"Genome Diagnostics Laboratory, The Hospital for Sick Children"[submit - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 337399	NM_004836.7(EIF2AK3):c.3291A>G (p.Ser1097=)	EIF2AK3, LOC101928371	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 337401	NM_004836.7(EIF2AK3):c.2532T>C (p.Ser844=)	EIF2AK3, LOC101928371	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 1702401	NM_004836.7(EIF2AK3):c.1887-9C>G	EIF2AK3	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 393382	NM_004836.7(EIF2AK3):c.1751G>A (p.Gly584Glu)	EIF2AK3 (G584E +1 more)	Single nucleotide variant (missense variant)	Connective tissue disorder +3 more	GConflicting classifications of pathogenicity
Select item 337412	NM_004836.7(EIF2AK3):c.1697A>T (p.Asp566Val)	EIF2AK3 (D566V +1 more)	Single nucleotide variant (missense variant)	Wolcott-Rallison dysplasia +5 more	GConflicting classifications of pathogenicity
Select item 1702400	NM_004836.7(EIF2AK3):c.1651-4T>C	EIF2AK3	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 727543	NM_004836.7(EIF2AK3):c.1264G>A (p.Ala422Thr)	EIF2AK3 (A271T +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 337416	NM_004836.7(EIF2AK3):c.1173T>C (p.Tyr391=)	EIF2AK3	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 337419	NM_004836.7(EIF2AK3):c.719G>A (p.Arg240His)	EIF2AK3 (R240H +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 128988	NM_004836.7(EIF2AK3):c.497A>G (p.Gln166Arg)	EIF2AK3 (Q166R +1 more)	Single nucleotide variant (missense variant)	Connective tissue disorder +3 more	GBenign
Select item 193296	NM_004836.7(EIF2AK3):c.154G>A (p.Ala52Thr)	EIF2AK3 (A52T)	Single nucleotide variant (missense variant)	not specified +5 more	GBenign/Likely benign
Select item 1061835	NM_004836.7(EIF2AK3):c.40CTG[10] (p.Leu20_Leu21dup)	EIF2AK3	Microsatellite (inframe_insertion)	Connective tissue disorder +1 more	GConflicting classifications of pathogenicity