3569[HGNC] - 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 154160	GRCh38/hg38 4q34.3-35.1(chr4:181762338-185175891)x1	CFAP97, ACSL1 +148 more	Copy number loss	See cases	GUncertain significance
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 148840	GRCh38/hg38 4q35.1(chr4:184573059-185237739)x3	ACSL1, CASP3 +45 more	Copy number gain	See cases	GUncertain significance
Select item 3139865	NM_001995.5(ACSL1):c.2044C>T (p.Arg682Trp)	ACSL1 (R633W +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3139862	NM_001995.5(ACSL1):c.1924G>C (p.Gly642Arg)	ACSL1 (G608R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 717920	NM_001995.5(ACSL1):c.1905C>T (p.Leu635=)	ACSL1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2259430	NM_001995.5(ACSL1):c.1846G>A (p.Gly616Arg)	ACSL1 (G552R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3139853	NM_001995.5(ACSL1):c.1726A>G (p.Ile576Val)	ACSL1 (I512V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2396165	NM_001995.5(ACSL1):c.1718T>C (p.Ile573Thr)	ACSL1 (I509T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2466068	NM_001995.5(ACSL1):c.1706C>T (p.Ala569Val)	ACSL1 (A505V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2361229	NM_001995.5(ACSL1):c.1702A>G (p.Ile568Val)	ACSL1 (I568V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3262837	NM_001995.5(ACSL1):c.1616G>A (p.Gly539Glu)	ACSL1 (G490E +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 773712	NM_001995.5(ACSL1):c.1518C>T (p.Gly506=)	ACSL1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2406583	NM_001995.5(ACSL1):c.1444G>A (p.Ala482Thr)	ACSL1 (A418T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3262832	NM_001995.5(ACSL1):c.1433G>C (p.Gly478Ala)	ACSL1 (G444A +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2516201	NM_001995.5(ACSL1):c.1429G>A (p.Ala477Thr)	ACSL1 (A413T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3262809	NM_001995.5(ACSL1):c.1396G>A (p.Gly466Arg)	ACSL1 (G466R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2239387	NM_001995.5(ACSL1):c.1388G>A (p.Cys463Tyr)	ACSL1 (C399Y +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2325235	NM_001995.5(ACSL1):c.1343C>T (p.Ala448Val)	ACSL1 (A399V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2615222	NM_001995.5(ACSL1):c.1331C>T (p.Thr444Met)	ACSL1 (T444M +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3139789	NM_001995.5(ACSL1):c.1303G>A (p.Ala435Thr)	ACSL1 (A386T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3262817	NM_001995.5(ACSL1):c.1285C>T (p.Arg429Trp)	ACSL1 (R365W +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3262800	NM_001995.5(ACSL1):c.1265C>T (p.Ser422Leu)	ACSL1 (S358L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2489078	NM_001995.5(ACSL1):c.1225A>C (p.Asn409His)	ACSL1 (N375H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3262804	NM_001995.5(ACSL1):c.1150A>G (p.Thr384Ala)	ACSL1 (T335A +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2368738	NM_001995.5(ACSL1):c.1127G>A (p.Arg376Gln)	ACSL1 (R312Q +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2308200	NM_001995.5(ACSL1):c.989T>C (p.Val330Ala)	ACSL1 (V281A +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3139914	NM_001995.5(ACSL1):c.877A>G (p.Ile293Val)	ACSL1 (I229V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3139910	NM_001995.5(ACSL1):c.872G>A (p.Arg291Gln)	ACSL1 (R257Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3139900	NM_001995.5(ACSL1):c.769G>A (p.Ala257Thr)	ACSL1 (A257T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2620208	NM_001995.5(ACSL1):c.717G>C (p.Gln239His)	ACSL1 (Q190H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2213437	NM_001995.5(ACSL1):c.710G>A (p.Arg237Gln)	ACSL1 (R203Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2404201	NM_001995.5(ACSL1):c.692G>T (p.Gly231Val)	ACSL1 (G182V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3262823	NM_001995.5(ACSL1):c.691G>A (p.Gly231Ser)	ACSL1 (G231S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 787616	NM_001995.5(ACSL1):c.627A>G (p.Leu209=)	ACSL1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2219173	NM_001995.5(ACSL1):c.523G>A (p.Val175Ile)	ACSL1 (V175I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2358347	NM_001995.5(ACSL1):c.521T>G (p.Ile174Ser)	ACSL1 (I125S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2454478	NM_001995.5(ACSL1):c.434C>T (p.Ala145Val)	ACSL1 (A96V +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2541962	NM_001995.5(ACSL1):c.430A>G (p.Thr144Ala)	ACSL1 (T80A +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3139869	NM_001995.5(ACSL1):c.218C>G (p.Ser73Cys)	ACSL1 (S9C +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2242184	NM_001995.5(ACSL1):c.148C>G (p.Pro50Ala)	ACSL1 (P50A)	Single nucleotide variant (missense variant +3 more)	not specified	GLikely benign
Select item 2655208	NM_001995.5(ACSL1):c.132C>T (p.Tyr44=)	ACSL1	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 3139902	NM_001995.5(ACSL1):c.77C>T (p.Pro26Leu)	ACSL1 (P26L)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3139887	NM_001995.5(ACSL1):c.67C>A (p.Arg23Ser)	ACSL1 (R23S)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3139884	NM_001995.5(ACSL1):c.64G>A (p.Val22Met)	ACSL1 (V22M)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3062804	GRCh37/hg19 4q27-35.2(chr4:123399154-190957473)x3	FAT1, FAT4 +197 more	Copy number gain	not specified	GPathogenic
Select item 3062803	GRCh37/hg19 4q32.1-35.2(chr4:161589441-190957473)x1	AADAT, ACSL1 +85 more	Copy number loss	not specified	GPathogenic
Select item 3062802	GRCh37/hg19 4q35.1(chr4:185160596-186000108)x1	ACSL1, CASP3 +4 more	Copy number loss	not specified	GUncertain significance
Select item 3062801	GRCh37/hg19 4q35.1(chr4:184752570-186308447)x3	ACSL1, CASP3 +10 more	Copy number gain	not specified	GUncertain significance
Select item 3062775	GRCh37/hg19 4q34.1-35.1(chr4:175496275-186495932)x1	ACSL1, ADAM29 +34 more	Copy number loss	not specified	GPathogenic
Select item 3062773	GRCh37/hg19 4q35.1(chr4:184577681-186368031)x3	ACSL1, ANKRD37 +16 more	Copy number gain	not specified	GUncertain significance
Select item 3062767	GRCh37/hg19 4q24-35.2(chr4:101203509-190957473)x3	AADAT, ABCE1 +286 more	Copy number gain	not specified	GPathogenic

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