Related gene-specific medical variations for Gene (Select 8320) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3089272	NM_001278182.2(EOMES):c.391A>G (p.Thr131Ala)	EOMES, LOC129936390 (T131A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 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 3055317	NM_001278182.2(EOMES):c.360CGC[6] (p.Ala130del)	EOMES, LOC129936390 (A130del)	Microsatellite (intron variant)	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 2653639	NM_001278182.2(EOMES):c.378C>G (p.Ala126=)	EOMES, LOC129936390	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2653638	NM_001278182.2(EOMES):c.384T>G (p.Ala128=)	EOMES, LOC129936390	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2609545	NM_001278182.2(EOMES):c.352G>C (p.Ala118Pro)	EOMES, LOC129936390 (A118P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2474442	NM_001278182.2(EOMES):c.544G>C (p.Gly182Arg)	EOMES, LOC129936390 (G182R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2380028	NM_001278182.2(EOMES):c.424G>C (p.Glu142Gln)	EOMES, LOC129936390 (E142Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 771348	NM_001278182.2(EOMES):c.358_359insGCG (p.Ala119_Ala120insGly)	EOMES, LOC129936390	Insertion (inframe_insertion +1 more)	not provided	GBenign
Select item 727252	NM_001278182.2(EOMES):c.339G>A (p.Glu113=)	EOMES, LOC129936390	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 218588	NM_001278182.2(EOMES):c.436C>T (p.Leu146Phe)	EOMES, LOC129936390 (L146F)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
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 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 137212	NM_001278182.2(EOMES):c.359C>G (p.Ala120Gly)	LOC129936390, EOMES (A120G)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GBenign