U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 1 to 100 of 159

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PDE4D
(I109T +11 more)
Single nucleotide variant
(missense variant)
Acrodysostosis 2 with or without hormone resistance
GPathogenic
PDE4D
(I122M +11 more)
Single nucleotide variant
(missense variant)
Acrodysostosis 2 with or without hormone resistance
GUncertain significance
PDE4D
(T112A +11 more)
Single nucleotide variant
(missense variant)
Acrodysostosis 2 with or without hormone resistance
GUncertain significance
PDE4D
(P144S)
Single nucleotide variant
(missense variant +1 more)
Acrodysostosis 2 with or without hormone resistance
GUncertain significance
PDE4D
(I109V +11 more)
Single nucleotide variant
(missense variant)
Acrodysostosis 2 with or without hormone resistance
GUncertain significance
PDE4D
Duplication
(5 prime UTR variant +1 more)
Acrodysostosis 2 with or without hormone resistance
GBenign
PDE4D
(C498F +11 more)
Single nucleotide variant
(missense variant)
Acrodysostosis 2 with or without hormone resistance
GUncertain significance
PDE4D
(L14F +11 more)
Single nucleotide variant
(missense variant)
Acrodysostosis 2 with or without hormone resistance
GUncertain significance
PDE4D
Single nucleotide variant
(intron variant)
Acrodysostosis 2 with or without hormone resistance
+1 more
GBenign
PDE4D
Single nucleotide variant
(intron variant)
Acrodysostosis 2 with or without hormone resistance
+1 more
GBenign
PDE4D
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
PDE4D
Single nucleotide variant
(intron variant)
Acrodysostosis 2 with or without hormone resistance
+1 more
GBenign
PDE4D
(K290Q +11 more)
Single nucleotide variant
(missense variant)
Acrodysostosis 2 with or without hormone resistance
GUncertain significance
PDE4D
(E382G +11 more)
Single nucleotide variant
(missense variant)
Acrodysostosis 2 with or without hormone resistance
GLikely pathogenic
PDE4D
(S119F +7 more)
Single nucleotide variant
(missense variant +1 more)
Acrodysostosis 2 with or without hormone resistance
GLikely pathogenic
PDE4D
(I190M +11 more)
Single nucleotide variant
(missense variant)
Acrodysostosis 2 with or without hormone resistance
GUncertain significance
PDE4D
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
PDE4D
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
PDE4D
Single nucleotide variant
(intron variant)
Acrodysostosis 2 with or without hormone resistance
GUncertain significance
PDE4D
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PDE4D
(R357W +11 more)
Single nucleotide variant
(missense variant)
Acrodysostosis 2 with or without hormone resistance
GLikely benign
PDE4D
Single nucleotide variant
(3 prime UTR variant)
Acrodysostosis 2 with or without hormone resistance
GBenign
PDE4D
Single nucleotide variant
(3 prime UTR variant)
Acrodysostosis 2 with or without hormone resistance
GUncertain significance
PDE4D
Single nucleotide variant
(3 prime UTR variant)
Acrodysostosis 2 with or without hormone resistance
GBenign
PDE4D
Single nucleotide variant
(3 prime UTR variant)
Acrodysostosis 2 with or without hormone resistance
GBenign
PDE4D
Single nucleotide variant
(3 prime UTR variant)
Acrodysostosis 2 with or without hormone resistance
GUncertain significance
PDE4D
Single nucleotide variant
(3 prime UTR variant)
Acrodysostosis 2 with or without hormone resistance
GUncertain significance
PDE4D
(H201P +11 more)
Single nucleotide variant
(missense variant)
Acrodysostosis 2 with or without hormone resistance
GUncertain significance
PDE4D
(I189V +11 more)
Single nucleotide variant
(missense variant)
Acrodysostosis 2 with or without hormone resistance
GUncertain significance
PDE4D
(N396S +11 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PDE4D
Single nucleotide variant
(3 prime UTR variant)
Acrodysostosis 2 with or without hormone resistance
GUncertain significance
PDE4D
Single nucleotide variant
(3 prime UTR variant)
Acrodysostosis 2 with or without hormone resistance
GUncertain significance
PDE4D
Single nucleotide variant
(3 prime UTR variant)
Acrodysostosis 2 with or without hormone resistance
GUncertain significance
PDE4D
Single nucleotide variant
(3 prime UTR variant)
Acrodysostosis 2 with or without hormone resistance
GUncertain significance
PDE4D
Single nucleotide variant
(3 prime UTR variant)
Acrodysostosis 2 with or without hormone resistance
GUncertain significance
PDE4D
Single nucleotide variant
(3 prime UTR variant)
Acrodysostosis 2 with or without hormone resistance
GUncertain significance
PDE4D
Single nucleotide variant
(3 prime UTR variant)
Acrodysostosis 2 with or without hormone resistance
GUncertain significance
PDE4D
Single nucleotide variant
(5 prime UTR variant +1 more)
Acrodysostosis 2 with or without hormone resistance
GBenign
PDE4D
Single nucleotide variant
(intron variant)
Acrodysostosis 2 with or without hormone resistance
GUncertain significance
PDE4D
(L602F +11 more)
Single nucleotide variant
(missense variant)
Acrodysostosis 2 with or without hormone resistance
GUncertain significance
PDE4D
(S530G +11 more)
Single nucleotide variant
(missense variant)
Acrodysostosis 2 with or without hormone resistance
+1 more
GUncertain significance
PDE4D
(E663D +11 more)
Single nucleotide variant
(missense variant)
Acrodysostosis 2 with or without hormone resistance
GUncertain significance
PDE4D
Single nucleotide variant
(3 prime UTR variant)
Acrodysostosis 2 with or without hormone resistance
GBenign
PDE4D
Single nucleotide variant
(3 prime UTR variant)
Acrodysostosis 2 with or without hormone resistance
GUncertain significance
PDE4D
Single nucleotide variant
(3 prime UTR variant)
Acrodysostosis 2 with or without hormone resistance
GUncertain significance
PDE4D
Single nucleotide variant
(3 prime UTR variant)
Acrodysostosis 2 with or without hormone resistance
GBenign
PDE4D
Single nucleotide variant
(3 prime UTR variant)
Acrodysostosis 2 with or without hormone resistance
GUncertain significance
PDE4D
Single nucleotide variant
(3 prime UTR variant)
Acrodysostosis 2 with or without hormone resistance
GUncertain significance
PDE4D
Single nucleotide variant
(3 prime UTR variant)
Acrodysostosis 2 with or without hormone resistance
GUncertain significance
PDE4D
Single nucleotide variant
(3 prime UTR variant)
Acrodysostosis 2 with or without hormone resistance
GUncertain significance
PDE4D
Single nucleotide variant
(3 prime UTR variant)
Acrodysostosis 2 with or without hormone resistance
GUncertain significance
PDE4D
Single nucleotide variant
(synonymous variant +1 more)
Acrodysostosis 2 with or without hormone resistance
GUncertain significance
PDE4D
Single nucleotide variant
(intron variant)
Acrodysostosis 2 with or without hormone resistance
GLikely benign
LOC129993939, PDE4D
(P125T +8 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
PDE4D
(K155T +8 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
PDE4D
(V498E +11 more)
Single nucleotide variant
(missense variant)
Acrodysostosis 2 with or without hormone resistance
GUncertain significance
PDE4D
(V545I +11 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
PDE4D
Single nucleotide variant
(3 prime UTR variant)
Acrodysostosis 2 with or without hormone resistance
GUncertain significance
PDE4D
Single nucleotide variant
(3 prime UTR variant)
Acrodysostosis 2 with or without hormone resistance
GUncertain significance
PDE4D
Single nucleotide variant
(3 prime UTR variant)
Acrodysostosis 2 with or without hormone resistance
GUncertain significance
PDE4D
Single nucleotide variant
(3 prime UTR variant)
Acrodysostosis 2 with or without hormone resistance
GUncertain significance
PDE4D
Single nucleotide variant
(3 prime UTR variant)
Acrodysostosis 2 with or without hormone resistance
GUncertain significance
PDE4D
Single nucleotide variant
(3 prime UTR variant)
Acrodysostosis 2 with or without hormone resistance
GBenign
PDE4D
Single nucleotide variant
(3 prime UTR variant)
Acrodysostosis 2 with or without hormone resistance
GUncertain significance
PDE4D
Single nucleotide variant
(3 prime UTR variant)
Acrodysostosis 2 with or without hormone resistance
GUncertain significance
PDE4D
Single nucleotide variant
(3 prime UTR variant)
Acrodysostosis 2 with or without hormone resistance
GUncertain significance
PDE4D
Single nucleotide variant
(3 prime UTR variant)
Acrodysostosis 2 with or without hormone resistance
GUncertain significance
PDE4D
Single nucleotide variant
(3 prime UTR variant)
Acrodysostosis 2 with or without hormone resistance
GUncertain significance
PDE4D
Single nucleotide variant
(3 prime UTR variant)
Acrodysostosis 2 with or without hormone resistance
GUncertain significance
PDE4D
Single nucleotide variant
(3 prime UTR variant)
Acrodysostosis 2 with or without hormone resistance
GUncertain significance
PDE4D
Single nucleotide variant
(3 prime UTR variant)
Acrodysostosis 2 with or without hormone resistance
GBenign
PDE4D
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
PDE4D
(R666W +11 more)
Single nucleotide variant
(missense variant)
Acrodysostosis 2 with or without hormone resistance
+1 more
GUncertain significance
DEPDC1B, LOC123493321
+6 more
Deletion
Acrodysostosis 2 with or without hormone resistance
GUncertain significance
PDE4D
(M527V +11 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PDE4D
Single nucleotide variant
(5 prime UTR variant +1 more)
Acrodysostosis 2 with or without hormone resistance
GUncertain significance
PDE4D
(P42Q)
Single nucleotide variant
(intron variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
PDE4D
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GBenign/Likely benign
PDE4D
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign/Likely benign
PDE4D
Single nucleotide variant
(synonymous variant +2 more)
not provided
+1 more
GBenign
PDE4D
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GBenign
PDE4D
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
PDE4D
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
PDE4D
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign
PDE4D
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
PDE4D
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PDE4D
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
PDE4D
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
PDE4D
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GUncertain significance
PDE4D
Single nucleotide variant
(intron variant)
Acrodysostosis 2 with or without hormone resistance
GLikely benign
PDE4D
Single nucleotide variant
(synonymous variant)
Acrodysostosis 2 with or without hormone resistance
GUncertain significance
PDE4D
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
PDE4D
Single nucleotide variant
(3 prime UTR variant)
Acrodysostosis 2 with or without hormone resistance
GUncertain significance
PDE4D
Single nucleotide variant
(3 prime UTR variant)
Acrodysostosis 2 with or without hormone resistance
GUncertain significance
PDE4D
Single nucleotide variant
(3 prime UTR variant)
Acrodysostosis 2 with or without hormone resistance
GUncertain significance
PDE4D
Single nucleotide variant
(3 prime UTR variant)
Acrodysostosis 2 with or without hormone resistance
GBenign
PDE4D
Single nucleotide variant
(3 prime UTR variant)
Acrodysostosis 2 with or without hormone resistance
GUncertain significance
PDE4D
Single nucleotide variant
(3 prime UTR variant)
Acrodysostosis 2 with or without hormone resistance
GBenign
PDE4D
Single nucleotide variant
(3 prime UTR variant)
Acrodysostosis 2 with or without hormone resistance
GUncertain significance
PDE4D
Single nucleotide variant
(3 prime UTR variant)
Acrodysostosis 2 with or without hormone resistance
GUncertain significance
Format
Items per page
Sort by
Choose Destination