Related gene-specific medical variations for Gene (Select 253935) - ClinVar - NCBI

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Items: 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2554236	NM_020802.4(CEP126):c.77C>G (p.Ala26Gly)	ANGPTL5, CEP126 (A26G)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2342735	NM_020802.4(CEP126):c.13A>T (p.Arg5Trp)	ANGPTL5, CEP126 (R5W)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2326405	NM_020802.4(CEP126):c.59C>T (p.Ser20Leu)	ANGPTL5, CEP126 (S20L)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance

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