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Items: 69

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
ADAMTS1, ADAMTS5
+300 more
Copy number loss
See cases
GPathogenic
LOC130066520, LOC130066521
+213 more
Copy number loss
See cases
GPathogenic
BACH1, BACH1-IT2
+215 more
Copy number loss
Monosomy 21
GPathogenic
KRTAP11-1
(A144G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KRTAP11-1
(C131S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KRTAP11-1
(V124M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KRTAP11-1
(C111Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KRTAP11-1
(R102W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KRTAP11-1
(C85G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KRTAP11-1
(R72W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KRTAP11-1
(T64S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KRTAP11-1
(C36R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KRTAP11-1
(T28M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABCG1, ADAMTS1
+216 more
Copy number gain
not provided
GPathogenic
ABCG1, ADAMTS1
+216 more
Copy number gain
not specified
GPathogenic
ABCG1, ADAMTS1
+201 more
Copy number gain
not specified
GPathogenic
ABCG1, ADARB1
+186 more
Copy number gain
not specified
GPathogenic
N6AMT1, NCAM2
+52 more
Copy number gain
not provided
GPathogenic
CLDN14, CLDN17
+170 more
Copy number gain
not provided
GPathogenic
LTN1, USP16
+41 more
Copy number gain
not provided
GUncertain significance
KRTAP11-1, KRTAP7-1
+1 more
Copy number loss
not provided
GUncertain significance
ABCG1, ADAMTS1
+217 more
Copy number gain
Down syndrome
GPathogenic
KRTAP20-1, KRTAP20-2
+91 more
Copy number gain
not specified
GPathogenic
KRTAP20-4, KRTAP21-1
+77 more
Copy number loss
not specified
GUncertain significance
ADAMTS1, ADAMTS5
+216 more
Copy number gain
not specified
GPathogenic
KCNJ15, N6AMT1
+216 more
Copy number gain
not specified
GPathogenic
KRTAP20-4, KRTAP21-1
+34 more
Copy number loss
not provided
GUncertain significance
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
KRTAP13-1, KRTAP13-2
+34 more
Copy number loss
not provided
GUncertain significance
CFAP298, EPCIP
+43 more
Copy number loss
not provided
GPathogenic
ADAMTS1, ADAMTS5
+44 more
Copy number loss
not provided
GPathogenic
ATP5PF, IL10RB
+217 more
Copy number gain
not provided
GPathogenic
ABCG1, ADAMTS1
+217 more
Copy number gain
See cases
GPathogenic
CLDN17, CLDN8
+35 more
Copy number loss
See cases
GLikely benign
EVA1C, FAM3B
+217 more
Copy number gain
See cases
GPathogenic
ABCG1, ADAMTS1
+216 more
Copy number loss
See cases
GPathogenic
ABCG1, ADAMTS1
+216 more
Copy number gain
See cases
GPathogenic
ATP5PO, BACH1
+75 more
Copy number loss
See cases
GPathogenic
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