10939[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	NDUFV2, NDUFV2-AS1 +380 more	Copy number gain	See cases	GPathogenic
Select item 152926	GRCh38/hg38 18p11.32-11.21(chr18:14316-14206225)x3	ADCYAP1, AFG3L2 +374 more	Copy number gain	See cases	GPathogenic
Select item 153128	GRCh38/hg38 18p11.32-11.21(chr18:48782-14978076)x1	LOC125368541, LOC125368542 +379 more	Copy number loss	See cases	GPathogenic
Select item 58720	GRCh38/hg38 18p11.32-q11.1(chr18:53345-20948503)x3	ADCYAP1, AFG3L2 +380 more	Copy number gain	See cases	GPathogenic
Select item 58718	GRCh38/hg38 18p11.32-q23(chr18:53345-80209986)x3	ABHD3, SEC11C +1649 more	Copy number gain	See cases	GPathogenic
Select item 59614	GRCh38/hg38 18p11.32-11.21(chr18:112259-14122522)x1	ADCYAP1, AFG3L2 +369 more	Copy number loss	See cases	GPathogenic
Select item 155127	GRCh38/hg38 18p11.32-11.21(chr18:118760-12642431)x3	LOC130062136, LOC130062137 +301 more	Copy number gain	See cases	GUncertain significance
Select item 152548	GRCh38/hg38 18p11.32-11.21(chr18:118760-15024003)x1	ARHGAP28, ARHGAP28-AS1 +375 more	Copy number loss	See cases	GPathogenic
Select item 149674	GRCh38/hg38 18p11.32-q23(chr18:118760-80254946)x3	FBXO15, FECH +1646 more	Copy number gain	See cases	GPathogenic
Select item 148383	GRCh38/hg38 18p11.32-11.21(chr18:118760-14089410)x1	ADCYAP1, AFG3L2 +368 more	Copy number loss	See cases	GPathogenic
Select item 148382	GRCh38/hg38 18p11.32-11.21(chr18:118760-14089410)x4	ADCYAP1, AFG3L2 +368 more	Copy number gain	See cases	GPathogenic
Select item 59617	GRCh38/hg38 18p11.32-11.21(chr18:131700-14226905)x1	ADCYAP1, AFG3L2 +369 more	Copy number loss	See cases	GPathogenic
Select item 59615	GRCh38/hg38 18p11.32-11.21(chr18:131700-15121055)x1	ADCYAP1, AFG3L2 +375 more	Copy number loss	See cases	GPathogenic
Select item 149042	GRCh38/hg38 18p11.32-11.21(chr18:133157-14089410)x1	ADCYAP1, AFG3L2 +368 more	Copy number loss	See cases	GPathogenic
Select item 155410	GRCh38/hg38 18p11.32-11.21(chr18:136226-14337134)x3	DLGAP1-AS2, DLGAP1-AS3 +369 more	Copy number gain	See cases	GPathogenic
Select item 155367	GRCh38/hg38 18p11.32-11.21(chr18:136226-15198991)x4	LOC116276488, LOC116276489 +375 more	Copy number gain	See cases	GPathogenic
Select item 155151	GRCh38/hg38 18p11.32-q23(chr18:136226-80256240)x3	LOC130062710, LOC130062711 +1646 more	Copy number gain	See cases	GPathogenic
Select item 151749	GRCh38/hg38 18p11.32-11.21(chr18:136226-15175006)	ADCYAP1, AFG3L2 +375 more	Copy number gain	See cases	GPathogenic
Select item 154106	GRCh38/hg38 18p11.32-q23(chr18:136227-80256240)x3	ADNP2, ARHGAP28 +1646 more	Copy number gain	See cases	GPathogenic
Select item 160884	GRCh38/hg38 18p11.32-11.21(chr18:148963-14081888)x1	ADCYAP1, AFG3L2 +368 more	Copy number loss	See cases	GPathogenic
Select item 160810	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	LOC126862732, LOC126862733 +1646 more	Copy number gain	See cases	GPathogenic
Select item 146198	GRCh38/hg38 18p11.32-11.21(chr18:148963-14081888)x4	ADCYAP1, AFG3L2 +368 more	Copy number gain	See cases	GPathogenic
Select item 59916	GRCh38/hg38 18p11.32-11.21(chr18:148963-13068104)x1	ADCYAP1, AFG3L2 +328 more	Copy number loss	See cases	GPathogenic
Select item 59913	GRCh38/hg38 18p11.32-11.21(chr18:148963-13530126)x1	ADCYAP1, AFG3L2 +345 more	Copy number loss	See cases	GPathogenic
Select item 58729	GRCh38/hg38 18p11.32-q23(chr18:148963-80244381)x3	LOC129390967, LOC129390968 +1645 more	Copy number gain	See cases	GPathogenic
Select item 58728	GRCh38/hg38 18p11.32-q11.1(chr18:148963-21040153)x3	ADCYAP1, AFG3L2 +376 more	Copy number gain	See cases	GPathogenic
Select item 57340	GRCh38/hg38 18p11.32-11.21(chr18:148963-13715860)x1	ADCYAP1, AFG3L2 +359 more	Copy number loss	See cases	GPathogenic
Select item 34384	GRCh38/hg38 18p11.32-11.21(chr18:148963-14081888)x1	ADCYAP1, AFG3L2 +368 more	Copy number loss	See cases	GPathogenic
Select item 33085	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	RIT2, RMC1 +1646 more	Copy number gain	See cases	GPathogenic
Select item 150559	GRCh38/hg38 18p11.32-q23(chr18:149089-80254936)x3	ADCYAP1, ABHD3 +1646 more	Copy number gain	See cases	GPathogenic
Select item 144654	GRCh38/hg38 18p11.32-q23(chr18:149089-80234391)x3	LOC130062114, LOC130062115 +1645 more	Copy number gain	See cases	GPathogenic
Select item 2579191	GRCh38/hg38 18p11.32-11.21(chr18:158286-14124574)x1	ADCYAP1, AFG3L2 +368 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	LOC130062102, LOC130062103 +340 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	LINC01443, LINC01444 +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 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	TUBB6, AFG3L2	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	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)	not provided +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)	not provided +1 more	GBenign/Likely benign
Select item 326101	NM_006796.3(AFG3L2):c.*28G>C	AFG3L2, TUBB6	Single nucleotide variant (3 prime UTR variant)	not provided +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	TUBB6, AFG3L2	Single nucleotide variant (3 prime UTR variant)	Spinocerebellar ataxia type 28 +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)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2893280	NM_006796.3(AFG3L2):c.2358G>A (p.Glu786=)	TUBB6, AFG3L2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3375055	NM_006796.3(AFG3L2):c.2353A>G (p.Lys785Glu)	AFG3L2, TUBB6 (K785E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1806911	NM_006796.3(AFG3L2):c.2350G>A (p.Glu784Lys)	TUBB6, AFG3L2 (E784K)	Single nucleotide variant (missense variant +1 more)	not provided	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 423779	NM_006796.3(AFG3L2):c.2347C>T (p.Arg783Trp)	AFG3L2, TUBB6 (R783W)	Single nucleotide variant (missense variant +1 more)	Spinocerebellar ataxia type 28 +1 more	GUncertain significance
Select item 326102	NM_006796.3(AFG3L2):c.2346G>T (p.Glu782Asp)	AFG3L2, TUBB6 (E782D)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
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 3274830	NM_006796.3(AFG3L2):c.2317C>G (p.Pro773Ala)	AFG3L2, TUBB6 (P773A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 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 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 2161341	NM_006796.3(AFG3L2):c.2312C>T (p.Ser771Leu)	AFG3L2, TUBB6 (S771L)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
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 3380540	NM_006796.3(AFG3L2):c.2252C>A (p.Ala751Glu)	AFG3L2, TUBB6 (A751E)	Single nucleotide variant (missense variant +1 more)	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)	not provided +1 more	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 +1 more	GUncertain significance
Select item 3336248	NM_006796.3(AFG3L2):c.2222T>C (p.Met741Thr)	AFG3L2, TUBB6 (M741T)	Single nucleotide variant (missense variant +1 more)	not specified	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 1694866	NM_006796.3(AFG3L2):c.2218G>T (p.Asp740Tyr)	TUBB6, AFG3L2 (D740Y)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
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 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 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 1180098	NM_006796.3(AFG3L2):c.2176-142C>T	AFG3L2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1196969	NM_006796.3(AFG3L2):c.2176-238_2176-235del	AFG3L2	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1283602	NM_006796.3(AFG3L2):c.2176-273G>A	AFG3L2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1224017	NM_006796.3(AFG3L2):c.2175+130T>A	AFG3L2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2994154	NM_006796.3(AFG3L2):c.2175+19A>G	AFG3L2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 136315	NM_006796.3(AFG3L2):c.2175+18G>A	AFG3L2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 326103	NM_006796.3(AFG3L2):c.2175+14G>A	AFG3L2	Single nucleotide variant (intron variant)	Spinocerebellar ataxia type 28	GLikely benign
Select item 2004942	NM_006796.3(AFG3L2):c.2172G>T (p.Glu724Asp)	AFG3L2 (E724D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1328909	NM_006796.3(AFG3L2):c.2167G>T (p.Val723Leu)	AFG3L2 (V723L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 214062	NM_006796.3(AFG3L2):c.2167G>A (p.Val723Met)	AFG3L2 (V723M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 2907709	NM_006796.3(AFG3L2):c.2166C>T (p.Asp722=)	AFG3L2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2745883	NM_006796.3(AFG3L2):c.2155_2156del (p.Lys719fs)	AFG3L2 (K719fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1705364	NM_006796.3(AFG3L2):c.2156A>G (p.Lys719Arg)	AFG3L2 (K719R)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 28	GUncertain significance
Select item 2788728	NM_006796.3(AFG3L2):c.2150C>T (p.Thr717Ile)	AFG3L2 (T717I)	Single nucleotide variant (missense variant)	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 2682409	NM_006796.3(AFG3L2):c.2140G>A (p.Ala714Thr)	AFG3L2 (A714T)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2648595	NM_006796.3(AFG3L2):c.2132G>T (p.Arg711Ile)	AFG3L2 (R711I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2058030	NM_006796.3(AFG3L2):c.2129A>T (p.Lys710Ile)	AFG3L2 (K710I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3375665	NM_006796.3(AFG3L2):c.2125T>C (p.Tyr709His)	AFG3L2 (Y709H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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