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

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 16945	NM_020989.4(CRYGC):c.502C>T (p.Arg168Trp)	CRYGC, LOC100507443 (R168W)	Single nucleotide variant (missense variant)	Cataract 2, multiple types +1 more	GConflicting classifications of pathogenicity
Select item 66075	NM_020989.4(CRYGC):c.471G>A (p.Trp157Ter)	CRYGC, LOC100507443 (W157*)	Single nucleotide variant (nonsense)	Cataract 2, multiple types	GPathogenic
Select item 66074	NM_020989.4(CRYGC):c.470G>A (p.Trp157Ter)	CRYGC, LOC100507443 (W157*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 66076	NM_020989.4(CRYGC):c.385G>T (p.Gly129Cys)	CRYGC, LOC100507443 (G129C)	Single nucleotide variant (missense variant)	Cataract 2, multiple types	GPathogenic
Select item 16944	NM_020989.4(CRYGC):c.119_123dup (p.Cys42fs)	CRYGC, LOC100507443 (C42fs)	Duplication (frameshift variant)	Cataract 2, multiple types	GPathogenic
Select item 16943	NM_020989.4(CRYGC):c.13A>C (p.Thr5Pro)	CRYGC, LOC100507443 (T5P)	Single nucleotide variant (missense variant)	Nuclear pulverulent cataract	GPathogenic

ClinVar