"Fulgent Genetics, Fulgent Genetics"[submitter] AND "CHST6"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 320603	NM_021615.5(CHST6):c.1030C>T (p.Arg344Cys)	CHST6 (R344C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1300205	NM_021615.5(CHST6):c.847_848delinsTG (p.Glu283Ter)	CHST6 (E283*)	Indel (nonsense)	Macular corneal dystrophy	GPathogenic/Likely pathogenic
Select item 5075	NM_021615.5(CHST6):c.599T>G (p.Leu200Arg)	CHST6 (L200R)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 886986	NM_021615.5(CHST6):c.496C>G (p.Arg166Gly)	CHST6 (R166G)	Single nucleotide variant (missense variant)	Macular corneal dystrophy +1 more	GUncertain significance
Select item 5076	NM_021615.5(CHST6):c.304T>G (p.Cys102Gly)	CHST6 (C102G)	Single nucleotide variant (missense variant)	Macular corneal dystrophy	GPathogenic
Select item 497526	NM_021615.5(CHST6):c.172C>T (p.Gln58Ter)	CHST6 (Q58*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic

ClinVar