U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 80

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MIGA1, MIR101-1
+558 more
Copy number loss
See cases
GPathogenic
ACADM, AK5
+188 more
Duplication
not specified
GUncertain significance
ADGRL2, ADGRL4
+241 more
Copy number loss
See cases
GPathogenic
ZZZ3
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
ZZZ3
(Q374R +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZZZ3
(D865Y +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZZZ3
(H369Q +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZZZ3
(I828V +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZZZ3
(Y292H +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZZZ3
(D280A +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZZZ3
(T277A +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZZZ3
(R267Q +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZZZ3
(Y229C +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZZZ3
(Y720C +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZZZ3
(N224D +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZZZ3
(I173N +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZZZ3
Single nucleotide variant
(intron variant)
not provided
GBenign
ZZZ3
(T656S +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZZZ3
(Q635R +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZZZ3
(S131R +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZZZ3
(M620V +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
ZZZ3
(D114G +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZZZ3
(G599D +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZZZ3
(R90C +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZZZ3
(N89K +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZZZ3
(K54T +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZZZ3
(D523Y +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ZZZ3
(Q28E +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZZZ3
(I477V)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
ZZZ3
(S449N)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
ZZZ3
(C441S)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
ZZZ3
(A417T)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
ZZZ3
(N413D)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
ZZZ3
(P412T)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
ZZZ3
(S397F)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
ZZZ3
(S381L)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
ZZZ3
(L368S)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
ZZZ3
(E344A)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
ZZZ3
(K328E)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
ZZZ3
(A326T)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
ZZZ3
(R312K)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
ZZZ3
(A285V)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
ZZZ3
(I282V)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
ZZZ3
(H280Y)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
ZZZ3
(Q274K)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
ZZZ3
(V273L)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
ZZZ3
(H264N)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
ZZZ3
(D263E)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
ZZZ3
(M251V)
Single nucleotide variant
(missense variant +2 more)
not specified
GLikely benign
ZZZ3
(D246N)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
ZZZ3
(T245M)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
ZZZ3
(Q235R)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
ZZZ3
(V233G)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
ZZZ3
(V233M)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
ZZZ3
(N223D)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
ZZZ3
(L188R)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
ZZZ3
(S135F)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
ZZZ3
(R121H)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
ZZZ3
(R107K)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
ZZZ3
(D94G)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
ZZZ3
(K93R)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
ZZZ3
(R84G)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
ZZZ3
(P83S)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
ZZZ3
(L16F)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
ZZZ3
(R8H)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
ACADM, ADGRL2
+52 more
Copy number loss
not provided
GLikely pathogenic
ZZZ3
Copy number loss
not provided
GUncertain significance
MCOLN3, MIGA1
+97 more
Copy number loss
not specified
GPathogenic
AK5, ZZZ3
Copy number gain
not provided
GUncertain significance
ACADM, ADGRL2
+65 more
Copy number loss
not provided
GPathogenic
ACADM, ADGRL2
+85 more
Deletion
not provided
Gnot provided
AGL, AGMAT
+783 more
Copy number gain
Intellectual disability, mild
+1 more
GUncertain significance
ACADM, AK5
+21 more
Copy number gain
not provided
GPathogenic
AK5, MIGA1
+2 more
Copy number loss
See cases
GUncertain significance
ACADM, ADGRL2
+94 more
Copy number loss
See cases
GPathogenic
CD34, CD46
+2014 more
Copy number gain
See cases
GPathogenic
GPATCH2, GPATCH3
+2014 more
Copy number gain
See cases
GPathogenic
ACADM, ADGRL2
+80 more
Copy number loss
See cases
GPathogenic
ACADM, ADGRL4
+24 more
Copy number gain
See cases
GUncertain significance
ACADM, ADGRL4
+78 more
Copy number loss
See cases
GPathogenic
Format
Items per page
Sort by
Choose Destination