C0268342[trait identifier] AND "Revvity Omics, Revvity"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 955784	NM_000302.4(PLOD1):c.310G>A (p.Val104Met)	PLOD1 (V104M +1 more)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 +1 more	GUncertain significance
Select item 2067465	NM_000302.4(PLOD1):c.428C>T (p.Pro143Leu)	PLOD1 (P190L +1 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 2435086	NM_000302.4(PLOD1):c.466+65C>A	PLOD1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GUncertain significance
Select item 1046753	NM_000302.4(PLOD1):c.797G>A (p.Gly266Asp)	PLOD1 (G313D +1 more)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 +1 more	GUncertain significance
Select item 459805	NM_000302.4(PLOD1):c.1203-3C>T	PLOD1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 +2 more	GConflicting classifications of pathogenicity
Select item 14370	NM_000302.4(PLOD1):c.1533C>G (p.Tyr511Ter)	PLOD1 (Y511* +1 more)	Single nucleotide variant (nonsense)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 +4 more	GPathogenic
Select item 458635	NM_000033.4(ABCD1):c.1772G>A (p.Arg591Gln)	ABCD1 (R591Q)	Single nucleotide variant (missense variant)	Adrenoleukodystrophy +3 more	GPathogenic/Likely pathogenic

ClinVar