"LONP1-related disorder"[Disease/phenotype] AND "PreventionGenetics, p - ClinVar

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Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1166716	NM_004793.4(LONP1):c.2731G>A (p.Val911Ile)	LONP1 (V715I +2 more)	Single nucleotide variant (missense variant +1 more)	LONP1-related disorder +1 more	GBenign
Select item 1537136	NM_004793.4(LONP1):c.2730C>T (p.Ile910=)	LONP1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	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)	LONP1-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 1601060	NM_004793.4(LONP1):c.2703G>T (p.Ala901=)	LONP1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 2183476	NM_004793.4(LONP1):c.2629C>T (p.Leu877=)	LONP1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 2634876	NM_004793.4(LONP1):c.2621G>A (p.Arg874Gln)	LONP1 (R678Q +2 more)	Single nucleotide variant (missense variant +1 more)	LONP1-related disorder +1 more	GUncertain significance
Select item 713399	NM_004793.4(LONP1):c.2481G>A (p.Gln827=)	LONP1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 741291	NM_004793.4(LONP1):c.2460C>T (p.Phe820=)	LONP1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 713400	NM_004793.4(LONP1):c.2373T>C (p.Asp791=)	LONP1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 737436	NM_004793.4(LONP1):c.2250G>C (p.Val750=)	LONP1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 779180	NM_004793.4(LONP1):c.2190C>T (p.Gly730=)	LONP1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 766305	NM_004793.4(LONP1):c.2163G>T (p.Arg721=)	LONP1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 2054211	NM_004793.4(LONP1):c.2154+7G>A	LONP1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely 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 2200864	NM_004793.4(LONP1):c.2121C>T (p.Ser707=)	LONP1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 1647631	NM_004793.4(LONP1):c.2088G>A (p.Leu696=)	LONP1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 1166717	NM_004793.4(LONP1):c.1977G>A (p.Ser659=)	LONP1	Single nucleotide variant (synonymous variant +1 more)	LONP1-related disorder +1 more	GBenign
Select item 3061235	NM_004793.4(LONP1):c.1948C>T (p.Arg650Ter)	LONP1 (R454* +2 more)	Single nucleotide variant (nonsense +1 more)	LONP1-related disorder	GUncertain significance
Select item 719226	NM_004793.4(LONP1):c.1944G>A (p.Pro648=)	LONP1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
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 +1 more	GBenign/Likely benign
Select item 779468	NM_004793.4(LONP1):c.1914G>A (p.Thr638=)	LONP1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 1699449	NM_004793.4(LONP1):c.1913C>T (p.Thr638Met)	LONP1 (T442M +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 713401	NM_004793.4(LONP1):c.1896+3G>A	LONP1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 735547	NM_004793.4(LONP1):c.1875C>T (p.Asp625=)	LONP1	Single nucleotide variant (synonymous variant +1 more)	LONP1-related disorder +1 more	GLikely benign
Select item 1430361	NM_004793.4(LONP1):c.1817C>T (p.Ala606Val)	LONP1 (A542V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 1669749	NM_004793.4(LONP1):c.1815G>A (p.Ser605=)	LONP1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 717668	NM_004793.4(LONP1):c.1710C>T (p.Pro570=)	LONP1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 713402	NM_004793.4(LONP1):c.1653C>T (p.Gly551=)	LOC130063269, LONP1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 730426	NM_004793.4(LONP1):c.1613G>A (p.Arg538His)	LONP1 (R538H +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign
Select item 744060	NM_004793.4(LONP1):c.1442C>T (p.Ala481Val)	LONP1 (A417V +2 more)	Single nucleotide variant (missense variant +1 more)	LONP1-related disorder +1 more	GLikely benign
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 599431	NM_004793.4(LONP1):c.1309G>A (p.Val437Ile)	LONP1 (V373I +2 more)	Single nucleotide variant (missense variant +1 more)	LONP1-related disorder +4 more	GBenign/Likely benign
Select item 2632441	NM_004793.4(LONP1):c.1176dup (p.Lys393Ter)	LONP1 (K197* +2 more)	Duplication (nonsense +1 more)	LONP1-related disorder	GLikely pathogenic
Select item 3047571	NM_004793.4(LONP1):c.1146+6C>T	LONP1	Single nucleotide variant (intron variant)	LONP1-related disorder	GLikely benign
Select item 2631667	NM_004793.4(LONP1):c.1086_1087dup (p.Leu363fs)	LONP1 (L167fs +2 more)	Duplication (frameshift variant +1 more)	LONP1-related disorder	GUncertain significance
Select item 712230	NM_004793.4(LONP1):c.767C>T (p.Ala256Val)	LONP1 (A192V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 808425	NM_004793.4(LONP1):c.742G>A (p.Asp248Asn)	LONP1 (D248N +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 445759	NM_004793.4(LONP1):c.727AAG[1] (p.Lys244del)	LONP1 (K244del +2 more)	Microsatellite (inframe_deletion +1 more)	LONP1-related disorder +1 more	GBenign/Likely benign
Select item 1607355	NM_004793.4(LONP1):c.686C>T (p.Ala229Val)	LONP1 (A165V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 1358130	NM_004793.4(LONP1):c.563C>T (p.Thr188Met)	LONP1 (T124M +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GBenign/Likely benign
Select item 1673481	NM_004793.4(LONP1):c.528G>A (p.Ser176=)	LONP1	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GLikely benign
Select item 1415668	NM_004793.4(LONP1):c.527C>T (p.Ser176Leu)	LONP1 (S176L +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GBenign/Likely benign
Select item 1447936	NM_004793.4(LONP1):c.478G>A (p.Ala160Thr)	LONP1 (A160T +1 more)	Single nucleotide variant (missense variant +2 more)	LONP1-related disorder +2 more	GBenign/Likely benign
Select item 779985	NM_004793.4(LONP1):c.390C>T (p.Thr130=)	LONP1	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	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 disorder	GLikely benign
Select item 1382235	NM_004793.4(LONP1):c.288C>T (p.Gly96=)	LONP1	Single nucleotide variant (synonymous variant +1 more)	LONP1-related disorder +1 more	GLikely benign
Select item 2973483	NM_004793.4(LONP1):c.282C>T (p.Ala94=)	LONP1	Single nucleotide variant (synonymous variant +1 more)	LONP1-related disorder +1 more	GLikely benign
Select item 777384	NM_004793.4(LONP1):c.261G>T (p.Glu87Asp)	LONP1 (E87D)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 1538859	NM_004793.4(LONP1):c.233C>T (p.Ala78Val)	LONP1 (A78V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 1169633	NM_004793.4(LONP1):c.67A>G (p.Met23Val)	LONP1 (M23V)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GBenign/Likely benign
Select item 1431879	NM_004793.4(LONP1):c.58C>T (p.Arg20Trp)	LONP1 (R20W)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GUncertain significance

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Items: 51