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Items: 47

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
LOC126862899, ZNF345
+1 more
(R420C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC126862899, ZNF345
+1 more
(K387N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC126862899, ZNF345
+1 more
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LOC126862899, ZNF345
+1 more
(T375I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC126862899, ZNF345
+1 more
(R439K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC126862899, ZNF345
+1 more
(Y352N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC126862899, ZNF345
+1 more
(H423R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC126862899, ZNF345
+1 more
(K412N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC126862899, ZNF345
+1 more
(P295L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC126862899, ZNF345
+1 more
(S280N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC126862899, ZNF345
+1 more
(C333R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC126862899, ZNF345
+1 more
(C245Y +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC126862899, ZNF345
+1 more
(S224G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC126862899, ZNF345
+1 more
(G196R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC126862899, ZNF345
+1 more
(R195H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC126862899, ZNF345
+1 more
(C161W +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC126862899, ZNF345
+1 more
(R212H +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
LOC126862899, ZNF345
+1 more
(R212C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF829
(I42T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF829
(S4F +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF829
(L72F)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GLikely benign
ZNF829
(S67G)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
ZNF829
(S56C)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
ZNF829
(T55A)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
ZNF829
(G29S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF829
(G23E)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF829
(G20V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF829
(G15R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF829
(R13Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF829
(D12H)
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
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
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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