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Items: 1 to 100 of 182

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126860438, LOC126860439
+3663 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+3663 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+3661 more
Copy number gain
See cases
GPathogenic
LOC105379224, LOC105379230
+3657 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+3661 more
Copy number gain
See cases
GPathogenic
LOC129999966, LOC129999967
+3111 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+1691 more
Copy number gain
See cases
GPathogenic
LOC126860535, LOC126860536
+1687 more
Copy number gain
See cases
GPathogenic
LOC105375713, LOC105375742
+1553 more
Copy number gain
See cases
GPathogenic
LOC130001109, LOC130001110
+1532 more
Copy number gain
See cases
GPathogenic
LOC130001226, LOC130001227
+1407 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+1330 more
Copy number gain
See cases
GPathogenic
LOC130000987, LOC130000988
+1205 more
Copy number gain
See cases
GPathogenic
LOC130001173, LOC130001174
+1068 more
Copy number gain
See cases
GPathogenic
LOC130001070, LOC130001071
+962 more
Copy number gain
See cases
GPathogenic
ADCK5, ADCY8
+746 more
Copy number gain
See cases
GPathogenic
LOC130001144, LOC130001145
+745 more
Copy number gain
See cases
GPathogenic
ADCK5, ADCY8
+567 more
Copy number gain
See cases
GPathogenic
EPPK1, ERICD
+499 more
Copy number gain
See cases
GPathogenic
TOP1MT, TRAPPC9
+373 more
Copy number gain
See cases
GLikely pathogenic
ADCK5, ADGRB1
+375 more
Copy number gain
See cases
GLikely pathogenic
ADGRB1, ARC
+172 more
Copy number loss
See cases
GPathogenic
ADGRB1, ARC
+140 more
Copy number loss
See cases
GPathogenic
BOP1, CCDC166
+87 more
Copy number loss
See cases
GPathogenic
PARP10
(T1025S +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PARP10
(S1028T +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PARP10
(E1005K +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
PARP10
(F988V +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PARP10
(P997T +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PARP10
(D992E +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PARP10
(D992G +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PARP10
(A978V +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PARP10
(D976H +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PARP10
(A942V +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PARP10
(N948K +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PARP10
(P935R +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PARP10
(S927L +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC130001354, PARP10
(T912K +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC130001354, PARP10
(C919S +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC130001354, PARP10
(T890M +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PARP10
(Q862E +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PARP10
(L872P +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PARP10
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
PARP10
(R847Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
PARP10
(R835W +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PARP10
(E829D +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
PARP10
(G828E +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PARP10
(G828R +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PARP10
(E821K +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PARP10
(G827R +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PARP10
(T824M +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PARP10
(A798V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PARP10
(R783H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PARP10
(R756W +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PARP10
(R765H +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PARP10
(R751L +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PARP10
(R751H +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
PARP10
(R751C +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
PARP10
(R744C +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PARP10
(R743S +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PARP10
(R724Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
PARP10
(G701E +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PARP10
(G701W +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PARP10
(P691A +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PARP10
(R692Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
PARP10
(E665Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PARP10
(R662Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PARP10
(R662W +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PARP10
(L670V +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PARP10
(P647L +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PARP10
(G609R +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PARP10
(D593E +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PARP10
(T579N +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PARP10
(L582F +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PARP10
(V561M +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PARP10
(L554V +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PARP10
(T553M +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PARP10
(A533S +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PARP10
(A533T +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PARP10
(S509G +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PARP10
(R502Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GLikely benign
PARP10
(E499G +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PARP10
(A504T +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
PARP10
(Q491E +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PARP10
(R486W +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PARP10
(P480R +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PARP10
(P492L +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PARP10
(Q440E +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PARP10
(Q410H +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PARP10
(V394M +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PARP10
(G323D +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PARP10
(I319F +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PARP10
(Q315P +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PARP10
(G314E +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PARP10
(T280A +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
PARP10
(L289F +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PARP10
(T285I +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PARP10
(Q268E +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PARP10
(E251K +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PARP10
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
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