C0432217[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar

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Items: 62

	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)	not provided +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)	not provided +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)	not provided +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)	not provided +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)	not provided +1 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)	not provided +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)	Wolcott-Rallison dysplasia +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)	Wolcott-Rallison dysplasia +2 more	GUncertain significance
Select item 502654	NM_004836.7(EIF2AK3):c.2104C>G (p.Pro702Ala)	EIF2AK3, LOC101928371 (P702A +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +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)	not provided +3 more	GUncertain significance
Select item 1179141	NM_004836.7(EIF2AK3):c.1936_1958del (p.Leu646fs)	EIF2AK3 (L495fs +1 more)	Deletion (frameshift variant)	Wolcott-Rallison dysplasia	GPathogenic
Select item 1443323	NM_004836.7(EIF2AK3):c.1891T>G (p.Leu631Val)	EIF2AK3 (L480V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1035692	NM_004836.7(EIF2AK3):c.1883A>G (p.Asn628Ser)	EIF2AK3 (N628S +1 more)	Single nucleotide variant (missense variant)	Wolcott-Rallison dysplasia +1 more	GUncertain significance
Select item 1368071	NM_004836.7(EIF2AK3):c.1873C>G (p.Arg625Gly)	EIF2AK3 (R625G +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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)	Connective tissue disorder +4 more	GConflicting classifications of pathogenicity
Select item 1392156	NM_004836.7(EIF2AK3):c.1622G>A (p.Arg541His)	EIF2AK3 (R541H +1 more)	Single nucleotide variant (missense variant)	Wolcott-Rallison dysplasia +1 more	GUncertain significance
Select item 337413	NM_004836.7(EIF2AK3):c.1601T>C (p.Ile534Thr)	EIF2AK3 (I534T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1432662	NM_004836.7(EIF2AK3):c.1576G>A (p.Val526Ile)	EIF2AK3 (V375I +1 more)	Single nucleotide variant (missense variant)	Wolcott-Rallison dysplasia +1 more	GUncertain significance
Select item 717265	NM_004836.7(EIF2AK3):c.1539G>A (p.Lys513=)	EIF2AK3	Single nucleotide variant (synonymous variant)	Wolcott-Rallison dysplasia +1 more	GBenign/Likely benign
Select item 1496613	NM_004836.7(EIF2AK3):c.1481C>T (p.Thr494Ile)	EIF2AK3 (T494I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1651279	NM_004836.7(EIF2AK3):c.1446A>G (p.Leu482=)	EIF2AK3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1000702	NM_004836.7(EIF2AK3):c.1370A>G (p.Asp457Gly)	EIF2AK3 (D306G +1 more)	Single nucleotide variant (missense variant)	Wolcott-Rallison dysplasia +1 more	GUncertain significance
Select item 897492	NM_004836.7(EIF2AK3):c.1310C>A (p.Ser437Tyr)	EIF2AK3 (S286Y +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1017466	NM_004836.7(EIF2AK3):c.1265C>T (p.Ala422Val)	EIF2AK3 (A271V +1 more)	Single nucleotide variant (missense variant)	Wolcott-Rallison dysplasia +1 more	GUncertain significance
Select item 1415353	NM_004836.7(EIF2AK3):c.1228A>G (p.Ser410Gly)	EIF2AK3 (S259G +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1345915	NM_004836.7(EIF2AK3):c.1121T>C (p.Ile374Thr)	EIF2AK3 (I374T +1 more)	Single nucleotide variant (missense variant)	Wolcott-Rallison dysplasia +1 more	GUncertain significance
Select item 1497271	NM_004836.7(EIF2AK3):c.1091ATG[2] (p.Asp366del)	EIF2AK3 (D366del +1 more)	Microsatellite (inframe_deletion)	Wolcott-Rallison dysplasia +1 more	GUncertain significance
Select item 1513107	NM_004836.7(EIF2AK3):c.959T>C (p.Met320Thr)	EIF2AK3 (M169T +1 more)	Single nucleotide variant (missense variant)	Wolcott-Rallison dysplasia +1 more	GUncertain significance
Select item 435049	NM_004836.7(EIF2AK3):c.928A>T (p.Ile310Leu)	EIF2AK3 (I310L +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 1364029	NM_004836.7(EIF2AK3):c.913A>G (p.Ile305Val)	EIF2AK3 (I305V +1 more)	Single nucleotide variant (missense variant)	Wolcott-Rallison dysplasia +1 more	GUncertain significance
Select item 741968	NM_004836.7(EIF2AK3):c.906A>C (p.Glu302Asp)	EIF2AK3 (E302D +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1004857	NM_004836.7(EIF2AK3):c.857A>G (p.Asn286Ser)	EIF2AK3 (N135S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1044324	NM_004836.7(EIF2AK3):c.845C>T (p.Thr282Ile)	EIF2AK3 (T131I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
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 1606377	NM_004836.7(EIF2AK3):c.633+15T>C	EIF2AK3	Single nucleotide variant (intron variant)	Wolcott-Rallison dysplasia +1 more	GLikely benign
Select item 1554618	NM_004836.7(EIF2AK3):c.615C>A (p.Leu205=)	EIF2AK3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1100911	NM_004836.7(EIF2AK3):c.598C>T (p.Leu200=)	EIF2AK3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 286375	NM_004836.7(EIF2AK3):c.556T>C (p.Tyr186His)	EIF2AK3 (Y186H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1518515	NM_004836.7(EIF2AK3):c.530C>T (p.Thr177Ile)	EIF2AK3 (T177I +1 more)	Single nucleotide variant (missense variant)	Wolcott-Rallison dysplasia +2 more	GUncertain significance
Select item 1400543	NM_004836.7(EIF2AK3):c.511A>G (p.Met171Val)	EIF2AK3 (M171V +1 more)	Single nucleotide variant (missense variant)	Wolcott-Rallison dysplasia +1 more	GUncertain significance
Select item 522521	NM_004836.7(EIF2AK3):c.503G>A (p.Arg168His)	EIF2AK3 (R168H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1117258	NM_004836.7(EIF2AK3):c.447G>A (p.Gly149=)	EIF2AK3	Single nucleotide variant (5 prime UTR variant +1 more)	Wolcott-Rallison dysplasia +1 more	GLikely benign
Select item 1148135	NM_004836.7(EIF2AK3):c.441A>G (p.Val147=)	EIF2AK3	Single nucleotide variant (5 prime UTR variant +1 more)	Wolcott-Rallison dysplasia +1 more	GLikely benign
Select item 1125747	NM_004836.7(EIF2AK3):c.402C>T (p.Ser134=)	EIF2AK3	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GLikely benign
Select item 1516440	NM_004836.7(EIF2AK3):c.328A>G (p.Thr110Ala)	EIF2AK3 (T110A)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 895664	NM_004836.7(EIF2AK3):c.236C>T (p.Pro79Leu)	EIF2AK3 (P79L)	Single nucleotide variant (missense variant)	Monogenic diabetes +2 more	GLikely benign
Select item 193296	NM_004836.7(EIF2AK3):c.154G>A (p.Ala52Thr)	EIF2AK3 (A52T)	Single nucleotide variant (missense variant)	Wolcott-Rallison dysplasia +4 more	GBenign/Likely benign
Select item 917440	NM_004836.7(EIF2AK3):c.149C>T (p.Ala50Val)	EIF2AK3 (A50V)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1509646	NM_004836.7(EIF2AK3):c.103G>C (p.Gly35Arg)	EIF2AK3 (G35R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1524407	NM_004836.7(EIF2AK3):c.86C>T (p.Ala29Val)	EIF2AK3 (A29V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1609713	NM_004836.7(EIF2AK3):c.72G>C (p.Ala24=)	EIF2AK3	Single nucleotide variant (synonymous variant)	Wolcott-Rallison dysplasia +1 more	GLikely benign
Select item 786862	NM_004836.7(EIF2AK3):c.69C>T (p.Leu23=)	EIF2AK3	Single nucleotide variant (synonymous variant)	Wolcott-Rallison dysplasia +1 more	GBenign/Likely benign
Select item 1377842	NM_004836.7(EIF2AK3):c.63G>A (p.Leu21=)	EIF2AK3	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity

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Items: 62