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Links from Gene

Items: 27

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TIPRL
(K148N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC129931881, TIPRL
(A31T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TIPRL
(T133A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABL2, ACBD6
+123 more
Copy number loss
not specified
GPathogenic
ADCY10, ALDH9A1
+81 more
Copy number loss
not provided
GPathogenic
TIPRL
(M82V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADCY10, CD247
+9 more
Duplication
Immunodeficiency 25
GUncertain significance
TIPRL
(D38N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TIPRL
(V174I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TIPRL
(S169R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADCY10, ATP1B1
+39 more
Copy number loss
not specified
GPathogenic
ADCY10, ALDH9A1
+62 more
Copy number loss
not specified
GPathogenic
ADCY10, DCAF6
+4 more
Copy number loss
not provided
GUncertain significance
FCGR3A, LCE3C
+956 more
Duplication
Parathyroid carcinoma
+2 more
GUncertain significance
STYXL2, GPR161
+30 more
Copy number loss
not provided
GLikely pathogenic
METTL13, METTL18
+60 more
Copy number loss
not provided
GPathogenic
ADCY10, ALDH9A1
+30 more
Copy number loss
not provided
GPathogenic
ADCY10, ALDH9A1
+137 more
Copy number loss
not provided
GPathogenic
CD34, CD46
+2014 more
Copy number gain
See cases
GPathogenic
GPATCH2, GPATCH3
+2014 more
Copy number gain
See cases
GPathogenic
SUCO, TADA1
+147 more
Copy number loss
See cases
GPathogenic
LOC129931453, LOC129931454
+1585 more
Copy number gain
See cases
GPathogenic
LOC129388624, LOC129388625
+407 more
Copy number loss
See cases
GPathogenic
ADCY10, ANKRD45
+332 more
Copy number loss
See cases
GPathogenic
ADCY10, ALDH9A1
+406 more
Copy number loss
See cases
GPathogenic
FAM163A, FAM20B
+482 more
Copy number gain
See cases
GPathogenic
ADAMTS4, ADCY10
+775 more
Copy number gain
See cases
GPathogenic
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