84617[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58716	GRCh38/hg38 18p11.32-11.21(chr18:10001-15380684)x3	ADCYAP1, AFG3L2 +379 more	Copy number gain	See cases	GPathogenic
Select item 152926	GRCh38/hg38 18p11.32-11.21(chr18:14316-14206225)x3	ADCYAP1, AFG3L2 +373 more	Copy number gain	See cases	GPathogenic
Select item 153128	GRCh38/hg38 18p11.32-11.21(chr18:48782-14978076)x1	ADCYAP1, AFG3L2 +378 more	Copy number loss	See cases	GPathogenic
Select item 58720	GRCh38/hg38 18p11.32-q11.1(chr18:53345-20948503)x3	LINC00668, LINC01254 +379 more	Copy number gain	See cases	GPathogenic
Select item 58718	GRCh38/hg38 18p11.32-q23(chr18:53345-80209986)x3	ABHD3, ACAA2 +1646 more	Copy number gain	See cases	GPathogenic
Select item 59614	GRCh38/hg38 18p11.32-11.21(chr18:112259-14122522)x1	ADCYAP1, AFG3L2 +368 more	Copy number loss	See cases	GPathogenic
Select item 155127	GRCh38/hg38 18p11.32-11.21(chr18:118760-12642431)x3	LOC129390958, LOC130062070 +300 more	Copy number gain	See cases	GUncertain significance
Select item 152548	GRCh38/hg38 18p11.32-11.21(chr18:118760-15024003)x1	NDUFV2-AS1, PIEZO2 +374 more	Copy number loss	See cases	GPathogenic
Select item 149674	GRCh38/hg38 18p11.32-q23(chr18:118760-80254946)x3	LOC126862711, LOC126862712 +1643 more	Copy number gain	See cases	GPathogenic
Select item 148383	GRCh38/hg38 18p11.32-11.21(chr18:118760-14089410)x1	LOC130062167, LOC130062168 +367 more	Copy number loss	See cases	GPathogenic
Select item 148382	GRCh38/hg38 18p11.32-11.21(chr18:118760-14089410)x4	LOC125338465, LOC125338466 +367 more	Copy number gain	See cases	GPathogenic
Select item 59617	GRCh38/hg38 18p11.32-11.21(chr18:131700-14226905)x1	LOC130062104, LOC130062105 +368 more	Copy number loss	See cases	GPathogenic
Select item 59615	GRCh38/hg38 18p11.32-11.21(chr18:131700-15121055)x1	ADCYAP1, AFG3L2 +374 more	Copy number loss	See cases	GPathogenic
Select item 149042	GRCh38/hg38 18p11.32-11.21(chr18:133157-14089410)x1	ADCYAP1, AFG3L2 +367 more	Copy number loss	See cases	GPathogenic
Select item 155410	GRCh38/hg38 18p11.32-11.21(chr18:136226-14337134)x3	LOC130062144, LOC130062145 +368 more	Copy number gain	See cases	GPathogenic
Select item 155367	GRCh38/hg38 18p11.32-11.21(chr18:136226-15198991)x4	ADCYAP1, AFG3L2 +374 more	Copy number gain	See cases	GPathogenic
Select item 155151	GRCh38/hg38 18p11.32-q23(chr18:136226-80256240)x3	LOC130062667, LOC130062668 +1643 more	Copy number gain	See cases	GPathogenic
Select item 151749	GRCh38/hg38 18p11.32-11.21(chr18:136226-15175006)	ADCYAP1, AFG3L2 +374 more	Copy number gain	See cases	GPathogenic
Select item 154106	GRCh38/hg38 18p11.32-q23(chr18:136227-80256240)x3	LOC130062278, LOC130062279 +1643 more	Copy number gain	See cases	GPathogenic
Select item 160884	GRCh38/hg38 18p11.32-11.21(chr18:148963-14081888)x1	ADCYAP1, AFG3L2 +367 more	Copy number loss	See cases	GPathogenic
Select item 160810	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	LOC126862732, LOC126862733 +1643 more	Copy number gain	See cases	GPathogenic
Select item 146198	GRCh38/hg38 18p11.32-11.21(chr18:148963-14081888)x4	ADCYAP1, AFG3L2 +367 more	Copy number gain	See cases	GPathogenic
Select item 59916	GRCh38/hg38 18p11.32-11.21(chr18:148963-13068104)x1	ADCYAP1, AFG3L2 +327 more	Copy number loss	See cases	GPathogenic
Select item 59913	GRCh38/hg38 18p11.32-11.21(chr18:148963-13530126)x1	ADCYAP1, AFG3L2 +344 more	Copy number loss	See cases	GPathogenic
Select item 58729	GRCh38/hg38 18p11.32-q23(chr18:148963-80244381)x3	ANKRD12, ANKRD29 +1642 more	Copy number gain	See cases	GPathogenic
Select item 58728	GRCh38/hg38 18p11.32-q11.1(chr18:148963-21040153)x3	SLC35G4, SMCHD1 +375 more	Copy number gain	See cases	GPathogenic
Select item 57340	GRCh38/hg38 18p11.32-11.21(chr18:148963-13715860)x1	LOC129390955, LOC129390956 +358 more	Copy number loss	See cases	GPathogenic
Select item 34384	GRCh38/hg38 18p11.32-11.21(chr18:148963-14081888)x1	ADCYAP1, AFG3L2 +367 more	Copy number loss	See cases	GPathogenic
Select item 33085	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	SERPINB12, SERPINB13 +1643 more	Copy number gain	See cases	GPathogenic
Select item 150559	GRCh38/hg38 18p11.32-q23(chr18:149089-80254936)x3	LOC125368553, LOC125368554 +1643 more	Copy number gain	See cases	GPathogenic
Select item 144654	GRCh38/hg38 18p11.32-q23(chr18:149089-80234391)x3	LOC130062355, LOC130062356 +1642 more	Copy number gain	See cases	GPathogenic
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 58749	GRCh38/hg38 18p11.32-11.21(chr18:1919684-15325188)x3	LOC130062147, LOC130062148 +339 more	Copy number gain	See cases	GPathogenic
Select item 148429	GRCh38/hg38 18p11.23-11.21(chr18:7290175-13049470)x1	AFG3L2, ANKRD12 +164 more	Copy number loss	See cases	GLikely pathogenic
Select item 155008	GRCh38/hg38 18p11.22-q11.2(chr18:8779843-24685379)x3	LOC130062208, LOC130062209 +322 more	Copy number gain	See cases	GPathogenic
Select item 147418	GRCh38/hg38 18p11.22-11.21(chr18:10077657-14081888)x3	AFG3L2, ANKRD62 +137 more	Copy number gain	See cases	GPathogenic
Select item 144318	GRCh38/hg38 18p11.21(chr18:12159446-12739785)	AFG3L2, ANKRD62 +23 more	Copy number gain	See cases	GPathogenic
Select item 3024367	GRCh38/hg38 18p11.21(chr18:12244578-12507815)	AFG3L2, CIDEA +11 more	Copy number gain	Autism spectrum disorder	GUncertain significance
Select item 1684204	NM_032525.3(TUBB6):c.-49T>A	TUBB6	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 1684205	NM_032525.3(TUBB6):c.-47C>T	TUBB6	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 1684207	NM_032525.3(TUBB6):c.-19G>T	TUBB6	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
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 1684208	NM_032525.3(TUBB6):c.57+29C>A	LOC130062196, TUBB6	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
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 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 1684209	NM_032525.3(TUBB6):c.165G>C (p.Ser55=)	TUBB6	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GBenign
Select item 3330208	NM_032525.3(TUBB6):c.230G>A (p.Arg77Gln)	TUBB6 (R5Q +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
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 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 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 2648593	NM_032525.3(TUBB6):c.354C>T (p.Asp118=)	TUBB6	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
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 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 3330209	NM_032525.3(TUBB6):c.406A>T (p.Thr136Ser)	TUBB6 (T99S +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	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 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 3330211	NM_032525.3(TUBB6):c.509T>A (p.Met170Lys)	TUBB6 (M105K +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 3048769	NM_032525.3(TUBB6):c.564G>A (p.Ser188=)	TUBB6	Single nucleotide variant (synonymous variant +1 more)	TUBB6-related disorder	GBenign
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 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 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 3330212	NM_032525.3(TUBB6):c.607G>A (p.Asp203Asn)	TUBB6 (D138N +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 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 3345102	NM_032525.3(TUBB6):c.785G>A (p.Arg262His)	TUBB6 (R116H +4 more)	Single nucleotide variant (missense variant +1 more)	TUBB6-related disorder	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 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 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 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 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 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 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 444894	NM_032525.3(TUBB6):c.1181T>C (p.Phe394Ser)	TUBB6 (F394S +4 more)	Single nucleotide variant (missense variant +1 more)	Facial palsy, congenital, with ptosis and velopharyngeal dysfunction	GPathogenic
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 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 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 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 326095	NM_006796.3(AFG3L2):c.*484A>G	AFG3L2, TUBB6	Single nucleotide variant (3 prime UTR variant +1 more)	Spinocerebellar ataxia type 28	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 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 326097	NM_006796.3(AFG3L2):c.*326G>A	TUBB6, AFG3L2	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 +1 more	GBenign
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 326100	NM_006796.3(AFG3L2):c.*109A>C	AFG3L2, TUBB6	Single nucleotide variant (3 prime UTR variant)	Spinocerebellar ataxia type 28 +1 more	GBenign/Likely benign
Select item 326101	NM_006796.3(AFG3L2):c.*28G>C	TUBB6, AFG3L2	Single nucleotide variant (3 prime UTR variant)	Optic atrophy 12 +3 more	GBenign
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 136316	NM_006796.3(AFG3L2):c.*2G>A	AFG3L2, TUBB6	Single nucleotide variant (3 prime UTR variant)	not specified +2 more	GBenign
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 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 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 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 3253173	NM_006796.3(AFG3L2):c.2375del (p.Gly792fs)	AFG3L2, TUBB6 (G792fs)	Deletion (frameshift variant +1 more)	not provided	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 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 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 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 2893280	NM_006796.3(AFG3L2):c.2358G>A (p.Glu786=)	AFG3L2, TUBB6	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
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

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