ClinVar for MedGen (Select 337364) - ClinVar

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Items: 68

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2582596	NM_001122630.2(CDKN1C):c.*5+1G>A	CDKN1C	Single nucleotide variant (splice donor variant)	IMAGe syndrome +1 more	GUncertain significance
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 1508329	NM_001122630.2(CDKN1C):c.-8C>T	CDKN1C (T9I)	Single nucleotide variant (missense variant +1 more)	IMAGe syndrome +1 more	GUncertain significance
Select item 1413786	NM_001122630.2(CDKN1C):c.174G>A (p.Met58Ile)	CDKN1C (M58I +1 more)	Single nucleotide variant (missense variant)	IMAGe syndrome +1 more	GUncertain significance
Select item 1380842	NM_001122630.2(CDKN1C):c.204G>C (p.Trp68Cys)	CDKN1C (W68C +1 more)	Single nucleotide variant (missense variant)	Beckwith-Wiedemann syndrome +1 more	GUncertain significance
Select item 1367993	NM_001122630.2(CDKN1C):c.715C>T (p.Pro239Ser)	CDKN1C (P250S +1 more)	Single nucleotide variant (missense variant +1 more)	Beckwith-Wiedemann syndrome +1 more	GUncertain significance
Select item 1150697	NM_001122630.2(CDKN1C):c.51C>T (p.Ser17=)	CDKN1C	Single nucleotide variant (synonymous variant)	Beckwith-Wiedemann syndrome +1 more	GLikely benign
Select item 1004502	NM_001122630.2(CDKN1C):c.329C>G (p.Pro110Arg)	CDKN1C (P110R +1 more)	Single nucleotide variant (missense variant +1 more)	Beckwith-Wiedemann syndrome +1 more	GUncertain significance
Select item 989317	NM_001122630.2(CDKN1C):c.787+2T>A	CDKN1C	Single nucleotide variant (intron variant +1 more)	IMAGe syndrome	GLikely pathogenic
Select item 986832	NM_001122630.2(CDKN1C):c.802C>A (p.Arg268Ser)	CDKN1C (R268S +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 981177	NM_001122630.2(CDKN1C):c.789_793delinsGAGCTG (p.Asp263fs)	CDKN1C (D263fs +2 more)	Indel (frameshift variant)	Beckwith-Wiedemann syndrome +1 more	GPathogenic
Select item 958858	NM_001122630.2(CDKN1C):c.625C>A (p.Pro209Thr)	CDKN1C (P220T +1 more)	Single nucleotide variant (missense variant +1 more)	Beckwith-Wiedemann syndrome +1 more	GUncertain significance
Select item 934663	NM_001122630.2(CDKN1C):c.885G>A (p.Ser295=)	CDKN1C (R118Q)	Single nucleotide variant (synonymous variant +1 more)	Beckwith-Wiedemann syndrome +1 more	GConflicting classifications of pathogenicity
Select item 855774	NM_001122630.2(CDKN1C):c.457C>G (p.Pro153Ala)	CDKN1C (P153A +1 more)	Single nucleotide variant (missense variant +1 more)	IMAGe syndrome +1 more	GUncertain significance
Select item 848902	NM_001122630.2(CDKN1C):c.425_442dup (p.Val142_Pro147dup)	CDKN1C	Duplication (inframe_insertion +1 more)	Beckwith-Wiedemann syndrome +2 more	GUncertain significance
Select item 844933	NM_001122630.2(CDKN1C):c.97C>T (p.Arg33Cys)	CDKN1C (R44C +1 more)	Single nucleotide variant (missense variant)	Beckwith-Wiedemann syndrome +2 more	GUncertain significance
Select item 701304	NM_001122630.2(CDKN1C):c.105G>A (p.Leu35=)	CDKN1C	Single nucleotide variant (synonymous variant)	Beckwith-Wiedemann syndrome +1 more	GLikely benign
Select item 660780	NM_001122630.2(CDKN1C):c.453G>A (p.Pro151=)	CDKN1C	Single nucleotide variant (synonymous variant +1 more)	Beckwith-Wiedemann syndrome +1 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 643966	NM_001122630.2(CDKN1C):c.395C>T (p.Ala132Val)	CDKN1C (A143V +1 more)	Single nucleotide variant (missense variant +1 more)	Beckwith-Wiedemann syndrome +1 more	GUncertain significance
Select item 641737	NM_001122630.2(CDKN1C):c.742G>T (p.Ala248Ser)	CDKN1C (A248S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GUncertain significance
Select item 581339	NM_001122630.2(CDKN1C):c.751G>A (p.Ala251Thr)	CDKN1C (A262T +1 more)	Single nucleotide variant (missense variant +1 more)	IMAGe syndrome +1 more	GUncertain significance
Select item 580672	NM_001122630.2(CDKN1C):c.17C>T (p.Ala6Val)	CDKN1C (A17V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 580302	NM_001122630.2(CDKN1C):c.-3A>G	CDKN1C (T11A)	Single nucleotide variant (missense variant +1 more)	Beckwith-Wiedemann syndrome	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)	Beckwith-Wiedemann syndrome +1 more	GUncertain significance
Select item 576366	NM_001122630.2(CDKN1C):c.709G>A (p.Gly237Arg)	CDKN1C (G248R +1 more)	Single nucleotide variant (missense variant +1 more)	Beckwith-Wiedemann syndrome +1 more	GUncertain significance
Select item 575298	NM_001122630.2(CDKN1C):c.719C>T (p.Ala240Val)	CDKN1C (A251V +1 more)	Single nucleotide variant (missense variant +1 more)	Beckwith-Wiedemann syndrome +2 more	GUncertain significance
Select item 572690	NM_001122630.2(CDKN1C):c.465G>A (p.Ala155=)	CDKN1C	Single nucleotide variant (synonymous variant +1 more)	Beckwith-Wiedemann syndrome +1 more	GConflicting classifications of pathogenicity
Select item 572297	NM_001122630.2(CDKN1C):c.542C>G (p.Pro181Arg)	CDKN1C (P192R +1 more)	Single nucleotide variant (missense variant +1 more)	Beckwith-Wiedemann syndrome +2 more	GUncertain significance
Select item 524753	NM_001122630.2(CDKN1C):c.225G>C (p.Ser75=)	CDKN1C	Single nucleotide variant (synonymous variant)	Beckwith-Wiedemann syndrome +1 more	GLikely benign
Select item 524743	NM_001122630.2(CDKN1C):c.564C>T (p.Ala188=)	CDKN1C	Single nucleotide variant (synonymous variant +1 more)	Beckwith-Wiedemann syndrome +1 more	GLikely benign
Select item 524727	NM_001122630.2(CDKN1C):c.354C>T (p.Leu118=)	CDKN1C	Single nucleotide variant (synonymous variant +1 more)	Beckwith-Wiedemann syndrome +1 more	GLikely benign
Select item 524723	NM_001122630.2(CDKN1C):c.587_616dup (p.186_187AP[15])	CDKN1C	Indel (inframe_insertion +1 more)	Beckwith-Wiedemann syndrome +1 more	GLikely benign
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 524700	NM_001122630.2(CDKN1C):c.592G>A (p.Ala198Thr)	CDKN1C (A209T +1 more)	Single nucleotide variant (missense variant +1 more)	IMAGe 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)	IMAGe syndrome +3 more	GConflicting classifications of pathogenicity
Select item 524686	NM_001122630.2(CDKN1C):c.553G>C (p.Ala185Pro)	CDKN1C (A196P +1 more)	Single nucleotide variant (missense variant +1 more)	Beckwith-Wiedemann syndrome +1 more	GConflicting classifications of pathogenicity
Select item 454038	NM_001122630.2(CDKN1C):c.828G>C (p.Ser276=)	CDKN1C (R99P)	Single nucleotide variant (synonymous variant +1 more)	IMAGe syndrome +1 more	GLikely benign
Select item 454037	NM_001122630.2(CDKN1C):c.815C>T (p.Ala272Val)	CDKN1C (A283V +2 more)	Single nucleotide variant (missense variant)	Beckwith-Wiedemann syndrome +1 more	GUncertain significance
Select item 454033	NM_001122630.2(CDKN1C):c.775C>A (p.Pro259Thr)	CDKN1C (P270T +1 more)	Single nucleotide variant (missense variant +1 more)	IMAGe syndrome +1 more	GUncertain significance
Select item 454031	NM_001122630.2(CDKN1C):c.736G>T (p.Ala246Ser)	CDKN1C (A257S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 454019	NM_001122630.2(CDKN1C):c.567_596dup (p.186_187AP[15])	CDKN1C	Indel (inframe_insertion +1 more)	IMAGe syndrome +1 more	GLikely benign
Select item 454017	NM_001122630.2(CDKN1C):c.551T>C (p.Val184Ala)	CDKN1C (V195A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 453995	NM_001122630.2(CDKN1C):c.317C>G (p.Pro106Arg)	CDKN1C (P117R +1 more)	Single nucleotide variant (missense variant +1 more)	Beckwith-Wiedemann syndrome +1 more	GUncertain significance
Select item 453994	NM_001122630.2(CDKN1C):c.316C>T (p.Pro106Ser)	CDKN1C (P117S +1 more)	Single nucleotide variant (missense variant +1 more)	IMAGe syndrome +1 more	GUncertain significance
Select item 453990	NM_001122630.2(CDKN1C):c.98G>T (p.Arg33Leu)	CDKN1C (R44L +1 more)	Single nucleotide variant (missense variant)	IMAGe syndrome +1 more	GUncertain significance
Select item 412853	NM_001122630.2(CDKN1C):c.291C>T (p.Pro97=)	CDKN1C	Single nucleotide variant (intron variant +1 more)	Beckwith-Wiedemann syndrome +1 more	GBenign/Likely benign
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 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 404254	NM_001122630.2(CDKN1C):c.320C>T (p.Pro107Leu)	CDKN1C (P118L +1 more)	Single nucleotide variant (missense variant +1 more)	CDKN1C-related condition +4 more	GBenign/Likely 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 404245	NM_001122630.2(CDKN1C):c.611C>A (p.Ala204Asp)	CDKN1C (A215D +1 more)	Single nucleotide variant (missense variant +1 more)	Beckwith-Wiedemann syndrome +1 more	GUncertain significance
Select item 254879	NM_001122630.2(CDKN1C):c.*5+18dup	CDKN1C	Duplication (intron variant)	CDKN1C-related condition +3 more	GBenign
Select item 254171	NM_001122630.2(CDKN1C):c.809G>T (p.Arg270Ile)	CDKN1C (R281I +2 more)	Single nucleotide variant (missense variant)	IMAGe syndrome	Gnot provided
Select item 236975	NM_001122630.2(CDKN1C):c.737C>G (p.Ala246Gly)	CDKN1C (A257G +1 more)	Single nucleotide variant (missense variant +1 more)	Beckwith-Wiedemann syndrome +1 more	GUncertain significance
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 236967	NM_001122630.2(CDKN1C):c.573GGCCCC[3] (p.186AP[9])	CDKN1C	Indel (inframe_deletion +1 more)	not specified +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)	not specified +3 more	GBenign
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 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 236947	NM_001122630.2(CDKN1C):c.-132G>A	CDKN1C	Single nucleotide variant (5 prime UTR variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 192361	NM_001122630.2(CDKN1C):c.803G>T (p.Arg268Leu)	CDKN1C (R279L +2 more)	Single nucleotide variant (missense variant)	Beckwith-Wiedemann syndrome	GPathogenic
Select item 132130	NM_001122630.2(CDKN1C):c.782T>G (p.Ile261Ser)	CDKN1C (I272S +1 more)	Single nucleotide variant (missense variant +1 more)	IMAGe syndrome	Gnot provided
Select item 35532	NM_001122630.2(CDKN1C):c.799A>G (p.Lys267Glu)	CDKN1C (K278E +1 more)	Single nucleotide variant (missense variant +1 more)	IMAGe syndrome	GPathogenic
Select item 35531	NM_001122630.2(CDKN1C):c.787G>A (p.Asp263Asn)	CDKN1C (D274N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GPathogenic
Select item 35530	NM_001122630.2(CDKN1C):c.803G>C (p.Arg268Pro)	CDKN1C (R279P +2 more)	Single nucleotide variant (missense variant)	IMAGe syndrome	GPathogenic
Select item 35529	NM_001122630.2(CDKN1C):c.794T>C (p.Phe265Ser)	CDKN1C (F276S +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 35528	NM_001122630.2(CDKN1C):c.793T>G (p.Phe265Val)	CDKN1C (F276V +1 more)	Single nucleotide variant (missense variant +1 more)	IMAGe syndrome	GPathogenic

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Items: 68