"Broad Center for Mendelian Genomics, Broad Institute of MIT and Harva - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1297154	NM_201253.3(CRB1):c.222C>G (p.Cys74Trp)	CRB1 (C5W +1 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 12 +1 more	GUncertain significance
Select item 99913	NM_201253.3(CRB1):c.613_619del (p.Ile205fs)	CRB1 (I136fs +1 more)	Deletion (frameshift variant +1 more)	Retinal dystrophy +6 more	GPathogenic
Select item 813993	NM_201253.3(CRB1):c.1147T>C (p.Cys383Arg)	CRB1 (C271R +2 more)	Single nucleotide variant (missense variant +1 more)	Leber congenital amaurosis 8	GLikely pathogenic
Select item 866829	NM_201253.3(CRB1):c.1429G>A (p.Gly477Arg)	CRB1 (G477R +2 more)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy +4 more	GPathogenic/Likely pathogenic
Select item 1297153	NM_201253.3(CRB1):c.1844G>A (p.Gly615Asp)	CRB1 (G503D +2 more)	Single nucleotide variant (missense variant +1 more)	Leber congenital amaurosis 8 +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)	Leber congenital amaurosis 8 +5 more	GPathogenic/Likely pathogenic
Select item 5732	NM_201253.3(CRB1):c.2290C>T (p.Arg764Cys)	CRB1 (R764C +2 more)	Single nucleotide variant (missense variant +2 more)	CRB1-related maculopathy +9 more	GPathogenic/Likely pathogenic
Select item 99882	NM_201253.3(CRB1):c.2549_2552del (p.Gly850fs)	CRB1 (G738fs +2 more)	Deletion (frameshift variant +2 more)	Leber congenital amaurosis 8	GLikely pathogenic
Select item 99888	NM_201253.3(CRB1):c.2688T>A (p.Cys896Ter)	CRB1 (C896* +2 more)	Single nucleotide variant (nonsense +2 more)	Macular dystrophy +6 more	GPathogenic
Select item 2579251	GRCh38/hg38 1q31.3(chr1:197435257-197441674)x0	CRB1	Copy number loss	Retinitis pigmentosa 12	GPathogenic