GBenign
Select item 258532	NM_002047.4(GARS1):c.124C>G (p.Pro42Ala)	GARS1 (P42A)	Single nucleotide variant (5 prime UTR variant +1 more)	Spinal muscular atrophy, infantile, James type +7 more	GBenign
Select item 137439	NM_002047.4(GARS1):c.222+5C>T	GARS1	Single nucleotide variant (intron variant)	Distal spinal muscular atrophy +5 more	GBenign
Select item 188197	NM_002047.4(GARS1):c.236G>A (p.Arg79Gln)	GARS1 (R79Q +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 137440	NM_002047.4(GARS1):c.1062T>C (p.Phe354=)	GARS1	Single nucleotide variant (synonymous variant)	Distal spinal muscular atrophy +6 more	GBenign
Select item 137441	NM_002047.4(GARS1):c.1613+9T>C	GARS1	Single nucleotide variant (intron variant)	Distal spinal muscular atrophy +6 more	GBenign
Select item 137442	NM_002047.4(GARS1):c.1833T>C (p.Val611=)	GARS1	Single nucleotide variant (synonymous variant)	Distal spinal muscular atrophy +6 more	GBenign
Select item 258536	NM_002047.4(GARS1):c.2095-6C>T	GARS1	Single nucleotide variant (intron variant)	not provided +7 more	GBenign
Select item 137443	NM_002047.4(GARS1):c.2145A>G (p.Thr715=)	GARS1	Single nucleotide variant (synonymous variant)	Distal spinal muscular atrophy +5 more	GBenign