4221[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1185882	NC_000011.10:g.64803263G>A	LOC130005958, MEN1	Single nucleotide variant	not provided	GLikely benign
Select item 1217550	NC_000011.10:g.64803369G>T	MEN1	Single nucleotide variant	not provided	GLikely benign
Select item 572762	NM_000244.3(MEN1):c.1366_*820del1303 (p.Val456_Ter(616_?)(?))	MEN1 (V451fs)	Deletion	Multiple endocrine neoplasia, type 1	GPathogenic
Select item 417317	NC_000011.10:g.(?_64803514)_(64804816_?)del	MEN1	Deletion	Multiple endocrine neoplasia, type 1	GPathogenic
Select item 417316	NC_000011.10:g.(?_64803514)_(64810132_?)del	MEN1	Deletion	Multiple endocrine neoplasia, type 1	GPathogenic
Select item 305295	NM_001370259.2(MEN1):c.*794G>A	MEN1	Single nucleotide variant (3 prime UTR variant)	Multiple endocrine neoplasia, type 1 +1 more	GBenign/Likely benign
Select item 877477	NM_001370259.2(MEN1):c.*693T>C	MEN1	Single nucleotide variant (3 prime UTR variant)	Multiple endocrine neoplasia, type 1 +1 more	GUncertain significance
Select item 305296	NM_001370259.2(MEN1):c.*570C>A	MEN1	Single nucleotide variant (3 prime UTR variant)	Multiple endocrine neoplasia +1 more	GUncertain significance
Select item 305297	NM_001370259.2(MEN1):c.*560G>T	MEN1	Single nucleotide variant (3 prime UTR variant)	Multiple endocrine neoplasia +1 more	GUncertain significance
Select item 305298	NM_001370259.2(MEN1):c.*557C>A	MEN1	Single nucleotide variant (3 prime UTR variant)	Multiple endocrine neoplasia +1 more	GUncertain significance
Select item 305299	NM_001370259.2(MEN1):c.*533C>T	MEN1	Single nucleotide variant (3 prime UTR variant)	Multiple endocrine neoplasia +1 more	GUncertain significance
Select item 305300	NM_001370259.2(MEN1):c.*529A>G	MEN1	Single nucleotide variant (3 prime UTR variant)	Multiple endocrine neoplasia +1 more	GUncertain significance
Select item 305301	NM_001370259.2(MEN1):c.*527G>T	MEN1	Single nucleotide variant (3 prime UTR variant)	Multiple endocrine neoplasia +1 more	GUncertain significance
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 305303	NM_001370259.2(MEN1):c.*438C>T	MEN1	Single nucleotide variant (3 prime UTR variant)	Multiple endocrine neoplasia, type 1 +1 more	GUncertain significance
Select item 446503	NM_001370259.2(MEN1):c.*412G>A	MEN1	Single nucleotide variant (3 prime UTR variant)	Somatotroph adenoma	GLikely pathogenic
Select item 3051545	NM_001370259.2(MEN1):c.*407C>T	MEN1	Single nucleotide variant (3 prime UTR variant +1 more)	MEN1-related condition	GLikely benign
Select item 878507	NM_001370259.2(MEN1):c.*400G>A	MEN1	Single nucleotide variant (3 prime UTR variant)	Multiple endocrine neoplasia, type 1 +1 more	GUncertain significance
Select item 305304	NM_001370259.2(MEN1):c.*392G>A	MEN1	Single nucleotide variant (3 prime UTR variant)	Multiple endocrine neoplasia, type 1 +1 more	GUncertain significance
Select item 305305	NM_001370259.2(MEN1):c.*373G>C	MEN1	Single nucleotide variant (3 prime UTR variant)	Hyperparathyroidism +1 more	GUncertain significance
Select item 878508	NM_001370259.2(MEN1):c.*341C>G	MEN1	Single nucleotide variant (3 prime UTR variant)	Multiple endocrine neoplasia, type 1 +1 more	GUncertain significance
Select item 305306	NM_001370259.2(MEN1):c.*300CTC[2]	MEN1	Microsatellite (3 prime UTR variant)	Multiple endocrine neoplasia +1 more	GLikely benign
Select item 305307	NM_001370259.2(MEN1):c.*307T>G	MEN1	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign/Likely benign
Select item 305308	NM_001370259.2(MEN1):c.*302C>T	MEN1	Single nucleotide variant (3 prime UTR variant)	Multiple endocrine neoplasia, type 1 +2 more	GBenign/Likely benign
Select item 305309	NM_001370259.2(MEN1):c.*272T>C	MEN1	Single nucleotide variant (3 prime UTR variant)	Multiple endocrine neoplasia, type 1 +1 more	GUncertain significance
Select item 879089	NM_001370259.2(MEN1):c.*245C>T	MEN1	Single nucleotide variant (3 prime UTR variant)	Multiple endocrine neoplasia, type 1 +1 more	GUncertain significance
Select item 305310	NM_001370259.2(MEN1):c.*185C>T	MEN1	Single nucleotide variant (3 prime UTR variant)	Multiple endocrine neoplasia, type 1 +1 more	GBenign/Likely benign
Select item 580649	NM_001370259.2(MEN1):c.1351-2_*132del	MEN1	Deletion (splice acceptor variant)	Multiple endocrine neoplasia, type 1	GPathogenic
Select item 880309	NM_001370259.2(MEN1):c.*126C>T	MEN1	Single nucleotide variant (3 prime UTR variant)	Hyperparathyroidism +2 more	GConflicting classifications of pathogenicity
Select item 305311	NM_001370259.2(MEN1):c.*104C>T	MEN1	Single nucleotide variant (3 prime UTR variant)	Multiple endocrine neoplasia, type 1 +1 more	GUncertain significance
Select item 305312	NM_001370259.2(MEN1):c.*89G>A	MEN1	Single nucleotide variant (3 prime UTR variant)	Multiple endocrine neoplasia, type 1 +1 more	GUncertain significance
Select item 560773	NM_001370259.2(MEN1):c.*16G>A	MEN1	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 655218	NC_000011.10:g.(?_64804324)_(64810716_?)del	MEN1	Deletion	Multiple endocrine neoplasia, type 1	GPathogenic
Select item 3073162	NM_001370259.2(MEN1):c.*5C>G	MEN1	Single nucleotide variant (3 prime UTR variant +1 more)	Multiple endocrine neoplasia, type 1	GLikely benign
Select item 1802788	NM_001370259.2(MEN1):c.*3T>A	MEN1	Single nucleotide variant (3 prime UTR variant)	not specified	GLikely benign
Select item 2815238	NM_001370259.2(MEN1):c.1831_1832del (p.Ter611AsnextTer?)	MEN1	Deletion (frameshift variant +2 more)	Multiple endocrine neoplasia, type 1	GUncertain significance
Select item 2626587	NM_001370259.2(MEN1):c.1831dup (p.Ter611LeuextTer?)	MEN1	Duplication (frameshift variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 446502	NM_001370259.2(MEN1):c.1831T>A (p.Ter611Arg)	MEN1	Single nucleotide variant (stop lost)	Somatotroph adenoma	GPathogenic
Select item 2761444	NM_001370259.2(MEN1):c.1830C>G (p.Leu610=)	MEN1	Single nucleotide variant (synonymous variant +1 more)	Multiple endocrine neoplasia, type 1	GLikely benign
Select item 1780880	NM_001370259.2(MEN1):c.1828C>G (p.Leu610Val)	MEN1 (L617V +6 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1014223	NM_001370259.2(MEN1):c.1828C>T (p.Leu610Phe)	MEN1 (L575F +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 527289	NM_001370259.2(MEN1):c.1826G>T (p.Gly609Val)	MEN1 (G614V +3 more)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia, type 1	GLikely benign
Select item 3075324	NM_001370259.2(MEN1):c.1824A>C (p.Lys608Asn)	MEN1 (K553N +6 more)	Single nucleotide variant (missense variant +1 more)	Multiple endocrine neoplasia, type 1	GUncertain significance
Select item 1487775	NM_001370259.2(MEN1):c.1822A>G (p.Lys608Glu)	MEN1 (K608E +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1780765	NM_001370259.2(MEN1):c.1821C>G (p.Arg607=)	MEN1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1581065	NM_001370259.2(MEN1):c.1821C>T (p.Arg607=)	MEN1	Single nucleotide variant (synonymous variant)	Multiple endocrine neoplasia, type 1 +1 more	GLikely benign
Select item 2755858	NM_001370259.2(MEN1):c.1819C>A (p.Arg607Ser)	MEN1 (R552S +6 more)	Single nucleotide variant (missense variant +1 more)	Multiple endocrine neoplasia, type 1	GUncertain significance
Select item 1008780	NM_001370259.2(MEN1):c.1819C>T (p.Arg607Cys)	MEN1 (R572C +3 more)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia, type 1	GUncertain significance
Select item 1920616	NM_001370259.2(MEN1):c.1818G>A (p.Gln606=)	MEN1	Single nucleotide variant (synonymous variant +1 more)	Multiple endocrine neoplasia, type 1	GLikely benign
Select item 940093	NM_001370259.2(MEN1):c.1814G>T (p.Arg605Leu)	MEN1 (R605L +3 more)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia, type 1	GUncertain significance
Select item 200992	NM_001370259.2(MEN1):c.1814G>A (p.Arg605Gln)	MEN1 (R605Q +3 more)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia, type 1	GUncertain significance
Select item 1378004	NM_001370259.2(MEN1):c.1813C>G (p.Arg605Gly)	MEN1 (R610G +3 more)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia, type 1	GUncertain significance
Select item 2564969	NM_001370259.2(MEN1):c.1812G>T (p.Lys604Asn)	MEN1 (K604N +6 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2134642	NM_001370259.2(MEN1):c.1812G>C (p.Lys604Asn)	MEN1 (K604N +6 more)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia, type 1	GUncertain significance
Select item 2450216	NM_001370259.2(MEN1):c.1811A>C (p.Lys604Thr)	MEN1 (K604T +6 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 955094	NM_001370259.2(MEN1):c.1805dup (p.Leu603fs)	MEN1 (L568fs +3 more)	Duplication (frameshift variant)	Multiple endocrine neoplasia, type 1	GUncertain significance
Select item 412571	NM_001370259.2(MEN1):c.1806C>T (p.Phe602=)	MEN1	Single nucleotide variant (synonymous variant)	Multiple endocrine neoplasia, type 1 +1 more	GLikely benign
Select item 3072087	NM_001370259.2(MEN1):c.1800_1803del (p.Phe602fs)	MEN1 (F547fs +6 more)	Deletion (frameshift variant +1 more)	Multiple endocrine neoplasia, type 1	GUncertain significance
Select item 2693380	NM_001370259.2(MEN1):c.1798_1803del (p.Leu600_Ser601del)	MEN1	Deletion (inframe_deletion +1 more)	Multiple endocrine neoplasia, type 1	GUncertain significance
Select item 1720343	NM_001370259.2(MEN1):c.1802C>G (p.Ser601Cys)	MEN1 (S546C +6 more)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia, type 1	GUncertain significance
Select item 2000284	NM_001370259.2(MEN1):c.1800_1801del (p.Ser601fs)	MEN1 (S566fs +3 more)	Deletion (frameshift variant)	Multiple endocrine neoplasia, type 1	GUncertain significance
Select item 1013726	NM_001370259.2(MEN1):c.1801T>C (p.Ser601Pro)	MEN1 (S566P +3 more)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia, type 1	GUncertain significance
Select item 2007820	NM_001370259.2(MEN1):c.1800G>A (p.Leu600=)	MEN1	Single nucleotide variant (synonymous variant +1 more)	Multiple endocrine neoplasia, type 1	GLikely benign
Select item 1962891	NM_001370259.2(MEN1):c.1800G>C (p.Leu600=)	MEN1	Single nucleotide variant (synonymous variant +1 more)	Multiple endocrine neoplasia, type 1	GLikely benign
Select item 457316	NM_001370259.2(MEN1):c.1800G>T (p.Leu600=)	MEN1	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 457315	NM_001370259.2(MEN1):c.1798_1799del (p.Leu600fs)	MEN1 (L605fs +3 more)	Microsatellite (frameshift variant)	Multiple endocrine neoplasia, type 1	GUncertain significance
Select item 1131294	NM_001370259.2(MEN1):c.1798C>T (p.Leu600=)	MEN1	Single nucleotide variant (synonymous variant)	Multiple endocrine neoplasia, type 1	GLikely benign
Select item 1151272	NM_001370259.2(MEN1):c.1797T>C (p.Thr599=)	MEN1	Single nucleotide variant (synonymous variant)	Multiple endocrine neoplasia, type 1	GLikely benign
Select item 2624633	NM_001370259.2(MEN1):c.1795A>T (p.Thr599Ser)	MEN1 (T604S +6 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1008251	NM_001370259.2(MEN1):c.1795A>G (p.Thr599Ala)	MEN1 (T564A +3 more)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia, type 1	GUncertain significance
Select item 1109078	NM_001370259.2(MEN1):c.1794C>T (p.Tyr598=)	MEN1	Single nucleotide variant (synonymous variant)	Multiple endocrine neoplasia, type 1	GLikely benign
Select item 2756461	NM_001370259.2(MEN1):c.1792T>C (p.Tyr598His)	MEN1 (Y645H +6 more)	Single nucleotide variant (missense variant +1 more)	Multiple endocrine neoplasia, type 1	GUncertain significance
Select item 1780193	NM_001370259.2(MEN1):c.1791C>T (p.Asp597=)	MEN1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1897053	NM_001370259.2(MEN1):c.1790A>C (p.Asp597Ala)	MEN1 (D562A +6 more)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia, type 1	GUncertain significance
Select item 1414313	NM_001370259.2(MEN1):c.1787G>C (p.Ser596Thr)	MEN1 (S596T +3 more)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia, type 1	GUncertain significance
Select item 1359596	NM_001370259.2(MEN1):c.1784C>G (p.Pro595Arg)	MEN1 (P560R +3 more)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia, type 1	GUncertain significance
Select item 1496704	NM_001370259.2(MEN1):c.1783C>T (p.Pro595Ser)	MEN1 (P595S +3 more)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia, type 1	GUncertain significance
Select item 2829382	NM_001370259.2(MEN1):c.1782C>T (p.Thr594=)	MEN1	Single nucleotide variant (synonymous variant +1 more)	Multiple endocrine neoplasia, type 1	GLikely benign
Select item 1780019	NM_001370259.2(MEN1):c.1782C>A (p.Thr594=)	MEN1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1780002	NM_001370259.2(MEN1):c.1781C>A (p.Thr594Asn)	MEN1 (T539N +6 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 820066	NM_001370259.2(MEN1):c.1781C>T (p.Thr594Ile)	MEN1 (T599I +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2113688	NM_001370259.2(MEN1):c.1780A>C (p.Thr594Pro)	MEN1 (T594P +6 more)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia, type 1	GUncertain significance
Select item 983145	NM_001370259.2(MEN1):c.1780A>G (p.Thr594Ala)	MEN1 (T559A +3 more)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia, type 1	GUncertain significance
Select item 457314	NM_001370259.2(MEN1):c.1779C>T (p.Ser593=)	MEN1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 575287	NM_001370259.2(MEN1):c.1777T>C (p.Ser593Pro)	MEN1 (S593P +3 more)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia, type 1 +1 more	GConflicting classifications of pathogenicity
Select item 1525376	NM_001370259.2(MEN1):c.1775T>C (p.Val592Ala)	MEN1 (V597A +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 2870969	NM_001370259.2(MEN1):c.1770G>A (p.Gln590=)	MEN1	Single nucleotide variant (synonymous variant +1 more)	Multiple endocrine neoplasia, type 1	GLikely benign
Select item 1350235	NM_001370259.2(MEN1):c.1770G>C (p.Gln590His)	MEN1 (Q595H +3 more)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia, type 1	GUncertain significance
Select item 573100	NM_001370259.2(MEN1):c.1762AAG[1] (p.Lys589del)	MEN1 (K589del +3 more)	Microsatellite (inframe_deletion)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 2761267	NM_001370259.2(MEN1):c.1766A>T (p.Lys589Met)	MEN1 (K554M +6 more)	Single nucleotide variant (missense variant +1 more)	Multiple endocrine neoplasia, type 1	GUncertain significance
Select item 215962	NM_001370259.2(MEN1):c.1764G>A (p.Lys588=)	MEN1	Single nucleotide variant (synonymous variant)	Multiple endocrine neoplasia +4 more	GConflicting classifications of pathogenicity
Select item 457313	NM_001370259.2(MEN1):c.1761G>A (p.Met587Ile)	MEN1 (M587I +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1779526	NM_001370259.2(MEN1):c.1759A>T (p.Met587Leu)	MEN1 (M592L +6 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 527305	NM_001370259.2(MEN1):c.1758G>A (p.Gln586=)	MEN1	Single nucleotide variant (synonymous variant)	Multiple endocrine neoplasia, type 1	GLikely benign
Select item 2095800	NM_001370259.2(MEN1):c.1756C>T (p.Gln586Ter)	MEN1 (Q531* +6 more)	Single nucleotide variant (nonsense)	Multiple endocrine neoplasia, type 1	GLikely pathogenic
Select item 1155689	NM_001370259.2(MEN1):c.1755G>A (p.Val585=)	MEN1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 1038249	NM_001370259.2(MEN1):c.1754T>A (p.Val585Glu)	MEN1 (V627E +3 more)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia, type 1	GUncertain significance
Select item 659280	NM_001370259.2(MEN1):c.1754T>G (p.Val585Gly)	MEN1 (V590G +3 more)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia, type 1	GUncertain significance
Select item 3069362	NM_001370259.2(MEN1):c.1752A>G (p.Gln584=)	MEN1	Single nucleotide variant (synonymous variant +1 more)	Multiple endocrine neoplasia, type 1	GUncertain significance
Select item 1158914	NM_001370259.2(MEN1):c.1749G>T (p.Ser583=)	MEN1	Single nucleotide variant (synonymous variant)	Multiple endocrine neoplasia, type 1	GLikely benign

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