"Myriad Genetics, Inc."[submitter] AND "MEN1"[gene] - ClinVar

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Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 201023	NM_001370259.2(MEN1):c.1667AGA[1] (p.Lys557del)	MEN1 (K557del +3 more)	Microsatellite (inframe_deletion)	MEN1-related condition +2 more	GConflicting classifications of pathogenicity
Select item 216134	NM_001370259.2(MEN1):c.1664G>A (p.Ser555Asn)	MEN1 (S555N +3 more)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia, type 1 +2 more	GPathogenic/Likely pathogenic
Select item 188265	NM_001370259.2(MEN1):c.1535C>T (p.Ser512Leu)	MEN1 (S512L +3 more)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 1069776	NM_001370259.2(MEN1):c.1456G>T (p.Glu486Ter)	MEN1 (E451* +3 more)	Single nucleotide variant (nonsense)	Multiple endocrine neoplasia, type 1	GPathogenic
Select item 216133	NM_001370259.2(MEN1):c.1429G>T (p.Glu477Ter)	MEN1 (E477* +3 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
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 16692	NM_001370259.2(MEN1):c.1378C>T (p.Arg460Ter)	MEN1 (R460* +3 more)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic
Select item 1770581	NM_001370259.2(MEN1):c.1350+3G>A	MEN1	Single nucleotide variant (intron variant)	Multiple endocrine neoplasia, type 1 +1 more	GConflicting classifications of pathogenicity
Select item 428003	NM_001370259.2(MEN1):c.1306T>C (p.Trp436Arg)	MEN1 (W436R +3 more)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia, type 1 +1 more	GPathogenic/Likely pathogenic
Select item 16686	NM_001370259.2(MEN1):c.1306T>A (p.Trp436Arg)	MEN1 (W436R +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 663669	NM_001370259.2(MEN1):c.1253_1256del (p.Asp418fs)	MEN1 (D383fs +3 more)	Deletion (frameshift variant)	Multiple endocrine neoplasia, type 1	GPathogenic
Select item 403802	NM_001370259.2(MEN1):c.1243C>T (p.Arg415Ter)	MEN1 (R415* +3 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 215540	NM_001370259.2(MEN1):c.1170G>A (p.Pro390=)	MEN1	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 183065	NM_001370259.2(MEN1):c.1098A>T (p.Glu366Asp)	MEN1 (E366D +3 more)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia, type 1 +3 more	GConflicting classifications of pathogenicity
Select item 403838	NM_001370259.2(MEN1):c.969C>A (p.Tyr323Ter)	MEN1 (Y323* +2 more)	Single nucleotide variant (nonsense)	Multiple endocrine neoplasia, type 1 +2 more	GPathogenic
Select item 418292	NM_001370259.2(MEN1):c.828C>A (p.Tyr276Ter)	MEN1 (Y276* +2 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
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 200981	NM_001370259.2(MEN1):c.784-9G>A	MEN1	Single nucleotide variant (intron variant)	Multiple endocrine neoplasia, type 1 +2 more	GPathogenic/Likely pathogenic
Select item 548742	NM_001370259.2(MEN1):c.784-16C>T	MEN1	Single nucleotide variant (intron variant)	Multiple endocrine neoplasia, type 1	GLikely benign
Select item 381623	NM_001370259.2(MEN1):c.673G>A (p.Gly225Arg)	MEN1 (G225R +2 more)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia, type 1 +1 more	GLikely pathogenic
Select item 371885	NM_001370259.2(MEN1):c.655-5dup	MEN1	Duplication (intron variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 241820	NM_001370259.2(MEN1):c.655-4del	MEN1	Deletion (intron variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 200976	NM_001370259.2(MEN1):c.652C>T (p.Arg218Trp)	MEN1 (R218W +1 more)	Single nucleotide variant (missense variant +1 more)	Multiple endocrine neoplasia, type 1 +2 more	GConflicting classifications of pathogenicity
Select item 2673514	NM_001370259.2(MEN1):c.605del (p.Gly202fs)	MEN1 (G202fs +1 more)	Deletion (frameshift variant +2 more)	Multiple endocrine neoplasia, type 1	GPathogenic
Select item 41854	NM_001370259.2(MEN1):c.512G>A (p.Arg171Gln)	MEN1 (R171Q +1 more)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia +5 more	GConflicting classifications of pathogenicity
Select item 161294	NM_001370259.2(MEN1):c.511C>T (p.Arg171Trp)	MEN1 (R171W +1 more)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 36531	NM_001370259.2(MEN1):c.492C>T (p.Ala164=)	MEN1	Single nucleotide variant (synonymous variant)	Multiple endocrine neoplasia, type 1 +2 more	GBenign/Likely benign
Select item 2008792	NM_001370259.2(MEN1):c.416del (p.His139fs)	MEN1 (H139fs)	Deletion (frameshift variant)	Multiple endocrine neoplasia, type 1	GPathogenic
Select item 16681	NM_001370259.2(MEN1):c.402del (p.Phe134fs)	MEN1 (F134fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic
Select item 215964	NM_001370259.2(MEN1):c.339C>T (p.Ser113=)	MEN1	Single nucleotide variant (synonymous variant)	Multiple endocrine neoplasia, type 1 +1 more	GBenign/Likely benign
Select item 16693	NM_001370259.2(MEN1):c.249_252del (p.Ile85fs)	MEN1 (I85fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic
Select item 403814	NM_001370259.2(MEN1):c.196_200dup (p.Asp70fs)	MEN1 (D70fs)	Microsatellite (frameshift variant)	Multiple endocrine neoplasia, type 1 +2 more	GPathogenic
Select item 136169	NM_001370259.2(MEN1):c.30G>T (p.Leu10=)	MEN1	Single nucleotide variant (synonymous variant)	Hyperparathyroidism +4 more	GConflicting classifications of pathogenicity
Select item 188376	NM_001370259.2(MEN1):c.3G>A (p.Met1Ile)	MEN1 (M1I)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 36517	NM_001370259.2(MEN1):c.-20G>A	MEN1	Single nucleotide variant (5 prime UTR variant)	not specified +3 more	GConflicting classifications of pathogenicity

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Items: 35