"3billion"[submitter] AND "CRB1"[gene] - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1333701	NM_201253.3(CRB1):c.132dup (p.Cys45fs)	CRB1 (C45fs)	Duplication (frameshift variant +2 more)	Leber congenital amaurosis 8	GLikely pathogenic
Select item 1333629	NM_201253.3(CRB1):c.1235G>T (p.Cys412Phe)	CRB1 (C300F +2 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 12	GUncertain significance
Select item 1470081	NM_201253.3(CRB1):c.1348T>A (p.Cys450Ser)	CRB1 (C338S +2 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 12 +1 more	GLikely pathogenic
Select item 2572562	NM_201253.3(CRB1):c.1459T>C (p.Ser487Pro)	CRB1 (S375P +2 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 12	GLikely pathogenic
Select item 1333702	NM_201253.3(CRB1):c.1604_1607dup (p.Glu536fs)	CRB1 (E424fs +2 more)	Duplication (frameshift variant +1 more)	Retinitis pigmentosa 12	GLikely pathogenic
Select item 2444308	NM_201253.3(CRB1):c.1817G>A (p.Cys606Tyr)	CRB1 (C494Y +2 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 12	GUncertain significance
Select item 933277	NM_201253.3(CRB1):c.1841G>T (p.Gly614Val)	CRB1 (G502V +2 more)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy +3 more	GPathogenic
Select item 1333208	NM_201253.3(CRB1):c.2128+1G>A	CRB1	Single nucleotide variant (splice donor variant)	Retinitis pigmentosa 12	GLikely pathogenic
Select item 635155	NM_201253.3(CRB1):c.2230C>T (p.Arg744Ter)	CRB1 (R744* +2 more)	Single nucleotide variant (nonsense +2 more)	Leber congenital amaurosis 8 +3 more	GPathogenic/Likely pathogenic
Select item 5733	NM_201253.3(CRB1):c.2234C>T (p.Thr745Met)	CRB1 (T745M +2 more)	Single nucleotide variant (missense variant +2 more)	Retinal dystrophy +5 more	GPathogenic/Likely pathogenic
Select item 970125	NM_201253.3(CRB1):c.2423A>G (p.Tyr808Cys)	CRB1 (Y696C +2 more)	Single nucleotide variant (missense variant +2 more)	Leber congenital amaurosis 8 +2 more	GUncertain significance
Select item 1333414	NM_201253.3(CRB1):c.3070del (p.Thr1024fs)	CRB1 (T1000fs +2 more)	Deletion (frameshift variant +2 more)	Retinitis pigmentosa 12	GLikely pathogenic
Select item 801602	NM_201253.3(CRB1):c.3961T>G (p.Cys1321Gly)	CRB1 (C1321G +3 more)	Single nucleotide variant (missense variant +1 more)	Leber congenital amaurosis 1 +3 more	GLikely pathogenic