"GeneDx"[submitter] AND "CDKN1C"[gene] - ClinVar

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Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151263	GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)x3	DENND5A, DNHD1 +723 more	Copy number gain	See cases	GPathogenic
Select item 59748	GRCh38/hg38 11p15.5-15.4(chr11:218365-3377077)x3	ANO9, AP2A2 +266 more	Copy number gain	See cases	GPathogenic
Select item 254879	NM_001122630.2(CDKN1C):c.*5+18dup	CDKN1C	Duplication (intron variant)	not provided +2 more	GBenign
Select item 1810670	NM_001122630.2(CDKN1C):c.884C>A (p.Ser295Ter)	CDKN1C (S295* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 1878991	NM_001122630.2(CDKN1C):c.854C>A (p.Pro285His)	CDKN1C (P108T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 580168	NM_001122630.2(CDKN1C):c.841C>G (p.Pro281Ala)	CDKN1C (P292A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 18445	NM_001122630.2(CDKN1C):c.812C>G (p.Ser271Ter)	CDKN1C (S282* +2 more)	Single nucleotide variant (nonsense +1 more)	Beckwith-Wiedemann syndrome +1 more	GPathogenic/Likely pathogenic
Select item 3253443	NM_001122630.2(CDKN1C):c.803G>A (p.Arg268His)	CDKN1C (A91T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3376101	NM_001122630.2(CDKN1C):c.800A>T (p.Lys267Met)	CDKN1C (K267M +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1037097	NM_001122630.2(CDKN1C):c.797C>T (p.Ala266Val)	CDKN1C (P89S +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1301497	NM_001122630.2(CDKN1C):c.787+142C>T	CDKN1C	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 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 1329632	NM_001122630.2(CDKN1C):c.590del (p.Pro197fs)	CDKN1C (P197fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 236960	NM_001122630.2(CDKN1C):c.567_578del (p.186_187AP[8])	CDKN1C	Indel (inframe_deletion +1 more)	Inborn genetic diseases +3 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 254881	NM_001122630.2(CDKN1C):c.534T>C (p.Ala178=)	CDKN1C	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GLikely benign
Select item 1313763	NM_001122630.2(CDKN1C):c.522_523insGCGGCT (p.Ala174_Pro175insAlaAla)	CDKN1C	Insertion (inframe_insertion +1 more)	not provided	GUncertain significance
Select item 412842	NM_001122630.2(CDKN1C):c.504CCCGGC[4] (p.168AP[9])	CDKN1C	Microsatellite (inframe_insertion +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 412857	NM_001122630.2(CDKN1C):c.504CCCGGC[2] (p.168AP[7])	CDKN1C	Microsatellite (inframe_deletion +1 more)	not provided +2 more	GBenign/Likely benign
Select item 1394706	NM_001122630.2(CDKN1C):c.518C>T (p.Pro173Leu)	CDKN1C (P173L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
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 848902	NM_001122630.2(CDKN1C):c.425_442dup (p.Val142_Pro147dup)	CDKN1C	Duplication (inframe_insertion +1 more)	IMAGe syndrome +2 more	GUncertain significance
Select item 957084	NM_001122630.2(CDKN1C):c.385C>T (p.Pro129Ser)	CDKN1C (P129S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1003747	NM_001122630.2(CDKN1C):c.327G>C (p.Glu109Asp)	CDKN1C (E109D +1 more)	Single nucleotide variant (missense variant +1 more)	Beckwith-Wiedemann syndrome +1 more	GUncertain significance
Select item 524697	NM_001122630.2(CDKN1C):c.319C>G (p.Pro107Ala)	CDKN1C (P118A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 2580033	NM_001122630.2(CDKN1C):c.239A>G (p.Tyr80Cys)	CDKN1C (Y80C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252784	NM_001122630.2(CDKN1C):c.193C>A (p.Arg65Ser)	CDKN1C (R65S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 524709	NM_001122630.2(CDKN1C):c.193C>T (p.Arg65Cys)	CDKN1C (R76C +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1810601	NM_001122630.2(CDKN1C):c.187C>T (p.Pro63Ser)	CDKN1C (P63S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 132842	NM_001122630.2(CDKN1C):c.176C>T (p.Pro59Leu)	CDKN1C (P70L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1477920	NM_001122630.2(CDKN1C):c.165G>T (p.Gln55His)	CDKN1C (Q66H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 870570	NM_001122630.2(CDKN1C):c.100G>A (p.Glu34Lys)	CDKN1C (E34K +1 more)	Single nucleotide variant (missense variant)	Beckwith-Wiedemann syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1695773	NM_001122630.2(CDKN1C):c.88_89delinsTT (p.Glu30Leu)	CDKN1C (E30L +1 more)	Indel (missense variant)	Beckwith-Wiedemann syndrome +1 more	GUncertain significance
Select item 2413106	NM_001122630.2(CDKN1C):c.65T>G (p.Leu22Arg)	CDKN1C (L22R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 524716	NM_001122630.2(CDKN1C):c.58C>A (p.Arg20Ser)	CDKN1C (R31S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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)	Beckwith-Wiedemann syndrome +2 more	GConflicting classifications of pathogenicity

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Items: 39