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Links from MedGen

Items: 1 to 100 of 2303

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KIF1A
(N211D)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 30
+3 more
GPathogenic
KIF1A
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 30
+2 more
GLikely benign
KIF1A
(Y1138F +8 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 30
+2 more
GUncertain significance
KIF1A
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 30
+2 more
GLikely benign
KIF1A
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 30
+2 more
GLikely benign
KIF1A
(E267G)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 30
+2 more
GUncertain significance
KIF1A
(Y1641C +14 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 30
+2 more
GUncertain significance
KIF1A, LOC126806583
(V1178M +8 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 30
+2 more
GUncertain significance
KIF1A
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 30
+2 more
GLikely benign
KIF1A
(I964V +7 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 30
+2 more
GUncertain significance
KIF1A
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 30
+2 more
GLikely benign
KIF1A
(S1426R +14 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 30
+2 more
GUncertain significance
KIF1A
(A1230S +9 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 30
+2 more
GUncertain significance
KIF1A
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 30
+2 more
GLikely benign
KIF1A
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 30
+2 more
GLikely benign
KIF1A
(S452T +3 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 30
+2 more
GUncertain significance
KIF1A
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 30
+2 more
GLikely benign
KIF1A
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 30
+2 more
GLikely benign
KIF1A
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 30
+2 more
GUncertain significance
KIF1A
(A1295V +14 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 30
+2 more
GUncertain significance
KIF1A
(S1016P +7 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 30
+2 more
GUncertain significance
KIF1A
(A219D)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 30
+2 more
GUncertain significance
KIF1A
(M81T)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 30
+2 more
GUncertain significance
KIF1A
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 30
+2 more
GLikely benign
KIF1A
(N616S +3 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 30
+2 more
GUncertain significance
KIF1A
(S1699P +15 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 30
+2 more
GUncertain significance
KIF1A
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 30
+2 more
GLikely benign
KIF1A
(K654E +3 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 30
+2 more
GUncertain significance
KIF1A
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 30
+2 more
GLikely benign
KIF1A
(G955D +7 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 30
+2 more
GUncertain significance
KIF1A
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 30
+2 more
GLikely benign
KIF1A
(L372V)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 30
+2 more
GPathogenic
KIF1A
(T1266N +14 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 30
+2 more
GUncertain significance
KIF1A
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 30
+2 more
GLikely benign
KIF1A
(D1050N +7 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 30
+2 more
GUncertain significance
KIF1A
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 30
+2 more
GLikely benign
KIF1A
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 30
+2 more
GLikely benign
KIF1A
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 30
+2 more
GUncertain significance
KIF1A
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 30
+2 more
GLikely benign
KIF1A
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 30
+2 more
GLikely benign
KIF1A
Deletion
(intron variant)
Hereditary spastic paraplegia 30
+2 more
GBenign
KIF1A
(Q1341* +14 more)
Single nucleotide variant
(nonsense)
Hereditary spastic paraplegia 30
+2 more
GPathogenic
KIF1A
(V1572A +14 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 30
+2 more
GLikely benign
KIF1A, LOC126806583
(G1199C +9 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 30
+2 more
GUncertain significance
KIF1A
(A1508G +14 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 30
+2 more
GLikely benign
KIF1A
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 30
+2 more
GLikely benign
KIF1A
(D509N +3 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 30
+2 more
GUncertain significance
KIF1A
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 30
+2 more
GLikely benign
KIF1A
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 30
+2 more
GLikely benign
KIF1A
(I443T +3 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 30
+2 more
GUncertain significance
KIF1A
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 30
+2 more
GLikely benign
KIF1A
(V986L +7 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 30
+2 more
GUncertain significance
KIF1A
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 30
+2 more
GUncertain significance
KIF1A
(N1639S +15 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 30
+2 more
GUncertain significance
KIF1A
Single nucleotide variant
(splice donor variant)
Hereditary spastic paraplegia 30
+2 more
GPathogenic
KIF1A
(S1557T +14 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 30
+2 more
GUncertain significance
KIF1A
(A1051S +8 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 30
+2 more
GUncertain significance
KIF1A
(A1632S +14 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 30
+2 more
GUncertain significance
KIF1A
(G1157S +8 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 30
+2 more
GUncertain significance
KIF1A
(L432P +3 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 30
+2 more
GUncertain significance
KIF1A
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 30
+2 more
GLikely benign
KIF1A
(A1007L +8 more)
Indel
(missense variant)
Neuropathy, hereditary sensory, type 2C
+2 more
GUncertain significance
KIF1A
(S921F +7 more)
Single nucleotide variant
(missense variant)
Neuropathy, hereditary sensory, type 2C
+2 more
GUncertain significance
KIF1A
(D528G +3 more)
Single nucleotide variant
(missense variant)
Neuropathy, hereditary sensory, type 2C
+2 more
GUncertain significance
KIF1A
Single nucleotide variant
(synonymous variant)
Neuropathy, hereditary sensory, type 2C
+2 more
GLikely benign
KIF1A
Single nucleotide variant
(synonymous variant)
Neuropathy, hereditary sensory, type 2C
+2 more
GUncertain significance
KIF1A
(I459V +3 more)
Single nucleotide variant
(missense variant)
Neuropathy, hereditary sensory, type 2C
+2 more
GUncertain significance
KIF1A
Single nucleotide variant
(synonymous variant)
Neuropathy, hereditary sensory, type 2C
+2 more
GLikely benign
KIF1A
(H1330Q +14 more)
Single nucleotide variant
(missense variant)
Neuropathy, hereditary sensory, type 2C
+2 more
GUncertain significance
KIF1A
Single nucleotide variant
(intron variant)
Neuropathy, hereditary sensory, type 2C
+2 more
GLikely benign
KIF1A
Single nucleotide variant
(intron variant)
Neuropathy, hereditary sensory, type 2C
+2 more
GLikely benign
KIF1A
(Y658H +3 more)
Single nucleotide variant
(missense variant)
Neuropathy, hereditary sensory, type 2C
+2 more
GUncertain significance
KIF1A
(D1752Y +15 more)
Single nucleotide variant
(missense variant)
Neuropathy, hereditary sensory, type 2C
+2 more
GUncertain significance
KIF1A
Single nucleotide variant
(intron variant)
Neuropathy, hereditary sensory, type 2C
+2 more
GUncertain significance
KIF1A
(S1302P +14 more)
Single nucleotide variant
(missense variant)
Neuropathy, hereditary sensory, type 2C
+2 more
GUncertain significance
KIF1A
Single nucleotide variant
(synonymous variant)
Neuropathy, hereditary sensory, type 2C
+2 more
GUncertain significance
KIF1A
Single nucleotide variant
(synonymous variant)
Neuropathy, hereditary sensory, type 2C
+2 more
GLikely benign
KIF1A
Single nucleotide variant
(intron variant)
Neuropathy, hereditary sensory, type 2C
+2 more
GLikely benign
KIF1A
(K490Q +3 more)
Single nucleotide variant
(missense variant)
Neuropathy, hereditary sensory, type 2C
+2 more
GUncertain significance
KIF1A
(R1354L +14 more)
Single nucleotide variant
(missense variant)
Neuropathy, hereditary sensory, type 2C
+2 more
GUncertain significance
KIF1A
(F1596L +14 more)
Single nucleotide variant
(missense variant)
Neuropathy, hereditary sensory, type 2C
+2 more
GUncertain significance
KIF1A
(D1500E +14 more)
Single nucleotide variant
(missense variant)
Neuropathy, hereditary sensory, type 2C
+2 more
GUncertain significance
KIF1A
Single nucleotide variant
(intron variant)
Neuropathy, hereditary sensory, type 2C
+2 more
GLikely benign
KIF1A
Single nucleotide variant
(intron variant)
Neuropathy, hereditary sensory, type 2C
+2 more
GLikely benign
KIF1A
(Q1577* +14 more)
Single nucleotide variant
(nonsense)
Neuropathy, hereditary sensory, type 2C
+2 more
GPathogenic
KIF1A
(R807L +3 more)
Single nucleotide variant
(missense variant)
Neuropathy, hereditary sensory, type 2C
+2 more
GUncertain significance
KIF1A, LOC126806583
(E1221K +8 more)
Single nucleotide variant
(missense variant)
Neuropathy, hereditary sensory, type 2C
+2 more
GUncertain significance
KIF1A
Single nucleotide variant
(intron variant)
Neuropathy, hereditary sensory, type 2C
+2 more
GLikely benign
KIF1A
(K1132E +8 more)
Single nucleotide variant
(missense variant)
Neuropathy, hereditary sensory, type 2C
+2 more
GUncertain significance
KIF1A
(P781S +3 more)
Single nucleotide variant
(missense variant)
Neuropathy, hereditary sensory, type 2C
+2 more
GUncertain significance
KIF1A
Single nucleotide variant
(synonymous variant)
Neuropathy, hereditary sensory, type 2C
+2 more
GLikely benign
KIF1A
Single nucleotide variant
(intron variant)
Neuropathy, hereditary sensory, type 2C
+2 more
GLikely benign
KIF1A
Deletion
(stop lost)
Neuropathy, hereditary sensory, type 2C
+2 more
GUncertain significance
KIF1A
(L275Q)
Single nucleotide variant
(missense variant)
Neuropathy, hereditary sensory, type 2C
+2 more
GLikely pathogenic
KIF1A
Single nucleotide variant
(synonymous variant)
Neuropathy, hereditary sensory, type 2C
+2 more
GLikely benign
KIF1A
(L1594F +14 more)
Single nucleotide variant
(missense variant)
Neuropathy, hereditary sensory, type 2C
+2 more
GUncertain significance
KIF1A
(A1018G +7 more)
Single nucleotide variant
(missense variant)
Neuropathy, hereditary sensory, type 2C
+2 more
GUncertain significance
KIF1A
(P1071A +8 more)
Single nucleotide variant
(missense variant)
Neuropathy, hereditary sensory, type 2C
+2 more
GLikely benign
KIF1A
Single nucleotide variant
(synonymous variant)
Neuropathy, hereditary sensory, type 2C
+2 more
GBenign
KIF1A
Single nucleotide variant
(synonymous variant)
Neuropathy, hereditary sensory, type 2C
+2 more
GLikely benign
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