PLOD2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC129937268, LOC129937269 +2645 more	Copy number gain	See cases	GPathogenic
Select item 149077	GRCh38/hg38 3q22.2-25.1(chr3:134257180-149729538)x1	LOC129937630, LOC129937631 +320 more	Copy number loss	See cases	GPathogenic
Select item 57835	GRCh38/hg38 3q23-24(chr3:141751960-148246189)x1	ATP1B3, ATR +107 more	Copy number loss	See cases	GPathogenic
Select item 146560	GRCh38/hg38 3q23-24(chr3:142780798-146233927)x1	CHST2, DIPK2A +49 more	Copy number loss	See cases	GUncertain significance
Select item 57836	GRCh38/hg38 3q24(chr3:144319831-146552546)x1	LNCSRLR, LOC123192011 +16 more	Copy number loss	See cases	GPathogenic
Select item 148910	GRCh38/hg38 3q24(chr3:145036887-146346332)x3	LNCSRLR, LOC123192011 +7 more	Copy number gain	See cases	GUncertain significance
Select item 152476	GRCh38/hg38 3q24(chr3:146051251-146159728)x1	LNCSRLR, LOC129389144 +1 more	Copy number loss	See cases	GLikely benign
Select item 343633	NM_182943.3(PLOD2):c.*1211C>T	PLOD2	Single nucleotide variant (3 prime UTR variant)	Bruck syndrome 2	GUncertain significance
Select item 901258	NM_182943.3(PLOD2):c.*1169T>C	PLOD2	Single nucleotide variant (3 prime UTR variant)	Bruck syndrome 2	GUncertain significance
Select item 343634	NM_182943.3(PLOD2):c.*1157T>C	PLOD2	Single nucleotide variant (3 prime UTR variant)	Bruck syndrome 2	GUncertain significance
Select item 901259	NM_182943.3(PLOD2):c.*1049G>T	PLOD2	Single nucleotide variant (3 prime UTR variant)	Bruck syndrome 2	GUncertain significance
Select item 901260	NM_182943.3(PLOD2):c.*1034A>C	PLOD2	Single nucleotide variant (3 prime UTR variant)	Bruck syndrome 2	GUncertain significance
Select item 901261	NM_182943.3(PLOD2):c.*930A>C	PLOD2	Single nucleotide variant (3 prime UTR variant)	Bruck syndrome 2	GUncertain significance
Select item 901262	NM_182943.3(PLOD2):c.*848G>A	PLOD2	Single nucleotide variant (3 prime UTR variant)	Bruck syndrome 2	GLikely benign
Select item 343635	NM_182943.3(PLOD2):c.*847C>T	PLOD2	Single nucleotide variant (3 prime UTR variant)	Bruck syndrome 2	GBenign
Select item 343636	NM_182943.3(PLOD2):c.*809T>C	PLOD2	Single nucleotide variant (3 prime UTR variant)	Bruck syndrome 2	GUncertain significance
Select item 343637	NM_182943.3(PLOD2):c.*764A>G	PLOD2	Single nucleotide variant (3 prime UTR variant)	Bruck syndrome 2	GBenign
Select item 901797	NM_182943.3(PLOD2):c.*759T>C	PLOD2	Single nucleotide variant (3 prime UTR variant)	Bruck syndrome 2	GUncertain significance
Select item 901798	NM_182943.3(PLOD2):c.*742A>G	PLOD2	Single nucleotide variant (3 prime UTR variant)	Bruck syndrome 2	GUncertain significance
Select item 343638	NM_182943.3(PLOD2):c.*683C>T	PLOD2	Single nucleotide variant (3 prime UTR variant)	Bruck syndrome 2	GUncertain significance
Select item 901799	NM_182943.3(PLOD2):c.*673A>T	PLOD2	Single nucleotide variant (3 prime UTR variant)	Bruck syndrome 2	GUncertain significance
Select item 343639	NM_182943.3(PLOD2):c.*587G>A	PLOD2	Single nucleotide variant (3 prime UTR variant)	Bruck syndrome 2	GUncertain significance
Select item 901800	NM_182943.3(PLOD2):c.*501C>T	PLOD2	Single nucleotide variant (3 prime UTR variant)	Bruck syndrome 2	GUncertain significance
Select item 901801	NM_182943.3(PLOD2):c.*418A>T	PLOD2	Single nucleotide variant (3 prime UTR variant)	Bruck syndrome 2	GUncertain significance
Select item 343640	NM_182943.3(PLOD2):c.*292C>T	PLOD2	Single nucleotide variant (3 prime UTR variant)	Bruck syndrome 2	GUncertain significance
Select item 343641	NM_182943.3(PLOD2):c.*171T>G	PLOD2	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 343642	NM_182943.3(PLOD2):c.*148T>C	PLOD2	Single nucleotide variant (3 prime UTR variant)	Bruck syndrome 2	GUncertain significance
Select item 902704	NM_182943.3(PLOD2):c.*63T>G	PLOD2	Single nucleotide variant (3 prime UTR variant)	Bruck syndrome 2	GUncertain significance
Select item 343643	NM_182943.3(PLOD2):c.*37A>G	PLOD2	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 902705	NM_182943.3(PLOD2):c.*32T>C	PLOD2	Single nucleotide variant (3 prime UTR variant)	Bruck syndrome 2 +1 more	GBenign/Likely benign
Select item 902706	NM_182943.3(PLOD2):c.*25A>C	PLOD2	Single nucleotide variant (3 prime UTR variant)	Bruck syndrome 2	GUncertain significance
Select item 981531	NM_182943.3(PLOD2):c.2270A>T (p.Asp757Val)	PLOD2 (D736V +1 more)	Single nucleotide variant (missense variant)	Bruck syndrome 2	GUncertain significance
Select item 1945640	NM_182943.3(PLOD2):c.2268A>G (p.Ile756Met)	PLOD2 (I735M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1490639	NM_182943.3(PLOD2):c.2246G>T (p.Arg749Ile)	PLOD2 (R749I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2074404	NM_182943.3(PLOD2):c.2224C>G (p.Leu742Val)	PLOD2 (L721V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1956364	NM_182943.3(PLOD2):c.2222G>A (p.Gly741Glu)	PLOD2 (G720E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2445866	NM_182943.3(PLOD2):c.2170C>T (p.Arg724Ter)	PLOD2 (R703* +1 more)	Single nucleotide variant (nonsense)	not specified	GUncertain significance
Select item 1413037	NM_182943.3(PLOD2):c.2158A>G (p.Ile720Val)	PLOD2 (I699V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 1462736	NM_182943.3(PLOD2):c.2135A>G (p.Lys712Arg)	PLOD2 (K712R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2091466	NM_182943.3(PLOD2):c.2127T>C (p.Gly709=)	PLOD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2576839	NM_182943.3(PLOD2):c.2122-2A>G	PLOD2	Single nucleotide variant (splice acceptor variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2981227	NM_182943.3(PLOD2):c.2122-3del	PLOD2	Deletion (intron variant)	not provided	GBenign
Select item 2828764	NM_182943.3(PLOD2):c.2122-4_2122-3del	PLOD2	Deletion (intron variant)	not provided	GLikely benign
Select item 2581591	NM_182943.3(PLOD2):c.2122-8T>A	PLOD2	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 674931	NM_182943.3(PLOD2):c.2121+26A>G	PLOD2	Single nucleotide variant (intron variant)	Bruck syndrome 2 +1 more	GBenign
Select item 343644	NM_182943.3(PLOD2):c.2121+14T>C	PLOD2	Single nucleotide variant (intron variant)	Bruck syndrome 2 +1 more	GConflicting classifications of pathogenicity
Select item 1571752	NM_182943.3(PLOD2):c.2121+9G>C	PLOD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 900155	NM_182943.3(PLOD2):c.2110G>A (p.Glu704Lys)	PLOD2 (E683K +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 712702	NM_182943.3(PLOD2):c.2106G>C (p.Val702=)	PLOD2	Single nucleotide variant (synonymous variant)	Bruck syndrome 2 +2 more	GBenign/Likely benign
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 900156	NM_182943.3(PLOD2):c.2103C>T (p.Asn701=)	PLOD2	Single nucleotide variant (synonymous variant)	Bruck syndrome 2 +1 more	GConflicting classifications of pathogenicity
Select item 1983469	NM_182943.3(PLOD2):c.2094A>C (p.Ala698=)	PLOD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 988314	NM_182943.3(PLOD2):c.2060A>G (p.His687Arg)	PLOD2 (H666R +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1399121	NM_182943.3(PLOD2):c.2054G>A (p.Arg685His)	PLOD2 (R664H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2167599	NM_182943.3(PLOD2):c.2039G>A (p.Arg680Gln)	PLOD2 (R680Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 374012	NM_182943.3(PLOD2):c.2038C>T (p.Arg680Ter)	PLOD2 (R659* +1 more)	Single nucleotide variant (nonsense)	Femoral bowing +10 more	GPathogenic/Likely pathogenic
Select item 513842	NM_182943.3(PLOD2):c.2022A>T (p.Val674=)	PLOD2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1950652	NM_182943.3(PLOD2):c.1996-5T>G	PLOD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 744179	NM_182943.3(PLOD2):c.1996-8T>A	PLOD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2881134	NM_182943.3(PLOD2):c.1996-9C>A	PLOD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2957823	NM_182943.3(PLOD2):c.1996-18C>T	PLOD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1634650	NM_182943.3(PLOD2):c.1996-19G>A	PLOD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1669246	NM_182943.3(PLOD2):c.1995+19C>G	PLOD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 900157	NM_182943.3(PLOD2):c.1995G>A (p.Lys665=)	PLOD2	Single nucleotide variant (synonymous variant)	Bruck syndrome 2	GUncertain significance
Select item 1366020	NM_182943.3(PLOD2):c.1982G>A (p.Gly661Asp)	PLOD2 (G661D +1 more)	Single nucleotide variant (missense variant)	not provided	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 1705607	NM_182943.3(PLOD2):c.1958C>G (p.Pro653Arg)	PLOD2 (P632R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 391826	NM_182943.3(PLOD2):c.1949T>C (p.Phe650Ser)	PLOD2 (F629S +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1376721	NM_182943.3(PLOD2):c.1943G>A (p.Arg648Gln)	PLOD2 (R627Q +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 900158	NM_182943.3(PLOD2):c.1942C>T (p.Arg648Trp)	PLOD2 (R627W +1 more)	Single nucleotide variant (missense variant)	Bruck syndrome 2 +2 more	GUncertain significance
Select item 2154014	NM_182943.3(PLOD2):c.1940T>C (p.Ile647Thr)	PLOD2 (I626T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1995807	NM_182943.3(PLOD2):c.1899C>G (p.His633Gln)	PLOD2 (H612Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 745886	NM_182943.3(PLOD2):c.1893T>C (p.Asp631=)	PLOD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 7641	NM_182943.3(PLOD2):c.1886C>T (p.Thr629Ile)	PLOD2 (T608I +1 more)	Single nucleotide variant (missense variant)	Bruck syndrome 2	GPathogenic
Select item 2581069	NM_182943.3(PLOD2):c.1872T>G (p.Tyr624Ter)	PLOD2 (Y603* +1 more)	Single nucleotide variant (nonsense)	Bruck syndrome 2	GLikely pathogenic
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 7642	NM_182943.3(PLOD2):c.1865G>T (p.Gly622Val)	PLOD2 (G601V +1 more)	Single nucleotide variant (missense variant)	Bruck syndrome 2	GPathogenic
Select item 1479469	NM_182943.3(PLOD2):c.1864G>T (p.Gly622Cys)	PLOD2 (G601C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 7643	NM_182943.3(PLOD2):c.1856G>A (p.Arg619His)	PLOD2 (R598H +1 more)	Single nucleotide variant (missense variant)	Bruck syndrome 2	GConflicting classifications of pathogenicity
Select item 1710617	NM_182943.3(PLOD2):c.1855C>G (p.Arg619Gly)	PLOD2 (R598G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1312042	NM_182943.3(PLOD2):c.1855C>T (p.Arg619Cys)	PLOD2 (R598C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3012093	NM_182943.3(PLOD2):c.1854C>T (p.Ser618=)	PLOD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1920570	NM_182943.3(PLOD2):c.1849-18C>T	PLOD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1183577	NM_182943.3(PLOD2):c.1848+302G>A	PLOD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231516	NM_182943.3(PLOD2):c.1848+284_1848+285del	PLOD2	Deletion (intron variant)	not provided	GBenign
Select item 1215183	NM_182943.3(PLOD2):c.1848+162del	PLOD2	Deletion (intron variant)	not provided	GLikely benign
Select item 1290992	NM_182943.3(PLOD2):c.1848+56T>C	PLOD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1547605	NM_182943.3(PLOD2):c.1848+12T>C	PLOD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1484974	NM_182943.3(PLOD2):c.1848T>C (p.His616=)	PLOD2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2080315	NM_182943.3(PLOD2):c.1842A>T (p.Lys614Asn)	PLOD2 (K593N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1921978	NM_182943.3(PLOD2):c.1834G>C (p.Gly612Arg)	PLOD2 (G591R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1565642	NM_182943.3(PLOD2):c.1833T>C (p.Ser611=)	PLOD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2012349	NM_182943.3(PLOD2):c.1813G>A (p.Glu605Lys)	PLOD2 (E584K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 734071	NM_182943.3(PLOD2):c.1798T>C (p.Leu600=)	PLOD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 988376	NM_182943.3(PLOD2):c.1764G>T (p.Trp588Cys)	PLOD2 (W567C +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic

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