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Items: 1 to 100 of 130

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LCA5L, LINC00111
+1159 more
Copy number gain
See cases
GPathogenic
LOC126653353, LOC126653354
+1160 more
Copy number gain
See cases
GPathogenic
KRTAP8-1, LCA5L
+1160 more
Copy number gain
See cases
GPathogenic
RNA5-8SN1, RNA5-8SN2
+1160 more
Copy number gain
See cases
GPathogenic
LOC130066804, LOC130066805
+1160 more
Copy number gain
See cases
GUncertain significance
AATBC, ABCG1
+1160 more
Copy number gain
See cases
GPathogenic
SCAF4, SETD4
+1159 more
Copy number gain
See cases
GPathogenic
LOC126653353, LOC126653354
+1159 more
Copy number gain
See cases
GPathogenic
LOC129388418, LOC129391214
+1160 more
Copy number gain
See cases
GPathogenic
KCNJ6, KCNJ6-AS1
+643 more
Copy number loss
See cases
GPathogenic
AATBC, ABCG1
+1160 more
Copy number gain
See cases
GPathogenic
AATBC, ABCG1
+1159 more
Copy number gain
See cases
GPathogenic
AATBC, ABCG1
+1157 more
Copy number gain
See cases
GPathogenic
AATBC, ABCG1
+1159 more
Copy number gain
See cases
GPathogenic
LINC00515, LINC00649
+1159 more
Copy number gain
See cases
GPathogenic
LOC130066731, LOC130066732
+1159 more
Copy number gain
See cases
GPathogenic
AATBC, ABCG1
+1157 more
Copy number gain
See cases
GPathogenic
ETS2-AS1, EVA1C
+1157 more
Copy number gain
See cases
GPathogenic
LOC130066726, LOC130066727
+1159 more
Copy number gain
See cases
GPathogenic
LOC128849172, LOC129388418
+884 more
Copy number gain
See cases
GPathogenic
AATBC, ABCG1
+1159 more
Copy number gain
See cases
GPathogenic
SLC5A3, SLX9
+1159 more
Copy number gain
See cases
GPathogenic
LINC01425, LINC01426
+1157 more
Copy number gain
See cases
GPathogenic
LOC130066861, LOC130066862
+1155 more
Copy number gain
See cases
GPathogenic
LOC130066468, LOC130066469
+1155 more
Copy number gain
See cases
GPathogenic
AATBC, ABCG1
+1157 more
Copy number gain
See cases
GPathogenic
AATBC, ABCG1
+1155 more
Copy number gain
See cases
GPathogenic
LOC112694754, LOC114004360
+1159 more
Copy number gain
See cases
GPathogenic
LOC130066795, LOC130066796
+1156 more
Copy number loss
See cases
GPathogenic
LOC125418053, LOC125418054
+219 more
Copy number loss
Monosomy 21
GPathogenic
ASMER1, BTG3
+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
HSPA13, JAM2
+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
LOC130066455, LOC130066456
+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
(H16R)
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
(W52C +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
(N328S +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
(Q160R +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
(I411V +2 more)
Single nucleotide variant
(missense variant)
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
(V192I +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
(Q441R +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
(E1014K +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
ABCG1, ADAMTS1
+216 more
Copy number gain
not provided
GPathogenic
NRIP1, USP25
Copy number gain
not specified
GUncertain significance
ABCG1, ADAMTS1
+216 more
Copy number gain
not specified
GPathogenic
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