LONP1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154560	GRCh38/hg38 19p13.3(chr19:259395-6795611)x3	LOC130062978, LOC130062979 +903 more	Copy number gain	See cases	GPathogenic
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 2046473	NM_004793.4(LONP1):c.2879G>A (p.Ter960=)	LONP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2163450	NM_004793.4(LONP1):c.2877G>A (p.Arg959=)	LONP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1614152	NM_004793.4(LONP1):c.2877G>C (p.Arg959=)	LONP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1502721	NM_004793.4(LONP1):c.2875C>T (p.Arg959Trp)	LONP1 (R763W +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1930281	NM_004793.4(LONP1):c.2869G>A (p.Val957Met)	LONP1 (V957M +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1542198	NM_004793.4(LONP1):c.2868C>T (p.Ala956=)	LONP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2997621	NM_004793.4(LONP1):c.2862G>A (p.Ala954=)	LONP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1597064	NM_004793.4(LONP1):c.2862G>C (p.Ala954=)	LONP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1719619	NM_004793.4(LONP1):c.2860G>T (p.Ala954Ser)	LONP1 (A758S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1432603	NM_004793.4(LONP1):c.2855C>T (p.Ala952Val)	LONP1 (A756V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
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 2867440	NM_004793.4(LONP1):c.2850G>A (p.Glu950=)	LONP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1432928	NM_004793.4(LONP1):c.2850G>T (p.Glu950Asp)	LONP1 (E754D +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2187777	NM_004793.4(LONP1):c.2847C>A (p.Asp949Glu)	LONP1 (D753E +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1470312	NM_004793.4(LONP1):c.2847C>G (p.Asp949Glu)	LONP1 (D949E +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1940099	NM_004793.4(LONP1):c.2844G>A (p.Pro948=)	LONP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2225227	NM_004793.4(LONP1):c.2843C>T (p.Pro948Leu)	LONP1 (P884L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1373327	NM_004793.4(LONP1):c.2843C>G (p.Pro948Arg)	LONP1 (P884R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1428177	NM_004793.4(LONP1):c.2842C>T (p.Pro948Ser)	LONP1 (P884S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2649118	NM_004793.4(LONP1):c.2838C>A (p.Ala946=)	LONP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2061049	NM_004793.4(LONP1):c.2836G>A (p.Ala946Thr)	LONP1 (A882T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2995398	NM_004793.4(LONP1):c.2835C>G (p.Ile945Met)	LONP1 (I749M +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2897041	NM_004793.4(LONP1):c.2835C>T (p.Ile945=)	LONP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1989952	NM_004793.4(LONP1):c.2830G>A (p.Asp944Asn)	LONP1 (D944N +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1356987	NM_004793.4(LONP1):c.2830G>C (p.Asp944His)	LONP1 (D880H +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2087777	NM_004793.4(LONP1):c.2822A>G (p.Glu941Gly)	LONP1 (E941G +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1947979	NM_004793.4(LONP1):c.2819G>A (p.Arg940Gln)	LONP1 (R744Q +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 827778	NM_004793.4(LONP1):c.2815T>C (p.Tyr939His)	LONP1 (Y743H +2 more)	Single nucleotide variant (missense variant +1 more)	CODAS syndrome	GLikely pathogenic
Select item 2433496	NM_004793.4(LONP1):c.2812C>T (p.His938Tyr)	LONP1 (H742Y +2 more)	Single nucleotide variant (missense variant +1 more)	CODAS syndrome	GUncertain significance
Select item 2776546	NM_004793.4(LONP1):c.2809G>C (p.Glu937Gln)	LONP1 (E873Q +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1448345	NM_004793.4(LONP1):c.2806G>A (p.Val936Met)	LONP1 (V872M +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1348593	NM_004793.4(LONP1):c.2797G>A (p.Val933Met)	LONP1 (V869M +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1959010	NM_004793.4(LONP1):c.2791C>T (p.Leu931=)	LONP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1517757	NM_004793.4(LONP1):c.2787G>A (p.Glu929=)	LONP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2978031	NM_004793.4(LONP1):c.2786A>G (p.Glu929Gly)	LONP1 (E865G +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1380336	NM_004793.4(LONP1):c.2780T>C (p.Ile927Thr)	LONP1 (I731T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1355574	NM_004793.4(LONP1):c.2779A>G (p.Ile927Val)	LONP1 (I731V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1989461	NM_004793.4(LONP1):c.2767C>T (p.Leu923=)	LONP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2991718	NM_004793.4(LONP1):c.2764G>A (p.Asp922Asn)	LONP1 (D922N +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1907933	NM_004793.4(LONP1):c.2764G>C (p.Asp922His)	LONP1 (D726H +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1659899	NM_004793.4(LONP1):c.2763C>T (p.Tyr921=)	LONP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3023803	NM_004793.4(LONP1):c.2762A>G (p.Tyr921Cys)	LONP1 (Y725C +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2733854	NM_004793.4(LONP1):c.2761T>C (p.Tyr921His)	LONP1 (Y857H +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1649296	NM_004793.4(LONP1):c.2757C>T (p.Asp919=)	LONP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2297332	NM_004793.4(LONP1):c.2756A>C (p.Asp919Ala)	LONP1 (D855A +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1999487	NM_004793.4(LONP1):c.2753A>C (p.Lys918Thr)	LONP1 (K854T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2956197	NM_004793.4(LONP1):c.2743G>A (p.Glu915Lys)	LONP1 (E719K +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2112346	NM_004793.4(LONP1):c.2743G>C (p.Glu915Gln)	LONP1 (E851Q +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2169312	NM_004793.4(LONP1):c.2742C>T (p.Ala914=)	LONP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2791044	NM_004793.4(LONP1):c.2741C>A (p.Ala914Asp)	LONP1 (A914D +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3119514	NM_004793.4(LONP1):c.2738C>T (p.Pro913Leu)	LONP1 (P913L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1425051	NM_004793.4(LONP1):c.2731G>C (p.Val911Leu)	LONP1 (V847L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
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 1537136	NM_004793.4(LONP1):c.2730C>T (p.Ile910=)	LONP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2649119	NM_004793.4(LONP1):c.2728A>G (p.Ile910Val)	LONP1 (I714V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1415090	NM_004793.4(LONP1):c.2726G>A (p.Cys909Tyr)	LONP1 (C909Y +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2994990	NM_004793.4(LONP1):c.2724G>T (p.Thr908=)	LONP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1397373	NM_004793.4(LONP1):c.2723C>T (p.Thr908Met)	LONP1 (T712M +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1967290	NM_004793.4(LONP1):c.2721G>A (p.Val907=)	LONP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2834901	NM_004793.4(LONP1):c.2717G>A (p.Gly906Glu)	LONP1 (G710E +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1030842	NM_004793.4(LONP1):c.2716G>T (p.Gly906Trp)	LONP1 (G906W +2 more)	Single nucleotide variant (missense variant +1 more)	CODAS syndrome	GUncertain significance
Select item 2160163	NM_004793.4(LONP1):c.2713G>A (p.Ala905Thr)	LONP1 (A905T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2122681	NM_004793.4(LONP1):c.2712C>A (p.Arg904=)	LONP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1533234	NM_004793.4(LONP1):c.2712C>T (p.Arg904=)	LONP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 2649120	NM_004793.4(LONP1):c.2706C>T (p.Ala902=)	LONP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1480951	NM_004793.4(LONP1):c.2704-31_2706del	LONP1	Deletion (splice acceptor variant)	not provided	GUncertain significance
Select item 871904	NM_004793.4(LONP1):c.2704G>A (p.Ala902Thr)	LONP1 (A902T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3370398	NM_004793.4(LONP1):c.2704-2A>G	LONP1	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 2179690	NM_004793.4(LONP1):c.2704-3C>T	LONP1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1612552	NM_004793.4(LONP1):c.2704-4C>A	LONP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1669097	NM_004793.4(LONP1):c.2704-9T>C	LONP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1605424	NM_004793.4(LONP1):c.2704-10C>T	LONP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2795040	NM_004793.4(LONP1):c.2704-11T>A	LONP1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1628809	NM_004793.4(LONP1):c.2704-14G>C	LONP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1604740	NM_004793.4(LONP1):c.2704-18C>A	LONP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2071070	NM_004793.4(LONP1):c.2703+20C>T	LONP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1598794	NM_004793.4(LONP1):c.2703+20C>A	LONP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1423685	NM_004793.4(LONP1):c.2703+20C>G	LONP1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1663735	NM_004793.4(LONP1):c.2703+17C>G	LONP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1498407	NM_004793.4(LONP1):c.2703+4A>G	LONP1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2724158	NM_004793.4(LONP1):c.2703G>A (p.Ala901=)	LONP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 1601060	NM_004793.4(LONP1):c.2703G>T (p.Ala901=)	LONP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1522670	NM_004793.4(LONP1):c.2702C>T (p.Ala901Val)	LONP1 (A705V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2052819	NM_004793.4(LONP1):c.2674G>A (p.Val892Ile)	LONP1 (V696I +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2561329	NM_004793.4(LONP1):c.2671C>T (p.Pro891Ser)	LONP1 (P695S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 749412	NM_004793.4(LONP1):c.2657C>T (p.Thr886Met)	LONP1 (T690M +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 3008528	NM_004793.4(LONP1):c.2643C>T (p.Gly881=)	LONP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2109157	NM_004793.4(LONP1):c.2642G>C (p.Gly881Ala)	LONP1 (G881A +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2183476	NM_004793.4(LONP1):c.2629C>T (p.Leu877=)	LONP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign

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