"Eurofins Ntd Llc (ga)"[submitter] AND "EOMES"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 500198	NM_001278182.2(EOMES):c.1761C>T (p.Thr587=)	EOMES	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 218588	NM_001278182.2(EOMES):c.436C>T (p.Leu146Phe)	EOMES, LOC129936390 (L146F)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 497062	NM_001278182.2(EOMES):c.360CGC[9] (p.Ala129_Ala130dup)	EOMES, LOC129936390	Microsatellite (inframe_insertion +1 more)	not specified	GLikely benign
Select item 193314	NM_001278182.2(EOMES):c.360CGC[8] (p.Ala130dup)	EOMES, LOC129936390	Microsatellite (inframe_insertion +1 more)	not specified +1 more	GBenign/Likely benign
Select item 210936	NM_001278182.2(EOMES):c.358_359insGCGCCG (p.Ala119_Ala120insGlyAla)	EOMES, LOC129936390	Insertion (inframe_insertion +1 more)	not specified	GConflicting classifications of pathogenicity
Select item 137212	NM_001278182.2(EOMES):c.359C>G (p.Ala120Gly)	EOMES, LOC129936390 (A120G)	Single nucleotide variant (intron variant +1 more)	not specified	GBenign
Select item 593475	NM_001278182.2(EOMES):c.117G>A (p.Ala39=)	EOMES	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance

ClinVar