C0025267[trait identifier] AND "KCCC/NGS Laboratory, Kuwait Cancer Con - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 13909	NM_020975.6(RET):c.1901G>A (p.Cys634Tyr)	RET (C634Y +14 more)	Single nucleotide variant (missense variant)	not provided +5 more	GPathogenic
Select item 13951	NM_020975.6(RET):c.2671T>G (p.Ser891Ala)	RET (S891A +17 more)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia, type 2 +10 more	GPathogenic
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 412572	NM_001370259.2(MEN1):c.1410G>A (p.Pro470=)	MEN1	Single nucleotide variant (synonymous variant)	Multiple endocrine neoplasia, type 1 +1 more	GLikely benign
Select item 241804	NM_001370259.2(MEN1):c.1392G>A (p.Ala464=)	MEN1	Single nucleotide variant (synonymous variant)	Multiple endocrine neoplasia, type 1 +3 more	GLikely benign
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 412578	NM_001370259.2(MEN1):c.1071C>T (p.Asp357=)	MEN1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 215966	NM_001370259.2(MEN1):c.762G>A (p.Leu254=)	MEN1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 41854	NM_001370259.2(MEN1):c.512G>A (p.Arg171Gln)	MEN1 (R171Q +1 more)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia, type 1 +5 more	GConflicting classifications of pathogenicity
Select item 96252	NM_001370259.2(MEN1):c.435C>T (p.Ser145=)	MEN1	Single nucleotide variant (synonymous variant)	Multiple endocrine neoplasia, type 1 +4 more	GBenign
Select item 457320	NM_001370259.2(MEN1):c.303C>T (p.Val101=)	MEN1	Single nucleotide variant (synonymous variant)	Multiple endocrine neoplasia, type 1 +1 more	GLikely benign
Select item 1069786	NM_001370259.2(MEN1):c.238del (p.Val80fs)	MEN1 (V80fs)	Deletion (frameshift variant)	Multiple endocrine neoplasia, type 1	GPathogenic
Select item 215963	NM_001370259.2(MEN1):c.18C>T (p.Ala6=)	MEN1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign