ClinVar for MedGen (Select 1648415) - ClinVar - NCBI

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Items: 10

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24405751.	NM_020989.4(CRYGC):c.149A>G (p.Asn50Ser) GRCh37: Chr2:208994268 GRCh38: Chr2:208129544	CRYGC, LOC100507443	N50S	Cataract 2, multiple types	Uncertain significance (Feb 19, 2019)	criteria provided, single submitter
Select item 17096522.	NM_020989.4(CRYGC):c.403G>A (p.Glu135Lys) GRCh37: Chr2:208993049 GRCh38: Chr2:208128325	CRYGC, LOC100507443	E135K	Cataract 2, multiple types	Uncertain significance (Jul 7, 2022)	criteria provided, single submitter
Select item 13413673.	NM_020989.4(CRYGC):c.394del (p.Val132fs) GRCh37: Chr2:208993058 GRCh38: Chr2:208128334	CRYGC, LOC100507443	V132fs	Cataract 2, multiple types	Pathogenic (Feb 1, 2022)	criteria provided, single submitter
Select item 10339684.	NM_020989.4(CRYGC):c.423del (p.Arg142fs) GRCh37: Chr2:208993029 GRCh38: Chr2:208128305	CRYGC, LOC100507443	R142fs	Cataract 2, multiple types	Pathogenic (Feb 9, 2018)	criteria provided, single submitter
Select item 684755.	NM_020989.4(CRYGC):c.497C>T (p.Ser166Phe) GRCh37: Chr2:208992955 GRCh38: Chr2:208128231	CRYGC, LOC100507443	S166F	Developmental cataract, Cataract 2, multiple types	Pathogenic (Jan 9, 2015)	no assertion criteria provided
Select item 660766.	NM_020989.4(CRYGC):c.385G>T (p.Gly129Cys) GRCh37: Chr2:208993067 GRCh38: Chr2:208128343	CRYGC, LOC100507443	G129C	Cataract 2, multiple types	Pathogenic (Feb 1, 2012)	no assertion criteria provided
Select item 660757.	NM_020989.4(CRYGC):c.471G>A (p.Trp157Ter) GRCh37: Chr2:208992981 GRCh38: Chr2:208128257	CRYGC, LOC100507443	W157*	Cataract 2, multiple types	Pathogenic (Jan 1, 2012)	no assertion criteria provided
Select item 660748.	NM_020989.4(CRYGC):c.470G>A (p.Trp157Ter) GRCh37: Chr2:208992982 GRCh38: Chr2:208128258	CRYGC, LOC100507443	W157*	not provided	Pathogenic (Nov 1, 2018)	criteria provided, single submitter
Select item 169459.	NM_020989.4(CRYGC):c.502C>T (p.Arg168Trp) GRCh37: Chr2:208992950 GRCh38: Chr2:208128226	CRYGC, LOC100507443	R168W	Cataract 2, multiple types, Nuclear pulverulent cataract	Conflicting interpretations of pathogenicity (Aug 31, 2021)	criteria provided, conflicting interpretations
Select item 1694410.	NM_020989.4(CRYGC):c.119_123dup (p.Cys42fs) GRCh37: Chr2:208994293-208994294 GRCh38: Chr2:208129569-208129570	CRYGC, LOC100507443	C42fs	Cataract 2, multiple types	Pathogenic (May 1, 2000)	no assertion criteria provided