"Center for Human Genetics, Inc, Center for Human Genetics, Inc"[submi - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 279852	NM_001370259.2(MEN1):c.1546dup (p.Arg516fs)	MEN1 (R481fs +3 more)	Duplication (frameshift variant)	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)	Multiple endocrine neoplasia, type 1 +3 more	GConflicting classifications of pathogenicity
Select item 547518	NM_001370259.2(MEN1):c.1103C>A (p.Ala368Asp)	MEN1 (A368D +3 more)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia, type 1	GPathogenic
Select item 547517	NM_001370259.2(MEN1):c.1049+2T>C	MEN1	Single nucleotide variant (non-coding transcript variant +1 more)	Multiple endocrine neoplasia, type 1	GPathogenic/Likely pathogenic
Select item 200981	NM_001370259.2(MEN1):c.784-9G>A	MEN1	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
Select item 201009	NM_001370259.2(MEN1):c.548G>A (p.Trp183Ter)	MEN1 (W183* +1 more)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 41854	NM_001370259.2(MEN1):c.512G>A (p.Arg171Gln)	MEN1 (R171Q +1 more)	Single nucleotide variant (missense variant)	Hyperparathyroidism +5 more	GConflicting classifications of pathogenicity
Select item 200971	NM_001370259.2(MEN1):c.113C>T (p.Ser38Phe)	MEN1 (S38F)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic/Likely pathogenic
Select item 188376	NM_001370259.2(MEN1):c.3G>A (p.Met1Ile)	MEN1 (M1I)	Single nucleotide variant (missense variant +1 more)	Multiple endocrine neoplasia, type 1 +2 more	GPathogenic/Likely pathogenic