C4748658[trait identifier] AND "Genome-Nilou Lab"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1327980	NM_020843.4(SCAPER):c.3705+3A>G	SCAPER	Single nucleotide variant (intron variant)	Intellectual developmental disorder and retinitis pigmentosa; IDDRP +1 more	GBenign
Select item 1327981	NM_020843.4(SCAPER):c.3265C>A (p.Pro1089Thr)	LOC126862183, SCAPER (P1089T +4 more)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder and retinitis pigmentosa; IDDRP +1 more	GBenign
Select item 1327982	NM_020843.4(SCAPER):c.3078+39G>T	SCAPER	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1327983	NM_020843.4(SCAPER):c.2645+36T>C	SCAPER	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1327984	NM_020843.4(SCAPER):c.772+1881G>T	SCAPER	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1327985	NM_020843.4(SCAPER):c.612-4A>G	SCAPER	Single nucleotide variant (intron variant)	Intellectual developmental disorder and retinitis pigmentosa; IDDRP +1 more	GBenign
Select item 1327986	NM_020843.4(SCAPER):c.1A>G (p.Met1Val)	SCAPER (M1V)	Single nucleotide variant (missense variant +3 more)	Intellectual developmental disorder and retinitis pigmentosa; IDDRP +1 more	GBenign
Select item 1327987	NM_020843.4(SCAPER):c.-42T>A	SCAPER	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign

ClinVar