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Links from MedGen

Items: 1 to 100 of 111

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GNPAT
(D36fs +1 more)
Deletion
(frameshift variant)
Rhizomelic chondrodysplasia punctata type 2
GLikely pathogenic
GNPAT
(V121fs +1 more)
Indel
(frameshift variant)
Rhizomelic chondrodysplasia punctata type 2
GLikely pathogenic
GNPAT
(K208* +1 more)
Single nucleotide variant
(nonsense)
Rhizomelic chondrodysplasia punctata type 2
GLikely pathogenic
GNPAT
(G510fs +1 more)
Deletion
(frameshift variant)
Rhizomelic chondrodysplasia punctata type 2
GLikely pathogenic
GNPAT
(K86*)
Single nucleotide variant
(nonsense +1 more)
Rhizomelic chondrodysplasia punctata type 2
GLikely pathogenic
GNPAT
(Y232fs +1 more)
Deletion
(frameshift variant)
Rhizomelic chondrodysplasia punctata type 2
GLikely pathogenic
GNPAT
(E402fs +1 more)
Deletion
(frameshift variant)
Rhizomelic chondrodysplasia punctata type 2
GLikely pathogenic
GNPAT
Single nucleotide variant
(splice donor variant)
Rhizomelic chondrodysplasia punctata type 2
GLikely pathogenic
GNPAT
Deletion
(frameshift variant)
Rhizomelic chondrodysplasia punctata type 2
GLikely pathogenic
GNPAT
(E372* +1 more)
Single nucleotide variant
(nonsense)
Rhizomelic chondrodysplasia punctata type 2
GLikely pathogenic
GNPAT
(E313fs +1 more)
Deletion
(frameshift variant)
Rhizomelic chondrodysplasia punctata type 2
GLikely pathogenic
GNPAT
(R102* +1 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
GNPAT
(Y525* +1 more)
Single nucleotide variant
(nonsense)
Rhizomelic chondrodysplasia punctata type 2
GLikely pathogenic
GNPAT
Deletion
(nonsense)
Rhizomelic chondrodysplasia punctata type 2
GLikely pathogenic
GNPAT
(Y480fs +1 more)
Deletion
(frameshift variant)
Rhizomelic chondrodysplasia punctata type 2
GLikely pathogenic
GNPAT
(Y60*)
Single nucleotide variant
(nonsense +1 more)
Rhizomelic chondrodysplasia punctata type 2
GLikely pathogenic
GNPAT
(L131fs +1 more)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic/Likely pathogenic
GNPAT
(L231fs +1 more)
Deletion
(frameshift variant)
Rhizomelic chondrodysplasia punctata type 2
GLikely pathogenic
GNPAT
(E244* +1 more)
Single nucleotide variant
(nonsense)
Rhizomelic chondrodysplasia punctata type 2
GLikely pathogenic
GNPAT
(S9fs)
Microsatellite
(frameshift variant)
Rhizomelic chondrodysplasia punctata type 2
GLikely pathogenic
GNPAT
(E210fs +1 more)
Deletion
(frameshift variant)
Rhizomelic chondrodysplasia punctata type 2
GLikely pathogenic
GNPAT
(Y480* +1 more)
Duplication
(nonsense)
Rhizomelic chondrodysplasia punctata type 2
GLikely pathogenic
GNPAT
Single nucleotide variant
(splice donor variant)
Rhizomelic chondrodysplasia punctata type 2
GLikely pathogenic
GNPAT
(Y292* +1 more)
Duplication
(nonsense)
Rhizomelic chondrodysplasia punctata type 2
GLikely pathogenic
GNPAT
(M440K +1 more)
Single nucleotide variant
(missense variant)
Rhizomelic chondrodysplasia punctata type 2
GUncertain significance
GNPAT
(W386* +1 more)
Single nucleotide variant
(nonsense)
Rhizomelic chondrodysplasia punctata type 2
+1 more
GPathogenic/Likely pathogenic
GNPAT
(V543I +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
GNPAT
Deletion
(nonsense)
Rhizomelic chondrodysplasia punctata type 2
+1 more
GPathogenic
GNPAT
(S245C +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
GNPAT
(R100* +1 more)
Single nucleotide variant
(nonsense)
Rhizomelic chondrodysplasia punctata type 2
GLikely pathogenic
GNPAT
Single nucleotide variant
(intron variant)
Rhizomelic chondrodysplasia punctata type 2
GPathogenic
GNPAT
(K613I +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
GNPAT
Single nucleotide variant
(synonymous variant)
Rhizomelic chondrodysplasia punctata type 2
+1 more
GConflicting classifications of pathogenicity
GNPAT
(D390E +1 more)
Single nucleotide variant
(missense variant)
Rhizomelic chondrodysplasia punctata type 2
GUncertain significance
GNPAT
Single nucleotide variant
(5 prime UTR variant)
Rhizomelic chondrodysplasia punctata type 2
GUncertain significance
GNPAT
Single nucleotide variant
(3 prime UTR variant)
Rhizomelic chondrodysplasia punctata type 2
GUncertain significance
GNPAT
Single nucleotide variant
(3 prime UTR variant)
Rhizomelic chondrodysplasia punctata type 2
GUncertain significance
GNPAT
Single nucleotide variant
(synonymous variant)
GNPAT-related disorder
+2 more
GConflicting classifications of pathogenicity
GNPAT
(D330Y +1 more)
Single nucleotide variant
(missense variant)
Rhizomelic chondrodysplasia punctata type 2
+1 more
GUncertain significance
GNPAT, LOC129932767
Single nucleotide variant
(5 prime UTR variant)
Rhizomelic chondrodysplasia punctata type 2
GUncertain significance
GNPAT
Single nucleotide variant
(3 prime UTR variant)
Rhizomelic chondrodysplasia punctata type 2
GUncertain significance
GNPAT
Single nucleotide variant
(3 prime UTR variant)
Rhizomelic chondrodysplasia punctata type 2
GUncertain significance
GNPAT
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GBenign/Likely benign
GNPAT
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
GNPAT
Single nucleotide variant
(intron variant)
Rhizomelic chondrodysplasia punctata type 2
GUncertain significance
GNPAT
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
GNPAT
(E499K +1 more)
Single nucleotide variant
(missense variant)
Rhizomelic chondrodysplasia punctata type 2
+1 more
GUncertain significance
GNPAT
Single nucleotide variant
(synonymous variant)
Rhizomelic chondrodysplasia punctata type 2
GUncertain significance
GNPAT
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
GNPAT
(V22A)
Single nucleotide variant
(missense variant)
Rhizomelic chondrodysplasia punctata type 2
+1 more
GConflicting classifications of pathogenicity
GNPAT
(R187C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GNPAT
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign/Likely benign
GNPAT
(Q87* +1 more)
Single nucleotide variant
(nonsense)
Rhizomelic chondrodysplasia punctata type 2
GLikely pathogenic
GNPAT
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
GNPAT
(D97N +1 more)
Single nucleotide variant
(missense variant)
Rhizomelic chondrodysplasia punctata type 2
GUncertain significance
GNPAT
Single nucleotide variant
(intron variant)
Rhizomelic chondrodysplasia punctata type 2
+2 more
GBenign/Likely benign
GNPAT
Deletion
(intron variant)
Rhizomelic chondrodysplasia punctata type 2
+2 more
GBenign
GNPAT
(R210Q +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
GNPAT
Single nucleotide variant
(3 prime UTR variant)
Rhizomelic chondrodysplasia punctata type 2
GUncertain significance
GNPAT
Single nucleotide variant
(3 prime UTR variant)
Rhizomelic chondrodysplasia punctata type 2
GUncertain significance
GNPAT
Single nucleotide variant
(3 prime UTR variant)
Rhizomelic chondrodysplasia punctata type 2
GUncertain significance
GNPAT
(P675S +1 more)
Single nucleotide variant
(missense variant)
Rhizomelic chondrodysplasia punctata type 2
GUncertain significance
GNPAT
(A631V +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
GNPAT
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
GNPAT
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
GNPAT
Single nucleotide variant
(synonymous variant)
Rhizomelic chondrodysplasia punctata type 2
GUncertain significance
GNPAT
(Q550E +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
GNPAT
Single nucleotide variant
(synonymous variant)
Rhizomelic chondrodysplasia punctata type 2
GUncertain significance
GNPAT
(V495I +1 more)
Single nucleotide variant
(missense variant)
Rhizomelic chondrodysplasia punctata type 2
+2 more
GBenign/Likely benign
GNPAT
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
GNPAT
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GConflicting classifications of pathogenicity
GNPAT
(L475P +1 more)
Single nucleotide variant
(missense variant)
Rhizomelic chondrodysplasia punctata type 2
GUncertain significance
GNPAT
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
GNPAT
(P436L +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
GNPAT
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
GNPAT
(Q358K +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
GNPAT
Single nucleotide variant
(synonymous variant)
Rhizomelic chondrodysplasia punctata type 2
GUncertain significance
GNPAT
(N348S +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
GNPAT
(R344Q +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
GNPAT
(R344W +1 more)
Single nucleotide variant
(missense variant)
Rhizomelic chondrodysplasia punctata type 2
GUncertain significance
GNPAT
(S336Y +1 more)
Single nucleotide variant
(missense variant)
Rhizomelic chondrodysplasia punctata type 2
+1 more
GUncertain significance
GNPAT
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
GNPAT
(A236P +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
GNPAT
(M203K +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
GNPAT
(L159P +1 more)
Single nucleotide variant
(missense variant)
Rhizomelic chondrodysplasia punctata type 2
GUncertain significance
GNPAT
(V96L +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
GNPAT
(L93R +1 more)
Single nucleotide variant
(missense variant)
Rhizomelic chondrodysplasia punctata type 2
GUncertain significance
GNPAT
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
GNPAT
Single nucleotide variant
(5 prime UTR variant)
Rhizomelic chondrodysplasia punctata type 2
GUncertain significance
GNPAT
Single nucleotide variant
(5 prime UTR variant)
not specified
+1 more
GBenign
GNPAT
Single nucleotide variant
(5 prime UTR variant)
Rhizomelic chondrodysplasia punctata type 2
GUncertain significance
GNPAT
Single nucleotide variant
(5 prime UTR variant)
Rhizomelic chondrodysplasia punctata type 2
GUncertain significance
GNPAT
Single nucleotide variant
(5 prime UTR variant)
not provided
+1 more
GBenign/Likely benign
GNPAT
Single nucleotide variant
(5 prime UTR variant)
Rhizomelic chondrodysplasia punctata type 2
GUncertain significance
GNPAT, LOC129932767
Single nucleotide variant
(5 prime UTR variant)
Rhizomelic chondrodysplasia punctata type 2
+1 more
GBenign/Likely benign
GNPAT, LOC129932767
Single nucleotide variant
(5 prime UTR variant)
Rhizomelic chondrodysplasia punctata type 2
GUncertain significance
GNPAT
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
GNPAT
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign
GNPAT
(S9F)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign
GNPAT
Single nucleotide variant
(synonymous variant)
Rhizomelic chondrodysplasia punctata
+3 more
GConflicting classifications of pathogenicity
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