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Items: 57

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
ZNF568
(S11I)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF568
(H20R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF568
(M21K)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF568
(P44T)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
ZNF568
(Q59R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF568
(D95Y +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF568
(S140C +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF568
(E205D +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF568
(G144R +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF568
(G207A +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF568
(V154I +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF568
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
ZNF568
(H268Y +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF568
(Y277C +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF568
(I322T +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF568
(R326Q +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF568
(C367G +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF568
(G304C +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF568
(F335L +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF568
(C419W +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF568
(V371I +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF568
(P472T +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF568
(T497M +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF568
(V442I +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF568
(F447C +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF568
(S451P +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF568
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ZNF568
(P557L +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF568
(C527Y +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF568
(S543T +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF568
(G638V +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF568
(P208A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF568
(E170A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF568
(S266F +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF568
(Q212H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF568
(C333Y +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF568
(C484R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF568
(Y563H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF568
(S612G +1 more)
Single nucleotide variant
(missense variant)
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
SIPA1L3, WDR87
+17 more
Copy number gain
not provided
GUncertain significance
ZNF260, ZNF345
+12 more
Copy number loss
not specified
GUncertain significance
ACP7, ACTMAP
+255 more
Copy number gain
Specific learning disability
GPathogenic
ZNF829, ZNF345
+2 more
Copy number loss
not provided
GLikely benign
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
ZNF383, ZNF420
+3 more
Copy number loss
See cases
GUncertain significance
ZNF345, ZNF568
+1 more
Copy number loss
See cases
GLikely benign
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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