"Baylor Genetics"[submitter] AND "PRX"[gene] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1029319	NM_181882.3(PRX):c.4330G>C (p.Glu1444Gln)	PRX (E1444Q)	Single nucleotide variant (3 prime UTR variant +1 more)	Dejerine-Sottas disease	GUncertain significance
Select item 416225	NM_181882.3(PRX):c.4317C>T (p.Ser1439=)	PRX	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4F +2 more	GConflicting classifications of pathogenicity
Select item 543355	NM_181882.3(PRX):c.4307G>A (p.Arg1436Gln)	PRX (R1436Q)	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4 +5 more	GUncertain significance
Select item 329247	NM_181882.3(PRX):c.4118G>A (p.Arg1373Gln)	PRX (R1373Q)	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4F +2 more	GUncertain significance
Select item 582607	NM_181882.3(PRX):c.3919C>T (p.Arg1307Trp)	PRX (R1307W)	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4 +2 more	GUncertain significance
Select item 4787	NM_181882.3(PRX):c.2857C>T (p.Arg953Ter)	PRX (R953*)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +3 more	GPathogenic
Select item 1503566	NM_181882.3(PRX):c.2790G>C (p.Lys930Asn)	PRX (K930N)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1029317	NM_181882.3(PRX):c.2719C>T (p.Gln907Ter)	PRX (Q907*)	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4F	GLikely pathogenic
Select item 246316	NM_181882.3(PRX):c.1546C>T (p.Arg516Trp)	PRX (R516W)	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4F +4 more	GConflicting classifications of pathogenicity
Select item 1029316	NM_181882.3(PRX):c.1184C>T (p.Thr395Ile)	PRX (T395I)	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4F	GUncertain significance
Select item 543373	NM_181882.3(PRX):c.718C>T (p.Arg240Trp)	PRX (R240W)	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4 +4 more	GUncertain significance
Select item 329286	NM_181882.3(PRX):c.500G>C (p.Arg167Pro)	PRX (R167P)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +4 more	GUncertain significance