ClinVar for MedGen (Select 896658) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Result Filters

Links from MedGen

Items: 15

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 10301441.	NM_001103146.3(GIGYF2):c.2146A>G (p.Thr716Ala) GRCh37: Chr2:233680385 GRCh38: Chr2:232815675	GIGYF2	T737A, T710A, T716A	Parkinson disease 11, autosomal dominant, susceptibility to	Uncertain significance (Jun 3, 2020)	criteria provided, single submitter
Select item 9318482.	NM_001103146.3(GIGYF2):c.2489A>T (p.Glu830Val) GRCh37: Chr2:233684655 GRCh38: Chr2:232819945	GIGYF2	E830V, E851V, E824V	Parkinson disease 11, autosomal dominant, susceptibility to	Uncertain significance (Mar 29, 2020)	criteria provided, single submitter
Select item 5222833.	NM_001103146.3(GIGYF2):c.1554G>A (p.Glu518=) GRCh37: Chr2:233660846 GRCh38: Chr2:232796136	GIGYF2		not provided, Parkinson disease 11, autosomal dominant, susceptibility to	Benign (Jun 9, 2021)	criteria provided, multiple submitters, no conflicts
Select item 5183404.	NM_001103146.3(GIGYF2):c.3684+15G>A GRCh37: Chr2:233712296 GRCh38: Chr2:232847586	GIGYF2		not provided, Parkinson disease 11, autosomal dominant, susceptibility to	Benign (Jun 19, 2021)	criteria provided, multiple submitters, no conflicts
Select item 5183395.	NM_001103146.3(GIGYF2):c.3651G>A (p.Pro1217=) GRCh37: Chr2:233712248 GRCh38: Chr2:232847538	GIGYF2		not provided, Parkinson disease 11, autosomal dominant, susceptibility to	Benign (Jun 9, 2021)	criteria provided, multiple submitters, no conflicts
Select item 5183386.	NM_001103146.3(GIGYF2):c.3630_3632del (p.Gln1216del) GRCh37: Chr2:233712227-233712229 GRCh38: Chr2:232847517-232847519	GIGYF2	Q1216del, Q1237del, Q1210del	not provided	Benign (Jun 9, 2021)	criteria provided, single submitter
Select item 5183377.	NM_001103146.3(GIGYF2):c.3461-9G>A GRCh37: Chr2:233712049 GRCh38: Chr2:232847339	GIGYF2		not provided, Parkinson disease 11, autosomal dominant, susceptibility to	Benign (Jun 9, 2021)	criteria provided, multiple submitters, no conflicts
Select item 5183368.	NM_001103146.3(GIGYF2):c.2940A>G (p.Gln980=) GRCh37: Chr2:233708806 GRCh38: Chr2:232844096	GIGYF2		not provided, Parkinson disease 11, autosomal dominant, susceptibility to	Benign (Mar 3, 2020)	criteria provided, multiple submitters, no conflicts
Select item 4028999.	NM_001103146.3(GIGYF2):c.3629_3630insGC (p.Gln1211fs) GRCh37: Chr2:233712226-233712227 GRCh38: Chr2:232847515-232847516	GIGYF2	Q1211fs, Q1205fs, Q1232fs	not specified, not provided, Parkinson disease 11, autosomal dominant, susceptibility to	Benign/Likely benign (Jun 9, 2021)	criteria provided, multiple submitters, no conflicts
Select item 21693410.	NM_001103146.3(GIGYF2):c.2378C>T (p.Ala793Val) GRCh37: Chr2:233684544 GRCh38: Chr2:232819834	GIGYF2	A793V, A814V, A787V	Parkinson disease 11, autosomal dominant, susceptibility to, not provided	Conflicting interpretations of pathogenicity (Sep 1, 2023)	criteria provided, conflicting interpretations
Select item 75711.	NM_001103146.3(GIGYF2):c.1262A>G (p.Lys421Arg) GRCh37: Chr2:233656136 GRCh38: Chr2:232791426	GIGYF2	K421R, K415R, K442R	Parkinson disease 11, autosomal dominant, susceptibility to	risk factor (Sep 1, 2009)	no assertion criteria provided
Select item 75612.	NM_001103146.3(GIGYF2):c.832A>G (p.Ile278Val) GRCh37: Chr2:233655527 GRCh38: Chr2:232790817	GIGYF2	I278V, I272V, I300V	Parkinson disease 11, autosomal dominant, susceptibility to	risk factor (Apr 1, 2008)	no assertion criteria provided
Select item 75513.	NM_001103146.3(GIGYF2):c.1818C>G (p.Asp606Glu) GRCh37: Chr2:233674441 GRCh38: Chr2:232809731	GIGYF2	D606E, D627E, D600E	Parkinson disease 11, autosomal dominant, susceptibility to	risk factor (Apr 1, 2008)	no assertion criteria provided
Select item 75414.	NM_001103146.3(GIGYF2):c.1370A>C (p.Asn457Thr) GRCh37: Chr2:233659545 GRCh38: Chr2:232794835	GIGYF2	N457T, N451T, N478T	Parkinson disease 11, autosomal dominant, susceptibility to	risk factor (Aug 1, 2009)	no assertion criteria provided
Select item 75315.	NM_001103146.3(GIGYF2):c.167A>G (p.Asn56Ser) GRCh37: Chr2:233612450 GRCh38: Chr2:232747740	GIGYF2	N56S	not specified	Uncertain significance (Oct 17, 2023)	criteria provided, single submitter