"GeneReviews"[submitter] AND "AIP"[gene] - ClinVar

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Items: 65

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 41158	NC_000011.10:g.67481947_67487763del	LOC130006206, LOC130006207 +3 more	Deletion (genic upstream transcript variant)	Somatotroph adenoma	GLikely pathogenic
Select item 41159	NM_003977.4(AIP):c.-5G>C	AIP	Single nucleotide variant (5 prime UTR variant)	Somatotroph adenoma	Gnot provided
Select item 41173	NM_003977.4(AIP):c.2T>C (p.Met1Thr)	AIP (M1T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 41177	NM_003977.4(AIP):c.3_4insC (p.Ala2fs)	AIP (A2fs)	Insertion (frameshift variant)	Somatotroph adenoma	Gnot provided
Select item 41184	NM_003977.4(AIP):c.47G>A (p.Arg16His)	AIP (R16H)	Single nucleotide variant (missense variant)	Familial isolated pituitary adenoma +3 more	GConflicting classifications of pathogenicity
Select item 4894	NM_003977.4(AIP):c.64C>T (p.Arg22Ter)	AIP (R22*)	Single nucleotide variant (nonsense)	Somatotroph adenoma	GPathogenic
Select item 4889	NM_003977.4(AIP):c.66_71del (p.Gly23_Glu24del)	AIP	Deletion (inframe_deletion)	Somatotroph adenoma	GPathogenic
Select item 41196	NM_003977.4(AIP):c.70G>T (p.Glu24Ter)	AIP (E24*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 41203	NM_003977.3(AIP):c.74_81delTCCCGGACins7	AIP	Indel	Somatotroph adenoma	GLikely pathogenic
Select item 41161	NM_003977.4(AIP):c.100-1025_279+357del	AIP, LOC130006206 +1 more	Deletion (splice acceptor variant +2 more)	Somatotroph adenoma	GLikely pathogenic
Select item 41162	NM_003977.4(AIP):c.135C>T (p.Asp45=)	AIP, LOC130006206	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 41163	NM_003977.4(AIP):c.140_163del (p.Gly47_Arg54del)	AIP, LOC130006206	Deletion (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 41164	NM_003977.4(AIP):c.145G>A (p.Val49Met)	AIP, LOC130006206 (V49M)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 41165	NM_003977.4(AIP):c.166C>A (p.Arg56Ser)	AIP, LOC130006206 (R56S)	Single nucleotide variant (5 prime UTR variant +1 more)	Somatotroph adenoma	Gnot provided
Select item 41166	NM_003977.4(AIP):c.174G>C (p.Lys58Asn)	LOC130006206, AIP (K58N)	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 41167	NM_003977.4(AIP):c.241C>T (p.Arg81Ter)	AIP, LOC130006206 (R81* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 41168	NM_003977.4(AIP):c.245_249del (p.Glu82fs)	AIP, LOC130006206 (E23fs +1 more)	Deletion (frameshift variant)	Somatotroph adenoma	Gnot provided
Select item 41169	NM_003977.4(AIP):c.249G>T (p.Gly83=)	AIP, LOC130006206	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 41170	NM_003977.4(AIP):c.250G>A (p.Glu84Lys)	AIP, LOC130006206 (E84K +1 more)	Single nucleotide variant (missense variant)	Somatotroph adenoma	Gnot provided
Select item 41171	NM_003977.4(AIP):c.280-1G>A	AIP	Single nucleotide variant (splice acceptor variant)	Somatotroph adenoma	Gnot provided
Select item 41172	NM_003977.4(AIP):c.286_287del (p.Val96fs)	AIP (V37fs +1 more)	Deletion (frameshift variant)	Somatotroph adenoma	Gnot provided
Select item 41174	NM_003977.4(AIP):c.308A>G (p.Lys103Arg)	AIP (K103R +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 41175	NM_003977.4(AIP):c.350del (p.Gly117fs)	AIP (G117fs +1 more)	Deletion (frameshift variant)	Somatotroph adenoma	Gnot provided
Select item 41176	NM_003977.4(AIP):c.383G>A (p.Arg128His)	AIP (R128H +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 41178	NM_003977.4(AIP):c.404del (p.His135fs)	AIP (H135fs +1 more)	Deletion (frameshift variant)	Somatotroph adenoma	Gnot provided
Select item 41179	NM_003977.4(AIP):c.424C>T (p.Gln142Ter)	AIP (Q142* +1 more)	Single nucleotide variant (nonsense)	Somatotroph adenoma	Gnot provided
Select item 41180	NM_003977.4(AIP):c.429G>A (p.Gln143=)	AIP	Single nucleotide variant (synonymous variant)	Somatotroph adenoma	Gnot provided
Select item 41182	NM_003977.4(AIP):c.468+1G>A	AIP	Single nucleotide variant (splice donor variant)	Somatotroph adenoma	Gnot provided
Select item 41181	NM_003977.4(AIP):c.468+16G>T	AIP	Single nucleotide variant (intron variant)	Somatotroph adenoma	GLikely benign
Select item 41183	NM_003977.4(AIP):c.469-2A>G	AIP	Single nucleotide variant (splice acceptor variant)	Somatotroph adenoma	Gnot provided
Select item 4887	NM_003977.4(AIP):c.469-1G>A	AIP	Single nucleotide variant (splice acceptor variant)	Somatotroph adenoma	GPathogenic
Select item 41185	NM_003977.4(AIP):c.490C>T (p.Gln164Ter)	AIP (Q164* +1 more)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 41186	NM_003977.4(AIP):c.500del (p.Pro167fs)	AIP (P108fs +1 more)	Deletion (frameshift variant)	Somatotroph adenoma	Gnot provided
Select item 41187	NM_003977.4(AIP):c.521_525del (p.Glu174fs)	AIP (E115fs +1 more)	Deletion (frameshift variant)	Somatotroph adenoma	Gnot provided
Select item 4891	NM_003977.4(AIP):c.543del (p.Ile182fs)	AIP (I182fs +1 more)	Deletion (frameshift variant)	Somatotroph adenoma	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 41189	NM_003977.4(AIP):c.584T>C (p.Val195Ala)	AIP (V195A +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 41190	NM_003977.4(AIP):c.591G>A (p.Glu197=)	AIP	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GBenign/Likely benign
Select item 41191	NM_003977.4(AIP):c.601A>T (p.Lys201Ter)	AIP (K201* +1 more)	Single nucleotide variant (nonsense)	Somatotroph adenoma	Gnot provided
Select item 41193	NM_003977.4(AIP):c.646G>T (p.Glu216Ter)	AIP (E216* +1 more)	Single nucleotide variant (nonsense)	Somatotroph adenoma	Gnot provided
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 41195	NM_003977.4(AIP):c.662dup (p.Pro221_Glu222insTer)	AIP	Duplication (frameshift variant)	Somatotroph adenoma	Gnot provided
Select item 41197	NM_003977.4(AIP):c.713G>A (p.Cys238Tyr)	AIP (C238Y +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely pathogenic
Select item 41198	NM_003977.4(AIP):c.714C>T (p.Cys238=)	AIP	Single nucleotide variant (synonymous variant)	Somatotroph adenoma	Gnot provided
Select item 41199	NM_003977.4(AIP):c.715C>T (p.Gln239Ter)	AIP (Q239* +1 more)	Single nucleotide variant (nonsense)	Somatotroph adenoma	Gnot provided
Select item 41201	NM_003977.4(AIP):c.721A>T (p.Lys241Ter)	AIP (K241* +1 more)	Single nucleotide variant (nonsense)	Somatotroph adenoma	Gnot provided
Select item 41200	NM_003977.4(AIP):c.721A>G (p.Lys241Glu)	AIP (K241E +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 41202	NM_003977.4(AIP):c.739TAC[1] (p.Tyr248del)	AIP (Y248del +1 more)	Microsatellite (inframe_deletion)	Somatotroph adenoma	Gnot provided
Select item 41204	NM_003977.4(AIP):c.769A>G (p.Ile257Val)	AIP (I257V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 41205	NM_003977.4(AIP):c.783C>T (p.Tyr261=)	AIP	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 41208	NM_003977.4(AIP):c.805_825dup (p.Phe269_His275dup)	AIP	Duplication (inframe_insertion)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 41206	NM_003977.4(AIP):c.803A>G (p.Tyr268Cys)	AIP (Y268C +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 4892	NM_003977.4(AIP):c.804C>A (p.Tyr268Ter)	AIP (Y268* +2 more)	Single nucleotide variant (nonsense +1 more)	Somatotroph adenoma +1 more	GPathogenic
Select item 41209	NM_003977.4(AIP):c.807C>T (p.Phe269=)	AIP (Q267*)	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 41210	NM_003977.4(AIP):c.811C>T (p.Arg271Trp)	AIP (R271W +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 4890	NM_003977.4(AIP):c.824dup (p.His275fs)	AIP (R273fs +2 more)	Duplication (frameshift variant)	Somatotroph adenoma	GPathogenic
Select item 41212	NM_003977.4(AIP):c.829G>C (p.Ala277Pro)	AIP (A277P +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 41213	NM_003977.4(AIP):c.854_857del (p.Gln285fs)	AIP (G283fs +2 more)	Deletion (frameshift variant)	Somatotroph adenoma	Gnot provided
Select item 41214	NM_003977.4(AIP):c.896C>T (p.Ala299Val)	AIP (A299V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 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)	Somatotroph adenoma +2 more	GPathogenic
Select item 4893	NM_003977.4(AIP):c.911G>A (p.Arg304Gln)	AIP (R304Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 41215	NM_003977.4(AIP):c.919dup (p.Arg307fs)	AIP (R307fs +1 more)	Duplication (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 41216	NM_003977.4(AIP):c.965C>T (p.Ala322Val)	AIP (A322V +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 41217	NM_003977.4(AIP):c.987C>T (p.Ser329=)	AIP	Single nucleotide variant (synonymous variant +1 more)	Somatotroph adenoma	Gnot provided
Select item 41160	NM_003977.2(AIP):c.(?_1)_(*_?)del	AIP	Deletion	Somatotroph adenoma	GLikely pathogenic

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Items: 65