ClinVar for MedGen (Select 413851) - ClinVar

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 18096831.	NM_001194958.2(KCNJ18):c.364C>T (p.Pro122Ser) GRCh38: Chr17:21703150	KCNJ18	P122S	Thyrotoxic periodic paralysis, susceptibility to, 2	Uncertain significance (Apr 12, 2022)	criteria provided, single submitter
Select item 4489652.	NM_001194958.2(KCNJ18):c.655C>T (p.Arg219Cys) GRCh38: Chr17:21703441	KCNJ18	R219C	Thyrotoxic periodic paralysis, susceptibility to, 2	Uncertain significance (Apr 24, 2017)	criteria provided, single submitter
Select item 2073.	NM_001194958.2(KCNJ18):c.1097A>G (p.Lys366Arg) GRCh37: Chr17:356248 GRCh38: Chr17:21703883	KCNJ18	K366R	Thyrotoxic periodic paralysis, susceptibility to, 2	risk factor (Jan 8, 2010)	no assertion criteria provided
Select item 2064.	NM_001194958.2(KCNJ18):c.614G>A (p.Arg205His) GRCh37: Chr17:355765 GRCh38: Chr17:21703400	KCNJ18	R205H	Thyrotoxic periodic paralysis, susceptibility to, 2	risk factor (Jan 8, 2010)	no assertion criteria provided
Select item 2055.	NM_001194958.2(KCNJ18):c.1061C>T (p.Thr354Met) GRCh37: Chr17:356212 GRCh38: Chr17:21703847	KCNJ18	T354M	Thyrotoxic periodic paralysis, susceptibility to, 2	risk factor (Jan 8, 2010)	no assertion criteria provided
Select item 2046.	NM_001194958.2(KCNJ18):c.429del (p.Ile144fs) GRCh38: Chr17:21703214	KCNJ18	I144fs	Thyrotoxic periodic paralysis, susceptibility to, 2	risk factor (Jan 8, 2010)	no assertion criteria provided

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