"GeneDx"[submitter] AND "PURA"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 489294	NM_005859.5(PURA):c.1A>G (p.Met1Val)	PURA (M1V)	Single nucleotide variant (missense variant +1 more)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome +1 more	GPathogenic/Likely pathogenic
Select item 192344	NM_005859.5(PURA):c.4_8del (p.Ala2fs)	PURA (A2fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 571407	NM_005859.5(PURA):c.10C>T (p.Arg4Ter)	PURA (R4*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1696911	NM_005859.5(PURA):c.15_16del (p.Asp5fs)	PURA (D5fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 452213	NM_005859.5(PURA):c.14_25delinsC (p.Asp5fs)	PURA (D5fs)	Indel (frameshift variant)	not provided	GPathogenic
Select item 1258872	NM_005859.5(PURA):c.27G>A (p.Glu9=)	PURA	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 3372807	NM_005859.5(PURA):c.31G>A (p.Gly11Ser)	PURA (G11S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1315424	NM_005859.5(PURA):c.34G>T (p.Gly12Cys)	PURA (G12C)	Single nucleotide variant (missense variant)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome +1 more	GUncertain significance
Select item 280744	NM_005859.5(PURA):c.42_57del (p.Leu15fs)	PURA (L15fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 817671	NM_005859.5(PURA):c.38del (p.Ala13fs)	PURA (A13fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1723468	NM_005859.5(PURA):c.41C>T (p.Ala14Val)	PURA (A14V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 817057	NM_005859.5(PURA):c.45_60dup (p.Leu21fs)	PURA (L21fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 817051	NM_005859.5(PURA):c.53dup (p.Gly19fs)	PURA (G19fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 817752	NM_005859.5(PURA):c.66dup (p.His23fs)	PURA (H23fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 421476	NM_005859.5(PURA):c.70C>G (p.Pro24Ala)	PURA (P24A)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 574765	NM_005859.5(PURA):c.78_83dup (p.26_27SG[4])	PURA	Duplication (inframe_insertion)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome +1 more	GBenign/Likely benign
Select item 861157	NM_005859.5(PURA):c.114_140del (p.Gly41_Gly49del)	PURA	Deletion (inframe_deletion)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome +1 more	GUncertain significance
Select item 577175	NM_005859.5(PURA):c.114_122del (p.Gly40_Gly42del)	PURA	Deletion (inframe_deletion)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome +2 more	GLikely benign
Select item 572221	NM_005859.5(PURA):c.110G>C (p.Gly37Ala)	PURA (G37A)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 280576	NM_005859.5(PURA):c.116dup (p.Gly40fs)	PURA (G40fs)	Duplication (frameshift variant)	PURA Syndrome +1 more	GPathogenic/Likely pathogenic
Select item 565406	NM_005859.5(PURA):c.127_141del (p.Ser43_Gly47del)	PURA	Deletion (inframe_deletion)	not provided +1 more	GLikely benign
Select item 475284	NM_005859.5(PURA):c.123_146del (p.Gly42_Gly49del)	PURA	Deletion (inframe_deletion)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome +1 more	GLikely benign
Select item 436450	NM_005859.5(PURA):c.123_128dup (p.Ser43_Gly44dup)	PURA	Duplication (inframe_insertion)	not specified +2 more	GLikely benign
Select item 1198306	NM_005859.5(PURA):c.127A>G (p.Ser43Gly)	PURA (S43G)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 436451	NM_005859.5(PURA):c.132CGG[6] (p.Gly49dup)	PURA	Microsatellite (inframe_insertion)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1131105	NM_005859.5(PURA):c.132CGG[4] (p.Gly49del)	PURA (G49del)	Microsatellite (inframe_deletion)	not provided +2 more	GBenign/Likely benign
Select item 624066	NM_005859.5(PURA):c.132CGG[3] (p.Gly48_Gly49del)	PURA	Microsatellite (inframe_deletion)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome +1 more	GLikely benign
Select item 504226	NM_005859.5(PURA):c.137del (p.Gly46fs)	PURA (G46fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 1300460	NM_005859.5(PURA):c.138C>T (p.Gly46=)	PURA	Single nucleotide variant (synonymous variant)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome +1 more	GLikely benign
Select item 663335	NM_005859.5(PURA):c.146G>T (p.Gly49Val)	PURA (G49V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 432233	NM_005859.5(PURA):c.159dup (p.Leu54fs)	PURA (L54fs)	Duplication (frameshift variant)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation +2 more	GPathogenic
Select item 426145	NM_005859.5(PURA):c.163C>T (p.Gln55Ter)	PURA (Q55*)	Single nucleotide variant (nonsense)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome +2 more	GPathogenic
Select item 1722842	NM_005859.5(PURA):c.168C>G (p.His56Gln)	PURA (H56Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1196418	NM_005859.5(PURA):c.171_172dup (p.Thr58fs)	PURA (T58fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 1302466	NM_005859.5(PURA):c.169G>C (p.Glu57Gln)	PURA (E57Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 421948	NM_005859.5(PURA):c.173_174insT (p.Gln59fs)	PURA (Q59fs)	Insertion (frameshift variant)	not provided	GPathogenic
Select item 422197	NM_005859.5(PURA):c.202A>G (p.Ile68Val)	PURA (I68V)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 489041	NM_005859.5(PURA):c.205C>T (p.Gln69Ter)	PURA (Q69*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1215278	NM_005859.5(PURA):c.211A>G (p.Lys71Glu)	PURA (K71E)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1810146	NM_005859.5(PURA):c.214C>A (p.Arg72Ser)	PURA (R72S)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 432206	NM_005859.5(PURA):c.224T>C (p.Leu75Pro)	PURA (L75P)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3343865	NM_005859.5(PURA):c.230T>A (p.Val77Glu)	PURA (V77E)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 423410	NM_005859.5(PURA):c.248del (p.Gly83fs)	PURA (G83fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 450377	NM_005859.5(PURA):c.263T>C (p.Ile88Thr)	PURA (I88T)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 419271	NM_005859.5(PURA):c.264del (p.Ile88fs)	PURA (I88fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 633531	NM_005859.5(PURA):c.265G>A (p.Ala89Thr)	PURA (A89T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 156411	NM_005859.5(PURA):c.265G>C (p.Ala89Pro)	PURA (A89P)	Single nucleotide variant (missense variant)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome +1 more	GPathogenic/Likely pathogenic
Select item 419131	NM_005859.5(PURA):c.267del (p.Glu90fs)	PURA (E90fs)	Deletion (frameshift variant)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome +1 more	GPathogenic
Select item 1308534	NM_005859.5(PURA):c.268G>A (p.Glu90Lys)	PURA (E90K)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 818050	NM_005859.5(PURA):c.281del (p.Gly94fs)	PURA (G94fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 419325	NM_005859.5(PURA):c.307_308dup (p.Met104fs)	PURA (M104fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 192340	NM_005859.5(PURA):c.302_310del (p.Thr101_Ser103del)	PURA	Deletion (inframe_deletion)	not provided	GPathogenic
Select item 192338	NM_005859.5(PURA):c.305T>G (p.Leu102Arg)	PURA (L102R)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 475286	NM_005859.5(PURA):c.321C>T (p.Ala107=)	PURA	Single nucleotide variant (synonymous variant)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome +2 more	GBenign/Likely benign
Select item 504149	NM_005859.5(PURA):c.325G>T (p.Glu109Ter)	PURA (E109*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 156408	NM_005859.5(PURA):c.363C>G (p.Tyr121Ter)	PURA (Y121*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 192345	NM_005859.5(PURA):c.379dup (p.Ser127fs)	LOC129994826, PURA (S127fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1806705	NM_005859.5(PURA):c.381C>A (p.Ser127Arg)	LOC129994826, PURA (S127R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 817473	NM_005859.5(PURA):c.407_435del (p.Gln136fs)	LOC129994826, PURA (Q136fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 192343	NM_005859.5(PURA):c.419G>C (p.Arg140Pro)	LOC129994826, PURA (R140P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 449824	NM_005859.5(PURA):c.432A>C (p.Lys144Asn)	LOC129994826, PURA (K144N)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 475287	NM_005859.5(PURA):c.450C>G (p.Arg150=)	PURA	Single nucleotide variant (synonymous variant)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome +2 more	GBenign/Likely benign
Select item 504386	NM_005859.5(PURA):c.451G>T (p.Glu151Ter)	PURA (E151*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2574538	NM_005859.5(PURA):c.458G>A (p.Arg153His)	PURA (R153H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 265539	NM_005859.5(PURA):c.458G>C (p.Arg153Pro)	PURA (R153P)	Single nucleotide variant (missense variant)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1679405	NM_005859.5(PURA):c.469A>G (p.Met157Val)	PURA (M157V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2504912	NM_005859.5(PURA):c.478A>C (p.Lys160Gln)	PURA (K160Q)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1313493	NM_005859.5(PURA):c.478A>G (p.Lys160Glu)	PURA (K160E)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 426839	NM_005859.5(PURA):c.486C>G (p.Asn162Lys)	PURA (N162K)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 451895	NM_005859.5(PURA):c.487C>T (p.Gln163Ter)	PURA (Q163*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1309267	NM_005859.5(PURA):c.494G>A (p.Gly165Asp)	PURA (G165D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 546137	NM_005859.5(PURA):c.496C>A (p.Arg166Ser)	PURA (R166S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1995788	NM_005859.5(PURA):c.508A>T (p.Ile170Phe)	PURA (I170F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3371963	NM_005859.5(PURA):c.527G>A (p.Arg176Gln)	PURA (R176Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 772324	NM_005859.5(PURA):c.528G>C (p.Arg176=)	PURA	Single nucleotide variant (synonymous variant)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome +1 more	GLikely benign
Select item 817850	NM_005859.5(PURA):c.534_555dup (p.Gln186fs)	PURA (Q186fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 475289	NM_005859.5(PURA):c.543C>T (p.Gly181=)	PURA	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 421477	NM_005859.5(PURA):c.572C>T (p.Pro191Leu)	PURA (P191L)	Single nucleotide variant (missense variant)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation +2 more	GPathogenic/Likely pathogenic
Select item 1035387	NM_005859.5(PURA):c.595C>T (p.Arg199Cys)	PURA (R199C)	Single nucleotide variant (missense variant)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome +1 more	GUncertain significance
Select item 156413	NM_005859.5(PURA):c.596G>C (p.Arg199Pro)	PURA (R199P)	Single nucleotide variant (missense variant)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1218233	NM_005859.5(PURA):c.608C>T (p.Ala203Val)	PURA (A203V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 802159	NM_005859.5(PURA):c.614T>C (p.Leu205Pro)	PURA (L205P)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 421890	NM_005859.5(PURA):c.616_618del (p.Ile206del)	PURA (I206del)	Deletion (inframe_deletion)	not provided	GLikely pathogenic
Select item 436449	NM_005859.5(PURA):c.621C>T (p.Asp207=)	PURA	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1704887	NM_005859.5(PURA):c.625T>G (p.Tyr209Asp)	PURA (Y209D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252943	NM_005859.5(PURA):c.652C>G (p.Leu218Val)	PURA (L218V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1703935	NM_005859.5(PURA):c.658G>A (p.Glu220Lys)	PURA (E220K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 424155	NM_005859.5(PURA):c.677_678del (p.Val226fs)	PURA (V226fs)	Microsatellite (frameshift variant)	not provided +3 more	GPathogenic
Select item 392795	NM_005859.5(PURA):c.685A>T (p.Lys229Ter)	PURA (K229*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 189319	NM_005859.5(PURA):c.691TTC[2] (p.Phe233del)	PURA (F233del)	Microsatellite (inframe_deletion)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome +3 more	GPathogenic/Likely pathogenic
Select item 1335851	NM_005859.5(PURA):c.692T>G (p.Phe231Cys)	PURA (F231C)	Single nucleotide variant (missense variant)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome +1 more	GConflicting classifications of pathogenicity
Select item 391357	NM_005859.5(PURA):c.704T>G (p.Val235Gly)	PURA (V235G)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 280894	NM_005859.5(PURA):c.711dup (p.Asn238fs)	PURA (N238fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 452792	NM_005859.5(PURA):c.733C>T (p.Arg245Ter)	PURA (R245*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 192346	NM_005859.5(PURA):c.745del (p.Glu248_Val249insTer)	PURA	Deletion (nonsense)	not provided	GPathogenic
Select item 422115	NM_005859.5(PURA):c.779C>T (p.Pro260Leu)	PURA (P260L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2573853	NM_005859.5(PURA):c.793G>A (p.Ala265Thr)	PURA (A265T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1217989	NM_005859.5(PURA):c.802G>T (p.Gly268Ter)	PURA (G268*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 280386	NM_005859.5(PURA):c.808_809del (p.Thr270fs)	PURA (T270fs)	Microsatellite (frameshift variant)	not provided	GLikely pathogenic

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