ClinVar for MedGen (Select 1618709) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2675420	NM_003977.4(AIP):c.844dup (p.Gln282fs)	AIP (G280fs +2 more)	Duplication (frameshift variant)	Somatotroph adenoma	GLikely pathogenic
Select item 2675417	NM_003977.4(AIP):c.279G>A (p.Lys93=)	AIP	Single nucleotide variant (synonymous variant)	Somatotroph adenoma +1 more	GUncertain significance
Select item 2675412	NM_003977.4(AIP):c.301_423del (p.Val101_Leu141del)	AIP	Deletion (inframe deletion)	Somatotroph adenoma	GLikely pathogenic
Select item 2675408	NM_003977.4(AIP):c.649C>G (p.Gln217Glu)	AIP (Q158E +1 more)	Single nucleotide variant (missense variant)	Somatotroph adenoma	GUncertain significance
Select item 2675388	NM_003977.4(AIP):c.879G>T (p.Glu293Asp)	AIP (E234D +1 more)	Single nucleotide variant (missense variant +1 more)	Somatotroph adenoma	GUncertain significance
Select item 2675379	NM_003977.4(AIP):c.16G>A (p.Ala6Thr)	AIP (A6T)	Single nucleotide variant (missense variant)	Somatotroph adenoma	GUncertain significance
Select item 2675373	NM_003977.4(AIP):c.807C>G (p.Phe269Leu)	AIP (F210L +2 more)	Single nucleotide variant (missense variant)	Somatotroph adenoma	GUncertain significance
Select item 2675343	NM_003977.4(AIP):c.887C>A (p.Pro296Gln)	AIP (P237Q +1 more)	Single nucleotide variant (missense variant +1 more)	Somatotroph adenoma	GUncertain significance
Select item 2675313	NM_003977.4(AIP):c.523A>C (p.Lys175Gln)	AIP (K116Q +1 more)	Single nucleotide variant (missense variant)	Somatotroph adenoma +1 more	GUncertain significance
Select item 2582409	NM_003977.4(AIP):c.504_510del (p.Pro167_Trp168insTer)	AIP	Deletion (nonsense)	Somatotroph adenoma	GLikely pathogenic
Select item 1767202	NM_003977.4(AIP):c.950A>G (p.Asp317Gly)	AIP (D258G +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1692753	NM_003977.4(AIP):c.476G>A (p.Ser159Asn)	AIP (S100N +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1430344	NM_003977.4(AIP):c.140G>A (p.Gly47Asp)	AIP, LOC130006206 (G47D)	Single nucleotide variant (5 prime UTR variant +1 more)	Somatotroph adenoma +2 more	GUncertain significance
Select item 1117565	NM_003977.4(AIP):c.792C>T (p.Asn264=)	AIP (R262C)	Single nucleotide variant (synonymous variant +1 more)	Pituitary dependent hypercortisolism +3 more	GLikely benign
Select item 1063510	NM_003977.4(AIP):c.79G>C (p.Asp27His)	AIP (D27H)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1022659	NM_003977.4(AIP):c.164C>T (p.Ala55Val)	AIP, LOC130006206 (A55V)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1017703	NM_003977.4(AIP):c.261G>C (p.Gln87His)	AIP, LOC130006206 (Q28H +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 1005889	NM_003977.4(AIP):c.419C>T (p.Ala140Val)	AIP (A140V +1 more)	Single nucleotide variant (missense variant)	Somatotroph adenoma +2 more	GUncertain significance
Select item 954536	NM_003977.4(AIP):c.73C>T (p.Leu25Phe)	AIP (L25F)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 938119	NM_003977.4(AIP):c.784G>A (p.Asp262Asn)	AIP (D262N +1 more)	Single nucleotide variant (missense variant +1 more)	Somatotroph adenoma +2 more	GUncertain significance
Select item 879697	NM_003977.4(AIP):c.-85C>T	AIP	Single nucleotide variant (5 prime UTR variant)	Somatotroph adenoma	GUncertain significance
Select item 877267	NM_003977.4(AIP):c.249G>A (p.Gly83=)	AIP, LOC130006206	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 877266	NM_003977.4(AIP):c.166C>T (p.Arg56Cys)	AIP, LOC130006206 (R56C)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +2 more	GUncertain significance
Select item 861039	NM_003977.4(AIP):c.115C>T (p.Arg39Trp)	AIP, LOC130006206 (R39W)	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 841525	NM_003977.4(AIP):c.745G>A (p.Glu249Lys)	AIP (E190K +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 835629	NM_003977.4(AIP):c.415G>T (p.Asp139Tyr)	AIP (D80Y +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 826974	NM_003977.4(AIP):c.733G>A (p.Glu245Lys)	AIP (E186K +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 826944	NM_003977.4(AIP):c.727G>T (p.Val243Leu)	AIP (V184L +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 826838	NM_003977.4(AIP):c.70G>C (p.Glu24Gln)	AIP (E24Q)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 825931	NM_003977.4(AIP):c.573C>T (p.Arg191=)	AIP	Single nucleotide variant (synonymous variant)	Somatotroph adenoma +3 more	GLikely benign
Select item 825923	NM_003977.4(AIP):c.571C>T (p.Arg191Cys)	AIP (R191C +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 825866	NM_003977.4(AIP):c.563G>A (p.Arg188Gln)	AIP (R188Q +1 more)	Single nucleotide variant (missense variant)	AIP-related condition +3 more	GUncertain significance
Select item 825235	NM_003977.4(AIP):c.485C>T (p.Thr162Met)	AIP (T162M +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 825143	NM_003977.4(AIP):c.474G>T (p.Glu158Asp)	AIP (E158D +1 more)	Single nucleotide variant (missense variant)	Somatotroph adenoma +2 more	GUncertain significance
Select item 824564	NM_003977.4(AIP):c.406G>T (p.Ala136Ser)	AIP (A136S +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 824229	NM_003977.4(AIP):c.379A>G (p.Met127Val)	AIP (M127V +1 more)	Single nucleotide variant (missense variant)	Somatotroph adenoma +2 more	GUncertain significance
Select item 824050	NM_003977.4(AIP):c.366C>T (p.Cys122=)	AIP	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GBenign/Likely benign
Select item 823449	NM_003977.4(AIP):c.974G>A (p.Arg325Gln)	AIP (R266Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 823287	NM_003977.4(AIP):c.949G>T (p.Asp317Tyr)	AIP (D258Y +1 more)	Single nucleotide variant (missense variant +1 more)	Familial isolated pituitary adenoma +3 more	GUncertain significance
Select item 823001	NM_003977.4(AIP):c.908G>A (p.Ser303Asn)	AIP (S303N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 820621	NM_003977.4(AIP):c.205A>G (p.Lys69Glu)	AIP, LOC130006206 (K69E +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 819659	NM_003977.4(AIP):c.160C>T (p.Arg54Trp)	AIP, LOC130006206 (R54W)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +2 more	GUncertain significance
Select item 819423	NM_003977.4(AIP):c.151G>A (p.Asp51Asn)	AIP, LOC130006206 (D51N)	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 819248	NM_003977.4(AIP):c.144C>T (p.Thr48=)	AIP, LOC130006206	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 819007	NM_003977.4(AIP):c.136G>A (p.Glu46Lys)	AIP, LOC130006206 (E46K)	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 759986	NM_003977.4(AIP):c.692C>T (p.Thr231Met)	AIP (T172M +1 more)	Single nucleotide variant (missense variant)	Somatotroph adenoma +2 more	GConflicting classifications of pathogenicity
Select item 485072	NM_003977.4(AIP):c.355C>T (p.Arg119Trp)	AIP (R119W +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 485067	NM_003977.4(AIP):c.572G>A (p.Arg191His)	AIP (R191H +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 485065	NM_003977.4(AIP):c.609C>T (p.Tyr203=)	AIP	Single nucleotide variant (synonymous variant)	Somatotroph adenoma +2 more	GLikely benign
Select item 485059	NM_003977.4(AIP):c.316C>T (p.Arg106Cys)	AIP (R106C +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 485056	NM_003977.4(AIP):c.827C>T (p.Ala276Val)	AIP (A276V +1 more)	Single nucleotide variant (missense variant +1 more)	Somatotroph adenoma +4 more	GConflicting classifications of pathogenicity
Select item 485053	NM_003977.4(AIP):c.382C>T (p.Arg128Cys)	AIP (R128C +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 485052	NM_003977.4(AIP):c.26G>A (p.Arg9Gln)	AIP (R9Q)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 446503	NM_001370259.2(MEN1):c.*412G>A	MEN1	Single nucleotide variant (3 prime UTR variant)	Somatotroph adenoma	GLikely pathogenic
Select item 446502	NM_001370259.2(MEN1):c.1831T>A (p.Ter611Arg)	MEN1	Single nucleotide variant (stop lost)	Somatotroph adenoma	GPathogenic
Select item 424705	NM_003977.3(AIP):c.[878_879delAGinsGT];[880_891delCTGGACCCAGCC]			Somatotroph adenoma	GLikely pathogenic
Select item 424704	NM_003977.3(AIP):c.[-125-145_-125-144delCGinsAA];[-125-95G>A]			Somatotroph adenoma	GLikely pathogenic
Select item 417936	NM_080425.4(GNAS):c.1455C>A (p.Ala485=)	GNAS (P423H)	Single nucleotide variant (missense variant +2 more)	McCune-Albright syndrome +8 more	GBenign/Likely benign
Select item 417934	NM_080425.4(GNAS):c.1200C>A (p.Ala400=)	GNAS (P338Q)	Single nucleotide variant (missense variant +2 more)	Cushing syndrome +7 more	GUncertain significance
Select item 305736	NM_003977.4(AIP):c.*64G>A	AIP	Single nucleotide variant (3 prime UTR variant)	Somatotroph adenoma	GBenign
Select item 305735	NM_003977.4(AIP):c.*60G>C	AIP	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 305734	NM_003977.4(AIP):c.944A>C (p.Gln315Pro)	AIP (Q315P +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 305733	NM_003977.4(AIP):c.906G>A (p.Val302=)	AIP	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GLikely benign
Select item 305732	NM_003977.4(AIP):c.891C>A (p.Ala297=)	AIP	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GBenign
Select item 305731	NM_003977.4(AIP):c.753G>A (p.Leu251=)	AIP	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GBenign/Likely benign
Select item 305729	NM_003977.4(AIP):c.517G>A (p.Glu173Lys)	AIP (E173K +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 305728	NM_003977.4(AIP):c.516C>T (p.Asp172=)	AIP	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GBenign
Select item 305727	NM_003977.4(AIP):c.468+3G>A	AIP	Single nucleotide variant (intron variant)	not provided +2 more	GUncertain significance
Select item 305726	NM_003977.4(AIP):c.301G>A (p.Val101Met)	AIP (V101M +1 more)	Single nucleotide variant (missense variant)	Somatotroph adenoma +3 more	GConflicting classifications of pathogenicity
Select item 305725	NM_003977.4(AIP):c.102C>G (p.Ala34=)	AIP, LOC130006206	Single nucleotide variant (5 prime UTR variant +1 more)	Somatotroph adenoma	GUncertain significance
Select item 305724	NM_003977.4(AIP):c.68G>A (p.Gly23Glu)	AIP (G23E)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 305723	NM_003977.4(AIP):c.36G>A (p.Gly12=)	AIP	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign
Select item 305722	NM_003977.4(AIP):c.-2G>C	AIP	Single nucleotide variant (5 prime UTR variant)	Somatotroph adenoma	GUncertain significance
Select item 305721	NM_003977.4(AIP):c.-12C>G	AIP	Single nucleotide variant (5 prime UTR variant)	Somatotroph adenoma	GUncertain significance
Select item 305720	NM_003977.4(AIP):c.-23A>G	AIP	Single nucleotide variant (5 prime UTR variant)	Somatotroph adenoma	GBenign
Select item 305719	NM_003977.4(AIP):c.-84C>G	AIP	Single nucleotide variant (5 prime UTR variant)	Somatotroph adenoma	GBenign
Select item 305302	NM_001370259.2(MEN1):c.*470A>G	MEN1	Single nucleotide variant (3 prime UTR variant)	Somatotroph adenoma +3 more	GConflicting classifications of pathogenicity
Select item 259206	NM_003977.4(AIP):c.920= (p.Arg307=)	AIP	Single nucleotide variant (no sequence alteration)	not specified +3 more	GBenign
Select item 259205	NM_003977.4(AIP):c.682C>A (p.Gln228Lys)	AIP (Q228K +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 259204	NM_003977.4(AIP):c.132C>T (p.Asp44=)	AIP, LOC130006206	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +3 more	GBenign
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 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 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 41214	NM_003977.4(AIP):c.896C>T (p.Ala299Val)	AIP (A299V +1 more)	Single nucleotide variant (missense variant +1 more)	AIP-related condition +3 more	GConflicting classifications of pathogenicity
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 41212	NM_003977.4(AIP):c.829G>C (p.Ala277Pro)	AIP (A277P +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 41210	NM_003977.4(AIP):c.811C>T (p.Arg271Trp)	AIP (R271W +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic/Likely pathogenic
Select item 41209	NM_003977.4(AIP):c.807C>T (p.Phe269=)	AIP (Q267*)	Single nucleotide variant (synonymous variant +1 more)	AIP-related condition +3 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 41205	NM_003977.4(AIP):c.783C>T (p.Tyr261=)	AIP	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 41204	NM_003977.4(AIP):c.769A>G (p.Ile257Val)	AIP (I257V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 41203	NM_003977.3(AIP):c.74_81delTCCCGGACins7	AIP	Indel	Somatotroph adenoma	GLikely pathogenic
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 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 41199	NM_003977.4(AIP):c.715C>T (p.Gln239Ter)	AIP (Q239* +1 more)	Single nucleotide variant (nonsense)	Somatotroph adenoma	Gnot provided
Select item 41198	NM_003977.4(AIP):c.714C>T (p.Cys238=)	AIP	Single nucleotide variant (synonymous 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)	not provided	GLikely pathogenic
Select item 41196	NM_003977.4(AIP):c.70G>T (p.Glu24Ter)	AIP (E24*)	Single nucleotide variant (nonsense)	not provided	GPathogenic

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