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Links from MedGen

Items: 47

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
C19orf12
(F25fs +1 more)
Deletion
(frameshift variant)
Neurodegeneration with brain iron accumulation
+1 more
GPathogenic/Likely pathogenic
ATP13A2
(Q529* +1 more)
Single nucleotide variant
(nonsense)
Neurodegeneration with brain iron accumulation
GLikely pathogenic
PLA2G6
Single nucleotide variant
(splice acceptor variant)
Infantile neuroaxonal dystrophy
+1 more
GLikely pathogenic
DCAF17
(K167fs)
Insertion
(frameshift variant +1 more)
Neurodegeneration with brain iron accumulation
GLikely pathogenic
PLA2G6
(E519K +4 more)
Single nucleotide variant
(missense variant)
Neurodegeneration with brain iron accumulation
+3 more
GConflicting classifications of pathogenicity
ATP13A2
(W253* +1 more)
Single nucleotide variant
(nonsense)
Neurodegeneration with brain iron accumulation
+2 more
GPathogenic
ATP13A2
(G1089fs +1 more)
Deletion
(frameshift variant +1 more)
Neurodegeneration with brain iron accumulation
GLikely pathogenic
COASY
(C357fs +1 more)
Deletion
(frameshift variant)
Neurodegeneration with brain iron accumulation
GLikely pathogenic
PLA2G6
(H206fs +2 more)
Deletion
(frameshift variant +1 more)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
CP, HPS3
Deletion
Neurodegeneration with brain iron accumulation
GLikely pathogenic
PLA2G6
(P223L +1 more)
Single nucleotide variant
(missense variant +1 more)
PLA2G6-associated neurodegeneration
+4 more
GConflicting classifications of pathogenicity
COASY
(E164fs +1 more)
Deletion
(frameshift variant)
Neurodegeneration with brain iron accumulation
GLikely pathogenic
DCAF17
(R429fs +1 more)
Microsatellite
(frameshift variant +1 more)
Neurodegeneration with brain iron accumulation
+1 more
GPathogenic/Likely pathogenic
PLA2G6
(A49V +1 more)
Single nucleotide variant
(missense variant +1 more)
Neurodegeneration with brain iron accumulation
+2 more
GConflicting classifications of pathogenicity
PLA2G6
(R368W +4 more)
Single nucleotide variant
(missense variant)
Neurodegeneration with brain iron accumulation
+3 more
GPathogenic/Likely pathogenic
PLA2G6
(Q531* +4 more)
Single nucleotide variant
(nonsense)
Neurodegeneration with brain iron accumulation
+1 more
GLikely pathogenic
PLA2G6
Single nucleotide variant
(splice donor variant)
Neurodegeneration with brain iron accumulation
+1 more
GLikely pathogenic
FA2H
(R269H)
Single nucleotide variant
(missense variant)
Spastic paraplegia
+3 more
GPathogenic/Likely pathogenic
COASY
Single nucleotide variant
(splice donor variant)
Neurodegeneration with brain iron accumulation
+1 more
GConflicting classifications of pathogenicity
C19orf12
(G54E +1 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary spastic paraplegia 43
+2 more
GPathogenic/Likely pathogenic
COASY
(S517fs +1 more)
Microsatellite
(frameshift variant)
not provided
+1 more
GPathogenic/Likely pathogenic
PLA2G6
(G347R +2 more)
Single nucleotide variant
(missense variant)
Neurodegeneration with brain iron accumulation
+1 more
GPathogenic
ATP13A2
Single nucleotide variant
(intron variant +1 more)
not provided
+4 more
GPathogenic/Likely pathogenic
REPS1
(A113E)
Single nucleotide variant
(missense variant)
Neurodegeneration with brain iron accumulation
GPathogenic
CRAT
(R321H +3 more)
Single nucleotide variant
(missense variant)
Neurodegeneration with brain iron accumulation
+2 more
GConflicting classifications of pathogenicity
ATP13A2
(Y1020fs +2 more)
Deletion
(frameshift variant)
not provided
+4 more
GPathogenic/Likely pathogenic
FA2H, LOC130059394
(P44Q)
Single nucleotide variant
(missense variant)
Spastic paraplegia
+1 more
GPathogenic/Likely pathogenic
CP
(L919P)
Single nucleotide variant
(missense variant +1 more)
Neurodegeneration with brain iron accumulation
+1 more
GPathogenic/Likely pathogenic
COASY
(I469* +1 more)
Microsatellite
(nonsense)
not specified
+5 more
GConflicting classifications of pathogenicity
FA2H
(P148L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GPathogenic/Likely pathogenic
WDR45
Single nucleotide variant
(splice donor variant)
not provided
+1 more
GPathogenic
PLA2G6
(R741W +4 more)
Single nucleotide variant
(missense variant)
PLA2G6-associated neurodegeneration
+5 more
GPathogenic/Likely pathogenic
PLA2G6
(S405fs +4 more)
Deletion
(frameshift variant)
Neurodegeneration with brain iron accumulation
GLikely pathogenic
C19orf12
(G42R +1 more)
Single nucleotide variant
(missense variant +2 more)
Neurodegeneration with brain iron accumulation
+3 more
GConflicting classifications of pathogenicity
PLA2G6
Deletion
(inframe_deletion +1 more)
Neurodegeneration with brain iron accumulation
+3 more
GConflicting classifications of pathogenicity
PLA2G6
(R600Q +4 more)
Single nucleotide variant
(missense variant)
Infantile osteopetrosis with neuroaxonal dysplasia
+9 more
GPathogenic/Likely pathogenic
PLA2G6
(K545R +4 more)
Single nucleotide variant
(missense variant)
Neurodegeneration with brain iron accumulation
+3 more
GPathogenic/Likely pathogenic
COASY
(R499C +1 more)
Single nucleotide variant
(missense variant)
Neurodegeneration with brain iron accumulation 6
+2 more
GPathogenic
C19orf12
Deletion
(splice acceptor variant)
Neurodegeneration with brain iron accumulation 4
+2 more
GPathogenic/Likely pathogenic
CP
(P689fs)
Deletion
(frameshift variant)
CP-related disorder
+2 more
GPathogenic/Likely pathogenic
C19orf12
(G69R +1 more)
Single nucleotide variant
(missense variant +1 more)
Neurodegeneration with brain iron accumulation 4
+8 more
GPathogenic/Likely pathogenic
C19orf12
(G58fs +1 more)
Deletion
(frameshift variant +1 more)
Hereditary spastic paraplegia 43
+3 more
GPathogenic/Likely pathogenic
FA2H
(R154C)
Single nucleotide variant
(missense variant)
Spastic paraplegia
+3 more
GConflicting classifications of pathogenicity
PLA2G6
(R741Q +4 more)
Single nucleotide variant
(missense variant)
Infantile neuroaxonal dystrophy
+4 more
GPathogenic/Likely pathogenic
PLA2G6
(R632W +4 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GPathogenic/Likely pathogenic
PLA2G6
(V691del +4 more)
Deletion
(inframe_deletion)
not provided
+3 more
GPathogenic
PLA2G6
(Y790* +4 more)
Single nucleotide variant
(nonsense)
PLA2G6-related disorder
+11 more
GConflicting classifications of pathogenicity
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