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Links from Gene

Items: 70

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ADCK5, ARHGAP39
+44 more
Copy number gain
not provided
GUncertain significance
ADCK5, ARHGAP39
+63 more
Copy number gain
not specified
GUncertain significance
AARD, ABRA
+665 more
Copy number gain
not specified
GPathogenic
NRBP2, NSMCE2
+173 more
Copy number gain
not provided
GPathogenic
ADCK5, ARHGAP39
+40 more
Copy number gain
not provided
GUncertain significance
ADCK5, ADGRB1
+95 more
Copy number gain
not provided
GPathogenic
BOP1, SCX
(G138S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
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
BOP1, CCDC166
+22 more
Copy number gain
not specified
GUncertain significance
ADCK5, ADCY8
+117 more
Copy number gain
not specified
GPathogenic
DCAF4L2, DCSTAMP
+333 more
Copy number gain
not specified
GPathogenic
ADCK5, BOP1
+52 more
Deletion
Epidermolysis bullosa simplex 5C, with pyloric atresia
+5 more
GPathogenic
ADCK5, BOP1
+66 more
Duplication
Holoprosencephaly sequence
GUncertain significance
TONSL, VPS28
+27 more
Duplication
Brown-Vialetto-van Laere syndrome 2
GUncertain significance
HGH1, MIR1234
+44 more
Copy number gain
not provided
GUncertain significance
ADCK5, ARHGAP39
+69 more
Copy number gain
not provided
GLikely pathogenic
ADCK5, BOP1
+16 more
Copy number gain
not provided
GUncertain significance
ADGRB1, ARC
+62 more
Copy number loss
not provided
GPathogenic
ADCK5, ADCY8
+119 more
Copy number gain
not provided
GPathogenic
ADGRB1, ADCY8
+155 more
Copy number gain
not provided
GPathogenic
ADCK5, ADCY8
+150 more
Copy number gain
not provided
GPathogenic
BAALC, CNOT7
+665 more
Copy number gain
not provided
GPathogenic
HSF1, HTRA4
+474 more
Copy number gain
not provided
GPathogenic
ADCK5, ARHGAP39
+70 more
Copy number gain
not provided
GUncertain significance
ADCK5, ADGRB1
+100 more
Copy number gain
not provided
GPathogenic
ADCK5, ADGRB1
+99 more
Copy number gain
not provided
GPathogenic
ADCK5, ADCY8
+132 more
Copy number gain
not provided
GPathogenic
ADCK5, BOP1
+28 more
Duplication
Epidermolysis bullosa simplex 5B, with muscular dystrophy
+4 more
GUncertain significance
ADCK5, BOP1
+28 more
Duplication
Brown-Vialetto-van Laere syndrome 2
GUncertain significance
ADCK5, ADCY8
+151 more
Copy number gain
not provided
GPathogenic
ZFP41, ZFTRAF1
+80 more
Copy number gain
not provided
GPathogenic
CYP11B1, KIFC2
+86 more
Copy number gain
Intellectual disability
GPathogenic
AARD, ABRA
+277 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+593 more
Copy number gain
See cases
GPathogenic
AARD, ADCK5
+172 more
Copy number gain
See cases
GPathogenic
ADCK5, ADGRB1
+100 more
Copy number gain
See cases
GLikely pathogenic
AARD, ABRA
+665 more
Copy number gain
See cases
GPathogenic
FGF20, FGFR1
+665 more
Copy number gain
See cases
GPathogenic
ADCK5, ARHGAP39
+50 more
Copy number gain
See cases
GUncertain significance
AARD, ABRA
+228 more
Copy number gain
See cases
GPathogenic
SCRT1, SCX
+665 more
Copy number gain
See cases
GPathogenic
ADCK5, ADGRB1
+101 more
Copy number gain
See cases
GPathogenic
LOC105375713, LOC105375742
+1553 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+3663 more
Copy number gain
See cases
GPathogenic
LOC130001173, LOC130001174
+1068 more
Copy number gain
See cases
GPathogenic
LOC126860535, LOC126860536
+1687 more
Copy number gain
See cases
GPathogenic
LOC129999966, LOC129999967
+3111 more
Copy number gain
See cases
GPathogenic
LOC126860438, LOC126860439
+3663 more
Copy number gain
See cases
GPathogenic
LOC130000987, LOC130000988
+1205 more
Copy number gain
See cases
GPathogenic
BOP1, HGH1
+13 more
Copy number gain
See cases
GBenign/Likely benign
AARD, ABRA
+1330 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+1691 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+3661 more
Copy number gain
See cases
GPathogenic
LOC130001109, LOC130001110
+1532 more
Copy number gain
See cases
GPathogenic
EPPK1, ERICD
+499 more
Copy number gain
See cases
GPathogenic
ADCK5, ADGRB1
+375 more
Copy number gain
See cases
GLikely pathogenic
ADCK5, ADCY8
+746 more
Copy number gain
See cases
GPathogenic
TOP1MT, TRAPPC9
+373 more
Copy number gain
See cases
GLikely pathogenic
LOC130001226, LOC130001227
+1407 more
Copy number gain
See cases
GPathogenic
ADCK5, ARHGAP39
+74 more
Copy number loss
See cases
GBenign
BOP1, CCDC166
+87 more
Copy number loss
See cases
GPathogenic
AARD, ABRA
+3661 more
Copy number gain
See cases
GPathogenic
LOC105379224, LOC105379230
+3657 more
Copy number gain
See cases
GPathogenic
ADCK5, ADCY8
+567 more
Copy number gain
See cases
GPathogenic
ADCK5, ARHGAP39
+120 more
Copy number gain
See cases
GPathogenic
LOC130001070, LOC130001071
+962 more
Copy number gain
See cases
GPathogenic
LOC130001144, LOC130001145
+745 more
Copy number gain
See cases
GPathogenic
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