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Items: 86

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130063041, LOC130063042
+687 more
Copy number gain
See cases
GPathogenic
LOC130062978, LOC130062979
+903 more
Copy number gain
See cases
GPathogenic
LOC130062818, LOC130062819
+332 more
Copy number gain
See cases
GPathogenic
ABCA7, ABHD17A
+321 more
Copy number gain
See cases
GPathogenic
BSG, BSG-AS1
+74 more
Copy number gain
See cases
GPathogenic
ABCA7, ABHD17A
+429 more
Copy number gain
See cases
GPathogenic
ABCA7, ABHD17A
+301 more
Copy number gain
See cases
GPathogenic
C2CD4C, CIMAP1D
+7 more
Copy number gain
See cases
GLikely benign
SPMAP2
(Q374P +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPMAP2
(P332R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPMAP2
(R331H +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
SPMAP2
(R345L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPMAP2
(R321C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPMAP2
(K317N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPMAP2
(K304T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPMAP2
(D325V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPMAP2
(R296H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPMAP2
(P295S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPMAP2
(P291A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPMAP2
(K288N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPMAP2
(A284P +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPMAP2
(R275P +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPMAP2
(H269R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPMAP2
(T255P +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPMAP2
(R243W +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPMAP2
(S242L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPMAP2
(S229C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPMAP2
(S205L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPMAP2
(N187D +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPMAP2
(R199Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPMAP2
(L197V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPMAP2
(R169H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPMAP2
(R168C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPMAP2
(T160I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPMAP2
(T157P +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPMAP2
(R176G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPMAP2
(W168R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SPMAP2
(C165S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SPMAP2
(G149S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SPMAP2
(P134H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPMAP2
(P134T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPMAP2
(A132E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPMAP2
(M129T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPMAP2
(R127S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPMAP2
(R125Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPMAP2
(S108G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPMAP2
(I107M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPMAP2
(I107V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPMAP2
(I102T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPMAP2
(P100S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPMAP2
(D98H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPMAP2
(K93T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPMAP2
(L78R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPMAP2
(V69G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPMAP2
(E67K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPMAP2
(P66L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPMAP2
(P66H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPMAP2
(D59E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPMAP2
(R47L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPMAP2
(R47C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPMAP2
(R41Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPMAP2
(R40Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPMAP2
(E38K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPMAP2
(R30H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPMAP2
(R30C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPMAP2
(D28N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPMAP2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SPMAP2
(S21L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPMAP2
(R20W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPMAP2
(A18V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPMAP2
(A17T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPMAP2
(R6Q)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
ABCA7, ARHGAP45
+37 more
Copy number loss
not specified
GPathogenic
ABCA7, ARHGAP45
+34 more
Copy number gain
not specified
GUncertain significance
C2CD4C, CDC34
+8 more
Copy number loss
not provided
GUncertain significance
BSG, C2CD4C
+16 more
Copy number loss
not provided
GUncertain significance
MBD3L3, MBD3L4
+202 more
Copy number gain
not provided
GPathogenic
ATP5F1D, ARHGAP45
+43 more
Copy number loss
Peutz-Jeghers syndrome
GPathogenic
ABCA7, ABHD17A
+138 more
Copy number gain
See cases
GPathogenic
ADAMTSL5, PLEKHJ1
+106 more
Copy number gain
not provided
GPathogenic
ABCA7, ABHD17A
+147 more
Copy number gain
not provided
GPathogenic
ABCA7, ABHD17A
+102 more
Copy number gain
not provided
GPathogenic
NDUFS7, OAZ1
+100 more
Copy number gain
Seizure
+2 more
GLikely pathogenic
PGLYRP1, PGLYRP2
+1364 more
Copy number gain
See cases
GPathogenic
TMC4, TMED1
+1364 more
Copy number gain
See cases
GPathogenic
ABCA7, ABHD17A
+67 more
Copy number gain
See cases
GLikely pathogenic
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