"GeneDx"[submitter] AND "EIF2AK3"[gene] - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1279220	NM_004836.7(EIF2AK3):c.3150+69G>A	EIF2AK3, LOC101928371	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235447	NM_004836.7(EIF2AK3):c.3088-147_3088-146del	EIF2AK3, LOC101928371	Microsatellite (intron variant)	not provided	GBenign
Select item 1281144	NM_004836.7(EIF2AK3):c.3087+50A>C	EIF2AK3, LOC101928371	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236954	NM_004836.7(EIF2AK3):c.2818-73T>A	EIF2AK3, LOC101928371	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3372631	NM_004836.7(EIF2AK3):c.2785C>T (p.His929Tyr)	LOC101928371, EIF2AK3 (H778Y +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 128986	NM_004836.7(EIF2AK3):c.2110G>T (p.Ala704Ser)	EIF2AK3, LOC101928371 (A704S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Wolcott-Rallison dysplasia +1 more	GBenign
Select item 1180226	NM_004836.7(EIF2AK3):c.1887-298dup	EIF2AK3	Duplication (intron variant)	not provided	GBenign
Select item 128985	NM_004836.7(EIF2AK3):c.1791A>G (p.Gln597=)	EIF2AK3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 128984	NM_004836.7(EIF2AK3):c.1763+6A>T	EIF2AK3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 2505984	NM_004836.7(EIF2AK3):c.1694_1695del (p.Lys564_Tyr565insTer)	EIF2AK3	Microsatellite (nonsense)	not provided	GPathogenic
Select item 1228157	NM_004836.7(EIF2AK3):c.1650+282C>T	EIF2AK3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271152	NM_004836.7(EIF2AK3):c.1430-23del	EIF2AK3	Deletion (intron variant)	not provided	GBenign
Select item 1259338	NM_004836.7(EIF2AK3):c.768-250T>A	EIF2AK3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241388	NM_004836.7(EIF2AK3):c.767+248G>A	EIF2AK3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276121	NM_004836.7(EIF2AK3):c.633+262del	EIF2AK3	Deletion (intron variant)	not provided	GBenign
Select item 1244627	NM_004836.7(EIF2AK3):c.633+258_633+262del	EIF2AK3	Deletion (intron variant)	not provided	GBenign
Select item 128988	NM_004836.7(EIF2AK3):c.497A>G (p.Gln166Arg)	EIF2AK3 (Q166R +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 1174990	NM_004836.7(EIF2AK3):c.439-170A>G	EIF2AK3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 128987	NM_004836.7(EIF2AK3):c.407C>G (p.Ser136Cys)	EIF2AK3 (S136C)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 1175456	NM_004836.7(EIF2AK3):c.308+137C>G	EIF2AK3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 193295	NM_004836.7(EIF2AK3):c.40CTG[7] (p.Leu21del)	EIF2AK3 (L21del)	Microsatellite (inframe_deletion)	not provided +2 more	GBenign
Select item 337424	NM_004836.7(EIF2AK3):c.-172C>T	EIF2AK3	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign

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Items: 22