"Fulgent Genetics, Fulgent Genetics"[submitter] AND "LOC101928371"[gen - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1376027	NM_004836.7(EIF2AK3):c.3287G>A (p.Ser1096Asn)	EIF2AK3, LOC101928371 (S1096N +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1028303	NM_004836.7(EIF2AK3):c.3095C>G (p.Thr1032Ser)	EIF2AK3, LOC101928371 (T1032S +1 more)	Single nucleotide variant (missense variant)	Wolcott-Rallison dysplasia	GUncertain significance
Select item 1401561	NM_004836.7(EIF2AK3):c.3051dup (p.Leu1018fs)	EIF2AK3, LOC101928371 (L1018fs +1 more)	Duplication (frameshift variant)	Wolcott-Rallison dysplasia +1 more	GPathogenic/Likely pathogenic
Select item 1432281	NM_004836.7(EIF2AK3):c.2987T>G (p.Ile996Ser)	EIF2AK3, LOC101928371 (I996S +1 more)	Single nucleotide variant (missense variant)	Wolcott-Rallison dysplasia +1 more	GUncertain significance
Select item 435050	NM_004836.7(EIF2AK3):c.2923A>G (p.Met975Val)	EIF2AK3, LOC101928371 (M975V +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1400140	NM_004836.7(EIF2AK3):c.2710T>C (p.Cys904Arg)	EIF2AK3, LOC101928371 (C904R +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Wolcott-Rallison dysplasia +1 more	GUncertain significance
Select item 1438494	NM_004836.7(EIF2AK3):c.2539TCT[2] (p.Ser849del)	EIF2AK3, LOC101928371 (S849del +1 more)	Microsatellite (non-coding transcript variant +1 more)	Wolcott-Rallison dysplasia +1 more	GUncertain significance
Select item 337402	NM_004836.7(EIF2AK3):c.2507A>T (p.Lys836Ile)	EIF2AK3, LOC101928371 (K836I +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GUncertain significance
Select item 1336544	NM_004836.7(EIF2AK3):c.2483A>G (p.His828Arg)	EIF2AK3, LOC101928371 (H677R +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +1 more	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 731163	NM_004836.7(EIF2AK3):c.2286G>T (p.Gln762His)	EIF2AK3, LOC101928371 (Q611H +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Wolcott-Rallison dysplasia +2 more	GLikely benign
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 1511720	NM_004836.7(EIF2AK3):c.2162C>A (p.Ser721Tyr)	EIF2AK3, LOC101928371 (S570Y +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GUncertain significance
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 502654	NM_004836.7(EIF2AK3):c.2104C>G (p.Pro702Ala)	LOC101928371, EIF2AK3 (P702A +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Wolcott-Rallison dysplasia +1 more	GUncertain significance
Select item 337406	NM_004836.7(EIF2AK3):c.2093G>A (p.Arg698His)	EIF2AK3, LOC101928371 (R698H +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Wolcott-Rallison dysplasia	GUncertain significance
Select item 1426106	NM_004836.7(EIF2AK3):c.2092C>T (p.Arg698Cys)	EIF2AK3, LOC101928371 (R547C +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	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