ClinVar for MedGen (Select 1799326) - ClinVar

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25028271.	NM_018010.4(IFT57):c.463G>T (p.Ala155Ser) GRCh37: Chr3:107937413 GRCh38: Chr3:108218566	IFT57	A155S	Orofaciodigital syndrome 18	Uncertain significance	no assertion criteria provided
Select item 12852542.	NM_018010.4(IFT57):c.375+17C>G GRCh37: Chr3:107938240 GRCh38: Chr3:108219393	IFT57		Orofaciodigital syndrome 18, not provided	Benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 5921423.	NM_018010.4(IFT57):c.585+3A>G GRCh37: Chr3:107932775 GRCh38: Chr3:108213928	IFT57		Orofaciodigital syndrome 18	Likely pathogenic	criteria provided, single submitter
Select item 5486014.	NM_018010.4(IFT57):c.1168A>G (p.Met390Val) GRCh37: Chr3:107881446 GRCh38: Chr3:108162599	IFT57	M390V	Orofaciodigital syndrome 18	Uncertain significance (Mar 5, 2018)	criteria provided, single submitter
Select item 5062885.	NM_018010.4(IFT57):c.777G>A (p.Lys259=) GRCh37: Chr3:107910368 GRCh38: Chr3:108191521	IFT57		Orofaciodigital syndrome 18	Pathogenic (Aug 9, 2019)	no assertion criteria provided

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