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Links from Gene

Items: 29

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CAPS2, GLIPR1L1
(G46S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CAPS2, GLIPR1L1
(V153A)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ACSS3, ATXN7L3B
+23 more
Copy number loss
not specified
GUncertain significance
ACSS3, ALX1
+43 more
Copy number loss
not specified
GPathogenic
CAPS2, GLIPR1L1
(P182L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CAPS2, GLIPR1L1
(A52T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CAPS2, GLIPR1L1
(V184L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CAPS2, GLIPR1
+12 more
Copy number gain
Anomalous pulmonary venous return
GUncertain significance
CAPS2, GLIPR1L1
(F77S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CAPS2, GLIPR1L1
(G175R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CAPS2, GLIPR1L1
(D61G)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CAPS2, GLIPR1L1
(C135Y)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CAPS2, GLIPR1L1
(E187A)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CAPS2, GLIPR1L1
(M155V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CAPS2, GLIPR1
+4 more
Copy number gain
not provided
GUncertain significance
CAPS2, GLIPR1
+4 more
Copy number gain
not specified
GUncertain significance
CAPS2, GLIPR1
+4 more
Copy number gain
not provided
GUncertain significance
TBC1D15, THAP2
+25 more
Copy number loss
not provided
GPathogenic
GLIPR1, GLIPR1L1
+4 more
Copy number gain
not provided
GUncertain significance
SLC15A5, SLC16A7
+1006 more
Copy number gain
See cases
GPathogenic
A2M, A2ML1
+1006 more
Copy number gain
See cases
GPathogenic
GALNT8, H2AJ
+1007 more
Copy number gain
See cases
GPathogenic
ACSS3, ALX1
+287 more
Copy number loss
See cases
GPathogenic
CAPS2, GLIPR1
+12 more
Copy number gain
See cases
GUncertain significance
FERRY3, FGD4
+4837 more
Copy number gain
See cases
GPathogenic
ATXN7L3B, BBS10
+126 more
Copy number loss
See cases
GPathogenic
LOC130008261, LOC130008262
+142 more
Copy number loss
See cases
GLikely pathogenic
CAPS2, GLIPR1
+12 more
Copy number gain
See cases
GUncertain significance
ACSS3, ATXN7L3B
+164 more
Copy number loss
See cases
GPathogenic
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