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Items: 1 to 100 of 869

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129929105, LOC129929106
+2149 more
Copy number gain
Trisomy 12p
GPathogenic
ACAP3, ACOT7
+806 more
Copy number loss
See cases
GPathogenic
LINC02783, LINC03126
+804 more
Copy number loss
See cases
GPathogenic
AADACL3, AADACL4
+500 more
Copy number loss
See cases
GPathogenic
LOC129929435, LOC129929436
+505 more
Copy number loss
See cases
GPathogenic
PLOD1, PRAMEF1
+730 more
Copy number loss
See cases
GPathogenic
LOC129929327, LOC129929328
+557 more
Copy number loss
See cases
GPathogenic
AADACL3, AADACL4
+563 more
Copy number gain
See cases
GPathogenic
AADACL3, AADACL4
+387 more
Copy number gain
See cases
GPathogenic
AADACL3, AADACL4
+386 more
Copy number loss
See cases
GPathogenic
AGTRAP, ANGPTL7
+309 more
Copy number loss
See cases
GPathogenic
CA6, CLSTN1
+107 more
Copy number gain
See cases
GUncertain significance
CA6, ENO1
+69 more
Copy number gain
See cases
GUncertain significance
AADACL3, AADACL4
+462 more
Copy number loss
See cases
GPathogenic
AADACL4, AGTRAP
+280 more
Copy number loss
See cases
GPathogenic
CLSTN1, CTNNBIP1
+69 more
Copy number gain
See cases
GUncertain significance
AADACL3, AADACL4
+370 more
Copy number loss
See cases
GPathogenic
PIK3CD, PIK3CD-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
PIK3CD, PIK3CD-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
PIK3CD, PIK3CD-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GBenign
PIK3CD
(P2T)
Single nucleotide variant
(missense variant)
Immunodeficiency 14
GLikely benign
PIK3CD
(P2L)
Single nucleotide variant
(missense variant)
Immunodeficiency 14
GUncertain significance
PIK3CD
Single nucleotide variant
(synonymous variant)
Immunodeficiency 14
GLikely benign
PIK3CD
(P3L)
Single nucleotide variant
(missense variant)
Immunodeficiency 14
GUncertain significance
PIK3CD
Single nucleotide variant
(synonymous variant)
Immunodeficiency 14
GLikely benign
PIK3CD
Single nucleotide variant
(synonymous variant)
Immunodeficiency 14
GLikely benign
PIK3CD
(D6A)
Single nucleotide variant
(missense variant)
Immunodeficiency 14
GUncertain significance
PIK3CD
(D6G)
Single nucleotide variant
(missense variant)
Immunodeficiency 14
GUncertain significance
PIK3CD
Single nucleotide variant
(synonymous variant)
Immunodeficiency 14
GLikely benign
PIK3CD
(E10D)
Single nucleotide variant
(missense variant)
Immunodeficiency 14
+1 more
GUncertain significance
PIK3CD
Single nucleotide variant
(synonymous variant)
Immunodeficiency 14
GLikely benign
PIK3CD
(K14T)
Single nucleotide variant
(missense variant)
Immunodeficiency 14
GUncertain significance
PIK3CD
Single nucleotide variant
(synonymous variant)
Immunodeficiency 14
GLikely benign
PIK3CD
(V20I)
Single nucleotide variant
(missense variant)
Immunodeficiency 14
GUncertain significance
PIK3CD
(V21A)
Single nucleotide variant
(missense variant)
Immunodeficiency 14
GUncertain significance
PIK3CD
Single nucleotide variant
(synonymous variant)
Immunodeficiency 14
GLikely benign
PIK3CD
Single nucleotide variant
(synonymous variant)
Immunodeficiency 14
GLikely benign
PIK3CD
Single nucleotide variant
(synonymous variant)
Immunodeficiency 14
GLikely benign
PIK3CD
Single nucleotide variant
(synonymous variant)
Immunodeficiency 14
GLikely benign
PIK3CD
Single nucleotide variant
(synonymous variant)
Immunodeficiency 14
GLikely benign
PIK3CD
Single nucleotide variant
(synonymous variant)
Immunodeficiency 14
GLikely benign
PIK3CD
(P35fs)
Deletion
(frameshift variant)
Immunodeficiency 14
GUncertain significance
PIK3CD
Single nucleotide variant
(synonymous variant)
Immunodeficiency 14
GLikely benign
PIK3CD
(R38S)
Single nucleotide variant
(missense variant)
Immunodeficiency 14
GUncertain significance
PIK3CD
(R38C)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
PIK3CD
(R38L)
Single nucleotide variant
(missense variant)
Immunodeficiency 14
GUncertain significance
PIK3CD
Single nucleotide variant
(synonymous variant)
Immunodeficiency 14
GLikely benign
PIK3CD
(N41H)
Single nucleotide variant
(missense variant)
Immunodeficiency 14
GUncertain significance
PIK3CD
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PIK3CD
(I45V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PIK3CD
Single nucleotide variant
(synonymous variant)
Immunodeficiency 14
GLikely benign
PIK3CD
Single nucleotide variant
(intron variant)
Immunodeficiency 14
GUncertain significance
PIK3CD
Single nucleotide variant
(intron variant)
Immunodeficiency 14
GLikely benign
PIK3CD
Single nucleotide variant
(intron variant)
Immunodeficiency 14
GLikely benign
PIK3CD
Single nucleotide variant
(intron variant)
Immunodeficiency 14
GLikely benign
PIK3CD
Microsatellite
(intron variant)
not specified
GBenign
PIK3CD
Single nucleotide variant
(intron variant)
not provided
GBenign
PIK3CD
Single nucleotide variant
(intron variant)
not provided
GBenign
PIK3CD
Single nucleotide variant
(intron variant)
not provided
GBenign
PIK3CD
Single nucleotide variant
(intron variant)
Immunodeficiency 14
GLikely benign
PIK3CD
Single nucleotide variant
(intron variant)
Immunodeficiency 14
GLikely benign
PIK3CD
Single nucleotide variant
(intron variant)
Immunodeficiency 14
GBenign
PIK3CD
Single nucleotide variant
(intron variant)
Immunodeficiency 14
GLikely benign
PIK3CD
Single nucleotide variant
(intron variant)
Immunodeficiency 14
GUncertain significance
PIK3CD
(R52H)
Single nucleotide variant
(missense variant)
Immunodeficiency 14
GUncertain significance
PIK3CD
Single nucleotide variant
(synonymous variant)
Immunodeficiency 14
GLikely benign
PIK3CD
(Y55D)
Single nucleotide variant
(missense variant)
Immunodeficiency 14
GUncertain significance
PIK3CD
(Y55C)
Single nucleotide variant
(missense variant)
Immunodeficiency 14
GUncertain significance
PIK3CD
Single nucleotide variant
(synonymous variant)
Immunodeficiency 14
GLikely benign
PIK3CD
(L58fs)
Deletion
(frameshift variant)
Immunodeficiency 14
GUncertain significance
PIK3CD
Single nucleotide variant
(synonymous variant)
Immunodeficiency 14
GLikely benign
PIK3CD
Single nucleotide variant
(synonymous variant)
Immunodeficiency 14
GLikely benign
PIK3CD
(M61V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PIK3CD
Single nucleotide variant
(synonymous variant)
Immunodeficiency 14
GLikely benign
PIK3CD
Single nucleotide variant
(synonymous variant)
Immunodeficiency 14
GLikely benign
PIK3CD
Single nucleotide variant
(synonymous variant)
Immunodeficiency 14
GUncertain significance
PIK3CD
Single nucleotide variant
(synonymous variant)
Immunodeficiency 14
GLikely benign
PIK3CD
Single nucleotide variant
(synonymous variant)
Immunodeficiency 14
GUncertain significance
PIK3CD
(N74S)
Single nucleotide variant
(missense variant)
Immunodeficiency 14
GUncertain significance
PIK3CD
(A77V)
Single nucleotide variant
(missense variant)
Immunodeficiency 14
GUncertain significance
PIK3CD
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
PIK3CD
(E78K)
Single nucleotide variant
(missense variant)
PIK3CD-related disorder
GUncertain significance
PIK3CD
(E78D)
Single nucleotide variant
(missense variant)
PIK3CD-related disorder
GUncertain significance
PIK3CD
Single nucleotide variant
(synonymous variant)
Immunodeficiency 14
GLikely benign
PIK3CD
(Q79fs)
Deletion
(frameshift variant)
Immunodeficiency 14
GUncertain significance
PIK3CD
Single nucleotide variant
(synonymous variant)
Immunodeficiency 14
GBenign
PIK3CD
(R87W)
Single nucleotide variant
(missense variant)
Immunodeficiency 14
GUncertain significance
PIK3CD
Single nucleotide variant
(synonymous variant)
Immunodeficiency 14
GLikely benign
PIK3CD
(R88C)
Single nucleotide variant
(missense variant)
Immunodeficiency 14
GUncertain significance
PIK3CD
(L89fs)
Deletion
(frameshift variant)
Immunodeficiency 14b, autosomal recessive
GLikely pathogenic
PIK3CD
Single nucleotide variant
(synonymous variant)
Immunodeficiency 14
GLikely benign
PIK3CD
(V98I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PIK3CD
Single nucleotide variant
(synonymous variant)
Immunodeficiency 14
GLikely benign
PIK3CD
Single nucleotide variant
(synonymous variant)
Immunodeficiency 14
GLikely benign
PIK3CD
(V102M)
Single nucleotide variant
(missense variant)
Immunodeficiency 14
GUncertain significance
PIK3CD
(A103T)
Single nucleotide variant
(missense variant)
PIK3CD-related disorder
+1 more
GUncertain significance
PIK3CD
(R104C)
Single nucleotide variant
(missense variant)
Immunodeficiency 14
GUncertain significance
PIK3CD
(D107fs)
Duplication
(frameshift variant)
Immunodeficiency 14b, autosomal recessive
GLikely pathogenic
PIK3CD
Single nucleotide variant
(synonymous variant)
Immunodeficiency 14
GLikely benign
PIK3CD
(R108C)
Single nucleotide variant
(missense variant)
Immunodeficiency 14
+1 more
GUncertain significance
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