"OMIM"[submitter] AND "CRYBA4"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 427748	NM_001887.4(CRYBB1):c.757T>C (p.Ter253Arg)	CRYBA4, CRYBB1	Single nucleotide variant (stop lost)	Cataract 17 multiple types	GUncertain significance
Select item 8687	NM_001887.4(CRYBB1):c.658G>T (p.Gly220Ter)	CRYBA4, CRYBB1 (G220*)	Single nucleotide variant (nonsense)	Cataract 17 multiple types	GPathogenic
Select item 427749	NM_001887.4(CRYBB1):c.387C>A (p.Ser129Arg)	CRYBA4, CRYBB1 (S129R)	Single nucleotide variant (missense variant)	Cataract 17 multiple types	GPathogenic
Select item 419532	NM_001887.4(CRYBB1):c.171del (p.Asn58fs)	CRYBA4, CRYBB1 (N58fs)	Deletion (frameshift variant)	Cataract 17 +2 more	GPathogenic/Likely pathogenic
Select item 427575	NM_001886.3(CRYBA4):c.190G>T (p.Gly64Trp)	CRYBA4 (G64W)	Single nucleotide variant (missense variant)	Cataract 23	GPathogenic
Select item 16947	NM_001886.3(CRYBA4):c.206T>C (p.Leu69Pro)	CRYBA4 (L69P)	Single nucleotide variant (missense variant)	Cataract 23	GPathogenic
Select item 16946	NM_001886.3(CRYBA4):c.281T>C (p.Phe94Ser)	CRYBA4 (F94S)	Single nucleotide variant (missense variant)	Cataract 23	GPathogenic

ClinVar