SiMPLOD Statistics

All SiMPLOD entries		1187
Gene affected
	LH1/PLOD1 variants	482
	LH2(a/b)/PLOD2(a/b) variants	256
	LH3/PLOD3 variants	442
	L230 variants	7
Variant type
	Point mutations (yielding synonymous aminoacids)	298
	Point mutations (yielding non synonymous aminoacids)	810
	Deletions, duplications, frame shifts, truncations	79
Implication in disease
	Biochemical variants	59
	SNPs without additional phenotype annotations	819
	Benign	13
	Likely benign	46
	Benign/Likely benign	14
	Uncertain significance	163
	Conflicting interpretations of pathogenicity	15
	Likely pathogenic	8
	Pathogenic/Likely pathogenic	1
	Pathogenic	49
Disease phenotype
	Ehlers-Danlos Syndrome (type VIa), hydroxylysine-deficient	159
	Ehlers-Danlos Syndrome, cardiovascular phenotype	44
	Bruck Syndrome (Type II)	25
	Connective tissue disorder (similar to osteogenesis imperfecta)	4
	Other disease phenotypes (as of ClinVar annotation)	2
Implications on protein molecular structures
	Variations unlikely to be compatible with folded LH enzymes	89
	Variations possibly compatible with folded LH enzymes	755
	Variations confirmed yielding folded LH enzymes	360
Available literature support
	Variations described in publications	114
	Variations without supporting publications	1073