"Eurofins Ntd Llc (ga)"[submitter] AND "CDKN1C"[gene] - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 598319	NM_001122630.2(CDKN1C):c.852T>C (p.Cys284=)	CDKN1C (V107A)	Single nucleotide variant (synonymous variant +1 more)	Beckwith-Wiedemann syndrome +1 more	GConflicting classifications of pathogenicity
Select item 454024	NM_001122630.2(CDKN1C):c.669C>G (p.Gly223=)	CDKN1C	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 502675	NM_001122630.2(CDKN1C):c.656del (p.Gln219fs)	CDKN1C (Q230fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 236971	NM_001122630.2(CDKN1C):c.636C>T (p.Ser212=)	CDKN1C	Single nucleotide variant (synonymous variant +1 more)	Beckwith-Wiedemann syndrome +3 more	GBenign/Likely benign
Select item 236968	NM_001122630.2(CDKN1C):c.573GGCCCC[5] (p.186AP[11])	CDKN1C	Microsatellite (inframe_insertion +1 more)	Beckwith-Wiedemann syndrome +2 more	GConflicting classifications of pathogenicity
Select item 236967	NM_001122630.2(CDKN1C):c.573GGCCCC[3] (p.186AP[9])	CDKN1C	Indel (inframe_deletion +1 more)	not provided +3 more	GBenign/Likely benign
Select item 236965	NM_001122630.2(CDKN1C):c.573GGCCCC[2] (p.186AP[8])	CDKN1C	Deletion (inframe_deletion +1 more)	not specified +2 more	GBenign/Likely benign
Select item 193040	NM_001122630.2(CDKN1C):c.579G>A (p.Pro193=)	CDKN1C	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 524719	NM_001122630.2(CDKN1C):c.567_572del (p.186_187AP[9])	CDKN1C	Deletion (inframe_deletion +1 more)	not specified +1 more	GBenign/Likely benign
Select item 236964	NM_001122630.2(CDKN1C):c.567A>G (p.Pro189=)	CDKN1C	Single nucleotide variant (synonymous variant +1 more)	IMAGe syndrome +3 more	GBenign
Select item 454017	NM_001122630.2(CDKN1C):c.551T>C (p.Val184Ala)	CDKN1C (V195A +1 more)	Single nucleotide variant (missense variant +1 more)	Beckwith-Wiedemann syndrome +2 more	GConflicting classifications of pathogenicity
Select item 236958	NM_001122630.2(CDKN1C):c.522TCCGGC[2] (p.168AP[7])	CDKN1C	Microsatellite (inframe_deletion +1 more)	Beckwith-Wiedemann syndrome +2 more	GConflicting classifications of pathogenicity
Select item 158189	NM_001122630.2(CDKN1C):c.522T>C (p.Ala174=)	CDKN1C	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 193041	NM_001122630.2(CDKN1C):c.495G>C (p.Ala165=)	CDKN1C	Single nucleotide variant (synonymous variant +1 more)	Beckwith-Wiedemann syndrome +2 more	GBenign/Likely benign
Select item 193042	NM_001122630.2(CDKN1C):c.455CTCCGGTCGCGG[2] (p.152APVA[2])	CDKN1C	Microsatellite (inframe_deletion +1 more)	not specified +3 more	GBenign/Likely benign
Select item 236951	NM_001122630.2(CDKN1C):c.411G>A (p.Pro137=)	CDKN1C	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 502216	NM_001122630.2(CDKN1C):c.398del (p.Pro133fs)	CDKN1C (P133fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 254880	NM_001122630.2(CDKN1C):c.-11+60G>A	CDKN1C	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +2 more	GBenign/Likely benign