"GeneDx"[submitter] AND "LOC130064454"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1010013	NM_181882.3(PRX):c.154C>A (p.Pro52Thr)	LOC130064454, PRX (P52T)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4 +1 more	GUncertain significance
Select item 284652	NM_181882.3(PRX):c.133C>G (p.Arg45Gly)	LOC130064454, PRX (R45G)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 503915	NM_181882.3(PRX):c.123_124dup (p.Ile42fs)	LOC130064454, PRX (I42fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 246547	NM_181882.3(PRX):c.121G>A (p.Gly41Arg)	LOC130064454, PRX (G41R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 513758	NM_181882.3(PRX):c.108C>A (p.Gly36=)	PRX, LOC130064454	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 512272	NM_181882.3(PRX):c.102A>C (p.Val34=)	LOC130064454, PRX	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 246066	NM_181882.3(PRX):c.85G>A (p.Val29Ile)	LOC130064454, PRX (V29I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 547996	NM_181882.3(PRX):c.80C>A (p.Thr27Asn)	LOC130064454, PRX (T27N)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4F +3 more	GUncertain significance
Select item 668603	NM_181882.3(PRX):c.28-52G>A	LOC130064454, PRX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1195785	NM_181882.3(PRX):c.28-92_28-83dup	LOC130064454, PRX	Duplication (intron variant)	not provided	GLikely benign