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Items: 1 to 100 of 1394

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ARHGAP15, ARHGAP15-AS1
+75 more
Copy number loss
See cases
GPathogenic
ARHGAP15, ARHGAP15-AS1
+50 more
Copy number loss
See cases
GPathogenic
ACVR2A, ARHGAP15
+57 more
Copy number loss
See cases
GPathogenic
ARHGAP15, ARHGAP15-AS1
+43 more
Copy number loss
See cases
GPathogenic
GTDC1, LOC101928386
+12 more
Copy number loss
See cases
GPathogenic
ACVR1, ACVR1C
+238 more
Copy number gain
See cases
GPathogenic
GTDC1, LINC01412
+17 more
Copy number gain
See cases
GUncertain significance
GTDC1, LINC01412
+13 more
Copy number loss
See cases
GPathogenic
GTDC1, LINC01412
+15 more
Deletion
Mowat-Wilson syndrome
GPathogenic
GTDC1, LOC110120671
+10 more
Copy number loss
See cases
GPathogenic
GTDC1, LINC01412
+15 more
Copy number loss
See cases
GPathogenic
ZEB2
Duplication
(3 prime UTR variant)
Mowat-Wilson syndrome
GUncertain significance
ZEB2
Duplication
(3 prime UTR variant)
Mowat-Wilson syndrome
GUncertain significance
ZEB2
Deletion
(3 prime UTR variant)
Mowat-Wilson syndrome
GBenign
ZEB2
Duplication
(3 prime UTR variant)
Mowat-Wilson syndrome
+1 more
GConflicting classifications of pathogenicity
ZEB2
Single nucleotide variant
(3 prime UTR variant)
not provided
GBenign
ZEB2
Deletion
(3 prime UTR variant)
Mowat-Wilson syndrome
GLikely benign
ZEB2
Microsatellite
(3 prime UTR variant)
Mowat-Wilson syndrome
GUncertain significance
ZEB2
Microsatellite
(3 prime UTR variant)
Mowat-Wilson syndrome
GUncertain significance
ZEB2
Microsatellite
(3 prime UTR variant)
Mowat-Wilson syndrome
GUncertain significance
ZEB2
Microsatellite
(3 prime UTR variant)
Mowat-Wilson syndrome
GUncertain significance
ZEB2
Insertion
(3 prime UTR variant)
Mowat-Wilson syndrome
GUncertain significance
ZEB2
Microsatellite
(3 prime UTR variant)
Mowat-Wilson syndrome
+1 more
GConflicting classifications of pathogenicity
ZEB2
Single nucleotide variant
(3 prime UTR variant)
not provided
GLikely benign
ZEB2
Single nucleotide variant
(3 prime UTR variant)
not provided
GLikely benign
ZEB2
Deletion
(3 prime UTR variant)
Mowat-Wilson syndrome
GUncertain significance
ZEB2
Deletion
(3 prime UTR variant)
Mowat-Wilson syndrome
GUncertain significance
ZEB2
Duplication
(3 prime UTR variant)
Mowat-Wilson syndrome
GUncertain significance
ZEB2
Microsatellite
(3 prime UTR variant)
Mowat-Wilson syndrome
GUncertain significance
LOC110120671, LOC111721705
+3 more
Deletion
not provided
GPathogenic
ZEB2
Duplication
(3 prime UTR variant)
Mowat-Wilson syndrome
GUncertain significance
ZEB2
Deletion
(3 prime UTR variant)
Mowat-Wilson syndrome
GUncertain significance
ZEB2
Duplication
(3 prime UTR variant)
Mowat-Wilson syndrome
GUncertain significance
ZEB2
Deletion
(3 prime UTR variant)
Mowat-Wilson syndrome
GUncertain significance
ZEB2
Duplication
(3 prime UTR variant)
Mowat-Wilson syndrome
GLikely benign
ZEB2
Single nucleotide variant
(3 prime UTR variant)
not specified
GLikely benign
ZEB2
(M1214V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GBenign/Likely benign
ZEB2
(G1213V +1 more)
Single nucleotide variant
(missense variant)
Mowat-Wilson syndrome
GUncertain significance
ZEB2
(N1185D +1 more)
Single nucleotide variant
(missense variant)
Mowat-Wilson syndrome
GUncertain significance
ZEB2
(H1181R +1 more)
Single nucleotide variant
(missense variant)
Mowat-Wilson syndrome
GLikely benign
ZEB2
(D1180N +1 more)
Single nucleotide variant
(missense variant)
Mowat-Wilson syndrome
GLikely benign
ZEB2
(S1179L +1 more)
Single nucleotide variant
(missense variant)
Mowat-Wilson syndrome
GUncertain significance
ZEB2
(E1200G +1 more)
Single nucleotide variant
(missense variant)
Mowat-Wilson syndrome
GUncertain significance
ZEB2
(M1175L +1 more)
Single nucleotide variant
(missense variant)
Mowat-Wilson syndrome
GUncertain significance
ZEB2
Single nucleotide variant
(synonymous variant)
Mowat-Wilson syndrome
GLikely benign
ZEB2
(E1171A +1 more)
Single nucleotide variant
(missense variant)
Mowat-Wilson syndrome
GUncertain significance
ZEB2
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
ZEB2
(S1193T +1 more)
Single nucleotide variant
(missense variant)
Mowat-Wilson syndrome
GUncertain significance
ZEB2
(D1192A +1 more)
Single nucleotide variant
(missense variant)
Mowat-Wilson syndrome
GUncertain significance
ZEB2
(D1168Y +1 more)
Single nucleotide variant
(missense variant)
Mowat-Wilson syndrome
GBenign
ZEB2
(D1168H +1 more)
Single nucleotide variant
(missense variant)
Mowat-Wilson syndrome
GUncertain significance
ZEB2
(M1190I +1 more)
Single nucleotide variant
(missense variant)
Mowat-Wilson syndrome
GUncertain significance
ZEB2
(M1166fs +1 more)
Duplication
(frameshift variant)
Mowat-Wilson syndrome
GPathogenic
ZEB2
Single nucleotide variant
(synonymous variant)
Mowat-Wilson syndrome
GLikely benign
ZEB2
(H1188R +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
ZEB2
(G1162A +1 more)
Single nucleotide variant
(missense variant)
Mowat-Wilson syndrome
GLikely benign
ZEB2
(G1186V +1 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GLikely benign
ZEB2
Single nucleotide variant
(synonymous variant)
Aganglionic megacolon
GUncertain significance
ZEB2
(E1182fs +1 more)
Deletion
(frameshift variant)
not provided
GPathogenic
ZEB2
(R1156Q +1 more)
Single nucleotide variant
(missense variant)
Mowat-Wilson syndrome
+1 more
GUncertain significance
ZEB2
Single nucleotide variant
(synonymous variant)
Mowat-Wilson syndrome
GLikely benign
ZEB2
(R1180G +1 more)
Single nucleotide variant
(missense variant)
Mowat-Wilson syndrome
GUncertain significance
ZEB2
(I1155K +1 more)
Single nucleotide variant
(missense variant)
Mowat-Wilson syndrome
GUncertain significance
ZEB2
(I1179T +1 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
ZEB2
(I1155V +1 more)
Single nucleotide variant
(missense variant)
Mowat-Wilson syndrome
GConflicting classifications of pathogenicity
ZEB2
(T1154fs +1 more)
Deletion
(frameshift variant)
not provided
GPathogenic
ZEB2
(P1152H +1 more)
Single nucleotide variant
(missense variant)
Mowat-Wilson syndrome
GUncertain significance
ZEB2
Single nucleotide variant
(synonymous variant)
Mowat-Wilson syndrome
GLikely benign
ZEB2
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
ZEB2
(S1147N +1 more)
Single nucleotide variant
(missense variant)
Mowat-Wilson syndrome
GUncertain significance
ZEB2
(E1144A +1 more)
Single nucleotide variant
(missense variant)
Mowat-Wilson syndrome
GUncertain significance
ZEB2
(S1143fs +1 more)
Deletion
(frameshift variant)
Mowat-Wilson syndrome
GPathogenic
ZEB2
Single nucleotide variant
(synonymous variant)
Mowat-Wilson syndrome
GLikely benign
ZEB2
(E1140D +1 more)
Single nucleotide variant
(missense variant)
Mowat-Wilson syndrome
GUncertain significance
ZEB2
Single nucleotide variant
(synonymous variant)
Mowat-Wilson syndrome
GLikely benign
ZEB2
(F1136E +1 more)
Inversion
(missense variant)
Mowat-Wilson syndrome
GUncertain significance
ZEB2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ZEB2
Single nucleotide variant
(synonymous variant)
ZEB2-related condition
+3 more
GBenign
ZEB2
(D1133N +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ZEB2
(G1156A +1 more)
Single nucleotide variant
(missense variant)
Mowat-Wilson syndrome
GUncertain significance
ZEB2
(G1132C +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GLikely benign
ZEB2
(D1131N +1 more)
Single nucleotide variant
(missense variant)
Mowat-Wilson syndrome
GUncertain significance
ZEB2
Single nucleotide variant
(synonymous variant)
Mowat-Wilson syndrome
GLikely benign
ZEB2
(G1128R +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ZEB2
Single nucleotide variant
(synonymous variant)
Mowat-Wilson syndrome
GLikely benign
ZEB2
(L1151P +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
ZEB2
Single nucleotide variant
(synonymous variant)
Mowat-Wilson syndrome
GLikely benign
ZEB2
(L1127V +1 more)
Single nucleotide variant
(missense variant)
Mowat-Wilson syndrome
GUncertain significance
ZEB2
(L1151M +1 more)
Single nucleotide variant
(missense variant)
Mowat-Wilson syndrome
+1 more
GLikely benign
ZEB2
(G1125R +1 more)
Single nucleotide variant
(missense variant)
Mowat-Wilson syndrome
GUncertain significance
ZEB2
Single nucleotide variant
(synonymous variant)
Mowat-Wilson syndrome
+1 more
GLikely benign
ZEB2
Duplication
(inframe_insertion)
Mowat-Wilson syndrome
GLikely benign
ZEB2
(E1121D +1 more)
Single nucleotide variant
(missense variant)
Mowat-Wilson syndrome
GUncertain significance
ZEB2
Single nucleotide variant
(synonymous variant)
Mowat-Wilson syndrome
+3 more
GLikely benign
ZEB2
(G1144C +1 more)
Single nucleotide variant
(missense variant)
Mowat-Wilson syndrome
GUncertain significance
ZEB2
(G1120S +1 more)
Single nucleotide variant
(missense variant)
Mowat-Wilson syndrome
GUncertain significance
ZEB2
Single nucleotide variant
(synonymous variant)
Mowat-Wilson syndrome
GLikely benign
ZEB2
(E1113G +1 more)
Single nucleotide variant
(missense variant)
Mowat-Wilson syndrome
GUncertain significance
ZEB2
(E1137K +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ZEB2
(S1136R +1 more)
Single nucleotide variant
(missense variant)
Mowat-Wilson syndrome
GUncertain significance
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