"MVZ Medizinische Genetik Mainz"[submitter] AND "PRPF31"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3235232	NM_015629.4(PRPF31):c.1A>G (p.Met1Val)	PRPF31 (M1V)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 11	GPathogenic
Select item 3256694	NM_015629.4(PRPF31):c.549_550insGCCTCCAG (p.Leu184fs)	PRPF31 (L184fs)	Insertion (frameshift variant)	Retinitis pigmentosa 11	GLikely pathogenic
Select item 3236217	NM_015629.4(PRPF31):c.845_855+1del	PRPF31	Deletion (splice donor variant)	Retinitis pigmentosa 11	GPathogenic

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