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

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1258460	NC_000019.10:g.40393737C>T	PRX	Single nucleotide variant	not provided	GBenign
Select item 543398	NM_181882.3(PRX):c.4366G>C (p.Ala1456Pro)	PRX (A1456P)	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4 +2 more	GUncertain significance
Select item 1305911	NM_181882.3(PRX):c.4352C>T (p.Ala1451Val)	PRX (A1451V)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1196265	NM_181882.3(PRX):c.4350G>A (p.Pro1450=)	PRX	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 917233	NM_181882.3(PRX):c.4335_4336del (p.Ala1447fs)	PRX (A1447fs)	Deletion (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4 +2 more	GUncertain significance
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 1305050	NM_181882.3(PRX):c.4283A>C (p.Gln1428Pro)	PRX (Q1428P)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	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 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 383597	NM_181882.3(PRX):c.4206C>T (p.Pro1402=)	PRX	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases +2 more	GLikely benign
Select item 329246	NM_181882.3(PRX):c.4157C>A (p.Pro1386His)	PRX (P1386H)	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4F +2 more	GUncertain significance
Select item 389318	NM_181882.3(PRX):c.4152G>A (p.Ala1384=)	PRX	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases +2 more	GLikely benign
Select item 1061285	NM_181882.3(PRX):c.4151C>T (p.Ala1384Val)	PRX (A1384V)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1738131	NM_181882.3(PRX):c.4139G>A (p.Arg1380His)	PRX (R1380H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 245902	NM_181882.3(PRX):c.4129C>T (p.Arg1377Cys)	PRX (R1377C)	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4 +2 more	GUncertain significance
Select item 246575	NM_181882.3(PRX):c.4112G>A (p.Arg1371Gln)	PRX (R1371Q)	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease +3 more	GUncertain significance
Select item 329249	NM_181882.3(PRX):c.4109G>A (p.Arg1370His)	PRX (R1370H)	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4F +2 more	GUncertain significance
Select item 699561	NM_181882.3(PRX):c.4059GGA[8] (p.Glu1361dup)	PRX	Microsatellite (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease +3 more	GConflicting classifications of pathogenicity
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 329250	NM_181882.3(PRX):c.4044G>C (p.Gly1348=)	PRX	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases +6 more	GBenign/Likely benign
Select item 1465252	NM_181882.3(PRX):c.3961G>A (p.Glu1321Lys)	PRX (E1321K)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 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 543487	NM_181882.3(PRX):c.3939G>A (p.Leu1313=)	PRX	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4 +3 more	GLikely benign
Select item 917168	NM_181882.3(PRX):c.3928C>T (p.Arg1310Trp)	PRX (R1310W)	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4 +2 more	GUncertain significance
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 513203	NM_181882.3(PRX):c.3856G>A (p.Gly1286Ser)	PRX (G1286S)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 516517	NM_181882.3(PRX):c.3852C>T (p.Ser1284=)	PRX	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease type 4 +2 more	GBenign/Likely benign
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 246537	NM_181882.3(PRX):c.3845C>T (p.Ser1282Leu)	PRX (S1282L)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GUncertain significance
Select item 391561	NM_181882.3(PRX):c.3831C>G (p.Pro1277=)	PRX	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease +3 more	GLikely benign
Select item 382637	NM_181882.3(PRX):c.3802G>C (p.Ala1268Pro)	PRX (A1268P)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 387796	NM_181882.3(PRX):c.3775G>A (p.Glu1259Lys)	PRX (E1259K)	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4 +2 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 476966	NM_181882.3(PRX):c.3708G>A (p.Ala1236=)	PRX	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 329255	NM_181882.3(PRX):c.3702C>T (p.Gly1234=)	PRX	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4F +4 more	GBenign/Likely benign
Select item 2499202	NM_181882.3(PRX):c.3685C>T (p.Arg1229Ter)	PRX (R1229* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely pathogenic
Select item 245707	NM_181882.3(PRX):c.3656C>T (p.Pro1219Leu)	PRX (P1219L)	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease +3 more	GUncertain significance
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 1313038	NM_181882.3(PRX):c.3527CAG[1] (p.Ala1177del)	PRX (A1177del)	Microsatellite (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4 +2 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 1002754	NM_181882.3(PRX):c.3422C>T (p.Ala1141Val)	PRX (A1141V)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
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 389562	NM_181882.3(PRX):c.3366G>A (p.Gln1122=)	PRX	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +2 more	GLikely benign
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 1305476	NM_181882.3(PRX):c.3275T>G (p.Val1092Gly)	PRX (V1092G)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
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 637402	NM_181882.3(PRX):c.3198del (p.Phe1066fs)	PLD3, PRX (F1066fs)	Deletion (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4 +3 more	GPathogenic/Likely pathogenic
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 245745	NM_181882.3(PRX):c.3145G>A (p.Gly1049Ser)	PRX (G1049S)	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4 +1 more	GConflicting classifications of pathogenicity
Select item 596634	NM_181882.3(PRX):c.3110A>G (p.Glu1037Gly)	PRX (E1037G)	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4 +2 more	GConflicting classifications of pathogenicity
Select item 579741	NM_181882.3(PRX):c.3041T>C (p.Leu1014Pro)	PRX (L1014P)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 386972	NM_181882.3(PRX):c.2967C>G (p.Leu989=)	PRX	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +1 more	GLikely benign
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 386663	NM_181882.3(PRX):c.2832T>C (p.Ala944=)	PRX	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4F +3 more	GConflicting classifications of pathogenicity
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 817010	NM_181882.3(PRX):c.2775_2776insT (p.Lys926Ter)	PRX (K926*)	Insertion (3 prime UTR variant +1 more)	not provided	GLikely pathogenic
Select item 329262	NM_181882.3(PRX):c.2775C>T (p.Val925=)	PRX	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4F +5 more	GBenign/Likely benign
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 1306112	NM_181882.3(PRX):c.2701G>A (p.Val901Ile)	PRX (V901I)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 242181	NM_181882.3(PRX):c.2690G>A (p.Arg897Gln)	PRX (R897Q)	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease +4 more	GUncertain significance
Select item 450352	NM_181882.3(PRX):c.2681T>A (p.Val894Glu)	PRX (V894E)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
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 3340557	NM_181882.3(PRX):c.2646G>A (p.Val882=)	PRX	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 476960	NM_181882.3(PRX):c.2641C>A (p.Arg881=)	PRX	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease +3 more	GLikely benign
Select item 416227	NM_181882.3(PRX):c.2619C>T (p.Ala873=)	PRX	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4 +2 more	GLikely benign
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 668185	NM_181882.3(PRX):c.2496A>T (p.Val832=)	PRX	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GLikely benign
Select item 380125	NM_181882.3(PRX):c.2494G>C (p.Val832Leu)	PRX (V832L)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 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 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 388104	NM_181882.3(PRX):c.2307G>A (p.Pro769=)	PRX	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4 +3 more	GLikely benign
Select item 1307241	NM_181882.3(PRX):c.2300A>G (p.His767Arg)	PRX (H767R)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 429513	NM_181882.3(PRX):c.2282_2284del (p.Pro761_Lys762delinsGln)	PRX	Deletion (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 430168	NM_181882.3(PRX):c.2278G>A (p.Val760Met)	PRX (V760M)	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4 +2 more	GUncertain significance
Select item 381401	NM_181882.3(PRX):c.2268G>A (p.Pro756=)	PRX	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases +2 more	GLikely benign
Select item 512600	NM_181882.3(PRX):c.2265G>A (p.Leu755=)	PRX	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases +2 more	GLikely benign
Select item 892699	NM_181882.3(PRX):c.2261G>A (p.Arg754Gln)	PRX (R754Q)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +3 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 329268	NM_181882.3(PRX):c.2215G>A (p.Asp739Asn)	PRX (D739N)	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4F +3 more	GUncertain significance
Select item 388340	NM_181882.3(PRX):c.2164A>G (p.Met722Val)	PRX (M722V)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
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 242180	NM_181882.3(PRX):c.2101G>A (p.Val701Met)	PRX (V701M)	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease +3 more	GBenign/Likely benign
Select item 289454	NM_181882.3(PRX):c.2043C>T (p.Pro681=)	PRX	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +4 more	GBenign/Likely benign
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 3367707	NM_181882.3(PRX):c.1974G>T (p.Gln658His)	PRX (Q658H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 329271	NM_181882.3(PRX):c.1964C>T (p.Pro655Leu)	PRX (P655L)	Single nucleotide variant (3 prime UTR variant +1 more)	Dejerine-Sottas disease +4 more	GBenign/Likely benign
Select item 1695776	NM_181882.3(PRX):c.1936G>C (p.Glu646Gln)	PRX (E646Q)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 449754	NM_181882.3(PRX):c.1911_1925del (p.Glu638_Pro642del)	PRX	Deletion (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 449753	NM_181882.3(PRX):c.1900A>G (p.Met634Val)	PRX (M634V)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 508197	NM_181882.3(PRX):c.1827C>T (p.Pro609=)	PRX	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +3 more	GLikely benign
Select item 234731	NM_181882.3(PRX):c.1825C>T (p.Pro609Ser)	PRX (P609S)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 917170	NM_181882.3(PRX):c.1797A>T (p.Lys599Asn)	PRX (K599N)	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4 +3 more	GUncertain significance
Select item 387483	NM_181882.3(PRX):c.1725G>A (p.Pro575=)	PRX	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4 +2 more	GLikely benign
Select item 510793	NM_181882.3(PRX):c.1680A>C (p.Ser560=)	PRX	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases +2 more	GLikely benign

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