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Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
IGH, IGHA1
+5 more
Copy number loss
See cases
GBenign
FAM30A, IGH
+52 more
Copy number loss
See cases
GBenign
LOC126862060, LOC126862061
+3282 more
Copy number gain
See cases
GPathogenic
LOC125048449, LOC125048450
+3277 more
Copy number gain
See cases
GPathogenic
LOC130056651, LOC130056652
+1423 more
Copy number gain
See cases
GPathogenic
ADCK1, ADSS1
+1204 more
Copy number gain
See cases
GPathogenic
LOC130056392, LOC130056393
+1073 more
Copy number gain
See cases
GPathogenic
IGHD5-18, IGHD5-24
+881 more
Copy number gain
See cases
GPathogenic
LOC130056380, LOC130056381
+755 more
Copy number loss
See cases
GPathogenic
LOC130056535, LOC130056536
+671 more
Copy number gain
See cases
GPathogenic
LOC130056672, LOC130056673
+667 more
Copy number loss
See cases
GPathogenic
LOC130056604, LOC130056605
+654 more
Copy number gain
See cases
GPathogenic
ADSS1, AHNAK2
+632 more
Copy number loss
See cases
GPathogenic
MIR493, MIR494
+530 more
Copy number gain
See cases
GPathogenic
ADSS1, AHNAK2
+582 more
Copy number loss
See cases
GPathogenic
LOC130056480, LOC130056481
+571 more
Copy number loss
See cases
GPathogenic
IGHV1-46, IGHV1-58
+561 more
Copy number loss
See cases
GPathogenic
MIR6765, MIR8071-1
+441 more
Copy number loss
See cases
GPathogenic
ADSS1, AHNAK2
+416 more
Copy number loss
See cases
GPathogenic
ADSS1, AHNAK2
+397 more
Copy number loss
See cases
GPathogenic
LOC130056644, LOC130056645
+397 more
Copy number loss
Neurodevelopmental disorder
GPathogenic
ADSS1, AHNAK2
+367 more
Copy number loss
See cases
GPathogenic
ADSS1, AHNAK2
+304 more
Copy number gain
See cases
GPathogenic
ADSS1, AHNAK2
+256 more
Copy number loss
See cases
GPathogenic
ADSS1, AHNAK2
+256 more
Copy number loss
See cases
GPathogenic
ADSS1, AHNAK2
+241 more
Copy number loss
See cases
GPathogenic
ADSS1, AHNAK2
+216 more
Copy number loss
See cases
GUncertain significance
AHNAK2, BRF1
+185 more
Copy number loss
See cases
GUncertain significance
IGHV1-46, IGHV1-58
+174 more
Copy number loss
See cases
GPathogenic
BRF1, BTBD6
+156 more
Copy number loss
See cases
GUncertain significance
LOC130056686, LOC130056687
+156 more
Copy number loss
See cases
GUncertain significance
BRF1, BTBD6
+154 more
Copy number loss
See cases
GUncertain significance
BRF1, BTBD6
+152 more
Copy number gain
See cases
GUncertain significance
CRIP1, CRIP2
+127 more
Copy number loss
See cases
GPathogenic
FAM30A, IGH
+105 more
Copy number gain
See cases
GPathogenic
ADSS1, AHNAK2
+70 more
Copy number loss
not provided
GPathogenic
BRF1, BTBD6
+22 more
Copy number gain
See cases
GUncertain significance
CLBA1, COA8
+65 more
Copy number loss
not specified
GPathogenic
IGHV3-23, INF2
+91 more
Copy number loss
not provided
GPathogenic
CDCA4, IGHA2
+32 more
Copy number gain
not provided
GUncertain significance
IFI27L1, IGHA2
+182 more
Copy number gain
not provided
GPathogenic
CCNK, MIR376A1
+353 more
Copy number gain
not provided
GPathogenic
ADSS1, AHNAK2
+50 more
Copy number loss
not provided
GPathogenic
ADSS1, AHNAK2
+185 more
Copy number gain
not provided
GPathogenic
AREL1, ARF6
+447 more
Copy number gain
See cases
GPathogenic
PACS2, PLD4
+67 more
Copy number loss
not specified
GPathogenic
BRF1, AHNAK2
+62 more
Copy number loss
not provided
GPathogenic
KIF26A, KLC1
+112 more
Copy number loss
See cases
GPathogenic
IGHA2, CEP170B
+27 more
Copy number loss
not provided
GPathogenic
ZBTB42, ADSS1
+34 more
Copy number loss
not provided
GPathogenic
RCOR1, TNFAIP2
+56 more
Copy number loss
not provided
GPathogenic
ADSS1, AHNAK2
+104 more
Copy number gain
not provided
GPathogenic
ATXN3, BAG5
+164 more
Copy number gain
not provided
GPathogenic
INF2, JAG2
+67 more
Copy number loss
not provided
GPathogenic
ADSS1, AHNAK2
+33 more
Copy number loss
not provided
GUncertain significance
ADSS1, AHNAK2
+58 more
Copy number loss
not provided
GPathogenic
BAG5, MIR380
+98 more
Copy number gain
not provided
GPathogenic
IGHG1, IGH
+10 more
Copy number loss
not provided
GLikely benign
GTF2A1, GZMB
+624 more
Copy number gain
See cases
GPathogenic
ADSS1, AHNAK2
+96 more
Copy number loss
See cases
GPathogenic
ADSS1, AHNAK2
+34 more
Copy number loss
See cases
GPathogenic
ADSS1, AHNAK2
+49 more
Copy number loss
See cases
GPathogenic
ABCD4, ACOT1
+261 more
Copy number gain
See cases
GPathogenic
ADSS1, AHNAK2
+56 more
Copy number loss
See cases
GPathogenic
CRIP1, CRIP2
+17 more
Copy number loss
See cases
GUncertain significance
ADSS1, AHNAK2
+62 more
Copy number loss
See cases
GPathogenic
BRF1, BTBD6
+20 more
Copy number gain
See cases
GLikely benign
ABCD4, ABHD12B
+635 more
Copy number gain
See cases
GPathogenic
IGH, IGHA1
+6 more
Copy number gain
Premature ovarian failure
GBenign
IGH, IGHA1
+10 more
Duplication
Normal pregnancy
Gnot provided
CRIP1, IGH
+13 more
Duplication
Gestational diabetes mellitus uncontrolled
Gnot provided
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