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Links from Gene

Items: 53

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ZNF30
(D32Y)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF30
(R141I +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF30
(G553R +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF30
(R441C +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ALKBH6, APLP1
+63 more
Copy number loss
not provided
GPathogenic
ZNF30
(W28R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF30
(R250W +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF30
(G235R +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF30
(G12R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF30
(F108S +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF30
(T93K +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF30
(D80V +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF30
(T563N +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF30
(A520P +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF30
(R476W +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF30
(N46K)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SLC7A9, SNRPA
+215 more
Copy number gain
not specified
GPathogenic
ALKBH6, APLP1
+72 more
Deletion
not provided
GPathogenic
ZNF30
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ZNF30
(G12E)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
ZNF30
(I214V +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF30
(C321R +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF30
(H446R +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF30
(K371T +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF30
(H418Y +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF30
(T271I +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF30
(H360R +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF30
(S609T +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ALKBH6, APLP1
+83 more
Duplication
Hereditary spastic paraplegia 75
GUncertain significance
ZNF30
(R308I +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF30
(E290K +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF30
(R120C +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF30
(C347Y +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF30
(D92N +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF30
(C84W +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF30
(R588Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF30
(G574R +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF30
(H562D +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF30
(E460K +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF30
(I165R +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF30
(I165L +1 more)
Single nucleotide variant
(missense variant +1 more)
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
ARHGAP33, ATP4A
+44 more
Copy number loss
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
ANKRD27, ATP4A
+58 more
Copy number gain
See cases
GPathogenic
ANKRD27, CD22
+193 more
Copy number loss
See cases
GPathogenic
ALKBH6, ANKRD27
+439 more
Copy number loss
See cases
GPathogenic
ALKBH6, ANKRD27
+459 more
Copy number loss
See cases
GPathogenic
ABHD8, ACP5
+2135 more
Copy number gain
See cases
GPathogenic
LOC130064154, LOC130064155
+625 more
Copy number gain
See cases
GPathogenic
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