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Items: 37

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABHD8, ACP5
+2135 more
Copy number gain
See cases
GPathogenic
ALKBH6, ANKRD27
+459 more
Copy number loss
See cases
GPathogenic
ALKBH6, ANKRD27
+439 more
Copy number loss
See cases
GPathogenic
ZNF567
(M41I +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF567
(E112K +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF567
(N112S +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF567
(S168L +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF567
(T226M +3 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
ZNF567
(G193D +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF567
(R342C +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF567
(V379L +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF567
(R382G +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF567
(R436I +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF567
(T406I +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF567
(A437V +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF567
(G498E +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF567
(Y502C +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF567
(R535C +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF567
(R512H +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF567
(G587E +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF567
(K565N +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF567
(K601T +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF567
(G646D +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SLC7A9, SNRPA
+215 more
Copy number gain
not specified
GPathogenic
ZFP14, ZFP82
+15 more
Copy number loss
not provided
GUncertain significance
ALKBH6, APLP1
+72 more
Deletion
not provided
GPathogenic
ZNF260, ZNF345
+12 more
Copy number loss
not specified
GUncertain significance
ACP7, ACTMAP
+255 more
Copy number gain
Specific learning disability
GPathogenic
ZNF607, ZNF780A
+432 more
Copy number gain
not provided
GPathogenic
ALKBH6, APLP1
+79 more
Copy number loss
Generalized epilepsy with febrile seizures plus, type 1
GPathogenic
PGLYRP1, PGLYRP2
+1364 more
Copy number gain
See cases
GPathogenic
TMC4, TMED1
+1364 more
Copy number gain
See cases
GPathogenic
ALKBH6, APLP1
+39 more
Copy number loss
See cases
GUncertain significance
ZNF345, ZNF461
+3 more
Copy number gain
See cases
GBenign
SIPA1L3, ALKBH6
+41 more
Copy number gain
See cases
GUncertain significance
DPF1, SIPA1L3
+31 more
Copy number loss
Breast ductal adenocarcinoma
GUncertain significance
SIPA1L3, WDR87
+30 more
Complex
Breast ductal adenocarcinoma
GUncertain significance
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