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Items: 63

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
DPYSL2, DUSP26
+1020 more
Copy number gain
See cases
GPathogenic
LOC130000106, LOC130000107
+937 more
Copy number gain
See cases
GPathogenic
LOC130000241, LOC130000242
+934 more
Copy number gain
See cases
GPathogenic
LOC129999967, LOC129999968
+870 more
Copy number gain
See cases
GPathogenic
KAT6A-AS1, KCNU1
+929 more
Copy number gain
See cases
GPathogenic
LOC130000074, LOC130000075
+929 more
Copy number gain
See cases
GPathogenic
ADAM18, ADAM2
+870 more
Copy number gain
See cases
GPathogenic
LOC124153144, LOC124153145
+818 more
Copy number gain
See cases
GPathogenic
LOC113788268, LOC113788269
+929 more
Copy number gain
See cases
GPathogenic
LOC130000303, LOC130000304
+922 more
Copy number gain
See cases
GPathogenic
LOC113788272, LOC113788273
+807 more
Copy number gain
See cases
GPathogenic
LOC130000012, LOC130000013
+857 more
Copy number gain
See cases
GPathogenic
ADAM18, ADAM2
+922 more
Copy number gain
See cases
GPathogenic
LOC130000050, LOC130000051
+791 more
Copy number gain
See cases
GPathogenic
ADAM18, ADAM2
+922 more
Copy number gain
See cases
GPathogenic
LOC130000309, LOC130000310
+900 more
Copy number gain
See cases
GPathogenic
LOC129999966, LOC129999967
+3111 more
Copy number gain
See cases
GPathogenic
LOC130000135, LOC130000136
+593 more
Copy number gain
See cases
GPathogenic
ADAM18, ADAM2
+288 more
Copy number loss
See cases
GPathogenic
ADAM18, ADAM2
+419 more
Copy number gain
See cases
GPathogenic
ADAM18, ADAM2
+276 more
Copy number loss
See cases
GPathogenic
ADAM18, ADAM2
+543 more
Copy number gain
See cases
GPathogenic
ADGRA2, ADRB3
+53 more
Copy number loss
Hypogonadotropic hypogonadism 2 with or without anosmia
GPathogenic
ADAM18, ADAM2
+180 more
Copy number gain
See cases
GPathogenic
ADAM32, ADAM9
+79 more
Copy number loss
See cases
GPathogenic
ADAM18, ADAM2
+98 more
Copy number loss
See cases
GPathogenic
ADAM18, ADAM2
+81 more
Copy number loss
See cases
GPathogenic
LINC03042
Single nucleotide variant
not provided
GBenign
ADAM18, ADAM2
+150 more
Copy number gain
not specified
GPathogenic
ADAM18, ADAM2
+44 more
Copy number gain
not specified
GUncertain significance
ADAM18, ADAM2
+44 more
Copy number gain
not specified
GUncertain significance
ADAM18, ADAM2
+234 more
Copy number gain
not specified
GPathogenic
PREX2, PRKDC
+240 more
Copy number gain
not specified
GPathogenic
AARD, ABRA
+665 more
Copy number gain
not specified
GPathogenic
ADAM18, ADAM2
+176 more
Copy number gain
not provided
GPathogenic
ADAM28, ADAM7
+145 more
Copy number gain
not provided
GPathogenic
SMIM18, SORBS3
+225 more
Copy number gain
not provided
GPathogenic
ADAM18, ADAM2
+180 more
Duplication
not provided
GPathogenic
NKX6-3, PPDPFL
+64 more
Copy number gain
See cases
GPathogenic
ADAM9, DDHD2
+9 more
Duplication
Hereditary spastic paraplegia 54
GUncertain significance
ADAM9, ADGRA2
+21 more
Duplication
Spastic paraplegia
+3 more
GUncertain significance
CDCA2, CLDN23
+250 more
Complex
See cases
GPathogenic
ADAMDEC1, ADGRA2
+251 more
Complex
8p inverted duplication/deletion syndrome
GPathogenic
AARD, ABRA
+665 more
Copy number gain
Polydactyly
GPathogenic
ADGRA2, ADRB3
+18 more
Copy number loss
not specified
GLikely pathogenic
ADAM9, ADGRA2
+21 more
Deletion
not provided
GPathogenic
SPAG11A, STMN4
+252 more
Copy number gain
Abnormal fetal cardiovascular morphology
GPathogenic
ADAM18, ADAM2
+54 more
Copy number gain
not provided
GUncertain significance
BAALC, CNOT7
+665 more
Copy number gain
not provided
GPathogenic
HSF1, HTRA4
+474 more
Copy number gain
not provided
GPathogenic
AARD, ABRA
+593 more
Copy number gain
See cases
GPathogenic
ADAM18, ADAM2
+186 more
Copy number gain
See cases
GPathogenic
ADAM18, ADAM28
+151 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+665 more
Copy number gain
See cases
GPathogenic
FGF20, FGFR1
+665 more
Copy number gain
See cases
GPathogenic
SCRT1, SCX
+665 more
Copy number gain
See cases
GPathogenic
ADAM18, ADAM2
+180 more
Copy number gain
See cases
GPathogenic
ADAM18, ADAM2
+133 more
Copy number gain
See cases
GUncertain significance
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