"Revvity Omics, Revvity"[submitter] AND "FANCE"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1466115	NM_021922.3(FANCE):c.145G>A (p.Ala49Thr)	FANCE, LOC129996245 (A49T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2441347	NM_021922.3(FANCE):c.291C>A (p.Asn97Lys)	FANCE (N97K)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group E	GUncertain significance
Select item 8710	NM_021922.3(FANCE):c.421C>T (p.Arg141Ter)	FANCE (R141*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group E	GPathogenic/Likely pathogenic
Select item 2689043	NM_021922.3(FANCE):c.787G>A (p.Glu263Lys)	FANCE (E263K)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group E	GUncertain significance
Select item 655390	NM_021922.3(FANCE):c.929dup (p.Val311fs)	FANCE (V311fs)	Duplication (frameshift variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1324382	NM_021922.3(FANCE):c.1238-1G>C	FANCE	Single nucleotide variant (splice acceptor variant)	Fanconi anemia complementation group E	GLikely pathogenic
Select item 1351718	NM_021922.3(FANCE):c.1594A>C (p.Lys532Gln)	FANCE (K532Q)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group E +1 more	GUncertain significance

ClinVar