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Items: 1 to 100 of 120

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
ATP12A, C1QTNF9
+181 more
Copy number loss
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
ATP12A, CENPJ
+16 more
Copy number gain
See cases
GUncertain significance
AMER2, ATP12A
+32 more
Copy number gain
See cases
GUncertain significance
ATP12A, LOC130009399
Single nucleotide variant
(splice donor variant)
not provided
GUncertain significance
ATP12A
(Y31C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATP12A
(L61F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATP12A
(G77C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATP12A
(S80N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATP12A
(T101M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATP12A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ATP12A
(I205V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATP12A
(I205F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATP12A
(E207D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATP12A
(S222Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATP12A
(V228A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATP12A
(E245K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATP12A
(T263M)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ATP12A
Single nucleotide variant
(splice acceptor variant +1 more)
not provided
GBenign
ATP12A
(G277S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATP12A
(D278E +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATP12A
(R279H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATP12A
(S293L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATP12A
(V292I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATP12A
(E295K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATP12A
(I317V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATP12A
(A325T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATP12A
(A373V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATP12A
(G383S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATP12A
(L396P +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATP12A
(M407I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATP12A
(A434S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATP12A, LOC126861708
(D465H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATP12A
(L511F +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATP12A
(L511P +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATP12A
(C533Y +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATP12A
(G568R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATP12A
(E565K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATP12A
(R566C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATP12A
(V567G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATP12A
(E579K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATP12A
(D595E +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATP12A
(P594L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATP12A
(R617Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATP12A
(V620M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATP12A
(A617T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATP12A
(K626R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATP12A
(G639S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATP12A
(G639A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATP12A
(L669F +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATP12A
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
ATP12A
(K676E +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATP12A
(R707W +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATP12A
(R713Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATP12A
(I721V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATP12A
(D724V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATP12A
(I751M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATP12A
(D768N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATP12A
(V780I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATP12A
(R787C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATP12A
(M881T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATP12A
(V887L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATP12A
(V887I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATP12A
(R902H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATP12A
Single nucleotide variant
(synonymous variant)
not provided
GBenign/Likely benign
ATP12A, LOC126861709
(Q925K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATP12A, LOC126861709
(T935A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATP12A, LOC126861709
(T935M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATP12A, LOC126861709
(I957N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATP12A, LOC126861709
(G987D +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATP12A, LOC126861709
(S985F +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATP12A, LOC126861709
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
ATP12A
(A1007S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATP12A
(A1011T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATP12A
(V1022M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDX2, AMER2
+82 more
Copy number gain
not provided
GUncertain significance
AMER2, ATP12A
+33 more
Copy number gain
not specified
GUncertain significance
AMER2, ATP12A
+12 more
Deletion
not provided
GPathogenic
ATP12A, C1QTNF9
+2 more
Copy number gain
not provided
GUncertain significance
B3GLCT, HS6ST3
+332 more
Copy number gain
not provided
GPathogenic
ABCC4, ABHD13
+332 more
Copy number gain
Complete trisomy 13 syndrome
GPathogenic
AMER2, ATP12A
+4 more
Copy number gain
not specified
GUncertain significance
ABCC4, ABHD13
+332 more
Copy number gain
not specified
GPathogenic
VPS36, VWA8
+329 more
Copy number gain
not specified
GPathogenic
ATP12A, C1QTNF9
+10 more
Copy number gain
not provided
GUncertain significance
ABCC4, ABHD13
+332 more
Copy number gain
not provided
GPathogenic
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