"Centre for Mendelian Genomics, University Medical Centre Ljubljana"[s - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 523503	NM_014014.5(SNRNP200):c.5489-2A>G	SNRNP200	Single nucleotide variant (splice acceptor variant)	Rod-cone dystrophy	GUncertain significance
Select item 931912	NM_014014.5(SNRNP200):c.4943G>A (p.Arg1648Gln)	SNRNP200 (R1648Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 523502	NM_014014.5(SNRNP200):c.3133C>A (p.Pro1045Thr)	SNRNP200 (P1045T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 930353	NM_014014.5(SNRNP200):c.1786A>G (p.Ile596Val)	SNRNP200 (I596V)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 33	GUncertain significance
Select item 930975	NM_014014.5(SNRNP200):c.629A>G (p.Glu210Gly)	SNRNP200 (E210G)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 33	GUncertain significance
Select item 932139	NM_014014.5(SNRNP200):c.557A>G (p.Lys186Arg)	SNRNP200 (K186R)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 33	GUncertain significance

ClinVar