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Items: 48

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130059197, LOC130059198
+575 more
Copy number gain
See cases
GPathogenic
AARS1, AP1G1
+263 more
Copy number loss
See cases
GPathogenic
AARS1, ADAT1
+295 more
Copy number loss
See cases
GPathogenic
ZFHX3, ZFHX3-AS1
(T2780fs +1 more)
Duplication
(non-coding transcript variant +1 more)
not provided
GUncertain significance
ZFHX3, ZFHX3-AS1
(S2679fs +1 more)
Deletion
(non-coding transcript variant +1 more)
not provided
GUncertain significance
ZFHX3, ZFHX3-AS1
(A2565E +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ZFHX3, ZFHX3-AS1
(D2322fs +1 more)
Deletion
(frameshift variant)
not provided
GUncertain significance
ZFHX3, ZFHX3-AS1
(P2014fs +1 more)
Deletion
(frameshift variant)
not provided
GUncertain significance
ZFHX3, ZFHX3-AS1
(Q1913P +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ZFHX3, ZFHX3-AS1
(G1721del +1 more)
Microsatellite
not provided
GUncertain significance
ZFHX3, ZFHX3-AS1
(S1717fs +1 more)
Duplication
(frameshift variant)
not provided
GUncertain significance
ZFHX3, ZFHX3-AS1
(D1664G +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ZFHX3, ZFHX3-AS1
(Y1406C +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ZFHX3, ZFHX3-AS1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
ZFHX3, ZFHX3-AS1
(E1388A +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ZFHX3, ZFHX3-AS1
(F1347fs +1 more)
Duplication
(frameshift variant)
not provided
GUncertain significance
ZFHX3, ZFHX3-AS1
(P1142L +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ZFHX3, ZFHX3-AS1
(Q1054fs +1 more)
Deletion
(frameshift variant)
not provided
GUncertain significance
ZFHX3, ZFHX3-AS1
(S1804G +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ZFHX3, ZFHX3-AS1
(V1752D +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ZFHX3, ZFHX3-AS1
(Q1724* +1 more)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
ZFHX3-AS1, ZFHX3
(E1612* +1 more)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
ZFHX3, ZFHX3-AS1
(C1601fs +1 more)
Deletion
(frameshift variant)
not provided
GUncertain significance
ZFHX3, ZFHX3-AS1
(H1569Y +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ZFHX3, ZFHX3-AS1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
ZFHX3, ZFHX3-AS1
(C1367fs +1 more)
Duplication
(frameshift variant)
not provided
GUncertain significance
ZFHX3, ZFHX3-AS1
(K1330fs +1 more)
Deletion
(frameshift variant)
not provided
GUncertain significance
ZFHX3, ZFHX3-AS1
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
ZFHX3, ZFHX3-AS1
(V1306I +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ZFHX3, ZFHX3-AS1
(T1213fs +1 more)
Deletion
(frameshift variant)
not provided
GUncertain significance
C16orf47, HCCAT5
+15 more
Copy number gain
See cases
GBenign
ZFHX3
(N1102K +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ZFHX3
(W62S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ZFHX3
(I821V)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
ZFHX3
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
ZFHX3
(V777A)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
ZFHX3
(N753fs)
Deletion
(frameshift variant +1 more)
not provided
GUncertain significance
ZFHX3
(K693E)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ZFHX3
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
ZFHX3
(P390S)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ZFHX3
(R372*)
Single nucleotide variant
(nonsense +1 more)
not provided
GUncertain significance
ZFHX3
(E119fs)
Duplication
(frameshift variant +1 more)
not provided
GUncertain significance
ZFHX3
(E26fs)
Deletion
(frameshift variant +1 more)
not provided
GUncertain significance
C16orf47, HCCAT5
+21 more
Copy number loss
See cases
GUncertain significance
LOC112486211, LOC112486212
+360 more
Copy number loss
See cases
GPathogenic
ZFHX3
(S1358* +1 more)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
ZFHX3
(R1370Q +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ZFHX3
(Q1462* +1 more)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
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