C1708350[trait identifier] AND "KCCC/NGS Laboratory, Kuwait Cancer Con - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 184590	NM_000143.4(FH):c.1428C>T (p.His476=)	FH	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +3 more	GLikely benign
Select item 413607	NM_000143.4(FH):c.1308G>A (p.Val436=)	FH	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 137372	NM_000143.4(FH):c.1302C>T (p.Cys434=)	FH	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign
Select item 137371	NM_000143.4(FH):c.1236+14C>T	FH	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +4 more	GBenign/Likely benign
Select item 2503792	NM_000143.4(FH):c.954_956dup (p.Asp319_Ala320insAsp)	FH	Duplication (inframe_insertion +1 more)	Hereditary leiomyomatosis and renal cell cancer	GLikely pathogenic
Select item 137370	NM_000143.4(FH):c.927G>A (p.Pro309=)	FH	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +4 more	GBenign
Select item 237118	NM_000143.4(FH):c.739-10T>C	FH	Single nucleotide variant (intron variant)	Fumarase deficiency +3 more	GBenign/Likely benign
Select item 137373	NM_000143.4(FH):c.309C>T (p.Ala103=)	FH	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign
Select item 16232	NM_000143.4(FH):c.301C>T (p.Arg101Ter)	FH (R101*)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic
Select item 142038	NM_000143.4(FH):c.105G>A (p.Ser35=)	FH	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 134413	NM_000143.4(FH):c.53C>T (p.Pro18Leu)	FH (P18L)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign/Likely benign