"Molecular Genetics Laboratory, London Health Sciences Centre"[submitt - ClinVar

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Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 917322	NM_002047.4(GARS1):c.-14A>G	GARS1	Single nucleotide variant (5 prime UTR variant)	Charcot-Marie-Tooth disease	GLikely benign
Select item 220422	NM_002047.4(GARS1):c.11C>T (p.Pro4Leu)	GARS1 (P4L)	Single nucleotide variant (5 prime UTR variant +1 more)	Neuronopathy, distal hereditary motor, type 5A +6 more	GBenign/Likely benign
Select item 657471	NM_002047.4(GARS1):c.19G>T (p.Val7Leu)	GARS1 (V7L)	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth disease +2 more	GConflicting classifications of pathogenicity
Select item 137444	NM_002047.4(GARS1):c.93G>C (p.Leu31=)	GARS1	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 2 +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)	not specified +7 more	GBenign
Select item 917320	NM_002047.4(GARS1):c.129G>T (p.Pro43=)	GARS1	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth disease	GLikely benign
Select item 137439	NM_002047.4(GARS1):c.222+5C>T	GARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2 +5 more	GBenign
Select item 360002	NM_002047.4(GARS1):c.270C>T (p.Asp90=)	GARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2 +6 more	GBenign/Likely benign
Select item 917319	NM_002047.4(GARS1):c.282A>G (p.Ala94=)	GARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease +1 more	GLikely benign
Select item 665249	NM_002047.4(GARS1):c.301C>T (p.Arg101Cys)	GARS1 (R47C +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease +2 more	GConflicting classifications of pathogenicity
Select item 385077	NM_002047.4(GARS1):c.408A>G (p.Gln136=)	GARS1	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 377912	NM_002047.4(GARS1):c.428-17C>T	GARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2 +2 more	GLikely benign
Select item 360004	NM_002047.4(GARS1):c.699C>T (p.Val233=)	GARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2 +6 more	GBenign/Likely benign
Select item 258538	NM_002047.4(GARS1):c.747T>C (p.Tyr249=)	GARS1	Single nucleotide variant (synonymous variant)	Neuronopathy, distal hereditary motor, type 5A +6 more	GBenign
Select item 360005	NM_002047.4(GARS1):c.764C>T (p.Ala255Val)	GARS1 (A255V +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +5 more	GConflicting classifications of pathogenicity
Select item 188100	NM_002047.4(GARS1):c.803C>T (p.Thr268Ile)	GARS1 (T268I +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease +6 more	GBenign/Likely benign
Select item 258539	NM_002047.4(GARS1):c.816A>G (p.Leu272=)	GARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease +2 more	GLikely benign
Select item 916883	NM_002047.4(GARS1):c.881+17G>A	GARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2 +1 more	GLikely benign
Select item 258530	NM_002047.4(GARS1):c.1031+14T>G	GARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease +6 more	GBenign/Likely benign
Select item 917321	NM_002047.4(GARS1):c.1032-14G>A	GARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease +1 more	GLikely benign
Select item 137440	NM_002047.4(GARS1):c.1062T>C (p.Phe354=)	GARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2 +6 more	GBenign
Select item 379179	NM_002047.4(GARS1):c.1158C>T (p.Ser386=)	GARS1	Single nucleotide variant (synonymous variant)	not specified +3 more	GLikely benign
Select item 360012	NM_002047.4(GARS1):c.1163G>A (p.Arg388Gln)	GARS1 (R388Q +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +6 more	GBenign/Likely benign
Select item 360013	NM_002047.4(GARS1):c.1420C>A (p.Arg474=)	GARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2 +6 more	GBenign/Likely benign
Select item 917315	NM_002047.4(GARS1):c.1426A>T (p.Thr476Ser)	GARS1 (T422S +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 917316	NM_002047.4(GARS1):c.1429A>G (p.Lys477Glu)	GARS1 (K423E +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 137441	NM_002047.4(GARS1):c.1613+9T>C	GARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease +6 more	GBenign
Select item 194203	NM_002047.4(GARS1):c.1614-4G>C	GARS1	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 916881	NM_002047.4(GARS1):c.1644A>G (p.Thr548=)	GARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2 +1 more	GLikely benign
Select item 916885	NM_002047.4(GARS1):c.1700-13A>G	GARS1	Single nucleotide variant (intron variant)	not provided +2 more	GLikely benign
Select item 194367	NM_002047.4(GARS1):c.1716G>A (p.Pro572=)	GARS1	Single nucleotide variant (synonymous variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 258534	NM_002047.4(GARS1):c.1737C>T (p.Phe579=)	GARS1	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 705450	NM_002047.4(GARS1):c.1743G>C (p.Leu581=)	GARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease +1 more	GLikely benign
Select item 360015	NM_002047.4(GARS1):c.1761G>A (p.Thr587=)	GARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2 +6 more	GBenign
Select item 916884	NM_002047.4(GARS1):c.1809+8G>C	GARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease	GLikely benign
Select item 916880	NM_002047.4(GARS1):c.1809+13G>A	GARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease	GLikely benign
Select item 360016	NM_002047.4(GARS1):c.1809+14T>C	GARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2 +5 more	GConflicting classifications of pathogenicity
Select item 917318	NM_002047.4(GARS1):c.1809+16C>T	GARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease +1 more	GLikely benign
Select item 137442	NM_002047.4(GARS1):c.1833T>C (p.Val611=)	GARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease +6 more	GBenign
Select item 916882	NM_002047.4(GARS1):c.1904-19C>T	GARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2 +1 more	GLikely benign
Select item 420733	NM_002047.4(GARS1):c.1904-19del	GARS1	Deletion (intron variant)	not specified +2 more	GLikely benign
Select item 509792	NM_002047.4(GARS1):c.1904-18T>C	GARS1	Single nucleotide variant (intron variant)	not provided +2 more	GLikely benign
Select item 219915	NM_002047.4(GARS1):c.1962C>T (p.Ile654=)	GARS1	Single nucleotide variant (synonymous variant)	not provided +6 more	GBenign/Likely benign
Select item 258536	NM_002047.4(GARS1):c.2095-6C>T	GARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease +7 more	GBenign
Select item 137443	NM_002047.4(GARS1):c.2145A>G (p.Thr715=)	GARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease +5 more	GBenign
Select item 917317	NM_002047.4(GARS1):c.2206A>C (p.Thr736Pro)	GARS1 (T682P +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease	GUncertain significance

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Items: 46