C3888093[trait identifier] AND "Institute of Human Genetics, Universit - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 982808	NM_001139.3(ALOX12B):c.1799G>A (p.Arg600Gln)	ALOX12B (R600Q)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 2	GLikely pathogenic
Select item 982978	NM_001139.3(ALOX12B):c.1272dup (p.Lys425fs)	ALOX12B (K425fs)	Duplication (frameshift variant)	not provided +2 more	GPathogenic
Select item 1285482	NM_001139.3(ALOX12B):c.1144A>G (p.Lys382Glu)	ALOX12B (K382E)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 2	GUncertain significance

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