ClinVar for MedGen (Select 2562) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3244518	NC_000011.9:g.(?_216698)_(2906719_?)dup	ANO9, AP2A2 +77 more	Duplication	Beckwith-Wiedemann syndrome	GUncertain significance
Select item 3241068	NM_001122630.2(CDKN1C):c.449_460del (p.144AP[3])	CDKN1C	Deletion (inframe_deletion +1 more)	Beckwith-Wiedemann syndrome	GUncertain significance
Select item 3241067	NM_001122630.2(CDKN1C):c.284C>G (p.Pro95Arg)	CDKN1C (P106R +1 more)	Single nucleotide variant (missense variant +1 more)	Beckwith-Wiedemann syndrome	GUncertain significance
Select item 3241066	NM_001122630.2(CDKN1C):c.346G>A (p.Asp116Asn)	CDKN1C (D116N +1 more)	Single nucleotide variant (missense variant +1 more)	Beckwith-Wiedemann syndrome	GUncertain significance
Select item 3241065	NM_001122630.2(CDKN1C):c.272T>A (p.Leu91Gln)	CDKN1C (L102Q +1 more)	Single nucleotide variant (missense variant +1 more)	Beckwith-Wiedemann syndrome	GUncertain significance
Select item 3065800	NM_000876.4(IGF2R):c.6359A>C (p.Asp2120Ala)	IGF2R (D2120A)	Single nucleotide variant (missense variant)	Beckwith-Wiedemann syndrome	GUncertain significance
Select item 3062304	NM_001122630.2(CDKN1C):c.19del (p.Arg7fs)	CDKN1C (R18fs +1 more)	Deletion (frameshift variant)	Beckwith-Wiedemann syndrome	GLikely pathogenic
Select item 3062133	NM_001122630.2(CDKN1C):c.289_292del (p.Pro97fs)	CDKN1C (P108fs +1 more)	Deletion (frameshift variant +1 more)	Beckwith-Wiedemann syndrome	GLikely pathogenic
Select item 3023476	NM_001122630.2(CDKN1C):c.614C>G (p.Pro205Arg)	CDKN1C (P205R +1 more)	Single nucleotide variant (missense variant +1 more)	Beckwith-Wiedemann syndrome	GUncertain significance
Select item 3014771	NM_001122630.2(CDKN1C):c.624G>A (p.Ala208=)	CDKN1C	Single nucleotide variant (synonymous variant +1 more)	Beckwith-Wiedemann syndrome	GLikely benign
Select item 3014097	NM_001122630.2(CDKN1C):c.429G>A (p.Leu143=)	CDKN1C	Single nucleotide variant (synonymous variant +1 more)	Beckwith-Wiedemann syndrome	GLikely benign
Select item 3012754	NM_001122630.2(CDKN1C):c.218G>C (p.Ser73Thr)	CDKN1C (S73T +1 more)	Single nucleotide variant (missense variant)	Beckwith-Wiedemann syndrome	GUncertain significance
Select item 3010820	NM_001122630.2(CDKN1C):c.522delinsCCCGGCC (p.Pro183_Val184insAlaPro)	CDKN1C	Indel (inframe_insertion +1 more)	Beckwith-Wiedemann syndrome	GLikely benign
Select item 3010815	NM_001122630.2(CDKN1C):c.563_578delinsTCGCAGTCGCGGTCCT (p.Ala188_Pro193delinsValAlaValAlaValLeu)	CDKN1C	Indel (missense variant +1 more)	Beckwith-Wiedemann syndrome	GLikely benign
Select item 3010813	NM_001122630.2(CDKN1C):c.493_500delinsCTGGCCCC (p.Ala165_Leu167delinsLeuAlaPro)	CDKN1C	Indel (missense variant +1 more)	Beckwith-Wiedemann syndrome	GLikely benign
Select item 3009890	NM_001122630.2(CDKN1C):c.788-14G>T	CDKN1C	Single nucleotide variant (intron variant)	Beckwith-Wiedemann syndrome	GLikely benign
Select item 3009507	NM_001122630.2(CDKN1C):c.549_554del (p.Val184_Ala185del)	CDKN1C	Deletion (inframe_deletion +1 more)	Beckwith-Wiedemann syndrome	GLikely benign
Select item 3005776	NM_001122630.2(CDKN1C):c.454_455insTCGCGG (p.Pro151_Ala152insValAla)	CDKN1C	Insertion (inframe_insertion +1 more)	Beckwith-Wiedemann syndrome	GUncertain significance
Select item 3004315	NM_001122630.2(CDKN1C):c.41T>G (p.Val14Gly)	CDKN1C (V25G +1 more)	Single nucleotide variant (missense variant)	Beckwith-Wiedemann syndrome	GUncertain significance
Select item 3002507	NM_001122630.2(CDKN1C):c.614C>A (p.Pro205Gln)	CDKN1C (P205Q +1 more)	Single nucleotide variant (missense variant +1 more)	Beckwith-Wiedemann syndrome	GUncertain significance
Select item 3001278	NM_001122630.2(CDKN1C):c.54C>G (p.Ala18=)	CDKN1C	Single nucleotide variant (synonymous variant)	Beckwith-Wiedemann syndrome	GLikely benign
Select item 2993050	NM_001122630.2(CDKN1C):c.292G>C (p.Val98Leu)	CDKN1C (V98L +1 more)	Single nucleotide variant (missense variant +1 more)	Beckwith-Wiedemann syndrome	GUncertain significance
Select item 2968828	NM_001122630.2(CDKN1C):c.302C>T (p.Ala101Val)	CDKN1C (A101V +1 more)	Single nucleotide variant (missense variant +1 more)	Beckwith-Wiedemann syndrome	GUncertain significance
Select item 2959455	NM_001122630.2(CDKN1C):c.474C>A (p.Val158=)	CDKN1C	Single nucleotide variant (synonymous variant +1 more)	Beckwith-Wiedemann syndrome	GLikely benign
Select item 2958073	NM_001122630.2(CDKN1C):c.576C>A (p.Ala192=)	CDKN1C	Single nucleotide variant (synonymous variant +1 more)	Beckwith-Wiedemann syndrome	GLikely benign
Select item 2918193	NM_001122630.2(CDKN1C):c.321C>T (p.Pro107=)	CDKN1C	Single nucleotide variant (synonymous variant +1 more)	Beckwith-Wiedemann syndrome	GLikely benign
Select item 2917955	NM_001122630.2(CDKN1C):c.489G>C (p.Ala163=)	CDKN1C	Single nucleotide variant (synonymous variant +1 more)	Beckwith-Wiedemann syndrome	GLikely benign
Select item 2917937	NM_001122630.2(CDKN1C):c.91C>G (p.Leu31Val)	CDKN1C (L42V +1 more)	Single nucleotide variant (missense variant)	Beckwith-Wiedemann syndrome	GUncertain significance
Select item 2917701	NM_001122630.2(CDKN1C):c.505C>T (p.Pro169Ser)	CDKN1C (P180S +1 more)	Single nucleotide variant (missense variant +1 more)	Beckwith-Wiedemann syndrome	GUncertain significance
Select item 2916584	NM_001122630.2(CDKN1C):c.414C>A (p.Pro138=)	CDKN1C	Single nucleotide variant (synonymous variant +1 more)	Beckwith-Wiedemann syndrome	GLikely benign
Select item 2915127	NM_001122630.2(CDKN1C):c.605C>G (p.Ala202Gly)	CDKN1C (A202G +1 more)	Single nucleotide variant (missense variant +1 more)	Beckwith-Wiedemann syndrome	GUncertain significance
Select item 2913485	NM_001122630.2(CDKN1C):c.591G>A (p.Pro197=)	CDKN1C	Single nucleotide variant (synonymous variant +1 more)	Beckwith-Wiedemann syndrome	GLikely benign
Select item 2913143	NM_001122630.2(CDKN1C):c.449C>T (p.Ala150Val)	CDKN1C (A161V +1 more)	Single nucleotide variant (missense variant +1 more)	Beckwith-Wiedemann syndrome	GUncertain significance
Select item 2911518	NM_001122630.2(CDKN1C):c.401C>A (p.Ala134Glu)	CDKN1C (A134E +1 more)	Single nucleotide variant (missense variant +1 more)	Beckwith-Wiedemann syndrome	GUncertain significance
Select item 2910802	NM_001122630.2(CDKN1C):c.607C>T (p.Pro203Ser)	CDKN1C (P214S +1 more)	Single nucleotide variant (missense variant +1 more)	Beckwith-Wiedemann syndrome	GUncertain significance
Select item 2909371	NM_001122630.2(CDKN1C):c.604G>T (p.Ala202Ser)	CDKN1C (A202S +1 more)	Single nucleotide variant (missense variant +1 more)	Beckwith-Wiedemann syndrome	GUncertain significance
Select item 2908741	NM_001122630.2(CDKN1C):c.716C>T (p.Pro239Leu)	CDKN1C (P250L +1 more)	Single nucleotide variant (missense variant +1 more)	Beckwith-Wiedemann syndrome	GUncertain significance
Select item 2908559	NM_001122630.2(CDKN1C):c.446C>G (p.Pro149Arg)	CDKN1C (P160R +1 more)	Single nucleotide variant (missense variant +1 more)	Beckwith-Wiedemann syndrome	GUncertain significance
Select item 2907987	NM_001122630.2(CDKN1C):c.617A>G (p.Asp206Gly)	CDKN1C (D206G +1 more)	Single nucleotide variant (missense variant +1 more)	Beckwith-Wiedemann syndrome	GUncertain significance
Select item 2907205	NM_001122630.2(CDKN1C):c.809G>C (p.Arg270Thr)	CDKN1C (R281T +2 more)	Single nucleotide variant (missense variant)	Beckwith-Wiedemann syndrome	GUncertain significance
Select item 2905145	NM_001122630.2(CDKN1C):c.126G>T (p.Leu42=)	CDKN1C	Single nucleotide variant (synonymous variant)	Beckwith-Wiedemann syndrome	GLikely benign
Select item 2886734	NM_001122630.2(CDKN1C):c.75G>A (p.Pro25=)	CDKN1C	Single nucleotide variant (synonymous variant)	Beckwith-Wiedemann syndrome	GLikely benign
Select item 2885935	NM_001122630.2(CDKN1C):c.658G>C (p.Gly220Arg)	CDKN1C (G220R +1 more)	Single nucleotide variant (missense variant +1 more)	Beckwith-Wiedemann syndrome	GUncertain significance
Select item 2885873	NM_001122630.2(CDKN1C):c.510_545dup (p.Pro183_Val184insAlaProAlaProAlaProAlaProAlaProAlaPro)	CDKN1C	Duplication (inframe_insertion +1 more)	Beckwith-Wiedemann syndrome	GUncertain significance
Select item 2884632	NM_001122630.2(CDKN1C):c.224C>T (p.Ser75Leu)	CDKN1C (S75L +1 more)	Single nucleotide variant (missense variant)	Beckwith-Wiedemann syndrome	GUncertain significance
Select item 2882911	NM_001122630.2(CDKN1C):c.*5+20G>C	CDKN1C	Single nucleotide variant (intron variant)	Beckwith-Wiedemann syndrome	GUncertain significance
Select item 2882154	NM_001122630.2(CDKN1C):c.386C>T (p.Pro129Leu)	CDKN1C (P129L +1 more)	Single nucleotide variant (missense variant +1 more)	Beckwith-Wiedemann syndrome	GUncertain significance
Select item 2878088	NM_001122630.2(CDKN1C):c.598G>T (p.Ala200Ser)	CDKN1C (A200S +1 more)	Single nucleotide variant (missense variant +1 more)	Beckwith-Wiedemann syndrome	GUncertain significance
Select item 2877390	NM_001122630.2(CDKN1C):c.348C>T (p.Asp116=)	CDKN1C	Single nucleotide variant (synonymous variant +1 more)	Beckwith-Wiedemann syndrome	GLikely benign
Select item 2875743	NM_001122630.2(CDKN1C):c.894G>C (p.Gln298His)	CDKN1C (Q298H +2 more)	Single nucleotide variant (missense variant)	Beckwith-Wiedemann syndrome	GUncertain significance
Select item 2874981	NM_001122630.2(CDKN1C):c.73C>T (p.Pro25Ser)	CDKN1C (P36S +1 more)	Single nucleotide variant (missense variant)	Beckwith-Wiedemann syndrome	GUncertain significance
Select item 2874601	NM_001122630.2(CDKN1C):c.146G>T (p.Arg49Leu)	CDKN1C (R49L +1 more)	Single nucleotide variant (missense variant)	Beckwith-Wiedemann syndrome	GUncertain significance
Select item 2872873	NM_001122630.2(CDKN1C):c.522delinsCCCGGCTCCGGCTCCGGCC (p.Pro183_Val184insAlaProAlaProAlaPro)	CDKN1C	Indel (inframe_insertion +1 more)	Beckwith-Wiedemann syndrome	GLikely benign
Select item 2870201	NM_001122630.2(CDKN1C):c.415C>A (p.Pro139Thr)	CDKN1C (P150T +1 more)	Single nucleotide variant (missense variant +1 more)	Beckwith-Wiedemann syndrome	GUncertain significance
Select item 2865537	NM_001122630.2(CDKN1C):c.299T>C (p.Val100Ala)	CDKN1C (V111A +1 more)	Single nucleotide variant (missense variant +1 more)	Beckwith-Wiedemann syndrome	GUncertain significance
Select item 2864316	NM_001122630.2(CDKN1C):c.497_502dup (p.Leu167_Ala168insValLeu)	CDKN1C	Duplication (inframe_insertion +1 more)	Beckwith-Wiedemann syndrome	GUncertain significance
Select item 2861997	NM_001122630.2(CDKN1C):c.277C>T (p.Leu93=)	CDKN1C	Single nucleotide variant (synonymous variant +1 more)	Beckwith-Wiedemann syndrome	GLikely benign
Select item 2860464	NM_001122630.2(CDKN1C):c.636C>A (p.Ser212Arg)	CDKN1C (S212R +1 more)	Single nucleotide variant (missense variant +1 more)	Beckwith-Wiedemann syndrome	GUncertain significance
Select item 2858716	NM_001122630.2(CDKN1C):c.745A>C (p.Asn249His)	CDKN1C (N249H +1 more)	Single nucleotide variant (missense variant +1 more)	Beckwith-Wiedemann syndrome	GUncertain significance
Select item 2858148	NM_001122630.2(CDKN1C):c.820G>T (p.Glu274Ter)	CDKN1C (E274* +1 more)	Single nucleotide variant (nonsense +1 more)	Beckwith-Wiedemann syndrome	GPathogenic
Select item 2857337	NM_001122630.2(CDKN1C):c.161_164del (p.Phe54fs)	CDKN1C (F65fs +1 more)	Deletion (frameshift variant)	Beckwith-Wiedemann syndrome	GPathogenic
Select item 2857042	NM_001122630.2(CDKN1C):c.691C>T (p.Leu231=)	CDKN1C	Single nucleotide variant (synonymous variant +1 more)	Beckwith-Wiedemann syndrome	GLikely benign
Select item 2853492	NM_001122630.2(CDKN1C):c.869C>T (p.Ala290Val)	CDKN1C (P113S +2 more)	Single nucleotide variant (missense variant)	Beckwith-Wiedemann syndrome	GUncertain significance
Select item 2850914	NM_001122630.2(CDKN1C):c.695A>C (p.His232Pro)	CDKN1C (H243P +1 more)	Single nucleotide variant (missense variant +1 more)	Beckwith-Wiedemann syndrome	GUncertain significance
Select item 2849628	NM_001122630.2(CDKN1C):c.854C>G (p.Pro285Arg)	CDKN1C (P108A +2 more)	Single nucleotide variant (missense variant)	Beckwith-Wiedemann syndrome	GUncertain significance
Select item 2849378	NM_001122630.2(CDKN1C):c.519G>A (p.Pro173=)	CDKN1C	Single nucleotide variant (synonymous variant +1 more)	Beckwith-Wiedemann syndrome	GLikely benign
Select item 2846775	NM_001122630.2(CDKN1C):c.110C>A (p.Ala37Asp)	CDKN1C (A37D +1 more)	Single nucleotide variant (missense variant)	Beckwith-Wiedemann syndrome	GUncertain significance
Select item 2844872	NM_001122630.2(CDKN1C):c.639_787+239del	CDKN1C	Deletion (intron variant +1 more)	Beckwith-Wiedemann syndrome	GUncertain significance
Select item 2841238	NM_001122630.2(CDKN1C):c.662del (p.Gln221fs)	CDKN1C (Q232fs +1 more)	Deletion (frameshift variant +1 more)	Beckwith-Wiedemann syndrome	GPathogenic
Select item 2840653	NM_001122630.2(CDKN1C):c.836A>G (p.Asp279Gly)	CDKN1C (D290G +2 more)	Single nucleotide variant (missense variant)	Beckwith-Wiedemann syndrome	GUncertain significance
Select item 2839095	NM_001122630.2(CDKN1C):c.154T>G (p.Tyr52Asp)	CDKN1C (Y52D +1 more)	Single nucleotide variant (missense variant)	Beckwith-Wiedemann syndrome	GUncertain significance
Select item 2839094	NM_001122630.2(CDKN1C):c.443C>G (p.Ala148Gly)	CDKN1C (A159G +1 more)	Single nucleotide variant (missense variant +1 more)	Beckwith-Wiedemann syndrome	GUncertain significance
Select item 2839092	NM_001122630.2(CDKN1C):c.514G>A (p.Ala172Thr)	CDKN1C (A183T +1 more)	Single nucleotide variant (missense variant +1 more)	Beckwith-Wiedemann syndrome	GUncertain significance
Select item 2838673	NM_001122630.2(CDKN1C):c.754G>A (p.Ala252Thr)	CDKN1C (A263T +1 more)	Single nucleotide variant (missense variant +1 more)	Beckwith-Wiedemann syndrome	GUncertain significance
Select item 2838579	NM_001122630.2(CDKN1C):c.306G>T (p.Val102=)	CDKN1C	Single nucleotide variant (synonymous variant +1 more)	Beckwith-Wiedemann syndrome	GLikely benign
Select item 2836866	NM_001122630.2(CDKN1C):c.730del (p.Ala244fs)	CDKN1C (A244fs +1 more)	Deletion (frameshift variant +1 more)	Beckwith-Wiedemann syndrome	GPathogenic
Select item 2834261	NM_001122630.2(CDKN1C):c.170A>C (p.Asp57Ala)	CDKN1C (D68A +1 more)	Single nucleotide variant (missense variant)	Beckwith-Wiedemann syndrome	GUncertain significance
Select item 2832949	NM_001122630.2(CDKN1C):c.685G>A (p.Asp229Asn)	CDKN1C (D229N +1 more)	Single nucleotide variant (missense variant +1 more)	Beckwith-Wiedemann syndrome	GUncertain significance
Select item 2831809	NM_001122630.2(CDKN1C):c.578C>A (p.Pro193Gln)	CDKN1C (P193Q +1 more)	Single nucleotide variant (missense variant +1 more)	Beckwith-Wiedemann syndrome	GUncertain significance
Select item 2830764	NM_001122630.2(CDKN1C):c.725_742del (p.Gly242_Ser247del)	CDKN1C	Deletion (inframe_deletion +1 more)	Beckwith-Wiedemann syndrome	GUncertain significance
Select item 2828308	NM_001122630.2(CDKN1C):c.466G>C (p.Ala156Pro)	CDKN1C (A156P +1 more)	Single nucleotide variant (missense variant +1 more)	Beckwith-Wiedemann syndrome	GUncertain significance
Select item 2823699	NM_001122630.2(CDKN1C):c.671A>G (p.Gln224Arg)	CDKN1C (Q224R +1 more)	Single nucleotide variant (missense variant +1 more)	Beckwith-Wiedemann syndrome	GUncertain significance
Select item 2821237	NM_001122630.2(CDKN1C):c.96C>T (p.Ser32=)	CDKN1C	Single nucleotide variant (synonymous variant)	Beckwith-Wiedemann syndrome	GLikely benign
Select item 2821236	NM_001122630.2(CDKN1C):c.172A>G (p.Met58Val)	CDKN1C (M69V +1 more)	Single nucleotide variant (missense variant)	Beckwith-Wiedemann syndrome	GUncertain significance
Select item 2821185	NM_001122630.2(CDKN1C):c.759C>T (p.Ile253=)	CDKN1C	Single nucleotide variant (synonymous variant +1 more)	Beckwith-Wiedemann syndrome	GLikely benign
Select item 2820915	NM_001122630.2(CDKN1C):c.334G>A (p.Ala112Thr)	CDKN1C (A123T +1 more)	Single nucleotide variant (missense variant +1 more)	Beckwith-Wiedemann syndrome	GUncertain significance
Select item 2817127	NM_001122630.2(CDKN1C):c.594C>A (p.Ala198=)	CDKN1C	Single nucleotide variant (synonymous variant +1 more)	Beckwith-Wiedemann syndrome	GLikely benign
Select item 2814967	NM_001122630.2(CDKN1C):c.607C>G (p.Pro203Ala)	CDKN1C (P214A +1 more)	Single nucleotide variant (missense variant +1 more)	Beckwith-Wiedemann syndrome	GUncertain significance
Select item 2814190	NM_001122630.2(CDKN1C):c.604G>A (p.Ala202Thr)	CDKN1C (A213T +1 more)	Single nucleotide variant (missense variant +1 more)	Beckwith-Wiedemann syndrome	GUncertain significance
Select item 2813230	NM_001122630.2(CDKN1C):c.775C>G (p.Pro259Ala)	CDKN1C (P259A +1 more)	Single nucleotide variant (missense variant +1 more)	Beckwith-Wiedemann syndrome	GUncertain significance
Select item 2811862	NM_001122630.2(CDKN1C):c.848C>T (p.Pro283Leu)	CDKN1C (P283L +2 more)	Single nucleotide variant (missense variant)	Beckwith-Wiedemann syndrome	GUncertain significance
Select item 2811200	NM_001122630.2(CDKN1C):c.567_602del (p.186AP[4])	CDKN1C	Deletion (inframe_deletion +1 more)	Beckwith-Wiedemann syndrome	GLikely benign
Select item 2800742	NM_001122630.2(CDKN1C):c.582C>A (p.Ala194=)	CDKN1C	Single nucleotide variant (synonymous variant +1 more)	Beckwith-Wiedemann syndrome	GLikely benign
Select item 2799652	NM_001122630.2(CDKN1C):c.787+4A>G	CDKN1C	Single nucleotide variant (intron variant)	Beckwith-Wiedemann syndrome	GUncertain significance
Select item 2798288	NM_001122630.2(CDKN1C):c.70G>A (p.Gly24Arg)	CDKN1C (G24R +1 more)	Single nucleotide variant (missense variant)	Beckwith-Wiedemann syndrome	GUncertain significance
Select item 2794993	NM_001122630.2(CDKN1C):c.703A>G (p.Ile235Val)	CDKN1C (I235V +1 more)	Single nucleotide variant (missense variant +1 more)	Beckwith-Wiedemann syndrome	GUncertain significance
Select item 2792363	NM_001122630.2(CDKN1C):c.758T>G (p.Ile253Ser)	CDKN1C (I253S +1 more)	Single nucleotide variant (missense variant +1 more)	Beckwith-Wiedemann syndrome	GUncertain significance
Select item 2787576	NM_001122630.2(CDKN1C):c.740G>C (p.Ser247Thr)	CDKN1C (S247T +1 more)	Single nucleotide variant (missense variant +1 more)	Beckwith-Wiedemann syndrome	GUncertain significance
Select item 2779052	NM_001122630.2(CDKN1C):c.542del (p.Pro181fs)	CDKN1C (P181fs +1 more)	Deletion (frameshift variant +1 more)	Beckwith-Wiedemann syndrome	GPathogenic
Select item 2778206	NM_001122630.2(CDKN1C):c.552C>G (p.Val184=)	CDKN1C	Single nucleotide variant (synonymous variant +1 more)	Beckwith-Wiedemann syndrome	GLikely benign

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