ClinVar for MedGen (Select 124419) - ClinVar

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 5782581.	NM_031471.6(FERMT3):c.332G>A (p.Arg111His) GRCh37: Chr11:63978254 GRCh38: Chr11:64210782	FERMT3	R111H	Leukocyte adhesion deficiency, Leukocyte adhesion deficiency 3	Uncertain significance (Aug 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 3401362.	NM_000211.5(ITGB2):c.56_59dup GRCh37: Chr21:46306223-46306224 GRCh38: Chr21:44886308-44886309	ITGB2		Leukocyte adhesion deficiency	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 3401283.	NM_000211.5(ITGB2):c.*219AGG[1] GRCh37: Chr21:46306059-46306061 GRCh38: Chr21:44886144-44886146	ITGB2		Leukocyte adhesion deficiency	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 3401274.	NM_000211.5(ITGB2):c.*349del GRCh37: Chr21:46305934 GRCh38: Chr21:44886019	ITGB2		Leukocyte adhesion deficiency	Likely benign (Jun 14, 2016)	criteria provided, single submitter

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