Table 3.

Variants found during the reanalysis of 68 cases of arRD. Three of the 4 variants were classified as pathogenic and confirmed as causal variants, 1 of the variants was however classified as VUS waiting for experimental confirmation.

Sample	Gene	Transcript	Nucleotide	Protein	Type	Inheritance	Zygosity	Phenotype	Region	ACMG	ACMG Criteria	GnomAD AF
18-0126	GUCY2D	NM_000180.3	c.389del	p.Pro130LeufsTer36	Del	AR	HET	Leber´s congenital Amaurosis	Exonic	Pathogenic	PVS1, PP5, PM2, PM3	0.0000174
16-0951	CEP290	NM_025114.4	c.1666del	p.Ile556PhefsTer17	Del	AR	HET	Leber´s congenital Amaurosis	Exonic	Pathogenic	PVS1,PS3, PP5, PP3	-
21-0476	AHI1	NM_017651.4	c.910dup	p.Thr304AsnfsTer6	Dup	AR	HET	Joubert Syndorme	Exonic	Likely Pathogenic	PVS1, PM2, PM3, PP5, PP3	-
07-0707	TULP1	NM_003322.6	c.371_394del	p.Asp124Glu131del	Del	AR/AD	HET	Retinitis Pigmentosa	Exonic	VUS	PM4, PP3, PP5, BS1, BS2	0.00198