EIF4A2[gene] - ClinVar

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Items: 90

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	LOC123453201, LOC123453202 +1450 more	Copy number gain	See cases	GPathogenic
Select item 150609	GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3	LOC129938169, LOC129938170 +1318 more	Copy number gain	See cases	GPathogenic
Select item 154213	GRCh38/hg38 3q25.31-29(chr3:156118441-198125115)x3	LOC108281160, LOC108281177 +1247 more	Copy number gain	See cases	GPathogenic
Select item 152257	GRCh38/hg38 3q25.31-29(chr3:156321878-198113452)x3	ABCC5, ABCC5-AS1 +1245 more	Copy number gain	See cases	GPathogenic
Select item 57984	GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3	LOC132088897, LOC132088898 +1201 more	Copy number gain	See cases	GPathogenic
Select item 155627	GRCh38/hg38 3q26.1-29(chr3:166137209-198125115)x3	LOC129938260, LOC129938261 +1064 more	Copy number gain	See cases	GPathogenic
Select item 153893	GRCh38/hg38 3q26.1-28(chr3:167717962-188365272)x3	ABCC5, ABCC5-AS1 +627 more	Copy number gain	See cases	GLikely pathogenic
Select item 148012	GRCh38/hg38 3q26.2-29(chr3:168167568-198110178)x3	LOC129938077, LOC129938078 +1041 more	Copy number gain	See cases	GPathogenic
Select item 149685	GRCh38/hg38 3q26.32-29(chr3:176168525-198118383)x3	ZMAT3, ZNF639 +867 more	Copy number gain	See cases	GPathogenic
Select item 148947	GRCh38/hg38 3q26.32-29(chr3:176439911-198118383)x3	LOC129938282, LOC129938283 +866 more	Copy number gain	See cases	GPathogenic
Select item 153734	GRCh38/hg38 3q26.33-28(chr3:181138664-192512023)x1	ABCC5, ABCC5-AS1 +399 more	Copy number loss	See cases	GPathogenic
Select item 150107	GRCh38/hg38 3q27.2-27.3(chr3:184843627-187461008)x3	ADIPOQ, ADIPOQ-AS1 +131 more	Copy number gain	See cases	GPathogenic
Select item 57868	GRCh38/hg38 3q27.2-29(chr3:185485849-198110178)x1	MIR944, MUC20 +557 more	Copy number loss	See cases	GPathogenic
Select item 148900	GRCh38/hg38 3q27.3-29(chr3:186765148-194409416)x1	ADIPOQ, ADIPOQ-AS1 +237 more	Copy number loss	See cases	GPathogenic
Select item 3034652	NM_001967.4(EIF4A2):c.-8T>C	EIF4A2	Single nucleotide variant (5 prime UTR variant)	EIF4A2-related disorder	GLikely benign
Select item 2636384	NM_001967.4(EIF4A2):c.-7_13del (p.Met1fs)	EIF4A2 (M1fs)	Deletion (frameshift variant +1 more)	EIF4A2-related disorder	GUncertain significance
Select item 2662246	NM_001967.4(EIF4A2):c.1A>T (p.Met1Leu)	EIF4A2 (M1L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1712514	NM_001967.4(EIF4A2):c.5C>G (p.Ser2Cys)	EIF4A2 (S2C)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GLikely pathogenic
Select item 3057523	NM_001967.4(EIF4A2):c.24T>C (p.Tyr8=)	EIF4A2	Single nucleotide variant (synonymous variant)	EIF4A2-related disorder	GLikely benign
Select item 1712515	NM_001967.4(EIF4A2):c.106GAT[1] (p.Asp37del)	EIF4A2 (D37del)	Microsatellite (inframe_deletion)	Neurodevelopmental disorder	GLikely pathogenic
Select item 1712516	NM_001967.4(EIF4A2):c.131_132del (p.Leu44fs)	EIF4A2 (L44fs)	Microsatellite (frameshift variant)	not provided	GLikely pathogenic
Select item 1722504	NM_001967.4(EIF4A2):c.186_187del (p.Arg62fs)	EIF4A2 (R62fs)	Microsatellite (frameshift variant)	Neurodevelopmental disorder with hypotonia and speech delay, with or without seizures	GPathogenic
Select item 1712517	NM_001967.4(EIF4A2):c.[1161_1166del;186_187del]	EIF4A2 (R62fs)	Microsatellite (frameshift variant +1 more)	Neurodevelopmental disorder	GLikely pathogenic
Select item 3031625	NM_001967.4(EIF4A2):c.209-3dup	EIF4A2	Duplication (intron variant)	EIF4A2-related disorder	GLikely benign
Select item 3275024	NM_001967.4(EIF4A2):c.294G>T (p.Glu98Asp)	EIF4A2 (E98D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3275025	NM_001967.4(EIF4A2):c.295T>C (p.Phe99Leu)	EIF4A2 (F99L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2136027	NM_001967.4(EIF4A2):c.368C>T (p.Ala123Val)	EIF4A2 (A123V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3358026	NM_001967.4(EIF4A2):c.423T>A (p.Val141=)	EIF4A2	Single nucleotide variant (synonymous variant)	EIF4A2-related disorder	GLikely benign
Select item 2245064	NM_001967.4(EIF4A2):c.457C>T (p.Pro153Ser)	EIF4A2 (P153S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2516435	NM_001967.4(EIF4A2):c.464T>C (p.Ile155Thr)	EIF4A2 (I155T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1712247	NM_001967.4(EIF4A2):c.481G>T (p.Gly161Trp)	EIF4A2 (G161W)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GLikely pathogenic
Select item 3028940	NM_001967.4(EIF4A2):c.514del (p.Leu172fs)	EIF4A2 (L172fs)	Deletion (frameshift variant)	EIF4A2-related disorder	GUncertain significance
Select item 2691878	NM_001967.4(EIF4A2):c.517+1G>T	EIF4A2	Single nucleotide variant (splice donor variant)	Neurodevelopmental disorder with hypotonia and speech delay, with or without seizures	GLikely pathogenic
Select item 3048221	NM_001967.4(EIF4A2):c.518-7C>T	EIF4A2	Single nucleotide variant (intron variant)	EIF4A2-related disorder	GBenign
Select item 1712518	NM_001967.4(EIF4A2):c.641C>A (p.Ser214Tyr)	EIF4A2 (S214Y)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GLikely pathogenic
Select item 1712519	NM_001967.4(EIF4A2):c.646A>G (p.Thr216Ala)	EIF4A2 (T216A)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1712520	NM_001967.4(EIF4A2):c.647C>T (p.Thr216Ile)	EIF4A2 (T216I)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2443418	NM_001967.4(EIF4A2):c.691G>T (p.Asp231Tyr)	EIF4A2 (D231Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1342150	NM_001967.4(EIF4A2):c.728C>T (p.Thr243Ile)	EIF4A2 (T243I)	Single nucleotide variant (missense variant)	Intellectual disability with muscular spams +1 more	GPathogenic/Likely pathogenic
Select item 3042243	NM_001967.4(EIF4A2):c.744A>G (p.Lys248=)	EIF4A2	Single nucleotide variant (synonymous variant)	EIF4A2-related disorder	GBenign
Select item 3344788	NM_001967.4(EIF4A2):c.768_771del (p.Glu257fs)	EIF4A2 (E257fs)	Microsatellite (frameshift variant)	EIF4A2-related disorder	GUncertain significance
Select item 3052628	NM_001967.4(EIF4A2):c.771+5C>T	EIF4A2	Single nucleotide variant (intron variant)	EIF4A2-related disorder	GLikely benign
Select item 3042089	NM_001967.4(EIF4A2):c.772-3C>T	EIF4A2	Single nucleotide variant (intron variant)	EIF4A2-related disorder	GBenign
Select item 3024524	NM_001967.4(EIF4A2):c.808dup (p.Thr270fs)	EIF4A2 (T270fs)	Duplication (frameshift variant)	Neurodevelopmental disorder with hypotonia and speech delay, with or without seizures	GUncertain significance
Select item 2504658	NM_001967.4(EIF4A2):c.896_897del (p.Thr299fs)	EIF4A2 (T299fs)	Microsatellite (frameshift variant)	not provided	GUncertain significance
Select item 2576834	NM_001967.4(EIF4A2):c.935_938del (p.Arg312fs)	EIF4A2 (R312fs)	Microsatellite (frameshift variant)	not provided	GUncertain significance
Select item 1712521	NM_001967.4(EIF4A2):c.945_947del (p.Ile315del)	EIF4A2 (I315del)	Deletion (inframe_deletion)	Neurodevelopmental disorder	GLikely pathogenic
Select item 3258096	NM_001967.4(EIF4A2):c.944T>C (p.Ile315Thr)	EIF4A2 (I315T)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia and speech delay, with or without seizures	GUncertain significance
Select item 2654341	NM_001967.4(EIF4A2):c.999+2T>C	EIF4A2	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2665048	NM_001967.4(EIF4A2):c.1004G>A (p.Arg335His)	EIF4A2 (R335H)	Single nucleotide variant (missense variant)	EIF4A2-related Neurodevelopmental Syndrome	GUncertain significance
Select item 1712522	NM_001967.4(EIF4A2):c.1032G>C (p.Leu344Phe)	EIF4A2 (L344F)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder +1 more	GPathogenic/Likely pathogenic
Select item 2627013	NM_001967.4(EIF4A2):c.1060C>T (p.Arg354Cys)	EIF4A2 (R354C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1342183	NM_001967.4(EIF4A2):c.1091G>A (p.Gly364Glu)	EIF4A2 (G364E)	Single nucleotide variant (missense variant)	Neurodevelopmental delay +1 more	GPathogenic/Likely pathogenic
Select item 2572859	NM_001967.4(EIF4A2):c.1096C>T (p.Arg366Ter)	EIF4A2 (R366*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3353118	NM_001967.4(EIF4A2):c.1128T>C (p.Phe376=)	EIF4A2	Single nucleotide variant (synonymous variant)	EIF4A2-related disorder	GLikely benign
Select item 3087980	NM_001967.4(EIF4A2):c.1143dup (p.Lys382fs)	EIF4A2 (K382fs)	Duplication (frameshift variant)	Inborn genetic diseases	GUncertain significance
Select item 2503255	NM_001967.4(EIF4A2):c.1156C>T (p.Arg386Cys)	EIF4A2 (R386C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1722505	NM_001967.4(EIF4A2):c.1161_1166del (p.Asp387_Ile388del)	EIF4A2	Deletion (inframe_deletion)	Neurodevelopmental disorder with hypotonia and speech delay, with or without seizures	GPathogenic
Select item 3148910	GRCh37/hg19 3q26.33-29(chr3:179313373-197851444)x3	ABCC5, ABCF3 +136 more	Copy number gain	See cases	GPathogenic
Select item 2671619	Single allele	ABCC5, ABCF3 +145 more	Duplication	not provided	GPathogenic
Select item 2671595	Single allele	MUC20, MUC4 +286 more	Duplication	not provided	GPathogenic
Select item 2426290	NC_000003.11:g.(?_186256485)_(187009420_?)dup	ADIPOQ, AHSG +14 more	Duplication	3MC syndrome 1	GUncertain significance
Select item 1809046	GRCh37/hg19 3q27.1-28(chr3:184170962-188047867)x1	ADIPOQ, AHSG +32 more	Copy number loss	not provided	GLikely pathogenic
Select item 1707630	GRCh37/hg19 3q26.31-29(chr3:171558472-197871052)x3	CCDC50, MELTF +155 more	Copy number gain	Isolated anorectal malformation	GLikely pathogenic
Select item 1707428	GRCh37/hg19 3q27.1-29(chr3:183498520-197851986)x3	ABCC5, ABCF3 +118 more	Copy number gain	See cases	GPathogenic
Select item 1703654	GRCh37/hg19 3q27.1-28(chr3:183556940-188083060)	ABCC5, ABCF3 +53 more	Copy number loss	Short stature	GPathogenic
Select item 1527065	GRCh37/hg19 3q27.3(chr3:186149060-186599706)	ADIPOQ, AHSG +10 more	Copy number loss	not specified	GUncertain significance
Select item 1527063	GRCh37/hg19 3q27.1-27.3(chr3:183178932-186838042)	ABCC5, ABCF3 +49 more	Copy number loss	not specified	GPathogenic
Select item 1527061	GRCh37/hg19 3q26.33-27.3(chr3:182189525-187212935)	ABCC5, ABCF3 +59 more	Copy number loss	not specified	GPathogenic
Select item 1328104	GRCh37/hg19 3q26.31-27.3(chr3:175119199-187592480)x3	ABCC5, ABCF3 +82 more	Copy number gain	not provided	GPathogenic
Select item 980556	GRCh37/hg19 3q27.3(chr3:186493742-186668140)x3	SNORA81, ADIPOQ +4 more	Copy number gain	not provided	GLikely benign
Select item 980554	GRCh37/hg19 3q27.1-27.3(chr3:182877291-186830759)x1	CLCN2, YEATS2 +52 more	Copy number loss	not provided	GPathogenic
Select item 832891	NC_000003.11:g.(?_186256465)_(187009440_?)del	ADIPOQ, AHSG +14 more	Deletion	3MC syndrome 1	GPathogenic
Select item 814507	GRCh37/hg19 3q27.2-27.3(chr3:185879162-187446035)x1	ST6GAL1, DNAJB11 +19 more	Copy number loss	not provided	GPathogenic
Select item 814497	GRCh37/hg19 3q26.2-28(chr3:169617690-190593854)x3	FXR1, HTR3D +113 more	Copy number gain	not provided	GPathogenic
Select item 688039	GRCh37/hg19 3q27.3(chr3:186493742-186672011)x3	ADIPOQ, EIF4A2 +4 more	Copy number gain	not provided	GUncertain significance
Select item 686708	GRCh37/hg19 3q27.3(chr3:186493742-186672007)x3	ADIPOQ, EIF4A2 +4 more	Copy number gain	not provided	GUncertain significance
Select item 562852	GRCh37/hg19 3q27.3-29(chr3:186374365-197851986)x3	PCYT1A, TNK2-AS1 +77 more	Copy number gain	not provided	GPathogenic
Select item 562850	GRCh37/hg19 3q27.1-29(chr3:184003967-197851986)x3	FYTTD1, FAM43A +103 more	Copy number gain	not provided	GPathogenic
Select item 562848	GRCh37/hg19 3q26.33-28(chr3:182650681-191275809)x1	KNG1, FETUB +75 more	Copy number loss	not provided	GPathogenic
Select item 562847	GRCh37/hg19 3q26.33-29(chr3:182539234-197851986)x3	PPP1R2, TBCCD1 +126 more	Copy number gain	not provided	GPathogenic
Select item 531899	NC_000003.11:g.(?_186256465)_(186980528_?)del	ADIPOQ, AHSG +14 more	Deletion	3MC syndrome 1	GPathogenic
Select item 523279	GRCh37/hg19 3q27.1-28(chr3:184300169-188285627)	FETUB, HRG +32 more	Copy number loss	Cognitive impairment +1 more	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 394816	GRCh37/hg19 3q27.2-27.3(chr3:185419048-186575415)x1	ADIPOQ, AHSG +14 more	Copy number loss	See cases	GPathogenic
Select item 393885	GRCh37/hg19 3q25.32-29(chr3:158980631-197766890)x3	ABCC5, ABCF3 +198 more	Copy number gain	See cases	GPathogenic
Select item 253655	GRCh37/hg19 3q27.3-28(chr3:186291045-191037240)x1	GMNC, UTS2B +28 more	Copy number loss	See cases	GPathogenic
Select item 253377	GRCh37/hg19 3q24-29(chr3:142995020-192997215)x4	AADAC, AADACL2 +220 more	Copy number gain	See cases	GPathogenic

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Items: 90