"Revvity Omics, Revvity"[submitter] AND "CRB2"[gene] - ClinVar - NCBI

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

Search results

Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 998907	NM_173689.7(CRB2):c.419G>A (p.Gly140Asp)	CRB2 (G140D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 779095	NM_173689.7(CRB2):c.737G>A (p.Arg246His)	CRB2 (R246H)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2440538	NM_173689.7(CRB2):c.998G>T (p.Gly333Val)	CRB2 (G333V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2440539	NM_173689.7(CRB2):c.1220T>C (p.Leu407Pro)	CRB2 (L407P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1658186	NM_173689.7(CRB2):c.2116C>T (p.Arg706Trp)	CRB2 (R706W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1322160	NM_173689.7(CRB2):c.2336del (p.Phe779fs)	CRB2 (F779fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 1569086	NM_173689.7(CRB2):c.2416G>A (p.Val806Ile)	CRB2 (V806I)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 180701	NM_173689.7(CRB2):c.3089_3104dup (p.Gly1036fs)	CRB2 (G1036fs)	Duplication (frameshift variant +1 more)	CRB2-related disorder +4 more	GPathogenic/Likely pathogenic
Select item 1324169	NM_173689.7(CRB2):c.3089_3104del (p.Arg1030fs)	CRB2 (R1030fs)	Deletion (frameshift variant +1 more)	CRB2-related disorder +1 more	GLikely pathogenic
Select item 1642786	NM_173689.7(CRB2):c.3373G>T (p.Gly1125Trp)	CRB2 (G1125W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity