C3540453[trait identifier] AND "Mayo Clinic Laboratories, Mayo Clinic" - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 246041	NM_181882.3(PRX):c.4219T>G (p.Ser1407Ala)	PRX (S1407A)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +5 more	GUncertain significance
Select item 246123	NM_181882.3(PRX):c.3947C>T (p.Ala1316Val)	PRX (A1316V)	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4 +4 more	GConflicting classifications of pathogenicity
Select item 245824	NM_181882.3(PRX):c.3769G>A (p.Gly1257Arg)	PRX (G1257R)	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4 +4 more	GUncertain significance
Select item 216835	NM_181882.3(PRX):c.3496C>T (p.Pro1166Ser)	PRX (P1166S)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases +5 more	GConflicting classifications of pathogenicity
Select item 245663	NM_181882.3(PRX):c.3373G>A (p.Gly1125Ser)	PRX (G1125S)	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4 +6 more	GConflicting classifications of pathogenicity
Select item 329260	NM_181882.3(PRX):c.3209G>A (p.Arg1070Gln)	PRX (R1070Q)	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4F +4 more	GUncertain significance
Select item 245910	NM_181882.3(PRX):c.3186G>T (p.Lys1062Asn)	PRX (K1062N)	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4 +6 more	GConflicting classifications of pathogenicity
Select item 573889	NM_181882.3(PRX):c.2909G>A (p.Arg970Gln)	PRX (R970Q)	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4F +3 more	GUncertain significance
Select item 410603	NM_181882.3(PRX):c.2548C>G (p.Pro850Ala)	PRX (P850A)	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4 +5 more	GConflicting classifications of pathogenicity
Select item 216834	NM_181882.3(PRX):c.2254G>A (p.Glu752Lys)	PRX (E752K)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 242179	NM_181882.3(PRX):c.1574T>C (p.Val525Ala)	PRX (V525A)	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4 +5 more	GConflicting classifications of pathogenicity
Select item 4789	NM_181882.3(PRX):c.1102C>T (p.Arg368Ter)	PRX (R368*)	Single nucleotide variant (3 prime UTR variant +1 more)	Peripheral neuropathy +4 more	GPathogenic/Likely pathogenic
Select item 216836	NM_181882.3(PRX):c.823C>A (p.Leu275Ile)	PRX (L275I)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +6 more	GConflicting classifications of pathogenicity
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 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