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Items: 52

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CUL1, CUX1
+4737 more
Copy number loss
See cases
GPathogenic
LOC123956257, LOC123956258
+2213 more
Copy number gain
See cases
GPathogenic
AASS, ANKRD7
+248 more
Copy number loss
See cases
GPathogenic
AASS, ANKRD7
+253 more
Copy number loss
See cases
GPathogenic
AASS, ABCB8
+1547 more
Copy number gain
See cases
GPathogenic
LOC129999373, LOC129999374
+492 more
Copy number loss
See cases
GPathogenic
AASS, ABCB8
+1380 more
Copy number gain
See cases
GPathogenic
AASS, ARF5
+163 more
Copy number loss
See cases
GPathogenic
ASB15, ASB15-AS1
+20 more
Copy number gain
See cases
GUncertain significance
ASB15, ASB15-AS1
+20 more
Copy number gain
See cases
GUncertain significance
ASB15, ASB15-AS1
+20 more
Copy number gain
See cases
GUncertain significance
ARF5, FSCN3
+60 more
Copy number loss
See cases
GLikely pathogenic
SPAM1
(P56R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPAM1
(R80Q)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
SPAM1
(D125V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPAM1
(G141R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPAM1
(P152T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPAM1
(L209F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPAM1
(L210I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPAM1
(P271S)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
SPAM1
(V278A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPAM1
(I291M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPAM1
(P299L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPAM1
(T304I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPAM1
(R305C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPAM1
(R305H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPAM1
(A333S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPAM1
(A333V)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
SPAM1
(I344M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPAM1
(L371P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPAM1
(F429L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPAM1
(D448N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPAM1
(C458R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPAM1
(A460V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPAM1
(M473I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPAM1
(M493I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AASS, AGBL3
+100 more
Copy number loss
not specified
GPathogenic
AASS, ABCA13
+896 more
Copy number loss
See cases
GUncertain significance
CACNA2D1, CADPS2
+896 more
Complex
Ring chromosome 7
GPathogenic
FEZF1, GPR37
+38 more
Deletion
Delayed speech and language development
GLikely pathogenic
PRRT4, PTPRZ1
+92 more
Copy number gain
not specified
GPathogenic
AASS, ANKRD7
+35 more
Copy number loss
Global developmental delay
+2 more
GPathogenic
SPAM1, HYAL4
+6 more
Copy number gain
not provided
GLikely benign
CHRM2, KRBA1
+295 more
Copy number gain
not provided
GPathogenic
PRSS1, PRSS37
+896 more
Copy number gain
not provided
GPathogenic
AASS, AHCYL2
+46 more
Copy number loss
not provided
GPathogenic
AASS, ABCB8
+436 more
Copy number gain
not provided
GPathogenic
LMOD2, IQUB
+6 more
Copy number gain
not provided
GLikely benign
AVL9, AZGP1
+896 more
Copy number gain
See cases
GPathogenic
MCM7, MDFIC
+896 more
Copy number gain
See cases
GPathogenic
AASS, ABCA13
+678 more
Deletion
Pleomorphic xanthoastrocytoma
GPathogenic
AASS, RNU2-1
+57 more
Copy number loss
See cases
GPathogenic
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