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Items: 90

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABHD8, ACP5
+2135 more
Copy number gain
See cases
GPathogenic
LOC130064626, LOC130064627
+215 more
Duplication
Schizophrenia
GLikely pathogenic
LINC03078, LOC284344
+4 more
Deletion
Normal pregnancy
Gnot provided
LOC284344, PSG4
+2 more
Copy number loss
See cases
GBenign
LOC284344, PSG4
+1 more
Copy number loss
See cases
GBenign
LOC284344, PSG4
+1 more
Copy number loss
See cases
GBenign
PSG9
(P326R)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
PSG9
(V413A +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PSG9
(K226E +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PSG9
(M316I +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PSG9
(I312T +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PSG9
(A207D +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PSG9
(G297R +2 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
PSG9
(F287L +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PSG9
(F372L +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PSG9
(T181I +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PSG9
(F272S +2 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
PSG9
(E177G +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PSG9
(D351Y +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PSG9
(R336I +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PSG9
(P332L +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PSG9
(G238R +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PSG9
(N327I +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PSG9
(P323S +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PSG9
(R227L +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PSG9
(Y223D +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PSG9
(R222Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PSG9
(I312T +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PSG9
(S206N +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PSG9
(R195P +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PSG9
(S186N +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PSG9
(A166D +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PSG9
(D256H +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PSG9
(N254K +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PSG9
(N250K +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PSG9
(T245N +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PSG9
(T152I +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PSG9
(I148M +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PSG9
(I148N +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PSG9
(L235F)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PSG9
(P214R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PSG9
(A212E)
Single nucleotide variant
(intron variant +1 more)
not specified
GUncertain significance
PSG9
(K209Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PSG9
(L204I)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PSG9
(Y203F)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PSG9
(K197E)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
PSG9
(L187V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PSG9
(S186N)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PSG9
(Y178C)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PSG9
(S177T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PSG9
(R166L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PSG9
(R166S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PSG9
(A161V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PSG9
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
PSG9
(L142F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PSG9
(I135N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PSG9
(E134Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PSG9
(R127Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PSG9
(R114Q)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
PSG9
(T100I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PSG9
(Y95H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PSG9
(I90T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PSG9
(S81W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PSG9
(M72V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PSG9
(P42L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PSG9
(P42T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PSG9
(A40V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PSG9
(I38T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PSG9
(P30Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PSG9
(P30L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PSG9
(P30A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PSG9
(S23P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PSG9
(W15C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PSG9
(T14P)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
PSG9
(R12H)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
PSG9
(R12C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PSG9
(Q11R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PSG9
(T10R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PSG9
(S8P)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
PSG9
(P5S)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
PSG9
(P3L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PSG9
(P3A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CD177, CEACAM8
+19 more
Copy number gain
not provided
GUncertain significance
CD177, CEACAM8
+19 more
Copy number gain
not specified
GUncertain significance
ZNF607, ZNF780A
+432 more
Copy number gain
not provided
GPathogenic
PGLYRP1, PGLYRP2
+1364 more
Copy number gain
See cases
GPathogenic
TMC4, TMED1
+1364 more
Copy number gain
See cases
GPathogenic
CD177, CEACAM1
+16 more
Copy number gain
See cases
GUncertain significance
APOC1, APOC2
+120 more
Copy number loss
See cases
GPathogenic
PSG1, PSG11
+6 more
Deletion
Gestational diabetes mellitus uncontrolled
Gnot provided
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