"Genome-Nilou Lab"[submitter] AND "CRB2"[gene] - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1230990	NM_173689.7(CRB2):c.-21CAGAGCG[1]	CRB2	Microsatellite (5 prime UTR variant)	not provided +1 more	GBenign
Select item 1167060	NM_173689.7(CRB2):c.269C>A (p.Thr90Asn)	CRB2 (T90N)	Single nucleotide variant (missense variant)	Ventriculomegaly-cystic kidney disease +1 more	GBenign
Select item 1166113	NM_173689.7(CRB2):c.434T>C (p.Met145Thr)	CRB2 (M145T)	Single nucleotide variant (missense variant)	Ventriculomegaly-cystic kidney disease +1 more	GBenign
Select item 1166114	NM_173689.7(CRB2):c.476G>C (p.Gly159Ala)	CRB2 (G159A)	Single nucleotide variant (missense variant)	Ventriculomegaly-cystic kidney disease +1 more	GBenign
Select item 1255407	NM_173689.7(CRB2):c.754+34G>C	CRB2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1166116	NM_173689.7(CRB2):c.993C>T (p.Asn331=)	CRB2	Single nucleotide variant (synonymous variant)	Ventriculomegaly-cystic kidney disease +1 more	GBenign
Select item 1167628	NM_173689.7(CRB2):c.1587G>A (p.Ala529=)	CRB2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 772939	NM_173689.7(CRB2):c.2043C>T (p.Ser681=)	CRB2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 1167629	NM_173689.7(CRB2):c.2076C>T (p.Ser692=)	CRB2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 1167061	NM_173689.7(CRB2):c.2126T>C (p.Val709Ala)	CRB2 (V709A)	Single nucleotide variant (missense variant +1 more)	Ventriculomegaly-cystic kidney disease +1 more	GBenign
Select item 1166117	NM_173689.7(CRB2):c.2523G>A (p.Thr841=)	CRB2	Single nucleotide variant (synonymous variant +1 more)	Ventriculomegaly-cystic kidney disease +1 more	GBenign
Select item 1167062	NM_173689.7(CRB2):c.2905A>G (p.Thr969Ala)	CRB2 (T969A)	Single nucleotide variant (missense variant +1 more)	Ventriculomegaly-cystic kidney disease +1 more	GBenign
Select item 1098728	NM_173689.7(CRB2):c.3021T>C (p.Ala1007=)	CRB2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 1098729	NM_173689.7(CRB2):c.3126G>C (p.Ala1042=)	CRB2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 1167630	NM_173689.7(CRB2):c.3329C>T (p.Thr1110Met)	CRB2 (T1110M)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 1255408	NM_173689.7(CRB2):c.3389+48A>G	CRB2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign