"Illumina Laboratory Services, Illumina"[submitter] AND "PRX"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 892625	NM_181882.3(PRX):c.*168C>A	PRX	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4F	GUncertain significance
Select item 329243	NM_181882.3(PRX):c.*152A>G	PRX	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4F	GUncertain significance
Select item 329244	NM_181882.3(PRX):c.*144C>T	PRX	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4F	GLikely benign
Select item 892626	NM_181882.3(PRX):c.*45C>T	PRX	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4F	GUncertain significance
Select item 329245	NM_181882.3(PRX):c.4376C>T (p.Ala1459Val)	PRX (A1459V)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
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 893429	NM_181882.3(PRX):c.4279G>T (p.Asp1427Tyr)	PRX (D1427Y)	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4F	GUncertain significance
Select item 242185	NM_181882.3(PRX):c.4171C>G (p.Arg1391Gly)	PRX (R1391G)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
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 4 +2 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 4 +2 more	GUncertain significance
Select item 329248	NM_181882.3(PRX):c.4111C>T (p.Arg1371Trp)	PRX (R1371W)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases +1 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 4 +2 more	GUncertain significance
Select item 329250	NM_181882.3(PRX):c.4044G>C (p.Gly1348=)	PRX	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +6 more	GBenign/Likely benign
Select item 705888	NM_181882.3(PRX):c.3963G>A (p.Glu1321=)	PRX	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4 +1 more	GConflicting classifications of pathogenicity
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 +4 more	GConflicting classifications of pathogenicity
Select item 893736	NM_181882.3(PRX):c.3926C>T (p.Pro1309Leu)	PRX (P1309L)	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4F	GUncertain significance
Select item 329251	NM_181882.3(PRX):c.3868G>A (p.Glu1290Lys)	PRX (E1290K)	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4 +1 more	GUncertain significance
Select item 329252	NM_181882.3(PRX):c.3849A>G (p.Pro1283=)	PRX	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 329253	NM_181882.3(PRX):c.3846G>A (p.Ser1282=)	PRX	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases +5 more	GBenign/Likely benign
Select item 382637	NM_181882.3(PRX):c.3802G>C (p.Ala1268Pro)	PRX (A1268P)	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4 +3 more	GConflicting classifications of pathogenicity
Select item 329254	NM_181882.3(PRX):c.3799G>A (p.Gly1267Arg)	PRX (G1267R)	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4 +2 more	GUncertain significance
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 476966	NM_181882.3(PRX):c.3708G>A (p.Ala1236=)	PRX	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease +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 +3 more	GBenign/Likely benign
Select item 894656	NM_181882.3(PRX):c.3686G>A (p.Arg1229Gln)	PRX (R1229Q)	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4 +1 more	GUncertain significance
Select item 837941	NM_181882.3(PRX):c.3673G>A (p.Val1225Met)	PRX (V1225M)	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4 +1 more	GConflicting classifications of pathogenicity
Select item 329256	NM_181882.3(PRX):c.3549C>T (p.Tyr1183=)	PRX	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases +5 more	GConflicting classifications of pathogenicity
Select item 216835	NM_181882.3(PRX):c.3496C>T (p.Pro1166Ser)	PRX (P1166S)	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4F +5 more	GConflicting classifications of pathogenicity
Select item 894657	NM_181882.3(PRX):c.3401T>C (p.Val1134Ala)	PRX (V1134A)	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4F	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)	Tip-toe gait +6 more	GConflicting classifications of pathogenicity
Select item 329257	NM_181882.3(PRX):c.3271G>A (p.Ala1091Thr)	PRX (A1091T)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +4 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)	not specified +3 more	GBenign
Select item 329258	NM_181882.3(PRX):c.3220G>A (p.Ala1074Thr)	PRX (A1074T)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 329259	NM_181882.3(PRX):c.3218A>G (p.Glu1073Gly)	PRX (E1073G)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +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)	Inborn genetic diseases +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)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 329261	NM_181882.3(PRX):c.2933A>G (p.Lys978Arg)	PRX (K978R)	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4F	GUncertain significance
Select item 573889	NM_181882.3(PRX):c.2909G>A (p.Arg970Gln)	PRX (R970Q)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +3 more	GUncertain significance
Select item 893460	NM_181882.3(PRX):c.2850G>C (p.Gly950=)	PRX	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4F +1 more	GConflicting classifications of pathogenicity
Select item 386663	NM_181882.3(PRX):c.2832T>C (p.Ala944=)	PRX	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +4 more	GConflicting classifications of pathogenicity
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 +4 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 329263	NM_181882.3(PRX):c.2746G>C (p.Gly916Arg)	PRX (G916R)	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4F	GUncertain significance
Select item 410602	NM_181882.3(PRX):c.2728G>A (p.Ala910Thr)	PRX (A910T)	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4 +2 more	GConflicting classifications of pathogenicity
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 +4 more	GBenign
Select item 697161	NM_181882.3(PRX):c.2715C>A (p.Thr905=)	PRX	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease +3 more	GConflicting classifications of pathogenicity
Select item 893764	NM_181882.3(PRX):c.2697C>T (p.Pro899=)	PRX	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4F	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 type 4 +4 more	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 130048	NM_181882.3(PRX):c.2645T>C (p.Val882Ala)	PRX (V882A)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +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 4 +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 329266	NM_181882.3(PRX):c.2536C>T (p.His846Tyr)	PRX (H846Y)	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4F	GUncertain significance
Select item 894681	NM_181882.3(PRX):c.2509C>T (p.Leu837=)	PRX	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4 +1 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)	Charcot-Marie-Tooth disease +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)	PRX-related condition +4 more	GUncertain significance
Select item 894682	NM_181882.3(PRX):c.2306C>T (p.Pro769Leu)	PRX (P769L)	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4 +2 more	GUncertain significance
Select item 329267	NM_181882.3(PRX):c.2292C>G (p.Pro764=)	PRX	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 892698	NM_181882.3(PRX):c.2283G>A (p.Pro761=)	PRX	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4 +1 more	GConflicting classifications of pathogenicity
Select item 410601	NM_181882.3(PRX):c.2282C>T (p.Pro761Leu)	PRX (P761L)	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4 +1 more	GUncertain significance
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)	Charcot-Marie-Tooth disease type 4F +6 more	GConflicting classifications of pathogenicity
Select item 476957	NM_181882.3(PRX):c.2229C>T (p.Pro743=)	PRX	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4F +2 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)	Inborn genetic diseases +3 more	GUncertain significance
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 type 4 +3 more	GBenign/Likely benign
Select item 329269	NM_181882.3(PRX):c.2071A>C (p.Met691Leu)	PRX (M691L)	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4F	GUncertain significance
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 +4 more	GBenign
Select item 329271	NM_181882.3(PRX):c.1964C>T (p.Pro655Leu)	PRX (P655L)	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4 +4 more	GBenign/Likely benign
Select item 329272	NM_181882.3(PRX):c.1891C>G (p.Leu631Val)	PRX (L631V)	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4F	GUncertain significance
Select item 893495	NM_181882.3(PRX):c.1869T>G (p.Leu623=)	PRX	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4F	GUncertain significance
Select item 893496	NM_181882.3(PRX):c.1868T>G (p.Leu623Arg)	PRX (L623R)	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4 +1 more	GUncertain significance
Select item 215546	NM_181882.3(PRX):c.1836C>T (p.Ala612=)	PRX	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4F +4 more	GBenign/Likely benign
Select item 329273	NM_181882.3(PRX):c.1828G>A (p.Glu610Lys)	PRX (E610K)	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4 +3 more	GUncertain significance
Select item 893793	NM_181882.3(PRX):c.1818G>A (p.Pro606=)	PRX	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease +2 more	GConflicting classifications of pathogenicity
Select item 893794	NM_181882.3(PRX):c.1777A>G (p.Met593Val)	PRX (M593V)	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4 +1 more	GUncertain significance
Select item 245732	NM_181882.3(PRX):c.1651G>A (p.Val551Met)	PRX (V551M)	Single nucleotide variant (3 prime UTR variant +1 more)	PRX-related condition +5 more	GConflicting classifications of pathogenicity
Select item 329274	NM_181882.3(PRX):c.1625G>A (p.Arg542Gln)	PRX (R542Q)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +4 more	GBenign/Likely benign
Select item 416226	NM_181882.3(PRX):c.1624C>T (p.Arg542Trp)	PRX (R542W)	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4F +3 more	GLikely benign
Select item 242179	NM_181882.3(PRX):c.1574T>C (p.Val525Ala)	PRX (V525A)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 329275	NM_181882.3(PRX):c.1568T>C (p.Leu523Pro)	PRX (L523P)	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4 +2 more	GConflicting classifications of pathogenicity
Select item 835178	NM_181882.3(PRX):c.1547G>A (p.Arg516Gln)	PRX (R516Q)	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4 +1 more	GUncertain significance
Select item 246316	NM_181882.3(PRX):c.1546C>T (p.Arg516Trp)	PRX (R516W)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 329276	NM_181882.3(PRX):c.1500A>G (p.Ser500=)	PRX	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4 +4 more	GConflicting classifications of pathogenicity
Select item 215545	NM_181882.3(PRX):c.1483G>C (p.Glu495Gln)	PRX (E495Q)	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4F +3 more	GBenign/Likely benign
Select item 476949	NM_181882.3(PRX):c.1369G>A (p.Glu457Lys)	PRX (E457K)	Single nucleotide variant (3 prime UTR variant +1 more)	PRX-related condition +4 more	GConflicting classifications of pathogenicity
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 type 4 +6 more	GBenign/Likely benign
Select item 220724	NM_181882.3(PRX):c.1216G>A (p.Ala406Thr)	PRX (A406T)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease +3 more	GConflicting classifications of pathogenicity
Select item 543461	NM_181882.3(PRX):c.1215C>T (p.Pro405=)	PRX	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 329278	NM_181882.3(PRX):c.1087C>G (p.Pro363Ala)	PRX (P363A)	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4F	GUncertain significance
Select item 220690	NM_181882.3(PRX):c.1051C>T (p.Pro351Ser)	PRX (P351S)	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease +3 more	GBenign
Select item 476947	NM_181882.3(PRX):c.1026A>C (p.Ala342=)	PRX	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 476984	NM_181882.3(PRX):c.993G>A (p.Pro331=)	PRX	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases +5 more	GConflicting classifications of pathogenicity
Select item 652703	NM_181882.3(PRX):c.992C>T (p.Pro331Leu)	PRX (P331L)	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4 +2 more	GUncertain significance
Select item 329279	NM_181882.3(PRX):c.966G>T (p.Val322=)	PRX	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4 +3 more	GConflicting classifications of pathogenicity
Select item 329280	NM_181882.3(PRX):c.960G>A (p.Ser320=)	PRX	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4 +4 more	GConflicting classifications of pathogenicity
Select item 700201	NM_181882.3(PRX):c.944G>A (p.Arg315Gln)	PRX (R315Q)	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease +3 more	GConflicting classifications of pathogenicity
Select item 892732	NM_181882.3(PRX):c.943C>T (p.Arg315Trp)	PRX (R315W)	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4F +2 more	GConflicting classifications of pathogenicity
Select item 242187	NM_181882.3(PRX):c.922A>G (p.Thr308Ala)	PRX (T308A)	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease +4 more	GUncertain significance
Select item 893518	NM_181882.3(PRX):c.844G>C (p.Ala282Pro)	PRX (A282P)	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4F	GUncertain significance

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