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Items: 77

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ATG10, ATP6AP1L
+691 more
Copy number gain
See cases
GPathogenic
ADGRV1, ARB2A
+275 more
Copy number loss
See cases
GPathogenic
TSSK1B, WDR36
+275 more
Copy number gain
See cases
GPathogenic
CHD1
(P1684del +1 more)
Deletion
(inframe_deletion +1 more)
not provided
GBenign
CHD1
(S1627F +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CHD1
(S1617L +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
CHD1
(S1569N +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CHD1
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
CHD1
(H1499L +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CHD1
(P1468T +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CHD1
(K1463fs +1 more)
Deletion
(frameshift variant +1 more)
not provided
GUncertain significance
CHD1
(R1448T +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CHD1
(P1434fs +1 more)
Deletion
(frameshift variant +1 more)
not provided
GUncertain significance
CHD1
(R1433K +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CHD1
(D1432H +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CHD1
(Q1430R +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CHD1
Microsatellite
not provided
GUncertain significance
CHD1
(V1400fs +1 more)
Deletion
(frameshift variant +1 more)
not provided
GUncertain significance
CHD1
(R1378G +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CHD1
(N1339K)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CHD1
(G1327A)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CHD1
Deletion
(splice donor variant)
not provided
GUncertain significance
CHD1
(Q1303*)
Single nucleotide variant
(nonsense +1 more)
not provided
GUncertain significance
CHD1
(A1299T)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CHD1
(Y1266*)
Single nucleotide variant
(nonsense +1 more)
not provided
GUncertain significance
CHD1
(I1263T)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CHD1
(K1181E)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CHD1
(L1168V)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CHD1
(R1167*)
Single nucleotide variant
(nonsense +1 more)
not provided
GUncertain significance
CHD1
(E1121D)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CHD1
(I1118fs)
Duplication
(frameshift variant +1 more)
not provided
GUncertain significance
CHD1
(R1116W)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CHD1
(G1113R)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
CHD1
(S1085I)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CHD1
(N1042I)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CHD1
(R1038G)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CHD1
(S957F)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CHD1
(K927I)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CHD1
Insertion
(intron variant)
not provided
GBenign
CHD1
(R827C)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CHD1
(I819V)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CHD1
(R715G)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CHD1
(V698I)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CHD1
(G676C)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CHD1
Single nucleotide variant
(intron variant)
not provided
GBenign
CHD1
(L657P)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CHD1
(L603fs)
Insertion
(frameshift variant +1 more)
not provided
GUncertain significance
CHD1
(H578Y)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CHD1
(M570I)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CHD1
(D564E)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CHD1
(T516K)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CHD1
(S501G)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CHD1
(R460T)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CHD1
(K447N)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CHD1
(A427P)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CHD1
Indel
(nonsense +1 more)
not provided
GUncertain significance
CHD1
(K243E)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CHD1
(R233H)
Single nucleotide variant
(missense variant +1 more)
Pilarowski-Bjornsson syndrome
+1 more
GUncertain significance
CHD1
(Y225C)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CHD1
Deletion
(intron variant)
not provided
GUncertain significance
CHD1
(K187R)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CHD1
(K143N)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CHD1
(R141G)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CHD1
(S135A)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CHD1
(D131H)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CHD1
(K103N)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CHD1
(I93S)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CHD1, LOC126807465
(S64C)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CHD1, LOC126807465
(S60G)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CHD1, LOC126807465
(S54A)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CHD1, LOC126807465
(S34L)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CHD1, LOC126807465
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
CHD1
(R11G)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
CHD1
Single nucleotide variant
(splice donor variant)
not provided
GUncertain significance
CHD1
(E1321fs)
Duplication
(frameshift variant +1 more)
not provided
GUncertain significance
CHD1
(D383G)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CHD1
Indel
(intron variant)
not provided
GUncertain significance
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