"NIHR Bioresource Rare Diseases, University of Cambridge"[submitter] A - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 438075	NM_201253.3(CRB1):c.254G>A (p.Cys85Tyr)	CRB1 (C85Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 96659	NM_201253.3(CRB1):c.498_506del (p.Ile167_Gly169del)	CRB1	Deletion (inframe_deletion +1 more)	Autosomal recessive bestrophinopathy +9 more	GPathogenic/Likely pathogenic
Select item 236477	NM_201253.3(CRB1):c.1006T>C (p.Cys336Arg)	CRB1 (C336R +2 more)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GConflicting classifications of pathogenicity
Select item 438069	NM_201253.3(CRB1):c.1183G>T (p.Glu395Ter)	CRB1 (E395* +2 more)	Single nucleotide variant (nonsense +1 more)	Leber congenital amaurosis 8 +3 more	GConflicting classifications of pathogenicity
Select item 438070	NM_201253.3(CRB1):c.1673T>C (p.Ile558Thr)	CRB1 (I558T +2 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa	GLikely pathogenic
Select item 438071	NM_201253.3(CRB1):c.1712A>C (p.Glu571Ala)	CRB1 (E571A +2 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 12 +2 more	GUncertain significance
Select item 73455	NM_201253.3(CRB1):c.1913C>T (p.Ser638Leu)	CRB1 (S638L +2 more)	Single nucleotide variant (missense variant +1 more)	Leber congenital amaurosis 8 +2 more	GPathogenic/Likely pathogenic
Select item 438072	NM_201253.3(CRB1):c.2017A>G (p.Lys673Glu)	CRB1 (K673E +2 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa	GLikely pathogenic
Select item 438073	NM_201253.3(CRB1):c.2129A>T (p.Glu710Val)	CRB1 (E710V +2 more)	Single nucleotide variant (missense variant +2 more)	Pigmented paravenous retinochoroidal atrophy +4 more	GPathogenic/Likely pathogenic
Select item 438074	NM_201253.3(CRB1):c.2220dup (p.Met741fs)	CRB1 (M629fs +2 more)	Duplication (frameshift variant +2 more)	Leber congenital amaurosis	GLikely pathogenic
Select item 438076	NM_201253.3(CRB1):c.2639A>G (p.Asn880Ser)	CRB1 (N880S +2 more)	Single nucleotide variant (missense variant +2 more)	Leber congenital amaurosis 8 +1 more	GConflicting classifications of pathogenicity
Select item 99888	NM_201253.3(CRB1):c.2688T>A (p.Cys896Ter)	CRB1 (C896* +2 more)	Single nucleotide variant (nonsense +2 more)	Retinitis pigmentosa 12 +6 more	GPathogenic
Select item 438077	NM_201253.3(CRB1):c.2839G>A (p.Glu947Lys)	CRB1 (E947K +2 more)	Single nucleotide variant (missense variant +2 more)	Leber congenital amaurosis 8 +2 more	GUncertain significance
Select item 438078	NM_201253.3(CRB1):c.2842+5G>A	CRB1	Single nucleotide variant (intron variant)	Retinitis pigmentosa 12 +2 more	GPathogenic/Likely pathogenic
Select item 39614	NM_201253.3(CRB1):c.2843G>A (p.Cys948Tyr)	CRB1 (C948Y +2 more)	Single nucleotide variant (missense variant +2 more)	CRB1-related disorder +7 more	GPathogenic
Select item 438079	NM_201253.3(CRB1):c.3542dup (p.Cys1181fs)	CRB1 (C1069fs +2 more)	Duplication (frameshift variant +2 more)	Leber congenital amaurosis 8 +1 more	GPathogenic
Select item 438080	NM_201253.3(CRB1):c.3676G>T (p.Gly1226Ter)	CRB1 (G1226* +2 more)	Single nucleotide variant (nonsense +2 more)	Pigmented paravenous retinochoroidal atrophy +2 more	GPathogenic