"Genome-Nilou Lab"[submitter] AND "UNC80"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1684241	NM_001371986.1(UNC80):c.3250+46C>A	UNC80	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1649582	NM_001371986.1(UNC80):c.3333C>G (p.Leu1111=)	UNC80	Single nucleotide variant (synonymous variant)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 +1 more	GBenign
Select item 1283225	NM_001371986.1(UNC80):c.3455-13A>G	UNC80	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1233025	NM_001371986.1(UNC80):c.3977-4C>A	UNC80	Single nucleotide variant (intron variant)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 +1 more	GBenign
Select item 1249009	NM_001371986.1(UNC80):c.9069G>A (p.Gln3023=)	UNC80	Single nucleotide variant (synonymous variant)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 +1 more	GBenign
Select item 1684257	NM_001371986.1(UNC80):c.9119-36A>G	UNC80	Single nucleotide variant (intron variant)	not provided +1 more	GBenign

ClinVar