ClinVar for MedGen (Select 9957) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3375273	NM_001370259.2(MEN1):c.134A>T (p.Glu45Val)	MEN1 (E45V)	Single nucleotide variant (missense variant +1 more)	Multiple endocrine neoplasia, type 1	GLikely pathogenic
Select item 3339291	NM_001370259.2(MEN1):c.1043T>A (p.Ile348Asn)	MEN1 (I313N +2 more)	Single nucleotide variant (missense variant +1 more)	Multiple endocrine neoplasia, type 1	GLikely pathogenic
Select item 3339242	NM_001370259.2(MEN1):c.912+2T>A	MEN1	Single nucleotide variant (splice donor variant)	Multiple endocrine neoplasia, type 1	GLikely pathogenic
Select item 3338389	NM_001370259.2(MEN1):c.773A>C (p.Gln258Pro)	MEN1 (Q223P +2 more)	Single nucleotide variant (missense variant +1 more)	Multiple endocrine neoplasia, type 1	GUncertain significance
Select item 3336299	NM_001370259.2(MEN1):c.1715C>A (p.Ser572Ter)	MEN1 (S517* +6 more)	Single nucleotide variant (nonsense +1 more)	Multiple endocrine neoplasia, type 1	GPathogenic
Select item 3254397	NM_001370259.2(MEN1):c.824+2T>C	MEN1	Single nucleotide variant (splice donor variant)	Multiple endocrine neoplasia, type 1	GLikely pathogenic
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 3229056	NM_001370259.2(MEN1):c.1252_1254delinsAAT (p.Asp418Asn)	MEN1 (D383N +5 more)	Indel (missense variant +2 more)	Multiple endocrine neoplasia, type 1 +1 more	GPathogenic
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
Select item 3075131	NM_001370259.2(MEN1):c.441C>A (p.Ile147=)	MEN1	Single nucleotide variant (synonymous variant +1 more)	Multiple endocrine neoplasia, type 1	GLikely benign
Select item 3075012	NM_001370259.2(MEN1):c.1532T>C (p.Val511Ala)	MEN1 (V456A +6 more)	Single nucleotide variant (missense variant +1 more)	Multiple endocrine neoplasia, type 1	GUncertain significance
Select item 3074883	NM_001370259.2(MEN1):c.1044C>G (p.Ile348Met)	MEN1 (I313M +2 more)	Single nucleotide variant (missense variant +1 more)	Multiple endocrine neoplasia, type 1	GUncertain significance
Select item 3074126	NM_001370259.2(MEN1):c.-20_-14dup	MEN1	Duplication (5 prime UTR variant +1 more)	Multiple endocrine neoplasia, type 1	GUncertain significance
Select item 3073706	NM_001370259.2(MEN1):c.636T>G (p.Asn212Lys)	MEN1 (N212K +1 more)	Single nucleotide variant (missense variant +2 more)	Multiple endocrine neoplasia, type 1	GUncertain significance
Select item 3073617	NM_001370259.2(MEN1):c.707T>C (p.Val236Ala)	MEN1 (V201A +2 more)	Single nucleotide variant (missense variant +1 more)	Multiple endocrine neoplasia, type 1	GUncertain significance
Select item 3073565	NM_001370259.2(MEN1):c.715A>G (p.Met239Val)	MEN1 (M204V +2 more)	Single nucleotide variant (missense variant +1 more)	Multiple endocrine neoplasia, type 1	GUncertain significance
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 3072909	NM_001370259.2(MEN1):c.41G>T (p.Arg14Leu)	MEN1 (R14L)	Single nucleotide variant (missense variant +1 more)	Multiple endocrine neoplasia, type 1	GUncertain significance
Select item 3072859	NM_001370259.2(MEN1):c.472G>C (p.Ala158Pro)	MEN1 (A158P +1 more)	Single nucleotide variant (missense variant +1 more)	Multiple endocrine neoplasia, type 1	GUncertain significance
Select item 3072845	NM_001370259.2(MEN1):c.249G>C (p.Leu83=)	MEN1	Single nucleotide variant (synonymous variant +1 more)	Multiple endocrine neoplasia, type 1	GLikely benign
Select item 3072803	NM_001370259.2(MEN1):c.209A>G (p.Asp70Gly)	MEN1 (D70G)	Single nucleotide variant (missense variant +1 more)	Multiple endocrine neoplasia, type 1	GUncertain significance
Select item 3072392	NM_001370259.2(MEN1):c.1666G>A (p.Glu556Lys)	MEN1 (E501K +6 more)	Single nucleotide variant (missense variant +1 more)	Multiple endocrine neoplasia, type 1 +1 more	GUncertain significance
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 3071686	NM_001370259.2(MEN1):c.1205C>T (p.Ser402Phe)	MEN1 (S367F +5 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Multiple endocrine neoplasia, type 1	GUncertain significance
Select item 3071646	NM_001370259.2(MEN1):c.1219C>A (p.Pro407Thr)	MEN1 (P372T +5 more)	Single nucleotide variant (missense variant +2 more)	Multiple endocrine neoplasia, type 1	GUncertain significance
Select item 3071507	NM_001370259.2(MEN1):c.29T>A (p.Leu10Gln)	MEN1 (L10Q)	Single nucleotide variant (missense variant +1 more)	Multiple endocrine neoplasia, type 1	GUncertain significance
Select item 3070865	NM_001370259.2(MEN1):c.1123C>A (p.Leu375Met)	MEN1 (L340M +5 more)	Single nucleotide variant (missense variant +1 more)	Multiple endocrine neoplasia, type 1	GUncertain significance
Select item 3070537	NM_001370259.2(MEN1):c.913-11_913-6dup	MEN1	Duplication (intron variant)	Multiple endocrine neoplasia, type 1	GLikely benign
Select item 3070329	NM_001370259.2(MEN1):c.1526G>C (p.Gly509Ala)	MEN1 (G454A +6 more)	Single nucleotide variant (missense variant +1 more)	Multiple endocrine neoplasia, type 1	GUncertain significance
Select item 3070307	NM_001370259.2(MEN1):c.913-5T>C	MEN1	Single nucleotide variant (intron variant)	Multiple endocrine neoplasia, type 1	GLikely benign
Select item 3069844	NM_001370259.2(MEN1):c.-9C>G	MEN1	Single nucleotide variant (5 prime UTR variant +1 more)	Multiple endocrine neoplasia, type 1	GLikely benign
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 3065174	NM_001370259.2(MEN1):c.-23-28_783+50del	MEN1	Deletion (splice acceptor variant +2 more)	Multiple endocrine neoplasia, type 1	GUncertain significance
Select item 3063935	NM_001370259.2(MEN1):c.796del (p.Leu266fs)	MEN1 (L231fs +2 more)	Deletion (frameshift variant +1 more)	Multiple endocrine neoplasia, type 1	GPathogenic
Select item 3023661	NM_001370259.2(MEN1):c.824+10G>A	MEN1	Single nucleotide variant (intron variant)	Multiple endocrine neoplasia, type 1	GLikely benign
Select item 3023559	NM_001370259.2(MEN1):c.576G>C (p.Gln192His)	MEN1 (Q192H +1 more)	Single nucleotide variant (missense variant +2 more)	Multiple endocrine neoplasia, type 1	GUncertain significance
Select item 3021280	NM_001370259.2(MEN1):c.1113C>A (p.Val371=)	MEN1	Single nucleotide variant (synonymous variant +1 more)	Multiple endocrine neoplasia, type 1	GLikely benign
Select item 3019558	NM_001370259.2(MEN1):c.1050-10G>C	MEN1	Single nucleotide variant (intron variant)	Multiple endocrine neoplasia, type 1	GLikely benign
Select item 3019475	NM_001370259.2(MEN1):c.256A>G (p.Ile86Val)	MEN1 (I86V)	Single nucleotide variant (missense variant +1 more)	Multiple endocrine neoplasia, type 1	GUncertain significance
Select item 3017765	NM_001370259.2(MEN1):c.450C>T (p.Thr150=)	MEN1	Single nucleotide variant (synonymous variant +1 more)	Multiple endocrine neoplasia, type 1	GLikely benign
Select item 3014770	NM_001370259.2(MEN1):c.550G>A (p.Val184Ile)	MEN1 (V189I +1 more)	Single nucleotide variant (missense variant +2 more)	Multiple endocrine neoplasia, type 1	GUncertain significance
Select item 3014679	NM_001370259.2(MEN1):c.1050-10G>A	MEN1	Single nucleotide variant (intron variant)	Multiple endocrine neoplasia, type 1	GLikely benign
Select item 3012790	NM_001370259.2(MEN1):c.824+9A>C	MEN1	Single nucleotide variant (intron variant)	Multiple endocrine neoplasia, type 1	GLikely benign
Select item 3011246	NM_001370259.2(MEN1):c.1359G>A (p.Gln453=)	MEN1	Single nucleotide variant (synonymous variant +1 more)	Multiple endocrine neoplasia, type 1	GLikely benign
Select item 3011064	NM_001370259.2(MEN1):c.737C>A (p.Ser246Tyr)	MEN1 (S211Y +2 more)	Single nucleotide variant (missense variant +1 more)	Multiple endocrine neoplasia, type 1	GUncertain significance
Select item 3009029	NM_001370259.2(MEN1):c.75C>A (p.Ala25=)	MEN1	Single nucleotide variant (synonymous variant +1 more)	Multiple endocrine neoplasia, type 1	GLikely benign
Select item 3008659	NM_001370259.2(MEN1):c.1293G>A (p.Val431=)	MEN1	Single nucleotide variant (synonymous variant +2 more)	Multiple endocrine neoplasia, type 1	GLikely benign
Select item 3007975	NM_001370259.2(MEN1):c.1369A>G (p.Ile457Val)	MEN1 (I422V +6 more)	Single nucleotide variant (missense variant +1 more)	Multiple endocrine neoplasia, type 1	GUncertain significance
Select item 3004010	NM_001370259.2(MEN1):c.770T>C (p.Leu257Pro)	MEN1 (L222P +2 more)	Single nucleotide variant (missense variant +1 more)	Multiple endocrine neoplasia, type 1	GUncertain significance
Select item 2999962	NM_001370259.2(MEN1):c.1290T>G (p.Pro430=)	MEN1	Single nucleotide variant (synonymous variant +2 more)	Multiple endocrine neoplasia, type 1	GLikely benign
Select item 2998066	NM_001370259.2(MEN1):c.1232C>T (p.Ala411Val)	MEN1 (A418V +5 more)	Single nucleotide variant (missense variant +2 more)	Multiple endocrine neoplasia, type 1	GLikely pathogenic
Select item 2996300	NM_001370259.2(MEN1):c.1474C>T (p.Pro492Ser)	MEN1 (P457S +6 more)	Single nucleotide variant (missense variant +1 more)	Multiple endocrine neoplasia, type 1	GUncertain significance
Select item 2993613	NM_001370259.2(MEN1):c.920C>T (p.Ala307Val)	MEN1 (A272V +2 more)	Single nucleotide variant (missense variant +1 more)	Multiple endocrine neoplasia, type 1	GUncertain significance
Select item 2988625	NM_001370259.2(MEN1):c.508C>G (p.Leu170Val)	MEN1 (L170V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2987184	NM_001370259.2(MEN1):c.1354C>G (p.Arg452Gly)	MEN1 (R417G +6 more)	Single nucleotide variant (missense variant +1 more)	Multiple endocrine neoplasia, type 1	GLikely pathogenic
Select item 2982300	NM_001370259.2(MEN1):c.564del (p.Asn189fs)	MEN1 (N189fs +1 more)	Deletion (frameshift variant +2 more)	Multiple endocrine neoplasia, type 1	GPathogenic
Select item 2966928	NM_001370259.2(MEN1):c.144G>T (p.Leu48=)	MEN1	Single nucleotide variant (synonymous variant +1 more)	Multiple endocrine neoplasia, type 1	GLikely benign
Select item 2961613	NM_001370259.2(MEN1):c.766C>G (p.Leu256Val)	MEN1 (L221V +2 more)	Single nucleotide variant (missense variant +1 more)	Multiple endocrine neoplasia, type 1	GUncertain significance
Select item 2961199	NM_001370259.2(MEN1):c.912+18G>A	MEN1	Single nucleotide variant (intron variant)	Multiple endocrine neoplasia, type 1	GLikely benign
Select item 2958932	NM_001370259.2(MEN1):c.939T>C (p.Tyr313=)	MEN1	Single nucleotide variant (synonymous variant +1 more)	Multiple endocrine neoplasia, type 1	GLikely benign
Select item 2956541	NM_001370259.2(MEN1):c.446-12C>G	MEN1	Single nucleotide variant (intron variant)	Multiple endocrine neoplasia, type 1	GLikely benign
Select item 2955535	NM_001370259.2(MEN1):c.1466C>T (p.Pro489Leu)	MEN1 (P489L +6 more)	Single nucleotide variant (missense variant +1 more)	Multiple endocrine neoplasia, type 1	GUncertain significance
Select item 2954627	NM_001370259.2(MEN1):c.1333G>A (p.Gly445Ser)	MEN1 (G452S +5 more)	Single nucleotide variant (missense variant +2 more)	Multiple endocrine neoplasia, type 1	GUncertain significance
Select item 2920479	NM_001370259.2(MEN1):c.409C>G (p.Arg137Gly)	MEN1 (R137G)	Single nucleotide variant (missense variant +1 more)	Multiple endocrine neoplasia, type 1	GUncertain significance
Select item 2920137	NM_001370259.2(MEN1):c.446-13C>T	MEN1	Single nucleotide variant (intron variant)	Multiple endocrine neoplasia, type 1	GLikely benign
Select item 2919098	NM_001370259.2(MEN1):c.1311C>T (p.Ala437=)	MEN1	Single nucleotide variant (synonymous variant +2 more)	Multiple endocrine neoplasia, type 1	GLikely benign
Select item 2918156	NM_001370259.2(MEN1):c.75C>G (p.Ala25=)	MEN1	Single nucleotide variant (synonymous variant +1 more)	Multiple endocrine neoplasia, type 1	GLikely benign
Select item 2910273	NM_001370259.2(MEN1):c.55G>C (p.Val19Leu)	MEN1 (V19L)	Single nucleotide variant (missense variant +1 more)	Multiple endocrine neoplasia, type 1	GUncertain significance
Select item 2908941	NM_001370259.2(MEN1):c.913-16C>T	MEN1	Single nucleotide variant (intron variant)	Multiple endocrine neoplasia, type 1	GLikely benign
Select item 2907410	NM_001370259.2(MEN1):c.137A>G (p.His46Arg)	MEN1 (H46R)	Single nucleotide variant (missense variant +1 more)	Multiple endocrine neoplasia, type 1	GLikely pathogenic
Select item 2907409	NM_001370259.2(MEN1):c.842G>A (p.Gly281Glu)	MEN1 (G286E +2 more)	Single nucleotide variant (missense variant +1 more)	Multiple endocrine neoplasia, type 1	GUncertain significance
Select item 2904554	NM_001370259.2(MEN1):c.15C>T (p.Ala5=)	MEN1	Single nucleotide variant (synonymous variant +1 more)	Multiple endocrine neoplasia, type 1	GLikely benign
Select item 2902142	NM_001370259.2(MEN1):c.190C>A (p.Gln64Lys)	MEN1 (Q64K)	Single nucleotide variant (missense variant +1 more)	Multiple endocrine neoplasia, type 1 +1 more	GUncertain significance
Select item 2900184	NM_001370259.2(MEN1):c.1521C>T (p.Gly507=)	MEN1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 2899342	NM_001370259.2(MEN1):c.351G>A (p.Leu117=)	MEN1	Single nucleotide variant (synonymous variant +1 more)	Multiple endocrine neoplasia, type 1	GLikely benign
Select item 2886355	NM_001370259.2(MEN1):c.861G>C (p.Glu287Asp)	MEN1 (E252D +2 more)	Single nucleotide variant (missense variant +1 more)	Multiple endocrine neoplasia, type 1	GUncertain significance

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