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

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 931934	NM_006445.4(PRPF8):c.1208C>T (p.Ala403Val)	PRPF8 (A403V)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 13	GUncertain significance
Select item 374176	NM_006445.4(PRPF8):c.926G>A (p.Arg309His)	PRPF8 (R309H)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 930404	NM_006445.4(PRPF8):c.809A>G (p.Asn270Ser)	PRPF8 (N270S)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 13	GUncertain significance
Select item 930664	NM_006445.4(PRPF8):c.239del (p.Lys80fs)	PRPF8 (K80fs)	Deletion (frameshift variant)	Retinitis pigmentosa 13	GUncertain significance
Select item 930837	NM_006445.4(PRPF8):c.104G>T (p.Arg35Leu)	PRPF8 (R35L)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 13	GUncertain significance
Select item 523260	GRCh37/hg19 17p13.3(chr17:1361431-2573023)	MIR212, MIR22 +25 more	Copy number loss	Abnormal facial shape +2 more	GPathogenic

ClinVar