ClinVar for MedGen (Select 333031) - ClinVar

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Items: 31

	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 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 1699449	NM_004793.4(LONP1):c.1913C>T (p.Thr638Met)	LONP1 (T442M +2 more)	Single nucleotide variant (missense variant +1 more)	CODAS syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1518939	NM_004793.4(LONP1):c.1600C>T (p.Arg534Cys)	LONP1 (R470C +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1512536	NM_004793.4(LONP1):c.64_90del (p.Pro22_Arg30del)	LONP1	Deletion (inframe_deletion +2 more)	CODAS syndrome +1 more	GUncertain significance
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 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 1332780	NM_004793.4(LONP1):c.488A>C (p.Tyr163Ser)	LONP1 (Y163S +1 more)	Single nucleotide variant (missense variant +2 more)	CODAS syndrome	GUncertain significance
Select item 1191443	NM_004793.4(LONP1):c.1612C>T (p.Arg538Cys)	LONP1 (R342C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1168228	NM_004793.4(LONP1):c.1896+15T>C	LONP1	Single nucleotide variant (intron variant)	CODAS syndrome +1 more	GBenign
Select item 1032940	NM_004793.4(LONP1):c.2542G>A (p.Ala848Thr)	LONP1 (A848T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1030843	NM_004793.4(LONP1):c.788C>T (p.Thr263Ile)	LONP1 (T67I +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
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 1030841	NM_004793.4(LONP1):c.2482C>T (p.His828Tyr)	LONP1 (H632Y +2 more)	Single nucleotide variant (missense variant +1 more)	CODAS syndrome +1 more	GUncertain significance
Select item 1030840	NM_004793.4(LONP1):c.2203G>A (p.Val735Met)	LONP1 (V735M +2 more)	Single nucleotide variant (missense variant +1 more)	CODAS syndrome +2 more	GConflicting classifications of pathogenicity
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 942724	NM_004793.4(LONP1):c.2282C>T (p.Pro761Leu)	LONP1 (P697L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 931724	NM_004793.4(LONP1):c.1939G>A (p.Glu647Lys)	LONP1 (E583K +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 931723	NM_004793.4(LONP1):c.2014C>T (p.Arg672Cys)	LONP1 (R476C +2 more)	Single nucleotide variant (missense variant +1 more)	CODAS syndrome +1 more	GConflicting classifications of pathogenicity
Select item 930532	NM_001276480.1(LONP1):c.-160+1G>A	LONP1	Single nucleotide variant (splice donor variant)	CODAS syndrome	GLikely benign
Select item 827779	NM_004793.4(LONP1):c.1321G>A (p.Glu441Lys)	LONP1 (E245K +2 more)	Single nucleotide variant (missense variant +1 more)	CODAS syndrome +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 813927	NM_004793.4(LONP1):c.1985T>G (p.Val662Gly)	LONP1 (V466G +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 813926	NM_004793.4(LONP1):c.2536G>A (p.Glu846Lys)	LONP1 (E650K +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 800802	NM_004793.4(LONP1):c.889G>A (p.Val297Met)	LONP1 (V233M +2 more)	Single nucleotide variant (missense variant +1 more)	CODAS syndrome	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)	not provided +4 more	GBenign/Likely benign
Select item 547905	NM_004793.4(LONP1):c.796C>G (p.Leu266Val)	LONP1 (L266V +2 more)	Single nucleotide variant (missense variant +1 more)	CODAS syndrome +1 more	GUncertain significance
Select item 180660	NM_004793.4(LONP1):c.2171C>T (p.Ala724Val)	LONP1 (A724V +2 more)	Single nucleotide variant (missense variant +1 more)	CODAS syndrome	GPathogenic
Select item 180659	NM_004793.4(LONP1):c.1892C>A (p.Ser631Tyr)	LONP1 (S631Y +2 more)	Single nucleotide variant (missense variant +1 more)	CODAS syndrome	GPathogenic
Select item 180658	NM_004793.4(LONP1):c.2026C>T (p.Pro676Ser)	LONP1 (P676S +2 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder +1 more	GConflicting classifications of pathogenicity
Select item 180657	NM_004793.4(LONP1):c.2353A>G (p.Arg785Gly)	LONP1 (R721G +2 more)	Single nucleotide variant (missense variant +1 more)	CODAS syndrome	GPathogenic

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Items: 31