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Items: 1 to 100 of 400

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130065566, LOC130065567
+2522 more
Copy number gain
See cases
GPathogenic
LOC130065574, LOC130065575
+950 more
Copy number gain
See cases
GPathogenic
LOC130065743, LOC130065744
+254 more
Copy number gain
See cases
GPathogenic
AAR2, ACSS2
+214 more
Copy number loss
See cases
GPathogenic
EDEM2, EIF6
+29 more
Copy number loss
See cases
GLikely pathogenic
LOC130065861, LOC130065862
+568 more
Copy number loss
See cases
GPathogenic
C20orf173, CEP250
+35 more
Copy number loss
See cases
GPathogenic
GDF5, GDF5-AS1
Single nucleotide variant
(3 prime UTR variant)
Brachydactyly
+4 more
GBenign/Likely benign
GDF5, GDF5-AS1
Single nucleotide variant
(3 prime UTR variant)
Brachydactyly
+5 more
GBenign/Likely benign
GDF5, GDF5-AS1
Single nucleotide variant
(3 prime UTR variant)
Brachydactyly
+5 more
GBenign
GDF5, GDF5-AS1
Single nucleotide variant
(3 prime UTR variant)
Brachydactyly
+4 more
GBenign/Likely benign
GDF5, GDF5-AS1
Single nucleotide variant
(3 prime UTR variant)
Multiple synostoses syndrome 2
+4 more
GBenign/Likely benign
GDF5, GDF5-AS1
Single nucleotide variant
(3 prime UTR variant)
Brachydactyly
+5 more
GBenign
GDF5, GDF5-AS1
Single nucleotide variant
(3 prime UTR variant)
Multiple synostoses syndrome 2
+4 more
GConflicting classifications of pathogenicity
GDF5, GDF5-AS1
Single nucleotide variant
(3 prime UTR variant)
Brachydactyly
+5 more
GBenign
GDF5-AS1, GDF5
Single nucleotide variant
(3 prime UTR variant)
Multiple synostoses syndrome 2
+4 more
GUncertain significance
GDF5, GDF5-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
GDF5, GDF5-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
GDF5, GDF5-AS1
(C498R)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
GDF5, GDF5-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
GDF5-AS1, GDF5
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
GDF5, GDF5-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
GDF5, GDF5-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
GDF5, GDF5-AS1
(V495L)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
GDF5, GDF5-AS1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
GDF5, GDF5-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
GDF5, GDF5-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
GDF5, GDF5-AS1
(E491K)
Single nucleotide variant
(non-coding transcript variant +1 more)
Symphalangism, proximal, 1B
GPathogenic
GDF5, GDF5-AS1
(Y490H)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
GDF5, GDF5-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
GDF5, GDF5-AS1
(Q489del)
Deletion
(non-coding transcript variant +1 more)
not provided
GUncertain significance
GDF5, GDF5-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
GDF5, GDF5-AS1
(Y487*)
Single nucleotide variant
(non-coding transcript variant +1 more)
Brachydactyly type C
GPathogenic
GDF5, GDF5-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
GDF5, GDF5-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
GDF5, GDF5-AS1
(N483K)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
GDF5, GDF5-AS1
(N483S)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+1 more
GUncertain significance
GDF5, GDF5-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
GDF5-AS1, GDF5
(S475N)
Single nucleotide variant
(non-coding transcript variant +1 more)
Multiple synostoses syndrome 2
GPathogenic
GDF5, GDF5-AS1
(I474F)
Single nucleotide variant
(non-coding transcript variant +1 more)
GDF5-related condition
GLikely pathogenic
GDF5, GDF5-AS1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
GDF5, GDF5-AS1
(T469R)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
GDF5, GDF5-AS1
(V467M)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
GDF5-AS1, GDF5
(C466Y)
Single nucleotide variant
(non-coding transcript variant +1 more)
Brachydactyly type C
GLikely pathogenic
GDF5, GDF5-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
GDF5, GDF5-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
GDF5-AS1, GDF5
(S460F)
Single nucleotide variant
(non-coding transcript variant +1 more)
Inborn genetic diseases
GUncertain significance
GDF5, GDF5-AS1
(E459*)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GPathogenic
GDF5, GDF5-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
GDF5, GDF5-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+5 more
GConflicting classifications of pathogenicity
GDF5, GDF5-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
GDF5, GDF5-AS1
(S455F)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
GDF5, GDF5-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
GDF5, GDF5-AS1
(A447G)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
GDF5, GDF5-AS1
(N445S)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
GDF5, GDF5-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
GDF5, GDF5-AS1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
GDF5, GDF5-AS1
(E442K)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
GDF5, GDF5-AS1
(L441P)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GPathogenic
GDF5, GDF5-AS1
(H440L)
Single nucleotide variant
(non-coding transcript variant +1 more)
Not Specified
Gno classification for the single variant
Sno classification for the single variant
Ono classification for the single variant
GDF5, GDF5-AS1
(S439T)
Single nucleotide variant
(non-coding transcript variant +1 more)
Not Specified
Gno classification for the single variant
Sno classification for the single variant
Ono classification for the single variant
GDF5, GDF5-AS1
(S439T +2 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Acromesomelic dysplasia 2B
GPathogenic
GDF5, GDF5-AS1
(R438L)
Indel
(missense variant +1 more)
not provided
GPathogenic
GDF5, GDF5-AS1
(R438L)
Single nucleotide variant
(missense variant +1 more)
Symphalangism, proximal, 1B
+1 more
GPathogenic
GDF5, GDF5-AS1
(R438C)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely pathogenic
GDF5, GDF5-AS1
(L437del)
Deletion
(non-coding transcript variant +1 more)
Not Specified
Gno classification for the single variant
Sno classification for the single variant
Ono classification for the single variant
GDF5, GDF5-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
+1 more
GLikely benign
GDF5, GDF5-AS1
(P436R)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
GDF5-AS1, GDF5
(P436T)
Single nucleotide variant
(non-coding transcript variant +1 more)
Acromesomelic dysplasia 2B
GPathogenic
GDF5, GDF5-AS1
(F435L)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
GDF5, GDF5-AS1
(C433*)
Single nucleotide variant
(non-coding transcript variant +1 more)
Grebe syndrome
GLikely pathogenic
GDF5, GDF5-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GConflicting classifications of pathogenicity
GDF5-AS1, GDF5
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
GDF5, GDF5-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
GDF5, GDF5-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
GDF5, GDF5-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
GDF5-AS1, GDF5
(H428P)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
GDF5, GDF5-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
GDF5, GDF5-AS1
(Y424*)
Single nucleotide variant
(non-coding transcript variant +1 more)
Acromesomelic dysplasia 2C, Hunter-Thompson type
GUncertain significance
GDF5, GDF5-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
GDF5, GDF5-AS1
(P421T)
Single nucleotide variant
(non-coding transcript variant +1 more)
Inborn genetic diseases
GUncertain significance
GDF5, GDF5-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
GDF5-AS1, GDF5
(W417S)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
GDF5, GDF5-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
GDF5, GDF5-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
GDF5, GDF5-AS1
(D411A)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
GDF5, GDF5-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
GDF5, GDF5-AS1
(K403N)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
GDF5, GDF5-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
GDF5, GDF5-AS1
Duplication
(non-coding transcript variant +1 more)
Acromesomelic dysplasia 2B
+9 more
GUncertain significance
GDF5, GDF5-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
GDF5, GDF5-AS1
(C400Y)
Single nucleotide variant
(missense variant +1 more)
Brachydactyly type A1C
GLikely pathogenic
GDF5, GDF5-AS1
(R399H)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
GDF5, GDF5-AS1
(R399C)
Single nucleotide variant
(non-coding transcript variant +1 more)
Brachydactyly type A1C
GPathogenic
GDF5, GDF5-AS1
(A398P)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
GDF5-AS1, GDF5
(K397N)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
GDF5, GDF5-AS1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
GDF5, GDF5-AS1
(G389V)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
GDF5, GDF5-AS1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
GDF5, GDF5-AS1
(A382fs)
Deletion
(non-coding transcript variant +1 more)
not provided
GPathogenic
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