"Mendelics"[submitter] AND "PRPF31-AS1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 804151	NM_015629.4(PRPF31):c.3G>A (p.Met1Ile)	PRPF31, PRPF31-AS1 (M1I)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa	GLikely pathogenic
Select item 804152	NM_015629.4(PRPF31):c.89_92del (p.Pro30fs)	PRPF31, PRPF31-AS1 (P30fs)	Deletion (frameshift variant)	Retinitis pigmentosa	GPathogenic
Select item 804154	NM_015629.4(PRPF31):c.322+1G>A	PRPF31, PRPF31-AS1	Single nucleotide variant (splice donor variant)	Retinitis pigmentosa	GPathogenic
Select item 804157	NM_015629.4(PRPF31):c.335del (p.Lys112fs)	PRPF31, PRPF31-AS1 (K112fs)	Deletion (frameshift variant)	Retinitis pigmentosa	GPathogenic
Select item 804158	NM_015629.4(PRPF31):c.573C>A (p.Cys191Ter)	PRPF31, PRPF31-AS1 (C191*)	Single nucleotide variant (nonsense)	Retinal dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 804159	NM_015629.4(PRPF31):c.856-1G>A	PRPF31, PRPF31-AS1	Single nucleotide variant (splice acceptor variant)	Retinitis pigmentosa	GPathogenic

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