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Links from Gene

Items: 38

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ZNF830
(E233A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF830
(A2S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC130060706, ZNF830
(P10L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF830
(D359Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF830
(S181T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCT6B, FNDC8
+7 more
Duplication
not provided
GUncertain significance
ZNF830
(R322W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF830
(S127C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF830
(P106L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC130060706, ZNF830
(S62N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF830
(E347D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF830
(S193L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF830
(V101I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF830
(K190R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF830
(G178E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AATF, ACACA
+66 more
Copy number loss
Chromosome 17q12 deletion syndrome
GPathogenic
ZNF830
(K114N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC130060706, ZNF830
(A80V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF830
(G224R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC130060706, ZNF830
(V60I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC130060706, ZNF830
(E19K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF830
(N207D)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
ZNF830
(D271N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF830
(A243G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF830
(E334K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC130060706, ZNF830
(A43V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC130060706, ZNF830
(L51V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF830
(R175T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC130060706, ZNF830
(Q67P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF830
(E199D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF830
(A229T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCT6B, FNDC8
+12 more
Copy number loss
not provided
GUncertain significance
AATF, ABHD15
+201 more
Copy number gain
not provided
GPathogenic
ASIC2, CCL1
+16 more
Deletion
Neurodevelopmental disorder
GUncertain significance
CCL1, CCL13
+6 more
Copy number gain
not provided
GUncertain significance
AP2B1, ASIC2
+40 more
Copy number loss
not provided
GUncertain significance
ALOX12, ALOX12B
+1143 more
Copy number gain
See cases
GPathogenic
SPEM2, TBCD
+1143 more
Copy number gain
See cases
GPathogenic
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