ClinVar for MedGen (Select 98152) - ClinVar

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 8030071.	NM_004995.4(MMP14):c.542T>C (p.Phe181Ser) GRCh37: Chr14:23311780 GRCh38: Chr14:22842571	MMP14	F181S	Winchester syndrome	Uncertain significance (May 28, 2019)	criteria provided, single submitter
Select item 8030062.	NM_004995.4(MMP14):c.440C>T (p.Ala147Val) GRCh37: Chr14:23311678 GRCh38: Chr14:22842469	MMP14	A147V	Winchester syndrome	Uncertain significance (May 28, 2019)	criteria provided, single submitter
Select item 2254133.	NM_004995.4(MMP14):c.850+2C>T GRCh37: Chr14:23312629 GRCh38: Chr14:22843420	MMP14		Winchester syndrome	Uncertain significance (Mar 18, 2016)	criteria provided, single submitter
Select item 654634.	NM_004995.4(MMP14):c.50C>G (p.Thr17Arg) GRCh37: Chr14:23306076 GRCh38: Chr14:22836867	MMP14	T17R	Winchester syndrome	Pathogenic (Sep 7, 2012)	no assertion criteria provided

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