ClinVar for Gene (Select 247) - ClinVar

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Links from Gene

Items: 90

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3112820	NM_001141.3(ALOX15B):c.896A>G (p.Gln299Arg)	ALOX15B (Q299R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3112812	NM_001141.3(ALOX15B):c.799A>G (p.Met267Val)	ALOX15B (M267V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112808	NM_001141.3(ALOX15B):c.787G>T (p.Val263Phe)	ALOX15B (V263F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112804	NM_001141.3(ALOX15B):c.783C>G (p.Phe261Leu)	ALOX15B (F261L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112792	NM_001141.3(ALOX15B):c.653A>C (p.Asn218Thr)	ALOX15B (N218T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112770	NM_001141.3(ALOX15B):c.268C>T (p.Arg90Cys)	ALOX15B (R90C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112767	NM_001141.3(ALOX15B):c.2020G>A (p.Val674Ile)	ALOX15B (V600I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112762	NM_001141.3(ALOX15B):c.1920C>G (p.Phe640Leu)	ALOX15B (F640L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112761	NM_001141.3(ALOX15B):c.1900C>T (p.Arg634Trp)	ALOX15B (R605W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112758	NM_001141.3(ALOX15B):c.1868A>G (p.Tyr623Cys)	ALOX15B (Y549C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112756	NM_001141.3(ALOX15B):c.1771A>G (p.Ile591Val)	ALOX15B (I591V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112752	NM_001141.3(ALOX15B):c.1698G>C (p.Trp566Cys)	ALOX15B (W566C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112747	NM_001141.3(ALOX15B):c.1637T>C (p.Ile546Thr)	ALOX15B (I517T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112741	NM_001141.3(ALOX15B):c.1529C>A (p.Ala510Asp)	ALOX15B (A481D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3112732	NM_001141.3(ALOX15B):c.1300G>A (p.Gly434Ser)	ALOX15B (G434S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112730	NM_001141.3(ALOX15B):c.1297A>G (p.Ile433Val)	ALOX15B (I404V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112726	NM_001141.3(ALOX15B):c.119A>G (p.Asn40Ser)	ALOX15B (N40S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112724	NM_001141.3(ALOX15B):c.1193T>C (p.Leu398Pro)	ALOX15B (L398P)	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 2671586	Single allele	TMEM88, TRG-GCC2-6 +31 more	Duplication	not provided	GUncertain significance
Select item 2615551	NM_001141.3(ALOX15B):c.1352A>G (p.Tyr451Cys)	ALOX15B (Y422C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604374	NM_001141.3(ALOX15B):c.312C>A (p.Phe104Leu)	ALOX15B (F104L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601037	NM_001141.3(ALOX15B):c.1093T>A (p.Phe365Ile)	ALOX15B (F365I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599514	NM_001141.3(ALOX15B):c.292C>T (p.Arg98Trp)	ALOX15B (R98W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2568031	NM_001141.3(ALOX15B):c.783C>A (p.Phe261Leu)	ALOX15B (F261L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554779	NM_001141.3(ALOX15B):c.502G>A (p.Glu168Lys)	ALOX15B (E168K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2552876	NM_001141.3(ALOX15B):c.506A>G (p.Asp169Gly)	ALOX15B (D169G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535376	NM_001141.3(ALOX15B):c.853G>A (p.Gly285Ser)	ALOX15B (G285S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529490	NM_001141.3(ALOX15B):c.1286G>T (p.Arg429Met)	ALOX15B (R429M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2517845	NM_001141.3(ALOX15B):c.1999C>T (p.Pro667Ser)	ALOX15B (P638S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514659	NM_001141.3(ALOX15B):c.397G>A (p.Val133Met)	ALOX15B (V133M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511094	NM_001141.3(ALOX15B):c.854G>A (p.Gly285Asp)	ALOX15B (G285D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473255	NM_001141.3(ALOX15B):c.1961G>A (p.Arg654Gln)	ALOX15B (R580Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473216	NM_001141.3(ALOX15B):c.238G>C (p.Gly80Arg)	ALOX15B (G80R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468263	NM_001141.3(ALOX15B):c.1952T>A (p.Ile651Asn)	ALOX15B (I622N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467702	NM_001141.3(ALOX15B):c.1355C>G (p.Ser452Cys)	ALOX15B (S452C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465371	NM_001141.3(ALOX15B):c.212A>T (p.Lys71Met)	ALOX15B (K71M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456198	NM_001141.3(ALOX15B):c.1871C>T (p.Pro624Leu)	ALOX15B (P550L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456082	NM_001141.3(ALOX15B):c.313C>A (p.Pro105Thr)	ALOX15B (P105T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2423280	NC_000017.10:g.(?_7571752)_(8285628_?)del	ALOX12B, ALOX15B +33 more	Deletion	Li-Fraumeni syndrome	GPathogenic
Select item 2423278	NC_000017.10:g.(?_7120455)_(8151423_?)del	ALOX15B, ACADVL +66 more	Deletion	Li-Fraumeni syndrome	GPathogenic
Select item 2422546	NC_000017.10:g.(?_7906366)_(8027402_?)dup	ALOX12B, ALOX15B +7 more	Duplication	Leber congenital amaurosis 1 +1 more	GUncertain significance
Select item 2422139	NC_000017.10:g.(?_7123304)_(8193254_?)del	NEURL4, NLGN2 +69 more	Deletion	Very long chain acyl-CoA dehydrogenase deficiency	GPathogenic
Select item 2387680	NM_001141.3(ALOX15B):c.974C>T (p.Pro325Leu)	ALOX15B (P325L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364242	NM_001141.3(ALOX15B):c.1081C>T (p.Arg361Cys)	ALOX15B (R361C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358458	NM_001141.3(ALOX15B):c.251C>G (p.Pro84Arg)	ALOX15B (P84R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353850	NM_001141.3(ALOX15B):c.1661C>T (p.Ala554Val)	ALOX15B (A480V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349697	NM_001141.3(ALOX15B):c.1574G>A (p.Ser525Asn)	ALOX15B (S496N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2334078	NM_001141.3(ALOX15B):c.1031T>G (p.Phe344Cys)	ALOX15B (F344C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332871	NM_001141.3(ALOX15B):c.109C>T (p.Pro37Ser)	ALOX15B (P37S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331462	NM_001141.3(ALOX15B):c.823G>A (p.Gly275Arg)	ALOX15B (G275R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312585	NM_001141.3(ALOX15B):c.682G>A (p.Ala228Thr)	ALOX15B (A228T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2292040	NM_001141.3(ALOX15B):c.1631T>C (p.Met544Thr)	ALOX15B (M470T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284210	NM_001141.3(ALOX15B):c.622A>G (p.Arg208Gly)	ALOX15B (R208G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271789	NM_001141.3(ALOX15B):c.97A>T (p.Ser33Cys)	ALOX15B (S33C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263646	NM_001141.3(ALOX15B):c.1025C>T (p.Pro342Leu)	ALOX15B (P342L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255680	NM_001141.3(ALOX15B):c.847G>C (p.Glu283Gln)	ALOX15B (E283Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215586	NM_001141.3(ALOX15B):c.423G>C (p.Glu141Asp)	ALOX15B (E141D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809151	GRCh37/hg19 17p13.1(chr17:7381537-8068400)x3	ALOX12B, ALOX15B +37 more	Copy number gain	not provided	GUncertain significance
Select item 1526569	GRCh37/hg19 17p13.1(chr17:7929776-9995862)	ALOX12B, ALOX15B +36 more	Copy number gain	not specified	GUncertain significance
Select item 1526568	GRCh37/hg19 17p13.1(chr17:7593552-8225803)	ALOX12B, ALOX15B +29 more	Copy number gain	not specified	GUncertain significance
Select item 1526567	GRCh37/hg19 17p13.1(chr17:7241916-8692213)	ACAP1, ALOX12B +65 more	Copy number loss	not specified	GPathogenic
Select item 1526566	GRCh37/hg19 17p13.1(chr17:7020054-8086290)	ACADVL, ACAP1 +64 more	Copy number loss	not specified	GPathogenic
Select item 1376044	NC_000017.10:g.(?_7571752)_(8135555_?)del	ALOX12B, ALOX15B +26 more	Deletion	Li-Fraumeni syndrome	GPathogenic
Select item 1035220	NC_000017.10:g.(?_7846709)_(8000124_?)dup	CNTROB, GUCY2D +3 more	Duplication	Leber congenital amaurosis 1 +1 more	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 815902	GRCh37/hg19 17p13.1(chr17:7937691-8247776)x3	BORCS6, AURKB +18 more	Copy number gain	not provided	GUncertain significance
Select item 780167	NM_001141.3(ALOX15B):c.769C>T (p.Leu257Phe)	ALOX15B (L257F)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 777126	NM_001141.3(ALOX15B):c.1904G>A (p.Arg635Gln)	ALOX15B (R635Q +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 745180	NM_001141.3(ALOX15B):c.997-6C>T	ALOX15B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 731066	NM_001141.3(ALOX15B):c.987C>T (p.Leu329=)	ALOX15B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 711528	NM_001141.3(ALOX15B):c.488A>G (p.Asp163Gly)	ALOX15B (D163G)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 687831	GRCh37/hg19 17p13.1(chr17:7676383-8350870)x3	ALOX12B, ALOX15B +32 more	Copy number gain	not provided	GUncertain significance
Select item 686605	GRCh37/hg19 17p13.1(chr17:7886069-7966284)x3	ALOX15B, GUCY2D	Copy number gain	not provided	GUncertain significance
Select item 649065	NC_000017.11:g.(?_7669599)_(8382320_?)del	ALOX12B, ALOX15B +141 more	Deletion	Li-Fraumeni syndrome	GPathogenic
Select item 587421	NM_001141.3(ALOX15B):c.1382G>A (p.Arg461Gln)	ALOX15B (R461Q +1 more)	Single nucleotide variant (missense variant)	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 523158	GRCh37/hg19 17p13.1(chr17:6934163-8217978)x1	ACADVL, ACAP1 +75 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 463365	NC_000017.11:g.(?_7669603)_(8382316_?)del	LOC112533665, LOC116276454 +141 more	Deletion	Li-Fraumeni syndrome +2 more	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 442648	GRCh37/hg19 17p13.1(chr17:7431013-9868179)x3	ALOX12B, ALOX15B +61 more	Copy number gain	See cases	GUncertain significance
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
Select item 154089	GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3	LOC130060143, LOC130060144 +963 more	Copy number gain	See cases	GPathogenic
Select item 152524	GRCh38/hg38 17p13.1(chr17:7967712-8490279)x3	LOC130060203, LOC130060204 +110 more	Copy number gain	See cases	GUncertain significance
Select item 149531	GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3	MIR6883, MIR744 +923 more	Copy number gain	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 59583	GRCh38/hg38 17p13.1(chr17:7478195-8435524)x1	ALOX12B, ALOX15B +191 more	Copy number loss	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 90