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Links from MedGen

Items: 21

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CSF1R
(I263T +1 more)
Single nucleotide variant
(missense variant +1 more)
Leukoencephalopathy, diffuse hereditary, with spheroids 1
GUncertain significance
CSF1R
(A632V +1 more)
Single nucleotide variant
(missense variant +1 more)
Leukoencephalopathy, diffuse hereditary, with spheroids 1
GLikely pathogenic
CSF1R
(Y775C +1 more)
Single nucleotide variant
(missense variant +1 more)
Leukoencephalopathy, diffuse hereditary, with spheroids 1
GLikely pathogenic
CSF1R
(P676L +1 more)
Single nucleotide variant
(missense variant +1 more)
Leukoencephalopathy, diffuse hereditary, with spheroids 1
GPathogenic
CSF1R
(K645E +1 more)
Single nucleotide variant
(missense variant +1 more)
Leukoencephalopathy, diffuse hereditary, with spheroids 1
GLikely pathogenic
CSF1R
Single nucleotide variant
(synonymous variant +1 more)
not provided
+2 more
GBenign/Likely benign
CSF1R
(T506N +1 more)
Single nucleotide variant
(missense variant +1 more)
Leukoencephalopathy, diffuse hereditary, with spheroids 1
+1 more
GConflicting classifications of pathogenicity
CSF1R, LOC111188154
(A219D +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
CSF1R
(Q543H +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
CSF1R
(T467A +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
CSF1R
(R579G +1 more)
Single nucleotide variant
(missense variant +1 more)
Leukoencephalopathy, diffuse hereditary, with spheroids 1
+1 more
GUncertain significance
CSF1R
Single nucleotide variant
(intron variant)
Brain abnormalities, neurodegeneration, and dysosteosclerosis
+2 more
GBenign
CSF1R
(R634C +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GLikely pathogenic
CSF1R
(Q687* +1 more)
Single nucleotide variant
(nonsense +1 more)
Leukoencephalopathy, diffuse hereditary, with spheroids 1
GLikely pathogenic
CSF1R
(W402* +1 more)
Single nucleotide variant
(nonsense +1 more)
Brain abnormalities, neurodegeneration, and dysosteosclerosis
+1 more
GUncertain significance
CSF1R
(G443E +1 more)
Single nucleotide variant
(missense variant +1 more)
Leukoencephalopathy, diffuse hereditary, with spheroids 1
+1 more
GLikely pathogenic
CSF1R
(C759del +1 more)
Deletion
(inframe_deletion +1 more)
Leukoencephalopathy, diffuse hereditary, with spheroids 1
+1 more
GUncertain significance
CSF1R
(G441R +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
CSF1R
Single nucleotide variant
(synonymous variant +2 more)
Brain abnormalities, neurodegeneration, and dysosteosclerosis
+4 more
GBenign
CSF1R
Single nucleotide variant
(synonymous variant +1 more)
Brain abnormalities, neurodegeneration, and dysosteosclerosis
+4 more
GBenign
CSF1R
(R782H +1 more)
Single nucleotide variant
(missense variant +1 more)
Brain abnormalities, neurodegeneration, and dysosteosclerosis
+3 more
GPathogenic/Likely pathogenic
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