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Links from MedGen

Items: 47

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GDF5, GDF5-AS1
(C433*)
Single nucleotide variant
(non-coding transcript variant +1 more)
Grebe syndrome
GLikely pathogenic
GDF5, GDF5-AS1
(E371*)
Single nucleotide variant
(non-coding transcript variant +1 more)
Grebe syndrome
GUncertain significance
GDF5, GDF5-AS1
Duplication
(non-coding transcript variant +1 more)
Symphalangism, proximal, 1B
+9 more
GUncertain significance
GDF5
(P135fs)
Deletion
(frameshift variant)
Grebe syndrome
GPathogenic
GDF5, LOC109461476
Single nucleotide variant
(5 prime UTR variant)
Multiple synostoses syndrome 2
+4 more
GUncertain significance
GDF5
Single nucleotide variant
(synonymous variant)
Acromesomelic dysplasia 2B
+5 more
GConflicting classifications of pathogenicity
GDF5
(G61E)
Single nucleotide variant
(missense variant)
Multiple synostoses syndrome 2
+4 more
GUncertain significance
GDF5
Single nucleotide variant
(synonymous variant)
not provided
+5 more
GConflicting classifications of pathogenicity
GDF5, GDF5-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+5 more
GConflicting classifications of pathogenicity
GDF5, LOC109461476
Single nucleotide variant
(5 prime UTR variant)
Acromesomelic dysplasia 2C, Hunter-Thompson type
+4 more
GConflicting classifications of pathogenicity
GDF5, LOC109461476
Single nucleotide variant
(5 prime UTR variant)
Multiple synostoses syndrome 2
+4 more
GUncertain significance
GDF5
(A69G)
Single nucleotide variant
(missense variant)
Brachydactyly
+4 more
GConflicting classifications of pathogenicity
GDF5
(A76S)
Single nucleotide variant
(missense variant)
Multiple synostoses syndrome 2
+4 more
GUncertain significance
GDF5
(P169H)
Single nucleotide variant
(missense variant)
Multiple synostoses syndrome 2
+4 more
GUncertain significance
GDF5
Single nucleotide variant
(intron variant)
Multiple synostoses syndrome 2
+4 more
GConflicting classifications of pathogenicity
GDF5, GDF5-AS1
(N356S)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+5 more
GUncertain significance
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/Likely benign
GDF5, GDF5-AS1
(R361C)
Single nucleotide variant
(non-coding transcript variant +1 more)
Grebe syndrome
+1 more
GUncertain significance
GDF5, GDF5-AS1
(A382fs)
Deletion
(non-coding transcript variant +1 more)
not provided
GPathogenic
GDF5
(F9L)
Single nucleotide variant
(missense variant)
Brachydactyly
+5 more
GUncertain significance
LOC109461476, GDF5
Single nucleotide variant
(5 prime UTR variant)
Acromesomelic dysplasia 2B
+4 more
GUncertain significance
GDF5, LOC109461476
Single nucleotide variant
(5 prime UTR variant)
Brachydactyly
+5 more
GBenign/Likely benign
GDF5, LOC109461476
Single nucleotide variant
(5 prime UTR variant)
Brachydactyly
+4 more
GBenign/Likely benign
GDF5
(N56K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+6 more
GConflicting classifications of pathogenicity
GDF5
(A117S)
Single nucleotide variant
(missense variant)
Multiple synostoses syndrome 2
+5 more
GBenign/Likely benign
GDF5
(P166H)
Single nucleotide variant
(missense variant)
Multiple synostoses syndrome 2
+5 more
GBenign
GDF5, GDF5-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
Acromesomelic dysplasia 2B
+6 more
GConflicting classifications of pathogenicity
GDF5, GDF5-AS1
(R318P)
Single nucleotide variant
(non-coding transcript variant +1 more)
Acromesomelic dysplasia 2B
+5 more
GBenign/Likely benign
GDF5, GDF5-AS1
(R334G)
Single nucleotide variant
(non-coding transcript variant +1 more)
Multiple synostoses syndrome 2
+5 more
GBenign/Likely benign
GDF5, GDF5-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
Multiple synostoses syndrome 2
+5 more
GConflicting classifications of pathogenicity
GDF5, GDF5-AS1
(Q376H)
Single nucleotide variant
(missense variant +1 more)
Multiple synostoses syndrome 2
+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
(3 prime UTR variant)
Brachydactyly
+5 more
GBenign
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
GBenign/Likely benign
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
GDF5, GDF5-AS1
Single nucleotide variant
(3 prime UTR variant)
Brachydactyly
+4 more
GBenign/Likely benign
GDF5
Single nucleotide variant
(synonymous variant)
not provided
+6 more
GBenign/Likely benign
GDF5, GDF5-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
+6 more
GBenign
GDF5, GDF5-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
Brachydactyly
+6 more
GBenign
GDF5, LOC109461476
Single nucleotide variant
(no sequence alteration)
not provided
+6 more
GBenign
GDF5
Single nucleotide variant
(synonymous variant)
Brachydactyly
+6 more
GBenign/Likely benign
GDF5, LOC109461476
Single nucleotide variant
(no sequence alteration +1 more)
not provided
+5 more
GBenign
GDF5
(R100fs)
Duplication
(frameshift variant)
Grebe syndrome
GPathogenic
GDF5, GDF5-AS1
(C400Y)
Single nucleotide variant
(missense variant +1 more)
Brachydactyly type A1C
GLikely pathogenic
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