"GeneDx"[submitter] AND "WARS1"[gene] - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58526	GRCh38/hg38 14q31.3-32.33(chr14:86094030-106832642)x3	LOC130056392, LOC130056393 +1073 more	Copy number gain	See cases	GPathogenic
Select item 58527	GRCh38/hg38 14q32.12-32.33(chr14:91455861-106832642)x3	IGHD5-18, IGHD5-24 +881 more	Copy number gain	See cases	GPathogenic
Select item 2581995	NM_004184.4(WARS1):c.1306G>A (p.Glu436Lys)	WARS1 (E395K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364363	NM_004184.4(WARS1):c.1274T>C (p.Met425Thr)	WARS1 (M384T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1251090	NM_004184.4(WARS1):c.1255-50A>G	WARS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225395	NM_004184.4(WARS1):c.1255-128C>G	WARS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262867	NM_004184.4(WARS1):c.1255-171T>C	WARS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252470	NM_004184.4(WARS1):c.1254+35T>C	WARS1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1267941	NM_004184.4(WARS1):c.1114-116G>T	WARS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251869	NM_004184.4(WARS1):c.1114-143A>G	WARS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269460	NM_004184.4(WARS1):c.1114-203G>C	WARS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265241	NM_004184.4(WARS1):c.1003C>T (p.Leu335=)	WARS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1248838	NM_004184.4(WARS1):c.940-137_940-136dup	WARS1	Duplication (intron variant)	not provided	GBenign
Select item 1273500	NM_004184.4(WARS1):c.940-157T>A	WARS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1178170	NM_004184.4(WARS1):c.826+6A>G	WARS1	Single nucleotide variant (intron variant)	Neuronopathy, distal hereditary motor, type 9 +1 more	GBenign
Select item 2504782	NM_004184.4(WARS1):c.713T>A (p.Leu238Gln)	WARS1 (L197Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3373571	NM_004184.4(WARS1):c.709G>C (p.Asp237His)	WARS1 (D196H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2577718	NM_004184.4(WARS1):c.561_564delinsAAA (p.Phe187fs)	WARS1 (F146fs +1 more)	Indel (frameshift variant)	not provided	GUncertain significance
Select item 3364362	NM_004184.4(WARS1):c.543-2A>G	WARS1	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 1246611	NM_004184.4(WARS1):c.423-77C>T	WARS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233169	NM_004184.4(WARS1):c.422+118G>C	WARS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280024	NM_004184.4(WARS1):c.100-139A>G	WARS1	Single nucleotide variant (intron variant)	not provided	GBenign

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Items: 22