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Items: 1 to 100 of 547

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABLIM3, ACSL6
+1672 more
Copy number loss
See cases
GPathogenic
LOC129995052, LOC129995053
+1157 more
Copy number gain
See cases
GPathogenic
ABLIM3, ACSL6
+1218 more
Copy number gain
See cases
GPathogenic
ANKHD1, ANKHD1-DT
+377 more
Copy number loss
See cases
GPathogenic
PCDHA5, PCDHA1
+5 more
(A39D)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PCDHA4, PCDHA5
+5 more
(K40T)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PCDHA1, PCDHA@
+5 more
(V60M)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PCDHA1, PCDHA2
+5 more
(D91H)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PCDHA@, PCDHA1
+5 more
(V108M)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PCDHA@, PCDHA6
+5 more
(D111E)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PCDHA4, PCDHA5
+5 more
(V116F)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PCDHA2, PCDHA3
+5 more
(P134R)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PCDHA3, PCDHA4
+5 more
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
PCDHA@, PCDHA1
+5 more
(V162F)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PCDHA6, PCDHA@
+5 more
(I192T)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PCDHA1, PCDHA2
+5 more
(D234G)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PCDHA2, PCDHA3
+5 more
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
PCDHA3, PCDHA5
+5 more
(I251T)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PCDHA4, PCDHA2
+5 more
(I251M)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PCDHA2, PCDHA6
+5 more
(T260A)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PCDHA1, PCDHA2
+5 more
(A286E)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PCDHA@, PCDHA5
+5 more
(N298I)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PCDHA6, PCDHA1
+5 more
(M330K)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PCDHA3, PCDHA4
+5 more
(S354F)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PCDHA1, PCDHA2
+5 more
(R360L)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PCDHA1, PCDHA2
+5 more
(L371R)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PCDHA@, PCDHA1
+5 more
(Q384L)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PCDHA5, PCDHA@
+5 more
(L441F)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PCDHA1, PCDHA2
+5 more
(N451S)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PCDHA1, PCDHA2
+5 more
(V464M)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PCDHA6, PCDHA3
+5 more
(C472R)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PCDHA1, PCDHA2
+5 more
(V510M)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PCDHA5, PCDHA2
+5 more
(A512T)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PCDHA1, PCDHA2
+5 more
(A562E)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PCDHA3, PCDHA1
+5 more
(R569Q)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PCDHA1, PCDHA2
+5 more
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
PCDHA1, PCDHA2
+5 more
(Q589K)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PCDHA4, PCDHA3
+5 more
(A592G)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PCDHA1, PCDHA2
+5 more
(V594M)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PCDHA6, PCDHA@
+5 more
(R595H)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PCDHA1, PCDHA2
+5 more
(A599V)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PCDHA1, PCDHA2
+5 more
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
PCDHA5, PCDHA1
+5 more
(G602S)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PCDHA4, PCDHA2
+5 more
(W606C)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PCDHA2, PCDHA3
+5 more
(R619C)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PCDHA5, PCDHA3
+5 more
(A658V)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PCDHA4, PCDHA5
+5 more
(T664M)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PCDHA1, PCDHA2
+5 more
(G673D)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PCDHA1, PCDHA2
+5 more
(S680T)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PCDHA4, PCDHA5
+5 more
(N697S)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PCDHA1, PCDHA2
+5 more
(S724W)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PCDHA2, PCDHA6
+5 more
(E729K)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PCDHA1, PCDHA2
+5 more
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
PCDHA3, PCDHA@
+5 more
(M770L)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PCDHA1, PCDHA2
+5 more
(A786V)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
PCDHA5, PCDHA3
+6 more
(V2M)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PCDHA1, PCDHA2
+6 more
(R92S)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PCDHA7, PCDHA4
+6 more
(L95V)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PCDHA1, PCDHA2
+6 more
(E111V)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PCDHA1, PCDHA4
+6 more
(P191L)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PCDHA1, PCDHA2
+6 more
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
PCDHA1, PCDHA2
+6 more
(I289M)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PCDHA1, PCDHA2
+6 more
(P319S)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PCDHA2, PCDHA1
+6 more
(L352V)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GLikely benign
PCDHA1, PCDHA@
+6 more
(V368F)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PCDHA6, PCDHA5
+6 more
(F379L)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PCDHA@, PCDHA4
+6 more
(K396N)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PCDHA2, PCDHA@
+6 more
(W436R)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PCDHA1, PCDHA2
+6 more
(V462M)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PCDHA1, PCDHA2
+6 more
(C472R)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
PCDHA1, PCDHA2
+6 more
(C472S)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PCDHA1, PCDHA2
+6 more
(G480R)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GLikely benign
PCDHA3, PCDHA5
+6 more
(V499L)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PCDHA4, PCDHA5
+6 more
(G500S)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PCDHA2, PCDHA7
+6 more
(E501D)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PCDHA1, PCDHA2
+6 more
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
PCDHA1, PCDHA2
+6 more
(D557E)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PCDHA1, PCDHA2
+6 more
(P563L)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PCDHA1, PCDHA6
+6 more
(A567E)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PCDHA@, PCDHA3
+6 more
(G571S)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PCDHA1, PCDHA6
+6 more
(E579D)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PCDHA3, PCDHA2
+6 more
(L580P)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PCDHA2, PCDHA7
+6 more
(A587V)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PCDHA7, PCDHA6
+6 more
(A587E)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PCDHA1, PCDHA2
+6 more
(A642T)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PCDHA5, PCDHA7
+6 more
(L659V)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PCDHA1, PCDHA3
+6 more
(S679W)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PCDHA4, PCDHA7
+6 more
(S680W)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PCDHA@, PCDHA4
+6 more
(A682V)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PCDHA1, PCDHA2
+6 more
(E692V)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PCDHA7, PCDHA2
+6 more
(G730D)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PCDHA6, PCDHA3
+6 more
(C732R)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PCDHA3, PCDHA5
+6 more
(V735L)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PCDHA6, PCDHA7
+6 more
(C759G)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PCDHA7, PCDHA5
+6 more
(S782C)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PCDHA1, PCDHA2
+7 more
(D2N)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
PCDHA1, PCDHA7
+7 more
(L19P)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PCDHA1, PCDHA2
+7 more
(H41Q)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PCDHA1, PCDHA2
+7 more
(A57E)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PCDHA1, PCDHA2
+7 more
(R72G)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GLikely benign
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