"PreventionGenetics, part of Exact Sciences"[submitter] AND "CDKN1C"[g - ClinVar

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Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3039744	NM_001122630.2(CDKN1C):c.*6-4G>A	CDKN1C	Single nucleotide variant (intron variant)	CDKN1C-related condition	GLikely benign
Select item 3052883	NM_001122630.2(CDKN1C):c.*6-5C>T	CDKN1C	Single nucleotide variant (intron variant)	CDKN1C-related condition	GLikely benign
Select item 254879	NM_001122630.2(CDKN1C):c.*5+18dup	CDKN1C	Duplication (intron variant)	not provided +3 more	GBenign
Select item 3030749	NM_001122630.2(CDKN1C):c.*5+15C>T	CDKN1C	Single nucleotide variant (intron variant)	CDKN1C-related condition	GLikely benign
Select item 3050607	NM_001122630.2(CDKN1C):c.*5+13C>T	CDKN1C	Single nucleotide variant (intron variant)	CDKN1C-related condition	GLikely benign
Select item 524713	NM_001122630.2(CDKN1C):c.876C>T (p.Gly292=)	CDKN1C (A115V)	Single nucleotide variant (synonymous variant +1 more)	Beckwith-Wiedemann syndrome +1 more	GLikely benign
Select item 524692	NM_001122630.2(CDKN1C):c.827C>T (p.Ser276Leu)	CDKN1C (S287L +2 more)	Single nucleotide variant (missense variant)	Beckwith-Wiedemann syndrome +1 more	GUncertain significance
Select item 2630051	NM_001122630.2(CDKN1C):c.812_815dup (p.Pro273fs)	CDKN1C (P273fs +2 more)	Duplication (frameshift variant)	CDKN1C-related condition	GLikely pathogenic
Select item 1598136	NM_001122630.2(CDKN1C):c.787+7C>A	CDKN1C	Single nucleotide variant (intron variant)	CDKN1C-related condition +1 more	GLikely benign
Select item 999688	NM_001122630.2(CDKN1C):c.725_736del (p.Gly242_Ala245del)	CDKN1C	Deletion (inframe_deletion +1 more)	CDKN1C-related condition +1 more	GUncertain significance
Select item 158190	NM_001122630.2(CDKN1C):c.675G>A (p.Glu225=)	CDKN1C	Single nucleotide variant (synonymous variant +1 more)	Beckwith-Wiedemann syndrome +1 more	GBenign/Likely benign
Select item 210647	NM_001122630.2(CDKN1C):c.661C>T (p.Gln221Ter)	CDKN1C (Q232* +1 more)	Single nucleotide variant (nonsense +1 more)	CDKN1C-related condition +1 more	GPathogenic
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 412856	NM_001122630.2(CDKN1C):c.597_614del (p.186_187AP[7])	CDKN1C	Deletion (inframe_deletion +1 more)	Beckwith-Wiedemann syndrome +1 more	GLikely benign
Select item 524721	NM_001122630.2(CDKN1C):c.597_608dup (p.186_187AP[12])	CDKN1C	Duplication (inframe_insertion +1 more)	Beckwith-Wiedemann syndrome +1 more	GConflicting classifications of pathogenicity
Select item 236968	NM_001122630.2(CDKN1C):c.573GGCCCC[5] (p.186AP[11])	CDKN1C	Microsatellite (inframe_insertion +1 more)	CDKN1C-related condition +3 more	GConflicting classifications of pathogenicity
Select item 3046792	NM_001122630.2(CDKN1C):c.596C>G (p.Pro199Arg)	CDKN1C (P199R +1 more)	Single nucleotide variant (missense variant +1 more)	CDKN1C-related condition	GUncertain significance
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 3049537	NM_001122630.2(CDKN1C):c.546_593del (p.Val184_Pro199del)	CDKN1C	Deletion (inframe deletion +1 more)	CDKN1C-related condition	GLikely benign
Select item 1093447	NM_001122630.2(CDKN1C):c.522_587dup (p.Val184_Pro205dup)	CDKN1C	Indel (inframe_insertion +1 more)	Beckwith-Wiedemann syndrome +1 more	GLikely benign
Select item 193040	NM_001122630.2(CDKN1C):c.579G>A (p.Pro193=)	CDKN1C	Single nucleotide variant (synonymous variant +1 more)	Beckwith-Wiedemann syndrome +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)	Beckwith-Wiedemann syndrome +4 more	GBenign/Likely benign
Select item 580594	NM_001122630.2(CDKN1C):c.577C>G (p.Pro193Ala)	CDKN1C (P204A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1080492	NM_001122630.2(CDKN1C):c.573G>A (p.Pro191=)	CDKN1C	Single nucleotide variant (synonymous variant +1 more)	Beckwith-Wiedemann syndrome +2 more	GLikely 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 705610	NM_001122630.2(CDKN1C):c.546_569del (p.Val184_Pro191del)	CDKN1C	Deletion (inframe_deletion +1 more)	CDKN1C-related condition +1 more	GConflicting classifications of pathogenicity
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 454018	NM_001122630.2(CDKN1C):c.555GGCCCC[1] (p.186AP[9])	CDKN1C	Deletion (inframe_deletion +1 more)	CDKN1C-related condition +1 more	GConflicting classifications of pathogenicity
Select item 1656953	NM_001122630.2(CDKN1C):c.561G>A (p.Pro187=)	CDKN1C	Single nucleotide variant (synonymous variant +1 more)	CDKN1C-related condition +1 more	GLikely benign
Select item 454015	NM_001122630.2(CDKN1C):c.540_545dup (p.168_169AP[9])	CDKN1C	Duplication (inframe_insertion +1 more)	Beckwith-Wiedemann syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1137285	NM_001122630.2(CDKN1C):c.540C>A (p.Ala180=)	CDKN1C	Single nucleotide variant (synonymous variant +1 more)	Beckwith-Wiedemann syndrome +1 more	GLikely benign
Select item 236958	NM_001122630.2(CDKN1C):c.522TCCGGC[2] (p.168AP[7])	CDKN1C	Microsatellite (inframe_deletion +1 more)	CDKN1C-related condition +3 more	GConflicting classifications of pathogenicity
Select item 254881	NM_001122630.2(CDKN1C):c.534T>C (p.Ala178=)	CDKN1C	Single nucleotide variant (synonymous variant +1 more)	Beckwith-Wiedemann syndrome +2 more	GLikely benign
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 412854	NM_001122630.2(CDKN1C):c.504_521del (p.168_169AP[5])	CDKN1C	Deletion (inframe_deletion +1 more)	Beckwith-Wiedemann syndrome +1 more	GLikely benign
Select item 1108343	NM_001122630.2(CDKN1C):c.516C>T (p.Ala172=)	CDKN1C	Single nucleotide variant (synonymous variant +1 more)	Beckwith-Wiedemann syndrome +1 more	GLikely benign
Select item 193041	NM_001122630.2(CDKN1C):c.495G>C (p.Ala165=)	CDKN1C	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 454008	NM_001122630.2(CDKN1C):c.455CTCCGGTCGCGG[4] (p.152APVA[4])	CDKN1C	Microsatellite (inframe_insertion +1 more)	Beckwith-Wiedemann syndrome +3 more	GLikely benign
Select item 454007	NM_001122630.2(CDKN1C):c.455CTCCGGTCGCGG[5] (p.152APVA[5])	CDKN1C	Microsatellite (inframe_insertion +1 more)	CDKN1C-related condition +1 more	GConflicting classifications of pathogenicity
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 236952	NM_001122630.2(CDKN1C):c.423G>A (p.Pro141=)	CDKN1C	Single nucleotide variant (synonymous variant +1 more)	CDKN1C-related condition +2 more	GConflicting classifications of pathogenicity
Select item 453999	NM_001122630.2(CDKN1C):c.362C>T (p.Ala121Val)	CDKN1C (A132V +1 more)	Single nucleotide variant (missense variant +1 more)	CDKN1C-related condition +1 more	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 524697	NM_001122630.2(CDKN1C):c.319C>G (p.Pro107Ala)	CDKN1C (P118A +1 more)	Single nucleotide variant (missense variant +1 more)	IMAGe syndrome +3 more	GConflicting classifications of pathogenicity
Select item 412852	NM_001122630.2(CDKN1C):c.213G>A (p.Val71=)	CDKN1C	Single nucleotide variant (synonymous variant)	CDKN1C-related condition +2 more	GLikely benign
Select item 412864	NM_001122630.2(CDKN1C):c.138C>T (p.Asp46=)	CDKN1C	Single nucleotide variant (synonymous variant)	Beckwith-Wiedemann syndrome +1 more	GLikely benign
Select item 1120617	NM_001122630.2(CDKN1C):c.105G>T (p.Leu35=)	CDKN1C	Single nucleotide variant (synonymous variant)	Beckwith-Wiedemann syndrome +1 more	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 524736	NM_001122630.2(CDKN1C):c.45C>T (p.Arg15=)	CDKN1C	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 646679	NM_001122630.2(CDKN1C):c.43C>G (p.Arg15Gly)	CDKN1C (R26G +1 more)	Single nucleotide variant (missense variant)	Beckwith-Wiedemann syndrome +2 more	GUncertain significance
Select item 3032888	NM_001122630.2(CDKN1C):c.-10-24del	CDKN1C	Deletion (5 prime UTR variant +1 more)	CDKN1C-related condition	GLikely benign
Select item 3031840	NM_001122630.2(CDKN1C):c.-10-26G>T	CDKN1C	Single nucleotide variant (5 prime UTR variant +1 more)	CDKN1C-related condition	GLikely benign
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

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Items: 53