256309[Gene ID] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58042	GRCh38/hg38 4q26-35.2(chr4:118065569-190042639)x3	AADAT, ABCE1 +1310 more	Copy number gain	See cases	GPathogenic
Select item 58043	GRCh38/hg38 4q27-35.2(chr4:121518223-190062270)x3	AADAT, ABCE1 +1245 more	Copy number gain	See cases	GPathogenic
Select item 149581	GRCh38/hg38 4q28.1-35.1(chr4:125432943-185761887)x3	QKILA, RAB33B +1102 more	Copy number gain	See cases	GPathogenic
Select item 148653	GRCh38/hg38 4q28.3-35.2(chr4:131985253-190095391)x3	LOC129993091, LOC129993092 +1068 more	Copy number gain	See cases	GPathogenic
Select item 155492	GRCh38/hg38 4q28.3-35.2(chr4:134935616-190036318)x3	LOC132090717, LOC132090718 +1051 more	Copy number gain	See cases	GPathogenic
Select item 147647	GRCh38/hg38 4q31.1-35.2(chr4:138510532-189963195)x3	LOC129993335, LOC129993336 +1026 more	Copy number gain	See cases	GPathogenic
Select item 146581	GRCh38/hg38 4q31.21-35.2(chr4:145042668-189975519)x3	AADAT, ABCE1 +903 more	Copy number gain	See cases	GPathogenic
Select item 152441	GRCh38/hg38 4q32.1-35.2(chr4:160757699-190091407)x3	AADAT, ACSL1 +553 more	Copy number gain	See cases	GPathogenic
Select item 57053	GRCh38/hg38 4q32.2-35.2(chr4:162013220-189975519)x3	MTNR1A, NAF1 +535 more	Copy number gain	See cases	GPathogenic
Select item 59505	GRCh38/hg38 4q32.3-35.2(chr4:164039530-189982708)x1	LOC129993482, LOC129993483 +509 more	Copy number loss	See cases	GPathogenic
Select item 151716	GRCh38/hg38 4q32.3-35.2(chr4:165281036-190018185)x1	LOC129993424, LOC129993425 +485 more	Copy number loss	See cases	GPathogenic
Select item 148458	GRCh38/hg38 4q32.3-35.2(chr4:166317587-190095391)x1	MIR4455, MIR548T +466 more	Copy number loss	See cases	GPathogenic
Select item 153653	GRCh38/hg38 4q32.3-35.2(chr4:167373716-190036318)x1	LOC129993469, LOC129993470 +455 more	Copy number loss	See cases	GPathogenic
Select item 155264	GRCh38/hg38 4q32.3-35.2(chr4:168119317-190095391)x3	LOC129993480, LOC129993481 +451 more	Copy number gain	See cases	GPathogenic
Select item 154300	GRCh38/hg38 4q32.3-35.2(chr4:168970400-186936738)x1	AADAT, ACSL1 +386 more	Copy number loss	See cases	GPathogenic
Select item 151692	GRCh38/hg38 4q33-35.2(chr4:169873508-190018185)x1	AADAT, ACSL1 +399 more	Copy number loss	See cases	GPathogenic
Select item 149543	GRCh38/hg38 4q33-35.2(chr4:169901205-190095391)x3	SAP30-DT, SCRG1 +401 more	Copy number gain	See cases	GUncertain significance
Select item 155165	GRCh38/hg38 4q33-35.2(chr4:170899124-190036318)x1	LOC126807230, LOC126807231 +383 more	Copy number loss	See cases	GPathogenic
Select item 59507	GRCh38/hg38 4q34.1-35.2(chr4:171507704-189869726)x1	UFSP2, VEGFC +375 more	Copy number loss	See cases	GPathogenic
Select item 58061	GRCh38/hg38 4q34.1-35.2(chr4:172200228-189975519)x3	MIR4455, MIR548T +369 more	Copy number gain	See cases	GPathogenic
Select item 59510	GRCh38/hg38 4q34.1-35.2(chr4:172356988-189975519)x1	ACSL1, ADAM29 +369 more	Copy number loss	See cases	GPathogenic
Select item 155012	GRCh38/hg38 4q34.1-35.2(chr4:172501374-190095332)x1	ACSL1, ADAM29 +372 more	Copy number loss	See cases	GPathogenic
Select item 57133	GRCh38/hg38 4q34.1-35.2(chr4:173599911-188624331)x1	ACSL1, ADAM29 +322 more	Copy number loss	See cases	GPathogenic
Select item 59511	GRCh38/hg38 4q34.1-35.2(chr4:173754675-189343295)x1	ACSL1, ADAM29 +330 more	Copy number loss	See cases	GPathogenic
Select item 146879	GRCh38/hg38 4q34.1-35.2(chr4:173854560-189548183)x1	ACSL1, ADAM29 +330 more	Copy number loss	See cases	GPathogenic
Select item 152991	GRCh38/hg38 4q34.1-35.2(chr4:173989029-189975519)x1	FLJ38576, FRG1 +339 more	Copy number loss	See cases	GPathogenic
Select item 57505	GRCh38/hg38 4q34.2-35.2(chr4:175483683-189975519)x1	ACSL1, AGA +324 more	Copy number loss	See cases	GPathogenic
Select item 155559	GRCh38/hg38 4q34.3-35.2(chr4:176756632-189621964)x1	ACSL1, AGA +293 more	Copy number loss	See cases	GLikely pathogenic
Select item 59532	GRCh38/hg38 4q34.3-35.2(chr4:177442769-190042639)x1	LOC132089100, LOC132089101 +293 more	Copy number loss	See cases	GPathogenic
Select item 148007	GRCh38/hg38 4q34.3-35.2(chr4:177985956-189975519)x1	LOC126807226, LOC126807227 +285 more	Copy number loss	See cases	GPathogenic
Select item 148268	GRCh38/hg38 4q34.3-35.2(chr4:178014570-190095391)x1	ACSL1, ANKRD37 +287 more	Copy number loss	See cases	GPathogenic
Select item 148187	GRCh38/hg38 4q34.3-35.2(chr4:178549472-190095391)x1	ACSL1, ANKRD37 +286 more	Copy number loss	See cases	GPathogenic
Select item 151757	GRCh38/hg38 4q34.3-35.2(chr4:179295511-190036318)x3	LOC132089106, LOC132089107 +282 more	Copy number gain	See cases	GPathogenic
Select item 58062	GRCh38/hg38 4q34.3-35.2(chr4:179946068-189548183)x3	ACSL1, ANKRD37 +267 more	Copy number gain	See cases	GPathogenic
Select item 146393	GRCh38/hg38 4q34.3-35.2(chr4:180451652-190095391)x3	ACSL1, ANKRD37 +275 more	Copy number gain	See cases	GLikely pathogenic
Select item 148270	GRCh38/hg38 4q34.3-35.2(chr4:180574962-190095391)x1	ACSL1, ANKRD37 +275 more	Copy number loss	See cases	GPathogenic
Select item 154943	GRCh38/hg38 4q34.3-35.2(chr4:180717850-190095391)x3	WWC2, WWC2-AS1 +274 more	Copy number gain	See cases	GPathogenic
Select item 161066	GRCh38/hg38 4q34.3-35.1(chr4:181579626-186100199)x1	ACSL1, ANKRD37 +193 more	Copy number loss	See cases	GPathogenic
Select item 33229	GRCh38/hg38 4q34.3-35.1(chr4:181579626-186100199)x1	ACSL1, ANKRD37 +193 more	Copy number loss	See cases	GPathogenic
Select item 144872	GRCh38/hg38 4q35.1-35.2(chr4:182437091-190018185)x1	ACSL1, ANKRD37 +256 more	Copy number loss	See cases	GPathogenic
Select item 153318	GRCh38/hg38 4q35.1-35.2(chr4:182732498-187998523)x4	ACSL1, ANKRD37 +223 more	Copy number gain	See cases	GLikely pathogenic
Select item 58063	GRCh38/hg38 4q35.1(chr4:182990639-186013514)x3	ACSL1, ANKRD37 +165 more	Copy number gain	See cases	GPathogenic
Select item 149694	GRCh38/hg38 4q35.1-35.2(chr4:183072743-190095391)x1	ACSL1, ANKRD37 +241 more	Copy number loss	See cases	GPathogenic
Select item 59536	GRCh38/hg38 4q35.1-35.2(chr4:183354112-190042639)x1	ACSL1, ANKRD37 +228 more	Copy number loss	See cases	GPathogenic
Select item 57066	GRCh38/hg38 4q35.1-35.2(chr4:183528264-188624331)x1	ACSL1, ANKRD37 +197 more	Copy number loss	See cases	GPathogenic
Select item 147808	GRCh38/hg38 4q35.1-35.2(chr4:184239531-189975519)x1	ACSL1, ANKRD37 +206 more	Copy number loss	See cases	GPathogenic
Select item 144227	GRCh38/hg38 4q35.1-35.2(chr4:184327081-189975519)x1	ACSL1, ANKRD37 +185 more	Copy number loss	See cases	GLikely pathogenic
Select item 144226	GRCh38/hg38 4q35.1-35.2(chr4:184327081-189975519)x3	ACSL1, ANKRD37 +185 more	Copy number gain	See cases	GPathogenic
Select item 144741	GRCh38/hg38 4q35.1-35.2(chr4:184406972-188915538)x3	ACSL1, ANKRD37 +162 more	Copy number gain	See cases	GPathogenic
Select item 152921	GRCh38/hg38 4q35.1-35.2(chr4:184924265-186578389)x3	ANKRD37, CCDC110 +69 more	Copy number gain	See cases	GPathogenic
Select item 59537	GRCh38/hg38 4q35.1-35.2(chr4:185074103-189867552)x1	ANKRD37, CCDC110 +118 more	Copy number loss	See cases	GPathogenic
Select item 525144	NC_000004.12:g.(?_185143353)_(185535454_?)del	ANKRD37, CCDC110 +35 more	Deletion	Primary dilated cardiomyopathy +1 more	GUncertain significance
Select item 153280	GRCh38/hg38 4q35.1-35.2(chr4:185290811-187350114)x1	ANKRD37, CCDC110 +67 more	Copy number loss	See cases	GLikely benign
Select item 545305	Single allele	ANKRD37, CCDC110 +80 more	Duplication	Autism	GLikely pathogenic
Select item 59551	GRCh38/hg38 4q35.1-35.2(chr4:185351249-189867552)x1	ANKRD37, CCDC110 +92 more	Copy number loss	See cases	GPathogenic
Select item 2475024	NM_152775.4(CCDC110):c.2497C>T (p.His833Tyr)	CFAP96, CCDC110 (H796Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3138253	NM_152775.4(CCDC110):c.2480A>G (p.Asp827Gly)	CCDC110, CFAP96 (D827G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 151685	GRCh38/hg38 4q35.1(chr4:185447633-185579529)x3	CCDC110, CFAP96 +6 more	Copy number gain	See cases	GLikely benign
Select item 2241249	NM_001114357.3(CFAP96):c.916G>C (p.Val306Leu)	CCDC110, CFAP96 (V306L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2220097	NM_152775.4(CCDC110):c.2415A>T (p.Glu805Asp)	CCDC110 (E768D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362688	NM_152775.4(CCDC110):c.2413G>A (p.Glu805Lys)	CCDC110 (E805K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403966	NM_152775.4(CCDC110):c.2294G>A (p.Arg765Gln)	CCDC110 (R765Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617467	NM_152775.4(CCDC110):c.2275A>G (p.Thr759Ala)	CCDC110 (T759A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263776	NM_152775.4(CCDC110):c.2219C>A (p.Thr740Asn)	CCDC110 (T703N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138250	NM_152775.4(CCDC110):c.2167A>G (p.Lys723Glu)	CCDC110 (K723E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454959	NM_152775.4(CCDC110):c.2123T>C (p.Val708Ala)	CCDC110 (V708A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285534	NM_152775.4(CCDC110):c.2089A>G (p.Ile697Val)	CCDC110 (I697V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138249	NM_152775.4(CCDC110):c.2017G>A (p.Glu673Lys)	CCDC110 (E636K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263779	NM_152775.4(CCDC110):c.2012C>T (p.Thr671Ile)	CCDC110 (T634I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553018	NM_152775.4(CCDC110):c.1889T>C (p.Leu630Pro)	CCDC110 (L593P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468548	NM_152775.4(CCDC110):c.1874C>T (p.Thr625Met)	CCDC110 (T625M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263775	NM_152775.4(CCDC110):c.1697G>A (p.Arg566Gln)	CCDC110 (R529Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599067	NM_152775.4(CCDC110):c.1671G>T (p.Met557Ile)	CCDC110 (M557I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138248	NM_152775.4(CCDC110):c.1670T>C (p.Met557Thr)	CCDC110 (M557T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138247	NM_152775.4(CCDC110):c.1588A>G (p.Ile530Val)	CCDC110 (I493V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363767	NM_152775.4(CCDC110):c.1525A>G (p.Lys509Glu)	CCDC110 (K472E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138245	NM_152775.4(CCDC110):c.1468A>G (p.Ile490Val)	CCDC110 (I453V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404475	NM_152775.4(CCDC110):c.1418T>C (p.Val473Ala)	CCDC110 (V473A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610633	NM_152775.4(CCDC110):c.1364T>G (p.Leu455Arg)	CCDC110 (L418R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138244	NM_152775.4(CCDC110):c.1258G>A (p.Val420Ile)	CCDC110 (V383I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361299	NM_152775.4(CCDC110):c.1234G>A (p.Glu412Lys)	CCDC110 (E375K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367296	NM_152775.4(CCDC110):c.1138T>C (p.Tyr380His)	CCDC110 (Y343H +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3138243	NM_152775.4(CCDC110):c.1108G>A (p.Asp370Asn)	CCDC110 (D333N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263780	NM_152775.4(CCDC110):c.1043T>G (p.Met348Arg)	CCDC110 (M311R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138260	NM_152775.4(CCDC110):c.910A>C (p.Asn304His)	CCDC110 (N267H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138259	NM_152775.4(CCDC110):c.901G>A (p.Gly301Ser)	CCDC110 (G264S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3263778	NM_152775.4(CCDC110):c.871A>C (p.Met291Leu)	CCDC110 (M254L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532459	NM_152775.4(CCDC110):c.851C>G (p.Ser284Cys)	CCDC110 (S284C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251113	NM_152775.4(CCDC110):c.625C>A (p.Pro209Thr)	CCDC110 (P172T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260075	NM_152775.4(CCDC110):c.619G>A (p.Ala207Thr)	CCDC110 (A170T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392651	NM_152775.4(CCDC110):c.604C>T (p.Arg202Cys)	CCDC110 (R202C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316989	NM_152775.4(CCDC110):c.599T>A (p.Phe200Tyr)	CCDC110 (F163Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138257	NM_152775.4(CCDC110):c.515T>G (p.Leu172Arg)	CCDC110 (L135R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138256	NM_152775.4(CCDC110):c.499G>A (p.Glu167Lys)	CCDC110 (E167K +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3138255	NM_152775.4(CCDC110):c.388A>G (p.Ser130Gly)	CCDC110 (S93G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391652	NM_152775.4(CCDC110):c.332G>A (p.Arg111His)	CCDC110 (R111H)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3138254	NM_152775.4(CCDC110):c.263T>C (p.Leu88Ser)	CCDC110 (L88S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3138252	NM_152775.4(CCDC110):c.245C>T (p.Ser82Leu)	CCDC110 (S82L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3138251	NM_152775.4(CCDC110):c.227A>G (p.Asn76Ser)	CCDC110 (N76S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519540	NM_152775.4(CCDC110):c.212T>G (p.Met71Arg)	CCDC110 (M71R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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