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Links from Gene

Items: 44

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ZNF439
(F339V +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF439
(K221Q +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF439
(I201L +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF439
(K238E +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF439
(N82K +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF439
(C206S +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF439
(W40R +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
ZNF439
(W503R +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF439
(A371T +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF439
(E271D +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MIR199A1, ODAD3
+87 more
Copy number loss
not specified
GPathogenic
ZNF439
(M246T +5 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
ZNF439
(H335Y +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF439
(K116E +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
ZNF439
(T344S +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF439
(T451I +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF439
(S244I +5 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
ACP5, ANGPTL8
+68 more
Duplication
not provided
GUncertain significance
ACP5, ANGPTL8
+81 more
Duplication
Charcot-Marie-Tooth disease dominant intermediate B
+4 more
GUncertain significance
ZNF439
(L126F +5 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
ZNF439
(R301H +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF439
(P381L +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF439
(N40S +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF439
(P163L +5 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
ZNF439
(N29K +3 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
ZNF439
(K41R +3 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
ZNF439
(Q367R +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF439
(F210V +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF20, ZNF433
+11 more
Copy number loss
not provided
GUncertain significance
ZNF653, ZNF69
+63 more
Copy number loss
not provided
Gnot provided
ELOF1, EPOR
+23 more
Copy number gain
not provided
GUncertain significance
ACP5, ANGPTL8
+63 more
Deletion
not provided
Gnot provided
PGLYRP1, PGLYRP2
+1364 more
Copy number gain
See cases
GPathogenic
TMC4, TMED1
+1364 more
Copy number gain
See cases
GPathogenic
ACP5, ADGRE5
+82 more
Copy number gain
See cases
GUncertain significance
ADGRL1, ANGPTL6
+153 more
Copy number gain
See cases
GPathogenic
ZNF439, ZNF440
+3 more
Copy number gain
See cases
GLikely benign
ACP5, ANGPTL8
+434 more
Copy number loss
See cases
GPathogenic
LOC112543445, LOC112543446
+355 more
Copy number loss
See cases
GPathogenic
ABHD8, ACP5
+2135 more
Copy number gain
See cases
GPathogenic
LOC130063609, LOC130063610
+4 more
Copy number gain
See cases
GUncertain significance
ACP5, BEST2
+261 more
Copy number loss
See cases
GPathogenic
LOC130063608, LOC130063609
+484 more
Copy number gain
See cases
GPathogenic
LOC126862863, LOC126862864
+536 more
Copy number gain
See cases
GLikely pathogenic
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