Related gene-specific medical variations for Gene (Select 59344) - ClinVar

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Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3288203	NM_021628.3(ALOXE3):c.995C>A (p.Ala332Glu)	ALOXE3, LOC130060198 (A464E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3112953	NM_021628.3(ALOXE3):c.1219A>G (p.Thr407Ala)	ALOXE3, LOC130060198 (T539A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3112949	NM_021628.3(ALOXE3):c.1182G>C (p.Trp394Cys)	ALOXE3, LOC130060198 (W526C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3013073	NM_021628.3(ALOXE3):c.1002C>T (p.Ala334=)	ALOXE3, LOC130060198	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2707692	NM_021628.3(ALOXE3):c.1181G>A (p.Trp394Ter)	ALOXE3, LOC130060198 (W394* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2647445	NM_021628.3(ALOXE3):c.-118C>T	ALOXE3, LOC126862485	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 2441183	NM_021628.3(ALOXE3):c.352+1G>T	ALOXE3	Single nucleotide variant (splice donor variant)	Autosomal recessive congenital ichthyosis 3	GLikely pathogenic
Select item 2315191	NM_021628.3(ALOXE3):c.101C>T (p.Pro34Leu)	ALOXE3, LOC126862485 (P34L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2245373	NM_021628.3(ALOXE3):c.1204G>A (p.Val402Met)	ALOXE3, LOC130060198 (V401M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2208830	NM_021628.3(ALOXE3):c.1021G>C (p.Gly341Arg)	ALOXE3, LOC130060198 (G340R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2059573	NM_021628.3(ALOXE3):c.-48C>T	ALOXE3, LOC126862485	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1691300	NM_021628.3(ALOXE3):c.75_76insGAC (p.Thr25_Leu26insAsp)	LOC126862485, ALOXE3	Insertion (inframe_insertion)	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 1323064	NM_021628.3(ALOXE3):c.1432del (p.Ser478fs)	ALOXE3 (S477fs +2 more)	Deletion (frameshift variant)	Autosomal recessive congenital ichthyosis 3	GPathogenic
Select item 1292221	NM_021628.3(ALOXE3):c.1101+15del	ALOXE3, LOC130060198	Deletion (intron variant)	not provided	GBenign
Select item 1278146	NM_001165960.1(ALOXE3):c.-43G>T	ALOXE3, LOC126862485	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1269386	NM_021628.3(ALOXE3):c.-313-78C>A	ALOXE3, LOC126862485	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1188973	NM_001165960.1(ALOXE3):c.32C>T (p.Pro11Leu)	ALOXE3, LOC126862485 (P11L)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 3 +1 more	GBenign
Select item 995474	NM_021628.2:c.435-?_554+?del	ALOXE3	Deletion	Autosomal recessive congenital ichthyosis 3	GPathogenic
Select item 995473	NM_021628.3(ALOXE3):c.1202T>A (p.Leu401Gln)	ALOXE3, LOC130060198 (L400Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 995472	NM_021628.3(ALOXE3):c.1164G>T (p.Trp388Cys)	ALOXE3, LOC130060198 (W387C +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 3	GPathogenic
Select item 995467	NM_021628.3(ALOXE3):c.1031A>C (p.Gln344Pro)	ALOXE3, LOC130060198 (Q343P +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 995465	NM_021628.3(ALOXE3):c.1031_1039del (p.Gln344_Ala347delinsPro)	ALOXE3, LOC130060198	Deletion (inframe_indel)	Autosomal recessive congenital ichthyosis 3	GPathogenic
Select item 995462	NM_021628.3(ALOXE3):c.1061G>A (p.Trp354Ter)	ALOXE3, LOC130060198 (W353* +2 more)	Single nucleotide variant (nonsense)	Autosomal recessive congenital ichthyosis 3	GPathogenic
Select item 995458	NM_021628.3(ALOXE3):c.57_63del (p.Asp20fs)	ALOXE3, LOC126862485 (D152fs +1 more)	Deletion (frameshift variant)	Autosomal recessive congenital ichthyosis 3	GPathogenic
Select item 995456	NM_021628.3(ALOXE3):c.38_41del (p.Pro12_Tyr13insTer)	ALOXE3, LOC126862485	Deletion (nonsense)	Autosomal recessive congenital ichthyosis 3	GPathogenic
Select item 995448	NM_021628.3(ALOXE3):c.1193C>T (p.Ser398Phe)	ALOXE3, LOC130060198 (S397F +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 3	GPathogenic
Select item 892055	NM_021628.3(ALOXE3):c.1101+9G>A	ALOXE3, LOC130060198	Single nucleotide variant (intron variant)	Autosomal recessive congenital ichthyosis 3 +1 more	GConflicting classifications of pathogenicity
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 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 817655	NM_021628.3(ALOXE3):c.1096del (p.Ile366fs)	ALOXE3, LOC130060198 (I365fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 798836	NM_021628.3(ALOXE3):c.36C>T (p.Pro12=)	ALOXE3, LOC126862485	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 729342	NM_021628.3(ALOXE3):c.1101+10G>A	ALOXE3, LOC130060198	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 633812	NM_021628.3(ALOXE3):c.1208A>G (p.His403Arg)	ALOXE3, LOC130060198 (H403R +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 2 +1 more	GLikely pathogenic
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 325983	NM_021628.3(ALOXE3):c.-304G>T	ALOXE3, LOC126862485 (Q31H)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive congenital ichthyosis 3 +2 more	GBenign/Likely benign
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 325981	NM_021628.3(ALOXE3):c.-295T>C	ALOXE3, LOC126862485	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
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 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 325978	NM_021628.3(ALOXE3):c.-99C>G	ALOXE3, LOC126862485 (R100G)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
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 217300	NC_000017.11:g.8017296_8022594del	ALOXE3, GUCY2D	Deletion	Autosomal recessive congenital ichthyosis 3	GPathogenic
Select item 3409	NM_021628.3(ALOXE3):c.1186C>A (p.Arg396Ser)	ALOXE3, LOC130060198 (R396S +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 3	GPathogenic

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Items: 46