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Items: 1 to 100 of 103

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
LINC01674, LIPI
+14 more
Copy number gain
See cases
GUncertain significance
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
LIPI, LOC130066430
+3 more
Copy number gain
See cases
GUncertain significance
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
LOC130066432, RBM11
(F2L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC130066432, RBM11
(Q5E)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RBM11
(Y84C)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RBM11
(R85Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RBM11
(R90C)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RBM11
(K104E)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RBM11
(E114D)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RBM11
(G118S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RBM11
(I129V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RBM11
(N131T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RBM11
(T132S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RBM11
(E137G)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RBM11
(S179Y +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RBM11
(K195E +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
RBM11
(H191R +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RBM11
(L199I +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RBM11
(Q208R +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RBM11
(A204P +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RBM11
(P220L +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RBM11
(G232R +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RBM11
(R247Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RBM11
(Q250R +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RBM11
(C268Y +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
HSPA13, LIPI
+3 more
Duplication
not provided
GUncertain significance
ABCG1, ADAMTS1
+216 more
Copy number gain
not provided
GPathogenic
HSPA13, LIPI
+3 more
Copy number loss
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
CLDN14, CLDN17
+170 more
Copy number gain
not provided
GPathogenic
HSPA13, LIPI
+3 more
Duplication
not provided
GUncertain significance
LIPI, RBM11
Copy number gain
not provided
GUncertain significance
HSPA13, LIPI
+4 more
Copy number gain
not provided
GUncertain significance
MIRLET7C, NRIP1
+13 more
Copy number loss
not provided
GUncertain significance
ADAMTS1, MIR125B2
+23 more
Copy number gain
See cases
GPathogenic
ABCG1, ADAMTS1
+217 more
Copy number gain
Down syndrome
GPathogenic
ADAMTS1, ADAMTS5
+216 more
Copy number gain
not specified
GPathogenic
KCNJ15, N6AMT1
+216 more
Copy number gain
not specified
GPathogenic
MRPL39, NCAM2
+23 more
Copy number gain
not specified
GPathogenic
APP, ATP5PF
+20 more
Copy number gain
not specified
GPathogenic
BTG3, C21orf91
+14 more
Copy number gain
not specified
GPathogenic
ABCG1, ADAMTS1
+217 more
Copy number gain
not provided
GPathogenic
COL6A2, KRTAP20-3
+220 more
Copy number gain
See cases
GPathogenic
ABCG1, ADAMTS1
+217 more
Copy number gain
See cases
GPathogenic
ADAMTS1, ADAMTS5
+23 more
Copy number loss
not provided
GPathogenic
BTG3, C21orf91
+14 more
Copy number loss
not provided
GPathogenic
RBM11, LIPI
+1 more
Copy number gain
not provided
GUncertain significance
ATP5PF, IL10RB
+217 more
Copy number gain
not provided
GPathogenic
ADAMTS1, ADAMTS5
+23 more
Duplication
Neurodevelopmental disorder
GLikely pathogenic
HSPA13, SAMSN1
+17 more
Copy number gain
not provided
GPathogenic
BTG3, C21orf91
+14 more
Copy number loss
not provided
GPathogenic
ABCG1, ADAMTS1
+217 more
Copy number gain
See cases
GPathogenic
HSPA13, LIPI
+4 more
Copy number gain
See cases
GUncertain significance
ADAMTS1, ADAMTS5
+23 more
Copy number loss
See cases
GPathogenic
BTG3, C21orf91
+14 more
Copy number gain
See cases
GUncertain significance
CXADR, HSPA13
+12 more
Copy number gain
See cases
GPathogenic
EVA1C, FAM3B
+217 more
Copy number gain
See cases
GPathogenic
ABCG1, ADAMTS1
+216 more
Copy number loss
See cases
GPathogenic
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