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Items: 1 to 100 of 1478

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AARD, ABRA
+3658 more
Copy number gain
See cases
GPathogenic
LOC129999937, LOC129999938
+3658 more
Copy number gain
See cases
GPathogenic
PKHD1L1, PKIA
+3656 more
Copy number gain
See cases
GPathogenic
LOC126860501, LOC126860502
+3652 more
Copy number gain
See cases
GPathogenic
MIR7705, MIR7848
+3656 more
Copy number gain
See cases
GPathogenic
ADAM18, ADAM2
+935 more
Copy number gain
See cases
GPathogenic
LOC130000086, LOC130000087
+932 more
Copy number gain
See cases
GPathogenic
LOC121331299, LOC121331300
+868 more
Copy number gain
See cases
GPathogenic
ADAM18, ADAM2
+927 more
Copy number gain
See cases
GPathogenic
LOC130000305, LOC130000306
+927 more
Copy number gain
See cases
GPathogenic
LOC130000069, LOC130000070
+868 more
Copy number gain
See cases
GPathogenic
LOC130000275, LOC130000276
+927 more
Copy number gain
See cases
GPathogenic
LOC101929258, LOC101929470
+920 more
Copy number gain
See cases
GPathogenic
ADAM18, ADAM2
+920 more
Copy number gain
See cases
GPathogenic
TNFRSF10A, TNFRSF10A-DT
+920 more
Copy number gain
See cases
GPathogenic
ADAM18, ADAM2
+898 more
Copy number gain
See cases
GPathogenic
LOC130000156, LOC130000157
+3106 more
Copy number gain
See cases
GPathogenic
ADAM18, ADAM2
+591 more
Copy number gain
See cases
GPathogenic
ADAM18, ADAM2
+417 more
Copy number gain
See cases
GPathogenic
ADAM18, ADAM2
+276 more
Copy number loss
See cases
GPathogenic
LOC124174256, LOC124174257
+541 more
Copy number gain
See cases
GPathogenic
ADAM18, ADAM2
+180 more
Copy number gain
See cases
GPathogenic
ADAM2, ANK1
+184 more
Copy number gain
See cases
GPathogenic
ANK1, AP3M2
+122 more
Copy number gain
See cases
GPathogenic
LOC130000302, LOC130000303
+121 more
Copy number gain
See cases
GPathogenic
ANK1, AP3M2
+86 more
Copy number gain
See cases
GPathogenic
KAT6A
Single nucleotide variant
(3 prime UTR variant)
not provided
GBenign
KAT6A
Single nucleotide variant
(stop lost)
not provided
GUncertain significance
KAT6A
(R2004T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KAT6A
(R2003I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KAT6A
(M2002V)
Single nucleotide variant
(missense variant)
not provided
+2 more
GLikely benign
KAT6A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
KAT6A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
KAT6A
(G1999R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
KAT6A
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
KAT6A
(N1998S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KAT6A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
KAT6A
(Q1995R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KAT6A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
KAT6A
(V1992M)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
KAT6A
(V1992L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KAT6A
Single nucleotide variant
(synonymous variant)
not provided
GBenign
KAT6A
(G1991V)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
KAT6A
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
KAT6A
(A1989G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KAT6A
Single nucleotide variant
(synonymous variant)
not provided
GBenign
KAT6A
(N1988S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KAT6A
(M1987I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KAT6A
(S1985R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KAT6A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
KAT6A
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
GLikely benign
KAT6A
(M1977T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KAT6A
(M1977V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GLikely benign
KAT6A
(M1976I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KAT6A
(N1975S)
Single nucleotide variant
(missense variant)
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
GUncertain significance
KAT6A
(G1974E)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KAT6A
(P1972S)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
KAT6A
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+1 more
GBenign/Likely benign
KAT6A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
KAT6A
(M1968I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KAT6A
(M1968V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KAT6A
(M1968L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KAT6A
(A1962T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
KAT6A
(S1960N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KAT6A
(S1960R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KAT6A
Single nucleotide variant
(synonymous variant)
not provided
GBenign
KAT6A
(G1956R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KAT6A
(M1953V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KAT6A
(M1951V)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
KAT6A
(Q1948R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KAT6A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
KAT6A
(M1943V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KAT6A
(P1940L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KAT6A
(N1939K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KAT6A
(S1938G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
KAT6A
(H1937R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KAT6A
(H1937Y)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KAT6A
(M1931V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GBenign/Likely benign
KAT6A
(P1930S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KAT6A
Single nucleotide variant
(synonymous variant)
not provided
GBenign
KAT6A
(R1926Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KAT6A
(R1926G)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
KAT6A
(S1924N)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KAT6A
(S1924G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
KAT6A
(M1922T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KAT6A
(M1922V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
KAT6A
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
GLikely benign
KAT6A
(A1921T)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
KAT6A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
KAT6A
(N1917D)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
KAT6A
(M1914V)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
KAT6A
(N1912K)
Single nucleotide variant
(missense variant)
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
Gnot provided
KAT6A
(N1912S)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
KAT6A
(V1911I)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
KAT6A
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+1 more
GLikely benign
KAT6A
(A1908T)
Single nucleotide variant
(missense variant)
not provided
GBenign
KAT6A
(N1902S)
Single nucleotide variant
(missense variant)
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
GUncertain significance
KAT6A
(V1901L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KAT6A
(V1901fs)
Deletion
(frameshift variant)
Neurodevelopmental disorder
GLikely pathogenic
KAT6A
Single nucleotide variant
(synonymous variant)
not provided
GBenign
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