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Items: 1 to 100 of 630

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC112533659, LOC112533660
+2032 more
Copy number gain
See cases
GPathogenic
AARSD1, AATF
+1753 more
Copy number gain
See cases
GPathogenic
CRHR1, KANSL1
+11 more
Copy number loss
See cases
GPathogenic
CRHR1, KANSL1
+9 more
Copy number loss
See cases
GPathogenic
LOC121852934, CRHR1
+9 more
Copy number loss
See cases
GPathogenic
CRHR1, KANSL1
+12 more
Copy number loss
See cases
GPathogenic
ARL17B, CRHR1
+13 more
Copy number loss
See cases
GPathogenic
CRHR1, KANSL1
+12 more
Copy number loss
See cases
GPathogenic
LOC121852934, CRHR1
+10 more
Copy number loss
See cases
GPathogenic
CRHR1, KANSL1
+9 more
Copy number loss
See cases
GPathogenic
CRHR1, KANSL1
+9 more
Copy number loss
See cases
GPathogenic
CRHR1, KANSL1
+12 more
Copy number loss
See cases
GPathogenic
ARL17A, ARL17B
+19 more
Copy number loss
See cases
GPathogenic
CRHR1, KANSL1
+9 more
Copy number loss
See cases
GPathogenic
CRHR1, KANSL1
+12 more
Copy number loss
See cases
GPathogenic
LOC121852934, CRHR1
+9 more
Copy number loss
See cases
GPathogenic
CRHR1, KANSL1
+9 more
Copy number loss
See cases
GPathogenic
CRHR1, KANSL1
+9 more
Copy number loss
See cases
GPathogenic
CRHR1, KANSL1
+9 more
Copy number loss
See cases
GPathogenic
CRHR1, KANSL1
+9 more
Copy number gain
See cases
GUncertain significance
CRHR1, KANSL1
+12 more
Copy number loss
See cases
GPathogenic
CRHR1, KANSL1
+9 more
Copy number loss
See cases
GPathogenic
LOC121852934, CRHR1
+9 more
Copy number loss
See cases
GPathogenic
CRHR1, KANSL1
+9 more
Copy number loss
See cases
GPathogenic
CRHR1, KANSL1
+9 more
Copy number loss
See cases
GPathogenic
ARL17A, ARL17B
+19 more
Copy number loss
See cases
GPathogenic
CRHR1, KANSL1
+9 more
Copy number loss
See cases
GPathogenic
CRHR1, KANSL1
+9 more
Copy number loss
See cases
GPathogenic
CRHR1, KANSL1
+12 more
Copy number loss
See cases
GPathogenic
CRHR1, KANSL1
+12 more
Copy number loss
See cases
GPathogenic
CRHR1, LINC02210-CRHR1
+6 more
Copy number gain
See cases
GUncertain significance
CRHR1, LINC02210-CRHR1
+6 more
Copy number gain
See cases
GUncertain significance
CRHR1, KANSL1
+11 more
Copy number loss
See cases
GPathogenic
MAPT-AS1, MAPT
Single nucleotide variant
MAPT-Related Spectrum Disorders
GUncertain significance
MAPT, MAPT-AS1
Single nucleotide variant
MAPT-Related Spectrum Disorders
GUncertain significance
MAPT, MAPT-AS1
Single nucleotide variant
MAPT-Related Spectrum Disorders
GUncertain significance
MAPT, MAPT-AS1
Single nucleotide variant
MAPT-Related Spectrum Disorders
GBenign
MAPT, MAPT-AS1
Single nucleotide variant
MAPT-Related Spectrum Disorders
GUncertain significance
MAPT, MAPT-AS1
Single nucleotide variant
MAPT-Related Spectrum Disorders
GUncertain significance
MAPT, MAPT-AS1
Single nucleotide variant
MAPT-Related Spectrum Disorders
GUncertain significance
MAPT, MAPT-AS1
Single nucleotide variant
MAPT-Related Spectrum Disorders
GUncertain significance
MAPT, MAPT-AS1
Single nucleotide variant
MAPT-Related Spectrum Disorders
GUncertain significance
MAPT, MAPT-AS1
Single nucleotide variant
(5 prime UTR variant +1 more)
MAPT-Related Spectrum Disorders
GUncertain significance
MAPT, MAPT-AS1
Single nucleotide variant
(5 prime UTR variant +1 more)
MAPT-Related Spectrum Disorders
GBenign
MAPT, MAPT-AS1
Deletion
(5 prime UTR variant +1 more)
MAPT-Related Spectrum Disorders
GBenign
MAPT, MAPT-AS1
Single nucleotide variant
(5 prime UTR variant +1 more)
MAPT-Related Spectrum Disorders
GUncertain significance
MAPT, MAPT-AS1
Single nucleotide variant
(intron variant)
Frontotemporal dementia
GBenign
MAPT
Single nucleotide variant
(intron variant)
not provided
GBenign
MAPT
Single nucleotide variant
(intron variant)
not provided
GBenign
MAPT
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MAPT
Single nucleotide variant
(intron variant)
not provided
GBenign
MAPT
Single nucleotide variant
(5 prime UTR variant +1 more)
MAPT-Related Spectrum Disorders
+2 more
GBenign
MAPT
(A2S)
Single nucleotide variant
(missense variant +1 more)
Frontotemporal dementia
GUncertain significance
MAPT
(P4T)
Single nucleotide variant
(missense variant +1 more)
Supranuclear palsy, progressive, 1
+4 more
GUncertain significance
MAPT
(R5C)
Single nucleotide variant
(missense variant +1 more)
Frontotemporal dementia
+1 more
GConflicting classifications of pathogenicity
MAPT
(R5L)
Single nucleotide variant
(missense variant +1 more)
Supranuclear palsy, progressive, 1
GPathogenic
MAPT
(R5H)
Single nucleotide variant
(missense variant +1 more)
MAPT-Related Spectrum Disorders
+1 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)
Parkinson disease, late-onset
+3 more
GUncertain significance
MAPT
(T17M)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GBenign/Likely benign
MAPT
Single nucleotide variant
(synonymous variant +1 more)
Frontotemporal dementia
+2 more
GLikely benign
MAPT
(G19R)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
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
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
MAPT
(R23S)
Single nucleotide variant
(missense variant +1 more)
Malignant tumor of prostate
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
(D34Y)
Single nucleotide variant
(missense variant +1 more)
Malignant tumor of prostate
GUncertain significance
MAPT
(G37V)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
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)
not specified
GUncertain significance
MAPT
Single nucleotide variant
(intron variant)
not provided
GBenign
MAPT
Insertion
(intron variant)
not provided
GBenign
MAPT
Deletion
(intron variant)
not provided
GBenign
MAPT
Deletion
(intron variant)
not provided
GBenign
MAPT
Single nucleotide variant
(intron variant)
not provided
GBenign
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)
not provided
GLikely benign
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
Single nucleotide variant
(synonymous variant +2 more)
MAPT-Related Spectrum Disorders
GUncertain significance
MAPT
(P59L)
Single nucleotide variant
(missense variant +2 more)
MAPT-related condition
+2 more
GBenign/Likely 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
(T69A)
Single nucleotide variant
(missense variant +2 more)
MAPT-related condition
GUncertain significance
MAPT
Single nucleotide variant
(synonymous variant +2 more)
Frontotemporal dementia
GLikely benign
MAPT
Deletion
(intron variant)
Frontotemporal dementia
GUncertain significance
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