ClinVar for Gene (Select 391723) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 3062804	GRCh37/hg19 4q27-35.2(chr4:123399154-190957473)x3	FAM149A, FAM218A +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	SPATA18, SPATA4 +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 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 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 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 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 2570555	NM_001300781.2(HELT):c.86G>A (p.Cys29Tyr)	HELT (C29Y)	Single nucleotide variant (missense 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 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 2540966	NM_001300781.2(HELT):c.133-88C>A	HELT	Single nucleotide variant (intron variant)	not specified	GUncertain significance
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 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 2411685	NM_001300781.2(HELT):c.133-17C>T	HELT	Single nucleotide variant (intron 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 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 2325453	NM_001300781.2(HELT):c.133-21G>C	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 2279609	NM_001300781.2(HELT):c.27+68A>C	HELT	Single nucleotide variant (intron 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 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 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 2255487	NM_001300781.2(HELT):c.133-18C>G	HELT	Single nucleotide variant (intron 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 2240473	NM_001300781.2(HELT):c.27+73G>A	HELT	Single nucleotide variant (intron 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 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 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 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 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 2215665	NM_001300781.2(HELT):c.133-60G>T	HELT	Single nucleotide variant (intron 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 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
Select item 1711166	GRCh37/hg19 4q32.3-35.2(chr4:167779888-190957473)x1	AADAT, ACSL1 +69 more	Copy number loss	See cases	GPathogenic
Select item 1711100	GRCh37/hg19 4q32.1-35.2(chr4:159174483-190957473)x1	AADAT, ACSL1 +93 more	Copy number loss	See cases	GPathogenic
Select item 1710924	GRCh37/hg19 4q35.1-35.2(chr4:185211271-190957473)x1	ACSL1, ANKRD37 +26 more	Copy number loss	See cases	GPathogenic
Select item 1704649	GRCh37/hg19 4q34.1-35.2(chr4:174944132-190957473)x1	ACSL1, ADAM29 +50 more	Copy number loss	FETAL DEMISE	GPathogenic
Select item 1527143	GRCh37/hg19 4q35.1-35.2(chr4:185381293-190957473)	CFAP96, ANKRD37 +26 more	Copy number loss	not specified	GPathogenic
Select item 1527141	GRCh37/hg19 4q35.1-35.2(chr4:183221828-190957473)	ACSL1, ANKRD37 +37 more	Copy number loss	not specified	GPathogenic
Select item 1527139	GRCh37/hg19 4q34.1-35.2(chr4:175855408-190957473)	ACSL1, ADAM29 +46 more	Copy number gain	not specified	GPathogenic
Select item 1527133	GRCh37/hg19 4q32.1-35.2(chr4:159755174-190225765)	AADAT, ACSL1 +86 more	Copy number gain	not specified	GPathogenic
Select item 997081	GRCh37/hg19 4q34.3-35.2(chr4:179554876-190916678)	ACSL1, ANKRD37 +36 more	Copy number loss	Overgrowth +1 more	GLikely pathogenic
Select item 980716	GRCh37/hg19 4q35.1(chr4:185745161-186099203)x3	ACSL1, CFAP97 +2 more	Copy number gain	not provided	GUncertain significance
Select item 814642	GRCh37/hg19 4q35.1(chr4:185874622-186167917)x3	CFAP97, HELT +2 more	Copy number gain	not provided	GUncertain significance
Select item 814641	GRCh37/hg19 4q35.1-35.2(chr4:185785184-188207908)x3	ANKRD37, CCDC110 +16 more	Copy number gain	not provided	GUncertain significance
Select item 814640	GRCh37/hg19 4q35.1(chr4:185779167-186206723)x3	CFAP97, HELT +2 more	Copy number gain	not provided	GUncertain significance
Select item 814637	GRCh37/hg19 4q34.3-35.2(chr4:179752903-187987047)x3	ACSL1, ANKRD37 +32 more	Copy number gain	not provided	GPathogenic
Select item 814636	GRCh37/hg19 4q34.3-35.2(chr4:178566256-190957473)x1	ACSL1, ANKRD37 +37 more	Copy number loss	not provided	GPathogenic
Select item 814622	GRCh37/hg19 4q32.3-35.2(chr4:165010461-190957473)x1	AADAT, ACSL1 +79 more	Copy number loss	not provided	GPathogenic
Select item 809725	GRCh37/hg19 4q35.1-35.2(chr4:183245174-190948359)x1	FAM149A, FAT1 +37 more	Copy number loss	not provided	GLikely pathogenic
Select item 689174	GRCh37/hg19 4q34.3-35.2(chr4:179996712-190957473)x1	ACSL1, ANKRD37 +37 more	Copy number loss	not provided	GPathogenic
Select item 688505	GRCh37/hg19 4q35.1(chr4:185399884-186542127)x3	ACSL1, ANKRD37 +13 more	Copy number gain	not provided	GUncertain significance
Select item 688407	GRCh37/hg19 4q31.3-35.2(chr4:151174061-190957473)x3	AADAT, ACSL1 +131 more	Copy number gain	not provided	GPathogenic
Select item 686652	GRCh37/hg19 4q32.3-35.2(chr4:169607746-190957473)x3	AGA, ANKRD37 +65 more	Copy number gain	not provided	GPathogenic
Select item 685560	GRCh37/hg19 4q34.2-35.2(chr4:177189906-190816266)x1	ACSL1, AGA +40 more	Copy number loss	not provided	GPathogenic
Select item 685477	GRCh37/hg19 4q35.1-35.2(chr4:184648532-190957473)x1	FAT1, FRG1 +28 more	Copy number loss	not provided	GPathogenic
Select item 685014	GRCh37/hg19 4q32.3-35.2(chr4:166623890-190957473)x1	AADAT, ACSL1 +70 more	Copy number loss	not provided	GPathogenic
Select item 625785	GRCh37/hg19 4q34.1-35.2(chr4:174610492-190427545)	ACSL1, ADAM29 +48 more	Copy number loss	not provided	GPathogenic
Select item 625665	GRCh37/hg19 4q33-35.2(chr4:171663620-190431429)	ACSL1, ADAM29 +54 more	Copy number loss	not provided	GPathogenic
Select item 563008	GRCh37/hg19 4q35.1-35.2(chr4:185017749-190957473)x3	ACSL1, ANKRD37 +27 more	Copy number gain	not provided	GPathogenic
Select item 563006	GRCh37/hg19 4q34.3-35.2(chr4:178771936-190957473)x3	ACSL1, ANKRD37 +37 more	Copy number gain	not provided	GPathogenic
Select item 563004	GRCh37/hg19 4q34.2-35.2(chr4:176493246-190957473)x1	ACSL1, AGA +45 more	Copy number loss	not provided	GPathogenic
Select item 563003	GRCh37/hg19 4q34.1-35.2(chr4:175709188-190957473)x1	ACSL1, ADAM29 +47 more	Copy number loss	not provided	GPathogenic
Select item 562995	GRCh37/hg19 4q32.3-35.2(chr4:169969014-190957473)x1	AADAT, ACSL1 +63 more	Copy number loss	not provided	GPathogenic
Select item 562989	GRCh37/hg19 4q32.1-35.2(chr4:159492464-190957473)x3	CFAP96, CFAP97 +92 more	Copy number gain	not provided	GPathogenic
Select item 560041	Single allele	ACSL1, AGA +43 more	Deletion	not provided	GPathogenic
Select item 443800	GRCh37/hg19 4q32.1-35.2(chr4:156465633-190957473)x3	AADAT, ACSL1 +102 more	Copy number gain	See cases	GPathogenic
Select item 443483	GRCh37/hg19 4q22.1-35.2(chr4:93071152-190957473)x3	AADAT, ABCE1 +314 more	Copy number gain	See cases	GPathogenic
Select item 443385	GRCh37/hg19 4q32.3-35.2(chr4:166436844-190957473)x3	AADAT, ACSL1 +70 more	Copy number gain	See cases	GPathogenic
Select item 443369	GRCh37/hg19 4q34.2-35.2(chr4:176306103-190957473)x3	ACSL1, AGA +45 more	Copy number gain	See cases	GPathogenic
Select item 443064	GRCh37/hg19 4q35.1-35.2(chr4:184852835-190957473)x1	ACSL1, ANKRD37 +28 more	Copy number loss	See cases	GLikely pathogenic
Select item 442869	GRCh37/hg19 4q34.3-35.2(chr4:180702769-190957473)x3	ACSL1, ANKRD37 +37 more	Copy number gain	See cases	GPathogenic
Select item 442514	GRCh37/hg19 4q25-35.2(chr4:109199664-189752726)x3	LRBA, LRIT3 +255 more	Copy number gain	See cases	GPathogenic
Select item 441943	GRCh37/hg19 4q35.1(chr4:184870144-186592638)x3	ACSL1, ANKRD37 +16 more	Copy number gain	See cases	GLikely benign
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	C4orf51, CABS1 +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	NAA11, NAA15 +745 more	Copy number gain	See cases	GPathogenic
Select item 441562	GRCh37/hg19 4q31.3-35.2(chr4:153890440-190957473)x3	AADAT, ACSL1 +118 more	Copy number gain	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	HELT, HERC3 +744 more	Copy number gain	See cases	GPathogenic
Select item 394376	GRCh37/hg19 4q35.1-35.2(chr4:185253508-190713591)x1	LRP2BP, TRIML1 +24 more	Copy number loss	See cases	GPathogenic
Select item 394092	GRCh37/hg19 4q35.1(chr4:183959053-186858555)x3	ACSL1, ANKRD37 +23 more	Copy number gain	See cases	GUncertain significance
Select item 394000	GRCh37/hg19 4q35.1(chr4:185787209-186451149)x3	ANKRD37, CCDC110 +8 more	Copy number gain	See cases	GLikely benign
Select item 253676	GRCh37/hg19 4q35.1-35.2(chr4:185941418-189180194)x1	ANKRD37, CCDC110 +19 more	Copy number loss	See cases	GPathogenic
Select item 253606	GRCh37/hg19 4q26-35.2(chr4:119437495-190904301)x3	AADAT, ABCE1 +218 more	Copy number gain	See cases	GPathogenic
Select item 253508	GRCh37/hg19 4q34.1-35.2(chr4:176270886-190713650)x1	ACSL1, AGA +43 more	Copy number loss	See cases	GPathogenic
Select item 253406	GRCh37/hg19 4q34.3-35.2(chr4:178243625-190713650)x1	ACSL1, AGA +37 more	Copy number loss	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 155559	GRCh38/hg38 4q34.3-35.2(chr4:176756632-189621964)x1	ACSL1, AGA +293 more	Copy number loss	See cases	GLikely pathogenic

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