Related gene-specific medical variations for Gene (Select 1968) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2660181	NM_001415.4(EIF2S3):c.48G>C (p.Ser16=)	EIF2S3, LOC130068055	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2660180	NM_001415.4(EIF2S3):c.27T>C (p.Thr9=)	EIF2S3, LOC130068055	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2627784	NM_001415.4(EIF2S3):c.65C>T (p.Thr22Ile)	EIF2S3, LOC130068055 (T22I)	Single nucleotide variant (missense variant)	MEHMO syndrome	GUncertain significance
Select item 810535	NM_001415.4(EIF2S3):c.28C>T (p.Leu10=)	EIF2S3, LOC130068055	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 810534	NM_001415.4(EIF2S3):c.6G>T (p.Ala2=)	EIF2S3, LOC130068055	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 451349	NM_001415.4(EIF2S3):c.5C>G (p.Ala2Gly)	EIF2S3, LOC130068055 (A2G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

ClinVar