"Fulgent Genetics, Fulgent Genetics"[submitter] AND "LOC132090450"[gen - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1594234	NM_000135.4(FANCA):c.3409-18C>T	FANCA, LOC132090450	Single nucleotide variant (intron variant)	Fanconi anemia +1 more	GLikely benign
Select item 1576722	NM_000135.4(FANCA):c.3408+16A>G	FANCA, LOC132090450	Single nucleotide variant (intron variant)	Fanconi anemia +1 more	GLikely benign
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
Select item 1387812	NM_000135.4(FANCA):c.3390C>G (p.Ile1130Met)	FANCA, LOC132090450 (I1130M)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 456114	NM_000135.4(FANCA):c.3385G>C (p.Asp1129His)	FANCA, LOC132090450 (D1129H)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group A +2 more	GUncertain significance
Select item 697929	NM_000135.4(FANCA):c.3381A>G (p.Thr1127=)	FANCA, LOC132090450	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group A +1 more	GLikely benign
Select item 1008851	NM_000135.4(FANCA):c.3373G>A (p.Ala1125Thr)	FANCA, LOC132090450 (A1125T)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance

ClinVar