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Items: 1 to 100 of 162

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACBD7, ACBD7-DCLRE1CP1
+837 more
Copy number gain
See cases
GPathogenic
ABI1, ACBD5
+1221 more
Copy number gain
See cases
GBenign
ABI1, ACBD5
+376 more
Copy number gain
See cases
GLikely pathogenic
GPR158-AS1, KIAA1217
+35 more
Copy number loss
See cases
GPathogenic
ARHGAP21
(E1796fs +4 more)
Microsatellite
(frameshift variant +1 more)
not provided
GLikely benign
ARHGAP21
(S1940T +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
ARHGAP21
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ARHGAP21
(P1931R +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ARHGAP21
(P1728T +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ARHGAP21
(V1716M +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
ARHGAP21
(Q1770P +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ARHGAP21
(Q1763K +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ARHGAP21
(P1915L +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ARHGAP21
(R1857K +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ARHGAP21
(R1702C +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ARHGAP21
(R1759C +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ARHGAP21
(E1643G +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ARHGAP21
(V1678L +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ARHGAP21
(E1614K +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ARHGAP21
(K1722E +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ARHGAP21
(E1599K +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ARHGAP21
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ARHGAP21
(V1778L +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ARHGAP21
(V1690M +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ARHGAP21
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ARHGAP21
(G1654S +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
ARHGAP21
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ARHGAP21
(V1733A +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ARHGAP21
(S1572L +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ARHGAP21
(L1490F +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
ARHGAP21
(T1520P +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ARHGAP21
(R1453Q +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ARHGAP21
(F1644L +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ARHGAP21
(E1483K +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ARHGAP21
(D1423E +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ARHGAP21
(R1631W +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ARHGAP21
(E1412D +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ARHGAP21
(S1457G +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ARHGAP21
(A1455V +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ARHGAP21
(V1398M +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ARHGAP21
(E1509D +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ARHGAP21
(S1500I +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ARHGAP21
(A1495P +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ARHGAP21
(T1339M +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ARHGAP21
(S1534C +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ARHGAP21
(S1324Y +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ARHGAP21
(K1274E +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ARHGAP21
(T1469N +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ARHGAP21
(E1263G +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ARHGAP21
(S1305N +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ARHGAP21
(F1284I +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ARHGAP21
(N1226D +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ARHGAP21
(L1398P +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ARHGAP21
(V1284I +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ARHGAP21
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ARHGAP21
(D1268N +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ARHGAP21
Duplication
(splice acceptor variant)
not provided
GBenign
ARHGAP21
(R1091H +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ARHGAP21
(N1149S +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ARHGAP21
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
ARHGAP21
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
ARHGAP21
(I1164R +4 more)
Single nucleotide variant
(missense variant +1 more)
Abnormal brain morphology
GLikely pathogenic
ARHGAP21
(I1063V +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ARHGAP21
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ARHGAP21
(G908S +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
ARHGAP21
(K961E +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ARHGAP21
(L1075F +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ARHGAP21
(S1080N +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ARHGAP21
(S1039N +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ARHGAP21
(T1024M +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ARHGAP21
(C1006S +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
ARHGAP21
(R907W +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ARHGAP21
(P769L +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ARHGAP21
(K966T +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ARHGAP21
(G967S +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ARHGAP21
(R743Q +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ARHGAP21
(K736E +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ARHGAP21
(R728Q +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ARHGAP21
(S769T +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ARHGAP21
(G762V +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ARHGAP21
(S904L +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ARHGAP21
(V900L +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ARHGAP21
(V687I +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ARHGAP21
(P659L +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ARHGAP21
(P652S +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ARHGAP21
(R640H +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ARHGAP21
(T811A +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ARHGAP21
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ARHGAP21
(R778C +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ARHGAP21
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ARHGAP21
(G609R +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
ARHGAP21
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
ARHGAP21
(Q562R +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
ARHGAP21
(L559I +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ARHGAP21
(S483L +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ARHGAP21
(A536S +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ARHGAP21
(S471C +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
ARHGAP21
(R668K +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ARHGAP21
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ARHGAP21
(H534Y +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
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