"PreventionGenetics, part of Exact Sciences"[submitter] AND "EEF1D"[ge - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3038338	NM_001130053.5(EEF1D):c.1857G>A (p.Lys619=)	EEF1D	Single nucleotide variant (synonymous variant)	EEF1D-related disorder	GBenign
Select item 3040141	NM_001130053.5(EEF1D):c.1752G>C (p.Val584=)	EEF1D	Single nucleotide variant (synonymous variant)	EEF1D-related disorder	GBenign
Select item 3060516	NM_001130053.5(EEF1D):c.1734C>T (p.Ala578=)	EEF1D	Single nucleotide variant (synonymous variant)	EEF1D-related disorder	GBenign
Select item 3040628	NM_001130053.5(EEF1D):c.1725G>A (p.Thr575=)	EEF1D	Single nucleotide variant (synonymous variant)	EEF1D-related disorder	GLikely benign
Select item 3049853	NM_001130053.5(EEF1D):c.1645G>T (p.Ala549Ser)	EEF1D (A159S +3 more)	Single nucleotide variant (missense variant)	EEF1D-related disorder	GLikely benign
Select item 3047308	NM_001130053.5(EEF1D):c.1388-3dup	EEF1D	Duplication (intron variant)	EEF1D-related disorder	GLikely benign
Select item 3035075	NM_001130053.5(EEF1D):c.1288-10T>C	EEF1D	Single nucleotide variant (intron variant)	EEF1D-related disorder	GLikely benign
Select item 784507	NM_001130053.5(EEF1D):c.1176C>T (p.Tyr392=)	EEF1D	Single nucleotide variant (synonymous variant)	EEF1D-related disorder +1 more	GBenign
Select item 3049636	NM_001130053.5(EEF1D):c.1058G>A (p.Arg353Gln)	EEF1D (R353Q)	Single nucleotide variant (missense variant +1 more)	EEF1D-related disorder	GBenign
Select item 3060921	NM_001130053.5(EEF1D):c.1008G>T (p.Arg336=)	EEF1D	Single nucleotide variant (synonymous variant +1 more)	EEF1D-related disorder	GBenign
Select item 3038727	NM_001130053.5(EEF1D):c.862C>T (p.Arg288Trp)	EEF1D (R288W)	Single nucleotide variant (missense variant +1 more)	EEF1D-related disorder	GLikely benign
Select item 3039615	NM_001130053.5(EEF1D):c.796G>A (p.Gly266Ser)	EEF1D (G266S)	Single nucleotide variant (missense variant +1 more)	EEF1D-related disorder	GLikely benign
Select item 3045543	NM_001130053.5(EEF1D):c.756C>T (p.Asp252=)	EEF1D	Single nucleotide variant (synonymous variant +1 more)	EEF1D-related disorder	GLikely benign
Select item 3039155	NM_001130053.5(EEF1D):c.354C>T (p.Phe118=)	EEF1D	Single nucleotide variant (synonymous variant +1 more)	EEF1D-related disorder	GLikely benign
Select item 3060863	NM_001130053.5(EEF1D):c.330C>T (p.Arg110=)	EEF1D	Single nucleotide variant (synonymous variant +1 more)	EEF1D-related disorder	GBenign
Select item 780132	NM_001130053.5(EEF1D):c.297G>A (p.Ala99=)	EEF1D	Single nucleotide variant (synonymous variant +1 more)	EEF1D-related disorder +1 more	GBenign
Select item 3053384	NM_001130053.5(EEF1D):c.105G>A (p.Ala35=)	EEF1D	Single nucleotide variant (synonymous variant +1 more)	EEF1D-related disorder	GLikely benign