"Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 255803	NM_000302.4(PLOD1):c.294C>T (p.Phe98=)	PLOD1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 +2 more	GBenign
Select item 196247	NM_000302.4(PLOD1):c.295G>A (p.Ala99Thr)	PLOD1 (A99T +1 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GBenign/Likely benign
Select item 440168	NM_000302.4(PLOD1):c.303C>T (p.Ser101=)	PLOD1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GConflicting classifications of pathogenicity
Select item 255804	NM_000302.4(PLOD1):c.358G>T (p.Ala120Ser)	PLOD1 (A120S +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 644789	NM_000302.4(PLOD1):c.508G>A (p.Glu170Lys)	PLOD1 (E170K +1 more)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GUncertain significance
Select item 384719	NM_000302.4(PLOD1):c.644-17T>G	PLOD1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 255799	NM_000302.4(PLOD1):c.1206C>T (p.Asn402=)	PLOD1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GBenign

ClinVar