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Items: 11

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NOVA2
(G254A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NOVA2
(A247T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
NOVA2
Deletion
(inframe_deletion)
not provided
GUncertain significance
NOVA2
(L175V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NOVA2
(G147S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NOVA2
(R104*)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
NOVA2
(P76L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NOVA2
(K50E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NOVA2
(E30K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NOVA2
(M1V)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ERCC2, PPP5C
+121 more
Copy number loss
See cases
GPathogenic
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