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Links from MedGen

Items: 1 to 100 of 118

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KAT6A
(P1721fs)
Deletion
(frameshift variant)
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
GLikely pathogenic
KAT6A
(K404E)
Single nucleotide variant
(missense variant)
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
GUncertain significance
KAT6A
(E1078D)
Single nucleotide variant
(missense variant)
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
GUncertain significance
KAT6A
(P1850S)
Single nucleotide variant
(missense variant)
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
GUncertain significance
KAT6A
(R299C)
Single nucleotide variant
(missense variant)
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
GUncertain significance
KAT6A
(R1021fs)
Duplication
(frameshift variant)
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
GUncertain significance
KAT6A
(E1241fs)
Deletion
(frameshift variant)
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
GLikely pathogenic
KAT6A
(D1115fs)
Deletion
(frameshift variant)
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
GPathogenic
KAT6A
(G976fs)
Deletion
(frameshift variant)
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
GPathogenic
KAT6A
(N1902S)
Single nucleotide variant
(missense variant)
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
GUncertain significance
KAT6A
(N1836fs)
Deletion
(frameshift variant)
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
GPathogenic
KAT6A
(Q1746fs)
Duplication
(frameshift variant)
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
GLikely pathogenic
KAT6A
(T1210N)
Single nucleotide variant
(missense variant)
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
GUncertain significance
KAT6A
(R748C)
Single nucleotide variant
(missense variant)
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
GUncertain significance
KAT6A
(K1224del)
Deletion
(inframe_deletion)
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
GUncertain significance
KAT6A
(N1975S)
Single nucleotide variant
(missense variant)
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
GUncertain significance
KAT6A
(K1410fs)
Deletion
(frameshift variant)
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
GLikely pathogenic
KAT6A
(G1590R)
Single nucleotide variant
(missense variant)
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
GUncertain significance
KAT6A
(Q743R)
Single nucleotide variant
(missense variant)
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
GUncertain significance
KAT6A
(R1129Q)
Single nucleotide variant
(missense variant)
KAT6A-related condition
+1 more
GUncertain significance
KAT6A
(K1170N)
Single nucleotide variant
(missense variant)
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
GUncertain significance
KAT6A
(S1458N)
Single nucleotide variant
(missense variant)
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
GUncertain significance
KAT6A
(S1548N)
Single nucleotide variant
(missense variant)
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
GUncertain significance
KAT6A
(Q1511H)
Single nucleotide variant
(missense variant)
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
GUncertain significance
KAT6A
(T1510A)
Single nucleotide variant
(missense variant)
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
GUncertain significance
KAT6A
(K198T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
KAT6A
(Q258*)
Single nucleotide variant
(nonsense)
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
GLikely pathogenic
KAT6A
(Q1433*)
Single nucleotide variant
(nonsense)
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
+1 more
GPathogenic/Likely pathogenic
KAT6A
(R269Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
KAT6A
(T347M)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
KAT6A
(F739L)
Single nucleotide variant
(missense variant)
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
+1 more
GConflicting classifications of pathogenicity
KAT6A
(N277S)
Single nucleotide variant
(missense variant)
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
+1 more
GConflicting classifications of pathogenicity
KAT6A
(K1633R)
Single nucleotide variant
(missense variant)
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
+1 more
GUncertain significance
KAT6A
(A1867G)
Single nucleotide variant
(missense variant)
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
GLikely benign
KAT6A
(K1134fs)
Duplication
(frameshift variant)
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
GPathogenic
KAT6A
(E1274*)
Single nucleotide variant
(nonsense)
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
GPathogenic
KAT6A
(S1126fs)
Deletion
(frameshift variant)
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
GPathogenic
KAT6A
Deletion
(nonsense)
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
GPathogenic
KAT6A
(I1556T)
Single nucleotide variant
(missense variant)
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
GLikely pathogenic
KAT6A
(S1542F)
Single nucleotide variant
(missense variant)
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
GUncertain significance
KAT6A
(T347fs)
Microsatellite
(frameshift variant)
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
GLikely pathogenic
KAT6A
(S378*)
Single nucleotide variant
(nonsense)
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
GPathogenic
KAT6A
(K126*)
Single nucleotide variant
(nonsense)
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
GPathogenic
KAT6A
(N1259D)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
KAT6A
(C1587G)
Single nucleotide variant
(missense variant)
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
GUncertain significance
KAT6A
Duplication
(inframe_insertion)
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
GUncertain significance
KAT6A
(Y899C)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
KAT6A
(P85L)
Single nucleotide variant
(missense variant)
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
GUncertain significance
KAT6A
(Q1621*)
Single nucleotide variant
(nonsense)
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
GLikely pathogenic
KAT6A
(E1307fs)
Microsatellite
(frameshift variant)
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
GLikely pathogenic
KAT6A
(N1708fs)
Deletion
(frameshift variant)
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
GLikely pathogenic
KAT6A
(S712N)
Single nucleotide variant
(missense variant)
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
GUncertain significance
KAT6A
(R438*)
Single nucleotide variant
(nonsense)
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
GPathogenic
KAT6A
(Q1467fs)
Deletion
(frameshift variant)
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
GPathogenic
KAT6A
(R948*)
Single nucleotide variant
(nonsense)
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
GLikely pathogenic
KAT6A
(R469*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
KAT6A
(R251Q)
Single nucleotide variant
(missense variant)
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
+1 more
GUncertain significance
KAT6A
(L1088F)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
KAT6A
(R971C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
KAT6A
Deletion
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
GPathogenic
KAT6A
(Y383fs)
Insertion
(frameshift variant)
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
GPathogenic
KAT6A
(M1533T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
KAT6A
(N821fs)
Deletion
(frameshift variant)
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
GPathogenic
KAT6A
(H1767D)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
KAT6A
(P1736L)
Single nucleotide variant
(missense variant)
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
GUncertain significance
KAT6A
(P1654T)
Single nucleotide variant
(missense variant)
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
GUncertain significance
KAT6A
(P1482L)
Single nucleotide variant
(missense variant)
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
GUncertain significance
KAT6A
(S1260G)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
KAT6A
(P997S)
Single nucleotide variant
(missense variant)
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
GUncertain significance
KAT6A
(G983C)
Single nucleotide variant
(missense variant)
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
GUncertain significance
KAT6A
(G931R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
KAT6A
(L1450fs)
Microsatellite
(frameshift variant)
not provided
GPathogenic
KAT6A
(K636fs)
Deletion
(frameshift variant)
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
GLikely pathogenic
KAT6A
Single nucleotide variant
(splice donor variant)
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
GPathogenic
KAT6A
(Q1649*)
Single nucleotide variant
(nonsense)
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
GPathogenic
KAT6A
(Q1357fs)
Deletion
(frameshift variant)
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
GLikely pathogenic
KAT6A
(S1555N)
Single nucleotide variant
(missense variant)
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
GLikely pathogenic
KAT6A
(R256W)
Single nucleotide variant
(missense variant)
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
GUncertain significance
KAT6A
(R1012*)
Single nucleotide variant
(nonsense)
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
GPathogenic
KAT6A
(R740fs)
Deletion
(frameshift variant)
KAT6A syndrome
+1 more
GPathogenic/Likely pathogenic
KAT6A
(N1912K)
Single nucleotide variant
(missense variant)
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
Gnot provided
KAT6A
(K1103fs)
Deletion
(frameshift variant)
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
GPathogenic
KAT6A
(E1107fs)
Insertion
(frameshift variant)
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
GPathogenic
KAT6A
(R1926G)
Single nucleotide variant
(missense variant)
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
+1 more
GConflicting classifications of pathogenicity
KAT6A
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign/Likely benign
KAT6A
Single nucleotide variant
(intron variant)
Inborn genetic diseases
+2 more
GBenign/Likely benign
KAT6A
Deletion
(splice acceptor variant)
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
GPathogenic
KAT6A
(H1854Y)
Single nucleotide variant
(missense variant)
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
GUncertain significance
KAT6A
(T298I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
KAT6A
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
KAT6A
(R269*)
Single nucleotide variant
(nonsense)
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
+1 more
GPathogenic
KAT6A
(R220*)
Single nucleotide variant
(nonsense)
Inborn genetic diseases
+2 more
GPathogenic/Likely pathogenic
KAT6A
Deletion
(splice donor variant)
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
GPathogenic
KAT6A
(V1347fs)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic/Likely pathogenic
KAT6A
(R286*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
KAT6A
Deletion
(inframe_deletion)
Inborn genetic diseases
+3 more
GBenign/Likely benign
KAT6A
(S1597del)
Microsatellite
(inframe_deletion)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
KAT6A
Single nucleotide variant
(synonymous variant)
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
+2 more
GBenign/Likely benign
KAT6A
(G1199fs)
Deletion
(frameshift variant)
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
GLikely pathogenic
KAT6A
Deletion
(nonsense)
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
GLikely pathogenic
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