Related gene-specific medical variations for Gene (Select 57716) - ClinVar

Links from Gene

Items: 93

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3248510	NC_000019.9:g.(?_40913793)_(40913839_?)del	PRX	Deletion	Charcot-Marie-Tooth disease type 4	GPathogenic
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 2916899	NM_181882.3(PRX):c.81C>G (p.Thr27=)	LOC130064454, PRX	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2826737	NM_181882.3(PRX):c.116_131del (p.Lys39fs)	LOC130064454, PRX (K39fs +1 more)	Deletion (frameshift variant)	Charcot-Marie-Tooth disease type 4	GPathogenic
Select item 2752080	NM_181882.3(PRX):c.105G>A (p.Ala35=)	LOC130064454, PRX	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2741786	NM_181882.3(PRX):c.28-4G>A	LOC130064454, PRX	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2716305	NM_181882.3(PRX):c.144C>T (p.Arg48=)	LOC130064454, PRX	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2689834	NM_181882.3(PRX):c.232_233delinsAC (p.Glu78Thr)	PRX (E173T +1 more)	Indel (missense variant)	not provided	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 2684314	NM_181882.3(PRX):c.1791G>A (p.Glu597=)	PRX	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2435270	NM_181882.3(PRX):c.3638T>C (p.Met1213Thr)	PRX (M1213T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2435269	NM_181882.3(PRX):c.2812C>T (p.Leu938Phe)	PRX (L1033F +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2435268	NM_181882.3(PRX):c.2383A>G (p.Met795Val)	PRX (M795V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2428601	NM_181882.3(PRX):c.381+41G>A	PRX (S141N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2364460	NM_181882.3(PRX):c.116A>G (p.Lys39Arg)	LOC130064454, PRX (K134R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2281796	NM_181882.3(PRX):c.103G>A (p.Ala35Thr)	LOC130064454, PRX (A35T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2164124	NM_181882.3(PRX):c.35G>C (p.Arg12Thr)	LOC130064454, PRX (R12T +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 2077129	NM_181882.3(PRX):c.113G>A (p.Gly38Asp)	LOC130064454, PRX (G133D +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 2074059	NM_181882.3(PRX):c.112G>C (p.Gly38Arg)	LOC130064454, PRX (G133R +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 2067133	NM_181882.3(PRX):c.140T>C (p.Leu47Pro)	LOC130064454, PRX (L47P +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 2065806	NM_181882.3(PRX):c.184+19T>G	LOC130064453, PRX	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2046193	NM_181882.3(PRX):c.130G>C (p.Val44Leu)	LOC130064454, PRX (V139L +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 2028869	NM_181882.3(PRX):c.28-13C>T	LOC130064454, PRX	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 1921575	NM_181882.3(PRX):c.28-14G>A	LOC130064454, PRX	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
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 1774592	NM_181882.3(PRX):c.152C>T (p.Ser51Leu)	LOC130064454, PRX (S146L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1768879	NM_181882.3(PRX):c.99C>G (p.Asn33Lys)	LOC130064454, PRX (N33K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1694915	NM_181882.3(PRX):c.156C>A (p.Pro52=)	LOC130064454, PRX	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1622722	NM_181882.3(PRX):c.138G>A (p.Glu46=)	LOC130064454, PRX	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 1607526	NM_181882.3(PRX):c.159C>G (p.Ala53=)	LOC130064454, PRX	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 1587808	NM_181882.3(PRX):c.28-20C>T	LOC130064454, PRX	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 1472563	NM_181882.3(PRX):c.119A>C (p.Glu40Ala)	LOC130064454, PRX (E40A)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 1405129	NM_181882.3(PRX):c.151T>C (p.Ser51Pro)	LOC130064454, PRX (S51P)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 1330927	NM_181882.3(PRX):c.2230G>A (p.Glu744Lys)	PRX (E744K)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1330464	NM_181882.3(PRX):c.993G>T (p.Pro331=)	PRX	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1323502	NM_181882.3(PRX):c.2602del (p.Gln868fs)	PRX (Q868fs)	Deletion (3 prime UTR variant +1 more)	not provided	GPathogenic
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 1247455	NM_181882.3(PRX):c.184+117dup	LOC130064453, PRX	Duplication (intron variant)	not provided	GBenign
Select item 1244914	NM_181882.3(PRX):c.-100+25C>T	LOC130064456, PRX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1195785	NM_181882.3(PRX):c.28-92_28-83dup	LOC130064454, PRX	Duplication (intron variant)	not provided	GLikely benign
Select item 1188627	NM_181882.3(PRX):c.184+51G>T	LOC130064453, PRX	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1104932	NM_181882.3(PRX):c.120G>A (p.Glu40=)	LOC130064454, PRX	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 1103922	NM_181882.3(PRX):c.69G>A (p.Thr23=)	LOC130064454, PRX	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4 +1 more	GLikely benign
Select item 1062705	NM_181882.3(PRX):c.148G>T (p.Asp50Tyr)	LOC130064454, PRX (D50Y)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4 +1 more	GUncertain significance
Select item 1014853	NM_181882.3(PRX):c.104C>T (p.Ala35Val)	LOC130064454, PRX (A35V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1010013	NM_181882.3(PRX):c.154C>A (p.Pro52Thr)	LOC130064454, PRX (P52T)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4 +1 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 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 961704	NM_181882.3(PRX):c.138G>C (p.Glu46Asp)	LOC130064454, PRX (E46D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 943889	NM_181882.3(PRX):c.134G>C (p.Arg45Pro)	LOC130064454, PRX (R45P)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 933926	NM_181882.3(PRX):c.82G>A (p.Gly28Arg)	LOC130064454, PRX (G28R)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4	GUncertain significance
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 916923	NM_181882.3(PRX):c.158C>A (p.Ala53Asp)	LOC130064454, PRX (A53D)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease +1 more	GUncertain significance
Select item 916824	NM_181882.3(PRX):c.44A>G (p.Glu15Gly)	LOC130064454, PRX (E15G)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 916821	NM_181882.3(PRX):c.122del (p.Gly41fs)	LOC130064454, PRX (G41fs)	Deletion (frameshift variant)	Charcot-Marie-Tooth disease	GLikely pathogenic
Select item 916820	NM_181882.3(PRX):c.122_124delinsAAGCTGCGCGAGGAAGCTGC (p.Gly41fs)	LOC130064454, PRX (G41fs)	Indel (frameshift variant)	Charcot-Marie-Tooth disease	GLikely pathogenic
Select item 916818	NM_181882.3(PRX):c.121_122insAAGCTGCGCGAG (p.Glu40_Gly41insGluAlaAlaArg)	LOC130064454, PRX	Insertion (inframe_insertion)	Charcot-Marie-Tooth disease	GPathogenic
Select item 916817	NM_181882.3(PRX):c.124_125insGCTGC (p.Ile42fs)	LOC130064454, PRX (I42fs)	Insertion (frameshift variant)	Charcot-Marie-Tooth disease	GPathogenic
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 838311	NM_181882.3(PRX):c.59T>C (p.Ile20Thr)	LOC130064454, PRX (I20T)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 808580	NM_181882.3(PRX):c.3766G>C (p.Val1256Leu)	PRX (V1256L)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 805246	NM_181882.3(PRX):c.104C>A (p.Ala35Glu)	LOC130064454, PRX (A35E)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 796606	NM_181882.3(PRX):c.135G>C (p.Arg45=)	LOC130064454, PRX	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 764257	NM_181882.3(PRX):c.108C>G (p.Gly36=)	LOC130064454, PRX	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 699449	NM_181882.3(PRX):c.81C>T (p.Thr27=)	LOC130064454, PRX	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 694924	NM_181882.3(PRX):c.119_120del (p.Glu40fs)	LOC130064454, PRX (E40fs)	Microsatellite (frameshift variant)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 694923	NM_181882.3(PRX):c.381+22C>A	PRX (P135T)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 694919	NM_181882.3(PRX):c.2579A>C (p.Asp860Ala)	PRX (D860A)	Single nucleotide variant (3 prime UTR variant +1 more)	Distal spinal muscular atrophy	GUncertain significance
Select item 694918	NM_181882.3(PRX):c.2603A>G (p.Gln868Arg)	PRX (Q868R)	Single nucleotide variant (3 prime UTR variant +1 more)	Distal spinal muscular atrophy	GUncertain significance
Select item 694917	NM_181882.3(PRX):c.2611G>C (p.Val871Leu)	PRX (V871L)	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 694916	NM_181882.3(PRX):c.2612T>C (p.Val871Ala)	PRX (V871A)	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease +2 more	GUncertain significance
Select item 694915	NM_181882.3(PRX):c.2615dup (p.Ala873fs)	PRX (A873fs)	Duplication (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 694912	NM_181882.3(PRX):c.3925C>G (p.Pro1309Ala)	PRX (P1309A)	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 694910	NM_181882.3(PRX):c.4312C>G (p.Pro1438Ala)	PRX (P1438A)	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 668603	NM_181882.3(PRX):c.28-52G>A	LOC130064454, PRX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 637400	NM_181882.3(PRX):c.116_117del (p.Lys39fs)	LOC130064454, PRX (K39fs)	Deletion (frameshift variant)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 637399	NM_181882.3(PRX):c.145G>T (p.Glu49Ter)	LOC130064454, PRX (E49*)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 637392	NM_181882.3(PRX):c.124_125dup (p.Phe43fs)	LOC130064454, PRX (F43fs)	Duplication (frameshift variant)	Charcot-Marie-Tooth disease	GPathogenic
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 543484	NM_181882.3(PRX):c.75G>A (p.Ala25=)	LOC130064454, PRX	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 543312	NM_181882.3(PRX):c.62T>C (p.Val21Ala)	LOC130064454, PRX (V21A)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 513758	NM_181882.3(PRX):c.108C>A (p.Gly36=)	LOC130064454, PRX	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4 +2 more	GLikely benign
Select item 512272	NM_181882.3(PRX):c.102A>C (p.Val34=)	LOC130064454, PRX	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4 +2 more	GLikely benign
Select item 503915	NM_181882.3(PRX):c.123_124dup (p.Ile42fs)	LOC130064454, PRX (I42fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 476980	NM_181882.3(PRX):c.74C>A (p.Ala25Glu)	LOC130064454, PRX (A25E)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 448135	NM_181882.3(PRX):c.134G>A (p.Arg45Gln)	LOC130064454, PRX (R45Q)	Single nucleotide variant (missense variant)	not specified +2 more	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)	not provided +1 more	GConflicting classifications of pathogenicity
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 246547	NM_181882.3(PRX):c.121G>A (p.Gly41Arg)	LOC130064454, PRX (G41R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 246066	NM_181882.3(PRX):c.85G>A (p.Val29Ile)	LOC130064454, PRX (V29I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance

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Items: 93