"PreventionGenetics, part of Exact Sciences"[submitter] AND "PLOD3"[ge - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1528599	NM_001084.5(PLOD3):c.2088C>T (p.Tyr696=)	PLOD3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 734968	NM_001084.5(PLOD3):c.2004C>T (p.His668=)	PLOD3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 732293	NM_001084.5(PLOD3):c.1904C>T (p.Thr635Ile)	PLOD3 (T635I)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 624295	NM_001084.5(PLOD3):c.1678G>C (p.Glu560Gln)	PLOD3 (E560Q)	Single nucleotide variant (missense variant)	PLOD3-related disorder +2 more	GBenign/Likely benign
Select item 624296	NM_001084.5(PLOD3):c.1675G>A (p.Val559Met)	PLOD3 (V559M)	Single nucleotide variant (missense variant)	PLOD3-related disorder +1 more	GUncertain significance
Select item 1535399	NM_001084.5(PLOD3):c.1501-10C>T	PLOD3	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1397356	NM_001084.5(PLOD3):c.1500+7G>A	PLOD3	Single nucleotide variant (intron variant)	PLOD3-related disorder +1 more	GLikely benign
Select item 618838	NM_001084.5(PLOD3):c.1466C>T (p.Pro489Leu)	PLOD3 (P489L)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2159445	NM_001084.5(PLOD3):c.1354C>T (p.Arg452Ter)	PLOD3 (R452*)	Single nucleotide variant (nonsense)	Bone fragility with contractures, arterial rupture, and deafness +2 more	GPathogenic
Select item 756066	NM_001084.5(PLOD3):c.1176C>T (p.Asp392=)	PLOD3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2988398	NM_001084.5(PLOD3):c.1127+8G>A	PLOD3	Single nucleotide variant (intron variant)	PLOD3-related disorder +1 more	GLikely benign
Select item 3046329	NM_001084.5(PLOD3):c.1108G>A (p.Glu370Lys)	PLOD3 (E370K)	Single nucleotide variant (missense variant)	PLOD3-related disorder	GUncertain significance
Select item 2163905	NM_001084.5(PLOD3):c.903C>T (p.Ala301=)	PLOD3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 786550	NM_001084.5(PLOD3):c.535A>G (p.Ile179Val)	PLOD3 (I179V)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1899646	NM_001084.5(PLOD3):c.498T>C (p.Ser166=)	PLOD3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 733944	NM_001084.5(PLOD3):c.477G>A (p.Thr159=)	PLOD3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1942002	NM_001084.5(PLOD3):c.338+5C>G	PLOD3	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2160020	NM_001084.5(PLOD3):c.81G>A (p.Arg27=)	PLOD3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign