"CHST6-related disorder"[Disease/phenotype] AND "PreventionGenetics, p - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3034068	NM_021615.5(CHST6):c.820G>C (p.Glu274Gln)	CHST6 (E274Q)	Single nucleotide variant (missense variant)	CHST6-related disorder	GUncertain significance
Select item 3044132	NM_021615.5(CHST6):c.747C>T (p.His249=)	CHST6	Single nucleotide variant (synonymous variant)	CHST6-related disorder	GLikely benign
Select item 320610	NM_021615.5(CHST6):c.666C>T (p.Asn222=)	CHST6	Single nucleotide variant (synonymous variant)	CHST6-related disorder +1 more	GBenign
Select item 320612	NM_021615.5(CHST6):c.465G>A (p.Arg155=)	CHST6	Single nucleotide variant (synonymous variant)	CHST6-related disorder +1 more	GBenign
Select item 886988	NM_021615.5(CHST6):c.301C>T (p.Leu101=)	CHST6	Single nucleotide variant (synonymous variant)	Macular corneal dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 463681	NM_021615.5(CHST6):c.294C>G (p.Ser98=)	CHST6	Single nucleotide variant (synonymous variant)	CHST6-related disorder +1 more	GBenign
Select item 784589	NM_021615.5(CHST6):c.130C>T (p.Leu44=)	CHST6	Single nucleotide variant (synonymous variant)	CHST6-related disorder +1 more	GBenign/Likely benign
Select item 3040696	NM_021615.5(CHST6):c.39G>A (p.Ala13=)	CHST6	Single nucleotide variant (synonymous variant)	CHST6-related disorder	GLikely benign

ClinVar