C0854723[trait identifier] AND "Department of Genetics, Fundacion Jime - ClinVar - NCBI

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Items: 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3352	NM_004698.4(PRPF3):c.1481C>T (p.Thr494Met)	PRPF3 (T494M +1 more)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 988658	NM_024649.5(BBS1):c.1205T>C (p.Leu402Pro)	BBS1, ZDHHC24 (L402P)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 98784	NM_001034853.2(RPGR):c.379A>G (p.Arg127Gly)	RPGR (R127G +2 more)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy +2 more	GConflicting classifications of pathogenicity

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