ClinVar for Gene (Select 4221) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3244557	NC_000011.9:g.(?_64550219)_(64573119_?)del	MAP4K2, MEN1	Deletion	Multiple endocrine neoplasia, type 1	GPathogenic
Select item 3244556	NC_000011.9:g.(?_64573385)_(64575394_?)del	MEN1	Deletion	Multiple endocrine neoplasia, type 1	GPathogenic
Select item 3244555	NC_000011.9:g.(?_64572175)_(64575826_?)del	MEN1	Deletion	Multiple endocrine neoplasia, type 1	GPathogenic
Select item 3244554	NC_000011.9:g.(?_64572622)_(64586228_?)del	MEN1	Deletion	Multiple endocrine neoplasia, type 1	GPathogenic
Select item 3244553	NC_000011.9:g.(?_64570260)_(64572077_?)del	MAP4K2, MEN1	Deletion	Multiple endocrine neoplasia, type 1	GPathogenic
Select item 3244552	NC_000011.9:g.(?_64567607)_(64572007_?)del	MAP4K2, MEN1	Deletion	Multiple endocrine neoplasia, type 1	GPathogenic
Select item 3244550	NC_000011.9:g.(?_63731700)_(64572142_?)del	BAD, CATSPERZ +28 more	Deletion	Multiple endocrine neoplasia, type 1	GPathogenic
Select item 3244549	NC_000011.9:g.(?_64571806)_(64575581_?)del	MEN1	Deletion	Multiple endocrine neoplasia, type 1	GPathogenic
Select item 3244548	NC_000011.9:g.(?_64574479)_(64584006_?)del	MEN1	Deletion	Multiple endocrine neoplasia, type 1	GPathogenic
Select item 3244547	NC_000011.9:g.(?_64575343)_(64578188_?)del	MEN1	Deletion	Multiple endocrine neoplasia, type 1	GPathogenic
Select item 3244546	NC_000011.9:g.(?_64578102)_(64578188_?)del	MEN1	Deletion	Multiple endocrine neoplasia, type 1	GUncertain significance
Select item 3241914	NM_001370259.2(MEN1):c.1778C>T (p.Ser593Phe)	MEN1 (S538F +6 more)	Single nucleotide variant (missense variant +1 more)	Multiple endocrine neoplasia, type 1	GUncertain significance
Select item 3241913	NM_001370259.2(MEN1):c.1039G>A (p.Val347Ile)	MEN1 (V312I +2 more)	Single nucleotide variant (missense variant +1 more)	Multiple endocrine neoplasia, type 1	GUncertain significance
Select item 3241912	NM_001370259.2(MEN1):c.1760T>G (p.Met587Arg)	MEN1 (M532R +6 more)	Single nucleotide variant (missense variant +1 more)	Multiple endocrine neoplasia, type 1	GUncertain significance
Select item 3241911	NM_001370259.2(MEN1):c.1502_1513del (p.Asp501_Leu504del)	MEN1	Deletion (inframe_deletion +2 more)	Multiple endocrine neoplasia, type 1	GUncertain significance
Select item 3241910	NM_001370259.2(MEN1):c.1588G>A (p.Glu530Lys)	MEN1 (E475K +6 more)	Single nucleotide variant (missense variant +1 more)	Multiple endocrine neoplasia, type 1	GUncertain significance
Select item 3241909	NM_001370259.2(MEN1):c.1473G>T (p.Glu491Asp)	MEN1 (E436D +6 more)	Single nucleotide variant (missense variant +1 more)	Multiple endocrine neoplasia, type 1	GUncertain significance
Select item 3241908	NM_001370259.2(MEN1):c.14C>T (p.Ala5Val)	MEN1 (A5V)	Single nucleotide variant (missense variant +1 more)	Multiple endocrine neoplasia, type 1	GUncertain significance
Select item 3236212	NM_001370259.2(MEN1):c.721T>G (p.Cys241Gly)	MEN1 (C206G +2 more)	Single nucleotide variant (missense variant +1 more)	Multiple endocrine neoplasia, type 1	GUncertain significance
Select item 3235102	NM_001370259.2(MEN1):c.1350+2T>G	MEN1	Single nucleotide variant (splice donor variant +1 more)	Multiple endocrine neoplasia, type 1	GPathogenic
Select item 3235101	NM_001370259.2(MEN1):c.644T>A (p.Val215Glu)	MEN1 (V215E +1 more)	Single nucleotide variant (missense variant +2 more)	Multiple endocrine neoplasia, type 1	GLikely pathogenic
Select item 3235100	NM_001370259.2(MEN1):c.450del (p.Lys151fs)	MEN1 (K151fs +1 more)	Deletion (frameshift variant +1 more)	Multiple endocrine neoplasia, type 1	GPathogenic
Select item 3233280	NM_001370259.2(MEN1):c.493T>C (p.Cys165Arg)	MEN1 (C165R +1 more)	Single nucleotide variant (missense variant +1 more)	Multiple endocrine neoplasia, type 1	GLikely pathogenic
Select item 3229120	NM_001370259.2(MEN1):c.993C>A (p.Asn331Lys)	MEN1 (N296K +2 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3229119	NM_001370259.2(MEN1):c.977G>T (p.Gly326Val)	MEN1 (G291V +2 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3229118	NM_001370259.2(MEN1):c.977G>A (p.Gly326Asp)	MEN1 (G291D +2 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3229117	NM_001370259.2(MEN1):c.961T>A (p.Tyr321Asn)	MEN1 (Y286N +2 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3229116	NM_001370259.2(MEN1):c.940C>A (p.Arg314=)	MEN1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3229114	NM_001370259.2(MEN1):c.904T>A (p.Tyr302Asn)	MEN1 (Y267N +2 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3229113	NM_001370259.2(MEN1):c.902T>A (p.Leu301His)	MEN1 (L266H +2 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3229112	NM_001370259.2(MEN1):c.888A>C (p.Pro296=)	MEN1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3229111	NM_001370259.2(MEN1):c.861G>T (p.Glu287Asp)	MEN1 (E252D +2 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3229110	NM_001370259.2(MEN1):c.809T>A (p.Leu270Gln)	MEN1 (L235Q +2 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3229109	NM_001370259.2(MEN1):c.79C>A (p.Leu27Met)	MEN1 (L27M)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3229108	NM_001370259.2(MEN1):c.742del (p.Asp248fs)	MEN1 (D213fs +2 more)	Deletion (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 3229107	NM_001370259.2(MEN1):c.715A>T (p.Met239Leu)	MEN1 (M204L +2 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3229106	NM_001370259.2(MEN1):c.689G>A (p.Cys230Tyr)	MEN1 (C195Y +2 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3229105	NM_001370259.2(MEN1):c.62G>T (p.Arg21Leu)	MEN1 (R21L)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3229104	NM_001370259.2(MEN1):c.545C>T (p.Ala182Val)	MEN1 (A182V +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3229103	NM_001370259.2(MEN1):c.53A>T (p.Asp18Val)	MEN1 (D18V)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3229102	NM_001370259.2(MEN1):c.494G>C (p.Cys165Ser)	MEN1 (C165S +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3229101	NM_001370259.2(MEN1):c.475T>G (p.Phe159Val)	MEN1 (F159V +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3229100	NM_001370259.2(MEN1):c.460A>T (p.Ser154Cys)	MEN1 (S154C +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3229099	NM_001370259.2(MEN1):c.449C>A (p.Thr150Asn)	MEN1 (T150N +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3229098	NM_001370259.2(MEN1):c.400T>A (p.Phe134Ile)	MEN1 (F134I)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3229097	NM_001370259.2(MEN1):c.399C>A (p.Tyr133Ter)	MEN1 (Y133*)	Single nucleotide variant (nonsense +1 more)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 3229096	NM_001370259.2(MEN1):c.376T>A (p.Trp126Arg)	MEN1 (W126R)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3229095	NM_001370259.2(MEN1):c.363C>G (p.Val121=)	MEN1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3229094	NM_001370259.2(MEN1):c.343C>A (p.Arg115Ser)	MEN1 (R115S)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3229093	NM_001370259.2(MEN1):c.294A>C (p.Arg98=)	MEN1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3229092	NM_001370259.2(MEN1):c.255_261del (p.Ile85fs)	MEN1 (I85fs)	Deletion (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 3229090	NM_001370259.2(MEN1):c.191A>C (p.Gln64Pro)	MEN1 (Q64P)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3229089	NM_001370259.2(MEN1):c.1825G>C (p.Gly609Arg)	MEN1 (G554R +6 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3229088	NM_001370259.2(MEN1):c.1823A>C (p.Lys608Thr)	MEN1 (K553T +6 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3229087	NM_001370259.2(MEN1):c.1798C>G (p.Leu600Val)	MEN1 (L545V +6 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3229086	NM_001370259.2(MEN1):c.1798C>A (p.Leu600Met)	MEN1 (L545M +6 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3229085	NM_001370259.2(MEN1):c.1789G>A (p.Asp597Asn)	MEN1 (D542N +6 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3229084	NM_001370259.2(MEN1):c.1785T>A (p.Pro595=)	MEN1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3229083	NM_001370259.2(MEN1):c.176C>T (p.Pro59Leu)	MEN1 (P59L)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3229082	NM_001370259.2(MEN1):c.1749G>A (p.Ser583=)	MEN1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3229081	NM_001370259.2(MEN1):c.1744C>A (p.Gln582Lys)	MEN1 (Q527K +6 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3229080	NM_001370259.2(MEN1):c.1736T>A (p.Leu579His)	MEN1 (L524H +6 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3229079	NM_001370259.2(MEN1):c.1714T>A (p.Ser572Thr)	MEN1 (S517T +6 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3229078	NM_001370259.2(MEN1):c.1700CCA[1] (p.Thr568del)	MEN1 (T513del +6 more)	Microsatellite (inframe_deletion +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3229077	NM_001370259.2(MEN1):c.1694dup (p.Val566fs)	MEN1 (V511fs +6 more)	Duplication (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 3229076	NM_001370259.2(MEN1):c.1640A>T (p.Glu547Val)	MEN1 (E492V +6 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3229075	NM_001370259.2(MEN1):c.1638G>C (p.Pro546=)	MEN1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3229074	NM_001370259.2(MEN1):c.1637C>A (p.Pro546Gln)	MEN1 (P491Q +6 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3229073	NM_001370259.2(MEN1):c.1629A>C (p.Ser543=)	MEN1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3229072	NM_001370259.2(MEN1):c.1626A>T (p.Ala542=)	MEN1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3229071	NM_001370259.2(MEN1):c.1594G>A (p.Gly532Ser)	MEN1 (G477S +6 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3229070	NM_001370259.2(MEN1):c.1590A>T (p.Glu530Asp)	MEN1 (E475D +6 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3229069	NM_001370259.2(MEN1):c.1578C>G (p.Ala526=)	MEN1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3229068	NM_001370259.2(MEN1):c.1530A>T (p.Ala510=)	MEN1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3229067	NM_001370259.2(MEN1):c.1523A>T (p.Gln508Leu)	MEN1 (Q453L +6 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3229066	NM_001370259.2(MEN1):c.151A>C (p.Asn51His)	MEN1 (N51H)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3229065	NM_001370259.2(MEN1):c.1481C>G (p.Pro494Arg)	MEN1 (P439R +6 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3229064	NM_001370259.2(MEN1):c.1475C>G (p.Pro492Arg)	MEN1 (P437R +6 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3229063	NM_001370259.2(MEN1):c.1472A>C (p.Glu491Ala)	MEN1 (E436A +6 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3229062	NM_001370259.2(MEN1):c.1433G>C (p.Gly478Ala)	MEN1 (G423A +6 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3229061	NM_001370259.2(MEN1):c.1425C>T (p.Ala475=)	MEN1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3229060	NM_001370259.2(MEN1):c.1422A>C (p.Glu474Asp)	MEN1 (E419D +6 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3229059	NM_001370259.2(MEN1):c.1365G>T (p.Val455=)	MEN1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3229058	NM_001370259.2(MEN1):c.1349A>G (p.Gln450Arg)	MEN1 (Q415R +5 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3229057	NM_001370259.2(MEN1):c.1343A>T (p.Glu448Val)	MEN1 (E413V +5 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3229056	NM_001370259.2(MEN1):c.1252_1254delinsAAT (p.Asp418Asn)	MEN1 (D383N +5 more)	Indel (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 3229055	NM_001370259.2(MEN1):c.1246T>A (p.Phe416Ile)	MEN1 (F381I +5 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3229054	NM_001370259.2(MEN1):c.1242G>A (p.Leu414=)	MEN1	Single nucleotide variant (synonymous variant +2 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3229053	NM_001370259.2(MEN1):c.1235A>C (p.His412Pro)	MEN1 (H377P +5 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3229052	NM_001370259.2(MEN1):c.1228T>G (p.Phe410Val)	MEN1 (F375V +5 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3229051	NM_001370259.2(MEN1):c.1211T>C (p.Leu404Pro)	MEN1 (L369P +5 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3229050	NM_001370259.2(MEN1):c.1201G>C (p.Gly401Arg)	MEN1 (G366R +5 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3229049	NM_001370259.2(MEN1):c.1146G>A (p.Leu382=)	MEN1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3229048	NM_001370259.2(MEN1):c.1107T>A (p.Asn369Lys)	MEN1 (N334K +5 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3229047	NM_001370259.2(MEN1):c.1074_1078del (p.Glu358fs)	MEN1 (E323fs +5 more)	Deletion (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 3229046	NM_001370259.2(MEN1):c.1060T>A (p.Cys354Ser)	MEN1 (C319S +5 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3125303	NM_001370259.2(MEN1):c.962A>G (p.Tyr321Cys)	MEN1 (Y321C +2 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3076045	NM_001370259.2(MEN1):c.1270dup (p.Glu424fs)	MEN1 (E389fs +5 more)	Duplication (frameshift variant +2 more)	Multiple endocrine neoplasia, type 1	GLikely pathogenic
Select item 3075332	NM_001370259.2(MEN1):c.19C>A (p.Gln7Lys)	MEN1 (Q7K)	Single nucleotide variant (missense variant +1 more)	Multiple endocrine neoplasia, type 1	GUncertain significance
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

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