ClinVar for MedGen (Select 1794216) - ClinVar - NCBI

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

Result Filters

Links from MedGen

Items: 8

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25824471.	NM_021956.5(GRIK2):c.355C>T (p.Gln119Ter) GRCh37: Chr6:102074326 GRCh38: Chr6:101626451	GRIK2	Q119*	Neurodevelopmental disorder with impaired language and ataxia and with or without seizures	Likely pathogenic (Aug 18, 2023)	criteria provided, single submitter
Select item 25765722.	NM_021956.5(GRIK2):c.1930A>T (p.Thr644Ser) GRCh37: Chr6:102376352 GRCh38: Chr6:101928477	GRIK2	T644S	Neurodevelopmental disorder with impaired language and ataxia and with or without seizures	Uncertain significance (Jul 12, 2023)	criteria provided, single submitter
Select item 24417743.	NM_021956.5(GRIK2):c.1095+2T>A GRCh37: Chr6:102247668 GRCh38: Chr6:101799793	GRIK2		Intellectual disability, autosomal recessive 6, Neurodevelopmental disorder with impaired language and ataxia and with or without seizures	Uncertain significance (Oct 10, 2022)	criteria provided, single submitter
Select item 13356394.	NM_021956.5(GRIK2):c.205A>G (p.Thr69Ala) GRCh37: Chr6:102069913 GRCh38: Chr6:101622038	GRIK2	T69A	Neurodevelopmental disorder with impaired language and ataxia and with or without seizures, not provided	Uncertain significance (Dec 7, 2021)	criteria provided, multiple submitters, no conflicts
Select item 11804515.	NM_021956.5(GRIK2):c.1979C>G (p.Thr660Arg) GRCh37: Chr6:102376401 GRCh38: Chr6:101928526	GRIK2	T660R	Neurodevelopmental disorder with impaired language and ataxia and with or without seizures, Severe global developmental delay, Hyperintensity of cerebral white matter on MRI, Intellectual disability	Pathogenic (Oct 28, 2021)	no assertion criteria provided
Select item 9858416.	NM_021956.5(GRIK2):c.1969G>A (p.Ala657Thr) GRCh37: Chr6:102376391 GRCh38: Chr6:101928516	GRIK2	A657T	Neurodevelopmental disorder with impaired language and ataxia and with or without seizures, Inborn genetic diseases, not provided	Pathogenic (Feb 23, 2023)	criteria provided, multiple submitters, no conflicts
Select item 8703827.	NM_021956.5(GRIK2):c.1979C>A (p.Thr660Lys) GRCh37: Chr6:102376401 GRCh38: Chr6:101928526	GRIK2	T660K	GRIK2-related neurodevelopmental disorder	Pathogenic (Oct 29, 2018)	criteria provided, single submitter
Select item 4453498.	NM_021956.5(GRIK2):c.2296G>A (p.Val766Ile) GRCh37: Chr6:102483426 GRCh38: Chr6:102035551	GRIK2	V766I	not provided, Intellectual disability, autosomal recessive 6, Neurodevelopmental disorder with impaired language and ataxia and with or without seizures	Benign/Likely benign (Feb 25, 2022)	criteria provided, multiple submitters, no conflicts