"OMIM"[submitter] AND "ALOX12B"[gene] - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 39545	NM_001139.3(ALOX12B):c.1642C>T (p.Arg548Trp)	ALOX12B (R548W)	Single nucleotide variant (missense variant)	Lamellar ichthyosis +4 more	GPathogenic/Likely pathogenic
Select item 39546	NM_001139.3(ALOX12B):c.1562A>G (p.Tyr521Cys)	ALOX12B (Y521C)	Single nucleotide variant (missense variant)	Lamellar ichthyosis +3 more	GPathogenic
Select item 6082	NM_001139.3(ALOX12B):c.1389del (p.Phe463fs)	ALOX12B (F463fs)	Deletion (frameshift variant)	Autosomal recessive congenital ichthyosis 2	GPathogenic
Select item 39539	NM_001139.3(ALOX12B):c.1294C>T (p.Arg432Ter)	ALOX12B (R432*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 6083	NM_001139.3(ALOX12B):c.1277T>C (p.Leu426Pro)	ALOX12B (L426P)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 2	GPathogenic
Select item 39543	NM_001139.3(ALOX12B):c.1207C>T (p.His403Tyr)	ALOX12B (H403Y)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 2	GPathogenic
Select item 39541	NM_001139.3(ALOX12B):c.1180G>A (p.Glu394Lys)	ALOX12B (E394K)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 2	GPathogenic
Select item 39542	NM_001139.3(ALOX12B):c.410T>A (p.Ile137Asn)	ALOX12B (I137N)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 39544	NM_001139.3(ALOX12B):c.353-1G>A	ALOX12B	Single nucleotide variant (splice acceptor variant)	Autosomal recessive congenital ichthyosis 2	GPathogenic
Select item 39538	NM_001139.3(ALOX12B):c.340C>T (p.Arg114Trp)	ALOX12B (R114W)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 39547	NM_001139.3(ALOX12B):c.199A>T (p.Ile67Phe)	ALOX12B (I67F)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 2	GPathogenic