Related gene-specific medical variations for Gene (Select 55336) - ClinVar - NCBI

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Items: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3047298	NM_018378.3(FBXL8):c.*191C>G	FBXL8, HSF4	Single nucleotide variant (3 prime UTR variant +1 more)	FBXL8-related condition	GLikely benign
Select item 886482	NM_018378.3(FBXL8):c.*277C>T	FBXL8, HSF4	Single nucleotide variant (5 prime UTR variant +1 more)	Cataract 5 multiple types	GLikely benign
Select item 320169	NM_018378.3(FBXL8):c.*248A>G	FBXL8, HSF4	Single nucleotide variant (5 prime UTR variant +1 more)	Cataract 5 multiple types	GUncertain significance
Select item 320168	NM_018378.3(FBXL8):c.1090G>A (p.Glu364Lys)	FBXL8, HSF4 (E364K)	Single nucleotide variant (5 prime UTR variant +1 more)	Cataract 5 multiple types	GBenign

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