242[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 149531	GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3	LOC130059883, LOC130059884 +922 more	Copy number gain	See cases	GPathogenic
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 145484	GRCh38/hg38 17p13.2-12(chr17:5732953-12095349)x3	ACADVL, ACAP1 +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
Select item 649065	NC_000017.11:g.(?_7669599)_(8382320_?)del	LOC130060207, LOC130060208 +141 more	Deletion	Li-Fraumeni syndrome	GPathogenic
Select item 463365	NC_000017.11:g.(?_7669603)_(8382316_?)del	LOC130060232, LOC130060233 +141 more	Deletion	Li-Fraumeni syndrome +2 more	GPathogenic
Select item 152524	GRCh38/hg38 17p13.1(chr17:7967712-8490279)x3	ALOX12B, ALOX15B +110 more	Copy number gain	See cases	GUncertain significance
Select item 1277662	NC_000017.11:g.8072481del	ALOX12B	Deletion	not provided	GBenign
Select item 325866	NM_001139.3(ALOX12B):c.*118dup	ALOX12B	Duplication (3 prime UTR variant)	Congenital ichthyosiform erythroderma	GUncertain significance
Select item 325867	NM_001139.3(ALOX12B):c.*101A>G	ALOX12B	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive congenital ichthyosis 2	GUncertain significance
Select item 325868	NM_001139.3(ALOX12B):c.*66C>T	ALOX12B	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive congenital ichthyosis 2	GBenign
Select item 995478	NM_001139.3(ALOX12B):c.2094C>A (p.Ser698Arg)	ALOX12B (S698R)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 2	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 890039	NM_001139.3(ALOX12B):c.2082G>T (p.Leu694=)	ALOX12B	Single nucleotide variant (synonymous variant)	Autosomal recessive congenital ichthyosis 2	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 995726	NM_001139.3(ALOX12B):c.2064C>G (p.Tyr688Ter)	ALOX12B (Y688*)	Single nucleotide variant (nonsense)	Autosomal recessive congenital ichthyosis 2	GPathogenic
Select item 995755	NM_001139.3(ALOX12B):c.2060A>G (p.Tyr687Cys)	ALOX12B (Y687C)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 2	GPathogenic
Select item 995754	NM_001139.3(ALOX12B):c.2041A>T (p.Lys681Ter)	ALOX12B (K681*)	Single nucleotide variant (nonsense)	Autosomal recessive congenital ichthyosis 2	GPathogenic
Select item 995484	NM_001139.3(ALOX12B):c.2005_2037dup (p.Leu669_Arg679dup)	ALOX12B	Duplication (inframe_insertion)	Autosomal recessive congenital ichthyosis 2	GPathogenic
Select item 995721	NM_001139.3(ALOX12B):c.2036G>A (p.Arg679His)	ALOX12B (R679H)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 2	GPathogenic
Select item 39540	NM_001139.3(ALOX12B):c.2036G>T (p.Arg679Leu)	ALOX12B (R679L)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 2	GPathogenic
Select item 995720	NM_001139.3(ALOX12B):c.2035C>A (p.Arg679Ser)	ALOX12B (R679S)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 2	GPathogenic
Select item 995477	NM_001139.3(ALOX12B):c.2021_2022dup (p.Asp675fs)	ALOX12B (D675fs)	Microsatellite (frameshift variant)	Autosomal recessive congenital ichthyosis 2	GPathogenic
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 995729	NM_001139.3(ALOX12B):c.2012del (p.Gln671fs)	ALOX12B (Q671fs)	Deletion (frameshift variant)	Autosomal recessive congenital ichthyosis 2	GPathogenic
Select item 995498	NM_001139.3(ALOX12B):c.2000A>C (p.Gln667Pro)	ALOX12B (Q667P)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 2	GPathogenic
Select item 2028493	NM_001139.3(ALOX12B):c.1984_1986dup (p.Ile662_Glu663insIle)	ALOX12B	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 995753	NM_001139.3(ALOX12B):c.1977del (p.Arg660fs)	ALOX12B (R660fs)	Deletion (frameshift variant)	Autosomal recessive congenital ichthyosis 2	GPathogenic
Select item 890040	NM_001139.3(ALOX12B):c.1966G>A (p.Glu656Lys)	ALOX12B (E656K)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 2	GUncertain significance
Select item 995717	NM_001139.3(ALOX12B):c.1963G>A (p.Glu655Lys)	ALOX12B (E655K)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 2	GPathogenic
Select item 800984	NM_001139.3(ALOX12B):c.1958T>G (p.Phe653Cys)	ALOX12B (F653C)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 2	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 995480	NM_001139.3(ALOX12B):c.1937dup (p.His647fs)	ALOX12B (H647fs)	Duplication (frameshift variant)	Autosomal recessive congenital ichthyosis 2	GPathogenic
Select item 995752	NM_001139.3(ALOX12B):c.1936G>A (p.Gly646Arg)	ALOX12B (G646R)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 2	GPathogenic
Select item 2956106	NM_001139.3(ALOX12B):c.1927-17G>C	ALOX12B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 325869	NM_001139.3(ALOX12B):c.1926+9C>T	ALOX12B	Single nucleotide variant (intron variant)	Autosomal recessive congenital ichthyosis 2	GUncertain significance
Select item 325870	NM_001139.3(ALOX12B):c.1926+4C>T	ALOX12B	Single nucleotide variant (intron variant)	Autosomal recessive congenital ichthyosis 2	GUncertain significance
Select item 995733	NM_001139.3(ALOX12B):c.1926+2T>G	ALOX12B	Single nucleotide variant (splice donor variant)	Autosomal recessive congenital ichthyosis 2	GPathogenic
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 388812	NM_001139.3(ALOX12B):c.1907G>T (p.Ser636Ile)	ALOX12B (S636I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3337000	NM_001139.3(ALOX12B):c.1878C>A (p.Cys626Ter)	ALOX12B (C626*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 995757	NM_001139.3(ALOX12B):c.1871C>T (p.Thr624Ile)	ALOX12B (T624I)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 2	GPathogenic
Select item 995730	NM_001139.3(ALOX12B):c.1861G>T (p.Asp621Tyr)	ALOX12B (D621Y)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 2	GPathogenic
Select item 432898	NM_001139.3(ALOX12B):c.1859C>T (p.Pro620Leu)	ALOX12B (P620L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 374101	NM_001139.3(ALOX12B):c.1859C>A (p.Pro620Gln)	ALOX12B (P620Q)	Single nucleotide variant (missense variant)	Ichthyosis	GPathogenic
Select item 325871	NM_001139.3(ALOX12B):c.1854G>T (p.Thr618=)	ALOX12B	Single nucleotide variant (synonymous variant)	Autosomal recessive congenital ichthyosis 2	GUncertain significance
Select item 891592	NM_001139.3(ALOX12B):c.1842C>T (p.Thr614=)	ALOX12B	Single nucleotide variant (synonymous variant)	Autosomal recessive congenital ichthyosis 2	GUncertain significance
Select item 995751	NM_001139.3(ALOX12B):c.1829C>T (p.Thr610Ile)	ALOX12B (T610I)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 2	GPathogenic
Select item 995731	NM_001139.3(ALOX12B):c.1821G>C (p.Lys607Asn)	ALOX12B (K607N)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 2	GPathogenic
Select item 982808	NM_001139.3(ALOX12B):c.1799G>A (p.Arg600Gln)	ALOX12B (R600Q)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 2	GLikely pathogenic
Select item 995756	NM_001139.3(ALOX12B):c.1797G>T (p.Met599Ile)	ALOX12B (M599I)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 2	GPathogenic
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 1438249	NM_001139.3(ALOX12B):c.1785_1790del (p.Phe595_Ala597delinsLeu)	ALOX12B	Deletion (inframe_indel)	not provided	GPathogenic
Select item 265039	NM_001139.3(ALOX12B):c.1790C>A (p.Ala597Glu)	ALOX12B (A597E)	Single nucleotide variant (missense variant)	Lamellar ichthyosis +2 more	GPathogenic/Likely pathogenic
Select item 995492	NM_001139.3(ALOX12B):c.1787C>T (p.Pro596Leu)	ALOX12B (P596L)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 2	GPathogenic
Select item 325872	NM_001139.3(ALOX12B):c.1756-9C>T	ALOX12B	Single nucleotide variant (intron variant)	Autosomal recessive congenital ichthyosis 2	GUncertain significance
Select item 1279270	NM_001139.3(ALOX12B):c.1755+58T>A	ALOX12B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 995722	NM_001139.3(ALOX12B):c.1742T>G (p.Val581Gly)	ALOX12B (V581G)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 2	GPathogenic
Select item 6084	NM_001139.3(ALOX12B):c.1734C>A (p.His578Gln)	ALOX12B (H578Q)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 2	GPathogenic
Select item 995724	NM_001139.3(ALOX12B):c.1732C>T (p.His578Tyr)	ALOX12B (H578Y)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 2	GPathogenic
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 633824	NM_001139.3(ALOX12B):c.1697A>G (p.Tyr566Cys)	ALOX12B (Y566C)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 2	GLikely pathogenic
Select item 995727	NM_001139.3(ALOX12B):c.1694G>C (p.Arg565Pro)	ALOX12B (R565P)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 2	GPathogenic
Select item 2832883	NM_001139.3(ALOX12B):c.1693del (p.Arg565fs)	ALOX12B (R565fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 995718	NM_001139.3(ALOX12B):c.1669_1681del (p.Arg558fs)	ALOX12B (R558fs)	Deletion (frameshift variant)	Autosomal recessive congenital ichthyosis 2	GPathogenic
Select item 995493	NM_001139.3(ALOX12B):c.1676C>T (p.Thr559Ile)	ALOX12B (T559I)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 2	GPathogenic
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 1927584	NM_001139.3(ALOX12B):c.1655-7C>G	ALOX12B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 995476	NM_001139.3(ALOX12B):c.1655-7C>A	ALOX12B	Single nucleotide variant (intron variant)	Autosomal recessive congenital ichthyosis 2	GPathogenic
Select item 325873	NM_001139.3(ALOX12B):c.1655-9G>A	ALOX12B	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2970557	NM_001139.3(ALOX12B):c.1655-13C>T	ALOX12B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1188968	NM_001139.3(ALOX12B):c.1655-30T>C	ALOX12B	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1248982	NM_001139.3(ALOX12B):c.1655-80G>A	ALOX12B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245791	NM_001139.3(ALOX12B):c.1655-293G>A	ALOX12B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281047	NM_001139.3(ALOX12B):c.1654+162C>T	ALOX12B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225157	NM_001139.3(ALOX12B):c.1654+94A>T	ALOX12B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 995499	NM_001139.3(ALOX12B):c.1654+3A>G	ALOX12B	Single nucleotide variant (intron variant)	not provided	GPathogenic
Select item 995725	NM_001139.3(ALOX12B):c.1654+1G>A	ALOX12B	Single nucleotide variant (splice donor variant)	Autosomal recessive congenital ichthyosis 2	GPathogenic
Select item 39545	NM_001139.3(ALOX12B):c.1642C>T (p.Arg548Trp)	ALOX12B (R548W)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 995723	NM_001139.3(ALOX12B):c.1634T>G (p.Leu545Arg)	ALOX12B (L545R)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 2	GPathogenic
Select item 995485	NM_001139.3(ALOX12B):c.1630T>C (p.Cys544Arg)	ALOX12B (C544R)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 2	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 2731629	NM_001139.3(ALOX12B):c.1615G>A (p.Glu539Lys)	ALOX12B (E539K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 995719	NM_001139.3(ALOX12B):c.1613A>C (p.Gln538Pro)	ALOX12B (Q538P)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 2	GPathogenic
Select item 995746	NM_001139.3(ALOX12B):c.1609G>A (p.Val537Met)	ALOX12B (V537M)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 2 +1 more	GConflicting classifications of pathogenicity
Select item 995749	NM_001139.3(ALOX12B):c.1594G>A (p.Glu532Lys)	ALOX12B (E532K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 325874	NM_001139.3(ALOX12B):c.1592C>T (p.Pro531Leu)	ALOX12B (P531L)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 2	GUncertain significance
Select item 891593	NM_001139.3(ALOX12B):c.1586G>A (p.Gly529Asp)	ALOX12B (G529D)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 2	GUncertain significance
Select item 212729	NM_001139.3(ALOX12B):c.1579G>A (p.Val527Met)	ALOX12B (V527M)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 2 +1 more	GPathogenic/Likely pathogenic
Select item 891594	NM_001139.3(ALOX12B):c.1577C>A (p.Ala526Asp)	ALOX12B (A526D)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 2	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 1908100	NM_001139.3(ALOX12B):c.1572C>T (p.Asp524=)	ALOX12B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 325875	NM_001139.3(ALOX12B):c.1570G>A (p.Asp524Asn)	ALOX12B (D524N)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 2	GUncertain significance
Select item 638492	NM_001139.3(ALOX12B):c.1566G>T (p.Pro522=)	ALOX12B	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 325876	NM_001139.3(ALOX12B):c.1565C>T (p.Pro522Leu)	ALOX12B (P522L)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 2 +1 more	GBenign/Likely benign
Select item 39546	NM_001139.3(ALOX12B):c.1562A>G (p.Tyr521Cys)	ALOX12B (Y521C)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic
Select item 325877	NM_001139.3(ALOX12B):c.1541C>T (p.Thr514Met)	ALOX12B (T514M)	Single nucleotide variant (missense variant)	Congenital ichthyosiform erythroderma	GUncertain significance
Select item 995483	NM_001139.3(ALOX12B):c.1533-1G>T	ALOX12B	Single nucleotide variant (splice acceptor variant)	Autosomal recessive congenital ichthyosis 2	GPathogenic
Select item 891849	NM_001139.3(ALOX12B):c.1533-11C>G	ALOX12B	Single nucleotide variant (intron variant)	Autosomal recessive congenital ichthyosis 2 +1 more	GBenign

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