ClinVar for Gene (Select 246) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 87

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3288057	NM_001140.5(ALOX15):c.1856C>G (p.Pro619Arg)	ALOX15 (P619R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288046	NM_001140.5(ALOX15):c.1151C>T (p.Pro384Leu)	ALOX15 (P384L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288035	NM_001140.5(ALOX15):c.303G>C (p.Glu101Asp)	ALOX15 (E101D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3243205	NC_000017.10:g.(?_422368)_(8285628_?)dup	FBXO39, FGF11 +209 more	Duplication	not provided	GUncertain significance
Select item 3112692	NM_001140.5(ALOX15):c.862G>A (p.Val288Ile)	ALOX15 (V288I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112659	NM_001140.5(ALOX15):c.1826A>G (p.His609Arg)	ALOX15 (H609R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112656	NM_001140.5(ALOX15):c.1546C>T (p.Pro516Ser)	ALOX15 (P516S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112651	NM_001140.5(ALOX15):c.1417C>T (p.Arg473Trp)	ALOX15 (R473W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112632	NM_001140.5(ALOX15):c.1183T>C (p.Tyr395His)	ALOX15 (Y395H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112628	NM_001140.5(ALOX15):c.1148A>G (p.His383Arg)	ALOX15 (H383R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112623	NM_001140.5(ALOX15):c.1123A>G (p.Thr375Ala)	ALOX15 (T375A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063486	GRCh37/hg19 17p13.3-11.2(chr17:525-21510992)x3	ABR, ACADVL +329 more	Copy number gain	not specified	GPathogenic
Select item 3063485	GRCh37/hg19 17p13.3-13.2(chr17:9474-6017500)x1	ABR, ALOX15 +116 more	Copy number loss	not specified	GPathogenic
Select item 2690887	NM_001140.5(ALOX15):c.1180C>T (p.Arg394Ter)	ALOX15 (R394*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2671597	Single allele	ABR, ALOX15 +80 more	Deletion	not provided	GPathogenic
Select item 2647266	NM_001140.5(ALOX15):c.471A>G (p.Leu157=)	ALOX15, LOC126862468	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2603773	NM_001140.5(ALOX15):c.808G>A (p.Gly270Arg)	ALOX15 (G270R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602472	NM_001140.5(ALOX15):c.202C>T (p.Arg68Trp)	ALOX15 (R68W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588379	NM_001140.5(ALOX15):c.82G>A (p.Gly28Ser)	ALOX15 (G28S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2579287	GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3	SAT2, SCARF1 +911 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 2556481	NM_001140.5(ALOX15):c.673G>A (p.Asp225Asn)	ALOX15, LOC126862468 (D225N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510724	NM_001140.5(ALOX15):c.1910T>C (p.Ile637Thr)	ALOX15 (I637T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495813	NM_001140.5(ALOX15):c.122C>T (p.Pro41Leu)	ALOX15 (P41L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485760	NM_001140.5(ALOX15):c.836C>G (p.Ser279Cys)	ALOX15 (S279C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396285	NM_001140.5(ALOX15):c.1396C>T (p.Arg466Trp)	ALOX15 (R466W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393119	NM_001140.5(ALOX15):c.589T>C (p.Trp197Arg)	ALOX15, LOC126862468 (W197R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362788	NM_001140.5(ALOX15):c.203G>A (p.Arg68Gln)	ALOX15 (R68Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353358	NM_001140.5(ALOX15):c.1001C>T (p.Thr334Met)	ALOX15 (T334M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349979	NM_001140.5(ALOX15):c.1684C>T (p.Arg562Trp)	ALOX15 (R562W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342539	NM_001140.5(ALOX15):c.1474G>A (p.Asp492Asn)	ALOX15 (D492N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333654	NM_001140.5(ALOX15):c.1901A>G (p.Asp634Gly)	ALOX15 (D634G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331954	NM_001140.5(ALOX15):c.1625C>T (p.Ser542Phe)	ALOX15 (S542F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325424	NM_001140.5(ALOX15):c.494G>A (p.Arg165Gln)	ALOX15, LOC126862468 (R165Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320993	NM_001140.5(ALOX15):c.271G>A (p.Glu91Lys)	ALOX15 (E91K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318043	NM_001140.5(ALOX15):c.1348C>T (p.Arg450Trp)	ALOX15 (R450W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298785	NM_001140.5(ALOX15):c.1210A>G (p.Arg404Gly)	ALOX15 (R404G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294874	NM_001140.5(ALOX15):c.1919G>A (p.Arg640Gln)	ALOX15 (R640Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265107	NM_001140.5(ALOX15):c.1621G>A (p.Ala541Thr)	ALOX15 (A541T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264902	NM_001140.5(ALOX15):c.112C>G (p.Arg38Gly)	ALOX15 (R38G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235642	NM_001140.5(ALOX15):c.1301C>T (p.Ala434Val)	ALOX15 (A434V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211971	NM_001140.5(ALOX15):c.1835A>G (p.Glu612Gly)	ALOX15 (E612G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1526562	GRCh37/hg19 17p13.2(chr17:4475016-4648525)	ALOX15, ARRB2 +5 more	Copy number loss	not specified	GUncertain significance
Select item 1526561	GRCh37/hg19 17p13.2(chr17:4113551-5023913)	ALOX15, ANKFY1 +31 more	Copy number loss	not specified	GUncertain significance
Select item 1225468	NM_001140.5(ALOX15):c.1849C>T (p.Pro617Ser)	ALOX15 (P617S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 816504	GRCh37/hg19 17p13.3-13.2(chr17:8547-5627408)x1	ABR, ALOX15 +115 more	Copy number loss	See cases	GPathogenic
Select item 815897	GRCh37/hg19 17p13.2(chr17:4245304-4581861)x3	PELP1, SMTNL2 +6 more	Copy number gain	not provided	GUncertain significance
Select item 815896	GRCh37/hg19 17p13.2(chr17:3933998-4581861)x3	GGT6, MYBBP1A +9 more	Copy number gain	not provided	GUncertain significance
Select item 786301	NM_001140.5(ALOX15):c.1695G>A (p.Pro565=)	ALOX15	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 780391	NM_001140.5(ALOX15):c.1044C>A (p.Arg348=)	ALOX15	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 777095	NM_001140.5(ALOX15):c.1418+9A>G	ALOX15	Single nucleotide variant	not provided	GBenign
Select item 742473	NM_001140.5(ALOX15):c.1277T>G (p.Val426Gly)	ALOX15 (V426G)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 730349	NM_001140.5(ALOX15):c.309C>G (p.Asn103Lys)	ALOX15 (N103K)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 730348	NM_001140.5(ALOX15):c.614G>A (p.Arg205Gln)	ALOX15, LOC126862468 (R205Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 727866	NM_001140.5(ALOX15):c.1941C>G (p.Pro647=)	ALOX15	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 722031	NM_001140.5(ALOX15):c.886C>T (p.Leu296=)	ALOX15	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 717665	NM_001140.5(ALOX15):c.1807A>G (p.Met603Val)	ALOX15 (M603V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 717383	NM_001140.5(ALOX15):c.268G>C (p.Asp90His)	ALOX15 (D90H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 710975	NM_001140.5(ALOX15):c.1803C>T (p.Pro601=)	ALOX15	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 688934	GRCh37/hg19 17p13.2(chr17:3759126-6128911)x1	ALOX15, ANKFY1 +48 more	Copy number loss	not provided	GUncertain significance
Select item 625578	GRCh37/hg19 17p13.3-13.2(chr17:47546-6287620)	ABR, ALOX15 +115 more	Copy number gain	Chromosome 17P13.3, telomeric, duplication syndrome	GPathogenic
Select item 624559	NM_001140.5(ALOX15):c.1679C>T (p.Thr560Met)	ALOX15 (T560M)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 587420	NM_001140.5(ALOX15):c.305G>T (p.Gly102Val)	ALOX15 (G102V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 564393	GRCh37/hg19 17p13.2(chr17:4475016-4884701)x3	ARRB2, MINK1 +20 more	Copy number gain	not provided	GUncertain significance
Select item 564392	GRCh37/hg19 17p13.2(chr17:4036861-5174346)x3	CXCL16, SLC52A1 +36 more	Copy number gain	not provided	GUncertain significance
Select item 564377	GRCh37/hg19 17p13.3-12(chr17:525-11186432)x3	ABR, ACADVL +240 more	Copy number gain	not provided	GPathogenic
Select item 443659	GRCh37/hg19 17p13.3-12(chr17:525-15027737)x3	ABR, ACADVL +250 more	Copy number gain	See cases	GPathogenic
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic
Select item 395716	GRCh37/hg19 17p13.3-13.1(chr17:1113102-6742486)	AIPL1, ALOX15 +115 more	Copy number gain	See cases	GPathogenic
Select item 394425	GRCh37/hg19 17p13.2(chr17:4442248-4544930)x3	ALOX15, GGT6 +3 more	Copy number gain	See cases	GUncertain significance
Select item 155206	GRCh38/hg38 17p13.2(chr17:4378892-4687204)x1	ALOX15, GGT6 +26 more	Copy number loss	See cases	GUncertain significance
Select item 154947	GRCh38/hg38 17p13.2(chr17:4141725-4873241)x3	ALOX15, ANKFY1 +70 more	Copy number gain	See cases	GUncertain significance
Select item 154089	GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3	ABR, ABR-AS1 +962 more	Copy number gain	See cases	GPathogenic
Select item 153733	GRCh38/hg38 17p13.2(chr17:3928523-4637233)x3	ALOX15, ANKFY1 +42 more	Copy number gain	See cases	GLikely benign
Select item 153177	GRCh38/hg38 17p13.3-13.2(chr17:150732-5935377)x1	ABR, ABR-AS1 +463 more	Copy number loss	See cases	GPathogenic
Select item 153060	GRCh38/hg38 17p13.3-13.2(chr17:237248-4735533)x1	LOC130059930, LOC130059931 +352 more	Copy number loss	See cases	GPathogenic
Select item 150854	GRCh38/hg38 17p13.2(chr17:4092608-5354473)x3	ALOX15, ANKFY1 +141 more	Copy number gain	See cases	GLikely benign
Select item 149531	GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3	LOC130059883, LOC130059884 +922 more	Copy number gain	See cases	GPathogenic
Select item 149158	GRCh38/hg38 17p13.3-13.1(chr17:162016-7697012)x1	TRARG1, TRPV1 +651 more	Copy number loss	See cases	GPathogenic
Select item 148440	GRCh38/hg38 17p13.2(chr17:4141725-4778120)x1	ALOX15, ANKFY1 +57 more	Copy number loss	See cases	GUncertain significance
Select item 147907	GRCh38/hg38 17p13.2(chr17:4289368-4634221)x3	ALOX15, GGT6 +19 more	Copy number gain	See cases	GUncertain significance
Select item 146235	GRCh38/hg38 17p13.2(chr17:4044302-5943772)x1	ALOX15, ANKFY1 +166 more	Copy number loss	See cases	GLikely pathogenic
Select item 145642	GRCh38/hg38 17p13.3-13.1(chr17:198748-7491129)x3	LOC130059937, LOC130059938 +604 more	Copy number gain	See cases	GPathogenic
Select item 144699	GRCh38/hg38 17p13.3-13.1(chr17:162088-6959050)x1	ABR, ABR-AS1 +498 more	Copy number loss	See cases	GPathogenic
Select item 144239	GRCh38/hg38 17p13.3-13.2(chr17:2062380-5258340)x1	CAMKK1, CAMTA2 +303 more	Copy number loss	See cases	GPathogenic
Select item 59563	GRCh38/hg38 17p13.2-13.1(chr17:3601515-7178024)x1	AIPL1, ALOX12 +290 more	Copy number loss	See cases	GPathogenic
Select item 59542	GRCh38/hg38 17p13.3-13.2(chr17:193307-5652222)x1	LOC121848004, LOC121848005 +457 more	Copy number loss	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 87