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Items: 1 to 100 of 154

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129993645, LOC129993646
+419 more
Copy number loss
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome
GPathogenic
LOC129993633, LOC129993634
+532 more
Copy number loss
See cases
GPathogenic
LOC129993624, LOC129993625
+559 more
Copy number loss
See cases
GPathogenic
ADAMTS16, ADAMTS16-DT
+553 more
Copy number loss
See cases
GPathogenic
LOC129993692, LOC129993693
+561 more
Copy number loss
See cases
GPathogenic
ADAMTS16, ADAMTS16-DT
+478 more
Copy number loss
See cases
GPathogenic
ADAMTS12, ADAMTS16
+697 more
Copy number loss
See cases
GPathogenic
ACTBL2, ADAMTS12
+1445 more
Copy number gain
See cases
GPathogenic
LOC126807323, LOC126807324
+530 more
Copy number loss
See cases
GPathogenic
ADAMTS16, ADAMTS16-DT
+537 more
Copy number loss
See cases
GPathogenic
LOC132090721, LOC132090722
+556 more
Copy number loss
See cases
GPathogenic
ADAMTS16, ADAMTS16-DT
+384 more
Copy number loss
See cases
GPathogenic
LOC126807286, LOC126807287
+384 more
Copy number loss
See cases
GPathogenic
ADAMTS16, ADAMTS16-DT
+542 more
Copy number gain
See cases
GPathogenic
LOC108254683, LOC110120635
+559 more
Copy number gain
See cases
GPathogenic
ADAMTS16, ADAMTS16-DT
+561 more
Copy number loss
See cases
GPathogenic
ADAMTS16, ADAMTS16-DT
+559 more
Copy number loss
See cases
GPathogenic
LOC112997550, LOC112997551
+462 more
Copy number gain
See cases
GPathogenic
ADAMTS16, ADAMTS16-DT
+473 more
Copy number loss
See cases
GPathogenic
ADAMTS16, ADAMTS16-DT
+606 more
Copy number loss
See cases
GPathogenic
LOC126807328, LOC126807329
+559 more
Copy number loss
See cases
GPathogenic
ADAMTS16, ADAMTS16-DT
+388 more
Copy number loss
See cases
GPathogenic
ADAMTS16, ADAMTS16-DT
+642 more
Copy number gain
See cases
GPathogenic
LOC129993561, LOC129993562
+552 more
Copy number loss
See cases
GPathogenic
ADAMTS16, ADAMTS16-DT
+318 more
Copy number loss
See cases
GPathogenic
LOC129993559, LOC129993560
+384 more
Copy number loss
See cases
GPathogenic
ADAMTS16, ADAMTS16-DT
+538 more
Copy number loss
See cases
GPathogenic
LOC129993643, LOC129993644
+521 more
Copy number loss
See cases
GPathogenic
ADAMTS16, ADAMTS16-DT
+461 more
Copy number loss
See cases
GPathogenic
ADAMTS16, ADAMTS16-DT
+574 more
Copy number loss
See cases
GPathogenic
ADAMTS12, ADAMTS16
+953 more
Copy number gain
See cases
GPathogenic
ADAMTS16, ADAMTS16-DT
+461 more
Copy number loss
See cases
GPathogenic
LINC02116, LINC02120
+696 more
Copy number gain
See cases
GPathogenic
ADAMTS12, ADAMTS16
+952 more
Copy number gain
See cases
GPathogenic
ADAMTS16, ADAMTS16-DT
+443 more
Copy number loss
See cases
GPathogenic
ADAMTS16, ADAMTS16-DT
+300 more
Copy number loss
See cases
GPathogenic
ADAMTS12, ADAMTS16
+657 more
Copy number loss
See cases
GPathogenic
ADAMTS16, ADAMTS16-DT
+161 more
Copy number gain
See cases
GPathogenic
LOC129993721, LOC129993722
+334 more
Copy number loss
See cases
GPathogenic
ADAMTS16, ADAMTS16-DT
+91 more
Copy number gain
See cases
GPathogenic
ADAMTS12, ADAMTS16
+530 more
Copy number gain
See cases
GPathogenic
LOC126807306, LOC126807307
+304 more
Copy number loss
See cases
GPathogenic
ADCY2
(P27R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADCY2
(C39R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADCY2
(S41T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADCY2
(L46F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADCY2
(V64F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADCY2
Copy number gain
See cases
GBenign
ADCY2
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
ADCY2, CFAP90
+13 more
Copy number gain
See cases
GUncertain significance
ADCY2, ANKRD33B
+112 more
Copy number loss
See cases
GPathogenic
ADCY2
(Y342C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ADCY2, CFAP90
+12 more
Copy number gain
See cases
GUncertain significance
ADCY2
(V395M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADCY2
(D445Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADCY2
(F477Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADCY2
(Y497N)
Single nucleotide variant
(missense variant)
ADCY2-related disorder
GUncertain significance
ADCY2
(W501S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADCY2
Microsatellite
(intron variant)
not provided
GBenign
ADCY2
(V627I)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
ADCY2
(A634V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADCY2
(V645I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADCY2
(M663T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADCY2
(R679Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADCY2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ADCY2
(M693L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADCY2
(M693L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADCY2
(A694D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADCY2
(A694G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADCY2
(V695A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADCY2
(F696S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADCY2
(N697D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADCY2
(N697S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADCY2
Single nucleotide variant
(intron variant)
not provided
GBenign
ADCY2
Single nucleotide variant
(intron variant)
not provided
GBenign
ADCY2
(Y742H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADCY2
(M767L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADCY2
(R842Q)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
ADCY2
Single nucleotide variant
(synonymous variant)
not provided
GBenign
ADCY2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ADCY2
Single nucleotide variant
(synonymous variant)
not provided
GBenign
ADCY2
(Q961K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADCY2
(M968V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADCY2
(I1020T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADCY2
(G1035R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADCY2
(M1080V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADCY2
(V1089M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MRPL36, MTRR
+70 more
Copy number gain
not provided
GPathogenic
ADAMTS16, ADCY2
+49 more
Copy number loss
not provided
GPathogenic
ADAMTS16, ADCY2
+47 more
Copy number loss
not specified
GPathogenic
ADAMTS16, ADCY2
+33 more
Copy number loss
not specified
GPathogenic
ADAMTS16, ADCY2
+35 more
Copy number loss
not specified
GPathogenic
ADAMTS16, ADCY2
+61 more
Copy number loss
not specified
GPathogenic
ADAMTS16, ADCY2
+61 more
Copy number loss
not specified
GPathogenic
ADAMTS16, ADCY2
+66 more
Copy number loss
not specified
GPathogenic
ADAMTS16, ADCY2
+38 more
Copy number loss
not specified
GPathogenic
ADAMTS16, ADCY2
+67 more
Copy number loss
not specified
GPathogenic
ADAMTS16, ADCY2
+48 more
Copy number loss
not provided
GPathogenic
ADAMTS16, ADCY2
+62 more
Copy number loss
not provided
GPathogenic
ADAMTS16, ADCY2
+67 more
Copy number loss
not provided
GPathogenic
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