ClinVar for MedGen (Select 342816) - ClinVar

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 5485471.	NM_013246.3(CLCF1):c.163C>T (p.Arg55Cys) GRCh37: Chr11:67134951 GRCh38: Chr11:67367480	LOC100130987, CLCF1	R45C, R55C	Cold-induced sweating syndrome 2	Uncertain significance (Mar 5, 2018)	criteria provided, single submitter
Select item 395682.	NM_013246.3(CLCF1):c.676T>C (p.Ter226Arg) GRCh37: Chr11:67132609 GRCh38: Chr11:67365138	CLCF1, LOC100130987		Cold-induced sweating syndrome 2	Pathogenic (Jun 15, 2010)	no assertion criteria provided
Select item 215033.	NM_013246.3(CLCF1):c.46T>C (p.Cys16Arg) GRCh37: Chr11:67135068 GRCh38: Chr11:67367597	CLCF1, LOC100130987	C6R, C16R	Cold-induced sweating syndrome 2	Pathogenic (Jun 15, 2010)	no assertion criteria provided
Select item 29314.	NM_013246.3(CLCF1):c.590G>T (p.Arg197Leu) GRCh37: Chr11:67132695 GRCh38: Chr11:67365224	CLCF1, LOC100130987	R197L, R187L	Cold-induced sweating syndrome 2	Pathogenic (Jun 27, 2006)	no assertion criteria provided
Select item 29305.	NM_013246.3(CLCF1):c.321C>A (p.Tyr107Ter) GRCh37: Chr11:67132964 GRCh38: Chr11:67365493	CLCF1, LOC100130987	Y107, Y97	Cold-induced sweating syndrome 2	Pathogenic (Jun 27, 2006)	no assertion criteria provided

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