"Counsyl"[submitter] AND "LOC130059837"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 134260	NM_000135.4(FANCA):c.2681G>A (p.Arg894Lys)	FANCA, LOC130059837 (R894K)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 550737	NM_000135.4(FANCA):c.2667del (p.Ser890fs)	FANCA, LOC130059837 (S890fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 555460	NM_000135.4(FANCA):c.2639G>A (p.Arg880Gln)	FANCA, LOC130059837 (R880Q)	Single nucleotide variant (missense variant)	Fanconi anemia +2 more	GPathogenic/Likely pathogenic
Select item 556663	NM_000135.4(FANCA):c.2630_2631del (p.Phe876_Ser877insTer)	FANCA, LOC130059837	Deletion (nonsense)	Fanconi anemia complementation group A	GLikely pathogenic
Select item 554084	NM_000135.4(FANCA):c.2602T>G (p.Phe868Val)	FANCA, LOC130059837 (F868V)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group A	GUncertain significance
Select item 555572	NM_000135.4(FANCA):c.2602-2A>T	LOC130059837, FANCA	Single nucleotide variant (splice acceptor variant)	Fanconi anemia +1 more	GPathogenic

ClinVar