"Ambry Genetics"[submitter] AND "LOC101928371"[gene] - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1395881	NM_004836.7(EIF2AK3):c.3277C>T (p.Arg1093Cys)	EIF2AK3, LOC101928371 (R942C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3087869	NM_004836.7(EIF2AK3):c.2948G>C (p.Gly983Ala)	EIF2AK3, LOC101928371 (G832A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2466565	NM_004836.7(EIF2AK3):c.2746C>T (p.His916Tyr)	EIF2AK3, LOC101928371 (H765Y +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2294349	NM_004836.7(EIF2AK3):c.2710T>G (p.Cys904Gly)	EIF2AK3, LOC101928371 (C753G +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2275533	NM_004836.7(EIF2AK3):c.2575A>G (p.Arg859Gly)	EIF2AK3, LOC101928371 (R859G +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2231519	NM_004836.7(EIF2AK3):c.2534G>C (p.Ser845Thr)	EIF2AK3, LOC101928371 (S694T +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2490666	NM_004836.7(EIF2AK3):c.2480T>G (p.Leu827Trp)	EIF2AK3, LOC101928371 (L827W +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3087868	NM_004836.7(EIF2AK3):c.2477G>C (p.Arg826Pro)	EIF2AK3, LOC101928371 (R675P +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2986037	NM_004836.7(EIF2AK3):c.2416A>G (p.Ile806Val)	EIF2AK3, LOC101928371 (I655V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GUncertain significance
Select item 2228368	NM_004836.7(EIF2AK3):c.2328G>A (p.Met776Ile)	EIF2AK3, LOC101928371 (M625I +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 998661	NM_004836.7(EIF2AK3):c.2315A>T (p.Glu772Val)	EIF2AK3, LOC101928371 (E621V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2489052	NM_004836.7(EIF2AK3):c.2256T>A (p.Ser752Arg)	EIF2AK3, LOC101928371 (S752R +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 337404	NM_004836.7(EIF2AK3):c.2237T>C (p.Met746Thr)	EIF2AK3, LOC101928371 (M746T +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Wolcott-Rallison dysplasia +2 more	GConflicting classifications of pathogenicity
Select item 1463386	NM_004836.7(EIF2AK3):c.2159G>A (p.Arg720Lys)	EIF2AK3, LOC101928371 (R569K +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +2 more	GUncertain significance
Select item 1477843	NM_004836.7(EIF2AK3):c.2120A>G (p.Glu707Gly)	EIF2AK3, LOC101928371 (E707G +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GUncertain significance
Select item 2487080	NM_004836.7(EIF2AK3):c.2111C>T (p.Ala704Val)	EIF2AK3, LOC101928371 (A553V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 337409	NM_004836.7(EIF2AK3):c.2064C>A (p.Ser688Arg)	EIF2AK3, LOC101928371 (S688R +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Wolcott-Rallison dysplasia +3 more	GUncertain significance
Select item 3087867	NM_004836.7(EIF2AK3):c.2050C>T (p.Leu684Phe)	EIF2AK3, LOC101928371 (L684F +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance