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Items: 67

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PDIA5, PHLDB2
+1344 more
Copy number gain
See cases
GPathogenic
LOC115995524, LOC115995525
+2647 more
Copy number gain
See cases
GPathogenic
LOC129937460, LOC129937461
+571 more
Copy number loss
See cases
GPathogenic
LOC129937605, LOC129937606
+484 more
Copy number gain
See cases
GUncertain significance
ABTB1, ACAD9
+124 more
Copy number loss
See cases
GPathogenic
LOC129937518, LOC129937519
+248 more
Copy number loss
See cases
GLikely pathogenic
ABTB1
(R32W)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ABTB1
(D33V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ABTB1
(T38I)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ABTB1
(E50D)
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
GUncertain significance
ABTB1
(L53F)
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
GUncertain significance
ABTB1
(L55F)
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
GUncertain significance
ABTB1
(S78N)
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
GUncertain significance
ABTB1
(I81M)
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
GUncertain significance
ABTB1
(R83Q)
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
GUncertain significance
ABTB1
(R86H)
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
GUncertain significance
ABTB1
(A93S)
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
GUncertain significance
ABTB1
(D103N)
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
GUncertain significance
ABTB1
(G112D)
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
GUncertain significance
ABTB1
(H114R)
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
GUncertain significance
ABTB1
(R127Q)
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
GUncertain significance
ABTB1
(R130C)
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
GUncertain significance
ABTB1
(R136H)
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
GUncertain significance
ABTB1
(T4A +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ABTB1
(R15G +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ABTB1
(P21A +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ABTB1
(A168S +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ABTB1
(R177C +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ABTB1
(V182I +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ABTB1
(Q52R +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ABTB1
(S60G +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ABTB1
(E63K +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ABTB1
(K210N +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ABTB1
(A74P +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ABTB1
(A233V +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ABTB1
(R238W +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ABTB1
(D104N +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ABTB1
(D295E +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ABTB1
(F297L +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ABTB1
(S166R +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ABTB1
(E309G +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ABTB1
(E168D +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ABTB1
(G315R +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ABTB1
(P185A +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ABTB1
(D328N +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ABTB1
(V329I +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
ABTB1
(S345C +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ABTB1
(V213I +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
ABTB1
(A214T +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ABTB1
(Q374R +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ABTB1
(D256G +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ABTB1
(V276M +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ABTB1
(Q290E +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ABTB1
(R444H +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ABTB1
(S455R +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ABTB1
(E316K +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ABTB1
(R321C +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ABTB1
(R321H +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ABTB1, ALDH1L1
+26 more
Copy number loss
not specified
GUncertain significance
ABTB1, KBTBD12
+7 more
Deletion
not provided
GUncertain significance
ABTB1, ACAD9
+38 more
Duplication
Deafness-lymphedema-leukemia syndrome
+1 more
GUncertain significance
A4GNT, AADAC
+303 more
Copy number gain
not provided
GPathogenic
ABTB1, ACAD11
+109 more
Deletion
Alkaptonuria
GPathogenic
ABTB1, ACAD9
+59 more
Deletion
Deafness-lymphedema-leukemia syndrome
+1 more
GPathogenic
ABTB1, ADCY5
+69 more
Deletion
Deafness-lymphedema-leukemia syndrome
+1 more
GPathogenic
HHLA2, HIGD1A
+1054 more
Copy number gain
See cases
GPathogenic
A4GNT, AADAC
+1054 more
Copy number gain
See cases
GPathogenic
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