"Eurofins Ntd Llc (ga)"[submitter] AND "PLOD2"[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 497279	NM_182943.3(PLOD2):c.1644C>T (p.Asn548=)	PLOD2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 194570	NM_182943.3(PLOD2):c.1639T>C (p.Tyr547His)	PLOD2 (Y526H +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 263073	NM_182943.3(PLOD2):c.1500+12A>G	PLOD2	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 499451	NM_182943.3(PLOD2):c.1042G>T (p.Asp348Tyr)	PLOD2 (D348Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 291041	NM_182943.3(PLOD2):c.934C>A (p.Pro312Thr)	PLOD2 (P312T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 291030	NM_182943.3(PLOD2):c.815C>T (p.Ser272Leu)	PLOD2 (S272L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 343649	NM_182943.3(PLOD2):c.533G>A (p.Arg178His)	PLOD2 (R178H)	Single nucleotide variant (missense variant)	Bruck syndrome 2 +1 more	GUncertain significance
Select item 263074	NM_182943.3(PLOD2):c.338+4G>A	PLOD2	Single nucleotide variant (intron variant)	Bruck syndrome 2 +2 more	GBenign
Select item 597594	NM_182943.3(PLOD2):c.6G>C (p.Gly2=)	PLOD2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 193511	NM_182943.3(PLOD2):c.-4G>A	PLOD2	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GLikely benign