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Links from Gene

Items: 34

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CAB39
(K10R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AAMP, ABCB6
+218 more
Copy number gain
See cases
GPathogenic
CAB39
(I303M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CAB39
(T288M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CAB39
(M50V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACKR3, AGAP1
+79 more
Copy number gain
not provided
GPathogenic
AAMP, ABCB6
+208 more
Copy number gain
not provided
GPathogenic
CHRND, LRRFIP1
+123 more
Duplication
not provided
GPathogenic
ABCA12, ABCB11
+1216 more
Copy number gain
Mosaic trisomy 2
GPathogenic
CAB39, DNER
+11 more
Copy number loss
not specified
GPathogenic
ALPG, ALPI
+61 more
Copy number loss
not specified
GPathogenic
ACSL3, AGFG1
+40 more
Copy number loss
not specified
GPathogenic
FBXO36, UGT1A5
+147 more
Copy number loss
not specified
GPathogenic
SPATA3, UGT1A3
+54 more
Duplication
Perlman syndrome
+1 more
GUncertain significance
AAMP, ABCA12
+384 more
Copy number gain
See cases
GPathogenic
ACKR3, AGAP1
+119 more
Copy number gain
not provided
GPathogenic
CTDSP1, NGEF
+197 more
Copy number gain
See cases
GPathogenic
ABCB6, ACKR3
+183 more
Copy number gain
not provided
GPathogenic
C2orf72, CAB39
+13 more
Copy number loss
not specified
GUncertain significance
RGPD4, RGPD5
+1214 more
Copy number gain
See cases
GPathogenic
IL1F10, IL1R1
+1214 more
Copy number gain
See cases
GPathogenic
UGT1A8, UGT1A9
+113 more
Copy number gain
See cases
GPathogenic
AAMP, ABCA12
+225 more
Copy number gain
See cases
GPathogenic
LOC110120629, LOC110120691
+986 more
Copy number gain
See cases
GPathogenic
AAMP, ABCA12
+1687 more
Copy number gain
See cases
GPathogenic
LOC126806558, LOC126806559
+309 more
Copy number gain
See cases
GPathogenic
AAMP, ABCA12
+1148 more
Copy number gain
See cases
GPathogenic
LOC132088828, LOC132088829
+576 more
Copy number gain
See cases
GPathogenic
LOC129935966, LOC129935967
+630 more
Copy number gain
See cases
GPathogenic
LOC129935726, LOC129935727
+1665 more
Copy number gain
See cases
GPathogenic
LOC129935343, LOC129935344
+1703 more
Copy number gain
See cases
GPathogenic
CCL20, CHRND
+347 more
Copy number loss
See cases
GPathogenic
ACKR3, AGAP1
+393 more
Copy number loss
See cases
GPathogenic
LOC129935713, LOC129935714
+1299 more
Copy number gain
See cases
GPathogenic
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