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Links from Gene

Items: 55

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ARL4C
(I150T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARL4C
(K53N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARL4C
(K53R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARL4C
(K53Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AAMP, ABCB6
+218 more
Copy number gain
See cases
GPathogenic
ACKR3, AGAP1
+60 more
Copy number loss
See cases
GPathogenic
ARL4C
(V124I)
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
ARL4C
(L54P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARL4C
(R183G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACKR3, AGAP1
+27 more
Copy number loss
not provided
GUncertain significance
CHRND, CHRNG
+93 more
Copy number loss
Chromosome 2q37 deletion syndrome
GPathogenic
ABCA12, ABCB11
+1216 more
Copy number gain
Mosaic trisomy 2
GPathogenic
AGAP1, ARL4C
+15 more
Copy number loss
not specified
GUncertain significance
ARL4C, DNAJB3
+15 more
Copy number loss
not specified
GUncertain significance
ALPG, ALPI
+44 more
Copy number loss
not specified
GLikely pathogenic
ALPG, ALPI
+61 more
Copy number loss
not specified
GPathogenic
FBXO36, UGT1A5
+147 more
Copy number loss
not specified
GPathogenic
AAMP, ABCA12
+384 more
Copy number gain
See cases
GPathogenic
DTYMK, DUSP28
+96 more
Copy number loss
Chromosome 2q37 deletion syndrome
GPathogenic
ARL4C
Copy number gain
not provided
GUncertain significance
ACKR3, AGAP1
+63 more
Copy number loss
not provided
GPathogenic
RAB17, ASB1
+41 more
Copy number loss
not provided
GPathogenic
ACKR3, AGAP1
+119 more
Copy number gain
not provided
GPathogenic
ARL4C
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GBenign
CTDSP1, NGEF
+197 more
Copy number gain
See cases
GPathogenic
ABCB6, ACKR3
+183 more
Copy number gain
not provided
GPathogenic
ACKR3, AGAP1
+65 more
Copy number gain
not provided
GPathogenic
ACKR3, AGAP1
+74 more
Copy number loss
See cases
GPathogenic
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
ACKR3, AGAP1
+82 more
Copy number loss
See cases
GPathogenic
LOC129935965, LOC129935966
+455 more
Copy number loss
See cases
GPathogenic
LOC110120629, LOC110120691
+986 more
Copy number gain
See cases
GPathogenic
AAMP, ABCA12
+1687 more
Copy number gain
See cases
GPathogenic
LOC132090688, LOC132090689
+325 more
Copy number loss
See cases
GPathogenic
GBX2, GBX2-AS1
+180 more
Copy number loss
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
LOC126806577, LOC126806578
+334 more
Copy number loss
See cases
GPathogenic
RAB17-DT, RAMP1
+359 more
Copy number loss
See cases
GPathogenic
ACKR3, AGAP1
+361 more
Copy number loss
See cases
GPathogenic
CCL20, CHRND
+347 more
Copy number loss
See cases
GPathogenic
ACKR3, AGAP1
+393 more
Copy number loss
See cases
GPathogenic
HDAC4, HDAC4-AS1
+334 more
Copy number loss
See cases
GPathogenic
LOC129935713, LOC129935714
+1299 more
Copy number gain
See cases
GPathogenic
ACKR3, AGAP1
+455 more
Copy number loss
See cases
GPathogenic
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