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Items: 85

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
+256 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
ADAMTS1, ADAMTS5
+56 more
Copy number loss
See cases
GUncertain significance
CCT8, LINC00161
+29 more
Duplication
not specified
GUncertain significance
MAP3K7CL
(Q3P)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
MAP3K7CL
(E9D)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
MAP3K7CL
(E14Q)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
MAP3K7CL
(E14K)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
MAP3K7CL
(E14A)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
MAP3K7CL
(A15E)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
MAP3K7CL
(T84A)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
MAP3K7CL
(M88V)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
MAP3K7CL
(M88L)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
MAP3K7CL
(T100A)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GLikely benign
MAP3K7CL
(D102N)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
MAP3K7CL
(K110R)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
MAP3K7CL
(E117K)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
MAP3K7CL
(S120G)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
MAP3K7CL
(P27T +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MAP3K7CL
(P21A +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MAP3K7CL
(P47A +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MAP3K7CL
(I132F +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MAP3K7CL
(D140E +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MAP3K7CL
(E163D +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MAP3K7CL
(R124W +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MAP3K7CL
(R124Q +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MAP3K7CL
(T105M +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MAP3K7CL
(T135M +5 more)
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
BACH1, MAP3K7CL
Copy number loss
not specified
GUncertain significance
ADAMTS1, ADAMTS5
+14 more
Copy number gain
not provided
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
ABCG1, ADAMTS1
+217 more
Copy number gain
Down syndrome
GPathogenic
CCT8, LTN1
+4 more
Copy number gain
not specified
GUncertain significance
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
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
USP16, MAP3K7CL
+1 more
Copy number loss
not provided
GUncertain significance
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
CCT8, LTN1
+4 more
Copy number loss
See cases
GUncertain significance
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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