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Links from MedGen

Items: 1 to 100 of 1912

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
STK11
Single nucleotide variant
(synonymous variant +1 more)
Peutz-Jeghers syndrome
GLikely benign
LOC130062899, STK11
Single nucleotide variant
(synonymous variant +1 more)
Peutz-Jeghers syndrome
GLikely benign
STK11
Single nucleotide variant
(intron variant)
Peutz-Jeghers syndrome
GLikely benign
STK11
Single nucleotide variant
(intron variant)
Peutz-Jeghers syndrome
GLikely benign
STK11
(F157fs)
Deletion
(frameshift variant +1 more)
Peutz-Jeghers syndrome
GPathogenic
STK11
Single nucleotide variant
(intron variant)
Peutz-Jeghers syndrome
GLikely benign
STK11
Single nucleotide variant
(intron variant)
Peutz-Jeghers syndrome
GLikely benign
STK11
(R301P)
Single nucleotide variant
(missense variant +1 more)
Peutz-Jeghers syndrome
GUncertain significance
STK11
Single nucleotide variant
(intron variant)
Peutz-Jeghers syndrome
GLikely benign
STK11
Single nucleotide variant
(intron variant)
Peutz-Jeghers syndrome
GLikely benign
STK11
Single nucleotide variant
(intron variant)
Peutz-Jeghers syndrome
GLikely benign
STK11
(A398P)
Single nucleotide variant
(missense variant +1 more)
Peutz-Jeghers syndrome
GUncertain significance
STK11
(L160V)
Single nucleotide variant
(missense variant +1 more)
Peutz-Jeghers syndrome
GUncertain significance
STK11
(Q159R)
Single nucleotide variant
(missense variant +1 more)
Peutz-Jeghers syndrome
GUncertain significance
STK11
(R304G)
Single nucleotide variant
(missense variant +1 more)
Peutz-Jeghers syndrome
GLikely pathogenic
STK11
Single nucleotide variant
(synonymous variant +1 more)
Peutz-Jeghers syndrome
GLikely benign
STK11
(M22fs)
Duplication
(frameshift variant +1 more)
Peutz-Jeghers syndrome
GPathogenic
STK11
Single nucleotide variant
(intron variant)
Peutz-Jeghers syndrome
GUncertain significance
STK11
Single nucleotide variant
(intron variant)
Peutz-Jeghers syndrome
GLikely benign
STK11
(Y118D)
Single nucleotide variant
(missense variant +1 more)
Peutz-Jeghers syndrome
GUncertain significance
STK11
(S169G)
Single nucleotide variant
(missense variant +1 more)
Peutz-Jeghers syndrome
GUncertain significance
STK11
(N393Y)
Single nucleotide variant
(missense variant +1 more)
Peutz-Jeghers syndrome
GUncertain significance
STK11
Single nucleotide variant
(synonymous variant +1 more)
Peutz-Jeghers syndrome
GLikely benign
STK11
Single nucleotide variant
(intron variant)
Peutz-Jeghers syndrome
GLikely benign
LOC130062899, STK11
Single nucleotide variant
(synonymous variant +1 more)
Peutz-Jeghers syndrome
GLikely benign
STK11
(R42G)
Single nucleotide variant
(missense variant +1 more)
Peutz-Jeghers syndrome
GUncertain significance
STK11
Single nucleotide variant
(synonymous variant +1 more)
Peutz-Jeghers syndrome
GUncertain significance
STK11
(G196D)
Single nucleotide variant
(missense variant +1 more)
Peutz-Jeghers syndrome
GUncertain significance
STK11
(G251V)
Single nucleotide variant
(missense variant +1 more)
Peutz-Jeghers syndrome
GLikely pathogenic
STK11
(G215V)
Single nucleotide variant
(missense variant +1 more)
Peutz-Jeghers syndrome
GUncertain significance
STK11
Indel
(splice donor variant)
Peutz-Jeghers syndrome
GPathogenic
STK11
(E256Q)
Single nucleotide variant
(missense variant +1 more)
Peutz-Jeghers syndrome
GUncertain significance
STK11
Duplication
(intron variant)
Peutz-Jeghers syndrome
GLikely benign
STK11
Single nucleotide variant
(intron variant)
Peutz-Jeghers syndrome
GLikely benign
STK11
Single nucleotide variant
(intron variant)
Peutz-Jeghers syndrome
GUncertain significance
STK11
(R147G)
Single nucleotide variant
(missense variant +1 more)
Peutz-Jeghers syndrome
GUncertain significance
STK11
(T186I)
Single nucleotide variant
(missense variant +1 more)
Peutz-Jeghers syndrome
GUncertain significance
STK11
Single nucleotide variant
(synonymous variant +1 more)
Peutz-Jeghers syndrome
GLikely benign
STK11
(M289V)
Single nucleotide variant
(missense variant +1 more)
Peutz-Jeghers syndrome
GUncertain significance
STK11
(G47D)
Single nucleotide variant
(missense variant +1 more)
Peutz-Jeghers syndrome
GUncertain significance
STK11
Single nucleotide variant
(synonymous variant +1 more)
Peutz-Jeghers syndrome
GLikely benign
STK11
(D327H)
Single nucleotide variant
(missense variant +1 more)
Peutz-Jeghers syndrome
GUncertain significance
STK11
(A417D)
Single nucleotide variant
(missense variant +1 more)
Peutz-Jeghers syndrome
GUncertain significance
STK11
Single nucleotide variant
(intron variant)
Peutz-Jeghers syndrome
GLikely benign
STK11
(D237A)
Single nucleotide variant
(missense variant +1 more)
Peutz-Jeghers syndrome
GUncertain significance
STK11
(T32I)
Single nucleotide variant
(missense variant +1 more)
Peutz-Jeghers syndrome
GUncertain significance
STK11
Single nucleotide variant
(intron variant)
Peutz-Jeghers syndrome
GLikely benign
STK11
(G188D)
Single nucleotide variant
(missense variant +1 more)
Peutz-Jeghers syndrome
GUncertain significance
STK11
(K96R)
Single nucleotide variant
(missense variant +1 more)
Peutz-Jeghers syndrome
GUncertain significance
STK11
(E375A)
Single nucleotide variant
(missense variant +1 more)
Peutz-Jeghers syndrome
GUncertain significance
STK11
(A241fs)
Duplication
(frameshift variant +1 more)
Peutz-Jeghers syndrome
GPathogenic
STK11
Single nucleotide variant
(synonymous variant +1 more)
Peutz-Jeghers syndrome
GLikely benign
STK11
Single nucleotide variant
(intron variant)
Peutz-Jeghers syndrome
GLikely benign
LOC130062899, STK11
Duplication
(intron variant)
Peutz-Jeghers syndrome
GBenign
STK11
Single nucleotide variant
(synonymous variant +1 more)
Peutz-Jeghers syndrome
GLikely benign
STK11
(E293Q)
Single nucleotide variant
(missense variant +1 more)
Peutz-Jeghers syndrome
GUncertain significance
STK11
Single nucleotide variant
(intron variant)
Peutz-Jeghers syndrome
GUncertain significance
STK11
Single nucleotide variant
(intron variant)
Peutz-Jeghers syndrome
GLikely benign
LOC130062899, STK11
(G346D)
Single nucleotide variant
(non-coding transcript variant +1 more)
Peutz-Jeghers syndrome
GUncertain significance
STK11
Single nucleotide variant
(intron variant)
Peutz-Jeghers syndrome
GUncertain significance
STK11
(A389T)
Single nucleotide variant
(missense variant +1 more)
Peutz-Jeghers syndrome
GUncertain significance
STK11
Single nucleotide variant
(synonymous variant +1 more)
Peutz-Jeghers syndrome
GLikely benign
STK11
Single nucleotide variant
(intron variant)
Peutz-Jeghers syndrome
GLikely benign
STK11
Single nucleotide variant
(intron variant)
Peutz-Jeghers syndrome
GLikely benign
LOC130062899, STK11
Single nucleotide variant
(intron variant)
Peutz-Jeghers syndrome
GLikely benign
STK11
Single nucleotide variant
(intron variant)
Peutz-Jeghers syndrome
+1 more
GLikely benign
STK11
Single nucleotide variant
(synonymous variant +1 more)
Peutz-Jeghers syndrome
+1 more
GLikely benign
STK11
(Q112K)
Single nucleotide variant
(missense variant +1 more)
Peutz-Jeghers syndrome
GUncertain significance
STK11
(C151F)
Single nucleotide variant
(missense variant +1 more)
Peutz-Jeghers syndrome
GUncertain significance
STK11
(I46N)
Single nucleotide variant
(missense variant +1 more)
Peutz-Jeghers syndrome
GUncertain significance
STK11
Single nucleotide variant
(intron variant)
Peutz-Jeghers syndrome
GLikely benign
STK11
(P324Q)
Single nucleotide variant
(missense variant +1 more)
Peutz-Jeghers syndrome
GUncertain significance
STK11
Deletion
(inframe_deletion +1 more)
Peutz-Jeghers syndrome
GPathogenic
STK11
(T250fs)
Deletion
(frameshift variant +1 more)
Peutz-Jeghers syndrome
GPathogenic
STK11
Single nucleotide variant
(intron variant)
Peutz-Jeghers syndrome
GLikely benign
STK11
(G91R)
Single nucleotide variant
(missense variant +1 more)
Peutz-Jeghers syndrome
GUncertain significance
STK11
(S216fs)
Duplication
(frameshift variant +1 more)
Peutz-Jeghers syndrome
GPathogenic
STK11
(C391W)
Single nucleotide variant
(missense variant +1 more)
Peutz-Jeghers syndrome
GUncertain significance
STK11
(E2G)
Single nucleotide variant
(missense variant +1 more)
Peutz-Jeghers syndrome
GUncertain significance
STK11
Single nucleotide variant
(synonymous variant +1 more)
Peutz-Jeghers syndrome
GLikely benign
STK11
(F298L)
Single nucleotide variant
(missense variant +1 more)
Peutz-Jeghers syndrome
GUncertain significance
STK11
Single nucleotide variant
(synonymous variant +1 more)
Peutz-Jeghers syndrome
GLikely benign
STK11
Single nucleotide variant
(intron variant)
Peutz-Jeghers syndrome
GLikely benign
STK11
Single nucleotide variant
(intron variant)
Peutz-Jeghers syndrome
GLikely benign
STK11
(M392K)
Single nucleotide variant
(missense variant +1 more)
Peutz-Jeghers syndrome
GUncertain significance
STK11
(K44N)
Single nucleotide variant
(missense variant +1 more)
Peutz-Jeghers syndrome
GUncertain significance
STK11
Single nucleotide variant
(intron variant)
Peutz-Jeghers syndrome
GUncertain significance
STK11
(M125fs)
Deletion
(frameshift variant +1 more)
Peutz-Jeghers syndrome
GPathogenic
STK11
(R86Q)
Single nucleotide variant
(missense variant +1 more)
Peutz-Jeghers syndrome
GUncertain significance
STK11
Single nucleotide variant
(intron variant)
Peutz-Jeghers syndrome
GLikely benign
STK11
Single nucleotide variant
(intron variant)
Peutz-Jeghers syndrome
GLikely benign
STK11
(K262Q)
Single nucleotide variant
(missense variant +1 more)
Peutz-Jeghers syndrome
GUncertain significance
STK11
(F157V)
Single nucleotide variant
(missense variant +1 more)
Peutz-Jeghers syndrome
GUncertain significance
STK11
(Q399fs)
Duplication
(frameshift variant +1 more)
Peutz-Jeghers syndrome
GUncertain significance
STK11
Single nucleotide variant
(intron variant)
Peutz-Jeghers syndrome
GLikely benign
STK11
Single nucleotide variant
(synonymous variant +1 more)
Peutz-Jeghers syndrome
GLikely benign
LOC130062899, STK11
Single nucleotide variant
(intron variant)
Peutz-Jeghers syndrome
GLikely benign
STK11
(N94D)
Single nucleotide variant
(missense variant +1 more)
Peutz-Jeghers syndrome
GUncertain significance
STK11
Duplication
(intron variant)
Peutz-Jeghers syndrome
GLikely benign
STK11
(A397L)
Indel
(missense variant +1 more)
Peutz-Jeghers syndrome
GUncertain significance
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