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Links from MedGen

Items: 1 to 100 of 190

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RAD21
Single nucleotide variant
(intron variant)
Cornelia de Lange syndrome 4
GLikely benign
RAD21
Single nucleotide variant
(synonymous variant)
Cornelia de Lange syndrome 4
GLikely benign
RAD21
Deletion
(intron variant)
Cornelia de Lange syndrome 4
GLikely benign
RAD21
Single nucleotide variant
(intron variant)
Cornelia de Lange syndrome 4
GLikely benign
RAD21
Single nucleotide variant
(synonymous variant)
Cornelia de Lange syndrome 4
GLikely benign
RAD21
Single nucleotide variant
(synonymous variant)
Cornelia de Lange syndrome 4
GLikely benign
RAD21
Single nucleotide variant
(synonymous variant)
Cornelia de Lange syndrome 4
GLikely benign
RAD21
(P517S)
Single nucleotide variant
(missense variant)
Cornelia de Lange syndrome 4
GUncertain significance
RAD21
Single nucleotide variant
(intron variant)
Cornelia de Lange syndrome 4
GLikely benign
RAD21
Single nucleotide variant
(intron variant)
Cornelia de Lange syndrome 4
GLikely benign
RAD21
(S195P)
Single nucleotide variant
(missense variant)
Cornelia de Lange syndrome 4
GUncertain significance
RAD21
Single nucleotide variant
(intron variant)
Cornelia de Lange syndrome 4
GBenign
RAD21
(L229S)
Single nucleotide variant
(missense variant)
Cornelia de Lange syndrome 4
GUncertain significance
RAD21
Single nucleotide variant
(synonymous variant)
Cornelia de Lange syndrome 4
GLikely benign
RAD21
Single nucleotide variant
(intron variant)
Cornelia de Lange syndrome 4
GLikely benign
RAD21
(H565R)
Single nucleotide variant
(missense variant)
Cornelia de Lange syndrome 4
GUncertain significance
RAD21
(V425I)
Single nucleotide variant
(missense variant)
Cornelia de Lange syndrome 4
GUncertain significance
RAD21
(A410S)
Single nucleotide variant
(missense variant)
Cornelia de Lange syndrome 4
GUncertain significance
RAD21
Single nucleotide variant
(synonymous variant)
Cornelia de Lange syndrome 4
GLikely benign
RAD21
(T144I)
Single nucleotide variant
(missense variant)
Cornelia de Lange syndrome 4
GUncertain significance
RAD21
Single nucleotide variant
(intron variant)
Cornelia de Lange syndrome 4
GLikely benign
RAD21
Single nucleotide variant
(synonymous variant)
Cornelia de Lange syndrome 4
GLikely benign
RAD21
(E577K)
Single nucleotide variant
(missense variant)
Cornelia de Lange syndrome 4
GUncertain significance
RAD21
Single nucleotide variant
(intron variant)
Cornelia de Lange syndrome 4
GLikely benign
RAD21
(P256L)
Single nucleotide variant
(missense variant)
Cornelia de Lange syndrome 4
GUncertain significance
RAD21
Single nucleotide variant
(synonymous variant)
Cornelia de Lange syndrome 4
GLikely benign
RAD21
(T291A)
Single nucleotide variant
(missense variant)
Cornelia de Lange syndrome 4
GUncertain significance
RAD21
(S280T)
Single nucleotide variant
(missense variant)
Cornelia de Lange syndrome 4
GUncertain significance
RAD21
(M290V)
Single nucleotide variant
(missense variant)
Cornelia de Lange syndrome 4
GUncertain significance
RAD21
(L396F)
Single nucleotide variant
(missense variant)
Cornelia de Lange syndrome 4
GUncertain significance
RAD21
(P506R)
Single nucleotide variant
(missense variant)
Cornelia de Lange syndrome 4
GUncertain significance
RAD21
Single nucleotide variant
(synonymous variant)
Cornelia de Lange syndrome 4
GLikely benign
RAD21
Single nucleotide variant
(synonymous variant)
Cornelia de Lange syndrome 4
GLikely benign
RAD21
(I228fs)
Deletion
(frameshift variant)
Cornelia de Lange syndrome 4
GPathogenic
RAD21
Single nucleotide variant
(intron variant)
Cornelia de Lange syndrome 4
GUncertain significance
RAD21
Single nucleotide variant
(intron variant)
Cornelia de Lange syndrome 4
GUncertain significance
RAD21
Single nucleotide variant
(synonymous variant)
Cornelia de Lange syndrome 4
GLikely benign
RAD21
(M497V)
Single nucleotide variant
(missense variant)
Cornelia de Lange syndrome 4
GUncertain significance
RAD21
Deletion
(inframe_deletion)
Cornelia de Lange syndrome 4
GUncertain significance
RAD21
(N412S)
Single nucleotide variant
(missense variant)
Cornelia de Lange syndrome 4
GUncertain significance
RAD21
(L385V)
Single nucleotide variant
(missense variant)
Cornelia de Lange syndrome 4
GUncertain significance
RAD21
Single nucleotide variant
(splice acceptor variant)
Cornelia de Lange syndrome 4
GUncertain significance
RAD21
(M171I)
Single nucleotide variant
(missense variant)
Cornelia de Lange syndrome 4
GUncertain significance
RAD21
Single nucleotide variant
(synonymous variant)
Cornelia de Lange syndrome 4
GLikely benign
RAD21
Single nucleotide variant
(intron variant)
Cornelia de Lange syndrome 4
GLikely benign
RAD21
(K605N)
Single nucleotide variant
(missense variant)
Cornelia de Lange syndrome 4
GUncertain significance
RAD21
(R65*)
Single nucleotide variant
(nonsense)
Cornelia de Lange syndrome 4
+1 more
GPathogenic/Likely pathogenic
RAD21
(I630M)
Single nucleotide variant
(missense variant)
Cornelia de Lange syndrome 4
GUncertain significance
RAD21
Single nucleotide variant
(synonymous variant)
Cornelia de Lange syndrome 4
GLikely benign
RAD21
Single nucleotide variant
(synonymous variant)
Cornelia de Lange syndrome 4
GLikely benign
RAD21
(G226S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
RAD21
Deletion
(intron variant)
Cornelia de Lange syndrome 4
GBenign
RAD21
(I309V)
Single nucleotide variant
(missense variant)
Cornelia de Lange syndrome 4
GUncertain significance
RAD21
Single nucleotide variant
(synonymous variant)
Cornelia de Lange syndrome 4
GLikely benign
RAD21
(T289A)
Single nucleotide variant
(missense variant)
Cornelia de Lange syndrome 4
GUncertain significance
RAD21
Single nucleotide variant
(intron variant)
Cornelia de Lange syndrome 4
GLikely benign
RAD21
Single nucleotide variant
(intron variant)
Cornelia de Lange syndrome 4
GLikely benign
RAD21
Single nucleotide variant
(intron variant)
Cornelia de Lange syndrome 4
GLikely benign
RAD21
Single nucleotide variant
(synonymous variant)
Cornelia de Lange syndrome 4
GLikely benign
RAD21
(C513S)
Single nucleotide variant
(missense variant)
Cornelia de Lange syndrome 4
GUncertain significance
RAD21
Single nucleotide variant
(synonymous variant)
Cornelia de Lange syndrome 4
GLikely benign
RAD21
(A576V)
Single nucleotide variant
(missense variant)
Cornelia de Lange syndrome 4
GUncertain significance
RAD21
Microsatellite
(intron variant)
Cornelia de Lange syndrome 4
GBenign
RAD21
Duplication
(inframe_insertion)
Cornelia de Lange syndrome 4
GLikely benign
RAD21
(S374P)
Single nucleotide variant
(missense variant)
Cornelia de Lange syndrome 4
GUncertain significance
RAD21
(E534D)
Single nucleotide variant
(missense variant)
Cornelia de Lange syndrome 4
GUncertain significance
RAD21
Single nucleotide variant
(intron variant)
Cornelia de Lange syndrome 4
GLikely benign
RAD21
Microsatellite
(intron variant)
Cornelia de Lange syndrome 4
GLikely benign
RAD21
Single nucleotide variant
(synonymous variant)
Cornelia de Lange syndrome 4
GLikely benign
RAD21
Deletion
(intron variant)
Cornelia de Lange syndrome 4
GLikely benign
RAD21
(T461del)
Deletion
(inframe_deletion)
Cornelia de Lange syndrome 4
GUncertain significance
RAD21
Single nucleotide variant
(synonymous variant)
Cornelia de Lange syndrome 4
GLikely benign
RAD21
Single nucleotide variant
(synonymous variant)
Cornelia de Lange syndrome 4
GLikely benign
RAD21
(A377V)
Single nucleotide variant
(missense variant)
Cornelia de Lange syndrome 4
GUncertain significance
RAD21
Deletion
(intron variant)
Cornelia de Lange syndrome 4
GLikely benign
RAD21
Single nucleotide variant
(intron variant)
Cornelia de Lange syndrome 4
GUncertain significance
RAD21
(G161D)
Single nucleotide variant
(missense variant)
Cornelia de Lange syndrome 4
GUncertain significance
RAD21
(T349fs)
Duplication
(frameshift variant)
Cornelia de Lange syndrome 4
GPathogenic
RAD21
Single nucleotide variant
(synonymous variant)
Cornelia de Lange syndrome 4
GUncertain significance
RAD21
Single nucleotide variant
(intron variant)
Cornelia de Lange syndrome 4
GLikely benign
RAD21
Indel
(missense variant)
Cornelia de Lange syndrome 4
GUncertain significance
RAD21
(K531R)
Single nucleotide variant
(missense variant)
Cornelia de Lange syndrome 4
GUncertain significance
RAD21
(H208R)
Single nucleotide variant
(missense variant)
Cornelia de Lange syndrome 4
GUncertain significance
RAD21
Single nucleotide variant
(intron variant)
Cornelia de Lange syndrome 4
GUncertain significance
RAD21
(G547fs)
Deletion
(frameshift variant)
Cornelia de Lange syndrome 4
GPathogenic
RAD21
(L183*)
Single nucleotide variant
(nonsense)
Cornelia de Lange syndrome 4
GLikely pathogenic
RAD21
(K604R)
Single nucleotide variant
(missense variant)
Cornelia de Lange syndrome 4
+1 more
GUncertain significance
RAD21
(L522V)
Single nucleotide variant
(missense variant)
Cornelia de Lange syndrome 4
+1 more
GBenign/Likely benign
RAD21
(Q433R)
Single nucleotide variant
(missense variant)
Cornelia de Lange syndrome 4
GUncertain significance
RAD21
(L581S)
Single nucleotide variant
(missense variant)
See cases
+1 more
GUncertain significance
RAD21
Single nucleotide variant
(intron variant)
Cornelia de Lange syndrome 4
GLikely benign
RAD21
Single nucleotide variant
(synonymous variant)
Cornelia de Lange syndrome 4
GLikely benign
RAD21
Single nucleotide variant
(synonymous variant)
Cornelia de Lange syndrome 4
GLikely benign
RAD21
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+1 more
GBenign
RAD21
Duplication
(intron variant)
Cornelia de Lange syndrome 4
GLikely benign
RAD21
Single nucleotide variant
(synonymous variant)
Cornelia de Lange syndrome 4
GLikely benign
RAD21
Single nucleotide variant
(synonymous variant)
Cornelia de Lange syndrome 4
GLikely benign
RAD21
Single nucleotide variant
(synonymous variant)
Cornelia de Lange syndrome 4
GLikely benign
RAD21
(Q482H)
Single nucleotide variant
(missense variant)
Cornelia de Lange syndrome 4
GUncertain significance
RAD21
(I620F)
Single nucleotide variant
(missense variant)
Cornelia de Lange syndrome 4
GLikely pathogenic
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