"Genome-Nilou Lab"[submitter] AND "LOC100507443"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 260059	NM_006891.4(CRYGD):c.*12T>C	CRYGD, LOC100507443	Single nucleotide variant (3 prime UTR variant)	Cataract 4 multiple types +2 more	GBenign
Select item 574060	NM_006891.4(CRYGD):c.418C>T (p.Arg140Ter)	LOC100507443, CRYGD (R140*)	Single nucleotide variant (nonsense)	Aculeiform cataract +2 more	GPathogenic
Select item 260061	NM_006891.4(CRYGD):c.285A>G (p.Arg95=)	CRYGD, LOC100507443	Single nucleotide variant (synonymous variant)	Cataract 4 multiple types +3 more	GBenign
Select item 260062	NM_006891.4(CRYGD):c.51T>C (p.Tyr17=)	CRYGD, LOC100507443	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 677166	NM_005210.4(CRYGB):c.331A>C (p.Ile111Leu)	LOC100507443, CRYGB (I111L)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 677165	NM_005210.4(CRYGB):c.192T>C (p.Pro64=)	CRYGB, LOC100507443	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign

ClinVar