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Items: 1 to 100 of 1342

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABCA10, ADAM11
+2032 more
Copy number gain
See cases
GPathogenic
LOC130060795, LOC130060796
+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
CRHR1, KANSL1
+9 more
Copy number loss
See cases
GPathogenic
CRHR1, LOC126862576
+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
CRHR1, KANSL1
+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
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 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, KANSL1
+11 more
Copy number loss
See cases
GPathogenic
KANSL1, MAPT
Single nucleotide variant
(3 prime UTR variant +1 more)
Syndromic intellectual disability
+1 more
GLikely benign
KANSL1, MAPT
Single nucleotide variant
(3 prime UTR variant +1 more)
Syndromic intellectual disability
+1 more
GBenign/Likely benign
KANSL1, MAPT
Single nucleotide variant
(3 prime UTR variant +1 more)
Syndromic intellectual disability
+1 more
GBenign
KANSL1, MAPT
Single nucleotide variant
(3 prime UTR variant +1 more)
Syndromic intellectual disability
+1 more
GBenign
KANSL1, MAPT
Insertion
(3 prime UTR variant +1 more)
Syndromic intellectual disability
+1 more
GBenign
KANSL1, MAPT
Single nucleotide variant
(3 prime UTR variant +1 more)
Syndromic intellectual disability
+1 more
GBenign
KANSL1, MAPT
Single nucleotide variant
(3 prime UTR variant +1 more)
Syndromic intellectual disability
+1 more
GLikely benign
KANSL1, MAPT
Single nucleotide variant
(3 prime UTR variant +1 more)
Syndromic intellectual disability
+1 more
GLikely benign
KANSL1, MAPT
Single nucleotide variant
(3 prime UTR variant +1 more)
Syndromic intellectual disability
+1 more
GLikely benign
KANSL1, MAPT
Single nucleotide variant
(3 prime UTR variant +1 more)
Syndromic intellectual disability
+1 more
GLikely benign
KANSL1, MAPT
Single nucleotide variant
(3 prime UTR variant +1 more)
Syndromic intellectual disability
+1 more
GBenign
KANSL1, MAPT
Single nucleotide variant
(3 prime UTR variant +1 more)
Syndromic intellectual disability
+1 more
GBenign
KANSL1, MAPT
Single nucleotide variant
(3 prime UTR variant +1 more)
Syndromic intellectual disability
+1 more
GLikely benign
KANSL1, MAPT
Single nucleotide variant
(3 prime UTR variant +1 more)
Syndromic intellectual disability
+1 more
GBenign
KANSL1, MAPT
Single nucleotide variant
(3 prime UTR variant +1 more)
Syndromic intellectual disability
+1 more
GBenign
KANSL1, MAPT
Single nucleotide variant
(3 prime UTR variant +1 more)
Syndromic intellectual disability
+1 more
GBenign/Likely benign
KANSL1, MAPT
Single nucleotide variant
(3 prime UTR variant +1 more)
Syndromic intellectual disability
+1 more
GLikely benign
KANSL1, MAPT
Single nucleotide variant
(3 prime UTR variant +1 more)
Syndromic intellectual disability
+1 more
GBenign
KANSL1, MAPT
Single nucleotide variant
(3 prime UTR variant +1 more)
Syndromic intellectual disability
+1 more
GLikely benign
KANSL1, MAPT
Duplication
(no sequence alteration +1 more)
Syndromic intellectual disability
+1 more
GBenign
KANSL1, MAPT
Single nucleotide variant
(3 prime UTR variant +1 more)
Syndromic intellectual disability
+1 more
GLikely benign
KANSL1, MAPT
Single nucleotide variant
(3 prime UTR variant +1 more)
Syndromic intellectual disability
+1 more
GLikely benign
KANSL1, MAPT
Single nucleotide variant
(3 prime UTR variant +1 more)
Syndromic intellectual disability
+1 more
GLikely benign
KANSL1, MAPT
Single nucleotide variant
(3 prime UTR variant +1 more)
Syndromic intellectual disability
+1 more
GLikely benign
KANSL1, MAPT
Single nucleotide variant
(3 prime UTR variant +1 more)
Syndromic intellectual disability
+1 more
GLikely benign
KANSL1, MAPT
Single nucleotide variant
(3 prime UTR variant +1 more)
Syndromic intellectual disability
+1 more
GBenign
KANSL1, MAPT
Single nucleotide variant
(3 prime UTR variant +1 more)
Syndromic intellectual disability
+1 more
GLikely benign
KANSL1
Deletion
(3 prime UTR variant)
Syndromic intellectual disability
GUncertain significance
KANSL1
Microsatellite
(3 prime UTR variant)
not provided
GBenign
KANSL1
Duplication
(3 prime UTR variant)
Syndromic intellectual disability
GUncertain significance
KANSL1, MAPT
Deletion
(3 prime UTR variant)
Syndromic intellectual disability
+1 more
GBenign
KANSL1
Duplication
(3 prime UTR variant)
Syndromic intellectual disability
GUncertain significance
KANSL1, MAPT
Deletion
(3 prime UTR variant)
Syndromic intellectual disability
+1 more
GBenign
KANSL1, MAPT
Deletion
(3 prime UTR variant)
Syndromic intellectual disability
+1 more
GBenign
KANSL1
Duplication
(3 prime UTR variant)
Syndromic intellectual disability
GUncertain significance
KANSL1, MAPT
Duplication
(3 prime UTR variant)
MAPT-Related Spectrum Disorders
GBenign
KANSL1, MAPT
Single nucleotide variant
(3 prime UTR variant)
Syndromic intellectual disability
+1 more
GLikely benign
KANSL1
Duplication
(3 prime UTR variant)
Syndromic intellectual disability
GUncertain significance
KANSL1, MAPT
Single nucleotide variant
(3 prime UTR variant)
Syndromic intellectual disability
+1 more
GLikely benign
KANSL1, MAPT
Single nucleotide variant
(3 prime UTR variant)
Syndromic intellectual disability
+1 more
GLikely benign
KANSL1
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GConflicting classifications of pathogenicity
KANSL1, MAPT
Deletion
(3 prime UTR variant)
Syndromic intellectual disability
+1 more
GBenign
KANSL1, MAPT
Single nucleotide variant
(3 prime UTR variant)
Syndromic intellectual disability
+1 more
GBenign
KANSL1, MAPT
Single nucleotide variant
(3 prime UTR variant)
MAPT-Related Spectrum Disorders
GBenign
KANSL1, MAPT
Single nucleotide variant
(3 prime UTR variant)
Syndromic intellectual disability
+1 more
GLikely benign
KANSL1, MAPT
Single nucleotide variant
(3 prime UTR variant)
MAPT-Related Spectrum Disorders
GBenign
KANSL1, MAPT
Single nucleotide variant
(3 prime UTR variant)
Syndromic intellectual disability
+1 more
GLikely benign
KANSL1, MAPT
Insertion
(3 prime UTR variant)
Syndromic intellectual disability
+1 more
GBenign
KANSL1, MAPT
Single nucleotide variant
(3 prime UTR variant)
Syndromic intellectual disability
+1 more
GLikely benign
KANSL1, MAPT
Deletion
(3 prime UTR variant)
not provided
+2 more
GLikely benign
KANSL1
Microsatellite
(3 prime UTR variant)
Syndromic intellectual disability
GUncertain significance
KANSL1
Deletion
Koolen-de Vries syndrome
GPathogenic
KANSL1
Duplication
Koolen-de Vries syndrome
GUncertain significance
KANSL1
Single nucleotide variant
(3 prime UTR variant)
not provided
GBenign
KANSL1
Single nucleotide variant
(3 prime UTR variant)
not provided
GLikely benign
KANSL1
Single nucleotide variant
(3 prime UTR variant)
not specified
GLikely benign
KANSL1
(R1026G +11 more)
Single nucleotide variant
(missense variant)
Koolen-de Vries syndrome
GUncertain significance
KANSL1
(H1103fs +1 more)
Microsatellite
(frameshift variant)
not provided
+1 more
GUncertain significance
KANSL1
(H1041Q +11 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
KANSL1
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign/Likely benign
KANSL1
(P1023Q +11 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KANSL1
(P1102L +1 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GLikely benign
KANSL1
(T1039fs +11 more)
Duplication
(frameshift variant)
Koolen-de Vries syndrome
GUncertain significance
KANSL1
(R1022H +11 more)
Single nucleotide variant
(missense variant)
Koolen-de Vries syndrome
GUncertain significance
KANSL1
(R1057C +11 more)
Single nucleotide variant
(missense variant)
Koolen-de Vries syndrome
GUncertain significance
KANSL1
Single nucleotide variant
(synonymous variant)
Koolen-de Vries syndrome
GLikely benign
KANSL1
(Q1100E +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
KANSL1
(A1064V +11 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KANSL1
(A1036P +11 more)
Single nucleotide variant
(missense variant)
Koolen-de Vries syndrome
GUncertain significance
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