"Revvity Omics, Revvity"[submitter] AND "MEN1"[gene] - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 200987	NM_001370259.2(MEN1):c.1618C>T (p.Pro540Ser)	MEN1 (P540S +3 more)	Single nucleotide variant (missense variant)	Hyperparathyroidism +7 more	GConflicting classifications of pathogenicity
Select item 403844	NM_001370259.2(MEN1):c.1481C>T (p.Pro494Leu)	MEN1 (P499L +3 more)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia, type 1 +1 more	GUncertain significance
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 96250	NM_001370259.2(MEN1):c.1308G>T (p.Trp436Cys)	MEN1 (W436C +3 more)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia, type 1 +2 more	GPathogenic/Likely pathogenic
Select item 403829	NM_001370259.2(MEN1):c.1219C>G (p.Pro407Ala)	MEN1 (P412A +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 220268	NM_001370259.2(MEN1):c.1166G>A (p.Arg389Gln)	MEN1 (R394Q +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2689422	NM_001370259.2(MEN1):c.719T>C (p.Val240Ala)	MEN1 (V205A +2 more)	Single nucleotide variant (missense variant +1 more)	Multiple endocrine neoplasia, type 1	GUncertain significance
Select item 305315	NM_001370259.2(MEN1):c.61C>A (p.Arg21Ser)	MEN1 (R21S)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity