"Ambry Genetics"[submitter] AND "PARS2"[gene] - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3208845	NM_152268.4(PARS2):c.1364G>A (p.Gly455Asp)	PARS2 (G455D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3304416	NM_152268.4(PARS2):c.1340T>G (p.Phe447Cys)	PARS2 (F447C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1484832	NM_152268.4(PARS2):c.1255G>A (p.Gly419Arg)	PARS2 (G419R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 998644	NM_152268.4(PARS2):c.1114G>A (p.Ala372Thr)	PARS2 (A372T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 632566	NM_152268.4(PARS2):c.1091C>G (p.Pro364Arg)	PARS2 (P364R)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 75 +3 more	GConflicting classifications of pathogenicity
Select item 1086760	NM_152268.4(PARS2):c.1075G>T (p.Asp359Tyr)	PARS2 (D359Y)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2150280	NM_152268.4(PARS2):c.1070C>T (p.Thr357Ile)	PARS2 (T357I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3208847	NM_152268.4(PARS2):c.995C>T (p.Pro332Leu)	PARS2 (P332L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2519776	NM_152268.4(PARS2):c.973T>G (p.Phe325Val)	PARS2 (F325V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 520548	NM_152268.4(PARS2):c.865C>T (p.Gln289Ter)	PARS2 (Q289*)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GLikely pathogenic
Select item 183149	NM_152268.4(PARS2):c.836C>T (p.Ser279Leu)	PARS2 (S279L)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 75 +1 more	GConflicting classifications of pathogenicity
Select item 2555859	NM_152268.4(PARS2):c.788T>C (p.Val263Ala)	PARS2 (V263A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2272109	NM_152268.4(PARS2):c.758G>A (p.Gly253Asp)	PARS2 (G253D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1381027	NM_152268.4(PARS2):c.754G>A (p.Gly252Arg)	PARS2 (G252R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2314621	NM_152268.4(PARS2):c.749C>T (p.Thr250Ile)	PARS2 (T250I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2232039	NM_152268.4(PARS2):c.602G>A (p.Gly201Asp)	PARS2 (G201D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2273073	NM_152268.4(PARS2):c.598C>T (p.Arg200Cys)	PARS2 (R200C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1436591	NM_152268.4(PARS2):c.584G>A (p.Arg195His)	PARS2 (R195H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2261454	NM_152268.4(PARS2):c.574C>A (p.Pro192Thr)	PARS2 (P192T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2494406	NM_152268.4(PARS2):c.568G>C (p.Asp190His)	PARS2 (D190H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1191474	NM_152268.4(PARS2):c.560A>G (p.Lys187Arg)	PARS2 (K187R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1900315	NM_152268.4(PARS2):c.557G>A (p.Arg186Lys)	PARS2 (R186K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2335828	NM_152268.4(PARS2):c.523A>C (p.Lys175Gln)	PARS2 (K175Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2422032	NM_152268.4(PARS2):c.371C>T (p.Pro124Leu)	PARS2 (P124L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 520549	NM_152268.4(PARS2):c.323A>G (p.Glu108Gly)	PARS2 (E108G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2382448	NM_152268.4(PARS2):c.308G>A (p.Arg103Gln)	PARS2 (R103Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2228634	NM_152268.4(PARS2):c.294G>A (p.Met98Ile)	PARS2 (M98I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3065467	NM_152268.4(PARS2):c.287G>A (p.Arg96His)	PARS2 (R96H)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 75 +1 more	GUncertain significance
Select item 2535354	NM_152268.4(PARS2):c.235C>G (p.Leu79Val)	PARS2 (L79V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3208846	NM_152268.4(PARS2):c.154C>T (p.Arg52Trp)	PARS2 (R52W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1501238	NM_152268.4(PARS2):c.150C>A (p.Asn50Lys)	PARS2 (N50K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2547265	NM_152268.4(PARS2):c.115C>T (p.Arg39Cys)	PARS2 (R39C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1346155	NM_152268.4(PARS2):c.65C>G (p.Ser22Cys)	PARS2 (S22C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2330511	NM_152268.4(PARS2):c.60G>C (p.Gln20His)	PARS2 (Q20H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2175512	NM_152268.4(PARS2):c.46A>G (p.Thr16Ala)	PARS2 (T16A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2555174	NM_152268.4(PARS2):c.34C>T (p.Pro12Ser)	PARS2 (P12S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2555173	NM_152268.4(PARS2):c.33G>T (p.Leu11Phe)	PARS2 (L11F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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Items: 37