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Links from Gene

Items: 40

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130065730, TP53INP2
(P122L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC130065732, TP53INP2
(R174Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC130065730, TP53INP2
(W71C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACSS2, ACTL10
+51 more
Deletion
Glutathione synthetase deficiency with 5-oxoprolinuria
GPathogenic
TP53INP2
(V189L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TP53INP2
(A188E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC130065732, TP53INP2
(Q173R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC125387262, TP53INP2
(P16L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC130065732, TP53INP2
(E146K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC130065730, TP53INP2
(M106L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC130065730, TP53INP2
(P95R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC130065730, TP53INP2
(D68N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC130065730, TP53INP2
(S49G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TP53INP2
(L36V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC130065732, TP53INP2
(P147L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC130065732, TP53INP2
(A143T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC130065730, TP53INP2
(S49N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC130065730, TP53INP2
(E69Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC130065732, TP53INP2
(R145G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TP53INP2
(G133S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC130065730, TP53INP2
(G87A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC130065732, TP53INP2
(L156V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC125387262, TP53INP2
(E17Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC130065732, TP53INP2
(R144H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC125387262, TP53INP2
(V26L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TP53INP2
(K187M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AAR2, ACSS2
+98 more
Copy number gain
not provided
GLikely pathogenic
ACSS2, ACTL10
+86 more
Copy number gain
not provided
GLikely pathogenic
ACSS2, ACTL10
+71 more
Copy number gain
not specified
GPathogenic
ACSS2, ACTL10
+53 more
Deletion
not provided
GPathogenic
ABHD12, ACSS1
+117 more
Copy number gain
not provided
GLikely pathogenic
AAR2, ACSS2
+88 more
Copy number gain
not provided
GPathogenic
CBFA2T2, CHMP4B
+17 more
Deletion
Long QT syndrome
GUncertain significance
ACSS2, ACTL10
+25 more
Deletion
Long QT syndrome
GUncertain significance
AAR2, ABHD12
+540 more
Copy number gain
See cases
GPathogenic
AAR2, ABHD12
+540 more
Copy number gain
See cases
GPathogenic
ACSS2, ACTL10
+254 more
Copy number gain
See cases
GPathogenic
JPH2, KAT14
+2522 more
Copy number gain
See cases
GPathogenic
AAR2, ACSS2
+214 more
Copy number loss
See cases
GPathogenic
LOC613266, MACROD2
+950 more
Copy number gain
See cases
GPathogenic
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