HELT[gene] - 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 152921	GRCh38/hg38 4q35.1-35.2(chr4:184924265-186578389)x3	ANKRD37, CCDC110 +69 more	Copy number gain	See cases	GPathogenic
Select item 2535446	NM_001300781.2(HELT):c.26A>G (p.Lys9Arg)	HELT (K9R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253957	NM_001300781.2(HELT):c.27+65G>T	HELT	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 2279609	NM_001300781.2(HELT):c.27+68A>C	HELT	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 2240473	NM_001300781.2(HELT):c.27+73G>A	HELT	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 2545039	NM_001300781.2(HELT):c.27+98C>A	HELT	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 2322276	NM_001300781.2(HELT):c.27+123A>C	HELT	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 2570555	NM_001300781.2(HELT):c.86G>A (p.Cys29Tyr)	HELT (C29Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540966	NM_001300781.2(HELT):c.133-88C>A	HELT	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 2215665	NM_001300781.2(HELT):c.133-60G>T	HELT	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 2325453	NM_001300781.2(HELT):c.133-21G>C	HELT	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 2255487	NM_001300781.2(HELT):c.133-18C>G	HELT	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 2411685	NM_001300781.2(HELT):c.133-17C>T	HELT	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 3283961	NM_001300781.2(HELT):c.202G>C (p.Ala68Pro)	HELT (A68P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342180	NM_001300781.2(HELT):c.211C>T (p.Pro71Ser)	HELT (P71S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542516	NM_001300781.2(HELT):c.238C>G (p.Leu80Val)	HELT (L80V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602917	NM_001300781.2(HELT):c.245A>T (p.Glu82Val)	HELT (E81V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105095	NM_001300781.2(HELT):c.308C>A (p.Thr103Asn)	HELT (T103N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228353	NM_001300781.2(HELT):c.320G>A (p.Arg107Gln)	HELT (R107Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105096	NM_001300781.2(HELT):c.368A>G (p.Gln123Arg)	HELT (Q123R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265216	NM_001300781.2(HELT):c.380G>T (p.Arg127Leu)	HELT (R126L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3389991	NM_001300781.2(HELT):c.390G>A (p.Ala130=)	HELT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2589127	NM_001300781.2(HELT):c.403C>G (p.Pro135Ala)	HELT (P135A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261766	NM_001300781.2(HELT):c.407C>T (p.Pro136Leu)	HELT (P135L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262135	NM_001300781.2(HELT):c.412G>A (p.Gly138Ser)	HELT (G137S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105098	NM_001300781.2(HELT):c.463G>A (p.Glu155Lys)	HELT (E154K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606746	NM_001300781.2(HELT):c.469G>T (p.Ala157Ser)	HELT (A156S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227011	NM_001300781.2(HELT):c.485G>A (p.Gly162Asp)	HELT (G161D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230838	NM_001300781.2(HELT):c.503C>G (p.Pro168Arg)	HELT (P168R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234138	NM_001300781.2(HELT):c.511T>A (p.Ser171Thr)	HELT (S171T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210569	NM_001300781.2(HELT):c.548C>T (p.Ala183Val)	HELT (A182V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608825	NM_001300781.2(HELT):c.649C>T (p.Arg217Trp)	HELT (R217W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224326	NM_001300781.2(HELT):c.704C>A (p.Thr235Lys)	HELT (T234K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338736	NM_001300781.2(HELT):c.706C>T (p.Pro236Ser)	HELT (P236S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478864	NM_001300781.2(HELT):c.714C>G (p.His238Gln)	HELT (H238Q +1 more)	Single nucleotide variant (missense variant)	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
Select item 3024634	GRCh37/hg19 4q32.3-35.2(chr4:169060637-191154276)x1	AADAT, ACSL1 +68 more	Copy number loss	not provided	GPathogenic
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	AADAT, AASDH +537 more	Copy number gain	not provided	GPathogenic
Select item 2684399	GRCh37/hg19 4q32.3-35.2(chr4:167409608-190957473)x3	AADAT, ACSL1 +69 more	Copy number gain	not provided	GPathogenic
Select item 2671582	Single allele	MTNR1A, PDLIM3 +36 more	Deletion	not provided	GPathogenic
Select item 1808796	GRCh37/hg19 4q35.1(chr4:185935020-186237904)x3	CFAP97, HELT +2 more	Copy number gain	not provided	GUncertain significance
Select item 1807820	GRCh37/hg19 4q35.1-35.2(chr4:183694501-190957473)x1	ACSL1, ANKRD37 +37 more	Copy number loss	not provided	GPathogenic
Select item 1807774	GRCh37/hg19 4q35.1-35.2(chr4:185748860-188413920)x1	ANKRD37, CCDC110 +16 more	Copy number loss	not provided	GPathogenic

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