C4310737[trait identifier] AND "Genome-Nilou Lab"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1285313	NM_021927.3(GUF1):c.173T>C (p.Leu58Pro)	GUF1 (L58P)	Single nucleotide variant (5 prime UTR variant +2 more)	Developmental and epileptic encephalopathy, 40 +1 more	GBenign
Select item 1285314	NM_021927.3(GUF1):c.585+27C>T	GUF1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 40 +1 more	GBenign
Select item 1285315	NM_021927.3(GUF1):c.586-28_586-27insA	GUF1	Insertion (intron variant)	Developmental and epileptic encephalopathy, 40	GBenign
Select item 1285316	NM_021927.3(GUF1):c.586-27T>A	GUF1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 40 +1 more	GBenign
Select item 1285317	NM_021927.3(GUF1):c.1715+8C>G	GUF1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 40 +1 more	GBenign
Select item 1285318	NM_021927.3(GUF1):c.1872+23T>G	GUF1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 40 +1 more	GBenign

ClinVar