ClinVar for MedGen (Select 382811) - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065547	NM_001084.5(PLOD3):c.1359-1G>C	PLOD3	Single nucleotide variant (splice acceptor variant)	Bone fragility with contractures, arterial rupture, and deafness	GLikely pathogenic
Select item 2435088	NM_001084.5(PLOD3):c.1381A>C (p.Ile461Leu)	PLOD3 (I461L)	Single nucleotide variant (missense variant)	Bone fragility with contractures, arterial rupture, and deafness	GUncertain significance
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 1804992	NM_001084.5(PLOD3):c.889C>G (p.Arg297Gly)	PLOD3 (R297G)	Single nucleotide variant (missense variant)	Bone fragility with contractures, arterial rupture, and deafness	GUncertain significance
Select item 1686083	NM_001084.5(PLOD3):c.2061+1G>A	PLOD3	Single nucleotide variant (splice donor variant)	Bone fragility with contractures, arterial rupture, and deafness	GPathogenic
Select item 1487783	NM_001084.5(PLOD3):c.976G>A (p.Asp326Asn)	PLOD3 (D326N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1382324	NM_001084.5(PLOD3):c.1448C>T (p.Ser483Leu)	PLOD3 (S483L)	Single nucleotide variant (missense variant)	Bone fragility with contractures, arterial rupture, and deafness +1 more	GUncertain significance
Select item 1204488	NM_001084.5(PLOD3):c.670G>C (p.Gly224Arg)	PLOD3 (G224R)	Single nucleotide variant (missense variant)	Bone fragility with contractures, arterial rupture, and deafness +1 more	GUncertain significance
Select item 1033684	NM_001084.5(PLOD3):c.700G>A (p.Asp234Asn)	PLOD3 (D234N)	Single nucleotide variant (missense variant)	Bone fragility with contractures, arterial rupture, and deafness	GUncertain significance
Select item 915354	NM_001084.5(PLOD3):c.1684C>T (p.Pro562Ser)	PLOD3 (P562S)	Single nucleotide variant (missense variant)	Bone fragility with contractures, arterial rupture, and deafness	GUncertain significance
Select item 771160	NM_001084.5(PLOD3):c.1797G>A (p.Arg599=)	PLOD3	Single nucleotide variant (synonymous variant)	Bone fragility with contractures, arterial rupture, and deafness +1 more	GBenign/Likely benign
Select item 717332	NM_001084.5(PLOD3):c.1986G>A (p.Pro662=)	PLOD3	Single nucleotide variant (synonymous variant)	Bone fragility with contractures, arterial rupture, and deafness +1 more	GBenign
Select item 624295	NM_001084.5(PLOD3):c.1678G>C (p.Glu560Gln)	PLOD3 (E560Q)	Single nucleotide variant (missense variant)	Bone fragility with contractures, arterial rupture, and deafness +1 more	GBenign/Likely benign
Select item 623469	NM_001084.5(PLOD3):c.809C>T (p.Pro270Leu)	PLOD3 (P270L)	Single nucleotide variant (missense variant)	Bone fragility with contractures, arterial rupture, and deafness	GLikely pathogenic
Select item 618838	NM_001084.5(PLOD3):c.1466C>T (p.Pro489Leu)	PLOD3 (P489L)	Single nucleotide variant (missense variant)	Bone fragility with contractures, arterial rupture, and deafness +2 more	GConflicting classifications of pathogenicity
Select item 618835	NM_001084.5(PLOD3):c.1402C>G (p.Arg468Gly)	PLOD3 (R468G)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 547022	NM_001084.5(PLOD3):c.887C>G (p.Pro296Arg)	PLOD3 (P296R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 440182	NM_001084.5(PLOD3):c.1144G>C (p.Asp382His)	PLOD3 (D382H)	Single nucleotide variant (missense variant)	Bone fragility with contractures, arterial rupture, and deafness +1 more	GBenign/Likely benign
Select item 440181	NM_001084.5(PLOD3):c.1935+105T>G	PLOD3	Single nucleotide variant (intron variant)	Bone fragility with contractures, arterial rupture, and deafness	GLikely benign
Select item 440177	NM_001084.5(PLOD3):c.1179C>T (p.Ala393=)	PLOD3	Single nucleotide variant (synonymous variant)	Bone fragility with contractures, arterial rupture, and deafness +1 more	GBenign
Select item 440176	NM_001084.5(PLOD3):c.1233-4G>A	PLOD3	Single nucleotide variant (intron variant)	Bone fragility with contractures, arterial rupture, and deafness +1 more	GBenign
Select item 440175	NM_001084.5(PLOD3):c.570C>T (p.Asp190=)	PLOD3	Single nucleotide variant (synonymous variant)	Bone fragility with contractures, arterial rupture, and deafness +1 more	GBenign
Select item 440171	NM_001084.5(PLOD3):c.1977C>T (p.Asp659=)	PLOD3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 225442	NM_001084.5(PLOD3):c.1890T>G (p.Tyr630Ter)	PLOD3 (Y630*)	Single nucleotide variant (nonsense)	Bone fragility with contractures, arterial rupture, and deafness	GLikely pathogenic
Select item 6644	NM_001084.5(PLOD3):c.2071del (p.Cys691fs)	PLOD3 (C691fs)	Deletion (frameshift variant)	Bone fragility with contractures, arterial rupture, and deafness	GPathogenic
Select item 6643	NM_001084.5(PLOD3):c.668A>G (p.Asn223Ser)	PLOD3 (N223S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 26