ClinVar for MedGen (Select 1794247) - ClinVar - NCBI

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Items: 7

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25856661.	NM_024911.7(WLS):c.432G>A (p.Ala144=) GRCh37: Chr1:68624878 GRCh38: Chr1:68159195	GNG12-AS1, WLS		Zaki syndrome	Benign (Apr 11, 2023)	criteria provided, single submitter
Select item 25848582.	NM_024911.7(WLS):c.702G>C (p.Trp234Cys) GRCh37: Chr1:68619301 GRCh38: Chr1:68153618	GNG12-AS1, WLS	W143C, W232C, W234C	Zaki syndrome	Uncertain significance	criteria provided, single submitter
Select item 24319263.	NM_024911.7(WLS):c.919T>C (p.Phe307Leu) GRCh37: Chr1:68615924 GRCh38: Chr1:68150241	GNG12-AS1, WLS	F216L, F305L, F307L	Zaki syndrome	Uncertain significance (Dec 16, 2022)	criteria provided, single submitter
Select item 10985704.	NM_024911.7(WLS):c.1606C>T (p.Arg536Cys) GRCh37: Chr1:68591929 GRCh38: Chr1:68126246	GNG12-AS1, WLS	R445C, R536C	WLS syndrome	Likely pathogenic (Apr 21, 2021)	criteria provided, single submitter
Select item 10985695.	NM_024911.7(WLS):c.1592T>C (p.Ile531Thr) GRCh37: Chr1:68591943 GRCh38: Chr1:68126260	GNG12-AS1, WLS	I440T, I531T	WLS syndrome	Likely pathogenic (Apr 21, 2021)	criteria provided, single submitter
Select item 10985686.	NM_024911.7(WLS):c.1433A>G (p.Tyr478Cys) GRCh37: Chr1:68603546 GRCh38: Chr1:68137863	GNG12-AS1, WLS	Y387C, Y476C, Y478C	WLS syndrome	Pathogenic (Apr 21, 2021)	criteria provided, single submitter
Select item 10985677.	NM_024911.7(WLS):c.1175A>G (p.Tyr392Cys) GRCh37: Chr1:68611655 GRCh38: Chr1:68145972	GNG12-AS1, WLS	Y301C, Y390C, Y392C	WLS syndrome	Pathogenic (Apr 21, 2021)	criteria provided, single submitter