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Items: 1 to 100 of 162

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC132089226, LOC132089227
+1167 more
Copy number gain
See cases
GPathogenic
LOC129995440, LOC129995441
+864 more
Copy number gain
See cases
GPathogenic
ADAMTS2, ARL10
+676 more
Copy number gain
See cases
GPathogenic
LOC129995246, LOC129995247
+622 more
Copy number gain
See cases
GPathogenic
LOC129995359, LOC129995360
+386 more
Copy number loss
See cases
GPathogenic
FAM153A, FAM153B
+176 more
Copy number gain
See cases
GPathogenic
ADAMTS2, ARL10
+292 more
Copy number gain
See cases
GPathogenic
ARL10, B4GALT7
+145 more
Copy number loss
See cases
GPathogenic
ARL10, B4GALT7
+145 more
Copy number loss
See cases
GPathogenic
LOC129995374, LOC129995375
+136 more
Copy number loss
See cases
GPathogenic
ARL10, B4GALT7
+142 more
Copy number loss
See cases
GPathogenic
ARL10, CDHR2
+129 more
Copy number loss
See cases
GPathogenic
ARL10, B4GALT7
+141 more
Copy number loss
See cases
GPathogenic
ARL10, B4GALT7
+137 more
Copy number gain
See cases
GPathogenic
ARL10, B4GALT7
+134 more
Copy number loss
See cases
GPathogenic
ARL10, B4GALT7
+140 more
Copy number loss
See cases
GPathogenic
ARL10, B4GALT7
+172 more
Copy number loss
See cases
GPathogenic
LOC129995352, LOC129995353
+65 more
Copy number loss
Sotos syndrome
GPathogenic
CDHR2, EIF4E1B
+71 more
Duplication
5q35 microduplication syndrome
GPathogenic
B4GALT7, CDHR2
+113 more
Copy number loss
See cases
GPathogenic
ADAMTS2, B4GALT7
+325 more
Copy number loss
See cases
GPathogenic
HK3
(R922H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HK3
(A912T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HK3
(G904S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HK3
(H874Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HK3
(V866M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HK3
(R852Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HK3
(R852W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HK3
(V848M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HK3
(C840R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HK3
(E811G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HK3
(S800N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HK3
(T784A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HK3
(Q783H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HK3
(R781H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HK3
(R775W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HK3
(V772I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HK3
(Y755N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HK3
(G743S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HK3
(A733G)
Single nucleotide variant
(missense variant)
not provided
GBenign
HK3
(R730H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HK3
Single nucleotide variant
(synonymous variant)
not provided
GBenign
HK3
(G722D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HK3
(D720E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HK3
(M713R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HK3
(D705H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HK3
(G704E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HK3
(G704R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HK3
(A700P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HK3
(R697Q)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
HK3
(R697W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HK3
(L696F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HK3
(M693I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HK3
(E679K)
Single nucleotide variant
(missense variant)
Long QT syndrome
GLikely benign
HK3
(P676L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HK3
(G666R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HK3
(A659T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HK3
(S641T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HK3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
HK3
(L622F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HK3
(S609F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HK3
(G605D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HK3
(G599R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HK3
(K594N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HK3
(S576P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HK3
(E570K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HK3
(P569L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HK3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
HK3
(T546M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HK3
(G544R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HK3
(D542N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HK3
(A540V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HK3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
HK3
(L519F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HK3
(R505L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HK3
(R505Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HK3
(M504I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HK3
(A498T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HK3
(R491Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HK3
(P489S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HK3
(R480W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HK3
(V472M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HK3
(A467E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HK3
(R432Q)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
HK3
(R428Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HK3
(C399R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HK3
(A389V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HK3
(A367T)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
HK3
(R364H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HK3
(S343N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HK3
(P339T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HK3
(R328Q)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
HK3
(R328W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HK3
(E307K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HK3
(D291Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HK3
(F290C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HK3
(G281R)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
HK3
(D280A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HK3
(E273D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HK3
(V272I)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
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