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Items: 44

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
ZNF548
(G18S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF548
(L32R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF548
(R34C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF548
(S46L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF548
(N103S +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
ZNF548
(G104E +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF548
(H118N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF548
(P107L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF548
(E189K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF548
(T192N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF548
(F224L +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
ZNF548
(C227G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF548
(H247Y +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF548
(N296S +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
ZNF548
(F296C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF548
(F317L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF548
(C342S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF548
(V381I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF548
(Y376C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF548
(K394R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF548
(E437K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF548
(E478D +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF548
(E501K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF548
(V517G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF548
(I523V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF548, ZNF549
+157 more
Copy number gain
not provided
GPathogenic
ZNF814, ZSCAN4
+27 more
Copy number gain
not provided
GLikely benign
VN1R1, AURKC
+14 more
Copy number loss
not provided
GUncertain significance
ZNF805, ZNF17
+11 more
Duplication
not provided
GUncertain significance
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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