EIF3F[gene] - ClinVar

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Items: 78

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151263	GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)x3	DENND5A, DNHD1 +723 more	Copy number gain	See cases	GPathogenic
Select item 144515	GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3	TRIM22, TRIM3 +917 more	Copy number gain	See cases	GPathogenic
Select item 3045137	NM_003754.3(EIF3F):c.10C>T (p.Pro4Ser)	EIF3F (P4S)	Single nucleotide variant (missense variant)	EIF3F-related disorder	GLikely benign
Select item 2570795	NM_003754.3(EIF3F):c.10C>G (p.Pro4Ala)	EIF3F (P4A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2342515	NM_003754.3(EIF3F):c.19C>T (p.Pro7Ser)	EIF3F (P7S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2498504	NM_003754.3(EIF3F):c.21A>G (p.Pro7=)	EIF3F	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2264421	NM_003754.3(EIF3F):c.23T>G (p.Val8Gly)	EIF3F (V8G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3364452	NM_003754.3(EIF3F):c.31C>T (p.Pro11Ser)	EIF3F (P11S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3060960	NM_003754.3(EIF3F):c.35C>T (p.Pro12Leu)	EIF3F (P12L)	Single nucleotide variant (missense variant)	EIF3F-related disorder	GBenign
Select item 2266792	NM_003754.3(EIF3F):c.47C>T (p.Thr16Ile)	EIF3F (T16I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3025223	NM_003754.3(EIF3F):c.49C>G (p.Pro17Ala)	EIF3F (P17A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1675448	NM_003754.3(EIF3F):c.50C>A (p.Pro17Gln)	EIF3F (P17Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3035552	NM_003754.3(EIF3F):c.55C>T (p.Pro19Ser)	EIF3F (P19S)	Single nucleotide variant (missense variant)	EIF3F-related disorder	GLikely benign
Select item 3056649	NM_003754.3(EIF3F):c.116C>T (p.Pro39Leu)	EIF3F (P39L)	Single nucleotide variant (missense variant)	EIF3F-related disorder	GBenign
Select item 2641575	NM_003754.3(EIF3F):c.129A>C (p.Pro43=)	EIF3F	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3033107	NM_003754.3(EIF3F):c.134C>T (p.Ser45Leu)	EIF3F (S45L)	Single nucleotide variant (missense variant)	EIF3F-related disorder	GBenign
Select item 2231820	NM_003754.3(EIF3F):c.140C>T (p.Ser47Leu)	EIF3F (S47L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2230562	NM_003754.3(EIF3F):c.152C>G (p.Ala51Gly)	EIF3F (A51G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2641576	NM_003754.3(EIF3F):c.204T>A (p.Ala68=)	EIF3F	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3039652	NM_003754.3(EIF3F):c.225C>A (p.Pro75=)	EIF3F	Single nucleotide variant (synonymous variant)	EIF3F-related disorder	GLikely benign
Select item 2662068	NM_003754.3(EIF3F):c.226_227delinsTG (p.Ala76Cys)	EIF3F (A76C)	Indel (missense variant)	not provided	GUncertain significance
Select item 3038067	NM_003754.3(EIF3F):c.227C>G (p.Ala76Gly)	EIF3F (A76G)	Single nucleotide variant (missense variant)	EIF3F-related disorder	GBenign
Select item 2578652	NM_003754.3(EIF3F):c.233C>T (p.Pro78Leu)	EIF3F (P78L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2568429	NM_003754.3(EIF3F):c.242C>G (p.Ala81Gly)	EIF3F (A81G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 978126	NM_003754.3(EIF3F):c.263G>A (p.Gly88Asp)	EIF3F (G88D)	Single nucleotide variant (missense variant)	Intellectual disability	GUncertain significance
Select item 2641577	NM_003754.3(EIF3F):c.276C>G (p.Val92=)	EIF3F	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2238749	NM_003754.3(EIF3F):c.301T>A (p.Ser101Thr)	EIF3F (S101T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3055769	NM_003754.3(EIF3F):c.342C>T (p.Ala114=)	EIF3F	Single nucleotide variant (synonymous variant)	EIF3F-related disorder	GBenign
Select item 3347826	NM_003754.3(EIF3F):c.435+7G>A	EIF3F	Single nucleotide variant (intron variant)	EIF3F-related disorder	GLikely benign
Select item 3087955	NM_003754.3(EIF3F):c.476T>G (p.Leu159Arg)	EIF3F (L159R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2347550	NM_003754.3(EIF3F):c.493C>G (p.Pro165Ala)	EIF3F (P165A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3041036	NM_003754.3(EIF3F):c.504C>T (p.Leu168=)	EIF3F	Single nucleotide variant (synonymous variant)	EIF3F-related disorder	GLikely benign
Select item 3026230	NM_003754.3(EIF3F):c.519C>T (p.Tyr173=)	EIF3F	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2581166	NM_003754.3(EIF3F):c.523del (p.Thr175fs)	EIF3F (T175fs)	Deletion (frameshift variant)	not specified	GUncertain significance
Select item 2672458	NM_003754.3(EIF3F):c.525G>A (p.Thr175=)	EIF3F	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2641578	NM_003754.3(EIF3F):c.555G>A (p.Leu185=)	EIF3F	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1255378	NM_003754.3(EIF3F):c.561C>T (p.His187=)	EIF3F	Single nucleotide variant (synonymous variant)	Intellectual developmental disorder, autosomal recessive 67 +1 more	GBenign
Select item 2692445	NM_003754.3(EIF3F):c.591C>T (p.Pro197=)	EIF3F	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2379087	NM_003754.3(EIF3F):c.629G>A (p.Arg210His)	EIF3F (R210H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1879199	NM_003754.3(EIF3F):c.649G>A (p.Val217Ile)	EIF3F (V217I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 996992	NM_003754.3(EIF3F):c.653+3G>T	EIF3F	Single nucleotide variant (intron variant)	Intellectual developmental disorder, autosomal recessive 67	GUncertain significance
Select item 988781	NM_003754.3(EIF3F):c.671C>T (p.Pro224Leu)	EIF3F (P224L)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, autosomal recessive 67	GLikely pathogenic
Select item 617475	NM_003754.3(EIF3F):c.694T>G (p.Phe232Val)	EIF3F (F232V)	Single nucleotide variant (missense variant)	Intellectual disability +5 more	GPathogenic/Likely pathogenic
Select item 2663599	NM_003754.3(EIF3F):c.719C>T (p.Ala240Val)	EIF3F (A240V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 721838	NM_003754.3(EIF3F):c.726C>T (p.Tyr242=)	EIF3F	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2558128	NM_003754.3(EIF3F):c.787A>G (p.Ile263Val)	EIF3F, LOC126861132 (I263V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1723119	NM_003754.3(EIF3F):c.799A>G (p.Ser267Gly)	EIF3F, LOC126861132 (S267G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2641579	NM_003754.3(EIF3F):c.816A>T (p.Val272=)	EIF3F, LOC126861132	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3087956	NM_003754.3(EIF3F):c.832C>T (p.Arg278Cys)	EIF3F, LOC126861132 (R278C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2368845	NM_003754.3(EIF3F):c.854C>T (p.Thr285Ile)	EIF3F, LOC126861132 (T285I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1697326	NM_003754.3(EIF3F):c.861dup (p.Gln288fs)	EIF3F, LOC126861132 (Q288fs)	Duplication (frameshift variant)	Intellectual developmental disorder, autosomal recessive 67	GPathogenic
Select item 3275006	NM_003754.3(EIF3F):c.876T>A (p.Asp292Glu)	EIF3F, LOC126861132 (D292E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1028654	NM_003754.3(EIF3F):c.908C>T (p.Thr303Ile)	EIF3F, LOC126861132 (T303I)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, autosomal recessive 67	GUncertain significance
Select item 1710038	NM_003754.3(EIF3F):c.916C>T (p.Arg306Cys)	EIF3F, LOC126861132 (R306C)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, autosomal recessive 67 +1 more	GUncertain significance
Select item 3049797	NM_003754.3(EIF3F):c.996+9C>T	EIF3F, LOC126861132	Single nucleotide variant (intron variant)	EIF3F-related disorder	GBenign
Select item 155423	GRCh38/hg38 11p15.4(chr11:7995676-10437205)x3	ADM, ADM-DT +135 more	Copy number gain	See cases	GUncertain significance
Select item 2692443	NM_003754.3(EIF3F):c.1000C>T (p.Leu334Phe)	EIF3F (L334F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3362634	NM_003754.3(EIF3F):c.1025A>G (p.Asn342Ser)	EIF3F (N342S)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, autosomal recessive 67	GUncertain significance
Select item 1255379	NM_003754.3(EIF3F):c.*24C>T	EIF3F	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 2684636	GRCh37/hg19 11p15.4(chr11:7922549-8155364)x3	EIF3F, NLRP10 +4 more	Copy number gain	not provided	GUncertain significance
Select item 2503522	GRCh37/hg19 11p15.5-15.4(chr11:230615-8821443)x3	ANO9, AP2A2 +210 more	Copy number gain	Russell-Silver syndrome	GPathogenic
Select item 1807629	GRCh37/hg19 11p15.5-15.4(chr11:230616-8250724)x3	CAVIN3, CCKBR +205 more	Copy number gain	not provided	GPathogenic
Select item 1707435	GRCh37/hg19 11p15.5-14.2(chr11:230615-26881146)x3	CYP2R1, DBX1 +308 more	Copy number gain	See cases	GPathogenic
Select item 981209	GRCh37/hg19 11p15.5-15.4(chr11:210300-8664358)x3	CHRNA10, CNGA4 +208 more	Copy number gain	Silver-Russell syndrome 1	GPathogenic
Select item 815395	GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3	CALCB, CARS1 +343 more	Copy number gain	not provided	GPathogenic
Select item 685542	GRCh37/hg19 11p15.4(chr11:7953436-8303138)x3	EIF3F, LMO1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 625559	GRCh37/hg19 11p15.5-15.3(chr11:193146-12643136)	C11orf40, C11orf42 +243 more	Copy number gain	Silver-Russell syndrome 1	GPathogenic
Select item 563883	GRCh37/hg19 11p15.5-15.1(chr11:230615-17099213)x3	ADM, AKIP1 +258 more	Copy number gain	not provided	GPathogenic
Select item 563880	GRCh37/hg19 11p15.5-15.4(chr11:230615-9704511)x3	AKIP1, ANO9 +222 more	Copy number gain	not provided	GPathogenic
Select item 563871	GRCh37/hg19 11p15.4(chr11:6969013-9257231)x3	ZNF214, NLRP10 +28 more	Copy number gain	not provided	GPathogenic
Select item 563868	GRCh37/hg19 11p15.4(chr11:7837338-9295428)x3	TRIM66, STK33 +18 more	Copy number gain	not provided	GUncertain significance
Select item 563863	GRCh37/hg19 11p15.4(chr11:7418934-8308834)x3	OR10A6, OR5P2 +12 more	Copy number gain	not provided	GUncertain significance
Select item 441985	GRCh37/hg19 11p15.5-13(chr11:230615-31995219)x3	DEAF1, DENND2B +327 more	Copy number gain	See cases	GPathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441787	GRCh37/hg19 11p15.5-14.3(chr11:230615-25584362)x3	ASCL3, CEND1 +305 more	Copy number gain	See cases	GPathogenic
Select item 441715	GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3	ART5, CCDC34 +364 more	Copy number gain	See cases	GPathogenic
Select item 3359241	NM_003754.3(EIF3F):c.181C>T (p.Gln61Ter)	EIF3F (Q61*)	Single nucleotide variant (nonsense)	Intellectual developmental disorder, autosomal recessive 67	GLikely pathogenic

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Items: 78