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Items: 1 to 100 of 127

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ATP8A2, ATXN8OS
+2049 more
Copy number loss
See cases
GPathogenic
LOC130009892, LOC130009893
+2050 more
Copy number gain
See cases
GPathogenic
LOC130009819, LOC130009820
+2048 more
Copy number gain
See cases
GPathogenic
LOC130009419, LOC130009420
+567 more
Copy number gain
See cases
GPathogenic
ABCC4, ABHD13
+2045 more
Copy number gain
See cases
GPathogenic
ABCC4, ABHD13
+2046 more
Copy number gain
See cases
GPathogenic
LOC126861730, LOC126861731
+489 more
Copy number gain
See cases
GPathogenic
LOC130009309, LOC130009310
+2041 more
Copy number gain
See cases
GPathogenic
LOC130009490, LOC130009491
+416 more
Copy number gain
See cases
GPathogenic
LOC130009607, LOC130009608
+2029 more
Copy number gain
See cases
GPathogenic
LOC132090185, LOC132090186
+621 more
Copy number gain
See cases
GPathogenic
ABCC4, ABHD13
+2025 more
Copy number gain
See cases
GPathogenic
LOC130009383, LOC130009384
+2022 more
Copy number gain
See cases
GPathogenic
LOC126861859, LOC126861860
+2025 more
Copy number gain
See cases
GPathogenic
LOC112163664, LOC112163665
+2025 more
Copy number gain
See cases
GPathogenic
ALOX5AP, B3GLCT
+203 more
Copy number loss
See cases
GPathogenic
ALG5, ALOX5AP
+211 more
Copy number gain
See cases
GPathogenic
LINC00426, LINC00427
+118 more
Copy number loss
See cases
GPathogenic
ALOX5AP, B3GLCT
+51 more
Copy number loss
Diaphragmatic hernia
GUncertain significance
ALG5, ALOX5AP
+214 more
Copy number loss
See cases
GPathogenic
LOC130009567, LOC130009568
+1005 more
Copy number gain
See cases
GPathogenic
ALOX5AP, HMGB1
+29 more
Copy number loss
See cases
GUncertain significance
USPL1
(D3V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USPL1
(H26Y)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USPL1
(K33E)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USPL1
(V40I)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
USPL1
(R62Q)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
USPL1
(P80R)
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
GUncertain significance
USPL1
(L86R)
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
GUncertain significance
USPL1
(N87K)
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
GUncertain significance
USPL1
(N88K)
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
GUncertain significance
USPL1
(P92A)
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
GUncertain significance
USPL1
(E96D)
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
GLikely benign
USPL1
(I131V)
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
GUncertain significance
USPL1
(N138S)
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
GUncertain significance
USPL1
(G143E)
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
GUncertain significance
USPL1
(V145I)
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
GUncertain significance
USPL1
(R171W)
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
GUncertain significance
USPL1
(R198K +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USPL1
(P199T +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
USPL1
(F40L +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USPL1
(A53V +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USPL1
(S67L +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
USPL1
(G76E +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
USPL1
(I265V +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
USPL1
(I265L +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USPL1
(C112S +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USPL1
(T116S +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USPL1
(M1V +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
USPL1
(L11V +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
USPL1
(H366Q +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
USPL1
(L195V +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
USPL1
(A63S +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
USPL1
(N70H +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
USPL1
(L245V +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
USPL1
(C149Y +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
USPL1
(I313V +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
USPL1
(D325H +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
USPL1
(P369S +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
USPL1
(R229C +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
USPL1
(D570N +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
USPL1
(N253S +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
USPL1
(L259V +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
USPL1
(E409Q +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
USPL1
(V307G +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
USPL1
(V307E +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
USPL1
(N312S +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
USPL1
(S327P +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
USPL1
(T480I +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
USPL1
(A684D +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
USPL1
(V365I +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
USPL1
(F376L +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
USPL1
(R717H +2 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
USPL1
(T782A +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
USPL1
(G792A +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
USPL1
(G468C +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
USPL1
(G622S +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
USPL1
(V482I +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
USPL1
(K484R +2 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
USPL1
(R487H +2 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
USPL1
(H512R +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
USPL1
(H664Y +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
USPL1
(L851V +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
USPL1
(S527T +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
USPL1
(C530W +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
USPL1
(N541H +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
USPL1
(A904P +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
USPL1
(L725F +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
USPL1
(R584G +2 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
USPL1
(R916Q +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
USPL1
(V594L +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
USPL1
(D597V +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
USPL1
(E752D +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
USPL1
(P958A +2 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
USPL1
(V779A +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
USPL1
(T786S +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
USPL1
(A973V +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
USPL1
(V800F +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
USPL1
(E987G +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
USPL1
(E661K +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
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