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Items: 10

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MAPT
(P4T)
Single nucleotide variant
(missense variant +1 more)
Frontotemporal dementia
+4 more
GUncertain significance
MAPT
(T30I)
Single nucleotide variant
(missense variant +1 more)
Frontotemporal dementia
+4 more
GUncertain significance
MAPT
Single nucleotide variant
(intron variant)
Frontotemporal dementia
+7 more
GBenign
MAPT
(Q230R +1 more)
Single nucleotide variant
(missense variant +1 more)
Parkinson disease, late-onset
+6 more
GBenign/Likely benign
MAPT
(S273P +1 more)
Single nucleotide variant
(missense variant +1 more)
MAPT-related disorder
+6 more
GUncertain significance
MAPT
(R546C +6 more)
Single nucleotide variant
(missense variant)
Supranuclear palsy, progressive, 1
+4 more
GUncertain significance
MAPT
Single nucleotide variant
(synonymous variant +1 more)
Frontotemporal dementia
+4 more
GLikely benign
MAPT
(V242I +5 more)
Single nucleotide variant
(missense variant +1 more)
Frontotemporal dementia
+5 more
GBenign/Likely benign
MAPT
(P301L +5 more)
Single nucleotide variant
(missense variant +1 more)
Progressive supranuclear ophthalmoplegia
+5 more
GPathogenic
MAPT
(R406W +9 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+5 more
GPathogenic
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