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Items: 99

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ADAM28, ADAM7
+979 more
Copy number gain
See cases
GPathogenic
LOC126860438, LOC126860439
+3663 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+3663 more
Copy number gain
See cases
GPathogenic
LOC130000099, LOC130000100
+1040 more
Copy number gain
See cases
GPathogenic
LOC130000032, LOC130000033
+1105 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
LOC129999950, LOC129999951
+996 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
LOC126860319, LOC126860320
+696 more
Copy number gain
See cases
GPathogenic
LOC130000106, LOC130000107
+937 more
Copy number gain
See cases
GPathogenic
ADAM28, ADAM7
+499 more
Copy number gain
See cases
GPathogenic
LOC132089588, LOC132089589
+510 more
Copy number loss
See cases
GPathogenic
LOC130000241, LOC130000242
+934 more
Copy number gain
See cases
GPathogenic
ADAM28, ADAM7
+665 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
TNFRSF10A, TNFRSF10A-DT
+705 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
LOC128772328, LOC129389957
+653 more
Copy number gain
See cases
GPathogenic
ADAM28, ADAM7
+567 more
Copy number loss
Microcephaly
GPathogenic
ADAM28, ADAM7
+567 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
ADAM28, ADAM7
+523 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
ADAM28, ADAM7
+532 more
Copy number loss
See cases
GPathogenic
LOC129999966, LOC129999967
+3111 more
Copy number gain
See cases
GPathogenic
ADRA1A, BNIP3L
+259 more
Copy number loss
See cases
GPathogenic
ADRA1A, BNIP3L
+259 more
Copy number loss
See cases
GPathogenic
LOC124153126, LOC124153127
+257 more
Copy number loss
See cases
GPathogenic
LOC130000135, LOC130000136
+593 more
Copy number gain
See cases
GPathogenic
ESCO2, PBK
(S321A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ESCO2, PBK
(R308H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ESCO2, PBK
(G287E +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ESCO2, PBK
(F266V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ESCO2, PBK
(E231D +1 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
PBK
(L191I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PBK
(T181A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PBK
(V173I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PBK
(Q159L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PBK
(A151E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PBK
(F138C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PBK
(C112Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PBK
(S76T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PBK
(C70R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PBK
(P53S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PBK
(S52F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC129389973, PBK
Single nucleotide variant
(synonymous variant)
not provided
GBenign
PBK
(P30L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAM18, ADAM2
+150 more
Copy number gain
not specified
GPathogenic
ADAM18, ADAM2
+234 more
Copy number gain
not specified
GPathogenic
PREX2, PRKDC
+240 more
Copy number gain
not specified
GPathogenic
ADAM28, ADAM7
+39 more
Copy number loss
not specified
GPathogenic
AARD, ABRA
+665 more
Copy number gain
not specified
GPathogenic
CCDC25, ESCO2
+1 more
Copy number loss
not provided
GUncertain significance
HR, MIR320A
+95 more
Copy number loss
not provided
GPathogenic
CCDC25, CLU
+4 more
Copy number gain
not provided
GUncertain significance
ADAM18, ADAM2
+176 more
Copy number gain
not provided
GPathogenic
ADAM28, ADAM7
+145 more
Copy number gain
not provided
GPathogenic
ADAM28, ADAM7
+140 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
CCDC25, CHRNA2
+18 more
Copy number gain
not provided
GUncertain significance
ADGRA2, ADRB3
+59 more
Copy number loss
not provided
GPathogenic
CDCA2, CLDN23
+250 more
Complex
See cases
GPathogenic
ADAM28, ADAM7
+180 more
Copy number loss
See cases
GPathogenic
ADAMDEC1, ADGRA2
+251 more
Complex
8p inverted duplication/deletion syndrome
GPathogenic
AARD, ABRA
+665 more
Copy number gain
Polydactyly
GPathogenic
CCDC25, CHRNA2
+13 more
Duplication
Autosomal dominant nocturnal frontal lobe epilepsy
GUncertain significance
SPAG11A, STMN4
+252 more
Copy number gain
Abnormal fetal cardiovascular morphology
GPathogenic
ADAM28, ADAM7
+104 more
Copy number gain
not provided
GLikely pathogenic
ADAM7, ADRA1A
+30 more
Copy number loss
not provided
GPathogenic
BAALC, CNOT7
+665 more
Copy number gain
not provided
GPathogenic
ADAM28, ADAM7
+124 more
Duplication
not provided
GLikely pathogenic
ADAM28, ADAM7
+123 more
Copy number gain
not provided
GLikely pathogenic
ADAM28, ADAM7
+124 more
Copy number gain
not provided
GPathogenic
ASAH1-AS1, ATP6V1B2
+129 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+593 more
Copy number gain
See cases
GPathogenic
ADAM18, ADAM2
+186 more
Copy number gain
See cases
GPathogenic
ADAM28, ADAM7
+123 more
Copy number gain
See cases
GPathogenic
CCDC25, DUSP4
+14 more
Copy number gain
See cases
GUncertain significance
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
LEPROTL1, LGI3
+109 more
Copy number loss
not provided
Gnot provided
ADRA1A, BNIP3L
+51 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
ADAM28, EXTL3
+73 more
Copy number gain
See cases
GPathogenic
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