Related gene-specific medical variations for Gene (Select 57562) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3142511	NM_020802.4(CEP126):c.2802G>C (p.Trp934Cys)	CEP126, LOC126861313 (W735C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142510	NM_020802.4(CEP126):c.2756C>T (p.Pro919Leu)	CEP126, LOC126861313 (P720L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142495	NM_020802.4(CEP126):c.115C>G (p.Pro39Ala)	ANGPTL5, CEP126 (P39A)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2554236	NM_020802.4(CEP126):c.77C>G (p.Ala26Gly)	ANGPTL5, CEP126 (A26G)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2483274	NM_020802.4(CEP126):c.2821C>G (p.Leu941Val)	CEP126, LOC126861313 (L742V +1 more)	Single nucleotide variant (missense variant)	not specified	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)	not specified	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)	not specified	GUncertain significance
Select item 2297750	NM_020802.4(CEP126):c.2825A>G (p.His942Arg)	CEP126, LOC126861313 (H942R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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