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Links from Gene

Items: 16

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PFDN5
(V72D +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PFDN5
(D78G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC112163607, PFDN5
(A102V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PFDN5
(V47A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AAAS, AMHR2
+19 more
Copy number gain
not specified
GUncertain significance
AAAS, AMHR2
+15 more
Copy number gain
not provided
GUncertain significance
PCBP2, SP7
+17 more
Copy number loss
not provided
GUncertain significance
AAAS, PCBP2
+13 more
Copy number loss
not provided
GLikely pathogenic
BICD1, HDAC7
+212 more
Inversion
not specified
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
LOC126861418, LOC126861419
+4838 more
Copy number gain
See cases
GPathogenic
AAAS, AMHR2
+85 more
Copy number gain
See cases
GLikely pathogenic
AAAS, AMHR2
+114 more
Copy number loss
See cases
GPathogenic
AAAS, AMHR2
+74 more
Copy number loss
See cases
GPathogenic
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