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Items: 1 to 100 of 254

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MAPT, MAPT-AS1
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
MAPT
(A2S)
Single nucleotide variant
(missense variant +1 more)
Frontotemporal dementia
GUncertain significance
MAPT
(P4T)
Single nucleotide variant
(missense variant +1 more)
Frontotemporal dementia
+4 more
GUncertain significance
MAPT
(R5C)
Single nucleotide variant
(missense variant +1 more)
Frontotemporal dementia
+1 more
GConflicting classifications of pathogenicity
MAPT
(R5H)
Single nucleotide variant
(missense variant +1 more)
Frontotemporal dementia
+2 more
GConflicting classifications of pathogenicity
MAPT
Single nucleotide variant
(synonymous variant +1 more)
Frontotemporal dementia
GLikely benign
MAPT
(E9K)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
MAPT
(M11L)
Single nucleotide variant
(missense variant +1 more)
Frontotemporal dementia
GUncertain significance
MAPT
Single nucleotide variant
(synonymous variant +1 more)
Frontotemporal dementia
GLikely benign
MAPT
Single nucleotide variant
(synonymous variant +1 more)
Frontotemporal dementia
GLikely benign
MAPT
Single nucleotide variant
(synonymous variant +1 more)
Frontotemporal dementia
GLikely benign
MAPT
(G16V)
Single nucleotide variant
(missense variant +1 more)
Frontotemporal dementia
+3 more
GUncertain significance
MAPT
(T17M)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GBenign/Likely benign
MAPT
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GLikely benign
MAPT
Single nucleotide variant
(synonymous variant +1 more)
Frontotemporal dementia
GLikely benign
MAPT
(L20F)
Single nucleotide variant
(missense variant +1 more)
Frontotemporal dementia
GUncertain significance
MAPT
(G21V)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
MAPT
(G27E)
Single nucleotide variant
(missense variant +1 more)
Frontotemporal dementia
+1 more
GConflicting classifications of pathogenicity
MAPT
(T30K)
Indel
(missense variant +1 more)
Frontotemporal dementia
GUncertain significance
MAPT
(T30I)
Single nucleotide variant
(missense variant +1 more)
Frontotemporal dementia
+4 more
GUncertain significance
MAPT
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
MAPT
Single nucleotide variant
(synonymous variant +1 more)
Frontotemporal dementia
+1 more
GBenign/Likely benign
MAPT
Single nucleotide variant
(synonymous variant +1 more)
Frontotemporal dementia
+1 more
GBenign/Likely benign
MAPT
(A41T)
Single nucleotide variant
(missense variant +1 more)
Frontotemporal dementia
GUncertain significance
MAPT
Single nucleotide variant
(intron variant)
Frontotemporal dementia
GLikely benign
MAPT
Single nucleotide variant
(intron variant)
Frontotemporal dementia
GLikely benign
MAPT
(E45V)
Single nucleotide variant
(missense variant +2 more)
Frontotemporal dementia
GUncertain significance
MAPT
Single nucleotide variant
(synonymous variant +2 more)
Frontotemporal dementia
GLikely benign
MAPT
(E53D)
Single nucleotide variant
(missense variant +2 more)
Frontotemporal dementia
GUncertain significance
MAPT
(P59L)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GBenign
MAPT
Single nucleotide variant
(synonymous variant +2 more)
Frontotemporal dementia
+1 more
GLikely benign
MAPT
Single nucleotide variant
(synonymous variant +2 more)
Frontotemporal dementia
GLikely benign
MAPT
Single nucleotide variant
(synonymous variant +2 more)
Frontotemporal dementia
GLikely benign
MAPT
Deletion
(intron variant)
Frontotemporal dementia
GUncertain significance
MAPT
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign
MAPT
Single nucleotide variant
(synonymous variant +1 more)
Frontotemporal dementia
+1 more
GLikely benign
MAPT
(P78A)
Single nucleotide variant
(missense variant +1 more)
Frontotemporal dementia
GUncertain significance
MAPT
Single nucleotide variant
(synonymous variant +1 more)
Frontotemporal dementia
GLikely benign
MAPT
Single nucleotide variant
(synonymous variant +1 more)
Frontotemporal dementia
GLikely benign
MAPT
(A91T)
Single nucleotide variant
(missense variant +1 more)
Frontotemporal dementia
GUncertain significance
MAPT
(A91V)
Single nucleotide variant
(missense variant +1 more)
Frontotemporal dementia
GUncertain significance
MAPT
(T95M)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GConflicting classifications of pathogenicity
MAPT
Single nucleotide variant
(intron variant)
Frontotemporal dementia
GUncertain significance
MAPT
Single nucleotide variant
(intron variant)
not provided
+7 more
GBenign
MAPT
Single nucleotide variant
(intron variant)
Frontotemporal dementia
+1 more
GConflicting classifications of pathogenicity
MAPT
(G78S +2 more)
Single nucleotide variant
(missense variant +1 more)
Frontotemporal dementia
GUncertain significance
MAPT
(G107D +2 more)
Single nucleotide variant
(missense variant +1 more)
Frontotemporal dementia
GUncertain significance
MAPT
(G107V +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GUncertain significance
MAPT
(I108V +2 more)
Single nucleotide variant
(missense variant +1 more)
Frontotemporal dementia
GUncertain significance
MAPT
(S113T +2 more)
Single nucleotide variant
(missense variant +1 more)
Frontotemporal dementia
GUncertain significance
MAPT
(E115D +2 more)
Single nucleotide variant
(missense variant +1 more)
Frontotemporal dementia
GUncertain significance
MAPT
Single nucleotide variant
(synonymous variant +1 more)
Frontotemporal dementia
GLikely benign
MAPT
(E117K +2 more)
Single nucleotide variant
(missense variant +1 more)
Frontotemporal dementia
GUncertain significance
MAPT
(A60G +2 more)
Single nucleotide variant
(missense variant +1 more)
Frontotemporal dementia
GUncertain significance
MAPT
Single nucleotide variant
(synonymous variant +1 more)
Frontotemporal dementia
GLikely benign
MAPT
(P126S +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GConflicting classifications of pathogenicity
MAPT
(F136fs +1 more)
Deletion
(frameshift variant +1 more)
Frontotemporal dementia
GUncertain significance
MAPT
(P140S +1 more)
Single nucleotide variant
(missense variant +1 more)
Frontotemporal dementia
GBenign
MAPT
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
MAPT
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
MAPT
Single nucleotide variant
(synonymous variant +1 more)
Frontotemporal dementia
GLikely benign
MAPT
(T178S +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
MAPT
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
MAPT
(R182C +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
MAPT
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
MAPT
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
MAPT
(P202L +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GBenign
MAPT
(A206S +1 more)
Single nucleotide variant
(missense variant +1 more)
Frontotemporal dementia
GUncertain significance
MAPT
(G213R +1 more)
Single nucleotide variant
(missense variant +1 more)
Frontotemporal dementia
+1 more
GBenign/Likely benign
MAPT
(R222C +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
MAPT
(V224G +1 more)
Single nucleotide variant
(missense variant +1 more)
Frontotemporal dementia
+1 more
GBenign/Likely benign
MAPT
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GBenign/Likely benign
MAPT
(Q230R +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+6 more
GBenign/Likely benign
MAPT
Single nucleotide variant
(synonymous variant +1 more)
Frontotemporal dementia
GLikely benign
MAPT
(A250T +1 more)
Single nucleotide variant
(missense variant +1 more)
Frontotemporal dementia
GLikely benign
MAPT
Single nucleotide variant
(synonymous variant +1 more)
Frontotemporal dementia
GUncertain significance
MAPT
Single nucleotide variant
(synonymous variant +1 more)
Frontotemporal dementia
GLikely benign
MAPT
(S282L +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GConflicting classifications of pathogenicity
MAPT
(D285N +1 more)
Single nucleotide variant
(missense variant +1 more)
Frontotemporal dementia
+2 more
GBenign
MAPT
Single nucleotide variant
(synonymous variant +1 more)
Frontotemporal dementia
+2 more
GBenign
MAPT
(V289A +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GBenign
MAPT
(A297G +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
MAPT
Single nucleotide variant
(synonymous variant +1 more)
Frontotemporal dementia
GLikely benign
MAPT
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
MAPT
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
MAPT
(V311M +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GConflicting classifications of pathogenicity
MAPT
(K313N +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
MAPT
(S318L +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GBenign
MAPT
(R338Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
MAPT
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
MAPT
(V368I +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
MAPT
(R370W +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GBenign
MAPT
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
MAPT
(R452H +4 more)
Single nucleotide variant
(missense variant +1 more)
Frontotemporal dementia
GUncertain significance
MAPT
Single nucleotide variant
(synonymous variant +1 more)
Frontotemporal dementia
GLikely benign
MAPT
(S71N +4 more)
Single nucleotide variant
(missense variant +1 more)
Frontotemporal dementia
GUncertain significance
MAPT
(K130E +4 more)
Single nucleotide variant
(missense variant +1 more)
Frontotemporal dementia
GUncertain significance
MAPT
(D459N +4 more)
Single nucleotide variant
(missense variant +1 more)
Frontotemporal dementia
GUncertain significance
MAPT
Single nucleotide variant
(synonymous variant +1 more)
Frontotemporal dementia
GLikely benign
MAPT
(G105R +4 more)
Single nucleotide variant
(missense variant +1 more)
Frontotemporal dementia
GUncertain significance
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