59344[Gene ID] - 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	LOC129390832, LOC130060171 +141 more	Deletion	Li-Fraumeni syndrome	GPathogenic
Select item 463365	NC_000017.11:g.(?_7669603)_(8382316_?)del	BORCS6, CHD3 +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 217300	NC_000017.11:g.8017296_8022594del	ALOXE3, GUCY2D	Deletion	Autosomal recessive congenital ichthyosis 3	GPathogenic
Select item 325940	NM_021628.3(ALOXE3):c.*693G>T	ALOXE3	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive congenital ichthyosis 3	GUncertain significance
Select item 325941	NM_021628.3(ALOXE3):c.*669T>G	ALOXE3	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive congenital ichthyosis 3	GUncertain significance
Select item 890770	NM_021628.3(ALOXE3):c.*654C>T	ALOXE3	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive congenital ichthyosis 3	GUncertain significance
Select item 325942	NM_021628.3(ALOXE3):c.*641C>T	ALOXE3	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive congenital ichthyosis 3	GUncertain significance
Select item 325943	NM_021628.3(ALOXE3):c.*618T>C	ALOXE3	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive congenital ichthyosis 3	GUncertain significance
Select item 325944	NM_021628.3(ALOXE3):c.*538G>A	ALOXE3	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive congenital ichthyosis 3	GUncertain significance
Select item 892011	NM_021628.3(ALOXE3):c.*523A>G	ALOXE3	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive congenital ichthyosis 3	GUncertain significance
Select item 325945	NM_021628.3(ALOXE3):c.*514T>G	ALOXE3	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 892012	NM_021628.3(ALOXE3):c.*481G>A	ALOXE3	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive congenital ichthyosis 3	GUncertain significance
Select item 325946	NM_021628.3(ALOXE3):c.*466G>A	ALOXE3	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive congenital ichthyosis 3	GUncertain significance
Select item 325947	NM_021628.3(ALOXE3):c.*392G>A	ALOXE3	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive congenital ichthyosis 3	GLikely benign
Select item 325948	NM_021628.3(ALOXE3):c.*391C>A	ALOXE3	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive congenital ichthyosis 3	GBenign
Select item 325949	NM_021628.3(ALOXE3):c.*356A>C	ALOXE3	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 889600	NM_021628.3(ALOXE3):c.*344C>T	ALOXE3	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive congenital ichthyosis 3	GUncertain significance
Select item 325950	NM_021628.3(ALOXE3):c.*314T>A	ALOXE3	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive congenital ichthyosis 3	GUncertain significance
Select item 889601	NM_021628.3(ALOXE3):c.*262C>T	ALOXE3	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive congenital ichthyosis 3	GUncertain significance
Select item 325951	NM_021628.3(ALOXE3):c.*222C>G	ALOXE3	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive congenital ichthyosis 3	GUncertain significance
Select item 889602	NM_021628.3(ALOXE3):c.*161C>T	ALOXE3	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive congenital ichthyosis 3	GUncertain significance
Select item 325952	NM_021628.3(ALOXE3):c.*111T>C	ALOXE3	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 325953	NM_021628.3(ALOXE3):c.*87C>T	ALOXE3	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive congenital ichthyosis 3	GLikely benign
Select item 325954	NM_021628.3(ALOXE3):c.*24A>G	ALOXE3	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 3042617	NM_021628.3(ALOXE3):c.*1C>A	ALOXE3	Single nucleotide variant (3 prime UTR variant)	ALOXE3-related disorder	GLikely benign
Select item 3113022	NM_021628.3(ALOXE3):c.2125G>A (p.Val709Ile)	ALOXE3 (V708I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 261424	NM_021628.3(ALOXE3):c.2124C>T (p.Ser708=)	ALOXE3	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 773064	NM_021628.3(ALOXE3):c.2114T>C (p.Ile705Thr)	ALOXE3 (I704T +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 423346	NM_021628.3(ALOXE3):c.2080G>C (p.Ala694Pro)	ALOXE3 (A694P +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 633813	NM_021628.3(ALOXE3):c.2065C>T (p.Arg689Trp)	ALOXE3 (R689W +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 2 +1 more	GLikely pathogenic
Select item 758240	NM_021628.3(ALOXE3):c.2033G>A (p.Arg678His)	ALOXE3 (R678H +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 325955	NM_021628.3(ALOXE3):c.2032C>T (p.Arg678Cys)	ALOXE3 (R678C +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 325956	NM_021628.3(ALOXE3):c.2019C>T (p.Ala673=)	ALOXE3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 325957	NM_021628.3(ALOXE3):c.2008C>T (p.Arg670Trp)	ALOXE3 (R802W +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 3 +1 more	GConflicting classifications of pathogenicity
Select item 2535710	NM_021628.3(ALOXE3):c.1984C>T (p.His662Tyr)	ALOXE3 (H794Y +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1377327	NM_021628.3(ALOXE3):c.1964del (p.Leu655fs)	ALOXE3 (L655fs +2 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2463793	NM_021628.3(ALOXE3):c.1963C>G (p.Leu655Val)	ALOXE3 (L654V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1291109	NM_021628.3(ALOXE3):c.1956+222A>C	ALOXE3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3020874	NM_021628.3(ALOXE3):c.1956+11G>A	ALOXE3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 973092	NM_021628.3(ALOXE3):c.1954C>T (p.Gln652Ter)	ALOXE3 (Q651* +2 more)	Single nucleotide variant (nonsense)	Autosomal recessive congenital ichthyosis 3	GPathogenic
Select item 995468	NM_021628.3(ALOXE3):c.1937_1944del (p.Ser646fs)	ALOXE3 (S645fs +2 more)	Deletion (frameshift variant)	Autosomal recessive congenital ichthyosis 3	GPathogenic
Select item 2232569	NM_021628.3(ALOXE3):c.1937G>C (p.Ser646Thr)	ALOXE3 (S645T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3113004	NM_021628.3(ALOXE3):c.1927T>G (p.Trp643Gly)	ALOXE3 (W643G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3288166	NM_021628.3(ALOXE3):c.1913A>T (p.Asn638Ile)	ALOXE3 (N638I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 279677	NM_021628.3(ALOXE3):c.1889C>T (p.Pro630Leu)	ALOXE3 (P762L +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis +3 more	GPathogenic
Select item 325958	NM_021628.3(ALOXE3):c.1871C>T (p.Thr624Ile)	ALOXE3 (T624I +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 995460	NM_021628.3(ALOXE3):c.1812T>A (p.Asn604Lys)	ALOXE3 (N603K +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 3	GPathogenic
Select item 2226203	NM_021628.3(ALOXE3):c.1811A>G (p.Asn604Ser)	ALOXE3 (N604S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 995453	NM_021628.3(ALOXE3):c.1786-63_1807del	ALOXE3	Deletion (splice acceptor variant)	Autosomal recessive congenital ichthyosis 3	GPathogenic
Select item 995452	NM_021628.3(ALOXE3):c.1803_1804dup (p.Met602fs)	ALOXE3 (M601fs +2 more)	Duplication (frameshift variant)	Autosomal recessive congenital ichthyosis 3	GPathogenic
Select item 1494892	NM_021628.3(ALOXE3):c.1802G>T (p.Trp601Leu)	ALOXE3 (W601L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 379699	NM_021628.3(ALOXE3):c.1786-2A>G	ALOXE3	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 325959	NM_021628.3(ALOXE3):c.1786-10G>A	ALOXE3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1267138	NM_021628.3(ALOXE3):c.1786-87C>T	ALOXE3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262321	NM_021628.3(ALOXE3):c.1786-194A>G	ALOXE3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 261423	NM_021628.3(ALOXE3):c.1785+17C>A	ALOXE3	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 3112991	NM_021628.3(ALOXE3):c.1777A>G (p.Ser593Gly)	ALOXE3 (S592G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 325960	NM_021628.3(ALOXE3):c.1764C>T (p.His588=)	ALOXE3	Single nucleotide variant (synonymous variant)	Congenital ichthyosiform erythroderma	GUncertain significance
Select item 2549741	NM_021628.3(ALOXE3):c.1748A>G (p.Asn583Ser)	ALOXE3 (N715S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2382239	NM_021628.3(ALOXE3):c.1712G>T (p.Gly571Val)	ALOXE3 (G570V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 325961	NM_021628.3(ALOXE3):c.1710A>G (p.Pro570=)	ALOXE3	Single nucleotide variant (synonymous variant)	Autosomal recessive congenital ichthyosis 3	GUncertain significance
Select item 325962	NM_021628.3(ALOXE3):c.1706C>A (p.Thr569Asn)	ALOXE3 (T701N +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 3	GUncertain significance
Select item 325963	NM_021628.3(ALOXE3):c.1696C>T (p.Arg566Trp)	ALOXE3 (R566W +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 3	GUncertain significance
Select item 2582509	NM_021628.3(ALOXE3):c.1685-2A>G	ALOXE3	Single nucleotide variant (splice acceptor variant)	Autosomal recessive congenital ichthyosis 3	GLikely pathogenic
Select item 1926912	NM_021628.3(ALOXE3):c.1685-3C>G	ALOXE3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1188971	NM_021628.3(ALOXE3):c.1685-117A>G	ALOXE3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1188972	NM_021628.3(ALOXE3):c.1685-150G>A	ALOXE3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1272519	NM_021628.3(ALOXE3):c.1684+260T>G	ALOXE3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 325964	NM_021628.3(ALOXE3):c.1684+5C>T	ALOXE3	Single nucleotide variant (intron variant)	Autosomal recessive congenital ichthyosis 3	GUncertain significance
Select item 2336294	NM_021628.3(ALOXE3):c.1673G>A (p.Arg558Gln)	ALOXE3 (R690Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3112975	NM_021628.3(ALOXE3):c.1637G>C (p.Trp546Ser)	ALOXE3 (W546S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 890817	NM_021628.3(ALOXE3):c.1635C>T (p.Ala545=)	ALOXE3	Single nucleotide variant (synonymous variant)	Autosomal recessive congenital ichthyosis 3	GUncertain significance
Select item 449286	NM_021628.3(ALOXE3):c.1630C>T (p.Gln544Ter)	ALOXE3 (Q544* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 325965	NM_021628.3(ALOXE3):c.1626G>A (p.Glu542=)	ALOXE3	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2193830	NM_021628.3(ALOXE3):c.1603G>A (p.Ala535Thr)	ALOXE3 (A535T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 890818	NM_021628.3(ALOXE3):c.1598G>A (p.Ser533Asn)	ALOXE3 (S532N +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 3	GUncertain significance
Select item 1417935	NM_021628.3(ALOXE3):c.1595C>G (p.Pro532Arg)	ALOXE3 (P664R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3112969	NM_021628.3(ALOXE3):c.1586A>G (p.Tyr529Cys)	ALOXE3 (Y529C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3112965	NM_021628.3(ALOXE3):c.1585T>C (p.Tyr529His)	ALOXE3 (Y528H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2116533	NM_021628.3(ALOXE3):c.1583del (p.Gly528fs)	ALOXE3 (G527fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1879361	NM_021628.3(ALOXE3):c.1573G>T (p.Glu525Ter)	ALOXE3 (E524* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2501242	NM_021628.3(ALOXE3):c.1563-2A>G	ALOXE3	Single nucleotide variant (splice acceptor variant)	Lamellar ichthyosis	GLikely pathogenic
Select item 1235077	NM_021628.3(ALOXE3):c.1563-117C>T	ALOXE3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289707	NM_021628.3(ALOXE3):c.1562+33C>T	ALOXE3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1547957	NM_021628.3(ALOXE3):c.1562+16C>A	ALOXE3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1699385	NM_021628.3(ALOXE3):c.1562+4_1562+5insCACCTCT	ALOXE3	Microsatellite (intron variant)	Autosomal recessive congenital ichthyosis 3	GUncertain significance
Select item 3039714	NM_021628.3(ALOXE3):c.1562+4C>A	ALOXE3	Single nucleotide variant (intron variant)	ALOXE3-related disorder	GLikely benign
Select item 1203327	NM_021628.3(ALOXE3):c.1559_1562+3dup	ALOXE3	Duplication (splice donor variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 325966	NM_021628.3(ALOXE3):c.1555A>G (p.Ile519Val)	ALOXE3 (I519V +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 325967	NM_021628.3(ALOXE3):c.1543A>G (p.Ile515Val)	ALOXE3 (I647V +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 892051	NM_021628.3(ALOXE3):c.1542G>A (p.Lys514=)	ALOXE3	Single nucleotide variant (synonymous variant)	Autosomal recessive congenital ichthyosis 3	GUncertain significance
Select item 1323880	NM_021628.3(ALOXE3):c.1525C>T (p.Arg509Ter)	ALOXE3 (R508* +2 more)	Single nucleotide variant (nonsense)	Autosomal recessive congenital ichthyosis 3	GLikely pathogenic
Select item 2520212	NM_021628.3(ALOXE3):c.1507A>G (p.Ile503Val)	ALOXE3 (I503V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 325968	NM_021628.3(ALOXE3):c.1503G>C (p.Leu501=)	ALOXE3	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity

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