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Items: 62

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AARSD1, AATF
+2032 more
Copy number gain
See cases
GPathogenic
LOC126862582, LOC126862583
+1753 more
Copy number gain
See cases
GPathogenic
CEP95, DDX5
+22 more
Copy number loss
See cases
GUncertain significance
CEP95, LOC130061442
(A2T)
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
GUncertain significance
CEP95
(I11V)
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
GLikely benign
CEP95
(L15R)
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
GUncertain significance
CEP95
(H20R)
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
GUncertain significance
CEP95
(I21V)
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
GUncertain significance
CEP95
(I21M)
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
GUncertain significance
CEP95
(Y40N)
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
GUncertain significance
CEP95
(I43V)
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
GUncertain significance
CEP95
(I69T)
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
GUncertain significance
CEP95
(Q78H)
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
GUncertain significance
CEP95
(H120R)
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
GUncertain significance
CEP95
(R134Q)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
CEP95
(T187I +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CEP95
(N32D +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CEP95
(P61S +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CEP95
(L253V +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CEP95
(I261V +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CEP95
(I278M +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CEP95
(T135A +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CEP95
(T299M +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
CEP95
(K156T +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CEP95
(P161A +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CEP95
(Q327R +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CEP95
(R358K +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CEP95
(R214W +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CEP95
(R229W +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CEP95
(H400R +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CEP95
(V246A +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CEP95
(T250S +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CEP95
(V262M +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
CEP95
(S274P +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CEP95
(M439V +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
CEP95
(R465K +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CEP95
(K466R +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CEP95
(R308T +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CEP95
(R313H +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
CEP95
(H507Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CEP95
(G355E +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CEP95
(K387E +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CEP95
(V430F +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CEP95
(A437S +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CEP95
(A437T +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CEP95
(Y509C +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CEP95
(S596Y +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CEP95
(R606T +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CEP95
(V630I +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CEP95
(R633Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CEP95
(E638K +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CEP95
(R803C +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CEP95
(Q814P +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ACE, APPBP2
+43 more
Copy number gain
See cases
GUncertain significance
ABCA6, ABCA8
+79 more
Copy number gain
not provided
GPathogenic
ACE, AMZ2
+77 more
Copy number gain
not provided
GPathogenic
DDX5, ERN1
+10 more
Duplication
Familial hyperkalemic periodic paralysis
GUncertain significance
ALOX12, ALOX12B
+1143 more
Copy number gain
See cases
GPathogenic
SPEM2, TBCD
+1143 more
Copy number gain
See cases
GPathogenic
AANAT, AATK
+458 more
Copy number gain
See cases
GPathogenic
CEP95, SMURF2
Copy number loss
See cases
GBenign
ACE, APOH
+48 more
Copy number gain
See cases
GPathogenic
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