Related gene-specific medical variations for Gene (Select 5813) - ClinVar

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Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065244	NM_005859.5(PURA):c.309_314del (p.Met104_Ser105del)	PURA	Deletion (inframe_deletion)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GLikely pathogenic
Select item 2840996	NM_005859.5(PURA):c.433dup (p.Ser145fs)	LOC129994826, PURA (S145fs)	Duplication (frameshift variant)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GPathogenic
Select item 2818640	NM_005859.5(PURA):c.420C>G (p.Arg140=)	LOC129994826, PURA	Single nucleotide variant (synonymous variant)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GBenign
Select item 2808241	NM_005859.5(PURA):c.441C>T (p.Phe147=)	LOC129994826, PURA	Single nucleotide variant (synonymous variant)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GUncertain significance
Select item 2701751	NM_005859.5(PURA):c.425C>A (p.Ala142Glu)	LOC129994826, PURA (A142E)	Single nucleotide variant (missense variant)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GUncertain significance
Select item 2444854	NM_005859.5(PURA):c.493G>T (p.Gly165Cys)	PURA (G165C)	Single nucleotide variant (missense variant)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GPathogenic
Select item 2441816	NM_005859.5(PURA):c.4_7dup (p.Asp3fs)	PURA (D3fs)	Duplication (frameshift variant +1 more)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GLikely pathogenic
Select item 2432894	NM_005859.5(PURA):c.657del (p.Glu220fs)	PURA (E220fs)	Deletion (frameshift variant)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GLikely pathogenic
Select item 2432890	NM_005859.5(PURA):c.190A>T (p.Lys64Ter)	PURA (K64*)	Single nucleotide variant (nonsense)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GLikely pathogenic
Select item 2128460	NM_005859.5(PURA):c.435C>T (p.Ser145=)	LOC129994826, PURA	Single nucleotide variant (synonymous variant)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GBenign
Select item 2032601	NM_005859.5(PURA):c.426G>C (p.Ala142=)	LOC129994826, PURA	Single nucleotide variant (synonymous variant)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GUncertain significance
Select item 2022803	NM_005859.5(PURA):c.380dup (p.Ser127fs)	LOC129994826, PURA (S127fs)	Duplication (frameshift variant)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GPathogenic
Select item 2008460	NM_005859.5(PURA):c.399C>T (p.Ala133=)	LOC129994826, PURA	Single nucleotide variant (synonymous variant)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GBenign
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 1803053	NM_005859.5(PURA):c.227A>T (p.Asp76Val)	PURA (D76V)	Single nucleotide variant (missense variant)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GLikely pathogenic
Select item 1738404	NM_005859.5(PURA):c.416C>T (p.Pro139Leu)	LOC129994826, PURA (P139L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1699399	NM_005859.5(PURA):c.426_427dup (p.Leu143fs)	LOC129994826, PURA (L143fs)	Microsatellite (frameshift variant)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GPathogenic
Select item 1685052	NM_005859.5(PURA):c.409G>C (p.Asp137His)	LOC129994826, PURA (D137H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1591375	NM_005859.5(PURA):c.423G>A (p.Arg141=)	LOC129994826, PURA	Single nucleotide variant (synonymous variant)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GLikely benign
Select item 1551515	NM_005859.5(PURA):c.444G>A (p.Leu148=)	LOC129994826, PURA	Single nucleotide variant (synonymous variant)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GLikely benign
Select item 1452546	NM_005859.5(PURA):c.387dup (p.Pro130fs)	LOC129994826, PURA (P130fs)	Duplication (frameshift variant)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GPathogenic
Select item 1451955	NM_005859.5(PURA):c.389del (p.Pro130fs)	LOC129994826, PURA (P130fs)	Deletion (frameshift variant)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GPathogenic
Select item 1407682	NM_005859.5(PURA):c.436G>A (p.Glu146Lys)	LOC129994826, PURA (E146K)	Single nucleotide variant (missense variant)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GUncertain significance
Select item 1328455	GRCh37/hg19 5q31.2-31.3(chr5:139486394-139505318)x1	PURA	Copy number loss	not provided	GPathogenic
Select item 1302015	NM_005859.5(PURA):c.406C>T (p.Gln136Ter)	LOC129994826, PURA (Q136*)	Single nucleotide variant (nonsense)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GPathogenic
Select item 1275808	NM_005859.5(PURA):c.843del (p.Gln282fs)	PURA (Q282fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 1184501	NM_005859.5(PURA):c.15del (p.Asp5fs)	PURA (D5fs)	Deletion (frameshift variant)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GLikely pathogenic
Select item 1050809	NM_005859.5(PURA):c.383_386dup (p.Pro130fs)	LOC129994826, PURA (P130fs)	Microsatellite (frameshift variant)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GLikely pathogenic
Select item 1006141	NM_005859.5(PURA):c.385C>T (p.Pro129Ser)	LOC129994826, PURA (P129S)	Single nucleotide variant (missense variant)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GUncertain significance
Select item 987421	NM_005859.5(PURA):c.898del (p.Gln300fs)	PURA (Q300fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 986835	NM_005859.5(PURA):c.509T>G (p.Ile170Ser)	PURA (I170S)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 975786	NM_005859.5(PURA):c.178G>T (p.Glu60Ter)	PURA (E60*)	Single nucleotide variant (nonsense)	PURA Syndrome +1 more	GPathogenic
Select item 974857	NM_005859.5(PURA):c.-12_25del (p.Met1fs)	PURA (M1fs)	Deletion (frameshift variant +1 more)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GLikely pathogenic
Select item 931313	NM_005859.5(PURA):c.116_148del (p.Gly39_Gly49del)	PURA	Deletion (inframe_deletion)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GUncertain significance
Select item 817473	NM_005859.5(PURA):c.407_435del (p.Gln136fs)	LOC129994826, PURA (Q136fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 809808	NM_005859.5(PURA):c.484A>G (p.Asn162Asp)	PURA (N162D)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 772320	NM_005859.5(PURA):c.432A>G (p.Lys144=)	LOC129994826, PURA	Single nucleotide variant (synonymous variant)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GLikely benign
Select item 772319	NM_005859.5(PURA):c.399C>G (p.Ala133=)	LOC129994826, PURA	Single nucleotide variant (synonymous variant)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GLikely benign
Select item 772318	NM_005859.5(PURA):c.387G>C (p.Pro129=)	LOC129994826, PURA	Single nucleotide variant (synonymous variant)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GLikely benign
Select item 767188	NM_005859.5(PURA):c.390G>C (p.Pro130=)	LOC129994826, PURA	Single nucleotide variant (synonymous variant)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GLikely benign
Select item 764991	NM_005859.5(PURA):c.426G>A (p.Ala142=)	LOC129994826, PURA	Single nucleotide variant (synonymous variant)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GLikely benign
Select item 745457	NM_005859.5(PURA):c.387G>A (p.Pro129=)	LOC129994826, PURA	Single nucleotide variant (synonymous variant)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GLikely benign
Select item 744100	NM_005859.5(PURA):c.390G>A (p.Pro130=)	LOC129994826, PURA	Single nucleotide variant (synonymous variant)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GLikely benign
Select item 692074	NM_005859.5(PURA):c.424dup (p.Ala142fs)	LOC129994826, PURA (A142fs)	Duplication (frameshift variant)	PURA Syndrome	GPathogenic
Select item 666300	NM_005859.5(PURA):c.430A>G (p.Lys144Glu)	LOC129994826, PURA (K144E)	Single nucleotide variant (missense variant)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome +1 more	GLikely pathogenic
Select item 661851	NM_005859.5(PURA):c.394C>G (p.Leu132Val)	LOC129994826, PURA (L132V)	Single nucleotide variant (missense variant)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GUncertain significance
Select item 623216	NM_005859.5(PURA):c.407_420dup (p.Ala142fs)	LOC129994826, PURA (A142fs)	Duplication (frameshift variant)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GPathogenic/Likely pathogenic
Select item 589918	NM_005859.5(PURA):c.421C>A (p.Arg141=)	LOC129994826, PURA	Single nucleotide variant (synonymous variant)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome +1 more	GLikely benign
Select item 579296	NM_005859.5(PURA):c.382dup (p.Gln128fs)	LOC129994826, PURA (Q128fs)	Duplication (frameshift variant)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GPathogenic
Select item 560683	NM_005859.5(PURA):c.605T>C (p.Leu202Pro)	PURA (L202P)	Single nucleotide variant (missense variant)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GLikely pathogenic
Select item 522163	NM_005859.5(PURA):c.427C>G (p.Leu143Val)	LOC129994826, PURA (L143V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 496677	NM_005859.5(PURA):c.511C>G (p.Arg171Gly)	PURA (R171G)	Single nucleotide variant (missense variant)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GLikely pathogenic
Select item 488450	NM_005859.5(PURA):c.496C>T (p.Arg166Cys)	PURA (R166C)	Single nucleotide variant (missense variant)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GLikely pathogenic
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 192345	NM_005859.5(PURA):c.379dup (p.Ser127fs)	LOC129994826, PURA (S127fs)	Duplication (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)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome +1 more	GUncertain significance

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Items: 56