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Items: 27

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CPM
(T438A +6 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CPM
(M371V +6 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CPM
(P330S +6 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CPM
(L204P +6 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CPM
(H150R +6 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CPM
(H218Y +6 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CPM
(V122A +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CPM
(N179K +5 more)
Single nucleotide variant
(intron variant +2 more)
not specified
GUncertain significance
CPM
(N299S +5 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
CPM
(R168C +5 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
CPM
(R168G +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CPM
(S176T +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CPM
(G130A +5 more)
Single nucleotide variant
(missense variant +1 more)
Autism
GUncertain significance
CPM
(P136T +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CPM
(A168S +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CPM
(V143I +3 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
CPM
(Y109C +3 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
CPM
(P127L +3 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
CPM
(D66Y +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CPM
(T102I +2 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
CPM
(V60I +2 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
CPM
(Y18C +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CPM
(I71T +1 more)
Single nucleotide variant
(missense variant +3 more)
not specified
GUncertain significance
CPM
(K53E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CPM
(A36T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CPM
(V35I)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
CPM
Copy number loss
not provided
GUncertain significance
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