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Items: 40

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABHD8, ACP5
+2135 more
Copy number gain
See cases
GPathogenic
ACP7, ACTMAP
+514 more
Copy number gain
See cases
GPathogenic
CCDC97
(V63L)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
CCDC97
(R45C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC97
(R116L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC97
(R51H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC97
(F123Y +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC97
(R127H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC97
(R131S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC97
(R66H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC97
(A67V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC97
(R76Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
CCDC97
(R81W +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC97
(R92W +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC97
(E105K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC97
(P182S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC97
(P142H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC97
(G149R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC97
(P154S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC97
(E164K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC97
(D191G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC97
(P208S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC97
(D209N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC97
(E212K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC97
(T221I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC97
(R292C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC97
(R227H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC97
(Y303C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC97
(N244D +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC97
(D246N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC97
(D248N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC97
(V253M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC97
(D269G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC97
(D269E +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC97
(P273T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACTMAP, AKT2
+84 more
Duplication
TWIST1-related craniosynostosis
+3 more
GUncertain significance
B9D2, CYP2S1
+13 more
Copy number gain
not provided
GUncertain significance
ZNF607, ZNF780A
+432 more
Copy number gain
not provided
GPathogenic
PGLYRP1, PGLYRP2
+1364 more
Copy number gain
See cases
GPathogenic
TMC4, TMED1
+1364 more
Copy number gain
See cases
GPathogenic
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