"PreventionGenetics, part of Exact Sciences"[submitter] AND "CHSY1"[ge - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1585330	NM_014918.5(CHSY1):c.1957C>G (p.Gln653Glu)	CHSY1 (Q653E)	Single nucleotide variant (missense variant)	Temtamy preaxial brachydactyly syndrome +1 more	GLikely benign
Select item 3032905	NM_014918.5(CHSY1):c.1386A>C (p.Lys462Asn)	CHSY1 (K462N)	Single nucleotide variant (missense variant)	CHSY1-related disorder	GUncertain significance
Select item 281557	NM_014918.5(CHSY1):c.1325T>C (p.Met442Thr)	CHSY1 (M442T)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 3036070	NM_014918.5(CHSY1):c.1040C>T (p.Thr347Ile)	CHSY1 (T347I)	Single nucleotide variant (missense variant)	CHSY1-related disorder	GUncertain significance
Select item 727864	NM_014918.5(CHSY1):c.1008C>T (p.Arg336=)	CHSY1	Single nucleotide variant (synonymous variant)	CHSY1-related disorder +1 more	GLikely benign
Select item 1598789	NM_014918.5(CHSY1):c.975C>T (p.Ser325=)	CHSY1	Single nucleotide variant (synonymous variant)	CHSY1-related disorder +1 more	GBenign/Likely benign
Select item 3057741	NM_014918.5(CHSY1):c.868A>C (p.Arg290=)	CHSY1	Single nucleotide variant (synonymous variant)	CHSY1-related disorder	GLikely benign
Select item 282382	NM_014918.5(CHSY1):c.666G>A (p.Gly222=)	CHSY1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign

ClinVar