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Items: 31

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
ZNF274
(A8T)
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
GUncertain significance
ZNF274
(E26K)
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
GUncertain significance
ZNF274
(S52L +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF274
(E26D +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF274
(P100A +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF274
(I108T +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF274
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ZNF274
(K287T +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF274
(N370K +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF274
(N319D +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF274
(V451G +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF132, A1BG
+8 more
Copy number gain
not provided
GUncertain significance
ZNF329, ZNF274
Copy number loss
not provided
GUncertain significance
ZNF548, ZNF549
+157 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
A1BG, AURKC
+64 more
Copy number gain
See cases
GUncertain significance
ZNF274, ZNF544
Copy number gain
See cases
GUncertain significance
A1BG, ACP4
+280 more
Copy number gain
See cases
GPathogenic
ZNF329, ZNF135
+14 more
Copy number gain
See cases
GUncertain significance
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