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Links from MedGen

Items: 69

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CDKN1C
(E274K +1 more)
Single nucleotide variant
(missense variant +1 more)
IMAGe syndrome
GUncertain significance
CDKN1C
Single nucleotide variant
(splice donor variant)
IMAGe syndrome
+1 more
GUncertain significance
CDKN1C
Single nucleotide variant
(intron variant)
Beckwith-Wiedemann syndrome
+1 more
GUncertain significance
CDKN1C
(T9I)
Single nucleotide variant
(missense variant +1 more)
IMAGe syndrome
+1 more
GUncertain significance
CDKN1C
(M58I +1 more)
Single nucleotide variant
(missense variant)
IMAGe syndrome
+1 more
GUncertain significance
CDKN1C
(W68C +1 more)
Single nucleotide variant
(missense variant)
Beckwith-Wiedemann syndrome
+1 more
GUncertain significance
CDKN1C
(P250S +1 more)
Single nucleotide variant
(missense variant +1 more)
Beckwith-Wiedemann syndrome
+1 more
GUncertain significance
CDKN1C
Single nucleotide variant
(synonymous variant)
Beckwith-Wiedemann syndrome
+1 more
GLikely benign
CDKN1C
(P110R +1 more)
Single nucleotide variant
(missense variant +1 more)
Beckwith-Wiedemann syndrome
+1 more
GUncertain significance
CDKN1C
Single nucleotide variant
(intron variant +1 more)
IMAGe syndrome
GLikely pathogenic
CDKN1C
(R268S +2 more)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
CDKN1C
(D263fs +2 more)
Indel
(frameshift variant)
Beckwith-Wiedemann syndrome
+1 more
GPathogenic
CDKN1C
(P220T +1 more)
Single nucleotide variant
(missense variant +1 more)
Beckwith-Wiedemann syndrome
+1 more
GUncertain significance
CDKN1C
(R118Q)
Single nucleotide variant
(synonymous variant +1 more)
Beckwith-Wiedemann syndrome
+1 more
GConflicting classifications of pathogenicity
CDKN1C
(P153A +1 more)
Single nucleotide variant
(missense variant +1 more)
IMAGe syndrome
+1 more
GUncertain significance
CDKN1C
Duplication
(inframe_insertion +1 more)
Beckwith-Wiedemann syndrome
+2 more
GUncertain significance
CDKN1C
(R44C +1 more)
Single nucleotide variant
(missense variant)
Beckwith-Wiedemann syndrome
+2 more
GUncertain significance
CDKN1C
Single nucleotide variant
(synonymous variant)
Beckwith-Wiedemann syndrome
+1 more
GLikely benign
CDKN1C
Single nucleotide variant
(synonymous variant +1 more)
Beckwith-Wiedemann syndrome
+1 more
GConflicting classifications of pathogenicity
CDKN1C
(R26G +1 more)
Single nucleotide variant
(missense variant)
Beckwith-Wiedemann syndrome
+2 more
GUncertain significance
CDKN1C
(A143V +1 more)
Single nucleotide variant
(missense variant +1 more)
Beckwith-Wiedemann syndrome
+1 more
GUncertain significance
CDKN1C
(A248S +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+3 more
GUncertain significance
CDKN1C
(A262T +1 more)
Single nucleotide variant
(missense variant +1 more)
IMAGe syndrome
+1 more
GUncertain significance
CDKN1C
(A17V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
CDKN1C
(T11A)
Single nucleotide variant
(missense variant +1 more)
Beckwith-Wiedemann syndrome
GUncertain significance
CDKN1C
(P292A +1 more)
Single nucleotide variant
(missense variant +1 more)
Beckwith-Wiedemann syndrome
+1 more
GUncertain significance
CDKN1C
(G248R +1 more)
Single nucleotide variant
(missense variant +1 more)
Beckwith-Wiedemann syndrome
+1 more
GUncertain significance
CDKN1C
(A251V +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GUncertain significance
CDKN1C
Single nucleotide variant
(synonymous variant +1 more)
Beckwith-Wiedemann syndrome
+1 more
GConflicting classifications of pathogenicity
CDKN1C
(P192R +1 more)
Single nucleotide variant
(missense variant +1 more)
Beckwith-Wiedemann syndrome
+2 more
GUncertain significance
CDKN1C
Single nucleotide variant
(synonymous variant)
Beckwith-Wiedemann syndrome
+1 more
GLikely benign
CDKN1C
Single nucleotide variant
(synonymous variant +1 more)
Beckwith-Wiedemann syndrome
+1 more
GLikely benign
CDKN1C
Single nucleotide variant
(synonymous variant +1 more)
Beckwith-Wiedemann syndrome
+1 more
GLikely benign
CDKN1C
Indel
(inframe_insertion +1 more)
Beckwith-Wiedemann syndrome
+1 more
GLikely benign
CDKN1C
(R76C +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
CDKN1C
(A209T +1 more)
Single nucleotide variant
(missense variant +1 more)
IMAGe syndrome
+1 more
GUncertain significance
CDKN1C
(P118A +1 more)
Single nucleotide variant
(missense variant +1 more)
Beckwith-Wiedemann syndrome
+3 more
GConflicting classifications of pathogenicity
CDKN1C
(A196P +1 more)
Single nucleotide variant
(missense variant +1 more)
Beckwith-Wiedemann syndrome
+1 more
GConflicting classifications of pathogenicity
CDKN1C
(R99P)
Single nucleotide variant
(synonymous variant +1 more)
IMAGe syndrome
+1 more
GLikely benign
CDKN1C
(A283V +2 more)
Single nucleotide variant
(missense variant)
Beckwith-Wiedemann syndrome
+1 more
GUncertain significance
CDKN1C
(P270T +1 more)
Single nucleotide variant
(missense variant +1 more)
IMAGe syndrome
+1 more
GUncertain significance
CDKN1C
(A257S +1 more)
Single nucleotide variant
(missense variant +1 more)
Beckwith-Wiedemann syndrome
+2 more
GConflicting classifications of pathogenicity
CDKN1C
Indel
(inframe_insertion +1 more)
IMAGe syndrome
+1 more
GLikely benign
CDKN1C
(V195A +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
CDKN1C
(P117R +1 more)
Single nucleotide variant
(missense variant +1 more)
Beckwith-Wiedemann syndrome
+1 more
GUncertain significance
CDKN1C
(P117S +1 more)
Single nucleotide variant
(missense variant +1 more)
IMAGe syndrome
+1 more
GUncertain significance
CDKN1C
(R44L +1 more)
Single nucleotide variant
(missense variant)
IMAGe syndrome
+1 more
GUncertain significance
CDKN1C
Single nucleotide variant
(intron variant +1 more)
Beckwith-Wiedemann syndrome
+1 more
GBenign/Likely benign
CDKN1C
Single nucleotide variant
(synonymous variant)
Beckwith-Wiedemann syndrome
+2 more
GLikely benign
CDKN1C
Single nucleotide variant
(synonymous variant +1 more)
not provided
+2 more
GBenign/Likely benign
CDKN1C
(P118L +1 more)
Single nucleotide variant
(missense variant +1 more)
CDKN1C-related disorder
+4 more
GBenign/Likely benign
CDKN1C
(P296S +1 more)
Single nucleotide variant
(missense variant +1 more)
IMAGe syndrome
+2 more
GConflicting classifications of pathogenicity
CDKN1C
(A215D +1 more)
Single nucleotide variant
(missense variant +1 more)
Beckwith-Wiedemann syndrome
+1 more
GUncertain significance
CDKN1C
Duplication
(intron variant)
not provided
+3 more
GBenign
CDKN1C
(R281I +2 more)
Single nucleotide variant
(missense variant)
IMAGe syndrome
Gnot provided
CDKN1C
(A257G +1 more)
Single nucleotide variant
(missense variant +1 more)
Beckwith-Wiedemann syndrome
+1 more
GUncertain significance
CDKN1C
Single nucleotide variant
(synonymous variant +1 more)
Beckwith-Wiedemann syndrome
+4 more
GBenign/Likely benign
CDKN1C
Indel
(inframe_deletion +1 more)
not specified
+3 more
GBenign/Likely benign
CDKN1C
Single nucleotide variant
(synonymous variant +1 more)
not specified
+3 more
GBenign
CDKN1C
Single nucleotide variant
(synonymous variant)
Beckwith-Wiedemann syndrome
+2 more
GBenign/Likely benign
CDKN1C
Single nucleotide variant
(5 prime UTR variant +1 more)
Beckwith-Wiedemann syndrome
+2 more
GConflicting classifications of pathogenicity
CDKN1C
Single nucleotide variant
(5 prime UTR variant)
not provided
+2 more
GConflicting classifications of pathogenicity
CDKN1C
(R279L +2 more)
Single nucleotide variant
(missense variant)
Beckwith-Wiedemann syndrome
GPathogenic
CDKN1C
(I272S +1 more)
Single nucleotide variant
(missense variant +1 more)
IMAGe syndrome
Gnot provided
CDKN1C
(K278E +1 more)
Single nucleotide variant
(missense variant +1 more)
IMAGe syndrome
GPathogenic
CDKN1C
(D274N +1 more)
Single nucleotide variant
(missense variant +1 more)
Beckwith-Wiedemann syndrome
+1 more
GPathogenic
CDKN1C
(R279P +2 more)
Single nucleotide variant
(missense variant)
IMAGe syndrome
GPathogenic
CDKN1C
(F276S +2 more)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
CDKN1C
(F276V +1 more)
Single nucleotide variant
(missense variant +1 more)
IMAGe syndrome
GPathogenic
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