ClinVar for Gene (Select 9361) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 895

<< First< Prev

Page of 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3119518	NM_004793.4(LONP1):c.910A>G (p.Ile304Val)	LONP1 (I240V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3119517	NM_004793.4(LONP1):c.67A>T (p.Met23Leu)	LONP1 (M23L)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 3119516	NM_004793.4(LONP1):c.395A>C (p.Asn132Thr)	LONP1 (N68T +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3119515	NM_004793.4(LONP1):c.327A>G (p.Ile109Met)	LOC130063270, LONP1 (I45M +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	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 3119513	NM_004793.4(LONP1):c.2266A>T (p.Met756Leu)	LONP1 (M560L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3119512	NM_004793.4(LONP1):c.2189G>A (p.Gly730Asp)	LONP1 (G534D +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3119511	NM_004793.4(LONP1):c.19T>C (p.Tyr7His)	LONP1 (Y7H)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3119510	NM_004793.4(LONP1):c.1993G>C (p.Glu665Gln)	LONP1 (E601Q +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3119509	NM_004793.4(LONP1):c.1849G>A (p.Ala617Thr)	LONP1 (A617T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3119508	NM_004793.4(LONP1):c.1765A>T (p.Ile589Phe)	LONP1 (I393F +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3119507	NM_004793.4(LONP1):c.13A>C (p.Thr5Pro)	LONP1 (T5P)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3067490	NM_004793.4(LONP1):c.792T>G (p.Pro264=)	LONP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3064699	NM_004793.4(LONP1):c.2422G>A (p.Glu808Lys)	LONP1 (E612K +2 more)	Single nucleotide variant (missense variant +1 more)	CODAS syndrome	GUncertain significance
Select item 3061235	NM_004793.4(LONP1):c.1948C>T (p.Arg650Ter)	LONP1 (R454* +2 more)	Single nucleotide variant (nonsense +1 more)	LONP1-related condition	GUncertain significance
Select item 3047571	NM_004793.4(LONP1):c.1146+6C>T	LONP1	Single nucleotide variant (intron variant)	LONP1-related condition	GLikely benign
Select item 3032425	NM_004793.4(LONP1):c.306C>A (p.Gly102=)	LOC130063270, LONP1	Single nucleotide variant (synonymous variant +2 more)	LONP1-related condition	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 3020909	NM_004793.4(LONP1):c.2499C>T (p.Asp833=)	LONP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3018648	NM_004793.4(LONP1):c.1056G>C (p.Glu352Asp)	LONP1 (E156D +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3017946	NM_004793.4(LONP1):c.933-6C>T	LONP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3017869	NM_004793.4(LONP1):c.1534G>A (p.Gly512Ser)	LONP1 (G448S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3016963	NM_004793.4(LONP1):c.1060A>G (p.Asn354Asp)	LONP1 (N158D +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3014538	NM_004793.4(LONP1):c.283G>A (p.Gly95Ser)	LONP1 (G95S)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3014169	NM_004793.4(LONP1):c.2218G>A (p.Glu740Lys)	LONP1 (E544K +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3009492	NM_004793.4(LONP1):c.968G>A (p.Arg323Gln)	LONP1 (R127Q +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 3008467	NM_004793.4(LONP1):c.1803G>C (p.Gly601=)	LONP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3008306	NM_004793.4(LONP1):c.1137G>C (p.Leu379=)	LONP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3007875	NM_004793.4(LONP1):c.2539-16C>T	LONP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3007002	NM_004793.4(LONP1):c.638+13C>T	LONP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3005885	NM_004793.4(LONP1):c.52G>A (p.Val18Met)	LONP1 (V18M)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3005347	NM_004793.4(LONP1):c.2168C>T (p.Ser723Leu)	LONP1 (S527L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3003236	NM_004793.4(LONP1):c.800C>T (p.Pro267Leu)	LONP1 (P267L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3002634	NM_004793.4(LONP1):c.2041C>T (p.Leu681=)	LONP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3002393	NM_004793.4(LONP1):c.1854C>A (p.Asn618Lys)	LONP1 (N554K +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3001985	NM_004793.4(LONP1):c.2330C>T (p.Thr777Met)	LONP1 (T581M +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3000878	NM_004793.4(LONP1):c.2154+2T>C	LONP1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 3000617	NM_004793.4(LONP1):c.1359G>A (p.Ser453=)	LONP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2999780	NM_004793.4(LONP1):c.2014-15C>A	LONP1	Single nucleotide variant (intron variant)	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 2996487	NM_004793.4(LONP1):c.518+15dup	LONP1	Duplication (intron variant)	not provided	GBenign
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 2994990	NM_004793.4(LONP1):c.2724G>T (p.Thr908=)	LONP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2993830	NM_004793.4(LONP1):c.1686-7C>T	LONP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2993075	NM_004793.4(LONP1):c.2267T>C (p.Met756Thr)	LONP1 (M692T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 2991548	NM_004793.4(LONP1):c.2256C>A (p.Thr752=)	LONP1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2991193	NM_004793.4(LONP1):c.243G>A (p.Gly81=)	LONP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2989903	NM_004793.4(LONP1):c.1814C>G (p.Ser605Trp)	LONP1 (S409W +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2989763	NM_004793.4(LONP1):c.1304T>C (p.Met435Thr)	LONP1 (M239T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2989756	NM_004793.4(LONP1):c.642C>G (p.Val214=)	LONP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2988148	NM_004793.4(LONP1):c.2286C>T (p.Pro762=)	LONP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2986226	NM_004793.4(LONP1):c.1774-9C>T	LONP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2985755	NM_004793.4(LONP1):c.1458G>A (p.Val486=)	LONP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2985718	NM_004793.4(LONP1):c.2154+3G>A	LONP1	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2984435	NM_004793.4(LONP1):c.764C>T (p.Pro255Leu)	LONP1 (P191L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2981262	NM_004793.4(LONP1):c.1367+20C>T	LONP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2979424	NM_004793.4(LONP1):c.1864C>T (p.His622Tyr)	LONP1 (H426Y +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 2976686	NM_004793.4(LONP1):c.355G>C (p.Asp119His)	LOC130063270, LONP1 (D119H +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2976595	NM_004793.4(LONP1):c.897C>T (p.Thr299=)	LONP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2973841	NM_004793.4(LONP1):c.2466A>G (p.Arg822=)	LONP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2973483	NM_004793.4(LONP1):c.282C>T (p.Ala94=)	LONP1	Single nucleotide variant (synonymous variant +1 more)	LONP1-related condition +1 more	GLikely benign
Select item 2972444	NM_004793.4(LONP1):c.2155-19T>A	LONP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2970577	NM_004793.4(LONP1):c.2320+14C>T	LONP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2969667	NM_004793.4(LONP1):c.1293C>G (p.Pro431=)	LONP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2969635	NM_004793.4(LONP1):c.638+13_638+29del	LONP1	Deletion (intron variant)	not provided	GLikely benign
Select item 2969630	NM_004793.4(LONP1):c.858G>A (p.Thr286=)	LONP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2969267	NM_004793.4(LONP1):c.473G>A (p.Arg158His)	LONP1 (R94H +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 2968866	NM_004793.4(LONP1):c.1438C>G (p.Leu480Val)	LONP1 (L284V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2967463	NM_004793.4(LONP1):c.834T>C (p.Val278=)	LONP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2966543	NM_004793.4(LONP1):c.1413C>T (p.Gly471=)	LONP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2965385	NM_004793.4(LONP1):c.584A>G (p.His195Arg)	LONP1 (H131R +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2965040	NM_004793.4(LONP1):c.1285G>A (p.Val429Met)	LONP1 (V233M +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2962480	NM_004793.4(LONP1):c.107G>A (p.Gly36Glu)	LONP1 (G36E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2956686	NM_004793.4(LONP1):c.1400C>G (p.Ser467Cys)	LONP1 (S403C +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
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 2920367	NM_004793.4(LONP1):c.1847A>G (p.Asn616Ser)	LONP1 (N552S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2909385	NM_004793.4(LONP1):c.903G>C (p.Arg301=)	LONP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2907605	NM_004793.4(LONP1):c.2379G>A (p.Lys793=)	LONP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2905558	NM_004793.4(LONP1):c.1615G>A (p.Ala539Thr)	LONP1 (A475T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2899164	NM_004793.4(LONP1):c.2196C>T (p.Ala732=)	LONP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
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 2896662	NM_004793.4(LONP1):c.2441C>T (p.Ala814Val)	LONP1 (A750V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2894040	NM_004793.4(LONP1):c.745G>A (p.Glu249Lys)	LONP1 (E53K +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2889450	NM_004793.4(LONP1):c.1809G>A (p.Pro603=)	LONP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2888205	NM_004793.4(LONP1):c.1005C>T (p.Gly335=)	LONP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2887257	NM_004793.4(LONP1):c.1774-10G>A	LONP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2885536	NM_004793.4(LONP1):c.2467G>A (p.Ala823Thr)	LONP1 (A823T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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	GLikely benign
Select item 2882542	NM_004793.4(LONP1):c.2013+3A>G	LONP1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2879215	NM_004793.4(LONP1):c.158C>T (p.Ala53Val)	LONP1 (A53V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2878474	NM_004793.4(LONP1):c.1375C>T (p.Arg459Cys)	LONP1 (R263C +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2877817	NM_004793.4(LONP1):c.2217C>G (p.Pro739=)	LONP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2877282	NM_004793.4(LONP1):c.1896+10C>T	LONP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2874497	NM_004793.4(LONP1):c.1638C>T (p.Arg546=)	LONP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2873438	NM_004793.4(LONP1):c.1355C>G (p.Ser452Cys)	LONP1 (S388C +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2869834	NM_004793.4(LONP1):c.1704C>T (p.Ala568=)	LONP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2867440	NM_004793.4(LONP1):c.2850G>A (p.Glu950=)	LONP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign

<< First< Prev

Page of 9