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Links from Gene

Items: 54

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GPR85
(V102G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GPR85
(V150M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GPR85
(S16L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GPR85
(R69I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BMT2, DOCK4
+5 more
Copy number gain
not specified
GUncertain significance
GPR85
Copy number loss
not provided
GUncertain significance
TES, TFEC
+20 more
Copy number loss
not provided
GPathogenic
GPR85
(L59Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GPR85
(C357*)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
GPR85
(C64S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GPR85
(G319R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GPR85
(I166T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GPR85
(I11V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GPR85
(F135V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GPR85
(L121I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GPR85
(G267S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GPR85
(L18P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GPR85
(V303M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GPR85
(P55A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GPR85
(I115V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GPR85
(A124T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GPR85
(R127H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GPR85
(T198S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GPR85
(R177H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GPR85
(A330V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AASS, ABCA13
+896 more
Copy number loss
See cases
GUncertain significance
PPP1R3A, BMT2
+2 more
Copy number gain
See cases
GPathogenic
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
BMT2, DOCK4
+5 more
Copy number gain
not provided
GUncertain significance
GPR85
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
GPR85
Single nucleotide variant
(synonymous variant)
not provided
GBenign
BMT2, DOCK4
+8 more
Copy number loss
not provided
GUncertain significance
GPR85
Copy number loss
not provided
GUncertain significance
PRSS1, PRSS37
+896 more
Copy number gain
not provided
GPathogenic
ASZ1, BMT2
+34 more
Copy number loss
not provided
GPathogenic
BMT2, DOCK4
+7 more
Duplication
Neurodevelopmental disorder
GUncertain significance
AASS, ABCB8
+436 more
Copy number gain
not provided
GPathogenic
GPR85
Copy number loss
not provided
GUncertain significance
GPR85
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
BMT2, DOCK4
+9 more
Copy number loss
See cases
GPathogenic
AASS, ABCA13
+678 more
Deletion
Pleomorphic xanthoastrocytoma
GPathogenic
AASS, RNU2-1
+57 more
Copy number loss
See cases
GPathogenic
ARMC10, ASB4
+504 more
Inversion
Childhood apraxia of speech
GPathogenic
GPR85, HRAT17
+2 more
Copy number loss
See cases
GUncertain significance
ALKBH4, ANKRD7
+474 more
Copy number loss
See cases
GPathogenic
LOC123956257, LOC123956258
+2213 more
Copy number gain
See cases
GPathogenic
CUL1, CUX1
+4737 more
Copy number loss
See cases
GPathogenic
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