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Links from Gene

Items: 24

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
IFI27L1, IGHA2
+182 more
Copy number gain
not provided
GPathogenic
CCNK, MIR376A1
+353 more
Copy number gain
not provided
GPathogenic
ASB2, ATXN3
+48 more
Copy number loss
not provided
GPathogenic
SYNE3, TC2N
+66 more
Duplication
not provided
GUncertain significance
ASB2, ATXN3
+42 more
Duplication
Achondrogenesis, type IA
GUncertain significance
ADSS1, AHNAK2
+185 more
Copy number gain
not provided
GPathogenic
OTUB2, PAPOLA
+80 more
Copy number gain
not provided
GLikely pathogenic
AREL1, ARF6
+447 more
Copy number gain
See cases
GPathogenic
PPP4R3A
(T143I +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GBenign
ASB2, ATXN3
+50 more
Copy number loss
not specified
GPathogenic
SERPINA10, SERPINA11
+74 more
Copy number loss
Deletion syndrome
GPathogenic
ATXN3, BAG5
+164 more
Copy number gain
not provided
GPathogenic
AK7, ASB2
+74 more
Copy number loss
not provided
GPathogenic
DGLUCY, CCDC88C
+3 more
Copy number gain
not provided
GUncertain significance
GTF2A1, GZMB
+624 more
Copy number gain
See cases
GPathogenic
ABCD4, ACOT1
+261 more
Copy number gain
See cases
GPathogenic
ABCD4, ABHD12B
+635 more
Copy number gain
See cases
GPathogenic
LOC126862060, LOC126862061
+3282 more
Copy number gain
See cases
GPathogenic
ADCK1, ADSS1
+1204 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
IGHD5-18, IGHD5-24
+881 more
Copy number gain
See cases
GPathogenic
LOC130056392, LOC130056393
+1073 more
Copy number gain
See cases
GPathogenic
ASB2, ATXN3
+201 more
Copy number loss
See cases
GPathogenic
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