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Items: 67

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC121740684, LOC121740685
+4735 more
Copy number loss
See cases
GPathogenic
LOC111674474, LOC111674475
+2212 more
Copy number gain
See cases
GPathogenic
ALKBH4, ARMC10
+292 more
Copy number loss
See cases
GPathogenic
ALKBH4, ANKRD7
+474 more
Copy number loss
See cases
GPathogenic
DUS4L, DUS4L-BCAP29
+92 more
Copy number loss
See cases
GPathogenic
DOCK4, DOCK4-AS1
+29 more
Duplication
Schizophrenia
GLikely pathogenic
IMMP2L, LOC129389844
+3 more
Copy number loss
See cases
GUncertain significance
IMMP2L, LOC129389844
+3 more
Copy number loss
See cases
GUncertain significance
IMMP2L, LOC129389844
+3 more
Copy number loss
See cases
GUncertain significance
IMMP2L, LRRN3
(D3Y)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IMMP2L, LRRN3
(P5T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IMMP2L, LRRN3
(R31W)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IMMP2L, LRRN3
(R31Q)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
IMMP2L, LRRN3
(D89N)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IMMP2L, LRRN3
(I110V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IMMP2L, LRRN3
(A159G)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IMMP2L, LRRN3
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
IMMP2L, LRRN3
(A231T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IMMP2L, LRRN3
(N261H)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IMMP2L, LRRN3
(R276Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IMMP2L, LRRN3
(E288Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IMMP2L, LRRN3
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
IMMP2L, LRRN3
(I354T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IMMP2L, LRRN3
(S364G)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IMMP2L, LRRN3
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
IMMP2L, LRRN3
(P400H)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IMMP2L, LRRN3
(R408W)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IMMP2L, LRRN3
(V410M)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IMMP2L, LRRN3
(M415V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IMMP2L, LRRN3
(E435A)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IMMP2L, LRRN3
(E453V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IMMP2L, LRRN3
(T495I)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IMMP2L, LRRN3
(A504T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IMMP2L, LRRN3
(M510T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IMMP2L, LRRN3
(I532L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IMMP2L, LRRN3
(R570Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IMMP2L, LRRN3
(K601I)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IMMP2L, LRRN3
(Q618P)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IMMP2L, LRRN3
(L633R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IMMP2L, LRRN3
(H659R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IMMP2L, LRRN3
(A672P)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IMMP2L, LRRN3
(G674C)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IMMP2L, LRRN3
(P679H)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IMMP2L, LRRN3
(T692K)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TES, TFEC
+20 more
Copy number loss
not provided
GPathogenic
AASS, ABCA13
+896 more
Copy number loss
See cases
GUncertain significance
CACNA2D1, CADPS2
+896 more
Complex
Ring chromosome 7
GPathogenic
PRRT4, PTPRZ1
+92 more
Copy number gain
not specified
GPathogenic
ALKBH4, ANKRD7
+95 more
Copy number loss
not specified
GPathogenic
ACHE, ACTL6B
+123 more
Copy number loss
not specified
GPathogenic
LRRN3, IMMP2L
Copy number gain
not provided
GUncertain significance
LSMEM1, BMT2
+9 more
Copy number gain
not provided
GLikely pathogenic
CHRM2, KRBA1
+295 more
Copy number gain
not provided
GPathogenic
TMEM168, LAMB4
+59 more
Copy number loss
not provided
GPathogenic
IMMP2L, LRRN3
Copy number loss
not provided
GUncertain significance
BMT2, DOCK4
+8 more
Copy number loss
not provided
GUncertain significance
PRSS1, PRSS37
+896 more
Copy number gain
not provided
GPathogenic
DNAJB9, DOCK4
+9 more
Copy number loss
not provided
GUncertain significance
ASZ1, BMT2
+34 more
Copy number loss
not provided
GPathogenic
AASS, ABCB8
+436 more
Copy number gain
not provided
GPathogenic
DOCK4, IFRD1
+5 more
Copy number gain
See cases
GUncertain significance
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
IMMP2L, LRRN3
Copy number loss
See cases
GLikely benign
ARMC10, ASB4
+504 more
Inversion
Childhood apraxia of speech
GPathogenic
LRRN3, IMMP2L
Deletion
Childhood apraxia of speech
GPathogenic
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