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Links from MedGen

Items: 1 to 100 of 105

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COMP
(D435H)
Single nucleotide variant
(missense variant)
Multiple epiphyseal dysplasia type 1
GLikely pathogenic
COMP
(E618D)
Single nucleotide variant
(missense variant)
Multiple epiphyseal dysplasia type 1
GUncertain significance
COMP
(D405N)
Single nucleotide variant
(missense variant)
Multiple epiphyseal dysplasia type 1
GUncertain significance
COMP
(T529N)
Single nucleotide variant
(missense variant)
Multiple epiphyseal dysplasia type 1
GLikely pathogenic
COMP
(C430fs)
Duplication
(frameshift variant)
Multiple epiphyseal dysplasia type 1
GUncertain significance
COMP
(D273G)
Single nucleotide variant
(missense variant)
Multiple epiphyseal dysplasia type 1
GLikely pathogenic
COMP
(N555K)
Single nucleotide variant
(missense variant)
Multiple epiphyseal dysplasia type 1
+1 more
GPathogenic/Likely pathogenic
COMP
(R683H)
Single nucleotide variant
(missense variant)
Multiple epiphyseal dysplasia type 1
GUncertain significance
COMP
(D317Y)
Single nucleotide variant
(missense variant)
Multiple epiphyseal dysplasia type 1
GLikely pathogenic
COMP
(Q456P)
Single nucleotide variant
(missense variant)
Multiple epiphyseal dysplasia type 1
GLikely pathogenic
COMP
(P296S)
Single nucleotide variant
(missense variant)
Multiple epiphyseal dysplasia type 1
GPathogenic
COMP
(V724fs)
Duplication
(frameshift variant)
Multiple epiphyseal dysplasia type 1
GLikely pathogenic
COMP
(D376N)
Single nucleotide variant
(missense variant)
Multiple epiphyseal dysplasia type 1
GLikely pathogenic
COMP
(R698*)
Single nucleotide variant
(nonsense)
Multiple epiphyseal dysplasia type 1
+1 more
GUncertain significance
COMP
(D374del)
Microsatellite
(inframe_deletion)
not provided
+1 more
GPathogenic/Likely pathogenic
COMP
(D401Y)
Single nucleotide variant
(missense variant)
Multiple epiphyseal dysplasia type 1
GLikely pathogenic
COMP
(T105M)
Single nucleotide variant
(missense variant)
Multiple epiphyseal dysplasia type 1
GUncertain significance
COMP
(D326N)
Single nucleotide variant
(missense variant)
Multiple epiphyseal dysplasia type 1
+1 more
GPathogenic/Likely pathogenic
COL1A1
Single nucleotide variant
(splice acceptor variant)
Osteogenesis imperfecta, perinatal lethal
+1 more
GPathogenic
COMP
(G501S)
Single nucleotide variant
(missense variant)
Multiple epiphyseal dysplasia type 1
+1 more
GLikely pathogenic
COMP
(C410G)
Single nucleotide variant
(missense variant)
Multiple epiphyseal dysplasia type 1
GLikely pathogenic
COMP
(N199D)
Single nucleotide variant
(missense variant)
Multiple epiphyseal dysplasia type 1
GUncertain significance
COMP
(D439E)
Single nucleotide variant
(missense variant)
not provided
+1 more
GLikely pathogenic
COMP
(N323S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COMP
(R485H)
Single nucleotide variant
(missense variant)
Multiple epiphyseal dysplasia type 1
GUncertain significance
COMP
(C468S)
Single nucleotide variant
(missense variant)
Multiple epiphyseal dysplasia type 1
GLikely pathogenic
COMP
(D385N)
Single nucleotide variant
(missense variant)
not provided
+3 more
GPathogenic/Likely pathogenic
COMP
Single nucleotide variant
(intron variant)
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
+1 more
GUncertain significance
COMP
Single nucleotide variant
(synonymous variant)
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
+1 more
GUncertain significance
COMP
Single nucleotide variant
(synonymous variant)
COMP-related disorder
+2 more
GBenign/Likely benign
COMP
(R738H)
Single nucleotide variant
(missense variant)
Multiple epiphyseal dysplasia type 1
+2 more
GConflicting classifications of pathogenicity
COMP
Single nucleotide variant
(intron variant)
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
+1 more
GUncertain significance
COMP
Single nucleotide variant
(intron variant)
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
+1 more
GUncertain significance
COMP
(N194K)
Single nucleotide variant
(missense variant)
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
+1 more
GUncertain significance
COMP
Single nucleotide variant
(synonymous variant)
Multiple epiphyseal dysplasia type 1
+2 more
GConflicting classifications of pathogenicity
COMP
(D469V)
Single nucleotide variant
(missense variant)
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
+1 more
GUncertain significance
COMP
(P541A)
Single nucleotide variant
(missense variant)
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
+1 more
GUncertain significance
COMP
Single nucleotide variant
(5 prime UTR variant)
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
+1 more
GUncertain significance
COMP
Single nucleotide variant
(intron variant)
Multiple epiphyseal dysplasia type 1
+2 more
GBenign/Likely benign
COMP
(R79S)
Single nucleotide variant
(missense variant)
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
+1 more
GUncertain significance
COMP
(G215R)
Single nucleotide variant
(missense variant)
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
+3 more
GUncertain significance
COMP
(P234S)
Single nucleotide variant
(missense variant)
Multiple epiphyseal dysplasia type 1
+3 more
GConflicting classifications of pathogenicity
COMP
Single nucleotide variant
(synonymous variant)
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
+2 more
GConflicting classifications of pathogenicity
COMP
(T105K)
Single nucleotide variant
(missense variant)
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
+1 more
GUncertain significance
COMP
Single nucleotide variant
(synonymous variant)
Multiple epiphyseal dysplasia type 1
+1 more
GUncertain significance
COMP
Single nucleotide variant
(synonymous variant)
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
+1 more
GUncertain significance
COMP
(E284K)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
COMP
(R288S)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
COMP
(E632K)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
COMP
(D4A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GConflicting classifications of pathogenicity
COMP
(C292R)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
COMP
(D437N)
Single nucleotide variant
(missense variant)
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
+2 more
GConflicting classifications of pathogenicity
COMP
(D385Y)
Single nucleotide variant
(missense variant)
Multiple epiphyseal dysplasia type 1
GPathogenic
COMP
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign/Likely benign
COMP
Single nucleotide variant
(synonymous variant)
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
+3 more
GBenign/Likely benign
COMP
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign/Likely benign
COMP
(C255R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
COMP
(P296R)
Single nucleotide variant
(missense variant)
Multiple epiphyseal dysplasia type 1
GLikely pathogenic
COMP
(D439N)
Single nucleotide variant
(missense variant)
Multiple epiphyseal dysplasia type 1
GLikely pathogenic
COMP
(M717R)
Single nucleotide variant
(missense variant)
Multiple epiphyseal dysplasia type 1
GUncertain significance
COMP
(D422A)
Single nucleotide variant
(missense variant)
Multiple epiphyseal dysplasia type 1
GLikely pathogenic
COMP
Single nucleotide variant
(intron variant)
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
+2 more
GConflicting classifications of pathogenicity
COMP
(D376Y)
Single nucleotide variant
(missense variant)
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
+1 more
GLikely pathogenic
COMP
Single nucleotide variant
(splice donor variant)
Multiple epiphyseal dysplasia type 1
+1 more
GUncertain significance
COMP
Single nucleotide variant
(5 prime UTR variant)
Multiple epiphyseal dysplasia type 1
+1 more
GBenign/Likely benign
COMP
Single nucleotide variant
(synonymous variant)
Multiple epiphyseal dysplasia type 1
+1 more
GUncertain significance
COMP
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
COMP
Single nucleotide variant
(intron variant)
Multiple epiphyseal dysplasia type 1
+1 more
GUncertain significance
COMP
Single nucleotide variant
(synonymous variant)
Multiple epiphyseal dysplasia type 1
+2 more
GBenign
COMP
Single nucleotide variant
(intron variant)
Multiple epiphyseal dysplasia type 1
+1 more
GUncertain significance
COMP
Single nucleotide variant
(intron variant)
COMP-related disorder
+4 more
GConflicting classifications of pathogenicity
COMP
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign
COMP
(T126I)
Single nucleotide variant
(missense variant)
Multiple epiphyseal dysplasia type 1
+1 more
GUncertain significance
COMP
(F137S)
Single nucleotide variant
(missense variant)
not provided
+3 more
GBenign/Likely benign
COMP
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign/Likely benign
COMP
(H189R)
Single nucleotide variant
(missense variant)
Multiple epiphyseal dysplasia type 1
+1 more
GUncertain significance
COMP
Single nucleotide variant
(synonymous variant)
Multiple epiphyseal dysplasia type 1
+1 more
GLikely benign
COMP
(G207D)
Single nucleotide variant
(missense variant)
Multiple epiphyseal dysplasia type 1
+1 more
GUncertain significance
COMP
Single nucleotide variant
(intron variant)
Multiple epiphyseal dysplasia type 1
+2 more
GConflicting classifications of pathogenicity
COMP
Single nucleotide variant
(intron variant)
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
+2 more
GConflicting classifications of pathogenicity
COMP
Single nucleotide variant
(intron variant)
not provided
+2 more
GConflicting classifications of pathogenicity
COMP
(D530E)
Single nucleotide variant
(missense variant)
COMP-related disorder
+3 more
GConflicting classifications of pathogenicity
COMP
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign/Likely benign
COMP
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
COMP
Single nucleotide variant
(synonymous variant)
Multiple epiphyseal dysplasia type 1
+1 more
GUncertain significance
COMP
(T660R)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
COMP
Single nucleotide variant
(synonymous variant)
Multiple epiphyseal dysplasia type 1
+1 more
GUncertain significance
COMP
Single nucleotide variant
(intron variant)
not provided
+3 more
GBenign/Likely benign
COMP
Single nucleotide variant
(3 prime UTR variant)
Multiple epiphyseal dysplasia type 1
+1 more
GBenign
COMP
Single nucleotide variant
(3 prime UTR variant)
Multiple epiphyseal dysplasia type 1
+2 more
GBenign/Likely benign
COMP
Single nucleotide variant
(3 prime UTR variant)
Multiple epiphyseal dysplasia type 1
+1 more
GUncertain significance
COMP
Single nucleotide variant
(intron variant)
not specified
+3 more
GBenign/Likely benign
COMP
(Q756R)
Single nucleotide variant
(missense variant)
not specified
+3 more
GBenign
COMP
Single nucleotide variant
(intron variant)
not provided
+3 more
GBenign/Likely benign
COMP
Single nucleotide variant
(synonymous variant)
Carpal tunnel syndrome 2
+4 more
GBenign
COMP
Single nucleotide variant
(3 prime UTR variant)
not provided
+3 more
GBenign
COMP
(A171T)
Single nucleotide variant
(missense variant)
not specified
+5 more
GBenign
COMP
(T585R)
Single nucleotide variant
(missense variant)
Multiple epiphyseal dysplasia type 1
+2 more
GPathogenic
COMP
(D473del)
Microsatellite
(inframe_deletion)
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
+2 more
GPathogenic
COMP
(N386D)
Single nucleotide variant
(missense variant)
Connective tissue disorder
+4 more
GBenign
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