C3888093[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 39545	NM_001139.3(ALOX12B):c.1642C>T (p.Arg548Trp)	ALOX12B (R548W)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 1029147	NM_001139.3(ALOX12B):c.1496G>A (p.Arg499His)	ALOX12B (R499H)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 2 +1 more	GConflicting classifications of pathogenicity
Select item 265038	NM_001139.3(ALOX12B):c.1156C>T (p.Arg386Cys)	ALOX12B (R386C)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 2 +1 more	GPathogenic/Likely pathogenic
Select item 1029146	NM_001139.3(ALOX12B):c.1126T>C (p.Trp376Arg)	ALOX12B (W376R)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 2	GUncertain significance
Select item 992981	NM_001139.3(ALOX12B):c.830T>A (p.Ile277Asn)	ALOX12B, LOC130060196 (I277N)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 2	GUncertain significance
Select item 1207726	NM_001139.3(ALOX12B):c.403GAG[1] (p.Glu136del)	ALOX12B (E136del)	Microsatellite (inframe_deletion)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 39538	NM_001139.3(ALOX12B):c.340C>T (p.Arg114Trp)	ALOX12B (R114W)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 2 +1 more	GPathogenic/Likely pathogenic
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