Related gene-specific medical variations for Gene (Select 6309) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1722313	NM_006918.5(SC5D):c.608T>C (p.Ile203Thr)	SC5D (I203T)	Single nucleotide variant (missense variant)	Lathosterolosis	GUncertain significance
Select item 873297	NM_006918.5(SC5D):c.210+368_210+370del	SC5D	Deletion (intron variant)	not specified	GBenign
Select item 873292	NM_006918.5(SC5D):c.-10-2064del	SC5D	Deletion (intron variant)	not specified	GBenign
Select item 591161	NM_006918.5(SC5D):c.649C>T (p.Gln217Ter)	SC5D (Q217*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance

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