EIF3F[gene] and "single gene"[properties] - ClinVar

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Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 +1 more	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 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)	EIF3F-related disorder +1 more	GConflicting classifications of pathogenicity
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 +1 more	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 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)	EIF3F-related disorder +2 more	GBenign
Select item 2692445	NM_003754.3(EIF3F):c.591C>T (p.Pro197=)	EIF3F	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 +1 more	GConflicting classifications of pathogenicity
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 developmental disorder, autosomal recessive 67 +6 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 +1 more	GConflicting classifications of pathogenicity
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 2692443	NM_003754.3(EIF3F):c.1000C>T (p.Leu334Phe)	EIF3F (L334F)	Single nucleotide variant (missense variant)	not provided	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

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Items: 43