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Items: 1 to 100 of 1086

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABLIM3, ACSL6
+1672 more
Copy number loss
See cases
GPathogenic
LOC129994992, LOC129994993
+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
PCDHA1, PCDHA2
+1 more
(W24R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHA1, PCDHA2
+1 more
(R32P)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHA1, PCDHA2
+1 more
(G42C)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHA1, PCDHA2
+1 more
(L56M)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHA1, PCDHA2
+1 more
(G72R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHA1, PCDHA2
+1 more
(S103G)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHA1, PCDHA2
+1 more
(H105Y)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHA1, PCDHA2
+1 more
(V110A)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHA1, PCDHA2
+1 more
(V123A)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHA1, PCDHA2
+1 more
(D125V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHA1, PCDHA2
+1 more
(N127K)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHA1, PCDHA2
+1 more
(M135V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHA1, PCDHA2
+1 more
(K138R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHA1, PCDHA2
+1 more
(I140L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHA1, PCDHA2
+1 more
(I140M)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
PCDHA1, PCDHA2
+1 more
(R141W)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHA1, PCDHA2
+1 more
(R141G)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHA1, PCDHA2
+1 more
(F177Y)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHA1, PCDHA2
+1 more
(D181V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHA1, PCDHA2
+1 more
(N209K)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHA1, PCDHA2
+1 more
(D216V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHA1, PCDHA2
+1 more
(L229R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHA1, PCDHA2
+1 more
(A243T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHA1, PCDHA2
+1 more
(N254S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHA1, PCDHA2
+1 more
(V262F)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHA1, PCDHA2
+1 more
(I277T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHA1, PCDHA2
+1 more
(G306E)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHA1, PCDHA2
+1 more
(E312K)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHA1, PCDHA2
+1 more
(S337*)
Single nucleotide variant
(nonsense +1 more)
not provided
GUncertain significance
PCDHA1, PCDHA2
+1 more
(V341G)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHA@, PCDHA1
+1 more
(D342V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHA1, PCDHA2
+1 more
(A370V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHA1, PCDHA2
+1 more
(T373S)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
PCDHA1, PCDHA2
+1 more
(T381K)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHA1, PCDHA2
+1 more
(V393I)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHA1, PCDHA2
+1 more
(G431V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHA1, PCDHA2
+1 more
(E444Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
PCDHA1, PCDHA2
+1 more
(D450E)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHA1, PCDHA2
+1 more
(A454V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHA1, PCDHA2
+1 more
(V477E)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHA1, PCDHA2
+1 more
(V495M)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHA1, PCDHA2
+1 more
(R502C)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHA1, PCDHA2
+1 more
(V510M)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHA1, PCDHA2
+1 more
(G515S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHA1, PCDHA2
+1 more
(Y518H)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHA1, PCDHA2
+1 more
(V535L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHA1, PCDHA2
+1 more
(Q552P)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHA1, PCDHA2
+1 more
(A576S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHA1, PCDHA2
+1 more
(L580V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHA1, PCDHA2
+1 more
(G588R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHA1, PCDHA2
+1 more
(H589N)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHA1, PCDHA2
+1 more
(P621L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHA1, PCDHA2
+1 more
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
PCDHA1, PCDHA2
+1 more
(R623H)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHA1, PCDHA2
+1 more
(T660I)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHA1, PCDHA2
+1 more
(S679T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHA1, PCDHA2
+1 more
(V684M)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHA1, PCDHA2
+1 more
(A686T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHA1, PCDHA2
+1 more
(A687S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHA1, PCDHA2
+1 more
(E690D)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHA1, PCDHA2
+1 more
(V694M)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
PCDHA1, PCDHA2
+1 more
(D695E)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHA2, PCDHA1
+1 more
(I702L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHA1, PCDHA2
+1 more
(I702V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHA1, PCDHA2
+1 more
(V707A)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHA1, PCDHA2
+1 more
(R732L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHA1, PCDHA2
+1 more
(A733E)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHA1, PCDHA2
+1 more
(S751L)
Single nucleotide variant
(missense variant +1 more)
PCDHA2-related disorder
GLikely benign
PCDHA1, PCDHA2
+1 more
(E762K)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHA1, PCDHA2
+1 more
(P765T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHA1, PCDHA2
+1 more
(D781V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHA1, PCDHA2
+1 more
(E784V)
Single nucleotide variant
(intron variant +1 more)
not specified
GUncertain significance
PCDHA1, PCDHA2
+2 more
(D8N)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHA1, PCDHA2
+2 more
(A11G)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHA1, PCDHA2
+2 more
(Q30R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHA1, PCDHA2
+2 more
(K40R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHA1, PCDHA2
+2 more
(P61Q)
Single nucleotide variant
(missense variant +1 more)
PCDHA3-related disorder
GBenign
PCDHA1, PCDHA2
+2 more
(R62L)
Single nucleotide variant
(missense variant +1 more)
PCDHA3-related disorder
GBenign
PCDHA1, PCDHA2
+2 more
Single nucleotide variant
(synonymous variant +1 more)
PCDHA3-related disorder
GLikely benign
PCDHA1, PCDHA2
+2 more
(E101D)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHA1, PCDHA2
+2 more
Single nucleotide variant
(synonymous variant +1 more)
PCDHA3-related disorder
GBenign
PCDHA1, PCDHA2
+2 more
(Q115L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHA1, PCDHA2
+2 more
(V119G)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHA1, PCDHA2
+2 more
(P131S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHA1, PCDHA2
+2 more
Single nucleotide variant
(synonymous variant +1 more)
PCDHA3-related disorder
GBenign
PCDHA1, PCDHA2
+2 more
(E176fs)
Deletion
(frameshift variant +1 more)
PCDHA3-related disorder
GLikely benign
PCDHA1, PCDHA2
+2 more
(L192V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHA1, PCDHA2
+2 more
(L192P)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHA1, PCDHA2
+2 more
(V195L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHA1, PCDHA2
+2 more
(R202L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHA1, PCDHA2
+2 more
(D216E)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHA1, PCDHA2
+2 more
(G218R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHA1, PCDHA2
+2 more
Single nucleotide variant
(synonymous variant +1 more)
PCDHA3-related disorder
GLikely benign
PCDHA1, PCDHA2
+2 more
(L251S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCDHA1, PCDHA2
+2 more
(V261A)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
PCDHA1, PCDHA2
+2 more
(V264F)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
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