"Invitae"[submitter] AND "LOC129994826"[gene] - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 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 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 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 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 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 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
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 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 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 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 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 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 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 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 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 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 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 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

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Items: 25