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Items: 1 to 100 of 121

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NCAM2, NDUFV3
+1159 more
Copy number gain
See cases
GPathogenic
PDE9A-AS1, PDXK
+1160 more
Copy number gain
See cases
GPathogenic
LOC130066843, LOC130066844
+1160 more
Copy number gain
See cases
GPathogenic
LOC126653343, LOC126653344
+1160 more
Copy number gain
See cases
GPathogenic
AATBC, ABCG1
+1160 more
Copy number gain
See cases
GUncertain significance
LINC00315, LINC00316
+1160 more
Copy number gain
See cases
GPathogenic
ATP5PF, ATP5PO
+1159 more
Copy number gain
See cases
GPathogenic
LOC126653350, LOC126653351
+1159 more
Copy number gain
See cases
GPathogenic
LINC00111, LINC00112
+1160 more
Copy number gain
See cases
GPathogenic
ADAMTS1, ADAMTS5
+643 more
Copy number loss
See cases
GPathogenic
TSPEAR-AS1, TSPEAR-AS2
+1160 more
Copy number gain
See cases
GPathogenic
LOC130066578, LOC130066579
+1159 more
Copy number gain
See cases
GPathogenic
LOC126653316, LOC126653317
+1157 more
Copy number gain
See cases
GPathogenic
LOC130066758, LOC130066759
+1159 more
Copy number gain
See cases
GPathogenic
AATBC, ABCG1
+1159 more
Copy number gain
See cases
GPathogenic
AATBC, ABCG1
+1159 more
Copy number gain
See cases
GPathogenic
LOC130066717, LOC130066718
+1157 more
Copy number gain
See cases
GPathogenic
AATBC, ABCG1
+1157 more
Copy number gain
See cases
GPathogenic
LOC125418051, LOC125418052
+1159 more
Copy number gain
See cases
GPathogenic
ABCG1, ADAMTS1
+884 more
Copy number gain
See cases
GPathogenic
HSF2BP, HSPA13
+1159 more
Copy number gain
See cases
GPathogenic
AATBC, ABCG1
+1159 more
Copy number gain
See cases
GPathogenic
LOC130066756, LOC130066757
+1157 more
Copy number gain
See cases
GPathogenic
AATBC, ABCG1
+1155 more
Copy number gain
See cases
GPathogenic
AATBC, ABCG1
+1155 more
Copy number gain
See cases
GPathogenic
KRTAP12-3, KRTAP12-4
+1157 more
Copy number gain
See cases
GPathogenic
LOC107403153, LOC107548109
+1155 more
Copy number gain
See cases
GPathogenic
SON, SPATC1L
+1159 more
Copy number gain
See cases
GPathogenic
LOC130066735, LOC130066736
+1156 more
Copy number loss
See cases
GPathogenic
LOC126653329, LOC130066449
+219 more
Copy number loss
Monosomy 21
GPathogenic
LOC112694734, LOC116309120
+118 more
Copy number gain
See cases
GPathogenic
ADAMTS1, ADAMTS5
+256 more
Copy number loss
See cases
GPathogenic
ASMER1, BTG3
+107 more
Copy number loss
See cases
GPathogenic
ADAMTS1, ADAMTS5
+214 more
Copy number loss
See cases
GPathogenic
ASMER1, BTG3
+129 more
Copy number gain
See cases
GPathogenic
C21orf91, LOC125387325
+209 more
Copy number loss
Monosomy 21
GPathogenic
ADAMTS1, ADAMTS5
+300 more
Copy number loss
See cases
GPathogenic
ASMER1, BTG3
+101 more
Copy number loss
See cases
GPathogenic
ASMER1, BTG3
+121 more
Copy number loss
See cases
GPathogenic
ASMER1, HSPA13
+69 more
Copy number gain
See cases
GPathogenic
LOC130066445, LOC130066446
+102 more
Copy number loss
See cases
GPathogenic
BTG3, BTG3-AS1
+76 more
Copy number loss
See cases
GPathogenic
LOC130066460, USP25
(S11N)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP25
(Q18R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP25
(T19R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP25
(K145R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP25
(N157K)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP25
(R217W)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP25
(R217Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP25
(R2C +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP25
(V12A +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP25
(E68D +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP25
(E68D +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP25
(N159S +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
USP25
(M184I +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USP25
(T206M +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
USP25
(E30Q +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
USP25
(P39T +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
USP25
(T466I +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
USP25
(S246C +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
USP25
(S293L +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
USP25
(K299R +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
USP25
(S304C +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
USP25
(H534Y +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
USP25
(H135Q +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
USP25
(R150L +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
USP25
(E337K +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
USP25
(I559L +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
USP25
(H203Q +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
USP25
(W388L +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
USP25
(Q443R +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
USP25
(V689A +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
USP25
(A301V +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
USP25
(A314V +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
USP25
(S728F +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
USP25
(P331T +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
USP25
(P773L +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
USP25
(V369L +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
USP25
(Q828E +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
USP25
(C433Y +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
USP25
(A445T +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
USP25
(L493V +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
USP25
(K687N +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
USP25
(H522Y +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
USP25
(H1032Y +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
USP25
(T1038R +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
USP25
(C1015Y +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
USP25
(T1065M +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
USP25
(R638Q +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NRIP1, USP25
Copy number gain
not specified
GUncertain significance
ABCG1, ADAMTS1
+216 more
Copy number gain
not specified
GPathogenic
BTG3, C21orf91
+13 more
Copy number loss
not provided
GUncertain significance
ABCG1, ADAMTS1
+170 more
Copy number gain
not provided
GPathogenic
HSPA13, LIPI
+4 more
Copy number gain
not provided
GUncertain significance
BTG3, C21orf91
+13 more
Copy number loss
not provided
GUncertain significance
MIRLET7C, MRPL39
+23 more
Copy number gain
See cases
GPathogenic
DOP1B, DSCAM
+217 more
Copy number gain
Complete trisomy 21 syndrome
GPathogenic
FAM3B, FTCD
+216 more
Copy number gain
not specified
GPathogenic
KRTAP13-1, KRTAP13-2
+216 more
Copy number gain
not specified
GPathogenic
ADAMTS1, ADAMTS5
+23 more
Copy number gain
not specified
GPathogenic
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