"Sema4, Sema4"[submitter] AND "CDKN1C"[gene] - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1692138	NM_001122630.2(CDKN1C):c.*5+20G>T	CDKN1C	Single nucleotide variant (intron variant)	Beckwith-Wiedemann syndrome +1 more	GUncertain significance
Select item 1692137	NM_001122630.2(CDKN1C):c.5+19_5+20insA	CDKN1C	Insertion (intron variant)	Beckwith-Wiedemann syndrome	GLikely benign
Select item 412848	NM_001122630.2(CDKN1C):c.885G>C (p.Ser295=)	CDKN1C (R118P)	Single nucleotide variant (synonymous variant +1 more)	Beckwith-Wiedemann syndrome	GLikely benign
Select item 404249	NM_001122630.2(CDKN1C):c.853C>T (p.Pro285Ser)	CDKN1C (P296S +1 more)	Single nucleotide variant (missense variant +1 more)	Beckwith-Wiedemann syndrome +2 more	GConflicting classifications of pathogenicity
Select item 454032	NM_001122630.2(CDKN1C):c.771C>T (p.Ser257=)	CDKN1C	Single nucleotide variant (intron variant +1 more)	Beckwith-Wiedemann syndrome	GLikely benign
Select item 454031	NM_001122630.2(CDKN1C):c.736G>T (p.Ala246Ser)	CDKN1C (A257S +1 more)	Single nucleotide variant (missense variant +1 more)	Beckwith-Wiedemann syndrome +2 more	GConflicting classifications of pathogenicity
Select item 412851	NM_001122630.2(CDKN1C):c.702G>A (p.Gly234=)	CDKN1C	Single nucleotide variant (synonymous variant +1 more)	Beckwith-Wiedemann syndrome +2 more	GBenign/Likely benign
Select item 236971	NM_001122630.2(CDKN1C):c.636C>T (p.Ser212=)	CDKN1C	Single nucleotide variant (synonymous variant +1 more)	not specified +4 more	GBenign/Likely benign
Select item 236966	NM_001122630.2(CDKN1C):c.587_616del (p.186_187AP[5])	CDKN1C	Deletion (inframe_deletion +1 more)	Beckwith-Wiedemann syndrome	GLikely benign
Select item 236968	NM_001122630.2(CDKN1C):c.573GGCCCC[5] (p.186AP[11])	CDKN1C	Microsatellite (inframe_insertion +1 more)	not specified +3 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 provided +2 more	GBenign/Likely benign
Select item 236963	NM_001122630.2(CDKN1C):c.567_590del (p.186_187AP[6])	CDKN1C	Indel (inframe_deletion +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 236961	NM_001122630.2(CDKN1C):c.567_578dup (p.186_187AP[12])	CDKN1C	Indel (inframe_insertion +1 more)	not provided +1 more	GBenign/Likely benign
Select item 193040	NM_001122630.2(CDKN1C):c.579G>A (p.Pro193=)	CDKN1C	Single nucleotide variant (synonymous variant +1 more)	CDKN1C-related condition +2 more	GConflicting classifications of pathogenicity
Select item 236960	NM_001122630.2(CDKN1C):c.567_578del (p.186_187AP[8])	CDKN1C	Indel (inframe_deletion +1 more)	not specified +4 more	GBenign/Likely benign
Select item 524719	NM_001122630.2(CDKN1C):c.567_572del (p.186_187AP[9])	CDKN1C	Deletion (inframe_deletion +1 more)	not specified +2 more	GBenign/Likely benign
Select item 236964	NM_001122630.2(CDKN1C):c.567A>G (p.Pro189=)	CDKN1C	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GBenign
Select item 236956	NM_001122630.2(CDKN1C):c.525_548del (p.168_169AP[4])	CDKN1C	Deletion (inframe_deletion +1 more)	Inborn genetic diseases +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)	CDKN1C-related condition +4 more	GBenign/Likely benign
Select item 236955	NM_001122630.2(CDKN1C):c.504CCCGGC[1] (p.168AP[6])	CDKN1C	Microsatellite (inframe_deletion +1 more)	not provided +2 more	GLikely benign
Select item 454009	NM_001122630.2(CDKN1C):c.487GCGGTC[3] (p.163AV[3])	CDKN1C	Microsatellite (inframe_insertion +1 more)	Beckwith-Wiedemann syndrome	GConflicting classifications of pathogenicity
Select item 193041	NM_001122630.2(CDKN1C):c.495G>C (p.Ala165=)	CDKN1C	Single nucleotide variant (synonymous variant +1 more)	CDKN1C-related condition +3 more	GBenign/Likely benign
Select item 454008	NM_001122630.2(CDKN1C):c.455CTCCGGTCGCGG[4] (p.152APVA[4])	CDKN1C	Microsatellite (inframe_insertion +1 more)	not provided +3 more	GLikely benign
Select item 193042	NM_001122630.2(CDKN1C):c.455CTCCGGTCGCGG[2] (p.152APVA[2])	CDKN1C	Microsatellite (inframe_deletion +1 more)	Beckwith-Wiedemann syndrome +3 more	GBenign/Likely benign
Select item 524731	NM_001122630.2(CDKN1C):c.455_472del (p.Ala152_Pro157del)	CDKN1C	Deletion (inframe_deletion +1 more)	Beckwith-Wiedemann syndrome	GConflicting classifications of pathogenicity
Select item 236952	NM_001122630.2(CDKN1C):c.423G>A (p.Pro141=)	CDKN1C	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 404247	NM_001122630.2(CDKN1C):c.367G>C (p.Glu123Gln)	CDKN1C (E134Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 642609	NM_001122630.2(CDKN1C):c.334G>T (p.Ala112Ser)	CDKN1C (A123S +1 more)	Single nucleotide variant (missense variant +1 more)	Beckwith-Wiedemann syndrome	GUncertain significance
Select item 404254	NM_001122630.2(CDKN1C):c.320C>T (p.Pro107Leu)	CDKN1C (P118L +1 more)	Single nucleotide variant (missense variant +1 more)	Beckwith-Wiedemann syndrome +4 more	GBenign/Likely benign
Select item 524734	NM_001122630.2(CDKN1C):c.303G>C (p.Ala101=)	CDKN1C	Single nucleotide variant (synonymous variant +1 more)	Beckwith-Wiedemann syndrome	GLikely benign
Select item 236949	NM_001122630.2(CDKN1C):c.99C>T (p.Arg33=)	CDKN1C	Single nucleotide variant (synonymous variant)	Beckwith-Wiedemann syndrome +2 more	GBenign/Likely benign
Select item 236973	NM_001122630.2(CDKN1C):c.39A>G (p.Leu13=)	CDKN1C	Single nucleotide variant (synonymous variant)	Beckwith-Wiedemann syndrome	GConflicting classifications of pathogenicity
Select item 648099	NM_001122630.2(CDKN1C):c.11T>C (p.Leu4Pro)	CDKN1C (L15P +1 more)	Single nucleotide variant (missense variant)	Beckwith-Wiedemann syndrome	GUncertain significance
Select item 236948	NM_001122630.2(CDKN1C):c.-11+61G>A	CDKN1C	Single nucleotide variant (5 prime UTR variant +1 more)	Beckwith-Wiedemann syndrome +2 more	GConflicting classifications of pathogenicity
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
Select item 236947	NM_001122630.2(CDKN1C):c.-132G>A	CDKN1C	Single nucleotide variant (5 prime UTR variant)	not provided +2 more	GConflicting classifications of pathogenicity

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Items: 37