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Links from Gene

Items: 21

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
BATF
(P104R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NPC2, PGF
+25 more
Copy number loss
not provided
GUncertain significance
CCNK, MIR376A1
+353 more
Copy number gain
not provided
GPathogenic
BATF
(T100K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AREL1, ARF6
+447 more
Copy number gain
See cases
GPathogenic
BATF, FLVCR2
+1 more
Copy number gain
not provided
GUncertain significance
BATF, FLVCR2
+1 more
Copy number gain
not provided
GUncertain significance
ABCD4, ACOT2
+38 more
Copy number loss
not provided
GLikely pathogenic
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
ACOT6, ACYP1
+59 more
Deletion
Multiple skeletal anomalies
+3 more
GLikely pathogenic
LOC126862060, LOC126862061
+3282 more
Copy number gain
See cases
GPathogenic
ABCD4, ACOT1
+299 more
Copy number loss
See cases
GLikely pathogenic
ACYP1, BATF
+71 more
Copy number loss
See cases
GUncertain significance
LOC125048449, LOC125048450
+3277 more
Copy number gain
See cases
GPathogenic
SAMD15, SEL1L
+503 more
Copy number loss
See cases
GPathogenic
LOC130056651, LOC130056652
+1423 more
Copy number gain
See cases
GPathogenic
BATF, ERG28
+24 more
Copy number gain
See cases
GUncertain significance
ADCK1, AHSA1
+155 more
Copy number loss
See cases
GPathogenic
ABCD4, ACYP1
+227 more
Copy number loss
See cases
GPathogenic
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