Related gene-specific medical variations for Gene (Select 7430) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3091376	NM_001111077.2(EZR):c.460C>T (p.Pro154Ser)	EZR, LOC126859852 (P154S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3053752	NM_001111077.2(EZR):c.441C>G (p.Leu147=)	EZR, LOC126859852	Single nucleotide variant (synonymous variant)	EZR-related disorder	GLikely benign
Select item 2486160	NM_001111077.2(EZR):c.497A>G (p.Asp166Gly)	EZR, LOC126859852 (D166G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254017	NM_001111077.2(EZR):c.424C>T (p.His142Tyr)	EZR, LOC126859852 (H142Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 435117	NM_001111077.2(EZR):c.538C>T (p.Arg180Cys)	EZR, LOC126859852 (R180C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 372123	NM_001111077.2(EZR):c.385G>A (p.Ala129Thr)	EZR, LOC126859852 (A129T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

ClinVar