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Items: 93

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
ABCA7, ABHD17A
+429 more
Copy number gain
See cases
GPathogenic
ABCA7, ABHD17A
+301 more
Copy number gain
See cases
GPathogenic
ABCA7, ABHD17A
+453 more
Copy number gain
See cases
GLikely pathogenic
ABCA7, ARHGAP45
+168 more
Copy number gain
See cases
GPathogenic
ABCA7, ARHGAP45
+136 more
Copy number loss
See cases
GPathogenic
ARID3A, CFD
+27 more
Copy number loss
See cases
GPathogenic
ARID3A
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
ARID3A
(G37S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARID3A
(R38W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARID3A
(R38Q)
Single nucleotide variant
(missense variant)
EBV-positive nodal T- and NK-cell lymphoma
GLikely benign
ARID3A
(R40Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARID3A
(P43S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARID3A
(D44N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARID3A
(R53Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARID3A
(R56W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARID3A
(G79C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARID3A
(G79S)
Single nucleotide variant
(missense variant)
not provided
GBenign
ARID3A
(P86S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARID3A
(S88L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARID3A
(A93T)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
ARID3A
(R95Q)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
ARID3A
(P99L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARID3A
(E121K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARID3A
(E128K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARID3A
(G137R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARID3A
(D155N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARID3A
(R184C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARID3A
(G193W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARID3A
(R197W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARID3A
(R197Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARID3A
(P198L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARID3A
(P205S)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
ARID3A
(G206R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARID3A
(G221D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARID3A
(E226*)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
LOC130062906, LOC130062907
+222 more
Copy number loss
See cases
GPathogenic
ARID3A
(K242R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARID3A
(N290K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARID3A
Single nucleotide variant
(intron variant)
not provided
GBenign
ARID3A
(Y361C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARID3A
(I391L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARID3A
(R412H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARID3A
(A418V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARID3A
(V430L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARID3A
Single nucleotide variant
(synonymous variant)
not provided
GBenign
ARID3A
(P459L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARID3A
(R472W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARID3A
(R472Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARID3A
(Q479R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARID3A
Single nucleotide variant
(synonymous variant)
not provided
GBenign
ARID3A
(E501K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARID3A
(R503C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARID3A
(T511M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARID3A
(N514S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARID3A
Single nucleotide variant
(synonymous variant)
not provided
GBenign/Likely benign
ARID3A
(V523M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARID3A
(T542M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARID3A
(G551D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARID3A
Single nucleotide variant
(synonymous variant)
not provided
GBenign
ABCA7, ARHGAP45
+14 more
Copy number loss
not provided
GPathogenic
ABCA7, ARHGAP45
+37 more
Copy number loss
not specified
GPathogenic
ABCA7, ARHGAP45
+34 more
Copy number gain
not specified
GUncertain significance
MBD3L3, MBD3L4
+202 more
Copy number gain
not provided
GPathogenic
TLE5, TLE6
+151 more
Duplication
not provided
GUncertain significance
ABCA7, ABHD17A
+61 more
Duplication
Neutropenia, severe congenital, 1, autosomal dominant
+1 more
GUncertain significance
ABCA7, ABHD17A
+138 more
Duplication
not provided
GUncertain significance
ABCA7, ABHD17A
+77 more
Copy number gain
See cases
GPathogenic
ATP5F1D, ARHGAP45
+43 more
Copy number loss
Peutz-Jeghers syndrome
GPathogenic
ABCA7, ARHGAP45
+14 more
Deletion
Peutz-Jeghers syndrome
GPathogenic
SBNO2, POLR2E
+14 more
Deletion
Peutz-Jeghers syndrome
GPathogenic
ABCA7, ARHGAP45
+35 more
Duplication
Cerebral creatine deficiency syndrome
GUncertain significance
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, ARHGAP45
+14 more
Deletion
Peutz-Jeghers syndrome
GPathogenic
CFD, CNN2
+14 more
Deletion
Peutz-Jeghers syndrome
GPathogenic
ABCA7, ARHGAP45
+14 more
Duplication
Peutz-Jeghers syndrome
GUncertain significance
ABCA7, ABHD17A
+102 more
Copy number gain
not provided
GPathogenic
ABCA7, ARHGAP45
+31 more
Copy number gain
not provided
GUncertain significance
NDUFS7, OAZ1
+100 more
Copy number gain
Seizure
+2 more
GLikely pathogenic
SBNO2, ABCA7
+14 more
Duplication
Peutz-Jeghers syndrome
GUncertain significance
ABCA7, ARHGAP45
+34 more
Copy number gain
not provided
GLikely pathogenic
PGLYRP1, PGLYRP2
+1364 more
Copy number gain
See cases
GPathogenic
TMC4, TMED1
+1364 more
Copy number gain
See cases
GPathogenic
ABCA7, ARHGAP45
+29 more
Copy number gain
See cases
GLikely benign
ABCA7, ABHD17A
+67 more
Copy number gain
See cases
GLikely pathogenic
ABCA7, ABHD17A
+87 more
Copy number gain
See cases
GPathogenic
ABCA7, ARHGAP45
+36 more
Copy number gain
See cases
GPathogenic
POLR2E, PRTN3
+16 more
Copy number gain
See cases
GUncertain significance
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