"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "EEF2"[gene - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 447299	NM_001961.4(EEF2):c.2415C>T (p.Gly805=)	EEF2	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 994608	NM_001961.4(EEF2):c.2307C>T (p.His769=)	EEF2	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 2649020	NM_001961.4(EEF2):c.2185C>T (p.Leu729Phe)	EEF2, LOC130063169 (L729F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2200564	NM_001961.4(EEF2):c.2103C>T (p.Arg701=)	EEF2, LOC130063169	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 808421	NM_001961.4(EEF2):c.2090T>C (p.Met697Thr)	EEF2, LOC130063169 (M697T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 808422	NM_001961.4(EEF2):c.1702A>G (p.Ile568Val)	EEF2 (I568V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 724567	NM_001961.4(EEF2):c.1677G>A (p.Lys559=)	EEF2	Single nucleotide variant (synonymous variant)	EEF2-related condition +2 more	GBenign/Likely benign
Select item 1298734	NM_001961.4(EEF2):c.1638C>T (p.Ile546=)	EEF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3067760	NM_001961.4(EEF2):c.1553C>T (p.Pro518Leu)	EEF2 (P518L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2649021	NM_001961.4(EEF2):c.1423G>A (p.Val475Met)	EEF2 (V475M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2649022	NM_001961.4(EEF2):c.864C>A (p.Thr288=)	EEF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 447308	NM_001961.4(EEF2):c.811G>A (p.Gly271Ser)	EEF2 (G271S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1256091	NM_001961.4(EEF2):c.522C>T (p.Leu174=)	EEF2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 808423	NM_001961.4(EEF2):c.366C>T (p.Thr122=)	EEF2	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 804782	NM_001961.4(EEF2):c.288C>T (p.Ala96=)	EEF2	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 3027159	NM_001961.4(EEF2):c.229C>G (p.Leu77Val)	EEF2 (L77V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2649023	NM_001961.4(EEF2):c.132C>T (p.Gly44=)	EEF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign