"Center for Genomic Medicine, King Faisal Specialist Hospital and Rese - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 978995	NM_201253.3(CRB1):c.80G>T (p.Cys27Phe)	CRB1 (C27F)	Single nucleotide variant (missense variant +2 more)	Retinitis pigmentosa 12 +1 more	GPathogenic/Likely pathogenic
Select item 190990	NM_201253.3(CRB1):c.1180T>C (p.Cys394Arg)	CRB1 (C394R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 3064718	NM_201253.3(CRB1):c.1421G>A (p.Gly474Asp)	CRB1 (G362D +2 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 12	GLikely pathogenic
Select item 866829	NM_201253.3(CRB1):c.1429G>A (p.Gly477Arg)	CRB1 (G477R +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Retinitis pigmentosa +4 more	GPathogenic/Likely pathogenic
Select item 978991	NM_201253.3(CRB1):c.1463T>C (p.Phe488Ser)	CRB1 (F376S +2 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 13 +2 more	GConflicting classifications of pathogenicity
Select item 5733	NM_201253.3(CRB1):c.2234C>T (p.Thr745Met)	CRB1 (T745M +2 more)	Single nucleotide variant (missense variant +2 more)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 372352	NM_201253.3(CRB1):c.2506C>A (p.Pro836Thr)	CRB1 (P836T +2 more)	Single nucleotide variant (missense variant +2 more)	Retinal dystrophy +6 more	GConflicting classifications of pathogenicity
Select item 978993	NM_201253.3(CRB1):c.2701G>T (p.Val901Phe)	CRB1 (V789F +2 more)	Single nucleotide variant (missense variant +2 more)	Retinitis pigmentosa 12	GLikely pathogenic
Select item 5739	NM_201253.3(CRB1):c.3307G>A (p.Gly1103Arg)	CRB1 (G1103R +2 more)	Single nucleotide variant (missense variant +2 more)	Retinitis pigmentosa 12 +4 more	GPathogenic
Select item 978994	NM_201253.3(CRB1):c.3495T>G (p.Cys1165Trp)	CRB1 (C1053W +2 more)	Single nucleotide variant (missense variant +2 more)	Retinitis pigmentosa 12	GLikely pathogenic