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Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CDKN1C
(R281I +2 more)
Single nucleotide variant
(missense variant)
IMAGe syndrome
Gnot provided
CDKN1C
(R279L +2 more)
Single nucleotide variant
(missense variant)
Beckwith-Wiedemann syndrome
GPathogenic
CDKN1C
(R279P +2 more)
Single nucleotide variant
(missense variant)
IMAGe syndrome
GPathogenic
CDKN1C
(R268S +2 more)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
CDKN1C
(K278E +1 more)
Single nucleotide variant
(missense variant +1 more)
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
CDKN1C
(I272S +1 more)
Single nucleotide variant
(missense variant +1 more)
IMAGe syndrome
Gnot provided
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