"GeneDx"[submitter] AND "PARS2"[gene] - ClinVar

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Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58079	GRCh38/hg38 1p32.3-31.1(chr1:52595352-76767765)x3	ACADM, ACOT11 +570 more	Copy number gain	See cases	GPathogenic
Select item 59968	GRCh38/hg38 1p32.3-31.3(chr1:53738212-61439648)x1	ACOT11, BSND +205 more	Copy number loss	See cases	GPathogenic
Select item 1189621	NM_152268.4(PARS2):c.*239T>G	PARS2	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1265293	NM_152268.4(PARS2):c.*217G>A	PARS2	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1205761	NM_152268.4(PARS2):c.*210C>T	PARS2	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1201465	NM_152268.4(PARS2):c.*145A>G	PARS2	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 506539	NM_152268.4(PARS2):c.1311C>G (p.Gly437=)	PARS2	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 669154	NM_152268.4(PARS2):c.1305C>T (p.Ile435=)	PARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 386357	NM_152268.4(PARS2):c.1299G>A (p.Val433=)	PARS2	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 384978	NM_152268.4(PARS2):c.1254C>T (p.Ile418=)	PARS2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 512919	NM_152268.4(PARS2):c.1177C>T (p.Leu393=)	PARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1711920	NM_152268.4(PARS2):c.1162G>A (p.Glu388Lys)	PARS2 (E388K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 381172	NM_152268.4(PARS2):c.1158C>T (p.Ala386=)	PARS2	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1223582	NM_152268.4(PARS2):c.1154C>T (p.Ala385Val)	PARS2 (A385V)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 507442	NM_152268.4(PARS2):c.1116C>T (p.Ala372=)	PARS2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
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 2582051	NM_152268.4(PARS2):c.1021G>A (p.Gly341Ser)	PARS2 (G341S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1698984	NM_152268.4(PARS2):c.874T>C (p.Cys292Arg)	PARS2 (C292R)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 75 +1 more	GUncertain significance
Select item 1806505	NM_152268.4(PARS2):c.872A>G (p.Asn291Ser)	PARS2 (N291S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 380172	NM_152268.4(PARS2):c.843C>T (p.Asn281=)	PARS2	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 507989	NM_152268.4(PARS2):c.840C>T (p.Ala280=)	PARS2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1301816	NM_152268.4(PARS2):c.706A>G (p.Lys236Glu)	PARS2 (K236E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 380003	NM_152268.4(PARS2):c.704A>G (p.Asn235Ser)	PARS2 (N235S)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
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 998656	NM_152268.4(PARS2):c.556A>G (p.Arg186Gly)	PARS2 (R186G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 381439	NM_152268.4(PARS2):c.489G>A (p.Thr163=)	PARS2	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 3340626	NM_152268.4(PARS2):c.401G>A (p.Trp134Ter)	PARS2 (W134*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 489035	NM_152268.4(PARS2):c.383G>A (p.Trp128Ter)	PARS2 (W128*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 432121	NM_152268.4(PARS2):c.283G>A (p.Val95Ile)	PARS2 (V95I)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 75 +1 more	GConflicting classifications of pathogenicity
Select item 1310276	NM_152268.4(PARS2):c.209G>C (p.Ser70Thr)	PARS2 (S70T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1505660	NM_152268.4(PARS2):c.163C>T (p.Arg55Trp)	PARS2 (R55W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 384224	NM_152268.4(PARS2):c.150C>T (p.Asn50=)	PARS2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1380810	NM_152268.4(PARS2):c.131G>A (p.Arg44His)	PARS2 (R44H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1308732	NM_152268.4(PARS2):c.131G>T (p.Arg44Leu)	PARS2 (R44L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3340199	NM_152268.4(PARS2):c.112C>T (p.Arg38Trp)	PARS2 (R38W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 420720	NM_152268.4(PARS2):c.103AGA[1] (p.Arg36del)	PARS2 (R36del)	Microsatellite (inframe_deletion)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 380002	NM_152268.4(PARS2):c.84G>T (p.Arg28Ser)	PARS2 (R28S)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 381204	NM_152268.4(PARS2):c.62T>G (p.Leu21Arg)	PARS2 (L21R)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 508208	NM_152268.4(PARS2):c.-15C>T	PARS2	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 668495	NM_152268.4(PARS2):c.-27G>A	PARS2	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1219253	NM_152268.4(PARS2):c.-29-153T>C	PARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1262025	NM_152268.4(PARS2):c.-29-162G>C	PARS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235619	NM_152268.4(PARS2):c.-29-166G>A	PARS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 683316	NM_152268.4(PARS2):c.-29-216A>G	PARS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 671511	NM_152268.4(PARS2):c.-29-226G>A	PARS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 386608	NM_152268.4(PARS2):c.-30+20T>C	PARS2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 514451	NM_152268.4(PARS2):c.-30+11G>A	PARS2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 668494	NM_152268.4(PARS2):c.-31C>T	PARS2	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1326426	NC_000001.11:g.54764554G>A	PARS2	Single nucleotide variant	not provided	GBenign
Select item 1256799	NC_000001.11:g.54764560T>C	PARS2	Single nucleotide variant	not provided	GBenign
Select item 1326593	NC_000001.11:g.54764662G>C	PARS2	Single nucleotide variant	not provided	GBenign

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Items: 53