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Items: 92

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ILRUN-AS1, IP6K3
+2582 more
Copy number gain
See cases
GPathogenic
BRPF3
(R6Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BRPF3
(R9Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BRPF3
(P20L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BRPF3
(R51H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BRPF3
(K98N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BRPF3
(E101K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BRPF3
(H106R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BRPF3
(L133R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BRPF3
(V152I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BRPF3
(M166I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BRPF3
(E169G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BRPF3
(V188I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BRPF3
(R190Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BRPF3
(R200H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BRPF3
(S226N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BRPF3
(V246I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BRPF3
(N274S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BRPF3
(S283G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BRPF3
(A319T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BRPF3
(S369C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BRPF3
(A385D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BRPF3
(Q431R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BRPF3
(V437G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BRPF3
(K449Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BRPF3
(D466H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BRPF3
(P468T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BRPF3
(P472S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BRPF3
(R514Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BRPF3
(P518A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BRPF3
(N532S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BRPF3
(E548V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BRPF3
(R561W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BRPF3
(A562fs)
Deletion
(frameshift variant)
not provided
GUncertain significance
BRPF3
(R577Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BRPF3
(K608R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BRPF3
(I630V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BRPF3
(K632N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BRPF3
(R641Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BRPF3
(R649C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BRPF3
(L660F)
Single nucleotide variant
(missense variant)
Cranial asymmetry
+3 more
GUncertain significance
BRPF3
(M666T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BRPF3
(R677Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BRPF3
(L685P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BRPF3
(G687R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BRPF3
(A693T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BRPF3
(T765I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BRPF3
(N776S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BRPF3
(P788S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BRPF3
(A811G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BRPF3
(P835L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BRPF3
(T841P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BRPF3
(S852F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BRPF3
(P854T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BRPF3
(E855G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BRPF3
(R897S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BRPF3
(G917S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BRPF3
(R946S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BRPF3
(A961D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BRPF3
(R970C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BRPF3
(S980T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BRPF3
(E985K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BRPF3
(G997A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BRPF3
(E1007K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BRPF3
(G1017S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BRPF3
(S1019G)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
BRPF3
(A1026V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BRPF3
(G1050D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BRPF3
(G1053E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BRPF3
(N1058D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BRPF3
(N1058S)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
BRPF3
(G1072R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BRPF3
(R1085G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
BRPF3
(I1094V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BRPF3
(D1096N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BRPF3
(N1107S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BRPF3
(P1115L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BRPF3
(Q1124E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BRPF3
(Q1126R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BRPF3
(V1162M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BRPF3
(S1174G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BRPF3
(M1187I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BRPF3
(I1188S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BRPF3, BNIP5
+18 more
Deletion
not provided
GPathogenic
BNIP5, APOBEC2
+67 more
Copy number loss
not provided
GPathogenic
ARMC12, BRPF3
+94 more
Duplication
not provided
GUncertain significance
ABHD16A, AGER
+172 more
Duplication
Proteasome-associated autoinflammatory syndrome 1
GUncertain significance
ANKS1A, ARMC12
+49 more
Copy number loss
Severe intrauterine growth retardation
GPathogenic
ERVH-3, ETV7
+427 more
Copy number gain
not provided
GPathogenic
UHRF1BP1, SRSF3
+34 more
Copy number gain
not provided
GLikely pathogenic
AARS2, ABCC10
+1028 more
Copy number gain
See cases
GPathogenic
RING1, RIOK1
+1028 more
Copy number gain
See cases
GPathogenic
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