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Items: 58

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
INPP1, ITGA4
+1097 more
Copy number gain
See cases
GPathogenic
LOC129935343, LOC129935344
+1703 more
Copy number gain
See cases
GPathogenic
AAMP, ABCA12
+1687 more
Copy number gain
See cases
GPathogenic
LOC129935726, LOC129935727
+1665 more
Copy number gain
See cases
GPathogenic
LOC129935713, LOC129935714
+1299 more
Copy number gain
See cases
GPathogenic
AAMP, ABCA12
+1148 more
Copy number gain
See cases
GPathogenic
LOC110120629, LOC110120691
+986 more
Copy number gain
See cases
GPathogenic
ABCB6, ACSL3
+195 more
Copy number loss
See cases
GPathogenic
ACSL3, ACSL3-AS1
+75 more
Copy number loss
See cases
GPathogenic
AP1S3, LOC112840902
+29 more
Copy number loss
See cases
GPathogenic
WDFY1
(A361V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WDFY1
(G379E +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WDFY1
(N368D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WDFY1
(G280R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WDFY1
(G280R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WDFY1
(V273I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WDFY1
(G222R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WDFY1
(V258I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WDFY1
(S204L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WDFY1
(T235A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WDFY1
(G107R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WDFY1
(T100A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WDFY1
(W140R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WDFY1
(S96N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WDFY1
(K65N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WDFY1
(K108E +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WDFY1
(H53Y +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WDFY1
(H77R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WDFY1
(A75V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WDFY1
(M67I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WDFY1
(D55N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WDFY1
(R49Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WDFY1
(L32V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WDFY1
(T28S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WDFY1
(S7C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AAMP, ABCB6
+218 more
Copy number gain
See cases
GPathogenic
AAMP, ABCB6
+208 more
Copy number gain
not provided
GPathogenic
ACSL3, AP1S3
+13 more
Copy number loss
Waardenburg syndrome type 1
GPathogenic
ABCA12, ABCB11
+1216 more
Copy number gain
Mosaic trisomy 2
GPathogenic
AP1S3, MRPL44
+2 more
Copy number gain
not specified
GUncertain significance
ACSL3, AGFG1
+40 more
Copy number loss
not specified
GPathogenic
FBXO36, UGT1A5
+147 more
Copy number loss
not specified
GPathogenic
AP1S3, CUL3
+4 more
Duplication
not provided
GUncertain significance
PTPRN, RESP18
+36 more
Copy number loss
not provided
GPathogenic
AAMP, ABCA12
+384 more
Copy number gain
See cases
GPathogenic
MOGAT1, KCNE4
+8 more
Copy number loss
not provided
GPathogenic
CTDSP1, NGEF
+197 more
Copy number gain
See cases
GPathogenic
ACSL3, ADAM23
+208 more
Duplication
Neurodevelopmental disorder
GPathogenic
ABCB6, ACKR3
+183 more
Copy number gain
not provided
GPathogenic
AAMP, ABCB6
+71 more
Copy number loss
not provided
GPathogenic
PAX3, FAM124B
+13 more
Copy number loss
not provided
GPathogenic
SGPP2, MRPL44
+14 more
Copy number loss
not provided
GPathogenic
IRS1, KCNE4
+77 more
Copy number loss
not provided
GLikely pathogenic
RGPD4, RGPD5
+1214 more
Copy number gain
See cases
GPathogenic
IL1F10, IL1R1
+1214 more
Copy number gain
See cases
GPathogenic
UGT1A8, UGT1A9
+113 more
Copy number gain
See cases
GPathogenic
AAMP, ABCA12
+225 more
Copy number gain
See cases
GPathogenic
WDFY1, FOXG1
Translocation
Rett syndrome, congenital variant
GPathogenic
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