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

	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 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

ClinVar