"GeneDx"[submitter] AND "MEN1"[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 265

<< First< Prev

Page of 3

	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 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 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 457316	NM_001370259.2(MEN1):c.1800G>T (p.Leu600=)	MEN1	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 200991	NM_001370259.2(MEN1):c.1730T>C (p.Leu577Pro)	MEN1 (L577P +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 201004	NM_001370259.2(MEN1):c.1710_1715del (p.Ile570_Ser572delinsMet)	MEN1	Deletion (inframe_indel)	not provided	GUncertain significance
Select item 428038	NM_001370259.2(MEN1):c.1701C>T (p.Ala567=)	MEN1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 200989	NM_001370259.2(MEN1):c.1687G>T (p.Glu563Ter)	MEN1 (E563* +3 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 201023	NM_001370259.2(MEN1):c.1667AGA[1] (p.Lys557del)	MEN1 (K557del +3 more)	Microsatellite (inframe_deletion)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 200988	NM_001370259.2(MEN1):c.1660C>T (p.Gln554Ter)	MEN1 (Q554* +3 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 201003	NM_001370259.2(MEN1):c.1651del (p.Leu551fs)	MEN1 (L593fs +3 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 640403	NM_001370259.2(MEN1):c.1648G>C (p.Val550Leu)	MEN1 (V550L +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 215541	NM_001370259.2(MEN1):c.1638G>A (p.Pro546=)	MEN1	Single nucleotide variant (synonymous variant)	Multiple endocrine neoplasia, type 1 +3 more	GBenign/Likely benign
Select item 201022	NM_001370259.2(MEN1):c.1602_1618dup (p.Pro540fs)	MEN1 (P540fs +3 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 503627	NM_001370259.2(MEN1):c.1602_1618del (p.Ala535fs)	MEN1 (A577fs +3 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 384080	NM_001370259.2(MEN1):c.1609G>A (p.Val537Met)	MEN1 (V537M +3 more)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia, type 1 +2 more	GConflicting classifications of pathogenicity
Select item 819632	NM_001370259.2(MEN1):c.1607A>G (p.Gln536Arg)	MEN1 (Q536R +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 136167	NM_001370259.2(MEN1):c.1594G>T (p.Gly532Cys)	MEN1 (G532C +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 265242	NM_001370259.2(MEN1):c.1590del (p.Gly531fs)	MEN1 (G496fs +3 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 426212	NM_001370259.2(MEN1):c.1580G>A (p.Arg527Gln)	MEN1 (R527Q +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 16688	NM_001370259.2(MEN1):c.1579C>T (p.Arg527Ter)	MEN1 (R527* +3 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1045619	NM_001370259.2(MEN1):c.1558G>A (p.Gly520Arg)	MEN1 (G485R +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1072112	NM_001370259.2(MEN1):c.1556del (p.Pro519fs)	MEN1 (P484fs +3 more)	Deletion (frameshift variant)	Multiple endocrine neoplasia, type 1 +1 more	GPathogenic
Select item 201002	NM_001370259.2(MEN1):c.1548dup (p.Lys517fs)	MEN1 (K517fs +3 more)	Duplication (frameshift variant)	Multiple endocrine neoplasia, type 1 +2 more	GPathogenic/Likely pathogenic
Select item 279852	NM_001370259.2(MEN1):c.1546dup (p.Arg516fs)	MEN1 (R481fs +3 more)	Duplication (frameshift variant)	Multiple endocrine neoplasia, type 1 +2 more	GPathogenic
Select item 200999	NM_001370259.2(MEN1):c.1546del (p.Arg516fs)	MEN1 (R516fs +3 more)	Deletion (frameshift variant)	Multiple endocrine neoplasia, type 1 +2 more	GPathogenic
Select item 241808	NM_001370259.2(MEN1):c.1540C>A (p.Pro514Thr)	MEN1 (P514T +3 more)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia, type 1 +2 more	GConflicting classifications of pathogenicity
Select item 201021	NM_001370259.2(MEN1):c.1533_1534dup (p.Ser512fs)	MEN1 (S512fs +3 more)	Microsatellite (frameshift variant)	not provided +2 more	GPathogenic
Select item 188265	NM_001370259.2(MEN1):c.1535C>T (p.Ser512Leu)	MEN1 (S512L +3 more)	Single nucleotide variant (missense variant)	MEN1-related disorder +5 more	GConflicting classifications of pathogenicity
Select item 136166	NM_001370259.2(MEN1):c.1508G>A (p.Gly503Asp)	MEN1 (G503D +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign
Select item 418694	NM_001370259.2(MEN1):c.1505dup (p.Leu504fs)	MEN1 (L509fs +3 more)	Duplication (frameshift variant)	Multiple endocrine neoplasia, type 1 +1 more	GPathogenic
Select item 1650659	NM_001370259.2(MEN1):c.1503C>T (p.Asp501=)	MEN1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 412577	NM_001370259.2(MEN1):c.1479G>A (p.Pro493=)	MEN1	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 265241	NM_001370259.2(MEN1):c.1464del (p.Lys488fs)	MEN1 (K453fs +3 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 944556	NM_001370259.2(MEN1):c.1435C>T (p.Arg479Trp)	MEN1 (R444W +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 279851	NM_001370259.2(MEN1):c.1429dup (p.Glu477fs)	MEN1 (E442fs +3 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 216133	NM_001370259.2(MEN1):c.1429G>T (p.Glu477Ter)	MEN1 (E477* +3 more)	Single nucleotide variant (nonsense)	Multiple endocrine neoplasia, type 1 +2 more	GPathogenic
Select item 1017024	NM_001370259.2(MEN1):c.1426C>T (p.Arg476Trp)	MEN1 (R441W +3 more)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia, type 1 +1 more	GUncertain significance
Select item 188099	NM_001370259.2(MEN1):c.1409C>T (p.Pro470Leu)	MEN1 (P470L +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 457295	NM_001370259.2(MEN1):c.1404G>A (p.Glu468=)	MEN1	Single nucleotide variant (synonymous variant)	Multiple endocrine neoplasia, type 1 +2 more	GLikely benign
Select item 837786	NM_001370259.2(MEN1):c.1402G>A (p.Glu468Lys)	MEN1 (E433K +3 more)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia, type 1 +1 more	GUncertain significance
Select item 457294	NM_001370259.2(MEN1):c.1398G>T (p.Glu466Asp)	MEN1 (E466D +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 457293	NM_001370259.2(MEN1):c.1397A>T (p.Glu466Val)	MEN1 (E471V +3 more)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia, type 1 +2 more	GUncertain significance
Select item 1070954	NM_001370259.2(MEN1):c.1375_1391dup (p.Ala467fs)	MEN1 (A432fs +3 more)	Duplication (frameshift variant)	not provided +2 more	GPathogenic
Select item 424268	NM_001370259.2(MEN1):c.1378delinsACATAGT (p.Arg460delinsThrTer)	MEN1	Indel (nonsense)	not provided	GPathogenic
Select item 16692	NM_001370259.2(MEN1):c.1378C>T (p.Arg460Ter)	MEN1 (R460* +3 more)	Single nucleotide variant (nonsense)	Multiple endocrine neoplasia, type 1 +2 more	GPathogenic
Select item 241802	NM_001370259.2(MEN1):c.1364T>A (p.Val455Glu)	MEN1 (V455E +3 more)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia, type 1 +1 more	GConflicting classifications of pathogenicity
Select item 215961	NM_001370259.2(MEN1):c.1351-4C>T	MEN1	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 1245707	NM_001370259.2(MEN1):c.1350+103G>C	MEN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 201001	NM_001370259.2(MEN1):c.1350+1_1350+11del	MEN1	Deletion (splice donor variant)	not provided +2 more	GPathogenic
Select item 585285	NM_001370259.2(MEN1):c.1341T>G (p.Phe447Leu)	MEN1 (F447L +3 more)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia, type 1 +2 more	GUncertain significance
Select item 201000	NM_001370259.2(MEN1):c.1341del (p.Phe447fs)	MEN1 (F447fs +3 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 280564	NM_001370259.2(MEN1):c.1336del (p.Arg446fs)	MEN1 (R446fs +3 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 201016	NM_001370259.2(MEN1):c.1324C>T (p.Gln442Ter)	MEN1 (Q442* +3 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 16687	NM_001370259.2(MEN1):c.1307G>A (p.Trp436Ter)	MEN1 (W436* +3 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 16686	NM_001370259.2(MEN1):c.1306T>A (p.Trp436Arg)	MEN1 (W436R +3 more)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia, type 1 +2 more	GPathogenic/Likely pathogenic
Select item 36524	NM_001370259.2(MEN1):c.1296G>A (p.Leu432=)	MEN1	Single nucleotide variant (synonymous variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 1067928	NM_001370259.2(MEN1):c.1271AGG[1] (p.Glu425del)	MEN1 (E390del +3 more)	Microsatellite (inframe_deletion)	Multiple endocrine neoplasia, type 1 +1 more	GPathogenic/Likely pathogenic
Select item 36523	NM_001370259.2(MEN1):c.1262G>A (p.Cys421Tyr)	MEN1 (C421Y +3 more)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia, type 1 +2 more	GPathogenic/Likely pathogenic
Select item 96249	NM_001370259.2(MEN1):c.1254C>T (p.Asp418=)	MEN1	Single nucleotide variant (synonymous variant)	Multiple endocrine neoplasia, type 1 +4 more	GBenign
Select item 201015	NM_001370259.2(MEN1):c.1252G>C (p.Asp418His)	MEN1 (D418H +3 more)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia, type 1 +1 more	GPathogenic
Select item 545861	NM_001370259.2(MEN1):c.1247dup (p.Tyr417fs)	MEN1 (Y382fs +3 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 527262	NM_001370259.2(MEN1):c.1244G>C (p.Arg415Pro)	MEN1 (R415P +3 more)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia, type 1 +1 more	GConflicting classifications of pathogenicity
Select item 403802	NM_001370259.2(MEN1):c.1243C>T (p.Arg415Ter)	MEN1 (R415* +3 more)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic
Select item 216813	NM_001370259.2(MEN1):c.1231G>T (p.Ala411Ser)	MEN1 (A411S +3 more)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia, type 1 +2 more	GUncertain significance
Select item 651589	NM_001370259.2(MEN1):c.1220_1221del (p.Pro407fs)	MEN1 (P372fs +3 more)	Deletion (frameshift variant)	Multiple endocrine neoplasia, type 1 +2 more	GPathogenic
Select item 220643	NM_001370259.2(MEN1):c.1213C>T (p.Gln405Ter)	MEN1 (Q410* +3 more)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic
Select item 265240	NM_001370259.2(MEN1):c.1198C>T (p.Gln400Ter)	MEN1 (Q400* +3 more)	Single nucleotide variant (nonsense)	Multiple endocrine neoplasia, type 1 +1 more	GPathogenic
Select item 265239	NM_001370259.2(MEN1):c.1192C>T (p.Gln398Ter)	MEN1 (Q398* +3 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 223823	NM_001370259.2(MEN1):c.1185+12G>A	MEN1	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 403811	NM_001370259.2(MEN1):c.1174G>T (p.Glu392Ter)	MEN1 (E397* +3 more)	Single nucleotide variant (nonsense)	Multiple endocrine neoplasia, type 1 +2 more	GPathogenic
Select item 265238	NM_001370259.2(MEN1):c.1174del (p.Glu392fs)	MEN1 (E397fs +3 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 215540	NM_001370259.2(MEN1):c.1170G>A (p.Pro390=)	MEN1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 403816	NM_001370259.2(MEN1):c.1169C>T (p.Pro390Leu)	MEN1 (P390L +3 more)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia, type 1 +3 more	GConflicting classifications of pathogenicity
Select item 403809	NM_001370259.2(MEN1):c.1165C>T (p.Arg389Trp)	MEN1 (R394W +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 216811	NM_001370259.2(MEN1):c.1155G>A (p.Ala385=)	MEN1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 200983	NM_001370259.2(MEN1):c.1117C>G (p.Pro373Ala)	MEN1 (P373A +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 201020	NM_001370259.2(MEN1):c.1110del (p.Asp370fs)	MEN1 (D375fs +3 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 403848	NM_001370259.2(MEN1):c.1099G>A (p.Val367Ile)	MEN1 (V372I +3 more)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia, type 1 +2 more	GConflicting classifications of pathogenicity
Select item 16685	NM_001370259.2(MEN1):c.1087_1089del (p.Glu363del)	MEN1 (E363del +3 more)	Deletion (inframe_deletion)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic
Select item 219447	NM_001370259.2(MEN1):c.1080C>T (p.Ile360=)	MEN1	Single nucleotide variant (synonymous variant)	not specified +3 more	GLikely benign
Select item 1312598	NM_001370259.2(MEN1):c.1054_1056del (p.Asn352del)	MEN1 (N317del +3 more)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2500676	NM_001370259.2(MEN1):c.1050-3C>G	MEN1	Single nucleotide variant (intron variant)	Multiple endocrine neoplasia, type 1 +2 more	GConflicting classifications of pathogenicity
Select item 1243832	NM_001370259.2(MEN1):c.1050-65T>A	MEN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286117	NM_001370259.2(MEN1):c.1050-71G>A	MEN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1209281	NM_001370259.2(MEN1):c.1050-163T>C	MEN1 (I377T)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1233206	NM_001370259.2(MEN1):c.1049+115A>G	MEN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 36519	NM_001370259.2(MEN1):c.1049+9C>T	MEN1	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 428025	NM_001370259.2(MEN1):c.1049+1G>C	MEN1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 428018	NM_001370259.2(MEN1):c.1022G>A (p.Trp341Ter)	MEN1 (W341* +2 more)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic
Select item 428016	NM_001370259.2(MEN1):c.1013T>C (p.Leu338Pro)	MEN1 (L338P +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 403808	NM_001370259.2(MEN1):c.1012C>G (p.Leu338Val)	MEN1 (L338V +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 255616	NM_001370259.2(MEN1):c.1003C>A (p.Arg335=)	MEN1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 485723	NM_001370259.2(MEN1):c.989G>A (p.Arg330His)	MEN1 (R330H +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 3340686	NM_001370259.2(MEN1):c.981C>A (p.Tyr327Ter)	MEN1 (Y292* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 573476	NM_001370259.2(MEN1):c.980A>G (p.Tyr327Cys)	MEN1 (Y327C +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 449058	NM_001370259.2(MEN1):c.969C>G (p.Tyr323Ter)	MEN1 (Y323* +2 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 200998	NM_001370259.2(MEN1):c.950_957del (p.His317fs)	MEN1 (H317fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic

<< First< Prev

Page of 3