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Items: 1 to 100 of 1318

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130064390, LOC130064391
+2135 more
Copy number gain
See cases
GPathogenic
ACP7, ACTMAP
+514 more
Copy number gain
See cases
GPathogenic
PRX
Single nucleotide variant
not provided
GBenign
PRX
Single nucleotide variant
(3 prime UTR variant)
Charcot-Marie-Tooth disease type 4F
GUncertain significance
PRX
Single nucleotide variant
(3 prime UTR variant)
Charcot-Marie-Tooth disease type 4F
GUncertain significance
PRX
Single nucleotide variant
(3 prime UTR variant)
Charcot-Marie-Tooth disease type 4F
GLikely benign
PRX
Single nucleotide variant
(3 prime UTR variant)
Charcot-Marie-Tooth disease type 4F
GUncertain significance
PRX, LOC130064454
+2 more
Duplication
Charcot-Marie-Tooth disease type 4
GUncertain significance
PRX
(V1556I +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GLikely benign
PRX
(A1555V +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PRX
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease type 4
GLikely benign
PRX
(A1459V)
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease type 4
+2 more
GUncertain significance
PRX
(A1456S)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+1 more
GUncertain significance
PRX
(A1456P)
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease type 4
+2 more
GUncertain significance
PRX
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease type 4
GLikely benign
PRX
(A1451V)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GUncertain significance
PRX
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GLikely benign
PRX
(P1450L)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+2 more
GUncertain significance
PRX
(P1543L +1 more)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease type 4
GUncertain significance
PRX
(A1447fs)
Deletion
(3 prime UTR variant +1 more)
not provided
+2 more
GUncertain significance
PRX
Single nucleotide variant
(synonymous variant +1 more)
Charcot-Marie-Tooth disease type 4
GLikely benign
PRX
(T1445I)
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease type 4
+1 more
GUncertain significance
PRX
(T1445S)
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease type 4
GUncertain significance
PRX
(T1445A)
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease type 4
+1 more
GUncertain significance
PRX
(E1444Q)
Single nucleotide variant
(3 prime UTR variant +1 more)
Dejerine-Sottas disease
GUncertain significance
PRX
(V1440M)
Single nucleotide variant
(3 prime UTR variant +1 more)
Dejerine-Sottas disease
+2 more
GUncertain significance
PRX
(S1439R)
Single nucleotide variant
(3 prime UTR variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
PRX
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease type 4
+2 more
GConflicting classifications of pathogenicity
PRX
(S1439I)
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease type 4
GUncertain significance
PRX
(P1438A)
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease
GUncertain significance
PRX
(R1436Q)
Single nucleotide variant
(3 prime UTR variant +1 more)
Inborn genetic diseases
+5 more
GUncertain significance
PRX
(R1436G +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PRX
(R1436W)
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease type 4
GUncertain significance
PRX
(V1435A)
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease type 4
GUncertain significance
PRX
(V1435M +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PRX
(R1434Q)
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease type 4
+1 more
GUncertain significance
PRX
(R1529W +1 more)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease type 4
GUncertain significance
PRX
(E1430D)
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease type 4
+1 more
GUncertain significance
PRX
(E1430* +1 more)
Single nucleotide variant
(nonsense +1 more)
Charcot-Marie-Tooth disease type 4
GUncertain significance
PRX
(E1429K)
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease type 4
GUncertain significance
PRX
(Q1428P)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GUncertain significance
PRX
(D1427Y)
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease type 4F
GUncertain significance
PRX
(S1425T)
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease
GUncertain significance
PRX
(G1424R)
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease type 4
GUncertain significance
PRX
(G1424R)
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease type 4
+1 more
GUncertain significance
PRX
(S1423N)
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease type 4
GUncertain significance
PRX
(S1423G +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PRX
(S1423R)
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease type 4
GUncertain significance
PRX
(R1422Q)
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease type 4
+1 more
GUncertain significance
PRX
(S1418N)
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease type 4
GUncertain significance
PRX
Single nucleotide variant
(synonymous variant +1 more)
Charcot-Marie-Tooth disease type 4
GLikely benign
PRX
Duplication
(3 prime UTR variant +1 more)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
PRX
(V1415M +1 more)
Single nucleotide variant
(missense variant +1 more)
Dejerine-Sottas disease
+1 more
GUncertain significance
PRX
(R1414G)
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease type 4
GUncertain significance
PRX
(R1411H)
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease type 4
+1 more
GUncertain significance
PRX
(R1411L)
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease type 4
+1 more
GUncertain significance
PRX
(R1411C)
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease type 4
GUncertain significance
PRX
Single nucleotide variant
(3 prime UTR variant +1 more)
Inborn genetic diseases
+1 more
GLikely benign
PRX
(S1407A)
Single nucleotide variant
(3 prime UTR variant +1 more)
Inborn genetic diseases
+4 more
GUncertain significance
PRX
Insertion
(inframe_indel +2 more)
Charcot-Marie-Tooth disease type 4
GUncertain significance
PRX
(V1403fs)
Duplication
(frameshift variant +1 more)
Charcot-Marie-Tooth disease type 4
GUncertain significance
PRX
(V1403I)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+1 more
GUncertain significance
PRX
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease type 4
+2 more
GLikely benign
PRX
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease type 4
GLikely benign
PRX
(K1400R)
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease
GUncertain significance
PRX
(P1399L)
Single nucleotide variant
(3 prime UTR variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
PRX
(D1396N)
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease
GUncertain significance
PRX
Single nucleotide variant
(synonymous variant +1 more)
Charcot-Marie-Tooth disease type 4
GUncertain significance
PRX
(G1395S +1 more)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease type 4
GUncertain significance
PRX
(E1394K)
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease
+1 more
GUncertain significance
PRX
Single nucleotide variant
(synonymous variant +1 more)
Charcot-Marie-Tooth disease type 4
GLikely benign
PRX
Single nucleotide variant
(synonymous variant +1 more)
Charcot-Marie-Tooth disease type 4
GLikely benign
PRX
(R1391Q)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
PRX
(R1391P)
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease type 4
GUncertain significance
PRX
(R1391W)
Single nucleotide variant
(3 prime UTR variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
PRX
(R1391G)
Single nucleotide variant
(3 prime UTR variant +1 more)
Inborn genetic diseases
+2 more
GUncertain significance
PRX
(S1390C +1 more)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease type 4
GUncertain significance
PRX
(A1389T)
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease type 4
GUncertain significance
PRX
(P1386R +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PRX
(P1386H)
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease type 4
+2 more
GUncertain significance
PRX
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease type 4
+2 more
GLikely benign
PRX
(A1384V)
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease type 4
+2 more
GUncertain significance
PRX
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease
GLikely benign
PRX
(R1380H +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PRX
(R1380C)
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease type 4
+1 more
GUncertain significance
PRX
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease type 4
GLikely benign
PRX
(L1473S +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PRX
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease type 4
GLikely benign
PRX
Microsatellite
(inframe_insertion +1 more)
Charcot-Marie-Tooth disease type 4
GUncertain significance
PRX
(R1377H)
Single nucleotide variant
(3 prime UTR variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
PRX
(R1377C)
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease type 4
+2 more
GUncertain significance
PRX
(R1470L +1 more)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease type 4
GUncertain significance
PRX
(R1375Q)
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease type 4
GUncertain significance
PRX
(R1375W)
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease type 4
GUncertain significance
PRX
Microsatellite
(inframe_indel +2 more)
Charcot-Marie-Tooth disease type 4
GUncertain significance
PRX
(V1374G)
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease type 4
GUncertain significance
PRX
(R1373Q)
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease type 4
+2 more
GUncertain significance
PRX
(S1368fs)
Deletion
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease type 4
GUncertain significance
PRX
(R1373W)
Single nucleotide variant
(3 prime UTR variant +1 more)
Inborn genetic diseases
+2 more
GUncertain significance
PRX
(G1372V)
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease type 4
GUncertain significance
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