ClinVar for MedGen (Select 761665) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 1699385	NM_021628.3(ALOXE3):c.1562+4_1562+5insCACCTCT	ALOXE3	Microsatellite (intron variant)	Autosomal recessive congenital ichthyosis 3	GUncertain significance
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 1188973	NM_001165960.1(ALOXE3):c.32C>T (p.Pro11Leu)	ALOXE3, LOC126862485 (P11L)	Single nucleotide variant (missense 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 1188971	NM_021628.3(ALOXE3):c.1685-117A>G	ALOXE3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1029817	NM_021628.3(ALOXE3):c.715C>T (p.Arg239Cys)	ALOXE3 (R238C +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 3	GUncertain significance
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 995471	NM_021628.3(ALOXE3):c.1246T>C (p.Cys416Arg)	ALOXE3 (C415R +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 3	GPathogenic
Select item 995470	NM_021628.3(ALOXE3):c.308A>C (p.Gln103Pro)	ALOXE3 (Q103P +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 3	GPathogenic
Select item 995469	NM_021628.3(ALOXE3):c.1393-1G>A	ALOXE3	Single nucleotide variant (splice acceptor variant)	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 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 995466	NM_021628.3(ALOXE3):c.923T>C (p.Leu308Pro)	ALOXE3 (L307P +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 3	GPathogenic
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 995464	NM_021628.3(ALOXE3):c.1292dup (p.His431fs)	ALOXE3 (H430fs +2 more)	Duplication (frameshift variant)	Autosomal recessive congenital ichthyosis 3	GPathogenic
Select item 995463	NM_021628.3(ALOXE3):c.833A>G (p.Tyr278Cys)	ALOXE3 (Y277C +2 more)	Single nucleotide variant (missense variant)	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 995461	NM_021628.3(ALOXE3):c.271G>T (p.Glu91Ter)	ALOXE3 (E223* +1 more)	Single nucleotide variant (nonsense)	Autosomal recessive congenital ichthyosis 3	GPathogenic
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 995459	NM_021628.3(ALOXE3):c.397A>G (p.Arg133Gly)	ALOXE3 (R133G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 995457	NM_021628.3(ALOXE3):c.952dup (p.Leu318fs)	ALOXE3 (L317fs +2 more)	Duplication (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 995455	NM_021628.3(ALOXE3):c.1305+1_1305+2delinsTA	ALOXE3	Indel (splice donor variant)	Autosomal recessive congenital ichthyosis 3	GPathogenic
Select item 995454	NM_021628.3(ALOXE3):c.353-1G>C	ALOXE3	Single nucleotide variant (splice acceptor variant)	Autosomal recessive congenital ichthyosis 3	GPathogenic
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 995451	NM_021628.3(ALOXE3):c.327C>A (p.Cys109Ter)	ALOXE3 (C109* +1 more)	Single nucleotide variant (nonsense)	Autosomal recessive congenital ichthyosis 3	GPathogenic
Select item 995450	NM_021628.3(ALOXE3):c.957G>A (p.Glu319=)	ALOXE3	Single nucleotide variant (synonymous variant)	Autosomal recessive congenital ichthyosis 3	GPathogenic
Select item 995449	NM_021628.3(ALOXE3):c.758del (p.Phe253fs)	ALOXE3 (F252fs +2 more)	Deletion (frameshift variant)	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 982895	NM_021628.3(ALOXE3):c.680+1G>A	ALOXE3	Single nucleotide variant (splice donor variant)	Autosomal recessive congenital ichthyosis 3 +1 more	GPathogenic
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 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 892054	NM_021628.3(ALOXE3):c.1305+12C>G	ALOXE3	Single nucleotide variant (intron 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 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 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 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 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 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 890856	NM_021628.3(ALOXE3):c.148-11G>C	ALOXE3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
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 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 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 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 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 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 890290	NM_021628.3(ALOXE3):c.555-14C>G	ALOXE3	Single nucleotide variant (intron variant)	Autosomal recessive congenital ichthyosis 3 +1 more	GBenign
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 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 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 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 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 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 808222	NM_021628.3(ALOXE3):c.680C>T (p.Ala227Val)	ALOXE3 (A226V +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 3 +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 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 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 633811	NM_021628.3(ALOXE3):c.834C>A (p.Tyr278Ter)	ALOXE3 (Y278* +2 more)	Single nucleotide variant (nonsense)	Autosomal recessive congenital ichthyosis 3 +2 more	GPathogenic
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 623378	NM_021628.3(ALOXE3):c.1486C>T (p.Arg496Trp)	ALOXE3 (R628W +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 3	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 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 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 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 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 325974	NM_021628.3(ALOXE3):c.680+9A>G	ALOXE3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 325973	NM_021628.3(ALOXE3):c.799C>T (p.His267Tyr)	ALOXE3 (H399Y +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	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 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 325969	NM_021628.3(ALOXE3):c.1365G>A (p.Leu455=)	ALOXE3	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 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 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 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 325964	NM_021628.3(ALOXE3):c.1684+5C>T	ALOXE3	Single nucleotide variant (intron 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 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 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 325959	NM_021628.3(ALOXE3):c.1786-10G>A	ALOXE3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
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 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 325956	NM_021628.3(ALOXE3):c.2019C>T (p.Ala673=)	ALOXE3	Single nucleotide variant (synonymous variant)	not provided +1 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 325954	NM_021628.3(ALOXE3):c.*24A>G	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

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