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Items: 1 to 100 of 1273

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129937268, LOC129937269
+2645 more
Copy number gain
See cases
GPathogenic
BDH1, C3orf33
+1449 more
Copy number gain
See cases
GPathogenic
LOC129938007, LOC129938008
+1317 more
Copy number gain
See cases
GPathogenic
LOC129938312, LOC129938313
+1246 more
Copy number gain
See cases
GPathogenic
LOC129937897, LOC129937898
+1244 more
Copy number gain
See cases
GPathogenic
LOC129938023, LOC129938024
+1200 more
Copy number gain
See cases
GPathogenic
ACTL6A, ACTRT3
+306 more
Copy number gain
See cases
GPathogenic
LOC129938326, LOC129938327
+1064 more
Copy number gain
See cases
GPathogenic
ABCC5, ABCC5-AS1
+627 more
Copy number gain
See cases
GLikely pathogenic
LOC129938320, LOC129938321
+1041 more
Copy number gain
See cases
GPathogenic
ABCC5, ABCC5-AS1
+867 more
Copy number gain
See cases
GPathogenic
ZMAT3, ZNF639
+866 more
Copy number gain
See cases
GPathogenic
ALG3, AP2M1
+280 more
Duplication
Currarino triad
GLikely pathogenic
ACTL6A, GNB4
+51 more
Copy number gain
See cases
GLikely benign
PIK3CA
Single nucleotide variant
(5 prime UTR variant)
Cowden syndrome 1
GLikely benign
PIK3CA
Single nucleotide variant
(intron variant)
Hereditary cancer-predisposing syndrome
GLikely benign
PIK3CA
Single nucleotide variant
(intron variant)
not provided
GBenign
PIK3CA
Single nucleotide variant
(intron variant)
Hereditary cancer-predisposing syndrome
GLikely benign
PIK3CA
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PIK3CA
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PIK3CA
Duplication
Cowden syndrome
GUncertain significance
PIK3CA
(M1V)
Single nucleotide variant
(missense variant +1 more)
Megalencephaly-capillary malformation-polymicrogyria syndrome
+2 more
GUncertain significance
PIK3CA
(M1T)
Single nucleotide variant
(missense variant +1 more)
Cowden syndrome 5
GUncertain significance
PIK3CA
(P2S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PIK3CA
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
GLikely benign
PIK3CA
(R4P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PIK3CA
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+1 more
GLikely benign
PIK3CA
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
GLikely benign
PIK3CA
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
GLikely benign
PIK3CA
(L10fs)
Deletion
(frameshift variant)
Cowden syndrome
GUncertain significance
PIK3CA
(L10P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PIK3CA
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+1 more
GLikely benign
PIK3CA
Deletion
(inframe_indel)
not provided
GLikely pathogenic
PIK3CA
(I13V)
Single nucleotide variant
(missense variant)
Cowden syndrome
GUncertain significance
PIK3CA
(H14Y)
Single nucleotide variant
(missense variant)
Cowden syndrome
GUncertain significance
PIK3CA
Single nucleotide variant
(synonymous variant)
Cowden syndrome
+1 more
GLikely benign
PIK3CA
(H14Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PIK3CA
(L15W)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PIK3CA
(L15F)
Single nucleotide variant
(missense variant)
Cowden syndrome
+1 more
GUncertain significance
PIK3CA
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
GLikely benign
PIK3CA
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
GLikely benign
PIK3CA
(P18S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PIK3CA
Single nucleotide variant
(synonymous variant)
Cowden syndrome
+1 more
GLikely benign
PIK3CA
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
GLikely benign
PIK3CA
(L21I)
Single nucleotide variant
(missense variant)
Cowden syndrome
GUncertain significance
PIK3CA
Single nucleotide variant
(synonymous variant)
Cowden syndrome
+1 more
GLikely benign
PIK3CA
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
GLikely benign
PIK3CA
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
GLikely benign
PIK3CA
(E23D)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PIK3CA
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
GLikely benign
PIK3CA
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
GLikely benign
PIK3CA
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
GLikely benign
PIK3CA
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
GLikely benign
PIK3CA
(I31L)
Single nucleotide variant
(missense variant)
Cowden syndrome
+1 more
GUncertain significance
PIK3CA
(I31M)
Single nucleotide variant
(missense variant)
Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes
GUncertain significance
PIK3CA
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
GLikely benign
PIK3CA
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
GLikely benign
PIK3CA
(T33I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PIK3CA
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
GLikely benign
PIK3CA
(E35Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
PIK3CA
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
GLikely benign
PIK3CA
(R38G)
Single nucleotide variant
(missense variant)
Malignant neoplasm of body of uterus
+5 more
GLikely pathogenic
PIK3CA
(R38S)
Single nucleotide variant
(missense variant)
Malignant neoplasm of body of uterus
+5 more
GLikely pathogenic
PIK3CA
(R38C)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PIK3CA
(R38L)
Single nucleotide variant
(missense variant)
Malignant neoplasm of body of uterus
+5 more
GLikely pathogenic
PIK3CA
(R38H)
Single nucleotide variant
(missense variant)
Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes
GLikely pathogenic
PIK3CA
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
GLikely benign
PIK3CA
(I45T)
Single nucleotide variant
(missense variant)
Cowden syndrome
GUncertain significance
PIK3CA
(H47Y)
Single nucleotide variant
(missense variant)
Cowden syndrome
GUncertain significance
PIK3CA
(H47R)
Single nucleotide variant
(missense variant)
Cowden syndrome
+1 more
GUncertain significance
PIK3CA
(H47Q)
Single nucleotide variant
(missense variant)
Cowden syndrome
GUncertain significance
PIK3CA
Single nucleotide variant
(synonymous variant)
Cowden syndrome
GLikely benign
PIK3CA
(F50L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PIK3CA
(K51R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PIK3CA
(E52Q)
Single nucleotide variant
(missense variant)
Cowden syndrome
GUncertain significance
PIK3CA
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
GLikely benign
PIK3CA
Single nucleotide variant
(synonymous variant)
Cowden syndrome
+2 more
GLikely benign
PIK3CA
Single nucleotide variant
(synonymous variant)
Cowden syndrome
+1 more
GLikely benign
PIK3CA
Single nucleotide variant
(synonymous variant)
Cowden syndrome
+1 more
GLikely benign
PIK3CA
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+1 more
GLikely benign
PIK3CA
(H59Y)
Single nucleotide variant
(missense variant)
Cowden syndrome
GUncertain significance
PIK3CA
(H59P)
Single nucleotide variant
(missense variant)
Cowden syndrome
GUncertain significance
PIK3CA
(Q60K)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PIK3CA
(Q60P)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PIK3CA
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
GLikely benign
PIK3CA
(L61F)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PIK3CA
(L61I)
Single nucleotide variant
(missense variant)
Cowden syndrome
GUncertain significance
PIK3CA
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
GLikely benign
PIK3CA
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+1 more
GLikely benign
PIK3CA
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
GLikely benign
PIK3CA
Single nucleotide variant
(synonymous variant)
Cowden syndrome
+1 more
GLikely benign
PIK3CA
(Q63H)
Single nucleotide variant
(missense variant)
Cowden syndrome
+1 more
GUncertain significance
PIK3CA
(E65D)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PIK3CA
Single nucleotide variant
(synonymous variant)
Cowden syndrome
+1 more
GLikely benign
PIK3CA
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
GLikely benign
PIK3CA
Single nucleotide variant
(synonymous variant)
Cowden syndrome
GLikely benign
PIK3CA
Single nucleotide variant
(synonymous variant)
Cowden syndrome
+1 more
GLikely benign
PIK3CA
(V71I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
PIK3CA
Single nucleotide variant
(synonymous variant)
Cowden syndrome
+1 more
GLikely benign
PIK3CA
(S72G)
Single nucleotide variant
(missense variant)
Cowden syndrome
GUncertain significance
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