"Ambry Genetics"[submitter] AND "PLOD2"[gene] - ClinVar

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Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1413037	NM_182943.3(PLOD2):c.2158A>G (p.Ile720Val)	PLOD2 (I699V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
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 2262953	NM_182943.3(PLOD2):c.2074A>G (p.Thr692Ala)	PLOD2 (T671A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2486340	NM_182943.3(PLOD2):c.1981G>A (p.Gly661Ser)	PLOD2 (G640S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3215349	NM_182943.3(PLOD2):c.1955C>T (p.Ala652Val)	PLOD2 (A652V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3215348	NM_182943.3(PLOD2):c.1868G>C (p.Gly623Ala)	PLOD2 (G623A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2612568	NM_182943.3(PLOD2):c.1493G>T (p.Arg498Ile)	PLOD2 (R498I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2538004	NM_182943.3(PLOD2):c.1484G>A (p.Arg495Gln)	PLOD2 (R495Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2469520	NM_182943.3(PLOD2):c.1447G>A (p.Val483Ile)	PLOD2 (V483I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3215346	NM_182943.3(PLOD2):c.1230C>A (p.Asn410Lys)	PLOD2 (N410K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 1377183	NM_182943.3(PLOD2):c.1120A>G (p.Met374Val)	PLOD2 (M374V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 512915	NM_182943.3(PLOD2):c.1108G>A (p.Glu370Lys)	PLOD2 (E370K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 3215345	NM_182943.3(PLOD2):c.1076T>G (p.Ile359Arg)	PLOD2 (I359R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2333783	NM_182943.3(PLOD2):c.1009G>A (p.Val337Ile)	PLOD2 (V337I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2068184	NM_182943.3(PLOD2):c.947A>G (p.Asp316Gly)	PLOD2 (D316G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3215351	NM_182943.3(PLOD2):c.917A>G (p.Gln306Arg)	PLOD2 (Q306R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2273381	NM_182943.3(PLOD2):c.892G>C (p.Val298Leu)	PLOD2 (V298L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1348397	NM_182943.3(PLOD2):c.892G>A (p.Val298Ile)	PLOD2 (V298I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3307811	NM_182943.3(PLOD2):c.883C>T (p.His295Tyr)	PLOD2 (H295Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
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 2553047	NM_182943.3(PLOD2):c.809C>T (p.Pro270Leu)	PLOD2 (P270L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3307809	NM_182943.3(PLOD2):c.808C>T (p.Pro270Ser)	PLOD2 (P270S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1427843	NM_182943.3(PLOD2):c.754A>G (p.Ile252Val)	PLOD2 (I252V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2604250	NM_182943.3(PLOD2):c.691T>G (p.Leu231Val)	PLOD2 (L231V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3215350	NM_182943.3(PLOD2):c.611A>C (p.Lys204Thr)	PLOD2 (K204T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2609605	NM_182943.3(PLOD2):c.547T>C (p.Trp183Arg)	PLOD2 (W183R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2244302	NM_182943.3(PLOD2):c.437C>A (p.Pro146Gln)	LOC129389144, PLOD2 (P146Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3307810	NM_182943.3(PLOD2):c.421G>T (p.Asp141Tyr)	LOC129389144, PLOD2 (D141Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2323589	NM_182943.3(PLOD2):c.406G>C (p.Val136Leu)	LOC129389144, PLOD2 (V136L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 902770	NM_182943.3(PLOD2):c.335A>G (p.Glu112Gly)	PLOD2 (E112G)	Single nucleotide variant (missense variant)	not provided +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 1405859	NM_182943.3(PLOD2):c.291G>A (p.Met97Ile)	PLOD2 (M97I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1462928	NM_182943.3(PLOD2):c.230G>A (p.Gly77Asp)	PLOD2 (G77D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2550239	NM_182943.3(PLOD2):c.205C>T (p.Leu69Phe)	PLOD2 (L69F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2480257	NM_182943.3(PLOD2):c.103C>G (p.Pro35Ala)	PLOD2 (P35A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2280535	NM_182943.3(PLOD2):c.53A>C (p.His18Pro)	PLOD2 (H18P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2511855	NM_182943.3(PLOD2):c.4G>T (p.Gly2Trp)	PLOD2 (G2W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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Items: 40