ClinVar for MedGen (Select 761704) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064376	NM_181882.3(PRX):c.3397C>T (p.Gln1133Ter)	PRX (Q1133* +1 more)	Single nucleotide variant (nonsense +1 more)	Charcot-Marie-Tooth disease type 4F	GUncertain significance
Select item 1687279	NM_181882.3(PRX):c.3098del (p.Thr1033fs)	PRX (T1033fs)	Deletion (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4F +1 more	GPathogenic/Likely pathogenic
Select item 1503566	NM_181882.3(PRX):c.2790G>C (p.Lys930Asn)	PRX (K930N)	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4 +3 more	GUncertain significance
Select item 1324966	NM_181882.3(PRX):c.2581del (p.Leu861fs)	PRX (L861fs)	Deletion (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4F	GPathogenic
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 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 958213	NM_181882.3(PRX):c.231C>A (p.Tyr77Ter)	PRX (Y77*)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease type 4	GPathogenic
Select item 930783	NM_181882.3(PRX):c.1561C>T (p.Gln521Ter)	PRX (Q521*)	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4F	GLikely pathogenic
Select item 916823	NM_181882.3(PRX):c.3767T>G (p.Val1256Gly)	PRX (V1256G)	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4F +1 more	GUncertain significance
Select item 894742	NM_181882.3(PRX):c.184+3G>T	PRX	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4F	GUncertain significance
Select item 894741	NM_181882.3(PRX):c.445G>T (p.Ala149Ser)	PRX (A149S)	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4F	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 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 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 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 893820	NM_181882.3(PRX):c.575G>A (p.Arg192Gln)	PRX (R192Q)	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4 +1 more	GUncertain significance
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 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 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 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 893519	NM_181882.3(PRX):c.825C>T (p.Leu275=)	PRX	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4 +2 more	GConflicting classifications of pathogenicity
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
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 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 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 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 892755	NM_181882.3(PRX):c.-100+10C>T	LOC130064456, PRX	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4F	GUncertain significance
Select item 892732	NM_181882.3(PRX):c.943C>T (p.Arg315Trp)	PRX (R315W)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases +2 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)	Inborn genetic diseases +3 more	GUncertain significance
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 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 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 847198	NM_181882.3(PRX):c.553C>T (p.Arg185Cys)	PRX (R185C)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases +2 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 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 810637	NM_181882.3(PRX):c.27+1G>T	PRX	Single nucleotide variant (splice donor variant)	Charcot-Marie-Tooth disease type 4F	GLikely pathogenic
Select item 800938	NM_181882.3(PRX):c.3085A>T (p.Arg1029Ter)	PRX (R1029*)	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4F	GLikely pathogenic
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 4F +1 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 type 4F +2 more	GConflicting classifications of pathogenicity
Select item 698970	NM_181882.3(PRX):c.732G>A (p.Ala244=)	PRX	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4 +1 more	GConflicting classifications of pathogenicity
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 653288	NM_181882.3(PRX):c.627del (p.Ala210fs)	PRX (A210fs)	Deletion (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4 +1 more	GPathogenic
Select item 652703	NM_181882.3(PRX):c.992C>T (p.Pro331Leu)	PRX (P331L)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 637915	NM_181882.3(PRX):c.385_394dup (p.Leu132fs)	PRX (L132fs)	Duplication (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease +1 more	GConflicting classifications of pathogenicity
Select item 637393	NM_181882.3(PRX):c.1194_1197del (p.Leu400fs)	PRX (L400fs)	Deletion (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease +1 more	GConflicting classifications of pathogenicity
Select item 634532	NM_181882.3(PRX):c.979del (p.Asp327fs)	PRX (D327fs)	Deletion (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4F	GPathogenic
Select item 634531	NM_181882.3(PRX):c.4318G>A (p.Val1440Met)	PRX (V1440M)	Single nucleotide variant (3 prime UTR variant +1 more)	Dejerine-Sottas disease +2 more	GUncertain significance
Select item 586381	NM_181882.3(PRX):c.3722G>A (p.Gly1241Asp)	PRX (G1241D)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +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 +1 more	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)	Inborn genetic diseases +3 more	GUncertain significance
Select item 549686	NM_181882.3(PRX):c.3703G>T (p.Glu1235Ter)	PRX (E1235*)	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4F	GPathogenic
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
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 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 +3 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)	Inborn genetic diseases +5 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 type 4 +5 more	GConflicting classifications of pathogenicity
Select item 476983	NM_181882.3(PRX):c.848T>G (p.Val283Gly)	PRX (V283G)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 476979	NM_181882.3(PRX):c.719G>A (p.Arg240Gln)	PRX (R240Q)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases +3 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 476957	NM_181882.3(PRX):c.2229C>T (p.Pro743=)	PRX	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
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 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 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 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 4 +2 more	GConflicting classifications of pathogenicity
Select item 410606	NM_181882.3(PRX):c.1483_1560del (p.469ELPKVSEMKLPKVPEMAVPEVRLPEV[1])	PRX	Deletion (inframe_deletion +1 more)	not provided +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 410602	NM_181882.3(PRX):c.2728G>A (p.Ala910Thr)	PRX (A910T)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases +2 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 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 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 4 +4 more	GConflicting classifications of pathogenicity
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 378435	NM_181882.3(PRX):c.2469G>A (p.Ala823=)	PRX	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases +5 more	GBenign/Likely benign
Select item 329297	NM_181882.3(PRX):c.-236G>A	PRX	Single nucleotide variant (5 prime UTR variant)	Charcot-Marie-Tooth disease type 4F +1 more	GLikely benign
Select item 329296	NM_181882.3(PRX):c.-199+7G>C	PRX	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4F	GUncertain significance
Select item 329295	NM_181882.3(PRX):c.-198-14C>T	PRX	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4F	GUncertain significance
Select item 329294	NM_181882.3(PRX):c.-160C>T	LOC130064456, PRX	Single nucleotide variant (5 prime UTR variant)	Charcot-Marie-Tooth disease type 4F	GUncertain significance
Select item 329293	NM_181882.3(PRX):c.-143G>A	LOC130064456, PRX	Single nucleotide variant (5 prime UTR variant)	Charcot-Marie-Tooth disease type 4F	GUncertain significance
Select item 329292	NM_181882.3(PRX):c.-114T>G	LOC130064456, PRX	Single nucleotide variant (5 prime UTR variant)	Charcot-Marie-Tooth disease type 4F +1 more	GConflicting classifications of pathogenicity
Select item 329290	NM_181882.3(PRX):c.237C>T (p.Asp79=)	PRX	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4 +3 more	GConflicting classifications of pathogenicity
Select item 329289	NM_181882.3(PRX):c.379C>T (p.Leu127=)	PRX	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4 +1 more	GConflicting classifications of pathogenicity
Select item 329288	NM_181882.3(PRX):c.471G>A (p.Glu157=)	PRX	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4F +3 more	GBenign
Select item 329287	NM_181882.3(PRX):c.493C>T (p.Arg165Cys)	PRX (R165C)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 329286	NM_181882.3(PRX):c.500G>C (p.Arg167Pro)	PRX (R167P)	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease +4 more	GUncertain significance
Select item 329285	NM_181882.3(PRX):c.539C>T (p.Pro180Leu)	PRX (P180L)	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease +1 more	GUncertain significance
Select item 329284	NM_181882.3(PRX):c.554G>A (p.Arg185His)	PRX (R185H)	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4 +3 more	GBenign/Likely benign
Select item 329283	NM_181882.3(PRX):c.597C>T (p.Ala199=)	PRX	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 329282	NM_181882.3(PRX):c.683G>A (p.Arg228His)	PRX (R228H)	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4 +2 more	GConflicting classifications of pathogenicity
Select item 329281	NM_181882.3(PRX):c.833C>T (p.Pro278Leu)	PRX (P278L)	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4F +1 more	GUncertain significance
Select item 329280	NM_181882.3(PRX):c.960G>A (p.Ser320=)	PRX	Single nucleotide variant (3 prime UTR variant +1 more)	PRX-related condition +4 more	GConflicting classifications of pathogenicity
Select item 329279	NM_181882.3(PRX):c.966G>T (p.Val322=)	PRX	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases +3 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 329277	NM_181882.3(PRX):c.1281C>T (p.Ile427=)	PRX	Single nucleotide variant (3 prime UTR variant +1 more)	Dejerine-Sottas disease +6 more	GBenign/Likely benign
Select item 329276	NM_181882.3(PRX):c.1500A>G (p.Ser500=)	PRX	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases +4 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)	Inborn genetic diseases +2 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)	Dejerine-Sottas disease +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 +3 more	GUncertain significance
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 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 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 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

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