"EOMES-related disorder"[Disease/phenotype] AND "PreventionGenetics, p - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 426870	NM_001278182.2(EOMES):c.692A>G (p.Tyr231Cys)	EOMES (Y231C)	Single nucleotide variant (missense variant +1 more)	EOMES-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 3046443	NM_001278182.2(EOMES):c.609C>T (p.Pro203=)	EOMES	Single nucleotide variant (synonymous variant +1 more)	EOMES-related disorder	GLikely benign
Select item 2653638	NM_001278182.2(EOMES):c.384T>G (p.Ala128=)	EOMES, LOC129936390	Single nucleotide variant (synonymous variant +1 more)	EOMES-related disorder +1 more	GLikely benign
Select item 3055317	NM_001278182.2(EOMES):c.360CGC[6] (p.Ala130del)	EOMES, LOC129936390 (A130del)	Microsatellite (inframe deletion +1 more)	EOMES-related disorder	GLikely benign
Select item 3055689	NM_001278182.2(EOMES):c.375C>G (p.Ala125=)	EOMES, LOC129936390	Single nucleotide variant (synonymous variant +1 more)	EOMES-related disorder	GLikely benign
Select item 3056950	NM_001278182.2(EOMES):c.369C>A (p.Ala123=)	EOMES, LOC129936390	Single nucleotide variant (synonymous variant +1 more)	EOMES-related disorder	GLikely benign
Select item 3049265	NM_001278182.2(EOMES):c.360C>T (p.Ala120=)	EOMES, LOC129936390	Single nucleotide variant (synonymous variant +1 more)	EOMES-related disorder	GLikely benign
Select item 727252	NM_001278182.2(EOMES):c.339G>A (p.Glu113=)	EOMES, LOC129936390	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 718935	NM_001278182.2(EOMES):c.271A>C (p.Ser91Arg)	EOMES (S91R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign
Select item 3048191	NM_001278182.2(EOMES):c.99T>A (p.Ala33=)	EOMES	Single nucleotide variant (synonymous variant +1 more)	EOMES-related disorder	GLikely benign