Related gene-specific medical variations for Gene (Select 10352) - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3360454	NM_015836.4(WARS2):c.818C>T (p.Ser273Phe)	WARS2 (S179F +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3359234	NM_015836.4(WARS2):c.161G>A (p.Gly54Glu)	WARS2 (G31E +1 more)	Single nucleotide variant (missense variant +2 more)	WARS2-related disorder	GLikely pathogenic
Select item 3247994	NC_000001.10:g.(?_119683158)_(119683267_?)dup	WARS2	Duplication	not provided	GUncertain significance
Select item 3233281	NM_015836.4(WARS2):c.37T>A (p.Trp13Arg)	LOC129931299, WARS2 +1 more (W13R)	Single nucleotide variant (non-coding transcript variant +2 more)	Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures	GLikely pathogenic
Select item 3189511	NM_015836.4(WARS2):c.48C>G (p.Ile16Met)	LOC129931299, WARS2 +1 more (I16M)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3062622	GRCh37/hg19 1p12(chr1:119666080-119703349)x1	WARS2	Copy number loss	not specified	GUncertain significance
Select item 2438556	NM_015836.4(WARS2):c.844G>A (p.Val282Met)	WARS2 (V188M +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2414316	NM_015836.4(WARS2):c.27G>T (p.Ala9=)	LOC129931299, WARS2 +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 2407993	NM_015836.4(WARS2):c.90+2T>A	LOC129931299, WARS2 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2336895	NM_015836.4(WARS2):c.46A>T (p.Ile16Phe)	LOC129931299, WARS2 +1 more (I16F)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2283912	NM_015836.4(WARS2):c.24A>T (p.Lys8Asn)	LOC129931299, WARS2 +1 more (K8N)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2052383	NM_015836.4(WARS2):c.34C>T (p.Arg12Cys)	LOC129931299, WARS2 +1 more (R12C)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 1947813	NM_015836.4(WARS2):c.37T>C (p.Trp13Arg)	LOC129931299, WARS2 +1 more (W13R)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1935818	NM_015836.4(WARS2):c.20G>A (p.Arg7Gln)	LOC129931299, WARS2 +1 more (R7Q)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1934207	NM_015836.4(WARS2):c.47T>C (p.Ile16Thr)	LOC129931299, WARS2 +1 more (I16T)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 1926744	NM_015836.4(WARS2):c.10C>T (p.His4Tyr)	LOC129931299, WARS2 +1 more (H4Y)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 1918446	NM_015836.4(WARS2):c.90+16C>G	WARS2, WARS2-AS1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1907906	NM_015836.4(WARS2):c.9G>A (p.Leu3=)	LOC129931299, WARS2 +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 1627066	NM_015836.4(WARS2):c.84T>A (p.Ala28=)	LOC129931299, WARS2 +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 1601658	NM_015836.4(WARS2):c.51G>A (p.Arg17=)	LOC129931299, WARS2 +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GBenign/Likely benign
Select item 1539392	NM_015836.4(WARS2):c.90+10G>A	LOC129931299, WARS2 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1341956	NG_050658.1:g.(5235_69181)_(69440_100126)del	WARS2	Deletion	Parkinsonism-dystonia 3, childhood-onset	GPathogenic
Select item 1227609	NM_015836.4(WARS2):c.90+115C>T	LOC129931299, WARS2 +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GBenign
Select item 440915	NM_015836.4(WARS2):c.37T>G (p.Trp13Gly)	LOC129931299, WARS2 +1 more (W13G)	Single nucleotide variant (missense variant +2 more)	not provided +5 more	GConflicting classifications of pathogenicity

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Links from Gene

Items: 24