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Links from MedGen

Items: 1 to 100 of 2192

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MUTYH
Deletion
Familial adenomatous polyposis 2
GPathogenic
MUTYH
Duplication
Familial adenomatous polyposis 2
GUncertain significance
MUTYH
Deletion
Familial adenomatous polyposis 2
GPathogenic
MUTYH
Deletion
Familial adenomatous polyposis 2
GPathogenic
MUTYH
(L152P +12 more)
Single nucleotide variant
(missense variant +1 more)
Familial adenomatous polyposis 2
GUncertain significance
MUTYH
(V104A +9 more)
Single nucleotide variant
(missense variant +2 more)
Familial adenomatous polyposis 2
GUncertain significance
MUTYH
(W120C +12 more)
Single nucleotide variant
(missense variant +1 more)
Familial adenomatous polyposis 2
GUncertain significance
MUTYH
Single nucleotide variant
(splice donor variant)
Familial adenomatous polyposis 2
GUncertain significance
MUTYH
(D107E +8 more)
Single nucleotide variant
(missense variant +2 more)
Familial adenomatous polyposis 2
GUncertain significance
MUTYH
(P157R +12 more)
Single nucleotide variant
(missense variant +1 more)
Familial adenomatous polyposis 2
GUncertain significance
MUTYH
(L119F +12 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
MUTYH
Deletion
Familial adenomatous polyposis 2
GLikely pathogenic
MUTYH
Single nucleotide variant
(synonymous variant +1 more)
Familial adenomatous polyposis 2
GLikely benign
MUTYH
(V247A +12 more)
Single nucleotide variant
(missense variant +1 more)
Familial adenomatous polyposis 2
GUncertain significance
MUTYH, TOE1
Single nucleotide variant
(5 prime UTR variant +2 more)
Familial adenomatous polyposis 2
GLikely pathogenic
MUTYH
(N251K +12 more)
Single nucleotide variant
(missense variant +1 more)
Familial adenomatous polyposis 2
GUncertain significance
MUTYH
Single nucleotide variant
(synonymous variant +1 more)
Familial adenomatous polyposis 2
GLikely benign
MUTYH
(Q137H +12 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
MUTYH
(P268H +12 more)
Single nucleotide variant
(missense variant +1 more)
Familial adenomatous polyposis 2
GUncertain significance
MUTYH
(E267D +12 more)
Single nucleotide variant
(missense variant +1 more)
Familial adenomatous polyposis 2
GUncertain significance
MUTYH
(V159fs +12 more)
Deletion
(frameshift variant +1 more)
Familial adenomatous polyposis 2
GPathogenic
MUTYH
Single nucleotide variant
(splice donor variant)
Familial adenomatous polyposis 2
GLikely pathogenic
MUTYH
(G211E +12 more)
Single nucleotide variant
(missense variant +1 more)
Familial adenomatous polyposis 2
GUncertain significance
MUTYH
(S372Y +12 more)
Single nucleotide variant
(missense variant +1 more)
Familial adenomatous polyposis 2
GUncertain significance
MUTYH
(S30T +2 more)
Single nucleotide variant
(missense variant +2 more)
Familial adenomatous polyposis 2
GUncertain significance
MUTYH
Microsatellite
(5 prime UTR variant +2 more)
Familial adenomatous polyposis 2
GUncertain significance
MUTYH
(V326fs +12 more)
Deletion
(frameshift variant +1 more)
Familial adenomatous polyposis 2
GPathogenic
MUTYH
Single nucleotide variant
(intron variant)
Familial adenomatous polyposis 2
GLikely benign
MUTYH
Single nucleotide variant
(splice acceptor variant)
Familial adenomatous polyposis 2
GLikely pathogenic
MUTYH
(C374W +12 more)
Single nucleotide variant
(missense variant +1 more)
Familial adenomatous polyposis 2
GUncertain significance
MUTYH
(V137fs +12 more)
Deletion
(frameshift variant +1 more)
Familial adenomatous polyposis 2
GPathogenic
MUTYH
(T321A +12 more)
Single nucleotide variant
(missense variant +1 more)
Familial adenomatous polyposis 2
GUncertain significance
MUTYH
Single nucleotide variant
(splice donor variant)
Familial adenomatous polyposis 2
GLikely pathogenic
MUTYH
(G122V +12 more)
Single nucleotide variant
(missense variant +1 more)
Familial adenomatous polyposis 2
GUncertain significance
MUTYH
Single nucleotide variant
(splice acceptor variant)
Familial adenomatous polyposis 2
GLikely pathogenic
MUTYH, TOE1
(A2G)
Single nucleotide variant
(missense variant +2 more)
Familial adenomatous polyposis 2
GUncertain significance
MUTYH
(Q110P +9 more)
Single nucleotide variant
(missense variant +2 more)
Familial adenomatous polyposis 2
GUncertain significance
TOE1, MUTYH
(A3del)
Microsatellite
(inframe_deletion +2 more)
Familial adenomatous polyposis 2
GUncertain significance
MUTYH
(M363L +12 more)
Single nucleotide variant
(missense variant +1 more)
Familial adenomatous polyposis 2
GUncertain significance
MUTYH, TOE1
Single nucleotide variant
(synonymous variant +2 more)
Familial adenomatous polyposis 2
GUncertain significance
MUTYH
Duplication
(splice donor variant)
Familial adenomatous polyposis 2
GUncertain significance
MUTYH
(H399R +12 more)
Single nucleotide variant
(missense variant +1 more)
Familial adenomatous polyposis 2
GUncertain significance
MUTYH
Single nucleotide variant
(synonymous variant +2 more)
Familial adenomatous polyposis 2
GLikely benign
MUTYH
(M145fs +12 more)
Duplication
(frameshift variant +1 more)
Familial adenomatous polyposis 2
GLikely pathogenic
MUTYH
(G142fs +12 more)
Deletion
(frameshift variant +1 more)
Familial adenomatous polyposis 2
GLikely pathogenic
MUTYH
Insertion
(inframe_indel +1 more)
Familial adenomatous polyposis 2
GUncertain significance
MUTYH
Single nucleotide variant
(synonymous variant +1 more)
Familial adenomatous polyposis 2
GLikely benign
MUTYH
Single nucleotide variant
(5 prime UTR variant +1 more)
Familial adenomatous polyposis 2
GLikely benign
MUTYH
Single nucleotide variant
(synonymous variant +3 more)
Familial adenomatous polyposis 2
GUncertain significance
MUTYH, TOE1
(L8V)
Single nucleotide variant
(5 prime UTR variant +2 more)
Familial adenomatous polyposis 2
GUncertain significance
MUTYH
(K127T +10 more)
Single nucleotide variant
(missense variant +2 more)
Familial adenomatous polyposis 2
GUncertain significance
MUTYH
(E296D +12 more)
Single nucleotide variant
(missense variant +1 more)
Familial adenomatous polyposis 2
GUncertain significance
MUTYH
(P129A +12 more)
Single nucleotide variant
(missense variant +1 more)
Familial adenomatous polyposis 2
GUncertain significance
MUTYH
Single nucleotide variant
(intron variant)
Familial adenomatous polyposis 2
GLikely benign
MUTYH
Single nucleotide variant
(intron variant)
Familial adenomatous polyposis 2
GLikely benign
MUTYH
Single nucleotide variant
(intron variant)
Familial adenomatous polyposis 2
GLikely benign
MUTYH
Single nucleotide variant
(intron variant)
Familial adenomatous polyposis 2
GUncertain significance
MUTYH
(Q33H +2 more)
Single nucleotide variant
(missense variant +2 more)
Familial adenomatous polyposis 2
GUncertain significance
MUTYH
Single nucleotide variant
(intron variant)
Familial adenomatous polyposis 2
GUncertain significance
MUTYH
(D102E +8 more)
Single nucleotide variant
(missense variant +2 more)
Familial adenomatous polyposis 2
GUncertain significance
MUTYH
Single nucleotide variant
(synonymous variant +1 more)
Familial adenomatous polyposis 2
GUncertain significance
MUTYH
(L395R +12 more)
Single nucleotide variant
(missense variant +1 more)
Familial adenomatous polyposis 2
GUncertain significance
MUTYH
Single nucleotide variant
(intron variant)
Familial adenomatous polyposis 2
GLikely benign
MUTYH
(Q248fs +12 more)
Duplication
(non-coding transcript variant +1 more)
Familial adenomatous polyposis 2
GLikely pathogenic
MUTYH
Single nucleotide variant
(intron variant)
Familial adenomatous polyposis 2
GLikely benign
MUTYH
Single nucleotide variant
(splice donor variant)
Familial adenomatous polyposis 2
+1 more
GLikely pathogenic
MUTYH
Single nucleotide variant
(intron variant)
Familial adenomatous polyposis 2
GLikely benign
MUTYH
Single nucleotide variant
(intron variant)
Familial adenomatous polyposis 2
GLikely benign
MUTYH
(G157R +12 more)
Single nucleotide variant
(missense variant +1 more)
Familial adenomatous polyposis 2
GUncertain significance
MUTYH
Single nucleotide variant
(intron variant)
Familial adenomatous polyposis 2
GLikely benign
MUTYH
Single nucleotide variant
(intron variant)
Familial adenomatous polyposis 2
+1 more
GConflicting classifications of pathogenicity
MUTYH
Single nucleotide variant
(intron variant)
Familial adenomatous polyposis 2
GLikely benign
MUTYH
Single nucleotide variant
(intron variant)
Familial adenomatous polyposis 2
GLikely benign
MUTYH
(R16K +2 more)
Single nucleotide variant
(missense variant +2 more)
Familial adenomatous polyposis 2
GUncertain significance
MUTYH
(C163R +12 more)
Single nucleotide variant
(missense variant +1 more)
Familial adenomatous polyposis 2
GUncertain significance
MUTYH
(S487P +12 more)
Single nucleotide variant
(missense variant +1 more)
Familial adenomatous polyposis 2
+1 more
GUncertain significance
MUTYH
Single nucleotide variant
(synonymous variant +1 more)
Familial adenomatous polyposis 2
GLikely benign
MUTYH
Single nucleotide variant
(intron variant)
Familial adenomatous polyposis 2
GUncertain significance
MUTYH
(Q15* +8 more)
Single nucleotide variant
(nonsense +3 more)
Familial adenomatous polyposis 2
GPathogenic
MUTYH
Single nucleotide variant
(intron variant)
Familial adenomatous polyposis 2
GLikely benign
MUTYH
Deletion
(inframe_deletion +1 more)
Familial adenomatous polyposis 2
GUncertain significance
MUTYH
(F326L +12 more)
Single nucleotide variant
(missense variant +1 more)
Familial adenomatous polyposis 2
GUncertain significance
MUTYH
Single nucleotide variant
(intron variant)
Familial adenomatous polyposis 2
GLikely benign
MUTYH
(R106L +8 more)
Single nucleotide variant
(missense variant +2 more)
Familial adenomatous polyposis 2
GUncertain significance
MUTYH
Single nucleotide variant
(intron variant)
Familial adenomatous polyposis 2
GLikely benign
MUTYH
(P303L +12 more)
Single nucleotide variant
(missense variant +1 more)
Familial adenomatous polyposis 2
GUncertain significance
MUTYH
(M57L +4 more)
Single nucleotide variant
(missense variant +2 more)
Familial adenomatous polyposis 2
GUncertain significance
MUTYH, TOE1
Duplication
(5 prime UTR variant +1 more)
Familial adenomatous polyposis 2
GUncertain significance
MUTYH
Single nucleotide variant
(synonymous variant +1 more)
Familial adenomatous polyposis 2
GLikely benign
MUTYH
Single nucleotide variant
(intron variant)
Familial adenomatous polyposis 2
GLikely benign
MUTYH
(V221fs +12 more)
Deletion
(frameshift variant +1 more)
Familial adenomatous polyposis 2
GPathogenic
MUTYH
(V323G +12 more)
Single nucleotide variant
(missense variant +1 more)
Familial adenomatous polyposis 2
GUncertain significance
MUTYH
(H421Q +12 more)
Single nucleotide variant
(missense variant +1 more)
Familial adenomatous polyposis 2
GUncertain significance
MUTYH
Single nucleotide variant
(synonymous variant +1 more)
Familial adenomatous polyposis 2
GLikely benign
MUTYH
(Q131H +12 more)
Single nucleotide variant
(missense variant +1 more)
Familial adenomatous polyposis 2
GUncertain significance
MUTYH, TOE1
Single nucleotide variant
(intron variant +1 more)
Familial adenomatous polyposis 2
GLikely benign
MUTYH
Single nucleotide variant
(intron variant)
Familial adenomatous polyposis 2
GLikely benign
MUTYH
(R380G +12 more)
Single nucleotide variant
(missense variant +1 more)
Familial adenomatous polyposis 2
GUncertain significance
MUTYH
(G369R +12 more)
Single nucleotide variant
(missense variant +1 more)
Familial adenomatous polyposis 2
GUncertain significance
MUTYH
(K41R +2 more)
Single nucleotide variant
(missense variant +2 more)
Familial adenomatous polyposis 2
GUncertain significance
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