"GeneDx"[submitter] AND "LONP1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59082	GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3	LOC130063254, LOC130063255 +810 more	Copy number gain	See cases	GPathogenic
Select item 59085	GRCh38/hg38 19p13.3(chr19:4934885-6501642)x3	LOC130063249, LOC130063250 +124 more	Copy number gain	See cases	GPathogenic
Select item 1198795	NM_004793.4(LONP1):c.*110C>T	LONP1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1258867	NM_004793.4(LONP1):c.27_55dup	LOC130063267, LONP1	Duplication (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1495508	NM_004793.4(LONP1):c.2853G>C (p.Gln951His)	LONP1 (Q755H +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1166716	NM_004793.4(LONP1):c.2731G>A (p.Val911Ile)	LONP1 (V715I +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 757038	NM_004793.4(LONP1):c.2711G>A (p.Arg904His)	LONP1 (R840H +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 1292133	NM_004793.4(LONP1):c.2704-92C>G	LONP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1190500	NM_004793.4(LONP1):c.2704-159G>A	LONP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1224080	NM_004793.4(LONP1):c.2703+286A>G	LONP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1203123	NM_004793.4(LONP1):c.2703+210C>T	LONP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1200538	NM_004793.4(LONP1):c.2703+92C>G	LONP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 504444	NM_004793.4(LONP1):c.2590_2615del (p.Leu864fs)	LONP1 (L668fs +2 more)	Deletion (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 1723027	NM_004793.4(LONP1):c.2581G>A (p.Val861Ile)	LONP1 (V665I +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 714754	NM_004793.4(LONP1):c.2565C>T (p.Ser855=)	LONP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 1032940	NM_004793.4(LONP1):c.2542G>A (p.Ala848Thr)	LONP1 (A848T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1806777	NM_004793.4(LONP1):c.2486C>T (p.Ala829Val)	LONP1 (A633V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1258145	NM_004793.4(LONP1):c.2485G>A (p.Ala829Thr)	LONP1 (A633T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1261786	NM_004793.4(LONP1):c.2463C>T (p.Ala821=)	LONP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 679497	NM_004793.4(LONP1):c.2392G>A (p.Gly798Ser)	LONP1 (G798S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign/Likely benign
Select item 1225427	NM_004793.4(LONP1):c.2321-178A>T	LONP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1175608	NM_004793.4(LONP1):c.2320+167G>C	LONP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294396	NM_004793.4(LONP1):c.2320+49C>T	LONP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1448789	NM_004793.4(LONP1):c.2248G>A (p.Val750Met)	LONP1 (V686M +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1909408	NM_004793.4(LONP1):c.2236G>A (p.Val746Met)	LONP1 (V746M +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 1030840	NM_004793.4(LONP1):c.2203G>A (p.Val735Met)	LONP1 (V735M +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1380147	NM_004793.4(LONP1):c.2155G>T (p.Val719Leu)	LONP1 (V523L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1211057	NM_004793.4(LONP1):c.2155-56_2155-35del	LONP1	Deletion (intron variant)	not provided	GLikely benign
Select item 1261688	NM_004793.4(LONP1):c.2155-67G>A	LONP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1205754	NM_004793.4(LONP1):c.2154+101_2155-87dup	LONP1	Duplication (intron variant)	not provided	GLikely benign
Select item 1175472	NM_004793.4(LONP1):c.2154+97G>A	LONP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1368553	NM_004793.4(LONP1):c.2113C>T (p.Arg705Cys)	LONP1 (R705C +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1444820	NM_004793.4(LONP1):c.2083G>A (p.Val695Met)	LONP1 (V631M +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 500070	NM_004793.4(LONP1):c.2036G>A (p.Arg679His)	LONP1 (R679H +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 771211	NM_004793.4(LONP1):c.2023G>C (p.Val675Leu)	LONP1 (V479L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign/Likely benign
Select item 1198056	NM_004793.4(LONP1):c.2014-210T>C	LONP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1205340	NM_004793.4(LONP1):c.2013+320G>A	LONP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1317343	NM_004793.4(LONP1):c.2013+233C>T	LONP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1248733	NM_004793.4(LONP1):c.2013+118_2013+119insCGC	LONP1	Insertion (intron variant)	not provided	GBenign
Select item 680902	NM_004793.4(LONP1):c.2013+6C>T	LONP1	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 383570	NM_004793.4(LONP1):c.2008G>T (p.Ala670Ser)	LONP1 (A670S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 1166717	NM_004793.4(LONP1):c.1977G>A (p.Ser659=)	LONP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 676236	NM_004793.4(LONP1):c.1932C>T (p.Thr644=)	LONP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3367272	NM_004793.4(LONP1):c.1928A>C (p.Asp643Ala)	LONP1 (D447A +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1030839	NM_004793.4(LONP1):c.1925C>T (p.Thr642Met)	LONP1 (T642M +2 more)	Single nucleotide variant (missense variant +1 more)	CODAS syndrome +1 more	GConflicting classifications of pathogenicity
Select item 770653	NM_004793.4(LONP1):c.1921G>A (p.Val641Ile)	LONP1 (V577I +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign/Likely benign
Select item 1723641	NM_004793.4(LONP1):c.1909T>G (p.Cys637Gly)	LONP1 (C441G +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 386588	NM_004793.4(LONP1):c.1897-8G>A	LONP1	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 1442106	NM_004793.4(LONP1):c.1882G>A (p.Val628Met)	LONP1 (V628M +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 1219147	NM_004793.4(LONP1):c.1774-70T>C	LONP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1206503	NM_004793.4(LONP1):c.1774-148C>T	LONP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1678723	NM_004793.4(LONP1):c.1773+148C>G	LONP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1215134	NM_004793.4(LONP1):c.1773+70G>A	LONP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1196251	NM_004793.4(LONP1):c.1773+48G>A	LONP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1206533	NM_004793.4(LONP1):c.1773+34_1773+35insACCCAGAGCCCCAGGCAACCCTG	LONP1	Insertion (intron variant)	not provided	GLikely benign
Select item 784710	NM_004793.4(LONP1):c.1773+9G>A	LONP1	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 777383	NM_004793.4(LONP1):c.1767C>T (p.Ile589=)	LONP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1321759	NM_004793.4(LONP1):c.1744A>C (p.Thr582Pro)	LONP1 (T386P +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1320492	NM_004793.4(LONP1):c.1700G>A (p.Gly567Asp)	LONP1 (G371D +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1250486	NM_004793.4(LONP1):c.1686-52T>C	LONP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1218312	NM_004793.4(LONP1):c.1686-55C>T	LONP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1227346	NM_004793.4(LONP1):c.1686-194C>T	LONP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275708	NM_004793.4(LONP1):c.1685+262C>G	LONP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1213209	NM_004793.4(LONP1):c.1685+180C>T	LONP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1200357	NM_004793.4(LONP1):c.1685+179C>A	LONP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1191443	NM_004793.4(LONP1):c.1612C>T (p.Arg538Cys)	LONP1 (R342C +2 more)	Single nucleotide variant (missense variant +1 more)	CODAS syndrome +3 more	GConflicting classifications of pathogenicity
Select item 716469	NM_004793.4(LONP1):c.1518C>T (p.Ala506=)	LONP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1315989	NM_004793.4(LONP1):c.1379A>G (p.Asn460Ser)	LONP1 (N264S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 1205578	NM_004793.4(LONP1):c.1368-112G>A	LONP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1211233	NM_004793.4(LONP1):c.1368-275A>G	LONP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1218621	NM_004793.4(LONP1):c.1368-285C>T	LONP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1274956	NM_004793.4(LONP1):c.1367+295_1367+296dup	LONP1	Duplication (intron variant)	not provided	GBenign
Select item 1228522	NM_004793.4(LONP1):c.1367+295dup	LONP1	Duplication (intron variant)	not provided	GBenign
Select item 1281069	NM_004793.4(LONP1):c.1367+314del	LONP1	Deletion (intron variant)	not provided	GBenign
Select item 1183086	NM_004793.4(LONP1):c.1367+313_1367+314del	LONP1	Deletion (intron variant)	not provided	GLikely benign
Select item 1289936	NM_004793.4(LONP1):c.1367+294C>A	LONP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264172	NM_004793.4(LONP1):c.1367+166A>G	LONP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232069	NM_004793.4(LONP1):c.1367+136C>T	LONP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2885195	NM_004793.4(LONP1):c.1174C>T (p.Arg392Cys)	LONP1 (R328C +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 1213005	NM_004793.4(LONP1):c.1147-343C>T	LONP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2504459	NM_004793.4(LONP1):c.1130A>G (p.Gln377Arg)	LONP1 (Q181R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1315794	NM_004793.4(LONP1):c.1073G>C (p.Arg358Pro)	LONP1 (R162P +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1294399	NM_004793.4(LONP1):c.1063-50A>G	LONP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1198916	NM_004793.4(LONP1):c.1063-274G>A	LONP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1224766	NM_004793.4(LONP1):c.1062+80C>T	LONP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1190897	NM_004793.4(LONP1):c.1062+72C>T	LONP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1218475	NM_004793.4(LONP1):c.1061A>G (p.Asn354Ser)	LONP1 (N158S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 712229	NM_004793.4(LONP1):c.1014C>T (p.Leu338=)	LONP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 1194426	NM_004793.4(LONP1):c.997G>A (p.Asp333Asn)	LONP1 (D137N +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1722778	NM_004793.4(LONP1):c.981C>A (p.Asn327Lys)	LONP1 (N131K +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1217791	NM_004793.4(LONP1):c.932+202T>C	LONP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1206631	NM_004793.4(LONP1):c.932+157T>C	LONP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1223728	NM_004793.4(LONP1):c.932+75C>T	LONP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1700987	NM_004793.4(LONP1):c.888C>G (p.Ile296Met)	LONP1 (I100M +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1257650	NM_004793.4(LONP1):c.871-59C>T	LONP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266016	NM_004793.4(LONP1):c.871-67dup	LONP1	Duplication (intron variant)	not provided	GBenign
Select item 1268571	NM_004793.4(LONP1):c.871-306G>A	LONP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1341650	NM_004793.4(LONP1):c.870+54T>C	LONP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 523838	NM_004793.4(LONP1):c.859G>T (p.Glu287Ter)	LONP1 (E287* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely pathogenic
Select item 818055	NM_004793.4(LONP1):c.798_804del (p.Pro267fs)	LONP1 (P203fs +2 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic

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