C2675210[trait identifier] AND "Centre for Mendelian Genomics, Univers - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 931849	NM_006017.3(PROM1):c.2540A>G (p.His847Arg)	PROM1 (H847R +1 more)	Single nucleotide variant (missense variant +1 more)	Cone-rod dystrophy 12	GUncertain significance
Select item 802057	NM_006017.3(PROM1):c.652C>T (p.Gln218Ter)	PROM1 (Q209* +1 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 931502	NM_006017.3(PROM1):c.11T>C (p.Val4Ala)	PROM1 (V4A)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 12	GLikely benign

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