ALOX12[gene] - ClinVar

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

Search results

Items: 75

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154089	GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3	LOC130060143, LOC130060144 +963 more	Copy number gain	See cases	GPathogenic
Select item 149531	GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3	MIR6883, MIR744 +923 more	Copy number gain	See cases	GPathogenic
Select item 149158	GRCh38/hg38 17p13.3-13.1(chr17:162016-7697012)x1	ABR, ABR-AS1 +652 more	Copy number loss	See cases	GPathogenic
Select item 2579287	GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3	LOC130060077, LOC130060078 +911 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 145642	GRCh38/hg38 17p13.3-13.1(chr17:198748-7491129)x3	YWHAE, ZBTB4 +605 more	Copy number gain	See cases	GPathogenic
Select item 59563	GRCh38/hg38 17p13.2-13.1(chr17:3601515-7178024)x1	LOC130060037, LOC130060038 +291 more	Copy number loss	See cases	GPathogenic
Select item 145484	GRCh38/hg38 17p13.2-12(chr17:5732953-12095349)x3	LOC126862500, LOC126862501 +461 more	Copy number gain	See cases	GPathogenic
Select item 57356	GRCh38/hg38 17p13.2-13.1(chr17:5732977-8038822)x1	ACADVL, ACAP1 +229 more	Copy number loss	See cases	GPathogenic
Select item 149166	GRCh38/hg38 17p13.2-13.1(chr17:6361393-7750863)x3	ACADVL, ACAP1 +182 more	Copy number gain	See cases	GLikely pathogenic
Select item 150350	GRCh38/hg38 17p13.1(chr17:6891357-7264234)x3	ACADVL, ALOX12 +53 more	Copy number gain	See cases	GUncertain significance
Select item 144281	GRCh38/hg38 17p13.1(chr17:6958978-7491129)x3	ACADVL, ACAP1 +106 more	Copy number gain	See cases	GUncertain significance
Select item 1269983	NC_000017.11:g.6995799C>T	ALOX12, ALOX12-AS1	Single nucleotide variant	not provided	GBenign
Select item 1178415	NC_000017.11:g.6995902G>A	ALOX12, ALOX12-AS1	Single nucleotide variant	not provided	GBenign
Select item 1269497	NM_000697.3(ALOX12):c.123C>G (p.Pro41=)	ALOX12, ALOX12-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1235859	NM_000697.3(ALOX12):c.135+58C>T	ALOX12, ALOX12-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1182711	NM_000697.3(ALOX12):c.135+160T>C	ALOX12-AS1, ALOX12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1220801	NM_000697.3(ALOX12):c.136-69G>A	ALOX12, ALOX12-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2287353	NM_000697.3(ALOX12):c.275T>C (p.Val92Ala)	ALOX12, ALOX12-AS1 (V92A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1289083	NM_000697.3(ALOX12):c.337+16C>T	ALOX12, ALOX12-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1224924	NM_000697.3(ALOX12):c.337+37T>C	ALOX12, ALOX12-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262015	NM_000697.3(ALOX12):c.337+98T>G	ALOX12, ALOX12-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277668	NM_000697.3(ALOX12):c.338-156G>A	ALOX12, ALOX12-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2230942	NM_000697.3(ALOX12):c.340C>T (p.Arg114Cys)	ALOX12-AS1, ALOX12 (R114C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2647316	NM_000697.3(ALOX12):c.349G>C (p.Gly117Arg)	ALOX12, ALOX12-AS1 (G117R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2537580	NM_000697.3(ALOX12):c.395T>G (p.Leu132Arg)	ALOX12, ALOX12-AS1 (L132R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2467649	NM_000697.3(ALOX12):c.404G>A (p.Arg135Lys)	ALOX12, ALOX12-AS1 (R135K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1262104	NM_000697.3(ALOX12):c.542+23G>A	ALOX12, ALOX12-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 791340	NM_000697.3(ALOX12):c.566G>A (p.Arg189His)	ALOX12, ALOX12-AS1 (R189H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1178469	NM_000697.3(ALOX12):c.646+84T>C	ALOX12-AS1, ALOX12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2381381	NM_000697.3(ALOX12):c.728G>A (p.Arg243His)	ALOX12-AS1, ALOX12 (R243H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1259628	NM_000697.3(ALOX12):c.765G>A (p.Ser255=)	ALOX12, ALOX12-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1224614	NM_000697.3(ALOX12):c.782A>G (p.Gln261Arg)	ALOX12, ALOX12-AS1 (Q261R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2479149	NM_000697.3(ALOX12):c.797A>G (p.Lys266Arg)	ALOX12, ALOX12-AS1 (K266R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1259077	NM_000697.3(ALOX12):c.807+25A>T	ALOX12-AS1, ALOX12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294133	NM_000697.3(ALOX12):c.807+102A>G	ALOX12, ALOX12-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266618	NM_000697.3(ALOX12):c.808-118G>A	ALOX12, ALOX12-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1179701	NM_000697.3(ALOX12):c.951+146G>A	ALOX12, ALOX12-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245488	NM_000697.3(ALOX12):c.951+200C>T	ALOX12, ALOX12-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233269	NM_000697.3(ALOX12):c.965A>G (p.Asn322Ser)	ALOX12, ALOX12-AS1 (N322S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2261370	NM_000697.3(ALOX12):c.966C>A (p.Asn322Lys)	ALOX12-AS1, ALOX12 (N322K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2394557	NM_000697.3(ALOX12):c.1010C>G (p.Pro337Arg)	ALOX12, ALOX12-AS1 (P337R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2647317	NM_000697.3(ALOX12):c.1029A>C (p.Ala343=)	ALOX12, ALOX12-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2514441	NM_000697.3(ALOX12):c.1091C>T (p.Thr364Ile)	ALOX12, ALOX12-AS1 (T364I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1247877	NM_000697.3(ALOX12):c.1092T>G (p.Thr364=)	ALOX12, ALOX12-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2322966	NM_000697.3(ALOX12):c.1093C>G (p.His365Asp)	ALOX12, ALOX12-AS1 (H365D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1251805	NM_000697.3(ALOX12):c.1161+228C>T	ALOX12, ALOX12-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2592950	NM_000697.3(ALOX12):c.1208C>T (p.Ala403Val)	ALOX12, ALOX12-AS1 (A403V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 783067	NM_000697.3(ALOX12):c.1211G>A (p.Arg404Gln)	ALOX12, ALOX12-AS1 (R404Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1238555	NM_000697.3(ALOX12):c.1248+241G>A	ALOX12, ALOX12-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 714724	NM_000697.3(ALOX12):c.1289G>A (p.Arg430His)	ALOX12-AS1, ALOX12 (R430H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1244882	NM_000697.3(ALOX12):c.1418+32_1418+33del	ALOX12, ALOX12-AS1	Deletion (intron variant)	not provided	GBenign
Select item 1238014	NM_000697.3(ALOX12):c.1418+32C>T	ALOX12, ALOX12-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234828	NM_000697.3(ALOX12):c.1452A>G (p.Gln484=)	ALOX12, ALOX12-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2566684	NM_000697.3(ALOX12):c.1504A>T (p.Ile502Phe)	ALOX12, ALOX12-AS1 (I502F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1230948	NM_000697.3(ALOX12):c.1540+282A>G	ALOX12, ALOX12-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263911	NM_000697.3(ALOX12):c.1540+285T>G	ALOX12, ALOX12-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248100	NM_000697.3(ALOX12):c.1541-264T>A	ALOX12, ALOX12-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222883	NM_000697.3(ALOX12):c.1541-20G>A	ALOX12, ALOX12-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2392090	NM_000697.3(ALOX12):c.1604C>T (p.Thr535Met)	ALOX12-AS1, ALOX12 (T535M)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2598722	NM_000697.3(ALOX12):c.1619A>G (p.His540Arg)	ALOX12-AS1, ALOX12 (H540R)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2534154	NM_000697.3(ALOX12):c.1796G>A (p.Arg599His)	ALOX12, ALOX12-AS1 (R599H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1276383	NM_000697.3(ALOX12):c.1902G>A (p.Leu634=)	ALOX12, ALOX12-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2398481	NM_000697.3(ALOX12):c.1988T>C (p.Ile663Thr)	ALOX12-AS1, ALOX12 (I663T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2422136	NC_000017.10:g.(?_6328780)_(7606804_?)dup	POLR2A, RNASEK +62 more	Duplication	Very long chain acyl-CoA dehydrogenase deficiency +1 more	GUncertain significance
Select item 1076973	NC_000017.10:g.(?_6589506)_(7128436_?)del	ACADVL, ALOX12 +15 more	Deletion	Very long chain acyl-CoA dehydrogenase deficiency	GPathogenic
Select item 1020704	NC_000017.10:g.(?_6328780)_(7128416_?)dup	ACADVL, AIPL1 +22 more	Duplication	Developmental and epileptic encephalopathy, 25	GUncertain significance
Select item 980123	GRCh37/hg19 17p13.1(chr17:6650649-8040151)x3	TMEM102, TNFSF12 +74 more	Copy number gain	not provided	GPathogenic
Select item 831200	NC_000017.10:g.(?_6589506)_(8151374_?)dup	KCNAB3, KCTD11 +81 more	Duplication	Dyskeratosis congenita +1 more	GUncertain significance
Select item 815900	GRCh37/hg19 17p13.1(chr17:6800893-7304696)x1	ACADVL, ACAP1 +27 more	Copy number loss	not provided	GPathogenic
Select item 689270	GRCh37/hg19 17p13.1(chr17:6826243-7311408)x3	ACADVL, ACAP1 +28 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	TNFSF12, TNFSF12-TNFSF13 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	AIPL1, AKAP1 +1143 more	Copy number gain	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

Search results

Items: 75