ClinVar for PubMed (Select 23321498) - ClinVar

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Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2874782	NM_003977.4(AIP):c.376C>T (p.Gln126Ter)	AIP (Q67* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2870459	NM_003977.4(AIP):c.41_47del (p.Gln14fs)	AIP (Q14fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2735676	NM_003977.4(AIP):c.816del (p.Lys273fs)	AIP (K214fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2735674	NM_003977.4(AIP):c.733GAG[1] (p.Glu246del)	AIP (E187del +1 more)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2735673	NM_003977.4(AIP):c.427C>T (p.Gln143Ter)	AIP (Q143* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2709292	NM_003977.4(AIP):c.252_253del (p.Glu84fs)	AIP, LOC130006206 (E84fs +1 more)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 2700398	NM_003977.4(AIP):c.874del (p.Leu292fs)	AIP (L292fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2424800	NC_000011.9:g.(?_67250360)_(67250738_?)del	AIP	Deletion	not provided	GPathogenic
Select item 2424799	NC_000011.9:g.(?_67250360)_(67258464_?)del	AIP	Deletion	not provided	GPathogenic
Select item 2089494	NM_001370259.2(MEN1):c.1305_1306del (p.Trp436fs)	MEN1 (W401fs +3 more)	Deletion (frameshift variant)	Multiple endocrine neoplasia, type 1	GPathogenic
Select item 2023118	NM_003977.4(AIP):c.493C>T (p.Gln165Ter)	AIP (Q165* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2003707	NM_001370259.2(MEN1):c.1391_1392insCAGAGGCCGAGGC (p.Ala465fs)	MEN1 (A465fs +3 more)	Insertion (frameshift variant)	Multiple endocrine neoplasia, type 1	GPathogenic
Select item 1457487	NC_000011.9:g.(?_67250360)_(67254666_?)del	AIP	Deletion	not provided	GPathogenic
Select item 1455922	NM_003977.4(AIP):c.673C>T (p.Gln225Ter)	AIP (Q166* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1437576	NM_003977.4(AIP):c.553G>T (p.Glu185Ter)	AIP (E126* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1428442	NM_003977.4(AIP):c.343dup (p.Leu115fs)	AIP (L115fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1076941	NM_003977.4(AIP):c.259C>T (p.Gln87Ter)	AIP, LOC130006206 (Q28* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1076609	NM_003977.4(AIP):c.600del (p.Lys201fs)	AIP (K142fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1068574	NM_003977.4(AIP):c.504G>A (p.Trp168Ter)	AIP (W109* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 964143	NM_003977.4(AIP):c.663del (p.Glu222fs)	AIP (E222fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 958713	NM_003977.4(AIP):c.85C>T (p.Gln29Ter)	AIP (Q29*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 940770	NM_003977.4(AIP):c.685C>T (p.Gln229Ter)	AIP (Q229* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 857520	NM_001370259.2(MEN1):c.1633C>T (p.Pro545Ser)	MEN1 (P545S +3 more)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia, type 1 +1 more	GUncertain significance
Select item 852290	NM_001370259.2(MEN1):c.691G>C (p.Asp231His)	MEN1 (D231H +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 826413	NM_003977.4(AIP):c.645+2T>C	AIP	Single nucleotide variant (splice donor variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 819433	NM_001370259.2(MEN1):c.1539del (p.Arg516fs)	MEN1 (R521fs +3 more)	Deletion (frameshift variant)	Multiple endocrine neoplasia, type 1 +1 more	GPathogenic/Likely pathogenic
Select item 279852	NM_001370259.2(MEN1):c.1546dup (p.Arg516fs)	MEN1 (R481fs +3 more)	Duplication (frameshift variant)	Multiple endocrine neoplasia, type 1 +2 more	GPathogenic
Select item 201021	NM_001370259.2(MEN1):c.1533_1534dup (p.Ser512fs)	MEN1 (S512fs +3 more)	Microsatellite (frameshift variant)	Multiple endocrine neoplasia, type 1 +2 more	GPathogenic
Select item 201016	NM_001370259.2(MEN1):c.1324C>T (p.Gln442Ter)	MEN1 (Q442* +3 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 200999	NM_001370259.2(MEN1):c.1546del (p.Arg516fs)	MEN1 (R516fs +3 more)	Deletion (frameshift variant)	not provided +2 more	GPathogenic
Select item 200987	NM_001370259.2(MEN1):c.1618C>T (p.Pro540Ser)	MEN1 (P540S +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +7 more	GConflicting classifications of pathogenicity
Select item 96253	NM_001370259.2(MEN1):c.655-6C>T	MEN1	Single nucleotide variant (intron variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 41196	NM_003977.4(AIP):c.70G>T (p.Glu24Ter)	AIP (E24*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 41194	NM_003977.4(AIP):c.649C>T (p.Gln217Ter)	AIP (Q217* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 41188	NM_003977.4(AIP):c.550C>T (p.Gln184Ter)	AIP (Q184* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 41167	NM_003977.4(AIP):c.241C>T (p.Arg81Ter)	AIP, LOC130006206 (R81* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 41166	NM_003977.4(AIP):c.174G>C (p.Lys58Asn)	AIP, LOC130006206 (K58N)	Single nucleotide variant (5 prime UTR variant +1 more)	Somatotroph adenoma +2 more	GUncertain significance
Select item 4893	NM_003977.4(AIP):c.911G>A (p.Arg304Gln)	AIP (R304Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 4888	NM_003977.4(AIP):c.910C>T (p.Arg304Ter)	AIP (R304* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided +2 more	GPathogenic
Select item 4886	NM_003977.4(AIP):c.40C>T (p.Gln14Ter)	AIP (Q14*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic

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Items: 40