"GeneKor MSA"[submitter] AND "MEN1"[gene] - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 584527	NM_001370259.2(MEN1):c.1546C>T (p.Arg516Trp)	MEN1 (R521W +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 241806	NM_001370259.2(MEN1):c.1434C>T (p.Gly478=)	MEN1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 403828	NM_001370259.2(MEN1):c.1177C>G (p.Gln393Glu)	MEN1 (Q393E +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 161295	NM_001370259.2(MEN1):c.563C>T (p.Pro188Leu)	MEN1 (P188L +1 more)	Single nucleotide variant (missense variant +1 more)	Multiple endocrine neoplasia, type 1 +2 more	GConflicting classifications of pathogenicity
Select item 485714	NM_001370259.2(MEN1):c.526G>T (p.Ala176Ser)	MEN1 (A176S +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 428047	NM_001370259.2(MEN1):c.344G>A (p.Arg115His)	MEN1 (R115H)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 584528	NM_001370259.2(MEN1):c.329G>C (p.Gly110Ala)	MEN1 (G110A)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 584529	NM_000244.3:c.563C>T	MEN1	Single nucleotide variant	Hereditary cancer-predisposing syndrome	GUncertain significance