"Genome Diagnostics Laboratory, The Hospital for Sick Children"[submit - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 785068	NM_182943.3(PLOD2):c.2229T>C (p.Pro743=)	PLOD2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 900155	NM_182943.3(PLOD2):c.2110G>A (p.Glu704Lys)	PLOD2 (E683K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GUncertain significance
Select item 712702	NM_182943.3(PLOD2):c.2106G>C (p.Val702=)	PLOD2	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta +2 more	GBenign/Likely benign
Select item 343645	NM_182943.3(PLOD2):c.1732A>G (p.Ile578Val)	PLOD2 (I557V +1 more)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta +2 more	GConflicting classifications of pathogenicity
Select item 708661	NM_182943.3(PLOD2):c.1647T>C (p.Asn549=)	PLOD2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 1702041	NM_182943.3(PLOD2):c.1450C>T (p.Arg484Cys)	PLOD2 (R484C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1702040	NM_182943.3(PLOD2):c.1418G>A (p.Arg473Gln)	PLOD2 (R473Q)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta	GUncertain significance
Select item 708662	NM_182943.3(PLOD2):c.1171G>C (p.Val391Leu)	PLOD2 (V391L)	Single nucleotide variant (missense variant)	Bruck syndrome 2 +2 more	GBenign/Likely benign
Select item 1343760	NM_182943.3(PLOD2):c.1128G>A (p.Met376Ile)	PLOD2 (M376I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1702043	NM_182943.3(PLOD2):c.898A>G (p.Ile300Val)	PLOD2 (I300V)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta +1 more	GUncertain significance
Select item 716447	NM_182943.3(PLOD2):c.805G>A (p.Val269Ile)	PLOD2 (V269I)	Single nucleotide variant (missense variant)	Bruck syndrome 2 +2 more	GBenign/Likely benign
Select item 281238	NM_182943.3(PLOD2):c.652A>G (p.Ile218Val)	PLOD2 (I218V)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 493376	NM_182943.3(PLOD2):c.587C>T (p.Thr196Ile)	PLOD2 (T196I)	Single nucleotide variant (missense variant)	Bruck syndrome 2 +3 more	GUncertain significance
Select item 1422099	NM_182943.3(PLOD2):c.475A>T (p.Ile159Phe)	LOC129389144, PLOD2 (I159F)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta +2 more	GUncertain significance
Select item 343651	NM_182943.3(PLOD2):c.382A>G (p.Lys128Glu)	LOC129389144, PLOD2 (K128E)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta +2 more	GUncertain significance
Select item 343652	NM_182943.3(PLOD2):c.306T>A (p.Asp102Glu)	PLOD2 (D102E)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta +3 more	GUncertain significance
Select item 1702042	NM_182943.3(PLOD2):c.153A>G (p.Gly51=)	PLOD2	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta	GUncertain significance