"Athena Diagnostics"[submitter] AND "PRX"[gene] - ClinVar

Search results

Items: 77

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1035820	NM_181882.3(PRX):c.4334C>T (p.Thr1445Ile)	PRX (T1445I)	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4 +2 more	GUncertain significance
Select item 543381	NM_181882.3(PRX):c.4244_4246dup (p.Val1415_Ser1416insLeu)	PRX	Duplication (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4 +2 more	GConflicting classifications of pathogenicity
Select item 663881	NM_181882.3(PRX):c.4232G>T (p.Arg1411Leu)	PRX (R1411L)	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4 +1 more	GUncertain significance
Select item 476969	NM_181882.3(PRX):c.4117C>T (p.Arg1373Trp)	PRX (R1373W)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 242184	NM_181882.3(PRX):c.4059GGA[5] (p.Glu1360_Glu1361del)	PRX	Microsatellite (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease +2 more	GBenign/Likely benign
Select item 215547	NM_181882.3(PRX):c.4059GGA[6] (p.Glu1361del)	PLD3, PRX (E1361del)	Microsatellite (inframe_deletion +1 more)	Charcot-Marie-Tooth disease type 4 +5 more	GBenign
Select item 654826	NM_181882.3(PRX):c.4017C>A (p.Ser1339Arg)	PRX (S1339R)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +3 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 642971	NM_181882.3(PRX):c.3886G>C (p.Gly1296Arg)	PRX (G1296R)	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4 +2 more	GUncertain significance
Select item 694913	NM_181882.3(PRX):c.3873C>G (p.Tyr1291Ter)	PRX (Y1291*)	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4 +1 more	GUncertain significance
Select item 329253	NM_181882.3(PRX):c.3846G>A (p.Ser1282=)	PRX	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease +5 more	GBenign/Likely benign
Select item 916927	NM_181882.3(PRX):c.3768G>T (p.Val1256=)	PRX	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +2 more	GLikely benign
Select item 586381	NM_181882.3(PRX):c.3722G>A (p.Gly1241Asp)	PRX (G1241D)	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4F +2 more	GUncertain significance
Select item 2684316	NM_181882.3(PRX):c.3718G>A (p.Glu1240Lys)	PRX (E1240K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 994926	NM_181882.3(PRX):c.3640C>T (p.Pro1214Ser)	PRX (P1214S)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 448140	NM_181882.3(PRX):c.3611del (p.Leu1204fs)	PRX (L1204fs)	Deletion (3 prime UTR variant +1 more)	not provided	GPathogenic
Select item 410604	NM_181882.3(PRX):c.3580C>G (p.Leu1194Val)	PRX (L1194V)	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4 +3 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 130053	NM_181882.3(PRX):c.3394G>A (p.Gly1132Arg)	PRX (G1132R)	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4F +5 more	GBenign
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 448139	NM_181882.3(PRX):c.3286_3356del (p.Ile1096fs)	PRX	Deletion (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4 +2 more	GPathogenic/Likely pathogenic
Select item 1256346	NM_181882.3(PRX):c.3351C>T (p.Ala1117=)	PRX	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4 +1 more	GLikely benign
Select item 448138	NM_181882.3(PRX):c.3248C>T (p.Pro1083Leu)	PRX (P1083L)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +1 more	GUncertain significance
Select item 130052	NM_181882.3(PRX):c.3248C>G (p.Pro1083Arg)	PRX (P1083R)	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4 +4 more	GBenign
Select item 329259	NM_181882.3(PRX):c.3218A>G (p.Glu1073Gly)	PRX (E1073G)	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease +4 more	GBenign
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 476963	NM_181882.3(PRX):c.3190C>T (p.Pro1064Ser)	PRX (P1064S)	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease +2 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 448137	NM_181882.3(PRX):c.2892C>G (p.Ile964Met)	PRX (I964M)	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4 +1 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 217239	NM_181882.3(PRX):c.2787del (p.Lys930fs)	PRX (K930fs)	Deletion (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4 +1 more	GPathogenic/Likely pathogenic
Select item 130050	NM_181882.3(PRX):c.2763A>G (p.Ile921Met)	PRX (I921M)	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4 +3 more	GBenign
Select item 329264	NM_181882.3(PRX):c.2727C>T (p.Pro909=)	PRX	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4F +4 more	GBenign
Select item 130049	NM_181882.3(PRX):c.2655T>C (p.Pro885=)	PRX	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4 +4 more	GBenign
Select item 130048	NM_181882.3(PRX):c.2645T>C (p.Val882Ala)	PRX (V882A)	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4 +5 more	GBenign
Select item 329265	NM_181882.3(PRX):c.2620G>A (p.Ala874Thr)	PRX (A874T)	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 378435	NM_181882.3(PRX):c.2469G>A (p.Ala823=)	PRX	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +5 more	GBenign/Likely benign
Select item 476958	NM_181882.3(PRX):c.2464G>A (p.Glu822Lys)	PRX (E822K)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GUncertain significance
Select item 994925	NM_181882.3(PRX):c.2450G>A (p.Arg817His)	PRX (R817H)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 245733	NM_181882.3(PRX):c.2449C>T (p.Arg817Cys)	PRX (R817C)	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4F +4 more	GUncertain significance
Select item 2684315	NM_181882.3(PRX):c.2404_2412del (p.Pro802_Met804del)	PRX	Deletion (inframe_deletion +2 more)	not provided	GUncertain significance
Select item 1256345	NM_181882.3(PRX):c.2384T>C (p.Met795Thr)	PRX (M795T)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 448136	NM_181882.3(PRX):c.2296G>A (p.Val766Met)	PRX (V766M)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
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 916911	NM_181882.3(PRX):c.2252C>T (p.Ser751Leu)	PRX (S751L)	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4 +2 more	GUncertain significance
Select item 4792	NM_181882.3(PRX):c.2145T>A (p.Cys715Ter)	PRX (C715*)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 329270	NM_181882.3(PRX):c.2017A>G (p.Met673Val)	PRX (M673V)	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4F +4 more	GBenign
Select item 1256344	NM_181882.3(PRX):c.1925C>T (p.Pro642Leu)	PRX (P642L)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 577945	NM_181882.3(PRX):c.1900_1914del (p.629MKLPE[1])	PRX	Deletion (inframe_deletion +1 more)	not provided +2 more	GUncertain significance
Select item 994924	NM_181882.3(PRX):c.1805A>C (p.Glu602Ala)	PRX (E602A)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2684314	NM_181882.3(PRX):c.1791G>A (p.Glu597=)	PRX	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 805247	NM_181882.3(PRX):c.1752G>C (p.Glu584Asp)	PRX (E584D)	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4 +1 more	GUncertain significance
Select item 862943	NM_181882.3(PRX):c.1568_1645del (p.Leu523_Leu548del)	PRX	Deletion (3 prime UTR variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
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 1807155	NM_181882.3(PRX):c.1490_1567del (p.Pro497_Leu522del)	PRX	Deletion (inframe_indel +2 more)	not provided	GUncertain significance
Select item 1714150	NM_181882.3(PRX):c.1523C>T (p.Pro508Leu)	PRX (P508L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 215545	NM_181882.3(PRX):c.1483G>C (p.Glu495Gln)	PRX (E495Q)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 329277	NM_181882.3(PRX):c.1281C>T (p.Ile427=)	PRX	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease +6 more	GBenign/Likely benign
Select item 220724	NM_181882.3(PRX):c.1216G>A (p.Ala406Thr)	PRX (A406T)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2684313	NM_181882.3(PRX):c.1134C>T (p.Ala378=)	PRX	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 543361	NM_181882.3(PRX):c.1100C>A (p.Ala367Asp)	PRX (A367D)	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4 +1 more	GUncertain significance
Select item 476984	NM_181882.3(PRX):c.993G>A (p.Pro331=)	PRX	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease +5 more	GConflicting classifications of pathogenicity
Select item 805250	NM_181882.3(PRX):c.899T>C (p.Leu300Ser)	PRX (L300S)	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4 +1 more	GUncertain significance
Select item 543387	NM_181882.3(PRX):c.839C>T (p.Pro280Leu)	PRX (P280L)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases +3 more	GUncertain significance
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 138817	NM_181882.3(PRX):c.731C>T (p.Ala244Val)	PRX (A244V)	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4F +4 more	GBenign/Likely benign
Select item 234825	NM_181882.3(PRX):c.707T>C (p.Leu236Pro)	PRX (L236P)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 805249	NM_181882.3(PRX):c.631G>A (p.Ala211Thr)	PRX (A211T)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 805248	NM_181882.3(PRX):c.625G>A (p.Ala209Thr)	PRX (A209T)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 448141	NM_181882.3(PRX):c.499C>T (p.Arg167Cys)	PRX (R167C)	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4 +2 more	GConflicting classifications of pathogenicity
Select item 972632	NM_181882.3(PRX):c.464A>T (p.Asp155Val)	PRX (D155V)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 130051	NM_181882.3(PRX):c.306C>T (p.Thr102=)	PRX	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign
Select item 940223	NM_181882.3(PRX):c.257G>A (p.Cys86Tyr)	PRX (C86Y)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 448135	NM_181882.3(PRX):c.134G>A (p.Arg45Gln)	LOC130064454, PRX (R45Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 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 805246	NM_181882.3(PRX):c.104C>A (p.Ala35Glu)	PRX, LOC130064454 (A35E)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4 +2 more	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 77