"PreventionGenetics, part of Exact Sciences"[submitter] AND "YARS1"[ge - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 297149	NM_003680.4(YARS1):c.1374G>A (p.Pro458=)	YARS1	Single nucleotide variant (synonymous variant)	YARS1-related condition +3 more	GBenign/Likely benign
Select item 1681480	NM_003680.4(YARS1):c.1333A>G (p.Ile445Val)	YARS1 (I445V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 464873	NM_003680.4(YARS1):c.1291A>T (p.Met431Leu)	YARS1 (M431L)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate C +3 more	GConflicting classifications of pathogenicity
Select item 464871	NM_003680.4(YARS1):c.1082A>T (p.Glu361Val)	YARS1 (E361V)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 3045241	NM_003680.4(YARS1):c.1026A>G (p.Pro342=)	YARS1	Single nucleotide variant (synonymous variant)	YARS1-related condition	GLikely benign
Select item 1145987	NM_003680.4(YARS1):c.821-7C>T	LOC126805688, YARS1	Single nucleotide variant (intron variant)	YARS1-related condition +1 more	GLikely benign
Select item 3061062	NM_003680.4(YARS1):c.761del (p.Asn254fs)	LOC126805688, YARS1 (N254fs)	Deletion (frameshift variant)	YARS1-related condition	GUncertain significance
Select item 216575	NM_003680.4(YARS1):c.546A>G (p.Gln182=)	YARS1	Single nucleotide variant (synonymous variant)	YARS1-related condition +2 more	GLikely benign
Select item 696632	NM_003680.4(YARS1):c.505C>T (p.Leu169=)	YARS1	Single nucleotide variant (synonymous variant)	YARS1-related condition +1 more	GBenign/Likely benign
Select item 3036443	NM_003680.4(YARS1):c.258A>G (p.Pro86=)	YARS1	Single nucleotide variant (synonymous variant)	YARS1-related condition	GLikely benign
Select item 1115552	NM_003680.4(YARS1):c.102G>A (p.Arg34=)	YARS1	Single nucleotide variant (synonymous variant)	YARS1-related condition +1 more	GLikely benign