PLOD3[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC123956257, LOC123956258 +2213 more	Copy number gain	See cases	GPathogenic
Select item 59713	GRCh38/hg38 7q21.3-22.1(chr7:98288474-101259804)x3	ACHE, ACTL6B +300 more	Copy number gain	See cases	GPathogenic
Select item 146501	GRCh38/hg38 7q22.1(chr7:99195836-102258175)x1	ACHE, ACTL6B +310 more	Copy number loss	See cases	GPathogenic
Select item 149050	GRCh38/hg38 7q22.1(chr7:99932610-102473188)x3	ACHE, ACTL6B +283 more	Copy number gain	See cases	GUncertain significance
Select item 60281	GRCh38/hg38 7q22.1(chr7:100419914-102482826)x1	ACHE, ACTL6B +207 more	Copy number loss	See cases	GPathogenic
Select item 147676	GRCh38/hg38 7q22.1(chr7:101130561-101255628)x3	AP1S1, CLDN15 +23 more	Copy number gain	See cases	GBenign
Select item 2663318	NM_001084.5(PLOD3):c.*118G>A	PLOD3	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 2663317	NM_001084.5(PLOD3):c.*109T>G	PLOD3	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1378071	NM_001084.5(PLOD3):c.2209G>A (p.Asp737Asn)	PLOD3 (D737N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3215357	NM_001084.5(PLOD3):c.2201C>T (p.Ser734Phe)	PLOD3 (S734F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 618836	NM_001084.5(PLOD3):c.2200T>A (p.Ser734Thr)	PLOD3 (S734T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1915353	NM_001084.5(PLOD3):c.2186G>A (p.Arg729His)	PLOD3 (R729H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1603690	NM_001084.5(PLOD3):c.2184A>G (p.Thr728=)	PLOD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3215356	NM_001084.5(PLOD3):c.2183C>T (p.Thr728Ile)	PLOD3 (T728I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 768190	NM_001084.5(PLOD3):c.2172G>C (p.Thr724=)	PLOD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 440180	NM_001084.5(PLOD3):c.2171C>T (p.Thr724Met)	PLOD3 (T724M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2996637	NM_001084.5(PLOD3):c.2164C>T (p.Leu722=)	PLOD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2977995	NM_001084.5(PLOD3):c.2163G>A (p.Gly721=)	PLOD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1961754	NM_001084.5(PLOD3):c.2163G>T (p.Gly721=)	PLOD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1512178	NM_001084.5(PLOD3):c.2163del (p.Leu722fs)	PLOD3 (L722fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2833272	NM_001084.5(PLOD3):c.2157C>A (p.His719Gln)	PLOD3 (H719Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1622456	NM_001084.5(PLOD3):c.2157C>T (p.His719=)	PLOD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2991266	NM_001084.5(PLOD3):c.2154C>T (p.Tyr718=)	PLOD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1478330	NM_001084.5(PLOD3):c.2151C>T (p.His717=)	PLOD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2218327	NM_001084.5(PLOD3):c.2141G>A (p.Arg714His)	PLOD3 (R714H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 547021	NM_001084.5(PLOD3):c.2137G>A (p.Gly713Ser)	PLOD3 (G713S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1563466	NM_001084.5(PLOD3):c.2136C>T (p.Pro712=)	PLOD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3003518	NM_001084.5(PLOD3):c.2127C>T (p.Leu709=)	PLOD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 747482	NM_001084.5(PLOD3):c.2124A>G (p.Ala708=)	PLOD3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1431274	NM_001084.5(PLOD3):c.2113A>G (p.Lys705Glu)	PLOD3 (K705E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2955139	NM_001084.5(PLOD3):c.2109G>A (p.Pro703=)	PLOD3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1512440	NM_001084.5(PLOD3):c.2109G>C (p.Pro703=)	PLOD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2575824	NM_001084.5(PLOD3):c.2096_2097del (p.Val699fs)	PLOD3 (V699fs)	Microsatellite (frameshift variant)	not provided	GUncertain significance
Select item 1404197	NM_001084.5(PLOD3):c.2089G>A (p.Asp697Asn)	PLOD3 (D697N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1528599	NM_001084.5(PLOD3):c.2088C>T (p.Tyr696=)	PLOD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1516317	NM_001084.5(PLOD3):c.2084G>A (p.Arg695His)	PLOD3 (R695H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1370784	NM_001084.5(PLOD3):c.2083C>T (p.Arg695Cys)	PLOD3 (R695C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2188081	NM_001084.5(PLOD3):c.2074C>T (p.Arg692Cys)	PLOD3 (R692C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 6644	NM_001084.5(PLOD3):c.2071del (p.Cys691fs)	PLOD3 (C691fs)	Deletion (frameshift variant)	Bone fragility with contractures, arterial rupture, and deafness	GPathogenic
Select item 2066382	NM_001084.5(PLOD3):c.2062-5T>A	PLOD3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1907426	NM_001084.5(PLOD3):c.2062-19C>T	PLOD3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1235165	NM_001084.5(PLOD3):c.2062-87C>T	PLOD3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245744	NM_001084.5(PLOD3):c.2061+50G>T	PLOD3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1585792	NM_001084.5(PLOD3):c.2061+14AC[3]	PLOD3	Microsatellite (intron variant)	not provided	GBenign
Select item 1286270	NM_001084.5(PLOD3):c.2061+12T>C	PLOD3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2702300	NM_001084.5(PLOD3):c.2061+8C>G	PLOD3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1535145	NM_001084.5(PLOD3):c.2061+7C>A	PLOD3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1436712	NM_001084.5(PLOD3):c.2061+5G>A	PLOD3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1686083	NM_001084.5(PLOD3):c.2061+1G>A	PLOD3	Single nucleotide variant (splice donor variant)	Bone fragility with contractures, arterial rupture, and deafness	GPathogenic
Select item 2228137	NM_001084.5(PLOD3):c.2054A>G (p.Asp685Gly)	PLOD3 (D685G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2254699	NM_001084.5(PLOD3):c.2047G>A (p.Gly683Ser)	PLOD3 (G683S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1444112	NM_001084.5(PLOD3):c.2039A>G (p.Asn680Ser)	PLOD3 (N680S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1983786	NM_001084.5(PLOD3):c.2029G>A (p.Val677Ile)	PLOD3 (V677I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1504070	NM_001084.5(PLOD3):c.2028C>T (p.Asn676=)	PLOD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2994849	NM_001084.5(PLOD3):c.2025C>T (p.Leu675=)	PLOD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2163152	NM_001084.5(PLOD3):c.1999CAC[1] (p.His668del)	PLOD3 (H668del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 734968	NM_001084.5(PLOD3):c.2004C>T (p.His668=)	PLOD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2066304	NM_001084.5(PLOD3):c.1982_1996dup (p.Arg665_Pro666insGlnProSerLeuArg)	PLOD3	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 425422	NM_001084.5(PLOD3):c.1993C>T (p.Arg665Trp)	PLOD3 (R665W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2979508	NM_001084.5(PLOD3):c.1992G>A (p.Leu664=)	PLOD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1366035	NM_001084.5(PLOD3):c.1990_1991del (p.Leu664fs)	PLOD3 (L664fs)	Microsatellite (frameshift variant)	not provided	GUncertain significance
Select item 1645583	NM_001084.5(PLOD3):c.1990C>T (p.Leu664=)	PLOD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1345123	NM_001084.5(PLOD3):c.1988C>G (p.Ser663Cys)	PLOD3 (S663C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 717332	NM_001084.5(PLOD3):c.1986G>A (p.Pro662=)	PLOD3	Single nucleotide variant (synonymous variant)	Bone fragility with contractures, arterial rupture, and deafness +1 more	GBenign
Select item 1914353	NM_001084.5(PLOD3):c.1985C>T (p.Pro662Leu)	PLOD3 (P662L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1380827	NM_001084.5(PLOD3):c.1985C>A (p.Pro662Gln)	PLOD3 (P662Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 440171	NM_001084.5(PLOD3):c.1977C>T (p.Asp659=)	PLOD3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1970364	NM_001084.5(PLOD3):c.1969C>T (p.Arg657Trp)	PLOD3 (R657W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2068035	NM_001084.5(PLOD3):c.1966T>C (p.Tyr656His)	PLOD3 (Y656H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1371197	NM_001084.5(PLOD3):c.1964G>A (p.Arg655His)	PLOD3 (R655H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1574871	NM_001084.5(PLOD3):c.1944G>A (p.Ala648=)	PLOD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1405549	NM_001084.5(PLOD3):c.1943C>T (p.Ala648Val)	PLOD3 (A648V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2175352	NM_001084.5(PLOD3):c.1940G>A (p.Arg647Gln)	PLOD3 (R647Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 624294	NM_001084.5(PLOD3):c.1939C>T (p.Arg647Trp)	PLOD3 (R647W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1933392	NM_001084.5(PLOD3):c.1938G>A (p.Ala646=)	PLOD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1507395	NM_001084.5(PLOD3):c.1937C>T (p.Ala646Val)	PLOD3 (A646V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2166155	NM_001084.5(PLOD3):c.1936-3C>T	PLOD3	Single nucleotide variant (intron variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2228174	NM_001084.5(PLOD3):c.1936-5C>G	PLOD3	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 1990500	NM_001084.5(PLOD3):c.1936-7C>T	PLOD3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2875612	NM_001084.5(PLOD3):c.1936-15C>T	PLOD3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1288531	NM_001084.5(PLOD3):c.1935+200T>C	PLOD3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 440181	NM_001084.5(PLOD3):c.1935+105T>G	PLOD3	Single nucleotide variant (intron variant)	Bone fragility with contractures, arterial rupture, and deafness	GLikely benign
Select item 1273031	NM_001084.5(PLOD3):c.1935+51G>A	PLOD3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2067833	NM_001084.5(PLOD3):c.1935+17C>T	PLOD3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1926007	NM_001084.5(PLOD3):c.1935+13C>T	PLOD3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2816464	NM_001084.5(PLOD3):c.1935+12A>G	PLOD3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2092616	NM_001084.5(PLOD3):c.1935+11C>T	PLOD3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2075391	NM_001084.5(PLOD3):c.1935+4_1935+7dup	PLOD3	Duplication (intron variant)	not provided	GLikely benign
Select item 1410502	NM_001084.5(PLOD3):c.1935+4C>T	PLOD3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1939669	NM_001084.5(PLOD3):c.1935+1G>A	PLOD3	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 1359170	NM_001084.5(PLOD3):c.1921G>A (p.Gly641Ser)	PLOD3 (G641S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3001010	NM_001084.5(PLOD3):c.1920C>T (p.Pro640=)	PLOD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1944151	NM_001084.5(PLOD3):c.1919C>T (p.Pro640Leu)	PLOD3 (P640L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3020723	NM_001084.5(PLOD3):c.1912C>T (p.Leu638=)	PLOD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1356172	NM_001084.5(PLOD3):c.1910G>T (p.Ser637Ile)	PLOD3 (S637I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2421874	NM_001084.5(PLOD3):c.1906G>A (p.Glu636Lys)	PLOD3 (E636K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 732293	NM_001084.5(PLOD3):c.1904C>T (p.Thr635Ile)	PLOD3 (T635I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2456008	NM_001084.5(PLOD3):c.1900A>G (p.Met634Val)	PLOD3 (M634V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1970915	NM_001084.5(PLOD3):c.1894G>A (p.Gly632Ser)	PLOD3 (G632S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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