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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
ALKBH4, ARMC10
+149 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
ARMC10, DNAJC2
+19 more
Copy number gain
See cases
GLikely benign
ARMC10, ATXN7L1
+86 more
Copy number loss
See cases
GPathogenic
NAPEPLD
(D311N +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
NAPEPLD
(E382K +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
NAPEPLD
(E294Q +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
NAPEPLD
(S260F +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
NAPEPLD
(H252Q +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
NAPEPLD
(R314S +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
NAPEPLD
(P300R +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NAPEPLD
(G299A +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NAPEPLD
(A282T)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
NAPEPLD
(V272I)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
NAPEPLD
Single nucleotide variant
(synonymous variant +2 more)
not provided
GBenign
NAPEPLD
(C255F)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
NAPEPLD
(E235K)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
NAPEPLD
(M219V)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
NAPEPLD
(L213S)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
NAPEPLD
(N194S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NAPEPLD
(Y188C)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NAPEPLD
(E138D)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NAPEPLD
(M136T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NAPEPLD
(T134M)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NAPEPLD
(E122D)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NAPEPLD
(P115S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NAPEPLD
(S95T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NAPEPLD
(P68L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NAPEPLD
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
NAPEPLD
(G32R)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
NAPEPLD
(R29Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NAPEPLD
(S27L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NAPEPLD
(Q15R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NAPEPLD
(M11L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NFE4, POLR2J2
+11 more
Copy number loss
not provided
GUncertain significance
ARMC10, DNAJC2
+6 more
Copy number gain
not provided
GUncertain significance
AASS, ABCA13
+896 more
Copy number loss
See cases
GUncertain significance
CACNA2D1, CADPS2
+896 more
Complex
Ring chromosome 7
GPathogenic
ALKBH4, ANKRD7
+95 more
Copy number loss
not specified
GPathogenic
ACHE, ACTL6B
+123 more
Copy number loss
not specified
GPathogenic
ARMC10, NFE4
+6 more
Copy number gain
not provided
GUncertain significance
PRSS1, PRSS37
+896 more
Copy number gain
not provided
GPathogenic
ARMC10, DNAJC2
+9 more
Copy number gain
not provided
GUncertain significance
AASS, ABCB8
+436 more
Copy number gain
not provided
GPathogenic
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
ARMC10, ASB4
+504 more
Inversion
Childhood apraxia of speech
GPathogenic
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