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Links from MedGen

Items: 42

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TYROBP
(V27M +1 more)
Single nucleotide variant
(missense variant +1 more)
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1
GUncertain significance
TYROBP
(V47A +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
TYROBP
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
TYROBP
Single nucleotide variant
(intron variant)
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1
GUncertain significance
TYROBP
Single nucleotide variant
(3 prime UTR variant +1 more)
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1
GUncertain significance
TYROBP
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
TYROBP
Single nucleotide variant
(synonymous variant +1 more)
TYROBP-related disorder
+2 more
GConflicting classifications of pathogenicity
TREM2
(P172S)
Single nucleotide variant
(missense variant +1 more)
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1
+2 more
GConflicting classifications of pathogenicity
TREM2
(R62H)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign/Likely benign
TREM2
(T96K)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign/Likely benign
TREM2
(L211P)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GBenign/Likely benign
TREM2
(T204A)
Single nucleotide variant
(missense variant +1 more)
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1
GUncertain significance
TYROBP
Single nucleotide variant
(5 prime UTR variant +1 more)
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1
GUncertain significance
TYROBP
Single nucleotide variant
(5 prime UTR variant +1 more)
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1
GUncertain significance
TYROBP
(R23H)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GBenign/Likely benign
TYROBP
Single nucleotide variant
(intron variant)
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1
+1 more
GBenign
TYROBP
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GBenign/Likely benign
TYROBP
Single nucleotide variant
(3 prime UTR variant +1 more)
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1
GUncertain significance
TYROBP
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+1 more
GBenign
TYROBP
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+1 more
GBenign/Likely benign
TYROBP
Single nucleotide variant
(3 prime UTR variant +1 more)
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1
GUncertain significance
TYROBP
Single nucleotide variant
(3 prime UTR variant +1 more)
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1
GUncertain significance
TYROBP
Single nucleotide variant
(3 prime UTR variant +1 more)
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1
+1 more
GBenign/Likely benign
TREM2
Single nucleotide variant
(synonymous variant)
TREM2-related condition
+3 more
GConflicting classifications of pathogenicity
TYROBP
(V55L +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+3 more
GBenign
TYROBP, LOC130064269
+2 more
Deletion
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1
Gnot provided
TREM2
(T66M)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
TREM2
(Y38C)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
TREM2
Single nucleotide variant
(splice donor variant)
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1
+1 more
GPathogenic/Likely pathogenic
TREM2
(E14*)
Single nucleotide variant
(nonsense)
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2
GPathogenic
TREM2
Deletion
(intron variant)
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1
GPathogenic/Likely pathogenic
TREM2
(A105fs)
Deletion
(frameshift variant)
not provided
GPathogenic
TREM2
(G90fs)
Deletion
(frameshift variant)
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1
GLikely pathogenic
TYROBP
(E76* +3 more)
Single nucleotide variant
(nonsense +1 more)
not provided
GLikely pathogenic
TYROBP
(G38R +1 more)
Single nucleotide variant
(missense variant +1 more)
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1
GLikely pathogenic
TYROBP
(M37fs +1 more)
Deletion
(frameshift variant +1 more)
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1
GPathogenic/Likely pathogenic
TYROBP
(S28N +1 more)
Single nucleotide variant
(missense variant +1 more)
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1
GLikely pathogenic
TYROBP
(M1T)
Single nucleotide variant
(missense variant +2 more)
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1
GPathogenic
LOC130064269, LOC130064270
+2 more
Deletion
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1
GPathogenic
TREM2
(Q33*)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic
TREM2
(V126G)
Single nucleotide variant
(missense variant)
TREM2-related condition
+1 more
GPathogenic/Likely pathogenic
TREM2
(W78*)
Single nucleotide variant
(nonsense)
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2
GLikely pathogenic
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