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Links from Gene

Items: 38

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CRYBB2, CRYBB3
+2 more
Copy number gain
not provided
GUncertain significance
GRK3
(R182W +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GRK3
(Y112C)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
GRK3
(H307Y +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GRK3
(T54S)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
CRYBB2, CRYBB3
+2 more
Duplication
not provided
GUncertain significance
GRK3
Copy number gain
not provided
GLikely benign
A4GALT, ACO2
+438 more
Copy number gain
See cases
GPathogenic
RTN4R, SCARF2
+124 more
Copy number gain
Cat eye syndrome
+1 more
GPathogenic
GGT1, DDT
+19 more
Copy number gain
See cases
GUncertain significance
GRK3
Copy number gain
not provided
GLikely benign
HIC2, HIRA
+133 more
Copy number gain
not provided
GPathogenic
GRK3
Single nucleotide variant
(synonymous variant)
not provided
GBenign
TUBA8, TUBGCP6
+435 more
Copy number gain
not provided
GPathogenic
ADORA2A, AP1B1
+129 more
Copy number gain
not provided
GPathogenic
MYO18B, GRK3
Copy number loss
not provided
GUncertain significance
ADORA2A, AP1B1
+131 more
Copy number gain
See cases
GPathogenic
ANKRD54, AP1B1
+435 more
Copy number gain
See cases
GPathogenic
NEFH, NF2
+435 more
Copy number gain
See cases
GPathogenic
ADORA2A, CRYBB2
+12 more
Copy number gain
not provided
Gnot provided
ZNF280A, ZNF280B
+438 more
Copy number gain
See cases
GPathogenic
SMARCB1, SMC1B
+438 more
Copy number gain
See cases
GPathogenic
A4GALT, ACO2
+438 more
Copy number gain
See cases
GPathogenic
ADA2, ADORA2A
+135 more
Copy number gain
See cases
GPathogenic
GRK3
Duplication
Large for gestational age
Gnot provided
GRK3, GRK3-AS1
+14 more
Copy number loss
See cases
GLikely benign
GRK3, GRK3-AS1
+14 more
Copy number gain
See cases
GLikely benign
GRK3, GRK3-AS1
+14 more
Copy number gain
See cases
GLikely benign
LOC130067187, LOC130067188
+556 more
Copy number gain
See cases
GPathogenic
ADORA2A, ADORA2A-AS1
+823 more
Copy number gain
See cases
GPathogenic
GRK3, GRK3-AS1
+14 more
Copy number loss
See cases
GLikely benign
CRYBB2, CRYBB3
+35 more
Copy number gain
See cases
GLikely benign
ASPHD2, CPMER
+85 more
Copy number loss
See cases
GUncertain significance
LOC130067151, LOC130067152
+119 more
Copy number loss
See cases
GLikely pathogenic
LOC130067403, LOC130067404
+2088 more
Copy number gain
See cases
GPathogenic
GRK3, LOC126863103
+3 more
Copy number gain
See cases
GBenign
IL17RA, LINC01640
+2088 more
Copy number gain
See cases
GPathogenic
ADORA2A, ADORA2A-AS1
+798 more
Copy number gain
See cases
GPathogenic
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