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Items: 1 to 100 of 163

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
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
LINC01424, LINC01436
+643 more
Copy number loss
See cases
GPathogenic
AATBC, ABCG1
+598 more
Copy number gain
See cases
GPathogenic
LOC130066759, LOC130066760
+586 more
Copy number gain
See cases
GPathogenic
AATBC, ABCG1
+568 more
Copy number gain
See cases
GPathogenic
ABCG1, B3GALT5
+224 more
Copy number loss
See cases
GPathogenic
AATBC, ABCG1
+516 more
Copy number loss
See cases
GPathogenic
AATBC, ABCG1
+482 more
Copy number loss
See cases
GPathogenic
AATBC, ABCG1
+268 more
Copy number loss
See cases
GPathogenic
AATBC, ABCG1
+429 more
Copy number loss
See cases
GPathogenic
BNAT1, C21orf58
+416 more
Copy number loss
See cases
GPathogenic
ABCG1, C2CD2
+114 more
Copy number gain
See cases
GLikely benign
AATBC, ABCG1
+376 more
Copy number loss
See cases
GPathogenic
LOC130066735, LOC130066736
+340 more
Copy number loss
See cases
GPathogenic
LOC130066806, LOC130066807
+334 more
Copy number loss
See cases
GPathogenic
UBASH3A
(L8I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UBASH3A
(N14K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UBASH3A
(K17R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UBASH3A
(S23L)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
UBASH3A
(L24F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UBASH3A
(P34L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UBASH3A
(T49M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UBASH3A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
UBASH3A
(R93K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UBASH3A
(S95I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UBASH3A
Single nucleotide variant
(synonymous variant)
UBASH3A-related disorder
GLikely benign
UBASH3A
(H105P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UBASH3A
(D121E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UBASH3A
(P143S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UBASH3A
Single nucleotide variant
(synonymous variant)
not provided
GBenign
UBASH3A
(V161I)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
UBASH3A
(R170W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UBASH3A
(M174T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UBASH3A
(A177T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UBASH3A
(V188I)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
UBASH3A
(V215M)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
UBASH3A
(H217Y)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
UBASH3A
(R216K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UBASH3A
(W226R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UBASH3A
(A228T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UBASH3A
(D234A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UBASH3A
(V254M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UBASH3A
(D255E +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UBASH3A
Single nucleotide variant
(synonymous variant)
not provided
GBenign
UBASH3A
Single nucleotide variant
(synonymous variant)
not provided
GBenign
UBASH3A
(E274K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UBASH3A
(V280M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UBASH3A
(L359P +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UBASH3A
(G373R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UBASH3A
Single nucleotide variant
(synonymous variant)
not provided
GBenign
UBASH3A
(G374R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UBASH3A
(R439K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UBASH3A
(R440W +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UBASH3A
(G419S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UBASH3A
(I463F +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
UBASH3A
Single nucleotide variant
(intron variant)
not provided
GBenign
UBASH3A
(R447C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UBASH3A
(K501E +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UBASH3A
(T522I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UBASH3A
(T487I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UBASH3A
(I501V +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
UBASH3A
(I539L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UBASH3A
(A508V +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
UBASH3A
(L511R +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
UBASH3A
(D525E +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
UBASH3A
(R526K +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
UBASH3A
(P539L +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
UBASH3A
(G543S +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
UBASH3A
(T558K +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
UBASH3A
(R597Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
UBASH3A
(G601R +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
UBASH3A
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
UBASH3A
(P603Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
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