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Items: 18

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CDKN1C
(V107A)
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
CDKN1C
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
CDKN1C
(Q230fs +1 more)
Deletion
(frameshift variant +1 more)
not provided
GPathogenic
CDKN1C
Single nucleotide variant
(synonymous variant +1 more)
not specified
+4 more
GBenign/Likely benign
CDKN1C
Microsatellite
(inframe_insertion +1 more)
not specified
+3 more
GConflicting classifications of pathogenicity
CDKN1C
Indel
(inframe_deletion +1 more)
not specified
+3 more
GBenign/Likely benign
CDKN1C
Deletion
(inframe_deletion +1 more)
not provided
+2 more
GBenign/Likely benign
CDKN1C
Single nucleotide variant
(synonymous variant +1 more)
CDKN1C-related condition
+2 more
GConflicting classifications of pathogenicity
CDKN1C
Deletion
(inframe_deletion +1 more)
not specified
+2 more
GBenign/Likely benign
CDKN1C
Single nucleotide variant
(synonymous variant +1 more)
not specified
+3 more
GBenign
CDKN1C
(V195A +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
CDKN1C
Microsatellite
(inframe_deletion +1 more)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
CDKN1C
Single nucleotide variant
(synonymous variant +1 more)
not specified
+4 more
GBenign/Likely benign
CDKN1C
Single nucleotide variant
(synonymous variant +1 more)
CDKN1C-related condition
+3 more
GBenign/Likely benign
CDKN1C
Microsatellite
(inframe_deletion +1 more)
Beckwith-Wiedemann syndrome
+3 more
GBenign/Likely benign
CDKN1C
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
CDKN1C
(P133fs +1 more)
Deletion
(frameshift variant +1 more)
not provided
GPathogenic
CDKN1C
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
+2 more
GBenign/Likely benign
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