"Mendelics"[submitter] AND "ROM1"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 167600	NM_000327.4(ROM1):c.353G>C (p.Gly118Ala)	ROM1	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 195064	NM_000327.4(ROM1):c.686G>A (p.Arg229His)	ROM1, B3GAT3 (R229H)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 196252	NM_000327.4(ROM1):c.868del (p.Gln290fs)	ROM1 (Q290fs)	Deletion (frameshift variant)	Retinitis Pigmentosa, Dominant +2 more	GBenign/Likely benign

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