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Links from MedGen

Items: 1 to 100 of 1334

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CDKN1C
Single nucleotide variant
(synonymous variant +1 more)
Beckwith-Wiedemann syndrome
GLikely benign
CDKN1C
Single nucleotide variant
(synonymous variant +1 more)
Beckwith-Wiedemann syndrome
GLikely benign
CDKN1C
(L42V +1 more)
Single nucleotide variant
(missense variant)
Beckwith-Wiedemann syndrome
GUncertain significance
CDKN1C
(P180S +1 more)
Single nucleotide variant
(missense variant +1 more)
Beckwith-Wiedemann syndrome
GUncertain significance
CDKN1C
Single nucleotide variant
(synonymous variant +1 more)
Beckwith-Wiedemann syndrome
GLikely benign
CDKN1C
(A202G +1 more)
Single nucleotide variant
(missense variant +1 more)
Beckwith-Wiedemann syndrome
GUncertain significance
CDKN1C
Single nucleotide variant
(synonymous variant +1 more)
Beckwith-Wiedemann syndrome
GLikely benign
CDKN1C
(A161V +1 more)
Single nucleotide variant
(missense variant +1 more)
Beckwith-Wiedemann syndrome
GUncertain significance
CDKN1C
(A134E +1 more)
Single nucleotide variant
(missense variant +1 more)
Beckwith-Wiedemann syndrome
GUncertain significance
CDKN1C
(P214S +1 more)
Single nucleotide variant
(missense variant +1 more)
Beckwith-Wiedemann syndrome
GUncertain significance
CDKN1C
(A202S +1 more)
Single nucleotide variant
(missense variant +1 more)
Beckwith-Wiedemann syndrome
GUncertain significance
CDKN1C
(P250L +1 more)
Single nucleotide variant
(missense variant +1 more)
Beckwith-Wiedemann syndrome
GUncertain significance
CDKN1C
(P160R +1 more)
Single nucleotide variant
(missense variant +1 more)
Beckwith-Wiedemann syndrome
GUncertain significance
CDKN1C
(D206G +1 more)
Single nucleotide variant
(missense variant +1 more)
Beckwith-Wiedemann syndrome
GUncertain significance
CDKN1C
(R281T +2 more)
Single nucleotide variant
(missense variant)
Beckwith-Wiedemann syndrome
GUncertain significance
CDKN1C
Single nucleotide variant
(synonymous variant)
Beckwith-Wiedemann syndrome
GLikely benign
CDKN1C
Single nucleotide variant
(synonymous variant)
Beckwith-Wiedemann syndrome
GLikely benign
CDKN1C
(G220R +1 more)
Single nucleotide variant
(missense variant +1 more)
Beckwith-Wiedemann syndrome
GUncertain significance
CDKN1C
Duplication
(inframe_insertion +1 more)
Beckwith-Wiedemann syndrome
GUncertain significance
CDKN1C
(S75L +1 more)
Single nucleotide variant
(missense variant)
Beckwith-Wiedemann syndrome
GUncertain significance
CDKN1C
Single nucleotide variant
(intron variant)
Beckwith-Wiedemann syndrome
GUncertain significance
CDKN1C
(P129L +1 more)
Single nucleotide variant
(missense variant +1 more)
Beckwith-Wiedemann syndrome
GUncertain significance
CDKN1C
(A200S +1 more)
Single nucleotide variant
(missense variant +1 more)
Beckwith-Wiedemann syndrome
GUncertain significance
CDKN1C
Single nucleotide variant
(synonymous variant +1 more)
Beckwith-Wiedemann syndrome
GLikely benign
CDKN1C
(Q298H +2 more)
Single nucleotide variant
(missense variant)
Beckwith-Wiedemann syndrome
GUncertain significance
CDKN1C
(P36S +1 more)
Single nucleotide variant
(missense variant)
Beckwith-Wiedemann syndrome
GUncertain significance
CDKN1C
(R49L +1 more)
Single nucleotide variant
(missense variant)
Beckwith-Wiedemann syndrome
GUncertain significance
CDKN1C
Indel
(inframe_insertion +1 more)
Beckwith-Wiedemann syndrome
GLikely benign
CDKN1C
(P150T +1 more)
Single nucleotide variant
(missense variant +1 more)
Beckwith-Wiedemann syndrome
GUncertain significance
CDKN1C
(V111A +1 more)
Single nucleotide variant
(missense variant +1 more)
Beckwith-Wiedemann syndrome
GUncertain significance
CDKN1C
Duplication
(inframe_insertion +1 more)
Beckwith-Wiedemann syndrome
GUncertain significance
CDKN1C
Single nucleotide variant
(synonymous variant +1 more)
Beckwith-Wiedemann syndrome
GLikely benign
CDKN1C
(S212R +1 more)
Single nucleotide variant
(missense variant +1 more)
Beckwith-Wiedemann syndrome
GUncertain significance
CDKN1C
(N249H +1 more)
Single nucleotide variant
(missense variant +1 more)
Beckwith-Wiedemann syndrome
GUncertain significance
CDKN1C
(E274* +1 more)
Single nucleotide variant
(nonsense +1 more)
Beckwith-Wiedemann syndrome
GPathogenic
CDKN1C
(F65fs +1 more)
Deletion
(frameshift variant)
Beckwith-Wiedemann syndrome
GPathogenic
CDKN1C
Single nucleotide variant
(synonymous variant +1 more)
Beckwith-Wiedemann syndrome
GLikely benign
CDKN1C
(P113S +2 more)
Single nucleotide variant
(missense variant)
Beckwith-Wiedemann syndrome
GUncertain significance
CDKN1C
(H243P +1 more)
Single nucleotide variant
(missense variant +1 more)
Beckwith-Wiedemann syndrome
GUncertain significance
CDKN1C
(P108A +2 more)
Single nucleotide variant
(missense variant)
Beckwith-Wiedemann syndrome
GUncertain significance
CDKN1C
Single nucleotide variant
(synonymous variant +1 more)
Beckwith-Wiedemann syndrome
GLikely benign
CDKN1C
(A37D +1 more)
Single nucleotide variant
(missense variant)
Beckwith-Wiedemann syndrome
GUncertain significance
CDKN1C
Deletion
(intron variant +1 more)
Beckwith-Wiedemann syndrome
GUncertain significance
CDKN1C
(Q232fs +1 more)
Deletion
(frameshift variant +1 more)
Beckwith-Wiedemann syndrome
GPathogenic
CDKN1C
(D290G +2 more)
Single nucleotide variant
(missense variant)
Beckwith-Wiedemann syndrome
GUncertain significance
CDKN1C
(Y52D +1 more)
Single nucleotide variant
(missense variant)
Beckwith-Wiedemann syndrome
GUncertain significance
CDKN1C
(A159G +1 more)
Single nucleotide variant
(missense variant +1 more)
Beckwith-Wiedemann syndrome
GUncertain significance
CDKN1C
(A183T +1 more)
Single nucleotide variant
(missense variant +1 more)
Beckwith-Wiedemann syndrome
GUncertain significance
CDKN1C
(A263T +1 more)
Single nucleotide variant
(missense variant +1 more)
Beckwith-Wiedemann syndrome
GUncertain significance
CDKN1C
Single nucleotide variant
(synonymous variant +1 more)
Beckwith-Wiedemann syndrome
GLikely benign
CDKN1C
(A244fs +1 more)
Deletion
(frameshift variant +1 more)
Beckwith-Wiedemann syndrome
GPathogenic
CDKN1C
(D68A +1 more)
Single nucleotide variant
(missense variant)
Beckwith-Wiedemann syndrome
GUncertain significance
CDKN1C
(D229N +1 more)
Single nucleotide variant
(missense variant +1 more)
Beckwith-Wiedemann syndrome
GUncertain significance
CDKN1C
(P193Q +1 more)
Single nucleotide variant
(intron variant +1 more)
Beckwith-Wiedemann syndrome
GUncertain significance
CDKN1C
Deletion
(inframe_deletion +1 more)
Beckwith-Wiedemann syndrome
GUncertain significance
CDKN1C
(A156P +1 more)
Single nucleotide variant
(intron variant +1 more)
Beckwith-Wiedemann syndrome
GUncertain significance
CDKN1C
(Q224R +1 more)
Single nucleotide variant
(missense variant +1 more)
Beckwith-Wiedemann syndrome
GUncertain significance
CDKN1C
Single nucleotide variant
(synonymous variant)
Beckwith-Wiedemann syndrome
GLikely benign
CDKN1C
(M69V +1 more)
Single nucleotide variant
(missense variant)
Beckwith-Wiedemann syndrome
GUncertain significance
CDKN1C
Single nucleotide variant
(synonymous variant +1 more)
Beckwith-Wiedemann syndrome
GLikely benign
CDKN1C
(A123T +1 more)
Single nucleotide variant
(intron variant +1 more)
Beckwith-Wiedemann syndrome
GUncertain significance
CDKN1C
Single nucleotide variant
(synonymous variant +1 more)
Beckwith-Wiedemann syndrome
GLikely benign
CDKN1C
(P214A +1 more)
Single nucleotide variant
(missense variant +1 more)
Beckwith-Wiedemann syndrome
GUncertain significance
CDKN1C
(A213T +1 more)
Single nucleotide variant
(missense variant +1 more)
Beckwith-Wiedemann syndrome
GUncertain significance
CDKN1C
(P259A +1 more)
Single nucleotide variant
(missense variant +1 more)
Beckwith-Wiedemann syndrome
GUncertain significance
CDKN1C
(P283L +2 more)
Single nucleotide variant
(missense variant)
Beckwith-Wiedemann syndrome
GUncertain significance
CDKN1C
Deletion
(inframe_deletion +1 more)
Beckwith-Wiedemann syndrome
GLikely benign
CDKN1C
Single nucleotide variant
(synonymous variant +1 more)
Beckwith-Wiedemann syndrome
GLikely benign
CDKN1C
Single nucleotide variant
(intron variant)
Beckwith-Wiedemann syndrome
GUncertain significance
CDKN1C
(G24R +1 more)
Single nucleotide variant
(missense variant)
Beckwith-Wiedemann syndrome
GUncertain significance
CDKN1C
(I235V +1 more)
Single nucleotide variant
(intron variant +1 more)
Beckwith-Wiedemann syndrome
GUncertain significance
CDKN1C
(I253S +1 more)
Single nucleotide variant
(missense variant +1 more)
Beckwith-Wiedemann syndrome
GUncertain significance
CDKN1C
(S247T +1 more)
Single nucleotide variant
(intron variant +1 more)
Beckwith-Wiedemann syndrome
GUncertain significance
CDKN1C
(P181fs +1 more)
Deletion
(frameshift variant +1 more)
Beckwith-Wiedemann syndrome
GPathogenic
CDKN1C
Single nucleotide variant
(synonymous variant +1 more)
Beckwith-Wiedemann syndrome
GLikely benign
CDKN1C
(A99fs +1 more)
Deletion
(frameshift variant +1 more)
Beckwith-Wiedemann syndrome
GPathogenic
CDKN1C
(V14fs +1 more)
Deletion
(frameshift variant)
Beckwith-Wiedemann syndrome
GPathogenic
CDKN1C
(A40T +1 more)
Single nucleotide variant
(missense variant)
Beckwith-Wiedemann syndrome
GUncertain significance
CDKN1C
Deletion
(inframe_deletion +1 more)
Beckwith-Wiedemann syndrome
GLikely benign
CDKN1C
(S135C +1 more)
Single nucleotide variant
(missense variant +1 more)
Beckwith-Wiedemann syndrome
GUncertain significance
CDKN1C
(A208E +1 more)
Single nucleotide variant
(missense variant +1 more)
Beckwith-Wiedemann syndrome
GUncertain significance
CDKN1C
(P187S +1 more)
Single nucleotide variant
(missense variant +1 more)
Beckwith-Wiedemann syndrome
GUncertain significance
CDKN1C
Duplication
(inframe_insertion +1 more)
Beckwith-Wiedemann syndrome
GUncertain significance
CDKN1C
(P122R)
Single nucleotide variant
(synonymous variant +1 more)
Beckwith-Wiedemann syndrome
GLikely benign
CDKN1C
(A181G +1 more)
Single nucleotide variant
(missense variant +1 more)
Beckwith-Wiedemann syndrome
GUncertain significance
CDKN1C
Single nucleotide variant
(synonymous variant +1 more)
Beckwith-Wiedemann syndrome
GLikely benign
CDKN1C
(Q298E +2 more)
Single nucleotide variant
(missense variant)
Beckwith-Wiedemann syndrome
GUncertain significance
CDKN1C
Single nucleotide variant
(synonymous variant)
Beckwith-Wiedemann syndrome
GLikely benign
CDKN1C
(R99fs +1 more)
Duplication
(frameshift variant +1 more)
Beckwith-Wiedemann syndrome
GPathogenic
CDKN1C
(A166S +1 more)
Indel
(missense variant +1 more)
Beckwith-Wiedemann syndrome
GUncertain significance
CDKN1C
Indel
(inframe_insertion +1 more)
Beckwith-Wiedemann syndrome
GLikely benign
CDKN1C
Single nucleotide variant
(intron variant)
Beckwith-Wiedemann syndrome
GLikely benign
CDKN1C
Single nucleotide variant
(intron variant)
Beckwith-Wiedemann syndrome
GLikely benign
CDKN1C
Single nucleotide variant
(synonymous variant +1 more)
Beckwith-Wiedemann syndrome
GLikely benign
CDKN1C
(G234S +1 more)
Single nucleotide variant
(missense variant +1 more)
Beckwith-Wiedemann syndrome
GUncertain significance
CDKN1C
(P177A +1 more)
Single nucleotide variant
(missense variant +1 more)
Beckwith-Wiedemann syndrome
GUncertain significance
CDKN1C
Microsatellite
(inframe_insertion +1 more)
Beckwith-Wiedemann syndrome
GUncertain significance
CDKN1C
(Q230E +1 more)
Single nucleotide variant
(missense variant +1 more)
Beckwith-Wiedemann syndrome
GUncertain significance
CDKN1C
(S87fs +2 more)
Insertion
(frameshift variant)
Beckwith-Wiedemann syndrome
GPathogenic
CDKN1C
Single nucleotide variant
(synonymous variant +1 more)
Beckwith-Wiedemann syndrome
GLikely benign
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