Related gene-specific medical variations for Gene (Select 5352) - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065709	NM_182943.3(PLOD2):c.484C>T (p.Arg162Cys)	LOC129389144, PLOD2 (R162C)	Single nucleotide variant (missense variant)	Bruck syndrome 2	GUncertain significance
Select item 3065125	NM_182943.3(PLOD2):c.1848+1G>T	PLOD2	Single nucleotide variant (splice donor variant)	Bruck syndrome 2	GLikely pathogenic
Select item 2435087	NM_182943.3(PLOD2):c.2143A>G (p.Arg715Gly)	PLOD2 (R694G +1 more)	Single nucleotide variant (missense variant)	Bruck syndrome 2	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 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 2158682	NM_182943.3(PLOD2):c.364C>T (p.Pro122Ser)	LOC129389144, PLOD2 (P122S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2125270	NM_182943.3(PLOD2):c.364C>G (p.Pro122Ala)	LOC129389144, PLOD2 (P122A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2119884	NM_182943.3(PLOD2):c.462T>G (p.Tyr154Ter)	LOC129389144, PLOD2 (Y154*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1997690	NM_182943.3(PLOD2):c.468T>G (p.Val156=)	LOC129389144, PLOD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1928457	NM_182943.3(PLOD2):c.483A>G (p.Lys161=)	LOC129389144, PLOD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1924911	NM_182943.3(PLOD2):c.485G>A (p.Arg162His)	LOC129389144, PLOD2 (R162H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1715008	NM_182943.3(PLOD2):c.393G>T (p.Lys131Asn)	LOC129389144, PLOD2 (K131N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1553327	NM_182943.3(PLOD2):c.492G>C (p.Leu164=)	LOC129389144, PLOD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1485603	NM_182943.3(PLOD2):c.394G>A (p.Ala132Thr)	LOC129389144, PLOD2 (A132T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1428867	NM_182943.3(PLOD2):c.383A>T (p.Lys128Ile)	LOC129389144, PLOD2 (K128I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1422099	NM_182943.3(PLOD2):c.475A>T (p.Ile159Phe)	LOC129389144, PLOD2 (I159F)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1343759	NM_182943.3(PLOD2):c.437C>G (p.Pro146Arg)	LOC129389144, PLOD2 (P146R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1330599	NM_182943.3(PLOD2):c.2104G>T (p.Val702Leu)	PLOD2 (V681L +1 more)	Single nucleotide variant (missense variant)	Bruck syndrome 2	GUncertain significance
Select item 1323472	NM_182943.3(PLOD2):c.67del (p.Cys23fs)	PLOD2 (C23fs)	Deletion (frameshift variant)	Bruck syndrome 2	GPathogenic
Select item 1311315	NM_182943.3(PLOD2):c.439G>C (p.Asp147His)	LOC129389144, PLOD2 (D147H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1213330	NM_182943.3(PLOD2):c.502+24G>A	LOC129389144, PLOD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 988517	NM_182943.3(PLOD2):c.497C>G (p.Ser166Ter)	PLOD2, LOC129389144 (S166*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 930725	NM_182943.3(PLOD2):c.351dup (p.Phe118fs)	LOC129389144, PLOD2 (F118fs)	Duplication (frameshift variant)	Bruck syndrome 2	GLikely pathogenic
Select item 731166	NM_182943.3(PLOD2):c.465T>G (p.Pro155=)	LOC129389144, PLOD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 562825	GRCh37/hg19 3q24(chr3:145738142-145863739)x1	PLOD2	Copy number loss	not provided	GUncertain significance
Select item 562824	GRCh37/hg19 3q24(chr3:143757050-145815734)x3	PLOD2	Copy number gain	not provided	GUncertain significance
Select item 442953	GRCh37/hg19 3q24(chr3:143756186-145809824)x3	PLOD2	Copy number gain	See cases	GUncertain significance
Select item 343651	NM_182943.3(PLOD2):c.382A>G (p.Lys128Glu)	LOC129389144, PLOD2 (K128E)	Single nucleotide variant (missense variant)	Bruck syndrome 2 +2 more	GUncertain significance
Select item 343650	NM_182943.3(PLOD2):c.471G>A (p.Val157=)	LOC129389144, PLOD2	Single nucleotide variant (synonymous variant)	Bruck syndrome 2 +1 more	GConflicting classifications of pathogenicity

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Links from Gene

Items: 29