"Illumina Laboratory Services, Illumina"[submitter] AND "ALOXE3"[gene] - ClinVar

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Items: 76

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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)	Autosomal recessive congenital ichthyosis 3	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)	Autosomal recessive congenital ichthyosis 3	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)	Autosomal recessive congenital ichthyosis 3	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)	Autosomal recessive congenital ichthyosis 3	GBenign
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 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 279677	NM_021628.3(ALOXE3):c.1889C>T (p.Pro630Leu)	ALOXE3 (P762L +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 3 +4 more	GPathogenic
Select item 325958	NM_021628.3(ALOXE3):c.1871C>T (p.Thr624Ile)	ALOXE3 (T624I +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 3 +2 more	GConflicting classifications of pathogenicity
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 325960	NM_021628.3(ALOXE3):c.1764C>T (p.His588=)	ALOXE3	Single nucleotide variant (synonymous variant)	Congenital ichthyosiform erythroderma +1 more	GConflicting classifications of pathogenicity
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)	ALOXE3-related condition +1 more	GConflicting classifications of pathogenicity
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 325964	NM_021628.3(ALOXE3):c.1684+5C>T	ALOXE3	Single nucleotide variant (intron variant)	Autosomal recessive congenital ichthyosis 3	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 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 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 325966	NM_021628.3(ALOXE3):c.1555A>G (p.Ile519Val)	ALOXE3 (I519V +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 3 +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)	Autosomal recessive congenital ichthyosis 3 +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 325968	NM_021628.3(ALOXE3):c.1503G>C (p.Leu501=)	ALOXE3	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 892052	NM_021628.3(ALOXE3):c.1499T>G (p.Val500Gly)	ALOXE3 (V499G +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 3	GUncertain significance
Select item 892053	NM_021628.3(ALOXE3):c.1432A>C (p.Ser478Arg)	ALOXE3 (S477R +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 3 +1 more	GConflicting classifications of pathogenicity
Select item 325969	NM_021628.3(ALOXE3):c.1365G>A (p.Leu455=)	ALOXE3	Single nucleotide variant (synonymous variant)	Autosomal recessive congenital ichthyosis 3 +1 more	GConflicting classifications of pathogenicity
Select item 325970	NM_021628.3(ALOXE3):c.1305+15del	ALOXE3	Deletion (intron variant)	Congenital ichthyosiform erythroderma +1 more	GBenign
Select item 892054	NM_021628.3(ALOXE3):c.1305+12C>G	ALOXE3	Single nucleotide variant (intron variant)	Autosomal recessive congenital ichthyosis 3	GUncertain significance
Select item 325971	NM_021628.3(ALOXE3):c.1107C>T (p.Ser369=)	ALOXE3, LOC130060198	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 892055	NM_021628.3(ALOXE3):c.1101+9G>A	ALOXE3, LOC130060198	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 731642	NM_021628.3(ALOXE3):c.1017A>G (p.Leu339=)	ALOXE3, LOC130060198	Single nucleotide variant (synonymous variant)	Autosomal recessive congenital ichthyosis 3 +1 more	GConflicting classifications of pathogenicity
Select item 888591	NM_021628.3(ALOXE3):c.951G>A (p.Glu317=)	ALOXE3	Single nucleotide variant (synonymous variant)	Autosomal recessive congenital ichthyosis 3	GUncertain significance
Select item 325972	NM_021628.3(ALOXE3):c.853G>A (p.Val285Ile)	ALOXE3 (V417I +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 3	GUncertain significance
Select item 325973	NM_021628.3(ALOXE3):c.799C>T (p.His267Tyr)	ALOXE3 (H399Y +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 3	GUncertain significance
Select item 261425	NM_021628.3(ALOXE3):c.785-14C>T	ALOXE3	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 888592	NM_021628.3(ALOXE3):c.780G>A (p.Thr260=)	ALOXE3	Single nucleotide variant (synonymous variant)	Autosomal recessive congenital ichthyosis 3	GUncertain significance
Select item 3410	NM_021628.3(ALOXE3):c.709T>A (p.Leu237Met)	ALOXE3 (L237M +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 325974	NM_021628.3(ALOXE3):c.680+9A>G	ALOXE3	Single nucleotide variant (intron variant)	Autosomal recessive congenital ichthyosis 3 +1 more	GBenign
Select item 632294	NM_021628.3(ALOXE3):c.680+1G>T	ALOXE3	Single nucleotide variant (splice donor variant)	Autosomal recessive congenital ichthyosis 3	GUncertain significance
Select item 325975	NM_021628.3(ALOXE3):c.650C>T (p.Thr217Met)	ALOXE3 (T217M +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 890289	NM_021628.3(ALOXE3):c.584C>T (p.Pro195Leu)	ALOXE3 (P194L +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 3	GUncertain significance
Select item 890290	NM_021628.3(ALOXE3):c.555-14C>G	ALOXE3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 717688	NM_021628.3(ALOXE3):c.474C>T (p.Asp158=)	ALOXE3	Single nucleotide variant (synonymous variant)	Autosomal recessive congenital ichthyosis 3 +1 more	GConflicting classifications of pathogenicity
Select item 325976	NM_021628.3(ALOXE3):c.414G>A (p.Arg138=)	ALOXE3	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 890291	NM_021628.3(ALOXE3):c.412C>T (p.Arg138Trp)	ALOXE3 (R138W +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 3	GUncertain significance
Select item 890292	NM_021628.3(ALOXE3):c.325T>C (p.Cys109Arg)	ALOXE3 (C109R +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 3	GUncertain significance
Select item 325977	NM_021628.3(ALOXE3):c.222C>T (p.Tyr74=)	ALOXE3	Single nucleotide variant (synonymous variant)	Autosomal recessive congenital ichthyosis 3	GUncertain significance
Select item 890855	NM_021628.3(ALOXE3):c.148-3C>G	ALOXE3	Single nucleotide variant (intron variant)	Autosomal recessive congenital ichthyosis 3	GUncertain significance
Select item 890856	NM_021628.3(ALOXE3):c.148-11G>C	ALOXE3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 890857	NM_021628.3(ALOXE3):c.34C>T (p.Pro12Ser)	ALOXE3, LOC126862485 (P144S +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 3	GUncertain significance
Select item 325978	NM_021628.3(ALOXE3):c.-99C>G	ALOXE3, LOC126862485 (R100G)	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive congenital ichthyosis 3	GBenign
Select item 890858	NM_021628.3(ALOXE3):c.-247G>A	ALOXE3, LOC126862485	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive congenital ichthyosis 3	GUncertain significance
Select item 325979	NM_021628.3(ALOXE3):c.-260G>A	ALOXE3, LOC126862485 (C46Y)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive congenital ichthyosis 3	GUncertain significance
Select item 325980	NM_021628.3(ALOXE3):c.-266C>A	ALOXE3, LOC126862485 (T44N)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive congenital ichthyosis 3	GUncertain significance
Select item 325981	NM_021628.3(ALOXE3):c.-295T>C	ALOXE3, LOC126862485	Single nucleotide variant (synonymous variant +1 more)	ALOXE3-related condition +2 more	GConflicting classifications of pathogenicity
Select item 325982	NM_021628.3(ALOXE3):c.-300C>G	ALOXE3, LOC126862485 (P33A)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 325983	NM_021628.3(ALOXE3):c.-304G>T	ALOXE3, LOC126862485 (Q31H)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 325984	NM_021628.3(ALOXE3):c.-337G>T	ALOXE3, LOC126862485	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive congenital ichthyosis 3	GUncertain significance
Select item 2671586	Single allele	TMEM88, TRG-GCC2-6 +31 more	Duplication	not provided	GUncertain significance

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Items: 76