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Items: 83

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HPGD
(G114E)
Single nucleotide variant
(intron variant +2 more)
Hypertrophic osteoarthropathy, primary, autosomal recessive, 1
GUncertain significance
HPGD
Single nucleotide variant
(splice donor variant +1 more)
Hypertrophic osteoarthropathy, primary, autosomal recessive, 1
GPathogenic
HPGD
(A41fs)
Deletion
(frameshift variant +1 more)
Hypertrophic osteoarthropathy, primary, autosomal recessive, 1
+1 more
GPathogenic
HPGD
(A13E)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GConflicting classifications of pathogenicity
HPGD
Single nucleotide variant
(splice donor variant +1 more)
Hypertrophic osteoarthropathy, primary, autosomal recessive, 1
GPathogenic
HPGD
Single nucleotide variant
(intron variant)
Isolated congenital digital clubbing
+2 more
GBenign/Likely benign
HPGD
(N95S)
Single nucleotide variant
(missense variant +2 more)
Hypertrophic osteoarthropathy, primary, autosomal recessive, 1
+2 more
GUncertain significance
HPGD
Single nucleotide variant
(intron variant)
Hypertrophic osteoarthropathy, primary, autosomal recessive, 1
+1 more
GBenign
HPGD
(Q105*)
Single nucleotide variant
(nonsense +2 more)
Hypertrophic osteoarthropathy, primary, autosomal recessive, 1
GPathogenic
HPGD
(G12S)
Single nucleotide variant
(missense variant +2 more)
Hypertrophic osteoarthropathy, primary, autosomal recessive, 1
GPathogenic
HPGD
Single nucleotide variant
(synonymous variant +1 more)
Hypertrophic osteoarthropathy, primary, autosomal recessive, 1
+1 more
GUncertain significance
HPGD
Single nucleotide variant
(3 prime UTR variant)
Isolated congenital digital clubbing
+1 more
GUncertain significance
HPGD
Single nucleotide variant
(3 prime UTR variant)
Isolated congenital digital clubbing
+1 more
GLikely benign
HPGD
(L167F +2 more)
Single nucleotide variant
(missense variant +1 more)
Hypertrophic osteoarthropathy, primary, autosomal recessive, 1
+3 more
GUncertain significance
HPGD
Single nucleotide variant
(3 prime UTR variant)
Isolated congenital digital clubbing
+1 more
GLikely benign
HPGD
Single nucleotide variant
(3 prime UTR variant)
Isolated congenital digital clubbing
+1 more
GUncertain significance
HPGD
(A241T +2 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
Isolated congenital digital clubbing
+1 more
GUncertain significance
HPGD
Single nucleotide variant
(3 prime UTR variant)
Hypertrophic osteoarthropathy, primary, autosomal recessive, 1
+1 more
GLikely benign
HPGD
Single nucleotide variant
(3 prime UTR variant)
Hypertrophic osteoarthropathy, primary, autosomal recessive, 1
+1 more
GUncertain significance
HPGD
Single nucleotide variant
(3 prime UTR variant)
Isolated congenital digital clubbing
+1 more
GUncertain significance
HPGD
(I12V +1 more)
Single nucleotide variant
(missense variant +1 more)
Isolated congenital digital clubbing
+1 more
GUncertain significance
HPGD
Single nucleotide variant
(3 prime UTR variant)
Isolated congenital digital clubbing
+1 more
GConflicting classifications of pathogenicity
HPGD
Single nucleotide variant
(3 prime UTR variant)
Isolated congenital digital clubbing
+1 more
GUncertain significance
HPGD
Single nucleotide variant
(3 prime UTR variant)
Isolated congenital digital clubbing
+1 more
GUncertain significance
HPGD
Single nucleotide variant
(3 prime UTR variant)
Isolated congenital digital clubbing
+1 more
GUncertain significance
HPGD
Single nucleotide variant
(3 prime UTR variant)
Isolated congenital digital clubbing
+1 more
GLikely benign
HPGD
Single nucleotide variant
(synonymous variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
HPGD
(D91N +2 more)
Single nucleotide variant
(missense variant +1 more)
Isolated congenital digital clubbing
+2 more
GBenign/Likely benign
HPGD
Single nucleotide variant
(synonymous variant +1 more)
Hypertrophic osteoarthropathy, primary, autosomal recessive, 1
+2 more
GBenign/Likely benign
HPGD
(P149R +2 more)
Single nucleotide variant
(missense variant +1 more)
Hypertrophic osteoarthropathy, primary, autosomal recessive, 1
GLikely pathogenic
HPGD
Single nucleotide variant
not provided
+2 more
GBenign
HPGD
Single nucleotide variant
(5 prime UTR variant)
Isolated congenital digital clubbing
+2 more
GBenign
HPGD
Single nucleotide variant
(5 prime UTR variant)
Isolated congenital digital clubbing
+1 more
GUncertain significance
HPGD
Single nucleotide variant
(5 prime UTR variant)
Isolated congenital digital clubbing
+1 more
GUncertain significance
HPGD
Single nucleotide variant
(5 prime UTR variant)
Isolated congenital digital clubbing
+1 more
GUncertain significance
HPGD
Single nucleotide variant
(5 prime UTR variant)
Isolated congenital digital clubbing
+1 more
GUncertain significance
HPGD
Single nucleotide variant
(5 prime UTR variant)
Isolated congenital digital clubbing
+2 more
GUncertain significance
HPGD
Single nucleotide variant
(intron variant)
Isolated congenital digital clubbing
+1 more
GUncertain significance
HPGD
Single nucleotide variant
(intron variant)
Isolated congenital digital clubbing
+1 more
GUncertain significance
HPGD
Single nucleotide variant
(synonymous variant +2 more)
Isolated congenital digital clubbing
+2 more
GConflicting classifications of pathogenicity
HPGD
Single nucleotide variant
(synonymous variant +1 more)
Isolated congenital digital clubbing
+2 more
GBenign
HPGD
(G141R +3 more)
Single nucleotide variant
(missense variant +1 more)
Isolated congenital digital clubbing
+1 more
GUncertain significance
HPGD
Single nucleotide variant
(synonymous variant +1 more)
not provided
+2 more
GBenign
HPGD
(S174R +2 more)
Single nucleotide variant
(missense variant +1 more)
Isolated congenital digital clubbing
+3 more
GUncertain significance
HPGD
(N227S +2 more)
Single nucleotide variant
(missense variant +2 more)
Isolated congenital digital clubbing
+2 more
GBenign
HPGD
(T258K +2 more)
Single nucleotide variant
(missense variant +1 more)
Isolated congenital digital clubbing
+1 more
GUncertain significance
HPGD
Single nucleotide variant
(3 prime UTR variant)
Isolated congenital digital clubbing
+1 more
GUncertain significance
HPGD
Single nucleotide variant
(3 prime UTR variant)
not provided
+2 more
GLikely benign
HPGD
Single nucleotide variant
(3 prime UTR variant)
not provided
+2 more
GLikely benign
HPGD
Single nucleotide variant
(3 prime UTR variant)
not provided
+2 more
GBenign
HPGD
Single nucleotide variant
(3 prime UTR variant)
Isolated congenital digital clubbing
+1 more
GUncertain significance
HPGD
Single nucleotide variant
(3 prime UTR variant)
Isolated congenital digital clubbing
+1 more
GLikely benign
HPGD
Single nucleotide variant
(3 prime UTR variant)
Isolated congenital digital clubbing
+1 more
GUncertain significance
HPGD
Single nucleotide variant
(3 prime UTR variant)
Isolated congenital digital clubbing
+2 more
GBenign
HPGD
Single nucleotide variant
(3 prime UTR variant)
Isolated congenital digital clubbing
+1 more
GUncertain significance
HPGD
Deletion
(3 prime UTR variant)
Isolated congenital digital clubbing
+1 more
GUncertain significance
HPGD
Single nucleotide variant
(3 prime UTR variant)
not provided
+2 more
GBenign
HPGD
Single nucleotide variant
(3 prime UTR variant)
Isolated congenital digital clubbing
+1 more
GUncertain significance
HPGD
Single nucleotide variant
(3 prime UTR variant)
Isolated congenital digital clubbing
+1 more
GUncertain significance
HPGD
Deletion
(3 prime UTR variant)
Isolated congenital digital clubbing
+1 more
GUncertain significance
HPGD
Single nucleotide variant
(3 prime UTR variant)
Isolated congenital digital clubbing
+1 more
GUncertain significance
HPGD
Single nucleotide variant
(3 prime UTR variant)
Isolated congenital digital clubbing
+1 more
GUncertain significance
HPGD
Single nucleotide variant
(3 prime UTR variant)
Isolated congenital digital clubbing
+1 more
GUncertain significance
HPGD
Single nucleotide variant
(3 prime UTR variant)
Isolated congenital digital clubbing
+1 more
GUncertain significance
HPGD
Single nucleotide variant
(3 prime UTR variant)
not provided
+2 more
GBenign
HPGD
Single nucleotide variant
(3 prime UTR variant)
Isolated congenital digital clubbing
+1 more
GUncertain significance
HPGD
Single nucleotide variant
(3 prime UTR variant)
Isolated congenital digital clubbing
+1 more
GUncertain significance
HPGD
Single nucleotide variant
(3 prime UTR variant)
Isolated congenital digital clubbing
+1 more
GUncertain significance
HPGD
Single nucleotide variant
(3 prime UTR variant)
Isolated congenital digital clubbing
+1 more
GUncertain significance
HPGD
Single nucleotide variant
(3 prime UTR variant)
Isolated congenital digital clubbing
+1 more
GUncertain significance
HPGD
Single nucleotide variant
(3 prime UTR variant)
Isolated congenital digital clubbing
+1 more
GLikely benign
HPGD
Single nucleotide variant
(3 prime UTR variant)
Isolated congenital digital clubbing
+1 more
GUncertain significance
HPGD
Single nucleotide variant
(3 prime UTR variant)
Isolated congenital digital clubbing
+1 more
GUncertain significance
HPGD
Single nucleotide variant
(3 prime UTR variant)
Isolated congenital digital clubbing
+1 more
GUncertain significance
HPGD
Single nucleotide variant
(3 prime UTR variant)
not provided
+2 more
GBenign
HPGD
Indel
(3 prime UTR variant)
Hypertrophic osteoarthropathy, primary, autosomal recessive, 1
+1 more
GUncertain significance
HPGD
Single nucleotide variant
(3 prime UTR variant)
not provided
+2 more
GBenign
HPGD
(V145I +2 more)
Single nucleotide variant
(missense variant +1 more)
Hypertrophic osteoarthropathy, primary, autosomal recessive, 1
+2 more
GUncertain significance
HPGD
(L104fs)
Microsatellite
(frameshift variant +2 more)
HPGD-related disorder
+1 more
GPathogenic
HPGD
(M1L)
Single nucleotide variant
(missense variant +3 more)
not provided
GPathogenic
HPGD
(L59fs)
Microsatellite
(frameshift variant +1 more)
not provided
+1 more
GPathogenic
HPGD
(V78fs)
Indel
(frameshift variant +2 more)
Hypertrophic osteoarthropathy, primary, autosomal recessive, 1
GPathogenic
HPGD
(A140P +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GPathogenic
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