ClinVar for Gene (Select 242) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3384712	NM_001139.3(ALOX12B):c.1662dup (p.Arg555Ter)	ALOX12B (R555*)	Duplication (nonsense)	Lamellar ichthyosis	GPathogenic
Select item 3383156	NM_001139.3(ALOX12B):c.1798C>T (p.Arg600Trp)	ALOX12B (R600W)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 2	GUncertain significance
Select item 3382652	NM_001139.3(ALOX12B):c.802T>C (p.Tyr268His)	ALOX12B, LOC130060196 (Y268H)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 2	GUncertain significance
Select item 3382516	NM_001139.3(ALOX12B):c.1693C>T (p.Arg565Ter)	ALOX12B (R565*)	Single nucleotide variant (nonsense)	Autosomal recessive congenital ichthyosis 2	GPathogenic
Select item 3374962	NM_001139.3(ALOX12B):c.324C>G (p.Tyr108Ter)	ALOX12B (Y108*)	Single nucleotide variant (nonsense)	Lamellar ichthyosis	GPathogenic
Select item 3366535	NM_001139.3(ALOX12B):c.352+2T>G	ALOX12B	Single nucleotide variant (splice donor variant)	Lamellar ichthyosis	GLikely pathogenic
Select item 3364565	NM_001139.3(ALOX12B):c.284G>A (p.Arg95His)	ALOX12B (R95H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3355800	NM_001139.3(ALOX12B):c.1350G>T (p.Gly450=)	ALOX12B	Single nucleotide variant (synonymous variant)	ALOX12B-related disorder	GLikely benign
Select item 3337000	NM_001139.3(ALOX12B):c.1878C>A (p.Cys626Ter)	ALOX12B (C626*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 3288024	NM_001139.3(ALOX12B):c.503G>A (p.Arg168Lys)	ALOX12B (R168K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3288013	NM_001139.3(ALOX12B):c.202C>T (p.Arg68Cys)	ALOX12B (R68C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3288004	NM_001139.3(ALOX12B):c.823G>T (p.Gly275Cys)	ALOX12B, LOC130060196 (G275C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3287993	NM_001139.3(ALOX12B):c.1726G>C (p.Ala576Pro)	ALOX12B (A576P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3287982	NM_001139.3(ALOX12B):c.1318A>G (p.Ile440Val)	ALOX12B (I440V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3243205	NC_000017.10:g.(?_422368)_(8285628_?)dup	FBXO39, FGF11 +209 more	Duplication	not provided	GUncertain significance
Select item 3243137	NC_000017.10:g.(?_7977838)_(7979010_?)del	ALOX12B	Deletion	not provided	GLikely pathogenic
Select item 3233798	NM_001139.3(ALOX12B):c.1448A>G (p.Asn483Ser)	ALOX12B (N483S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112616	NM_001139.3(ALOX12B):c.898G>A (p.Glu300Lys)	ALOX12B, LOC130060195 (E300K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3112613	NM_001139.3(ALOX12B):c.858G>T (p.Lys286Asn)	ALOX12B (K286N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3112612	NM_001139.3(ALOX12B):c.832C>T (p.Arg278Cys)	ALOX12B, LOC130060196 (R278C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3112602	NM_001139.3(ALOX12B):c.638G>T (p.Arg213Leu)	ALOX12B (R213L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3112599	NM_001139.3(ALOX12B):c.55C>T (p.Arg19Trp)	ALOX12B (R19W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3112597	NM_001139.3(ALOX12B):c.2066A>G (p.Tyr689Cys)	ALOX12B (Y689C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3112593	NM_001139.3(ALOX12B):c.2012A>G (p.Gln671Arg)	ALOX12B (Q671R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3112590	NM_001139.3(ALOX12B):c.1655G>A (p.Gly552Asp)	ALOX12B (G552D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3112581	NM_001139.3(ALOX12B):c.1295G>A (p.Arg432Gln)	ALOX12B (R432Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3112579	NM_001139.3(ALOX12B):c.1001A>G (p.Gln334Arg)	ALOX12B (Q334R)	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 3043421	NM_001139.3(ALOX12B):c.1431C>T (p.Asp477=)	ALOX12B	Single nucleotide variant (synonymous variant)	ALOX12B-related disorder	GLikely benign
Select item 3021156	NM_001139.3(ALOX12B):c.799dup (p.Gln267fs)	ALOX12B, LOC130060196 (Q267fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 3020902	NM_001139.3(ALOX12B):c.528-18C>G	ALOX12B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2990100	NM_001139.3(ALOX12B):c.180C>T (p.Asp60=)	ALOX12B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2970557	NM_001139.3(ALOX12B):c.1655-13C>T	ALOX12B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2956106	NM_001139.3(ALOX12B):c.1927-17G>C	ALOX12B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2918994	NM_001139.3(ALOX12B):c.1329C>T (p.Ala443=)	ALOX12B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2872870	NM_001139.3(ALOX12B):c.1462C>T (p.Arg488Cys)	ALOX12B (R488C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2862320	NM_001139.3(ALOX12B):c.735C>T (p.Gly245=)	ALOX12B	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2838899	NM_001139.3(ALOX12B):c.527+3A>C	ALOX12B	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2832883	NM_001139.3(ALOX12B):c.1693del (p.Arg565fs)	ALOX12B (R565fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2816422	NM_001139.3(ALOX12B):c.1517G>A (p.Trp506Ter)	ALOX12B (W506*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2797660	NM_001139.3(ALOX12B):c.1018dup (p.Leu340fs)	ALOX12B (L340fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2753238	NM_001139.3(ALOX12B):c.2088G>C (p.Glu696Asp)	ALOX12B (E696D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2731629	NM_001139.3(ALOX12B):c.1615G>A (p.Glu539Lys)	ALOX12B (E539K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2671586	Single allele	TMEM88, TRG-GCC2-6 +31 more	Duplication	not provided	GUncertain significance
Select item 2633169	NM_001139.3(ALOX12B):c.212_213del (p.Lys71fs)	ALOX12B (K71fs)	Deletion (frameshift variant)	ALOX12B-related disorder	GLikely pathogenic
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 2574891	NM_001139.3(ALOX12B):c.214G>A (p.Glu72Lys)	ALOX12B (E72K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2508083	NM_001139.3(ALOX12B):c.1573G>A (p.Ala525Thr)	ALOX12B (A525T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2506499	NM_001139.3(ALOX12B):c.1235C>A (p.Ala412Asp)	ALOX12B (A412D)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 2	GUncertain significance
Select item 2423822	NC_000017.10:g.(?_7976089)_(7977095_?)del	ALOX12B	Deletion	not provided	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, ALOXE3 +66 more	Deletion	Li-Fraumeni syndrome	GPathogenic
Select item 2422546	NC_000017.10:g.(?_7906366)_(8027402_?)dup	ALOX12B, ALOX15B +7 more	Duplication	Cone-rod dystrophy 6 +1 more	GUncertain significance
Select item 2422139	NC_000017.10:g.(?_7123304)_(8193254_?)del	ACADVL, ACAP1 +69 more	Deletion	Very long chain acyl-CoA dehydrogenase deficiency	GPathogenic
Select item 2408923	NM_001139.3(ALOX12B):c.287T>C (p.Ile96Thr)	ALOX12B (I96T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2391041	NM_001139.3(ALOX12B):c.1406G>A (p.Arg469Gln)	ALOX12B (R469Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2330876	NM_001139.3(ALOX12B):c.203G>A (p.Arg68His)	ALOX12B (R68H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2308820	NM_001139.3(ALOX12B):c.620C>A (p.Thr207Lys)	ALOX12B (T207K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2286274	NM_001139.3(ALOX12B):c.1345G>C (p.Gly449Arg)	ALOX12B (G449R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2283736	NM_001139.3(ALOX12B):c.1941C>G (p.His647Gln)	ALOX12B (H647Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2274592	NM_001139.3(ALOX12B):c.664A>G (p.Lys222Glu)	ALOX12B (K222E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2258435	NM_001139.3(ALOX12B):c.634G>T (p.Val212Phe)	ALOX12B (V212F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2181714	NM_001139.3(ALOX12B):c.1303G>A (p.Val435Ile)	ALOX12B (V435I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2155126	NM_001139.3(ALOX12B):c.831C>T (p.Ile277=)	ALOX12B, LOC130060196	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2092979	NM_001139.3(ALOX12B):c.1290T>A (p.His430Gln)	ALOX12B (H430Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2052334	NM_001139.3(ALOX12B):c.1273A>T (p.Lys425Ter)	ALOX12B (K425*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2030744	NM_001139.3(ALOX12B):c.1463G>C (p.Arg488Pro)	ALOX12B (R488P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2028493	NM_001139.3(ALOX12B):c.1984_1986dup (p.Ile662_Glu663insIle)	ALOX12B	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 2009766	NM_001139.3(ALOX12B):c.1793C>T (p.Ser598Phe)	ALOX12B (S598F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1958059	NM_001139.3(ALOX12B):c.326A>C (p.Glu109Ala)	ALOX12B (E109A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1949169	NM_001139.3(ALOX12B):c.1375G>A (p.Gly459Ser)	ALOX12B (G459S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1927590	NM_001139.3(ALOX12B):c.603C>A (p.Arg201=)	ALOX12B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1927584	NM_001139.3(ALOX12B):c.1655-7C>G	ALOX12B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1908451	NM_001139.3(ALOX12B):c.755-13G>T	ALOX12B, LOC130060196	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1908100	NM_001139.3(ALOX12B):c.1572C>T (p.Asp524=)	ALOX12B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1878264	NM_001139.3(ALOX12B):c.1071+2T>C	ALOX12B	Single nucleotide variant (splice donor variant)	Lamellar ichthyosis	GLikely pathogenic
Select item 1809151	GRCh37/hg19 17p13.1(chr17:7381537-8068400)x3	ALOX12B, ALOX15B +37 more	Copy number gain	not provided	GUncertain significance
Select item 1806761	NM_001139.3(ALOX12B):c.347C>A (p.Ala116Asp)	ALOX12B (A116D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1714842	NM_001139.3(ALOX12B):c.809A>G (p.Asn270Ser)	ALOX12B, LOC130060196 (N270S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1696171	NM_001139.3(ALOX12B):c.56G>A (p.Arg19Gln)	ALOX12B (R19Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1606297	NM_001139.3(ALOX12B):c.1229G>T (p.Cys410Phe)	ALOX12B (C410F)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
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 1526047	NM_001139.3(ALOX12B):c.1625_1626del (p.Lys542fs)	ALOX12B (K542fs)	Deletion (frameshift variant)	Autosomal recessive congenital ichthyosis 2	GPathogenic
Select item 1438249	NM_001139.3(ALOX12B):c.1785_1790del (p.Phe595_Ala597delinsLeu)	ALOX12B	Deletion (inframe_indel)	not provided	GPathogenic
Select item 1428614	NM_001139.3(ALOX12B):c.982G>A (p.Glu328Lys)	ALOX12B (E328K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1398067	NM_001139.3(ALOX12B):c.1158dup (p.Tyr387fs)	ALOX12B (Y387fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1391509	NM_001139.3(ALOX12B):c.1349G>C (p.Gly450Ala)	ALOX12B (G450A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1380312	NM_001139.3(ALOX12B):c.1926+1G>A	ALOX12B	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1376044	NC_000017.10:g.(?_7571752)_(8135555_?)del	ALOX12B, CHD3 +26 more	Deletion	Li-Fraumeni syndrome	GPathogenic
Select item 1303494	NM_001139.3(ALOX12B):c.1412T>C (p.Leu471Pro)	ALOX12B (L471P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1302898	NM_001139.3(ALOX12B):c.877A>G (p.Met293Val)	ALOX12B (M293V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1299650	NM_001139.3(ALOX12B):c.805C>T (p.Leu269Phe)	ALOX12B, LOC130060196 (L269F)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 2	GLikely pathogenic
Select item 1292220	NM_001139.3(ALOX12B):c.927+110C>T	ALOX12B, LOC130060195	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1292216	NM_001139.3(ALOX12B):c.148-67dup	ALOX12B	Duplication (intron variant)	not provided	GBenign
Select item 1287092	NM_001139.3(ALOX12B):c.1275+108_1275+118del	ALOX12B	Deletion (intron variant)	not provided	GBenign
Select item 1285482	NM_001139.3(ALOX12B):c.1144A>G (p.Lys382Glu)	ALOX12B (K382E)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 2	GUncertain significance
Select item 1282488	NM_001139.3(ALOX12B):c.927+75C>T	ALOX12B, LOC130060195	Single nucleotide variant (intron variant)	not provided	GBenign

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