C3888093[trait identifier] AND "Uitto Lab, Thomas Jefferson University - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 633824	NM_001139.3(ALOX12B):c.1697A>G (p.Tyr566Cys)	ALOX12B (Y566C)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 2	GLikely pathogenic
Select item 633827	NM_001139.3(ALOX12B):c.1350dup (p.Leu451fs)	ALOX12B (L451fs)	Duplication (frameshift variant)	Autosomal recessive congenital ichthyosis 2 +1 more	GPathogenic/Likely pathogenic
Select item 633822	NM_001139.3(ALOX12B):c.1349G>T (p.Gly450Val)	ALOX12B (G450V)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 2	GUncertain significance
Select item 633821	NM_001139.3(ALOX12B):c.1325G>T (p.Arg442Leu)	ALOX12B (R442L)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 2	GLikely pathogenic
Select item 633826	NM_001139.3(ALOX12B):c.787T>C (p.Phe263Leu)	LOC130060196, ALOX12B (F263L)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 2	GUncertain significance
Select item 437455	NM_001139.3(ALOX12B):c.527+2T>G	ALOX12B	Single nucleotide variant (splice donor variant)	Autosomal recessive congenital ichthyosis 2	GPathogenic/Likely pathogenic
Select item 633823	NM_001139.3(ALOX12B):c.149_353del (p.Val50fs)	ALOX12B (V50fs)	Deletion (frameshift variant +2 more)	Autosomal recessive congenital ichthyosis 2	GPathogenic
Select item 633820	NM_001139.3(ALOX12B):c.338T>C (p.Leu113Pro)	ALOX12B (L113P)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 2	GLikely pathogenic
Select item 633825	NM_001139.3(ALOX12B):c.286_287dup (p.Tyr97fs)	ALOX12B (Y97fs)	Duplication (frameshift variant)	Autosomal recessive congenital ichthyosis 2	GPathogenic
Select item 633819	NM_001139.3(ALOX12B):c.83G>A (p.Gly28Glu)	ALOX12B (G28E)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 2	GConflicting classifications of pathogenicity
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 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 633810	NM_021628.3(ALOXE3):c.306T>A (p.Tyr102Ter)	ALOXE3 (Y102* +1 more)	Single nucleotide variant (nonsense)	Autosomal recessive congenital ichthyosis 2	GPathogenic