"GeneDx"[submitter] AND "LOC132090450"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58270	GRCh38/hg38 16q24.3(chr16:89570545-89814613)x1	CDK10, CHMP1A +35 more	Copy number loss	See cases	GUncertain significance
Select item 255259	NM_000135.4(FANCA):c.3408+45G>A	FANCA, LOC132090450	Single nucleotide variant (intron variant)	Fanconi anemia complementation group A +2 more	GBenign
Select item 255257	NM_000135.4(FANCA):c.3408+33T>C	FANCA, LOC132090450	Single nucleotide variant (intron variant)	Fanconi anemia complementation group A +2 more	GBenign
Select item 2497937	NM_000135.4(FANCA):c.3399C>G (p.His1133Gln)	FANCA, LOC132090450 (H1133Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1067764	NM_000135.4(FANCA):c.3392C>T (p.Thr1131Ile)	FANCA, LOC132090450 (T1131I)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GConflicting classifications of pathogenicity
Select item 237048	NM_000135.4(FANCA):c.3391A>G (p.Thr1131Ala)	FANCA, LOC132090450 (T1131A)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic

ClinVar