ClinVar for MedGen (Select 373469) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3244322	NC_000012.11:g.(?_12870767)_(12871880_?)dup	CDKN1B	Duplication	Multiple endocrine neoplasia type 4	GUncertain significance
Select item 3241063	NM_004064.5(CDKN1B):c.542C>T (p.Ala181Val)	CDKN1B (A181V)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia type 4	GUncertain significance
Select item 3241062	NM_004064.5(CDKN1B):c.535C>A (p.Pro179Thr)	CDKN1B (P179T)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia type 4	GUncertain significance
Select item 3241061	NM_004064.5(CDKN1B):c.160G>T (p.Glu54Ter)	CDKN1B (E54*)	Single nucleotide variant (nonsense)	Multiple endocrine neoplasia type 4	GLikely pathogenic
Select item 3021963	NM_004064.5(CDKN1B):c.151G>C (p.Asp51His)	CDKN1B (D51H)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia type 4	GUncertain significance
Select item 3006095	NM_004064.5(CDKN1B):c.476-14T>G	CDKN1B	Single nucleotide variant (intron variant)	Multiple endocrine neoplasia type 4	GLikely benign
Select item 2969858	NM_004064.5(CDKN1B):c.174dup (p.Lys59fs)	CDKN1B (K59fs)	Duplication (frameshift variant)	Multiple endocrine neoplasia type 4	GPathogenic
Select item 2958933	NM_004064.5(CDKN1B):c.335G>C (p.Ser112Thr)	CDKN1B (S112T)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia type 4	GUncertain significance
Select item 2956226	NM_004064.5(CDKN1B):c.475+7A>C	CDKN1B	Single nucleotide variant (intron variant)	Multiple endocrine neoplasia type 4	GLikely benign
Select item 2915621	NM_004064.5(CDKN1B):c.40G>A (p.Glu14Lys)	CDKN1B (E14K)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia type 4	GUncertain significance
Select item 2910397	NM_004064.5(CDKN1B):c.444C>A (p.Cys148Ter)	CDKN1B (C148*)	Single nucleotide variant (nonsense)	Multiple endocrine neoplasia type 4	GPathogenic
Select item 2909644	NM_004064.5(CDKN1B):c.295_305dup (p.Gln104fs)	CDKN1B (Q104fs)	Duplication (frameshift variant)	Multiple endocrine neoplasia type 4	GPathogenic
Select item 2893776	NM_004064.5(CDKN1B):c.404C>T (p.Thr135Ile)	CDKN1B (T135I)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia type 4 +1 more	GUncertain significance
Select item 2880542	NM_004064.5(CDKN1B):c.478T>C (p.Ser160Pro)	CDKN1B (S160P)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia type 4	GUncertain significance
Select item 2875395	NM_004064.5(CDKN1B):c.336C>T (p.Ser112=)	CDKN1B	Single nucleotide variant (synonymous variant)	Multiple endocrine neoplasia type 4	GLikely benign
Select item 2870557	NM_004064.5(CDKN1B):c.115G>T (p.Glu39Ter)	CDKN1B (E39*)	Single nucleotide variant (nonsense)	Multiple endocrine neoplasia type 4	GPathogenic
Select item 2863844	NM_004064.5(CDKN1B):c.185del (p.Phe62fs)	CDKN1B (F62fs)	Deletion (frameshift variant)	Multiple endocrine neoplasia type 4	GPathogenic
Select item 2861033	NM_004064.5(CDKN1B):c.448G>T (p.Gly150Ter)	CDKN1B (G150*)	Single nucleotide variant (nonsense)	Multiple endocrine neoplasia type 4	GPathogenic
Select item 2859364	NM_004064.5(CDKN1B):c.307G>A (p.Ala103Thr)	CDKN1B (A103T)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia type 4	GUncertain significance
Select item 2857591	NM_004064.5(CDKN1B):c.447A>G (p.Ala149=)	CDKN1B	Single nucleotide variant (synonymous variant)	Multiple endocrine neoplasia type 4	GLikely benign
Select item 2855450	NM_004064.5(CDKN1B):c.265T>G (p.Tyr89Asp)	CDKN1B (Y89D)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia type 4	GUncertain significance
Select item 2853581	NM_004064.5(CDKN1B):c.560C>G (p.Thr187Arg)	CDKN1B (T187R)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia type 4	GUncertain significance
Select item 2849635	NM_004064.5(CDKN1B):c.475+12T>A	CDKN1B	Single nucleotide variant (intron variant)	Multiple endocrine neoplasia type 4	GLikely benign
Select item 2849436	NM_004064.5(CDKN1B):c.475+2T>C	CDKN1B	Single nucleotide variant (splice donor variant)	Multiple endocrine neoplasia type 4	GUncertain significance
Select item 2846942	NM_004064.5(CDKN1B):c.192T>C (p.Phe64=)	CDKN1B	Single nucleotide variant (synonymous variant)	Multiple endocrine neoplasia type 4	GLikely benign
Select item 2846493	NM_004064.5(CDKN1B):c.338del (p.Arg113fs)	CDKN1B (R113fs)	Deletion (frameshift variant)	Multiple endocrine neoplasia type 4	GPathogenic
Select item 2845295	NM_004064.5(CDKN1B):c.476-18A>T	CDKN1B	Single nucleotide variant (intron variant)	Multiple endocrine neoplasia type 4	GLikely benign
Select item 2828571	NM_004064.5(CDKN1B):c.293C>A (p.Ala98Asp)	CDKN1B (A98D)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia type 4	GUncertain significance
Select item 2828306	NM_004064.5(CDKN1B):c.152A>G (p.Asp51Gly)	CDKN1B (D51G)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia type 4 +1 more	GUncertain significance
Select item 2828299	NM_004064.5(CDKN1B):c.247A>G (p.Ser83Gly)	CDKN1B (S83G)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia type 4	GUncertain significance
Select item 2825313	NM_004064.5(CDKN1B):c.192T>A (p.Phe64Leu)	CDKN1B (F64L)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia type 4	GUncertain significance
Select item 2823743	NM_004064.5(CDKN1B):c.398C>T (p.Pro133Leu)	CDKN1B (P133L)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia type 4	GUncertain significance
Select item 2819739	NM_004064.5(CDKN1B):c.285del (p.Gly97fs)	CDKN1B (G97fs)	Deletion (frameshift variant)	Multiple endocrine neoplasia type 4	GPathogenic
Select item 2818238	NM_004064.5(CDKN1B):c.200A>C (p.His67Pro)	CDKN1B (H67P)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia type 4	GUncertain significance
Select item 2817479	NM_004064.5(CDKN1B):c.156G>T (p.Met52Ile)	CDKN1B (M52I)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia type 4	GUncertain significance
Select item 2814109	NM_004064.5(CDKN1B):c.513A>T (p.Glu171Asp)	CDKN1B (E171D)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia type 4	GUncertain significance
Select item 2812796	NM_004064.5(CDKN1B):c.471C>G (p.Thr157=)	CDKN1B	Single nucleotide variant (synonymous variant)	Multiple endocrine neoplasia type 4	GLikely benign
Select item 2809877	NM_004064.5(CDKN1B):c.475+12T>C	CDKN1B	Single nucleotide variant (intron variant)	Multiple endocrine neoplasia type 4	GLikely benign
Select item 2799856	NM_004064.5(CDKN1B):c.444C>G (p.Cys148Trp)	CDKN1B (C148W)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 2796768	NM_004064.5(CDKN1B):c.591A>G (p.Gln197=)	CDKN1B	Single nucleotide variant (synonymous variant)	Multiple endocrine neoplasia type 4	GUncertain significance
Select item 2795317	NM_004064.5(CDKN1B):c.429G>C (p.Gly143=)	CDKN1B	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 2792911	NM_004064.5(CDKN1B):c.440A>G (p.Gln147Arg)	CDKN1B (Q147R)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia type 4	GUncertain significance
Select item 2789699	NM_004064.5(CDKN1B):c.555G>A (p.Glu185=)	CDKN1B	Single nucleotide variant (synonymous variant)	Multiple endocrine neoplasia type 4	GLikely benign
Select item 2787582	NM_004064.5(CDKN1B):c.475+16C>T	CDKN1B	Single nucleotide variant (intron variant)	Multiple endocrine neoplasia type 4	GLikely benign
Select item 2781934	NM_004064.5(CDKN1B):c.402G>C (p.Lys134Asn)	CDKN1B (K134N)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia type 4	GUncertain significance
Select item 2781689	NM_004064.5(CDKN1B):c.202A>C (p.Lys68Gln)	CDKN1B (K68Q)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia type 4	GUncertain significance
Select item 2778098	NM_004064.5(CDKN1B):c.563C>T (p.Pro188Leu)	CDKN1B (P188L)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia type 4	GUncertain significance
Select item 2775701	NM_004064.5(CDKN1B):c.127C>T (p.Arg43Trp)	CDKN1B (R43W)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia type 4	GUncertain significance
Select item 2772205	NM_004064.5(CDKN1B):c.231A>T (p.Gln77His)	CDKN1B (Q77H)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia type 4	GUncertain significance
Select item 2768597	NM_004064.5(CDKN1B):c.211_217del (p.Glu71fs)	CDKN1B (E71fs)	Deletion (frameshift variant)	Multiple endocrine neoplasia type 4	GPathogenic
Select item 2766234	NM_004064.5(CDKN1B):c.139A>C (p.Lys47Gln)	CDKN1B (K47Q)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia type 4	GUncertain significance
Select item 2765121	NM_004064.5(CDKN1B):c.539A>G (p.Asn180Ser)	CDKN1B (N180S)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia type 4	GUncertain significance
Select item 2764346	NM_004064.5(CDKN1B):c.197A>G (p.Asn66Ser)	CDKN1B (N66S)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia type 4 +1 more	GUncertain significance
Select item 2757918	NM_004064.5(CDKN1B):c.515A>G (p.Glu172Gly)	CDKN1B (E172G)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia type 4	GUncertain significance
Select item 2754668	NM_004064.5(CDKN1B):c.475+20C>G	CDKN1B	Single nucleotide variant (intron variant)	Multiple endocrine neoplasia type 4	GLikely benign
Select item 2754632	NM_004064.5(CDKN1B):c.295T>C (p.Cys99Arg)	CDKN1B (C99R)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia type 4	GUncertain significance
Select item 2751860	NM_004064.5(CDKN1B):c.476-17A>G	CDKN1B	Single nucleotide variant (intron variant)	Multiple endocrine neoplasia type 4	GUncertain significance
Select item 2750914	NM_004064.5(CDKN1B):c.91A>C (p.Asn31His)	CDKN1B (N31H)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia type 4	GUncertain significance
Select item 2749179	NM_004064.5(CDKN1B):c.312_313del (p.Ser106fs)	CDKN1B (S106fs)	Deletion (frameshift variant)	Multiple endocrine neoplasia type 4	GPathogenic
Select item 2749108	NM_004064.5(CDKN1B):c.164_165delinsTA (p.Ala55Val)	CDKN1B (A55V)	Indel (missense variant)	Multiple endocrine neoplasia type 4	GUncertain significance
Select item 2748250	NM_004064.5(CDKN1B):c.306G>A (p.Pro102=)	CDKN1B	Single nucleotide variant (synonymous variant)	Multiple endocrine neoplasia type 4	GLikely benign
Select item 2738231	NM_004064.5(CDKN1B):c.173G>A (p.Arg58His)	CDKN1B (R58H)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia type 4	GUncertain significance
Select item 2736795	NM_004064.5(CDKN1B):c.70C>A (p.Pro24Thr)	CDKN1B (P24T)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia type 4	GUncertain significance
Select item 2727384	NM_004064.5(CDKN1B):c.476-20A>G	CDKN1B	Single nucleotide variant (intron variant)	Multiple endocrine neoplasia type 4	GUncertain significance
Select item 2722610	NM_004064.5(CDKN1B):c.103C>T (p.Pro35Ser)	CDKN1B (P35S)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia type 4	GUncertain significance
Select item 2716663	NM_004064.5(CDKN1B):c.361G>C (p.Ala121Pro)	CDKN1B (A121P)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia type 4	GUncertain significance
Select item 2710936	NM_004064.5(CDKN1B):c.426_427delinsAA (p.Gly143Arg)	CDKN1B (G143R)	Indel (missense variant)	Multiple endocrine neoplasia type 4	GUncertain significance
Select item 2710051	NM_004064.5(CDKN1B):c.476-9T>A	CDKN1B	Single nucleotide variant (intron variant)	Multiple endocrine neoplasia type 4	GUncertain significance
Select item 2707728	NM_004064.5(CDKN1B):c.9del (p.Asn3fs)	CDKN1B (N3fs)	Deletion (frameshift variant)	Multiple endocrine neoplasia type 4	GPathogenic
Select item 2705032	NM_004064.5(CDKN1B):c.275del (p.Pro92fs)	CDKN1B (P92fs)	Deletion (frameshift variant)	Multiple endocrine neoplasia type 4	GPathogenic
Select item 2702393	NM_004064.5(CDKN1B):c.401A>T (p.Lys134Met)	CDKN1B (K134M)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia type 4	GUncertain significance
Select item 2701761	NM_004064.5(CDKN1B):c.399A>G (p.Pro133=)	CDKN1B	Single nucleotide variant (synonymous variant)	Multiple endocrine neoplasia type 4	GLikely benign
Select item 2700986	NM_004064.5(CDKN1B):c.43_44insCCTAGCCTGCAGC (p.Arg15delinsProTer)	CDKN1B	Insertion (nonsense)	Multiple endocrine neoplasia type 4	GPathogenic
Select item 2695719	NM_004064.5(CDKN1B):c.379dup (p.Asp127fs)	CDKN1B (D127fs)	Duplication (frameshift variant)	Multiple endocrine neoplasia type 4	GPathogenic
Select item 2680539	NM_004064.5(CDKN1B):c.476-18A>G	CDKN1B	Single nucleotide variant (intron variant)	Multiple endocrine neoplasia type 4	GLikely pathogenic
Select item 2680537	NM_004064.5(CDKN1B):c.175A>C (p.Lys59Gln)	CDKN1B (K59Q)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia type 4	GUncertain significance
Select item 2680536	NM_004064.5(CDKN1B):c.526G>A (p.Asp176Asn)	CDKN1B (D176N)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia type 4	GUncertain significance
Select item 2680535	NM_004064.5(CDKN1B):c.364_365delinsTT (p.Pro122Leu)	CDKN1B (P122L)	Indel (missense variant)	Multiple endocrine neoplasia type 4	GUncertain significance
Select item 2585894	NM_004064.5(CDKN1B):c.149G>C (p.Arg50Thr)	CDKN1B (R50T)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia type 4 +1 more	GUncertain significance
Select item 2579973	NM_004064.5(CDKN1B):c.229C>T (p.Gln77Ter)	CDKN1B (Q77*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic
Select item 2576587	NM_004064.5(CDKN1B):c.18_23delinsT (p.Ser7fs)	CDKN1B (S7fs)	Indel (frameshift variant)	Multiple endocrine neoplasia type 4	GLikely pathogenic
Select item 2497640	NM_004064.5(CDKN1B):c.571C>T (p.Pro191Ser)	CDKN1B (P191S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 2462092	NM_004064.5(CDKN1B):c.405T>C (p.Thr135=)	CDKN1B	Single nucleotide variant (synonymous variant)	Multiple endocrine neoplasia type 4 +1 more	GLikely benign
Select item 2450782	NM_004064.5(CDKN1B):c.582A>T (p.Arg194Ser)	CDKN1B (R194S)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia type 4 +1 more	GUncertain significance
Select item 2444896	NM_004064.5(CDKN1B):c.216dup (p.Lys73fs)	CDKN1B (K73fs)	Duplication (frameshift variant)	Multiple endocrine neoplasia type 4	GUncertain significance
Select item 2430971	NM_004064.5(CDKN1B):c.416A>T (p.Asp139Val)	CDKN1B (D139V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 2419784	NM_004064.5(CDKN1B):c.375dup (p.Glu126Ter)	CDKN1B (E126*)	Duplication (nonsense)	Multiple endocrine neoplasia type 4	GPathogenic
Select item 2309785	NM_004064.5(CDKN1B):c.478T>A (p.Ser160Thr)	CDKN1B (S160T)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia type 4 +1 more	GUncertain significance
Select item 2184949	NM_004064.5(CDKN1B):c.475+13del	CDKN1B	Deletion (intron variant)	Multiple endocrine neoplasia type 4	GLikely benign
Select item 2181832	NM_004064.5(CDKN1B):c.475+13dup	CDKN1B	Duplication (intron variant)	Multiple endocrine neoplasia type 4	GLikely benign
Select item 2174430	NM_004064.5(CDKN1B):c.340C>G (p.Pro114Ala)	CDKN1B (P114A)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia type 4 +1 more	GUncertain significance
Select item 2170241	NM_004064.5(CDKN1B):c.504C>T (p.Asn168=)	CDKN1B	Single nucleotide variant (synonymous variant)	Multiple endocrine neoplasia type 4	GLikely benign
Select item 2165309	NM_004064.5(CDKN1B):c.305C>A (p.Pro102Gln)	CDKN1B (P102Q)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia type 4	GUncertain significance
Select item 2162151	NM_004064.5(CDKN1B):c.173G>T (p.Arg58Leu)	CDKN1B (R58L)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia type 4	GUncertain significance
Select item 2161470	NM_004064.5(CDKN1B):c.410C>G (p.Pro137Arg)	CDKN1B (P137R)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia type 4 +1 more	GUncertain significance
Select item 2149967	NM_004064.5(CDKN1B):c.71C>G (p.Pro24Arg)	CDKN1B (P24R)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia type 4	GUncertain significance
Select item 2149177	NM_004064.5(CDKN1B):c.392T>C (p.Val131Ala)	CDKN1B (V131A)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia type 4	GUncertain significance
Select item 2144026	NM_004064.5(CDKN1B):c.293C>T (p.Ala98Val)	CDKN1B (A98V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 2142061	NM_004064.5(CDKN1B):c.409C>G (p.Pro137Ala)	CDKN1B (P137A)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia type 4 +1 more	GConflicting classifications of pathogenicity
Select item 2140529	NM_004064.5(CDKN1B):c.27_29del (p.Ser10del)	CDKN1B (S10del)	Deletion (inframe_deletion)	Multiple endocrine neoplasia type 4	GUncertain significance

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