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Links from Gene

Items: 1 to 100 of 128

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ZNF786
(G292W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF786
(G421R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF786
(R250H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF786
(R613S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF786
(D272H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF786
(W231R)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
ZNF786
(G164E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF786
(K739N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF786
(R72G)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
ZNF786
(C651S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF786
(S650F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF786
(S650C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF786
(D635Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF786
(P624L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF786
(C570Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF786
(G505E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF786
(C455G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF786
(L45F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF786
(H419Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF786
(T392P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF786
(M380I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABCB8, ABCF2
+125 more
Copy number gain
See cases
GPathogenic
ABCB8, ABCF2
+165 more
Copy number gain
not specified
GPathogenic
TMEM176B, ZNF425
+49 more
Copy number loss
not provided
GPathogenic
INSIG1, PDIA4
+80 more
Copy number loss
not provided
GPathogenic
C7orf33, CNTNAP2
+18 more
Copy number loss
not provided
GUncertain significance
CLCN1, RHEB
+123 more
Copy number loss
not provided
GPathogenic
ARHGEF35, KEL
+169 more
Copy number loss
not provided
GPathogenic
ZNF786
(L281V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF786
(P132S)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
ZNF786
(C196R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF786
(H187R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF786
(D736E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF786
(G517S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NDUFB2, NOBOX
+125 more
Copy number loss
not provided
GPathogenic
LOC129999716, LOC129999717
+847 more
Copy number gain
Neurodevelopmental disorder
GLikely pathogenic
EPHA1-AS1, EPHB6
+888 more
Copy number gain
Neurodevelopmental disorder
GPathogenic
ZNF786
(A638V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF786
(H279Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF786
(F277C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF786
(E20K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF786
(P323Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF786
(E280Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF786
(C122Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CTAGE6, CTAGE8
+141 more
Deletion
not provided
GPathogenic
ZNF786
(Q348R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF786
(L161I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF786
(H660Q)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
ZNF786
(P295S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF786
(R473W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF786
(K662E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF786
(R410P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF786
(G266C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF786
(E366Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF786
(T441A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF786
(M87T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF786
(L580P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF786
(D272E)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
ZNF786
(G533R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF786
(G64R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF786
(S232G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF786
(W231G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF786
(M380V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF786
(H503N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF786
(T755A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF786
(R547H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF786
(G350E)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
ZNF786
(M647I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF786
(R631C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF786
(G243D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF786
(G273S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF786
(P174L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF786
(A296T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF786
(M647I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF786
(S120R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF786
(Q772E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RAB19, RNY1
+123 more
Copy number loss
not provided
GPathogenic
AASS, ABCA13
+896 more
Copy number loss
See cases
GUncertain significance
CACNA2D1, CADPS2
+896 more
Complex
Ring chromosome 7
GPathogenic
CUL1, DNAJB6
+80 more
Copy number gain
not provided
GPathogenic
ABCB8, ABCF2
+186 more
Copy number gain
not provided
GPathogenic
ACTR3C, ABCB8
+75 more
Copy number gain
not provided
GPathogenic
ABCB8, ABCF2
+72 more
Copy number loss
not provided
GPathogenic
ABCB8, ABCF2
+96 more
Copy number gain
not provided
Gnot provided
ATP6V0E2, C7orf33
+20 more
Copy number loss
not provided
Gnot provided
ABCB8, ABCF2
+190 more
Copy number loss
See cases
GPathogenic
NOM1, NOS3
+80 more
Copy number loss
not provided
GPathogenic
CHRM2, KRBA1
+295 more
Copy number gain
not provided
GPathogenic
OR2A25, OR2A42
+192 more
Copy number gain
not provided
GPathogenic
PRSS1, PRSS37
+896 more
Copy number gain
not provided
GPathogenic
ATP6V0E2, C7orf33
+20 more
Duplication
not provided
Gnot provided
ABCB8, ABCF2
+229 more
Copy number gain
not provided
GPathogenic
AASS, ABCB8
+436 more
Copy number gain
not provided
GPathogenic
ABCB8, ABCF2
+143 more
Copy number loss
not provided
GPathogenic
ABCB8, ABCF2
+162 more
Copy number loss
See cases
GPathogenic
AVL9, AZGP1
+896 more
Copy number gain
See cases
GPathogenic
MCM7, MDFIC
+896 more
Copy number gain
See cases
GPathogenic
ABCB8, ABCF2
+138 more
Copy number loss
See cases
GPathogenic
ABCB8, ACTR3C
+46 more
Copy number gain
See cases
GUncertain significance
DGKI, DNAJB6
+166 more
Copy number gain
See cases
GPathogenic
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