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Items: 49

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130064925, LOC130064926
+1081 more
Copy number gain
See cases
GPathogenic
LOC130064903, LOC130064904
+1093 more
Copy number gain
See cases
GPathogenic
LOC130065082, LOC130065083
+806 more
Copy number gain
See cases
GPathogenic
OSCAR, PEG3
+782 more
Copy number gain
See cases
GPathogenic
LOC130065034, LOC130065035
+761 more
Copy number gain
See cases
GPathogenic
A1BG, A1BG-AS1
+647 more
Copy number gain
See cases
GPathogenic
A1BG, A1BG-AS1
+547 more
Copy number gain
See cases
GPathogenic
SSC5D, SYT5
+553 more
Copy number gain
See cases
GPathogenic
TMC4, TMEM150B
+537 more
Copy number gain
See cases
GPathogenic
A1BG, A1BG-AS1
+179 more
Copy number gain
See cases
GUncertain significance
A1BG, A1BG-AS1
+215 more
Copy number gain
See cases
GPathogenic
LOC125384550, LOC126862946
+37 more
Copy number gain
See cases
GUncertain significance
LOC125384550, LOC126862947
+20 more
Copy number gain
See cases
GUncertain significance
LOC125384550, LOC126862947
+23 more
Copy number gain
See cases
GLikely benign
ZNF586
(A4S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF586
(A4V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF586
(M44L +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
ZNF586
(I51M +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF586
(T28M +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF586
(I30T +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF586
(I32T)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
ZNF586
(R73C +1 more)
Single nucleotide variant
(synonymous variant +1 more)
not specified
GUncertain significance
ZNF586
(A74T +2 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
ZNF586
(F88L +1 more)
Single nucleotide variant
(synonymous variant +1 more)
not specified
GUncertain significance
ZNF586
(F101S)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
ZNF586
(S125C +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF586
(T170I +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF586
(G134S +2 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
ZNF586
(I138V +1 more)
Single nucleotide variant
(synonymous variant +1 more)
not specified
GUncertain significance
ZNF586
(S219F +1 more)
Single nucleotide variant
(synonymous variant +1 more)
not specified
GUncertain significance
ZNF586
(V265I +1 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
ZNF586
(R230Q +1 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
ZNF586
(V283G +1 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
ZNF586
(R288K +1 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
ZNF586
(L258V +1 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
ZNF586
(G298R +1 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
ZNF586
(C307S +1 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
ZNF586
(K352R +1 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
ZNF154, ZNF417
+10 more
Copy number gain
not provided
GUncertain significance
ZIK1, ZNF134
+16 more
Copy number gain
not provided
GUncertain significance
C19orf18, ZIK1
+21 more
Copy number gain
not provided
GUncertain significance
ZIK1, ZNF134
+14 more
Copy number gain
not provided
GUncertain significance
C19orf18, VN1R1
+29 more
Copy number gain
not provided
GUncertain significance
ZNF548, ZNF549
+157 more
Copy number gain
not provided
GPathogenic
ZNF814, ZSCAN4
+27 more
Copy number gain
not provided
GLikely benign
PGLYRP1, PGLYRP2
+1364 more
Copy number gain
See cases
GPathogenic
TMC4, TMED1
+1364 more
Copy number gain
See cases
GPathogenic
A1BG, AURKC
+64 more
Copy number gain
See cases
GUncertain significance
A1BG, ACP4
+280 more
Copy number gain
See cases
GPathogenic
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