Related gene-specific medical variations for Gene (Select 9361) - ClinVar

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Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 2848894	NM_004793.4(LONP1):c.345G>T (p.Met115Ile)	LOC130063270, LONP1 (M115I +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2808816	NM_004793.4(LONP1):c.347C>T (p.Thr116Met)	LOC130063270, LONP1 (T116M +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2786796	NM_004793.4(LONP1):c.316G>C (p.Gly106Arg)	LOC130063270, LONP1 (G106R)	Single nucleotide variant (intron variant +3 more)	not provided	GUncertain significance
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 2419111	NM_004793.4(LONP1):c.306_311dup (p.Gly104_Glu105insAlaGly)	LOC130063270, LONP1	Duplication (inframe_insertion +2 more)	not provided	GUncertain significance
Select item 2419068	NM_004793.4(LONP1):c.329C>T (p.Thr110Met)	LOC130063270, LONP1 (T110M +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2176317	NM_004793.4(LONP1):c.320C>A (p.Pro107Gln)	LOC130063270, LONP1 (P107Q +1 more)	Single nucleotide variant (intron variant +2 more)	not provided	GUncertain significance
Select item 2152740	NM_004793.4(LONP1):c.338C>A (p.Thr113Lys)	LOC130063270, LONP1 (T113K +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 2013568	NM_004793.4(LONP1):c.323T>A (p.Val108Asp)	LOC130063270, LONP1 (V44D +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1992170	NM_004793.4(LONP1):c.309C>T (p.Ala103=)	LOC130063270, LONP1	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 1984795	NM_004793.4(LONP1):c.1645G>A (p.Val549Ile)	LOC130063269, LONP1 (V549I +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1895998	NM_004793.4(LONP1):c.308C>T (p.Ala103Val)	LOC130063270, LONP1 (A103V)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 1803395	NM_004793.4(LONP1):c.341C>A (p.Pro114His)	LOC130063270, LONP1 (P114H +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1629928	NM_004793.4(LONP1):c.321G>A (p.Pro107=)	LOC130063270, LONP1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1600283	NM_004793.4(LONP1):c.1685+12C>G	LOC130063269, LONP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1594482	NM_004793.4(LONP1):c.1647C>T (p.Val549=)	LOC130063269, LONP1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1577790	NM_004793.4(LONP1):c.1662C>T (p.Asp554=)	LOC130063269, LONP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1563799	NM_004793.4(LONP1):c.1644C>T (p.Ser548=)	LOC130063269, LONP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1524103	NM_004793.4(LONP1):c.1685+6C>T	LOC130063269, LONP1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1520746	NM_004793.4(LONP1):c.356A>G (p.Asp119Gly)	LOC130063270, LONP1 (D55G +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1479374	NM_004793.4(LONP1):c.314A>G (p.Glu105Gly)	LOC130063270, LONP1 (E105G)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1466013	NM_004793.4(LONP1):c.1660G>C (p.Asp554His)	LONP1, LOC130063269 (D490H +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1445674	NM_004793.4(LONP1):c.334C>G (p.Leu112Val)	LOC130063270, LONP1 (L112V +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1445421	NM_004793.4(LONP1):c.320C>G (p.Pro107Arg)	LOC130063270, LONP1 (P107R +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 1437470	NM_004793.4(LONP1):c.318C>T (p.Gly106=)	LOC130063270, LONP1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1426167	NM_004793.4(LONP1):c.302C>T (p.Ala101Val)	LOC130063270, LONP1 (A101V)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 1423913	NM_004793.4(LONP1):c.353C>G (p.Pro118Arg)	LOC130063270, LONP1 (P118R +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1414089	NM_004793.4(LONP1):c.323T>G (p.Val108Gly)	LOC130063270, LONP1 (V44G +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1409320	NM_004793.4(LONP1):c.1683C>G (p.His561Gln)	LOC130063269, LONP1 (H497Q +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1333192	NM_004793.4(LONP1):c.325A>G (p.Ile109Val)	LOC130063270, LONP1 (I109V +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1320530	NM_004793.4(LONP1):c.310G>C (p.Gly104Arg)	LOC130063270, LONP1 (G104R)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1319073	NM_004793.4(LONP1):c.76G>C (p.Ala26Pro)	LONP1 (A26P)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1319072	NM_004793.4(LONP1):c.79G>C (p.Ala27Pro)	LONP1 (A27P)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1258867	NM_004793.4(LONP1):c.27_55dup	LOC130063267, LONP1	Duplication (3 prime UTR variant +1 more)	not provided	GBenign
Select item 930532	NM_001276480.1(LONP1):c.-160+1G>A	LONP1	Single nucleotide variant (splice donor variant)	CODAS syndrome	GLikely 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 591986	NM_004793.4(LONP1):c.2422G>T (p.Glu808Ter)	LONP1 (E808* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 591831	NM_004793.4(LONP1):c.69_70delinsAG (p.Met23_Leu24delinsIleVal)	LONP1	Indel (missense variant +2 more)	not provided	GUncertain significance
Select item 591506	NM_004793.4(LONP1):c.1847A>C (p.Asn616Thr)	LONP1 (N616T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 520763	NM_004793.4(LONP1):c.374C>T (p.Pro125Leu)	LOC130063270, LONP1 (P125L +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance

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Links from Gene

Items: 44