"GeneDx"[submitter] AND "LOC129996245"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1723603	NM_021922.3(FANCE):c.36G>T (p.Glu12Asp)	FANCE, LOC129996245 (E12D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 645170	NM_021922.3(FANCE):c.65T>C (p.Leu22Pro)	LOC129996245, FANCE (L22P)	Single nucleotide variant (missense variant)	See cases +2 more	GUncertain significance
Select item 1314290	NM_021922.3(FANCE):c.145G>C (p.Ala49Pro)	FANCE, LOC129996245 (A49P)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group E +2 more	GConflicting classifications of pathogenicity
Select item 471924	NM_021922.3(FANCE):c.206G>A (p.Arg69Gln)	FANCE, LOC129996245 (R69Q)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 134330	NM_021922.3(FANCE):c.229C>A (p.Pro77Thr)	FANCE, LOC129996245 (P77T)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 929570	NM_021922.3(FANCE):c.248+1G>A	FANCE, LOC129996245	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 929571	NM_021922.3(FANCE):c.248+58A>C	FANCE, LOC129996245	Single nucleotide variant (intron variant)	not provided	GBenign

ClinVar