Related gene-specific medical variations for Gene (Select 10939) - ClinVar

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Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3069060	NM_006796.3(AFG3L2):c.2375G>C (p.Gly792Ala)	AFG3L2, TUBB6 (G792A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3065542	NM_006796.3(AFG3L2):c.1586C>T (p.Ala529Val)	AFG3L2 (A529V)	Single nucleotide variant (missense variant)	Glycogen storage disease type III	GLikely pathogenic
Select item 3052257	NM_006796.3(AFG3L2):c.2176-7A>C	AFG3L2, TUBB6	Single nucleotide variant (3 prime UTR variant +1 more)	AFG3L2-related condition	GLikely benign
Select item 2976379	NM_006796.3(AFG3L2):c.2239C>G (p.Pro747Ala)	AFG3L2, TUBB6 (P747A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2893280	NM_006796.3(AFG3L2):c.2358G>A (p.Glu786=)	AFG3L2, TUBB6	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2855736	NM_006796.3(AFG3L2):c.2364G>A (p.Glu788=)	AFG3L2, TUBB6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2684345	NM_006796.3(AFG3L2):c.1386G>A (p.Ala462=)	AFG3L2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2684344	NM_006796.3(AFG3L2):c.1177T>C (p.Phe393Leu)	AFG3L2 (F393L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2663739	NM_006796.3(AFG3L2):c.2218G>C (p.Asp740His)	AFG3L2, TUBB6 (D740H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2627484	NM_006796.3(AFG3L2):c.2394G>C (p.Ter798Tyr)	AFG3L2, TUBB6	Single nucleotide variant (stop lost +1 more)	not provided +1 more	GUncertain significance
Select item 2627222	NM_006796.3(AFG3L2):c.2372C>T (p.Pro791Leu)	AFG3L2, TUBB6 (P791L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2575979	NM_006796.3(AFG3L2):c.1081A>G (p.Thr361Ala)	AFG3L2 (T361A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2438915	NM_006796.3(AFG3L2):c.869G>A (p.Ser290Asn)	AFG3L2 (S290N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2249228	NM_006796.3(AFG3L2):c.2252C>T (p.Ala751Val)	AFG3L2, TUBB6 (A751V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2161341	NM_006796.3(AFG3L2):c.2312C>T (p.Ser771Leu)	AFG3L2, TUBB6 (S771L)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1924780	NM_006796.3(AFG3L2):c.2359A>G (p.Lys787Glu)	AFG3L2, TUBB6 (K787E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1806915	NM_006796.3(AFG3L2):c.1512A>G (p.Lys504=)	AFG3L2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1806914	NM_006796.3(AFG3L2):c.2060A>C (p.Lys687Thr)	AFG3L2 (K687T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1806913	NM_006796.3(AFG3L2):c.2295C>T (p.Ser765=)	AFG3L2, TUBB6	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 1806911	NM_006796.3(AFG3L2):c.2350G>A (p.Glu784Lys)	AFG3L2, TUBB6 (E784K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1806910	NM_006796.3(AFG3L2):c.1742C>G (p.Ala581Gly)	AFG3L2 (A581G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1700709	NM_006796.3(AFG3L2):c.1958dup (p.Thr654fs)	AFG3L2 (T654fs)	Duplication (frameshift variant)	Spinocerebellar ataxia type 28	Gnot provided
Select item 1700708	NM_006796.3(AFG3L2):c.2065T>A (p.Tyr689Asn)	AFG3L2 (Y689N)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 28	Gnot provided
Select item 1694866	NM_006796.3(AFG3L2):c.2218G>T (p.Asp740Tyr)	TUBB6, AFG3L2 (D740Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1298309	NM_006796.3(AFG3L2):c.2143C>T (p.Leu715Phe)	AFG3L2 (L715F)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 28	GUncertain significance
Select item 1256168	NM_006796.3(AFG3L2):c.2063C>T (p.Pro688Leu)	AFG3L2 (P688L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1256167	NM_006796.3(AFG3L2):c.1780-4C>T	AFG3L2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1256166	NM_006796.3(AFG3L2):c.1013C>T (p.Ala338Val)	AFG3L2 (A338V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1256165	NM_006796.3(AFG3L2):c.2314C>A (p.Leu772Ile)	AFG3L2, TUBB6 (L772I)	Single nucleotide variant (missense variant +1 more)	Spastic ataxia 5 +3 more	GUncertain significance
Select item 1184872	NM_006796.3(AFG3L2):c.2011G>T (p.Gly671Trp)	AFG3L2 (G671W)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 994947	NM_006796.3(AFG3L2):c.2025T>A (p.Phe675Leu)	AFG3L2 (F675L)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 973203	NM_006796.3(AFG3L2):c.1814A>G (p.Tyr605Cys)	AFG3L2 (Y605C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 973200	NM_006796.3(AFG3L2):c.2375dup (p.Gly792_Glu793insTer)	AFG3L2, TUBB6	Duplication (frameshift variant +1 more)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 973112	NM_006796.3(AFG3L2):c.[1814A>G;2375dup]	AFG3L2, TUBB6 (Y605C)	Duplication (frameshift variant +2 more)	Optic atrophy	GPathogenic
Select item 892473	NM_006796.3(AFG3L2):c.*379T>A	AFG3L2, TUBB6	Single nucleotide variant (3 prime UTR variant)	Spinocerebellar ataxia type 28	GUncertain significance
Select item 733398	NM_006796.3(AFG3L2):c.2195A>G (p.Glu732Gly)	TUBB6, AFG3L2 (E732G)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 682373	NM_006796.3(AFG3L2):c.2382A>G (p.Lys794=)	AFG3L2, TUBB6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 624107	NM_006796.3(AFG3L2):c.2316T>G (p.Leu772=)	AFG3L2, TUBB6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 586462	NM_006796.3(AFG3L2):c.2327T>C (p.Leu776Pro)	AFG3L2, TUBB6 (L776P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 451875	NM_006796.3(AFG3L2):c.2392T>C (p.Ter798Gln)	AFG3L2, TUBB6	Single nucleotide variant (stop lost +1 more)	not provided	GUncertain significance
Select item 450638	NM_006796.3(AFG3L2):c.2185C>G (p.Leu729Val)	AFG3L2, TUBB6 (L729V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 423779	NM_006796.3(AFG3L2):c.2347C>T (p.Arg783Trp)	TUBB6, AFG3L2 (R783W)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 384240	NM_006796.3(AFG3L2):c.*16C>T	AFG3L2, TUBB6	Single nucleotide variant (3 prime UTR variant)	not specified	GLikely benign
Select item 326102	NM_006796.3(AFG3L2):c.2346G>T (p.Glu782Asp)	AFG3L2, TUBB6 (E782D)	Single nucleotide variant (missense variant +1 more)	Spinocerebellar ataxia type 28	GUncertain significance
Select item 326101	NM_006796.3(AFG3L2):c.*28G>C	AFG3L2, TUBB6	Single nucleotide variant (3 prime UTR variant)	Optic atrophy 12 +3 more	GBenign
Select item 326100	NM_006796.3(AFG3L2):c.*109A>C	TUBB6, AFG3L2	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 326099	NM_006796.3(AFG3L2):c.*221A>G	AFG3L2, TUBB6	Single nucleotide variant (3 prime UTR variant)	Spinocerebellar ataxia type 28	GUncertain significance
Select item 326098	NM_006796.3(AFG3L2):c.*311C>T	AFG3L2, TUBB6	Single nucleotide variant (3 prime UTR variant)	Spinocerebellar ataxia type 28	GBenign
Select item 326097	NM_006796.3(AFG3L2):c.*326G>A	AFG3L2, TUBB6	Single nucleotide variant (3 prime UTR variant)	Spinocerebellar ataxia type 28	GUncertain significance
Select item 326096	NM_006796.3(AFG3L2):c.*373G>A	AFG3L2, TUBB6	Single nucleotide variant (3 prime UTR variant)	Spinocerebellar ataxia type 28	GUncertain significance
Select item 326095	NM_006796.3(AFG3L2):c.*484A>G	TUBB6, AFG3L2	Single nucleotide variant (3 prime UTR variant +1 more)	Spinocerebellar ataxia type 28	GUncertain significance
Select item 326094	NM_006796.3(AFG3L2):c.*585A>C	AFG3L2, TUBB6	Single nucleotide variant (3 prime UTR variant +1 more)	Spinocerebellar ataxia type 28	GUncertain significance
Select item 214058	NM_006796.3(AFG3L2):c.2348G>A (p.Arg783Gln)	TUBB6, AFG3L2 (R783Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 214057	NM_006796.3(AFG3L2):c.2314C>T (p.Leu772Phe)	AFG3L2, TUBB6 (L772F)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 136316	NM_006796.3(AFG3L2):c.*2G>A	AFG3L2, TUBB6	Single nucleotide variant (3 prime UTR variant)	AFG3L2-related condition +2 more	GBenign
Select item 38392	NM_006796.3(AFG3L2):c.2012G>A (p.Gly671Glu)	AFG3L2 (G671E)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 28	Gnot provided
Select item 38389	NM_006796.3(AFG3L2):c.1997T>C (p.Met666Thr)	AFG3L2 (M666T)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 28	Gnot provided

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Links from Gene

Items: 57