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Links from MedGen

Items: 35

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CSF1R
(F701I +1 more)
Single nucleotide variant
(missense variant +1 more)
Brain abnormalities, neurodegeneration, and dysosteosclerosis
GLikely pathogenic
CSF1R
(S702* +1 more)
Single nucleotide variant
(nonsense +1 more)
Brain abnormalities, neurodegeneration, and dysosteosclerosis
GPathogenic
CSF1R
(Y128* +1 more)
Single nucleotide variant
(nonsense +1 more)
Brain abnormalities, neurodegeneration, and dysosteosclerosis
GLikely pathogenic
CSF1R
(S789G +1 more)
Single nucleotide variant
(missense variant +1 more)
Brain abnormalities, neurodegeneration, and dysosteosclerosis
GUncertain significance
CSF1R
(E24fs)
Duplication
(frameshift variant +2 more)
Brain abnormalities, neurodegeneration, and dysosteosclerosis
GLikely pathogenic
CSF1R
(P202S +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Brain abnormalities, neurodegeneration, and dysosteosclerosis
GUncertain significance
CSF1R
(P247L +1 more)
Single nucleotide variant
(missense variant +1 more)
Brain abnormalities, neurodegeneration, and dysosteosclerosis
GUncertain significance
CSF1R
(T37M)
Single nucleotide variant
(missense variant +2 more)
Brain abnormalities, neurodegeneration, and dysosteosclerosis
+1 more
GConflicting classifications of pathogenicity
CSF1R
Single nucleotide variant
(synonymous variant +1 more)
not provided
+2 more
GBenign/Likely benign
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
(G137V)
Single nucleotide variant
(missense variant +2 more)
Hereditary diffuse leukoencephalopathy with spheroids
+1 more
GUncertain significance
CSF1R
Single nucleotide variant
(intron variant)
Brain abnormalities, neurodegeneration, and dysosteosclerosis
+2 more
GBenign
CSF1R
Single nucleotide variant
(intron variant)
Hereditary diffuse leukoencephalopathy with spheroids
+2 more
GBenign
CSF1R
Single nucleotide variant
(intron variant)
Hereditary diffuse leukoencephalopathy with spheroids
+2 more
GBenign
CSF1R
(Y392* +1 more)
Single nucleotide variant
(nonsense +1 more)
Brain abnormalities, neurodegeneration, and dysosteosclerosis
GPathogenic
CSF1R
(W402* +1 more)
Single nucleotide variant
(nonsense +1 more)
Brain abnormalities, neurodegeneration, and dysosteosclerosis
+1 more
GUncertain significance
CSF1R
(W691C +1 more)
Single nucleotide variant
(missense variant +1 more)
Brain abnormalities, neurodegeneration, and dysosteosclerosis
GUncertain significance
CSF1R
(V117M)
Single nucleotide variant
(missense variant +2 more)
Brain abnormalities, neurodegeneration, and dysosteosclerosis
+1 more
GUncertain significance
CSF1R
(V320L +1 more)
Single nucleotide variant
(missense variant +1 more)
Brain abnormalities, neurodegeneration, and dysosteosclerosis
+1 more
GUncertain significance
CSF1R
(H643Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CSF1R
Single nucleotide variant
(splice acceptor variant)
Brain abnormalities, neurodegeneration, and dysosteosclerosis
GPathogenic
CSF1R
Deletion
(intron variant)
not provided
GPathogenic
CSF1R
Single nucleotide variant
(intron variant)
not specified
GUncertain significance
CSF1R
(P132L)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
CSF1R
(Q481* +1 more)
Single nucleotide variant
(nonsense +1 more)
Inborn genetic diseases
+2 more
GPathogenic
CSF1R
(K627del +1 more)
Deletion
(inframe_deletion +1 more)
not provided
GUncertain significance
CSF1R
Single nucleotide variant
(synonymous variant +2 more)
not provided
+2 more
GBenign
CSF1R
Single nucleotide variant
(synonymous variant +2 more)
Brain abnormalities, neurodegeneration, and dysosteosclerosis
+4 more
GBenign
CSF1R, LOC111188154
Single nucleotide variant
(synonymous variant +1 more)
Hereditary diffuse leukoencephalopathy with spheroids
+2 more
GBenign
CSF1R
Single nucleotide variant
(synonymous variant +1 more)
Brain abnormalities, neurodegeneration, and dysosteosclerosis
+4 more
GBenign
CSF1R
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+2 more
GBenign
CSF1R
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+2 more
GBenign
CSF1R
(V784M +1 more)
Single nucleotide variant
(missense variant +1 more)
Brain abnormalities, neurodegeneration, and dysosteosclerosis
GLikely pathogenic
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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