"Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, E - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 212221	NM_032444.4(SLX4):c.5281C>T (p.Arg1761Cys)	SLX4 (R1761C)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 215538	NM_032444.4(SLX4):c.4648C>T (p.Arg1550Trp)	SLX4 (R1550W)	Single nucleotide variant (missense variant)	Fanconi anemia +4 more	GBenign/Likely benign
Select item 319152	NM_032444.4(SLX4):c.4494G>A (p.Leu1498=)	SLX4	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 241684	NM_032444.4(SLX4):c.3857C>T (p.Ala1286Val)	SLX4 (A1286V)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 241676	NM_032444.4(SLX4):c.2786C>T (p.Pro929Leu)	SLX4 (P929L)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 407899	NM_032444.4(SLX4):c.2305G>C (p.Glu769Gln)	SLX4 (E769Q)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 212222	NM_032444.4(SLX4):c.710G>A (p.Arg237Gln)	SLX4 (R237Q)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 215951	NM_032444.4(SLX4):c.339T>C (p.Ser113=)	SLX4	Single nucleotide variant (synonymous variant)	Fanconi anemia +3 more	GConflicting classifications of pathogenicity
Select item 1209980	NM_032444.4(SLX4):c.335C>T (p.Pro112Leu)	SLX4 (P112L)	Single nucleotide variant (missense variant)	not provided	GLikely benign