ClinVar for Gene (Select 84617) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3184764	NM_032525.3(TUBB6):c.667G>A (p.Gly223Arg)	TUBB6 (G158R +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3184763	NM_032525.3(TUBB6):c.361C>G (p.Arg121Gly)	TUBB6 (R121G +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3184762	NM_032525.3(TUBB6):c.315C>A (p.His105Gln)	TUBB6 (H33Q +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3184761	NM_032525.3(TUBB6):c.1134C>A (p.Phe378Leu)	TUBB6 (F306L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3184760	NM_032525.3(TUBB6):c.1094C>G (p.Ser365Cys)	TUBB6 (S219C +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 3063563	GRCh37/hg19 18p11.32-11.21(chr18:136226-14352648)x1	ADCYAP1, AFG3L2 +63 more	Copy number loss	not specified	GPathogenic
Select item 3063558	GRCh37/hg19 18p11.32-11.21(chr18:136226-15161581)x1	ADCYAP1, AFG3L2 +65 more	Copy number loss	not specified	GPathogenic
Select item 3063542	GRCh37/hg19 18p11.31-11.21(chr18:2922899-15198990)x3	AFG3L2, AKAIN1 +51 more	Copy number gain	not specified	GPathogenic
Select item 3063540	GRCh37/hg19 18p11.32-11.21(chr18:136226-14455323)x3	ADCYAP1, AFG3L2 +63 more	Copy number gain	not specified	GPathogenic
Select item 3063538	GRCh37/hg19 18p11.21(chr18:11200889-12792186)x3	AFG3L2, ANKRD62 +12 more	Copy number gain	not specified	GUncertain significance
Select item 3063537	GRCh37/hg19 18p11.32-11.21(chr18:136226-14148354)x3	ADCYAP1, AFG3L2 +63 more	Copy number gain	not specified	GPathogenic
Select item 3062373	GRCh37/hg19 18p11.32-11.21(chr18:136227-15157836)x3	ADCYAP1, AFG3L2 +65 more	Copy number gain	not specified	GPathogenic
Select item 3061814	NM_032525.3(TUBB6):c.375G>C (p.Glu125Asp)	TUBB6 (E125D +3 more)	Single nucleotide variant (missense variant +2 more)	Facial palsy, congenital, with ptosis and velopharyngeal dysfunction	GUncertain significance
Select item 3061813	NM_032525.3(TUBB6):c.1228G>A (p.Glu410Lys)	TUBB6 (E264K +4 more)	Single nucleotide variant (missense variant +1 more)	Facial palsy, congenital, with ptosis and velopharyngeal dysfunction	GUncertain significance
Select item 3053443	NM_032525.3(TUBB6):c.414G>A (p.Ser138=)	TUBB6	Single nucleotide variant (synonymous variant +2 more)	TUBB6-related disorder	GLikely benign
Select item 3052257	NM_006796.3(AFG3L2):c.2176-7A>C	AFG3L2, TUBB6	Single nucleotide variant (3 prime UTR variant +1 more)	AFG3L2-related disorder	GLikely benign
Select item 3048769	NM_032525.3(TUBB6):c.564G>A (p.Ser188=)	TUBB6	Single nucleotide variant (synonymous variant +1 more)	TUBB6-related disorder	GBenign
Select item 3047536	NM_032525.3(TUBB6):c.1233G>A (p.Ala411=)	TUBB6	Single nucleotide variant (synonymous variant +1 more)	TUBB6-related disorder	GLikely benign
Select item 3038475	NM_032525.3(TUBB6):c.934A>G (p.Thr312Ala)	TUBB6 (T166A +4 more)	Single nucleotide variant (missense variant +1 more)	TUBB6-related disorder	GBenign
Select item 3024367	GRCh38/hg38 18p11.21(chr18:12244578-12507815)	AFG3L2, CIDEA +11 more	Copy number gain	Autism spectrum disorder	GUncertain significance
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 2685611	GRCh37/hg19 18p11.32-11.21(chr18:136227-14585159)x1	ADCYAP1, AFG3L2 +64 more	Copy number loss	not provided	GPathogenic
Select item 2685058	GRCh37/hg19 18p11.32-q11.1(chr18:136227-18521285)x4	ADCYAP1, AFG3L2 +65 more	Copy number gain	not provided	GPathogenic
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 2648594	NM_032525.3(TUBB6):c.582G>A (p.Glu194=)	TUBB6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2648593	NM_032525.3(TUBB6):c.354C>T (p.Asp118=)	TUBB6	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 2632779	NM_032525.3(TUBB6):c.707T>A (p.Val236Asp)	TUBB6 (V164D +4 more)	Single nucleotide variant (missense variant +1 more)	TUBB6-related disorder	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 2610524	NM_032525.3(TUBB6):c.592G>A (p.Glu198Lys)	TUBB6 (E198K +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2580154	NM_032525.3(TUBB6):c.1153T>A (p.Phe385Ile)	TUBB6 (F239I +4 more)	Single nucleotide variant (missense variant +1 more)	Ptosis	GLikely pathogenic
Select item 2579191	GRCh38/hg38 18p11.32-11.21(chr18:158286-14124574)x1	ADCYAP1, AFG3L2 +367 more	Copy number loss	Deletion of short arm of chromosome 18	GPathogenic
Select item 2535302	NM_032525.3(TUBB6):c.92A>T (p.Asp31Val)	LOC130062197, TUBB6 (D31V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2523720	NM_032525.3(TUBB6):c.326G>A (p.Gly109Asp)	TUBB6 (G109D +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2465176	NM_032525.3(TUBB6):c.1075C>T (p.Arg359Cys)	TUBB6 (R287C +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2446821	GRCh37/hg19 18p11.32-11.1(chr18:1-15400035)	ADCYAP1, AFG3L2 +65 more	Copy number loss	Deletion of short arm of chromosome 18	GPathogenic
Select item 2426533	NC_000018.9:g.(?_10454979)_(12725530_?)del	AFG3L2, ANKRD62 +14 more	Deletion	not provided	GUncertain significance
Select item 2423825	NC_000018.9:g.(?_9102742)_(12725530_?)dup	AFG3L2, ANKRD12 +22 more	Duplication	Dystonic disorder	GUncertain significance
Select item 2387128	NM_032525.3(TUBB6):c.1172G>A (p.Arg391His)	TUBB6 (R245H +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2348209	NM_032525.3(TUBB6):c.25G>T (p.Ala9Ser)	LOC130062196, TUBB6 (A9S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2335408	NM_032525.3(TUBB6):c.505G>A (p.Val169Ile)	TUBB6 (V104I +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2318866	NM_032525.3(TUBB6):c.538G>A (p.Val180Met)	TUBB6 (V34M +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2270429	NM_032525.3(TUBB6):c.827G>A (p.Arg276His)	TUBB6 (R239H +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2260051	NM_032525.3(TUBB6):c.593A>T (p.Glu198Val)	TUBB6 (E198V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2249228	NM_006796.3(AFG3L2):c.2252C>T (p.Ala751Val)	AFG3L2, TUBB6 (A751V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2228928	NM_032525.3(TUBB6):c.1315G>A (p.Asp439Asn)	TUBB6 (D293N +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not provided +1 more	GUncertain significance
Select item 1809411	GRCh37/hg19 18p11.21(chr18:12218695-12570235)x3	AFG3L2, CIDEA +3 more	Copy number gain	not provided	GUncertain significance
Select item 1809347	GRCh37/hg19 18p11.21(chr18:12249702-12570235)x3	AFG3L2, CIDEA +3 more	Copy number gain	not provided	GUncertain significance
Select item 1809166	GRCh37/hg19 18p11.21(chr18:12238850-12454719)x3	AFG3L2, CIDEA +3 more	Copy number gain	not provided	GUncertain significance
Select item 1807752	GRCh37/hg19 18p11.21(chr18:11290617-15106305)x3	AFG3L2, ANKRD30B +22 more	Copy number gain	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 1706501	GRCh37/hg19 18p11.32-11.21(chr18:136226-14632436)x1	METTL4, MPPE1 +64 more	Copy number loss	See cases	GPathogenic
Select item 1703574	GRCh37/hg19 18p11.32-q23(chr18:1-78077248)	CABYR, CBLN2 +267 more	Copy number gain	Trisomy 18	GPathogenic
Select item 1701345	GRCh37/hg19 18p11.32-11.21(chr18:47390-14854037)x3	ZNF519, ADCYAP1 +65 more	Copy number gain	not provided	GPathogenic
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 1684209	NM_032525.3(TUBB6):c.165G>C (p.Ser55=)	TUBB6	Single nucleotide variant (synonymous variant +2 more)	TUBB6-related disorder +1 more	GBenign
Select item 1684208	NM_032525.3(TUBB6):c.57+29C>A	LOC130062196, TUBB6	Single nucleotide variant (intron variant)	Facial palsy, congenital, with ptosis and velopharyngeal dysfunction	GBenign
Select item 1684207	NM_032525.3(TUBB6):c.-19G>T	TUBB6	Single nucleotide variant (5 prime UTR variant)	Facial palsy, congenital, with ptosis and velopharyngeal dysfunction	GBenign
Select item 1684205	NM_032525.3(TUBB6):c.-47C>T	TUBB6	Single nucleotide variant (5 prime UTR variant +1 more)	Facial palsy, congenital, with ptosis and velopharyngeal dysfunction	GBenign
Select item 1684204	NM_032525.3(TUBB6):c.-49T>A	TUBB6	Single nucleotide variant (5 prime UTR variant +1 more)	Facial palsy, congenital, with ptosis and velopharyngeal dysfunction	GBenign
Select item 1526597	GRCh37/hg19 18p11.32-q23(chr18:136226-78014123)	ABHD3, ACAA2 +267 more	Copy number gain	not specified	GPathogenic
Select item 1526594	GRCh37/hg19 18p11.32-11.21(chr18:136226-15198990)	ADCYAP1, AFG3L2 +65 more	Copy number gain	not specified	GPathogenic
Select item 1526593	GRCh37/hg19 18p11.32-11.21(chr18:136226-14983938)	ADCYAP1, AFG3L2 +65 more	Copy number loss	not specified	GPathogenic
Select item 1526592	GRCh37/hg19 18p11.32-11.21(chr18:136226-14384326)	ADCYAP1, AFG3L2 +63 more	Copy number gain	not specified	GPathogenic
Select item 1526591	GRCh37/hg19 18p11.32-11.21(chr18:136226-13655146)	TUBB6, TWSG1 +58 more	Copy number loss	not specified	GPathogenic
Select item 1340066	GRCh37/hg19 18p11.32-q12.1(chr18:136226-25252276)x3	ABHD3, ADCYAP1 +95 more	Copy number gain	not provided	GPathogenic
Select item 1330176	GRCh37/hg19 18p11.32-11.1(chr18:10501-15410398)x1	ADCYAP1, AFG3L2 +65 more	Copy number loss	Deletion of short arm of chromosome 18	GPathogenic
Select item 1326872	Single allele	DLGAP1, DLGAP1-AS2 +174 more	Deletion	Intellectual disability	GPathogenic
Select item 1256165	NM_006796.3(AFG3L2):c.2314C>A (p.Leu772Ile)	AFG3L2, TUBB6 (L772I)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 1077182	Single allele	AFG3L2, AKAIN1 +50 more	Deletion	Deletion of short arm of chromosome 18	GPathogenic
Select item 1050648	NM_032525.3(TUBB6):c.257G>A (p.Arg86Gln)	TUBB6 (R14Q +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 979519	GRCh37/hg19 18p11.23-11.1(chr18:7598173-15422644)x1	MTCL1, CIDEA +36 more	Copy number loss	not provided	GPathogenic
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 928696	NM_032525.3(TUBB6):c.90C>G (p.Ile30Met)	LOC130062197, TUBB6 (I30M)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
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 816496	GRCh37/hg19 18p11.32-11.21(chr18:13034-15330525)x1	MYL12B, FAM210A +65 more	Copy number loss	See cases	GPathogenic
Select item 815988	GRCh37/hg19 18p11.32-q11.1(chr18:136226-18529578)x1	ADCYAP1, AFG3L2 +65 more	Copy number loss	not provided	GPathogenic
Select item 815987	GRCh37/hg19 18p11.32-11.21(chr18:136226-15175005)x1	MC2R, ZBTB14 +65 more	Copy number loss	not provided	GPathogenic
Select item 815986	GRCh37/hg19 18p11.32-11.21(chr18:136304-15143714)x1	CEP192, TUBB6 +65 more	Copy number loss	not provided	GPathogenic
Select item 815981	GRCh37/hg19 18p11.32-11.21(chr18:136226-13894429)x1	RAB12, RAB31 +62 more	Copy number loss	not provided	GPathogenic
Select item 733398	NM_006796.3(AFG3L2):c.2195A>G (p.Glu732Gly)	AFG3L2, TUBB6 (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 564565	GRCh37/hg19 18p11.32-11.21(chr18:136226-15198990)x4	NDUFV2, POTEC +65 more	Copy number gain	not provided	GPathogenic
Select item 564564	GRCh37/hg19 18p11.32-11.21(chr18:136226-15198989)x1	DLGAP1, ZNF519 +65 more	Copy number loss	not provided	GPathogenic
Select item 564563	GRCh37/hg19 18p11.32-11.21(chr18:136226-15157836)x4	PSMG2, SMCHD1 +65 more	Copy number gain	not provided	GPathogenic
Select item 564562	GRCh37/hg19 18p11.32-11.21(chr18:958974-15181666)x3	LPIN2, SLC35G4 +55 more	Copy number gain	not provided	GPathogenic
Select item 564559	GRCh37/hg19 18p11.32-11.21(chr18:136226-12767079)x1	DLGAP1-AS2, SMCHD1 +54 more	Copy number loss	not provided	GPathogenic
Select item 503584	GRCh37/hg19 18p11.32-11.21(chr18:13034-15375878)x1	GNAL, IMPA2 +65 more	Copy number loss	See cases	GPathogenic
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 446344	GRCh37/hg19 18p11.32-11.21(chr18:13034-15026309)x1	ADCYAP1, AFG3L2 +65 more	Copy number loss	See cases	GPathogenic

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