"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "CHST14"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1470416	NM_130468.4(CHST14):c.20C>A (p.Thr7Asn)	CHST14, LOC130056851 (T7N)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, musculocontractural type 1 +2 more	GUncertain significance
Select item 3380257	NM_130468.4(CHST14):c.31G>A (p.Ala11Thr)	CHST14, LOC130056851 (A11T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2429543	NM_130468.4(CHST14):c.301G>A (p.Asp101Asn)	CHST14 (D101N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 393005	NM_130468.4(CHST14):c.310G>A (p.Val104Met)	CHST14 (V104M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 536424	NM_130468.4(CHST14):c.471G>A (p.Val157=)	CHST14	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 943538	NM_130468.4(CHST14):c.507_508delinsTT (p.Ala170Ser)	CHST14 (A170S)	Indel (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 1163962	NM_130468.4(CHST14):c.798C>A (p.Tyr266Ter)	CHST14 (Y266*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 440975	NM_130468.4(CHST14):c.1033C>T (p.Arg345Trp)	CHST14 (R345W)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance

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