Related gene-specific medical variations for Gene (Select 5610) - ClinVar - NCBI

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Links from Gene

Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362483	NM_001135651.3(EIF2AK2):c.92C>G (p.Pro31Arg)	EIF2AK2 (P31R)	Single nucleotide variant (missense variant)	Dystonia 33	GUncertain significance
Select item 3360040	NM_001135651.3(EIF2AK2):c.61C>G (p.Gln21Glu)	EIF2AK2 (Q21E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359835	NM_001135651.3(EIF2AK2):c.836G>C (p.Gly279Ala)	EIF2AK2 (G279A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3065796	NM_001135651.3(EIF2AK2):c.1495C>T (p.Arg499Trp)	EIF2AK2 (R458W +1 more)	Single nucleotide variant (missense variant)	Dystonia 33	GUncertain significance
Select item 3065222	NM_001135651.3(EIF2AK2):c.28T>C (p.Phe10Leu)	EIF2AK2 (F10L)	Single nucleotide variant (missense variant)	Dystonia 33	GLikely benign
Select item 2689009	NM_001135651.3(EIF2AK2):c.1067+1G>A	EIF2AK2	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2689008	NM_001135651.3(EIF2AK2):c.1323T>C (p.Asn441=)	EIF2AK2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2689007	NM_001135651.3(EIF2AK2):c.1067+5C>T	EIF2AK2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2689006	NM_001135651.3(EIF2AK2):c.646A>C (p.Asn216His)	EIF2AK2 (N216H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2582388	NM_001135651.3(EIF2AK2):c.950A>G (p.His317Arg)	EIF2AK2 (H276R +1 more)	Single nucleotide variant (missense variant)	Dystonia 33 +1 more	GUncertain significance
Select item 1696435	NM_001135651.3(EIF2AK2):c.268A>G (p.Thr90Ala)	EIF2AK2 (T90A)	Single nucleotide variant (missense variant)	Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome	GUncertain significance
Select item 1174083	NM_001135651.3(EIF2AK2):c.452A>G (p.Gln151Arg)	EIF2AK2 (Q151R)	Single nucleotide variant (missense variant)	Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome	GLikely pathogenic