"Eye Genetics Research Group, Children's Medical Research Institute"[s - ClinVar

Format

Sort by

Choose Destination

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 217348	NM_000496.2(CRYBB2):c.[343C>A;355G>A]	CRYBB2 (G119R +1 more)	Single nucleotide variant (missense variant)	Developmental cataract	GLikely pathogenic
Select item 217330	NM_000496.3(CRYBB2):c.556T>C (p.Ser186Pro)	CRYBB2 (S186P)	Single nucleotide variant (missense variant)	Developmental cataract	GLikely pathogenic
Select item 217350	NM_000496.3(CRYBB2):c.583T>G (p.Trp195Gly)	CRYBB2 (W195G)	Single nucleotide variant (missense variant)	Developmental cataract	GLikely pathogenic

Format

Sort by

Choose Destination

ClinVar