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Links from MedGen

Items: 1 to 100 of 441

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ZFYVE26
Single nucleotide variant
(splice donor variant)
Hereditary spastic paraplegia 15
GLikely pathogenic
ZFYVE26
Single nucleotide variant
(splice acceptor variant)
Hereditary spastic paraplegia 15
GLikely pathogenic
ZFYVE26
(E2449D)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 15
GUncertain significance
ZFYVE26
(Y643fs)
Deletion
(frameshift variant)
Hereditary spastic paraplegia 15
GLikely pathogenic
ZFYVE26
(T2141M)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 15
+1 more
GUncertain significance
ZFYVE26
(L448F)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
ZFYVE26
(R2308C)
Single nucleotide variant
(missense variant)
Spastic paraplegia
+1 more
GUncertain significance
ZFYVE26
(R1354Q)
Single nucleotide variant
(missense variant)
Spastic paraplegia
+1 more
GUncertain significance
ZFYVE26
(V1450F)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 15
+1 more
GUncertain significance
ZFYVE26
(G355D)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 15
+2 more
GUncertain significance
ZFYVE26
(R780Q)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 15
+3 more
GUncertain significance
ZFYVE26
(E173fs)
Deletion
(frameshift variant)
Hereditary spastic paraplegia 15
GPathogenic
ZFYVE26
(Y1654*)
Single nucleotide variant
(nonsense)
Hereditary spastic paraplegia 15
GLikely pathogenic
ZFYVE26
(R2039fs)
Deletion
(frameshift variant)
Hereditary spastic paraplegia 15
GLikely pathogenic
ZFYVE26
(F2208fs)
Deletion
(frameshift variant)
Hereditary spastic paraplegia 15
GLikely pathogenic
ZFYVE26
(L1661fs)
Deletion
(frameshift variant)
Hereditary spastic paraplegia 15
GLikely pathogenic
ZFYVE26
(L1912fs)
Duplication
(frameshift variant)
Hereditary spastic paraplegia 15
GLikely pathogenic
ZFYVE26
(Q13fs)
Deletion
(frameshift variant)
Hereditary spastic paraplegia 15
GLikely pathogenic
ZFYVE26
(K1309fs)
Deletion
(frameshift variant)
Hereditary spastic paraplegia 15
GLikely pathogenic
ZFYVE26
(H1260fs)
Indel
(frameshift variant)
Hereditary spastic paraplegia 15
GLikely pathogenic
ZFYVE26
(W79*)
Single nucleotide variant
(nonsense)
Hereditary spastic paraplegia 15
GLikely pathogenic
ZFYVE26
(C1534fs)
Indel
(frameshift variant)
Hereditary spastic paraplegia 15
GLikely pathogenic
ZFYVE26
(Q1132*)
Single nucleotide variant
(nonsense)
Hereditary spastic paraplegia 15
GLikely pathogenic
ZFYVE26
(K1727*)
Single nucleotide variant
(nonsense)
Hereditary spastic paraplegia 15
GLikely pathogenic
ZFYVE26
(K85*)
Single nucleotide variant
(nonsense)
Hereditary spastic paraplegia 15
GLikely pathogenic
ZFYVE26
(Y873fs)
Deletion
(frameshift variant)
Hereditary spastic paraplegia 15
GLikely pathogenic
ZFYVE26
(R1428fs)
Indel
(frameshift variant)
Hereditary spastic paraplegia 15
GLikely pathogenic
ZFYVE26
(K669fs)
Deletion
(frameshift variant)
Hereditary spastic paraplegia 15
GLikely pathogenic
ZFYVE26
(G1055fs)
Insertion
(frameshift variant)
Hereditary spastic paraplegia 15
GLikely pathogenic
ZFYVE26
(Y873*)
Single nucleotide variant
(nonsense)
Hereditary spastic paraplegia 15
GLikely pathogenic
ZFYVE26
(Y643fs)
Deletion
(frameshift variant)
Hereditary spastic paraplegia 15
GLikely pathogenic
ZFYVE26
(T341fs)
Deletion
(frameshift variant)
Hereditary spastic paraplegia 15
GLikely pathogenic
ZFYVE26
(P426fs)
Indel
(frameshift variant)
Hereditary spastic paraplegia 15
GLikely pathogenic
ZFYVE26
(E125fs)
Microsatellite
(frameshift variant)
Hereditary spastic paraplegia 15
GLikely pathogenic
ZFYVE26
(A2081fs)
Deletion
(frameshift variant)
Hereditary spastic paraplegia 15
GLikely pathogenic
ZFYVE26
(C2002fs)
Duplication
(frameshift variant)
Hereditary spastic paraplegia 15
GLikely pathogenic
ZFYVE26
(R49fs)
Duplication
(frameshift variant)
Hereditary spastic paraplegia 15
GLikely pathogenic
ZFYVE26
(K2300fs)
Indel
(frameshift variant)
Hereditary spastic paraplegia 15
GLikely pathogenic
ZFYVE26
(E606*)
Single nucleotide variant
(nonsense)
Hereditary spastic paraplegia 15
GLikely pathogenic
ZFYVE26
(W1374*)
Single nucleotide variant
(nonsense)
Hereditary spastic paraplegia 15
GLikely pathogenic
ZFYVE26
(A1212fs)
Deletion
(frameshift variant)
Hereditary spastic paraplegia 15
GLikely pathogenic
ZFYVE26
(N1137fs)
Deletion
(frameshift variant)
Hereditary spastic paraplegia 15
GLikely pathogenic
ZFYVE26
(P352fs)
Insertion
(frameshift variant)
Hereditary spastic paraplegia 15
GLikely pathogenic
ZFYVE26
(F351fs)
Insertion
(frameshift variant)
Hereditary spastic paraplegia 15
GLikely pathogenic
ZFYVE26
(L2238*)
Single nucleotide variant
(nonsense)
Hereditary spastic paraplegia 15
GLikely pathogenic
ZFYVE26
(L2231*)
Single nucleotide variant
(nonsense)
Hereditary spastic paraplegia 15
GLikely pathogenic
ZFYVE26
(Y124*)
Single nucleotide variant
(nonsense)
Hereditary spastic paraplegia 15
GLikely pathogenic
ZFYVE26
(L2344*)
Single nucleotide variant
(nonsense)
Hereditary spastic paraplegia 15
GLikely pathogenic
ZFYVE26
(R1784fs)
Deletion
(frameshift variant)
Hereditary spastic paraplegia 15
GLikely pathogenic
ZFYVE26
(N453fs)
Deletion
(frameshift variant)
Hereditary spastic paraplegia 15
GLikely pathogenic
ZFYVE26
(F665fs)
Indel
(frameshift variant)
Hereditary spastic paraplegia 15
GLikely pathogenic
ZFYVE26
(S2349fs)
Deletion
(frameshift variant)
Hereditary spastic paraplegia 15
GLikely pathogenic
ZFYVE26
(S293*)
Single nucleotide variant
(nonsense)
Hereditary spastic paraplegia 15
GLikely pathogenic
ZFYVE26
(P1298fs)
Deletion
(frameshift variant)
Hereditary spastic paraplegia 15
GLikely pathogenic
ZFYVE26
(H661fs)
Deletion
(frameshift variant)
Hereditary spastic paraplegia 15
GLikely pathogenic
ZFYVE26
(C1864fs)
Indel
(frameshift variant)
Hereditary spastic paraplegia 15
GLikely pathogenic
ZFYVE26
(S1040fs)
Deletion
(frameshift variant)
Hereditary spastic paraplegia 15
GLikely pathogenic
ZFYVE26
(D1595fs)
Deletion
(frameshift variant)
Hereditary spastic paraplegia 15
GLikely pathogenic
ZFYVE26
(L1477fs)
Duplication
(frameshift variant)
Hereditary spastic paraplegia 15
GLikely pathogenic
ZFYVE26
(P207fs)
Deletion
(frameshift variant)
Hereditary spastic paraplegia 15
GLikely pathogenic
ZFYVE26
(E1854fs)
Deletion
(frameshift variant)
Hereditary spastic paraplegia 15
GLikely pathogenic
ZFYVE26
(Q2424*)
Single nucleotide variant
(nonsense)
Spastic paraplegia
+1 more
GPathogenic/Likely pathogenic
ZFYVE26
(G1139fs)
Deletion
(frameshift variant)
Hereditary spastic paraplegia 15
GLikely pathogenic
ZFYVE26
(E627fs)
Deletion
(frameshift variant)
Hereditary spastic paraplegia 15
GLikely pathogenic
ZFYVE26
(S1897*)
Single nucleotide variant
(nonsense)
Spastic paraplegia
+1 more
GPathogenic/Likely pathogenic
ZFYVE26
(E2111*)
Single nucleotide variant
(nonsense)
Hereditary spastic paraplegia 15
GLikely pathogenic
ZFYVE26
(L1421*)
Single nucleotide variant
(nonsense)
Hereditary spastic paraplegia 15
GLikely pathogenic
ZFYVE26
(C1856*)
Single nucleotide variant
(nonsense)
Hereditary spastic paraplegia 15
GLikely pathogenic
ZFYVE26
(P1531fs)
Deletion
(frameshift variant)
Hereditary spastic paraplegia 15
GLikely pathogenic
ZFYVE26
(G717*)
Single nucleotide variant
(nonsense)
Hereditary spastic paraplegia 15
GLikely pathogenic
ZFYVE26
(G677fs)
Deletion
(frameshift variant)
Hereditary spastic paraplegia 15
GLikely pathogenic
ZFYVE26
(D526fs)
Insertion
(frameshift variant)
Hereditary spastic paraplegia 15
GLikely pathogenic
ZFYVE26
(R162fs)
Deletion
(frameshift variant)
Hereditary spastic paraplegia 15
GLikely pathogenic
ZFYVE26
(W948fs)
Insertion
(frameshift variant)
Hereditary spastic paraplegia 15
GLikely pathogenic
ZFYVE26
(Y1436*)
Single nucleotide variant
(nonsense)
Hereditary spastic paraplegia 15
GLikely pathogenic
ZFYVE26
(R1923fs)
Insertion
(frameshift variant)
Hereditary spastic paraplegia 15
GLikely pathogenic
ZFYVE26
Insertion
(nonsense +1 more)
Hereditary spastic paraplegia 15
GLikely pathogenic
ZFYVE26
(R2133fs)
Deletion
(frameshift variant)
Hereditary spastic paraplegia 15
GLikely pathogenic
ZFYVE26
(A1124fs)
Indel
(frameshift variant)
Hereditary spastic paraplegia 15
GLikely pathogenic
ZFYVE26
(L2220*)
Single nucleotide variant
(nonsense)
Hereditary spastic paraplegia 15
GLikely pathogenic
ZFYVE26
(C247*)
Single nucleotide variant
(nonsense)
Hereditary spastic paraplegia 15
GLikely pathogenic
ZFYVE26
(D1470fs)
Insertion
(frameshift variant)
Hereditary spastic paraplegia 15
GLikely pathogenic
ZFYVE26
(Q1085fs)
Indel
(frameshift variant)
Hereditary spastic paraplegia 15
GLikely pathogenic
ZFYVE26
(S1229fs)
Deletion
(frameshift variant)
Hereditary spastic paraplegia 15
GLikely pathogenic
ZFYVE26
(K1508*)
Single nucleotide variant
(nonsense)
Hereditary spastic paraplegia 15
GLikely pathogenic
ZFYVE26
(D1448fs)
Indel
(frameshift variant)
Hereditary spastic paraplegia 15
GLikely pathogenic
ZFYVE26
(P72fs)
Deletion
(frameshift variant)
Hereditary spastic paraplegia 15
GLikely pathogenic
ZFYVE26
(Q2264*)
Single nucleotide variant
(nonsense)
Hereditary spastic paraplegia 15
GLikely pathogenic
ZFYVE26
(C1320*)
Single nucleotide variant
(nonsense)
Hereditary spastic paraplegia 15
GLikely pathogenic
ZFYVE26
(T1105fs)
Indel
(frameshift variant)
Hereditary spastic paraplegia 15
GLikely pathogenic
ZFYVE26
(Q520fs)
Indel
(frameshift variant)
Hereditary spastic paraplegia 15
GLikely pathogenic
ZFYVE26
(Q882*)
Single nucleotide variant
(nonsense)
Hereditary spastic paraplegia 15
GLikely pathogenic
ZFYVE26
(A2295fs)
Deletion
(frameshift variant)
Hereditary spastic paraplegia 15
GLikely pathogenic
ZFYVE26
(K1514*)
Single nucleotide variant
(nonsense)
Hereditary spastic paraplegia 15
GLikely pathogenic
ZFYVE26
(Q1747*)
Single nucleotide variant
(nonsense)
Hereditary spastic paraplegia 15
GLikely pathogenic
ZFYVE26
(E945*)
Single nucleotide variant
(nonsense)
Hereditary spastic paraplegia 15
GLikely pathogenic
ZFYVE26
(S443*)
Single nucleotide variant
(nonsense)
Hereditary spastic paraplegia 15
GLikely pathogenic
ZFYVE26
(E2201fs)
Indel
(frameshift variant)
Hereditary spastic paraplegia 15
GLikely pathogenic
ZFYVE26
(V1013fs)
Indel
(frameshift variant)
Hereditary spastic paraplegia 15
GLikely pathogenic
ZFYVE26
(N315fs)
Deletion
(frameshift variant)
Hereditary spastic paraplegia 15
GLikely pathogenic
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