"GeneDx"[submitter] AND "YWHAZ"[gene] - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144949	GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3	LOC130001226, LOC130001227 +1407 more	Copy number gain	See cases	GPathogenic
Select item 2501983	NM_145690.3(YWHAZ):c.651_654del (p.Met218fs)	YWHAZ (M218fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3369713	NM_145690.3(YWHAZ):c.612_620delinsAGAGTTCATACAAAGACAGCACGCTTTGTA (p.Asp204_Ser207delinsGluGluPheIleGlnArgGlnHisAlaLeuTyr)	YWHAZ	Indel (inframe_indel)	not provided	GUncertain significance
Select item 2501982	NM_145690.3(YWHAZ):c.391G>A (p.Glu131Lys)	YWHAZ (E131K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3342334	NM_145690.3(YWHAZ):c.379C>T (p.Arg127Cys)	YWHAZ (R127C)	Single nucleotide variant (missense variant)	not provided	GPathogenic

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