Related gene-specific medical variations for Gene (Select 9049) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3279627	NM_003977.4(AIP):c.250G>C (p.Glu84Gln)	AIP, LOC130006206 (E25Q +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3279563	NM_003977.4(AIP):c.151GAC[1] (p.Asp52del)	AIP, LOC130006206 (D52del)	Microsatellite (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3279548	NM_003977.4(AIP):c.200dup (p.Phe68fs)	AIP, LOC130006206 (F9fs +1 more)	Duplication (frameshift variant)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 3279517	NM_003977.4(AIP):c.239T>C (p.Met80Thr)	AIP, LOC130006206 (M21T +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3244752	NC_000011.9:g.(?_67250360)_(67257938_?)dup	AIP	Duplication	not provided	GUncertain significance
Select item 3244751	NC_000011.9:g.(?_67257767)_(67258624_?)del	AIP	Deletion	not provided	GPathogenic
Select item 3241359	NM_003977.4(AIP):c.419C>A (p.Ala140Asp)	AIP (A140D +1 more)	Single nucleotide variant (missense variant)	Somatotroph adenoma	GUncertain significance
Select item 3241329	NM_003977.4(AIP):c.362G>T (p.Cys121Phe)	AIP (C121F +1 more)	Single nucleotide variant (missense variant)	Somatotroph adenoma	GUncertain significance
Select item 3241322	NM_003977.4(AIP):c.13A>G (p.Ile5Val)	AIP (I5V)	Single nucleotide variant (missense variant)	Somatotroph adenoma	GUncertain significance
Select item 3223607	NM_003977.4(AIP):c.167G>T (p.Arg56Leu)	AIP, LOC130006206 (R56L)	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3053944	NM_003977.4(AIP):c.147G>C (p.Val49=)	AIP, LOC130006206	Single nucleotide variant (5 prime UTR variant +1 more)	AIP-related disorder	GLikely benign
Select item 2996240	NM_003977.4(AIP):c.100-6C>T	AIP, LOC130006206	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2954776	NM_003977.4(AIP):c.100-5C>T	AIP, LOC130006206	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 2897012	NM_003977.4(AIP):c.171C>G (p.Gly57=)	AIP, LOC130006206	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2856094	NM_003977.4(AIP):c.121C>G (p.Leu41Val)	AIP, LOC130006206 (L41V)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2834365	NM_003977.4(AIP):c.173A>G (p.Lys58Arg)	AIP, LOC130006206 (K58R)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2833367	NM_003977.4(AIP):c.201G>A (p.Lys67=)	AIP, LOC130006206	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2827962	NM_003977.4(AIP):c.245A>G (p.Glu82Gly)	AIP, LOC130006206 (E23G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2823790	NM_003977.4(AIP):c.141C>T (p.Gly47=)	LOC130006206, AIP	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2822775	NM_003977.4(AIP):c.100-15G>C	LOC130006206, AIP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2783025	NM_003977.4(AIP):c.258C>T (p.Ala86=)	AIP, LOC130006206	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2769664	NM_003977.4(AIP):c.204C>G (p.Phe68Leu)	AIP, LOC130006206 (F68L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 2690993	NM_003977.4(AIP):c.619G>C (p.Ala207Pro)	AIP (A148P +1 more)	Single nucleotide variant (missense variant)	Pituitary adenoma predisposition	GUncertain significance
Select item 2675420	NM_003977.4(AIP):c.844dup (p.Gln282fs)	AIP (G280fs +2 more)	Duplication (frameshift variant)	Somatotroph adenoma	GLikely pathogenic
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 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 2586856	NM_003977.4(AIP):c.201G>T (p.Lys67Asn)	AIP, LOC130006206 (K67N +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2586855	NM_003977.4(AIP):c.157A>C (p.Ser53Arg)	AIP, LOC130006206 (S53R)	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2586846	NM_003977.4(AIP):c.206A>T (p.Lys69Met)	AIP, LOC130006206 (K10M +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2582409	NM_003977.4(AIP):c.504_510del (p.Pro167_Trp168insTer)	AIP	Deletion (nonsense)	Somatotroph adenoma	GLikely pathogenic
Select item 2566786	NM_003977.4(AIP):c.100-3C>T	AIP, LOC130006206	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2500438	NM_003977.4(AIP):c.182A>T (p.Glu61Val)	AIP, LOC130006206 (E2V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2481055	NM_003977.4(AIP):c.106T>G (p.Phe36Val)	AIP, LOC130006206 (F36V)	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2452495	NM_003977.4(AIP):c.124C>G (p.His42Asp)	AIP, LOC130006206 (H42D)	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2452486	NM_003977.4(AIP):c.247G>C (p.Gly83Arg)	AIP, LOC130006206 (G24R +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2447162	NM_003977.4(AIP):c.188T>C (p.Ile63Thr)	AIP, LOC130006206 (I63T +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2419610	NM_003977.4(AIP):c.100-3C>G	AIP, LOC130006206	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2127517	NM_003977.4(AIP):c.109C>T (p.His37Tyr)	AIP, LOC130006206 (H37Y)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2120028	NM_003977.4(AIP):c.225C>G (p.Thr75=)	LOC130006206, AIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2105815	NM_003977.4(AIP):c.192T>G (p.Ile64Met)	AIP, LOC130006206 (I64M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2102813	NM_003977.4(AIP):c.135C>G (p.Asp45Glu)	AIP, LOC130006206 (D45E)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2102628	NM_003977.4(AIP):c.189C>A (p.Ile63=)	AIP, LOC130006206	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2087473	NM_003977.4(AIP):c.127A>G (p.Ser43Gly)	AIP, LOC130006206 (S43G)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2010264	NM_003977.4(AIP):c.152A>G (p.Asp51Gly)	AIP, LOC130006206 (D51G)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2008182	NM_003977.4(AIP):c.208C>G (p.Leu70Val)	AIP, LOC130006206 (L70V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1930944	NM_003977.4(AIP):c.646-4C>T	AIP, MIR6752	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1794793	NM_003977.4(AIP):c.268T>C (p.Cys90Arg)	AIP, LOC130006206 (C31R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1794305	NM_003977.4(AIP):c.264C>T (p.Phe88=)	AIP, LOC130006206	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1792185	NM_003977.4(AIP):c.249G>C (p.Gly83=)	LOC130006206, AIP	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1790991	NM_003977.4(AIP):c.241C>A (p.Arg81=)	AIP, LOC130006206	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1790270	NM_003977.4(AIP):c.236C>T (p.Thr79Ile)	AIP, LOC130006206 (T20I +1 more)	Single nucleotide variant (missense variant)	Somatotroph adenoma +2 more	GUncertain significance
Select item 1789712	NM_003977.4(AIP):c.232T>C (p.Cys78Arg)	AIP, LOC130006206 (C19R +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1789561	NM_003977.4(AIP):c.231G>T (p.Val77=)	AIP, LOC130006206	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1787561	NM_003977.4(AIP):c.219G>A (p.Trp73Ter)	AIP, LOC130006206 (W14* +1 more)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 1785709	NM_003977.4(AIP):c.208C>T (p.Leu70=)	AIP, LOC130006206	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1785033	NM_003977.4(AIP):c.204C>T (p.Phe68=)	AIP, LOC130006206	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1784747	NM_003977.4(AIP):c.202T>C (p.Phe68Leu)	AIP, LOC130006206 (F68L +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1782653	NM_003977.4(AIP):c.191T>C (p.Ile64Thr)	AIP, LOC130006206 (I5T +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1781656	NM_003977.4(AIP):c.186C>T (p.Leu62=)	AIP, LOC130006206	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1778701	NM_003977.4(AIP):c.171C>A (p.Gly57=)	AIP, LOC130006206	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1777879	NM_003977.4(AIP):c.167G>C (p.Arg56Pro)	AIP, LOC130006206 (R56P)	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1777021	NM_003977.4(AIP):c.163G>T (p.Ala55Ser)	AIP, LOC130006206 (A55S)	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1775024	NM_003977.4(AIP):c.154G>A (p.Asp52Asn)	AIP, LOC130006206 (D52N)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 1774401	NM_003977.4(AIP):c.151G>C (p.Asp51His)	AIP, LOC130006206 (D51H)	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1774171	NM_003977.4(AIP):c.150G>A (p.Leu50=)	AIP, LOC130006206	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1773746	NM_003977.4(AIP):c.148C>T (p.Leu50=)	AIP, LOC130006206	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1771994	NM_003977.4(AIP):c.140G>C (p.Gly47Ala)	AIP, LOC130006206 (G47A)	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1770561	NM_003977.4(AIP):c.134A>T (p.Asp45Val)	AIP, LOC130006206 (D45V)	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1769332	NM_003977.4(AIP):c.129T>C (p.Ser43=)	AIP, LOC130006206	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1736248	NM_003977.4(AIP):c.115C>A (p.Arg39=)	LOC130006206, AIP	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1728034	NM_003977.4(AIP):c.112T>C (p.Tyr38His)	AIP, LOC130006206 (Y38H)	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1719855	NM_003977.4(AIP):c.235A>G (p.Thr79Ala)	AIP, LOC130006206 (T20A +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1717420	NM_003977.4(AIP):c.184C>T (p.Leu62Phe)	AIP, LOC130006206 (L3F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1715305	NM_003977.4(AIP):c.206A>C (p.Lys69Thr)	AIP, LOC130006206 (K10T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1673800	NM_003977.4(AIP):c.105G>T (p.Thr35=)	AIP, LOC130006206	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 1658411	NM_003977.4(AIP):c.100-17T>G	AIP, LOC130006206	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1658276	NM_003977.4(AIP):c.100-16C>T	AIP, LOC130006206	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1652039	NM_003977.4(AIP):c.646-10A>T	AIP, MIR6752	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1643181	NM_003977.4(AIP):c.646-10A>G	AIP, MIR6752	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1637587	NM_003977.4(AIP):c.100-13A>T	AIP, LOC130006206	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1620193	NM_003977.4(AIP):c.144C>G (p.Thr48=)	AIP, LOC130006206	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 1612490	NM_003977.4(AIP):c.213T>G (p.Pro71=)	AIP, LOC130006206	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 1590790	NM_003977.4(AIP):c.100-15G>A	AIP, LOC130006206	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1585349	NM_003977.4(AIP):c.646-20C>G	MIR6752, AIP	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1581829	NM_003977.4(AIP):c.646-14C>T	AIP, MIR6752	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1566651	NM_003977.4(AIP):c.646-12C>T	AIP, MIR6752	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1543340	NM_003977.4(AIP):c.123G>A (p.Leu41=)	AIP, LOC130006206	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 1536895	NM_003977.4(AIP):c.100-13A>G	AIP, LOC130006206	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1536395	NM_003977.4(AIP):c.100-4A>C	AIP, LOC130006206	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1516920	NM_003977.4(AIP):c.136G>C (p.Glu46Gln)	AIP, LOC130006206 (E46Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1516459	NM_003977.4(AIP):c.145G>T (p.Val49Leu)	AIP, LOC130006206 (V49L)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1508933	NM_003977.4(AIP):c.178A>G (p.Met60Val)	AIP, LOC130006206 (M60V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1500478	NM_003977.4(AIP):c.155A>G (p.Asp52Gly)	AIP, LOC130006206 (D52G)	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1493680	NM_003977.4(AIP):c.126C>G (p.His42Gln)	AIP, LOC130006206 (H42Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1491142	NM_003977.4(AIP):c.238A>C (p.Met80Leu)	AIP, LOC130006206 (M80L +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 1490596	NM_003977.4(AIP):c.256G>A (p.Ala86Thr)	AIP, LOC130006206 (A27T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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