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Items: 58

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129997450, LOC129997451
+1002 more
Copy number gain
See cases
GPathogenic
LOC129389719, LOC129389720
+866 more
Copy number gain
See cases
GPathogenic
LOC101929460, LOC102724087
+572 more
Copy number gain
See cases
GPathogenic
LOC129997640, LOC129997641
+564 more
Copy number loss
See cases
GPathogenic
ACAT2, AFDN
+549 more
Copy number loss
See cases
GPathogenic
IGF2R, KIF25
+540 more
Copy number loss
See cases
GPathogenic
SOD2, SOD2-OT1
+270 more
Copy number loss
See cases
GPathogenic
ACAT2, AIRN
+115 more
Copy number gain
See cases
GUncertain significance
LOC126859858, LOC126859859
+340 more
Copy number loss
See cases
GPathogenic
AFDN, AFDN-DT
+322 more
Copy number loss
See cases
GPathogenic
MAS1
(T15S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MAS1
(M40I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MAS1
(T67A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MAS1
(T67S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MAS1
(T71A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MAS1
(A76T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MAS1
(S99Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MAS1
(T124M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MAS1
(E129D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MAS1
(R141Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MAS1
(M170T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MAS1
(D173N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MAS1
(S178G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MAS1
(S180P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MAS1
(R181W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MAS1
(R181Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MAS1
(R185Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MAS1
(V212M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MAS1
(R215Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MAS1
(W219S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MAS1
(A241T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MAS1
(R245K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MAS1
(Y252C)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
MAS1
(H263R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MAS1
(S273N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MAS1
(F282S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MAS1
(V283E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MAS1
(R290K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MAS1
(D305N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MAS1
(M307T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MAS1
(M307R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MAS1
(R311C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MAS1
(V321D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MAS1
(V325I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC129997629, LOC129997630
+323 more
Copy number loss
See cases
GPathogenic
ACAT2, AFDN
+79 more
Copy number loss
See cases
GPathogenic
ACAT2, AFDN
+54 more
Copy number gain
not provided
GUncertain significance
LPA, MAP3K4
+26 more
Deletion
not provided
GPathogenic
MAS1, MRPL18
+33 more
Copy number loss
See cases
GPathogenic
ACAT2, AFDN
+55 more
Copy number loss
Hydrocephalus
GPathogenic
ACAT2, AGPAT4
+44 more
Copy number loss
not specified
GPathogenic
PNLDC1, ACAT2
+6 more
Copy number gain
not provided
GUncertain significance
ACAT2, AIRN
+27 more
Copy number gain
not provided
GUncertain significance
ACAT2, AFDN
+49 more
Copy number gain
not provided
GPathogenic
FNDC1, FRMD1
+86 more
Complex
Coffin-Siris syndrome 1
GPathogenic
AARS2, ABCC10
+1028 more
Copy number gain
See cases
GPathogenic
RING1, RIOK1
+1028 more
Copy number gain
See cases
GPathogenic
ACAT2, AFDN
+87 more
Copy number gain
See cases
GPathogenic
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