Related gene-specific medical variations for Gene (Select 8665) - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3359241	NM_003754.3(EIF3F):c.181C>T (p.Gln61Ter)	EIF3F (Q61*)	Single nucleotide variant (nonsense)	Intellectual developmental disorder, autosomal recessive 67	GLikely pathogenic
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 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 3049797	NM_003754.3(EIF3F):c.996+9C>T	EIF3F, LOC126861132	Single nucleotide variant (intron variant)	EIF3F-related disorder	GBenign
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 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 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 1723119	NM_003754.3(EIF3F):c.799A>G (p.Ser267Gly)	EIF3F, LOC126861132 (S267G)	Single nucleotide variant (missense variant)	not provided	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 1697326	NM_003754.3(EIF3F):c.861dup (p.Gln288fs)	EIF3F, LOC126861132 (Q288fs)	Duplication (frameshift variant)	Intellectual developmental disorder, autosomal recessive 67	GPathogenic
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 978126	NM_003754.3(EIF3F):c.263G>A (p.Gly88Asp)	EIF3F (G88D)	Single nucleotide variant (missense variant)	Intellectual disability	GUncertain significance