"Center for Genomics, Ann and Robert H. Lurie Children's Hospital of C - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1675132	NM_032444.4(SLX4):c.4700C>T (p.Ser1567Phe)	SLX4 (S1567F)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 626021	NM_032444.4(SLX4):c.3948_3962del (p.Pro1317_Pro1321del)	SLX4	Deletion (inframe_deletion)	Fanconi anemia complementation group P	GUncertain significance
Select item 827989	NM_032444.4(SLX4):c.3842G>A (p.Gly1281Glu)	SLX4 (G1281E)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group P +1 more	GUncertain significance
Select item 626022	NM_032444.4(SLX4):c.3419A>C (p.Lys1140Thr)	SLX4 (K1140T)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group P	GUncertain significance
Select item 319164	NM_032444.4(SLX4):c.2681T>G (p.Val894Gly)	SLX4 (V894G)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 319165	NM_032444.4(SLX4):c.2585G>A (p.Arg862Gln)	SLX4 (R862Q)	Single nucleotide variant (missense variant)	Fanconi anemia +2 more	GUncertain significance
Select item 526348	NM_032444.4(SLX4):c.2137C>T (p.Arg713Ter)	SLX4 (R713*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic

ClinVar