FARS2[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1329641	NM_001318872.2(FARS2):c.-73C>T	FARS2	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1257643	NM_006567.4(FARS2):c.-340T>C	FARS2	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1250689	NM_006567.4(FARS2):c.-314T>C	FARS2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1243161	NM_006567.4(FARS2):c.-312T>C	FARS2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1182999	NM_006567.4(FARS2):c.-307T>C	FARS2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1190549	NM_006567.4(FARS2):c.-262G>C	FARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1291334	NM_006567.4(FARS2):c.-234A>G	FARS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288931	NM_006567.5(FARS2):c.-70A>G	FARS2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1248756	NM_006567.5(FARS2):c.-22+94A>T	FARS2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 680949	NM_006567.5(FARS2):c.613-315T>A	FARS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 680633	NM_006567.5(FARS2):c.613-188C>T	FARS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 583751	NC_000006.12:g.(?_5404522)_(5404721_?)del	FARS2	Deletion	Combined oxidative phosphorylation defect type 14	GPathogenic
Select item 2964974	NM_006567.5(FARS2):c.613-18T>C	FARS2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 14	GLikely benign
Select item 2832641	NM_006567.5(FARS2):c.613-15C>A	FARS2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 14	GLikely benign
Select item 2789695	NM_006567.5(FARS2):c.613-13T>C	FARS2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 14	GLikely benign
Select item 587655	NM_006567.5(FARS2):c.613-11T>C	FARS2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 14	GLikely benign
Select item 2746945	NM_006567.5(FARS2):c.613-10T>G	FARS2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 14	GLikely benign
Select item 2796234	NM_006567.5(FARS2):c.613-9G>C	FARS2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 14	GLikely benign
Select item 473313	NM_006567.5(FARS2):c.613-4A>G	FARS2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 14	GLikely benign
Select item 2079397	NM_006567.5(FARS2):c.613-2A>G	FARS2	Single nucleotide variant (splice acceptor variant)	Combined oxidative phosphorylation defect type 14	GLikely pathogenic
Select item 1993204	NM_006567.5(FARS2):c.619G>T (p.Ala207Ser)	FARS2 (A207S)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation defect type 14	GUncertain significance
Select item 1587587	NM_006567.5(FARS2):c.621T>G (p.Ala207=)	FARS2	Single nucleotide variant (synonymous variant +1 more)	Combined oxidative phosphorylation defect type 14	GLikely benign
Select item 956703	NM_006567.5(FARS2):c.625A>G (p.Ile209Val)	FARS2 (I209V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1471886	NM_006567.5(FARS2):c.626T>C (p.Ile209Thr)	FARS2 (I209T)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation defect type 14	GUncertain significance
Select item 850224	NM_006567.5(FARS2):c.629A>G (p.Lys210Arg)	FARS2 (K210R)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation defect type 14 +1 more	GUncertain significance
Select item 1023378	NM_006567.5(FARS2):c.630G>C (p.Lys210Asn)	FARS2 (K210N)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation defect type 14	GUncertain significance
Select item 1952298	NM_006567.5(FARS2):c.631G>A (p.Asp211Asn)	FARS2 (D211N)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation defect type 14	GUncertain significance
Select item 1328381	NM_006567.5(FARS2):c.634G>A (p.Gly212Arg)	FARS2 (G212R)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation defect type 14	GUncertain significance
Select item 587656	NM_006567.5(FARS2):c.638A>G (p.Glu213Gly)	FARS2 (E213G)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation defect type 14	GUncertain significance
Select item 389162	NM_006567.5(FARS2):c.646C>T (p.Gln216Ter)	FARS2 (Q216*)	Single nucleotide variant (nonsense +1 more)	not provided +2 more	GPathogenic
Select item 846039	NM_006567.5(FARS2):c.649C>G (p.Leu217Val)	FARS2 (L217V)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation defect type 14	GUncertain significance
Select item 2898667	NM_006567.5(FARS2):c.651C>G (p.Leu217=)	FARS2	Single nucleotide variant (synonymous variant +1 more)	Combined oxidative phosphorylation defect type 14	GLikely benign
Select item 1004291	NM_006567.5(FARS2):c.655G>C (p.Glu219Gln)	FARS2 (E219Q)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation defect type 14	GUncertain significance
Select item 214330	NM_006567.5(FARS2):c.667C>T (p.Arg223Cys)	FARS2 (R223C)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation defect type 14 +1 more	GConflicting classifications of pathogenicity
Select item 1418446	NM_006567.5(FARS2):c.668G>C (p.Arg223Pro)	FARS2 (R223P)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation defect type 14	GUncertain significance
Select item 999183	NM_006567.5(FARS2):c.668G>A (p.Arg223His)	FARS2 (R223H)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation defect type 14	GUncertain significance
Select item 1100872	NM_006567.5(FARS2):c.672T>C (p.Ser224=)	FARS2	Single nucleotide variant (synonymous variant +1 more)	Combined oxidative phosphorylation defect type 14	GLikely benign
Select item 952062	NM_006567.5(FARS2):c.673G>A (p.Ala225Thr)	FARS2 (A225T)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation defect type 14	GUncertain significance
Select item 950156	NM_006567.5(FARS2):c.674C>T (p.Ala225Val)	FARS2 (A225V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 786821	NM_006567.5(FARS2):c.675G>A (p.Ala225=)	FARS2	Single nucleotide variant (synonymous variant +1 more)	Combined oxidative phosphorylation defect type 14	GLikely benign
Select item 473314	NM_006567.5(FARS2):c.676C>T (p.His226Tyr)	FARS2 (H226Y)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation defect type 14	GConflicting classifications of pathogenicity
Select item 659421	NM_006567.5(FARS2):c.692A>T (p.His231Leu)	FARS2 (H231L)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation defect type 14	GUncertain significance
Select item 1452947	NM_006567.5(FARS2):c.694del (p.Thr232fs)	FARS2 (T232fs)	Deletion (frameshift variant +1 more)	Combined oxidative phosphorylation defect type 14	GPathogenic
Select item 834424	NM_006567.5(FARS2):c.694A>G (p.Thr232Ala)	FARS2 (T232A)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation defect type 14	GUncertain significance
Select item 1155018	NM_006567.5(FARS2):c.696C>T (p.Thr232=)	FARS2	Single nucleotide variant (synonymous variant +1 more)	Combined oxidative phosphorylation defect type 14	GLikely benign
Select item 2232075	NM_006567.5(FARS2):c.697A>G (p.Met233Val)	FARS2 (M1V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1485467	NM_006567.5(FARS2):c.698T>C (p.Met233Thr)	FARS2 (M1T +1 more)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation defect type 14	GUncertain significance
Select item 1491260	NM_006567.5(FARS2):c.700G>A (p.Glu234Lys)	FARS2 (E234K +1 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 14 +1 more	GUncertain significance
Select item 1427586	NM_006567.5(FARS2):c.704C>T (p.Ala235Val)	FARS2 (A235V +1 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 14	GUncertain significance
Select item 1616644	NM_006567.5(FARS2):c.705C>T (p.Ala235=)	FARS2	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation defect type 14	GLikely benign
Select item 587657	NM_006567.5(FARS2):c.706G>A (p.Val236Met)	FARS2 (V236M +1 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 14	GUncertain significance
Select item 2891865	NM_006567.5(FARS2):c.726T>C (p.Asp242=)	FARS2	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation defect type 14	GLikely benign
Select item 540538	NM_006567.5(FARS2):c.730A>C (p.Lys244Gln)	FARS2 (K244Q +1 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 14	GUncertain significance
Select item 1528213	NM_006567.5(FARS2):c.735A>G (p.Gln245=)	FARS2	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation defect type 14	GLikely benign
Select item 137291	NM_006567.5(FARS2):c.737C>T (p.Thr246Met)	FARS2 (T246M +1 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 14 +2 more	GBenign/Likely benign
Select item 2073848	NM_006567.5(FARS2):c.738G>A (p.Thr246=)	FARS2	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation defect type 14	GLikely benign
Select item 587658	NM_006567.5(FARS2):c.748C>T (p.Leu250Phe)	FARS2 (L250F +1 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 14	GUncertain significance
Select item 2044797	NM_006567.5(FARS2):c.750C>T (p.Leu250=)	FARS2	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation defect type 14	GLikely benign
Select item 473315	NM_006567.5(FARS2):c.750C>A (p.Leu250=)	FARS2	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation defect type 14	GLikely benign
Select item 1000763	NM_006567.5(FARS2):c.751A>G (p.Met251Val)	FARS2 (M19V +1 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 14	GUncertain significance
Select item 1011870	NM_006567.5(FARS2):c.752T>C (p.Met251Thr)	FARS2 (M19T +1 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 14	GUncertain significance
Select item 3277724	NM_006567.5(FARS2):c.753G>A (p.Met251Ile)	FARS2 (M19I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2325902	NM_006567.5(FARS2):c.754G>C (p.Ala252Pro)	FARS2 (A252P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 473316	NM_006567.5(FARS2):c.754G>A (p.Ala252Thr)	FARS2 (A252T +1 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 14	GUncertain significance
Select item 1015556	NM_006567.5(FARS2):c.755C>G (p.Ala252Gly)	FARS2 (A20G +1 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 14	GUncertain significance
Select item 2256868	NM_006567.5(FARS2):c.758A>G (p.His253Arg)	FARS2 (H253R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2818571	NM_006567.5(FARS2):c.768A>G (p.Gly256=)	FARS2	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation defect type 14	GLikely benign
Select item 587659	NM_006567.5(FARS2):c.768A>C (p.Gly256=)	FARS2	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation defect type 14	GBenign/Likely benign
Select item 1004049	NM_006567.5(FARS2):c.771T>C (p.Asp257=)	FARS2	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation defect type 14	GUncertain significance
Select item 2175037	NM_006567.5(FARS2):c.772+4A>G	FARS2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 14	GUncertain significance
Select item 962638	NM_006567.5(FARS2):c.772+4A>C	FARS2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 14	GUncertain significance
Select item 2883507	NM_006567.5(FARS2):c.772+7G>A	FARS2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 14	GLikely benign
Select item 2740894	NM_006567.5(FARS2):c.772+11A>T	FARS2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 14	GLikely benign
Select item 2141364	NM_006567.5(FARS2):c.772+20T>C	FARS2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 14	GLikely benign
Select item 1236007	NM_006567.5(FARS2):c.772+24C>T	FARS2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1205284	NM_006567.5(FARS2):c.772+25G>A	FARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1288038	NM_006567.5(FARS2):c.772+86dup	FARS2	Duplication (intron variant)	not provided	GBenign
Select item 1240430	NM_006567.5(FARS2):c.772+86del	FARS2	Deletion (intron variant)	not provided	GBenign
Select item 673624	NM_006567.5(FARS2):c.772+133C>T	FARS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 584077	NC_000006.11:g.(?_5431254)_(5431425_?)dup	FARS2	Duplication	Combined oxidative phosphorylation defect type 14	GUncertain significance
Select item 1962090	NM_006567.5(FARS2):c.773-17C>T	FARS2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 14	GLikely benign
Select item 2026759	NM_006567.5(FARS2):c.773-9A>C	FARS2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 14	GLikely benign
Select item 2163232	NM_006567.5(FARS2):c.773-7T>C	FARS2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 14	GLikely benign
Select item 2230519	NM_006567.5(FARS2):c.773-6T>A	FARS2	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 1134584	NM_006567.5(FARS2):c.774G>A (p.Glu258=)	FARS2	Single nucleotide variant (synonymous variant +1 more)	Combined oxidative phosphorylation defect type 14	GLikely benign
Select item 1147584	NM_006567.5(FARS2):c.775C>T (p.Leu259=)	FARS2	Single nucleotide variant (synonymous variant +1 more)	Combined oxidative phosphorylation defect type 14	GLikely benign
Select item 644233	NM_006567.5(FARS2):c.781A>G (p.Ile261Val)	FARS2 (I261V +1 more)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation defect type 14	GLikely benign
Select item 540536	NM_006567.5(FARS2):c.781A>T (p.Ile261Leu)	FARS2 (I261L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 935464	NM_006567.5(FARS2):c.786A>G (p.Arg262=)	FARS2	Single nucleotide variant (synonymous variant +1 more)	Combined oxidative phosphorylation defect type 14	GLikely benign
Select item 579997	NM_006567.5(FARS2):c.792del (p.Asp265fs)	FARS2 (D265fs +1 more)	Deletion (frameshift variant +1 more)	FARS2-related disorder +4 more	GPathogenic/Likely pathogenic
Select item 522083	NM_006567.5(FARS2):c.801C>G (p.Tyr267Ter)	FARS2 (Y267* +1 more)	Single nucleotide variant (nonsense +1 more)	Combined oxidative phosphorylation defect type 14 +1 more	GPathogenic
Select item 2805964	NM_006567.5(FARS2):c.804C>T (p.Phe268=)	FARS2	Single nucleotide variant (synonymous variant +1 more)	Combined oxidative phosphorylation defect type 14	GLikely benign
Select item 654274	NM_006567.5(FARS2):c.812del (p.Thr271fs)	FARS2 (T271fs +1 more)	Deletion (frameshift variant +1 more)	Combined oxidative phosphorylation defect type 14	GPathogenic
Select item 1489747	NM_006567.5(FARS2):c.815A>C (p.His272Pro)	FARS2 (H40P +1 more)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation defect type 14	GUncertain significance
Select item 1710020	NM_006567.5(FARS2):c.821_824del (p.Ser274fs)	FARS2 (S274fs +1 more)	Microsatellite (frameshift variant +1 more)	Combined oxidative phosphorylation defect type 14	GLikely pathogenic
Select item 587660	NM_006567.5(FARS2):c.819T>A (p.Pro273=)	FARS2	Single nucleotide variant (synonymous variant +1 more)	Combined oxidative phosphorylation defect type 14	GBenign/Likely benign
Select item 2911891	NM_006567.5(FARS2):c.829A>G (p.Met277Val)	FARS2 (M45V +1 more)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation defect type 14	GBenign
Select item 1971270	NM_006567.5(FARS2):c.835A>G (p.Ile279Val)	FARS2 (I47V +1 more)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation defect type 14	GBenign
Select item 1133119	NM_006567.5(FARS2):c.837C>T (p.Ile279=)	FARS2	Single nucleotide variant (synonymous variant +1 more)	Combined oxidative phosphorylation defect type 14	GLikely benign
Select item 576248	NM_006567.5(FARS2):c.839A>C (p.Asn280Thr)	FARS2 (N280T +1 more)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation defect type 14	GBenign

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