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Items: 1 to 100 of 118

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126860438, LOC126860439
+3663 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+3663 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+3661 more
Copy number gain
See cases
GPathogenic
LOC105379224, LOC105379230
+3657 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+3661 more
Copy number gain
See cases
GPathogenic
LOC129999966, LOC129999967
+3111 more
Copy number gain
See cases
GPathogenic
LOC126860489, LOC126860490
+1963 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+1691 more
Copy number gain
See cases
GPathogenic
LOC126860535, LOC126860536
+1687 more
Copy number gain
See cases
GPathogenic
LOC105375713, LOC105375742
+1553 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+1153 more
Copy number gain
See cases
GPathogenic
LOC130001109, LOC130001110
+1532 more
Copy number gain
See cases
GPathogenic
LOC130001226, LOC130001227
+1407 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+1330 more
Copy number gain
See cases
GPathogenic
LOC130000987, LOC130000988
+1205 more
Copy number gain
See cases
GPathogenic
LOC130001173, LOC130001174
+1068 more
Copy number gain
See cases
GPathogenic
AARD, ANXA13
+315 more
Copy number loss
See cases
GPathogenic
LOC130001070, LOC130001071
+962 more
Copy number gain
See cases
GPathogenic
LOC130001241, LOC130001242
+559 more
Copy number gain
Neurodevelopmental disorder
GPathogenic
ANXA13, ATAD2
+286 more
Copy number gain
See cases
GPathogenic
ATAD2, C8orf76
+51 more
Copy number gain
See cases
GPathogenic
ZHX2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ZHX2
(G36S)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
ZHX2
(L51F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZHX2
(L106I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZHX2
Single nucleotide variant
(synonymous variant)
not provided
GBenign
ZHX2
(V111M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZHX2
(A113S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZHX2
(K120T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZHX2
(S124F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZHX2
(K142N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZHX2
(R146C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZHX2
(E157K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZHX2
(V212M)
Single nucleotide variant
(missense variant)
not provided
GBenign
ZHX2
(E213K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZHX2
(T215N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZHX2
(R217H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZHX2
(G230D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZHX2
(L235F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZHX2
(L235H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZHX2
(M243R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZHX2
(A298V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZHX2
Single nucleotide variant
(synonymous variant)
not provided
GBenign
ZHX2
(A350T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZHX2
(T355A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZHX2
(T358M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZHX2
(T364M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZHX2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ZHX2
(G384R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZHX2
(V397M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZHX2
(V410A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZHX2
(P416H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZHX2
(A434D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZHX2
(P436L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZHX2
(H453R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZHX2
(A456S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZHX2
(E474K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZHX2
(V475A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZHX2
(D509V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZHX2
(R517Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZHX2
(A524V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZHX2
(D527G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZHX2
(G539S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZHX2
(S551N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZHX2
(R561Q)
Single nucleotide variant
(missense variant)
Hirschsprung disease, susceptibility to, 1
GUncertain significance
ZHX2
(K567N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZHX2
(S578L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZHX2
Single nucleotide variant
(synonymous variant)
not provided
GBenign
ZHX2
(R584Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZHX2
(N608T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZHX2
(D615N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZHX2
(S624I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZHX2
(S636C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZHX2
(S636N)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
ZHX2
(T646M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZHX2
(R669Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZHX2
Single nucleotide variant
(synonymous variant)
not provided
GBenign
ZHX2
(T685M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZHX2
(H696Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZHX2
(D701V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZHX2
(D706N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZHX2
(E739K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZHX2
(E743K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZHX2
(A756T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZHX2
(C759G)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
ZHX2
(T768A)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
ZHX2
(R771L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZHX2
(R777Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZHX2
(E786K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZHX2
(V794M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZHX2
(D828N)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ADCY8, ANXA13
+51 more
Copy number loss
not specified
GPathogenic
AARD, ABRA
+665 more
Copy number gain
not specified
GPathogenic
NRBP2, NSMCE2
+173 more
Copy number gain
not provided
GPathogenic
ANXA13, ATAD2
+41 more
Copy number loss
Exostoses, multiple, type 1
GPathogenic
AARD, ADCY8
+63 more
Copy number loss
not provided
GPathogenic
AARD, ABRA
+335 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+285 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+665 more
Copy number gain
Polydactyly
GPathogenic
FZD6, PCAT1
+236 more
Copy number gain
not provided
GPathogenic
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