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Items: 19

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABHD1, ADGRF3
+99 more
Copy number gain
See cases
GUncertain significance
DPYSL5
Single nucleotide variant
(5 prime UTR variant)
not provided
GUncertain significance
DPYSL5
(M43K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DPYSL5
(R117*)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
DPYSL5
(M145L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DPYSL5
(I210F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DPYSL5
Deletion
not provided
GUncertain significance
DPYSL5
(S312R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DPYSL5
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
DPYSL5
(D325G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DPYSL5
Single nucleotide variant
(splice donor variant)
not provided
GUncertain significance
DPYSL5
(G450S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DPYSL5
(P463L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DPYSL5
(K480N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DPYSL5
(G494R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DPYSL5
(R517P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DPYSL5
(S560*)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
DPYSL5
(A89P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DPYSL5
(S219G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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